Comparative genomic analysis of the WRKY III gene family in populus, grape, arabidopsis and rice.

Science.gov (United States)

Wang, Yiyi; Feng, Lin; Zhu, Yuxin; Li, Yuan; Yan, Hanwei; Xiang, Yan

2015-09-08

WRKY III genes have significant functions in regulating plant development and resistance. In plant, WRKY gene family has been studied in many species, however, there still lack a comprehensive analysis of WRKY III genes in the woody plant species poplar, three representative lineages of flowering plant species are incorporated in most analyses: Arabidopsis (a model plant for annual herbaceous dicots), grape (one model plant for perennial dicots) and Oryza sativa (a model plant for monocots). In this study, we identified 10, 6, 13 and 28 WRKY III genes in the genomes of Populus trichocarpa, grape (Vitis vinifera), Arabidopsis thaliana and rice (Oryza sativa), respectively. Phylogenetic analysis revealed that the WRKY III proteins could be divided into four clades. By microsynteny analysis, we found that the duplicated regions were more conserved between poplar and grape than Arabidopsis or rice. We dated their duplications by Ks analysis of Populus WRKY III genes and demonstrated that all the blocks were formed after the divergence of monocots and dicots. Strong purifying selection has played a key role in the maintenance of WRKY III genes in Populus. Tissue expression analysis of the WRKY III genes in Populus revealed that five were most highly expressed in the xylem. We also performed quantitative real-time reverse transcription PCR analysis of WRKY III genes in Populus treated with salicylic acid, abscisic acid and polyethylene glycol to explore their stress-related expression patterns. This study highlighted the duplication and diversification of the WRKY III gene family in Populus and provided a comprehensive analysis of this gene family in the Populus genome. Our results indicated that the majority of WRKY III genes of Populus was expanded by large-scale gene duplication. The expression pattern of PtrWRKYIII gene identified that these genes play important roles in the xylem during poplar growth and development, and may play crucial role in defense to drought

Multilocus analysis of nucleotide variation and speciation in three closely related Populus (Salicaceae) species.

Science.gov (United States)

Du, Shuhui; Wang, Zhaoshan; Ingvarsson, Pär K; Wang, Dongsheng; Wang, Junhui; Wu, Zhiqiang; Tembrock, Luke R; Zhang, Jianguo

2015-10-01

Historical tectonism and climate oscillations can isolate and contract the geographical distributions of many plant species, and they are even known to trigger species divergence and ultimately speciation. Here, we estimated the nucleotide variation and speciation in three closely related Populus species, Populus tremuloides, P. tremula and P. davidiana, distributed in North America and Eurasia. We analysed the sequence variation in six single-copy nuclear loci and three chloroplast (cpDNA) fragments in 497 individuals sampled from 33 populations of these three species across their geographic distributions. These three Populus species harboured relatively high levels of nucleotide diversity and showed high levels of nucleotide differentiation. Phylogenetic analysis revealed that P. tremuloides diverged earlier than the other two species. The cpDNA haplotype network result clearly illustrated the dispersal route from North America to eastern Asia and then into Europe. Molecular dating results confirmed that the divergence of these three species coincided with the sundering of the Bering land bridge in the late Miocene and a rapid uplift of the Qinghai-Tibetan Plateau around the Miocene/Pliocene boundary. Vicariance-driven successful allopatric speciation resulting from historical tectonism and climate oscillations most likely played roles in the formation of the disjunct distributions and divergence of these three Populus species. © 2015 John Wiley & Sons Ltd.

Repeated unidirectional introgression towards Populus balsamifera in contact zones of exotic and native poplars

NARCIS (Netherlands)

Thompson, S.L.; Lamothe, M.; Meirmans, P.G.; Périnet, P.; Isabel, N.

2010-01-01

As the evolutionary significance of hybridization is largely dictated by its extent beyond the first generation, we broadly surveyed patterns of introgression across a sympatric zone of two native poplars (Populus balsamifera, Populus deltoides) in Quebec, Canada within which European exotic Populus

Classical phenotype of Laron syndrome in a girl with a heterozygous mutation and heterozygous polymorphism of the growth hormone receptor gene.

Science.gov (United States)

Shevah, Orit; Galli-Tsinopoulou, Assimina; Rubinstein, Menachem; Nousia-Arvanitakis, Sanda; Laron, Zvi

2004-03-01

We describe here a 19 month-old girl with classical Laron syndrome (LS). Molecular analysis of the GH receptor gene in the patient and her parents was performed. The patient was found to be heterozygous for a mutation in exon 4 (R43X) and heterozygous for a polymorphism in exon 6 (Gly168Gly). Her mother was also heterozygous for R43X but homozygous for the polymorphism. In the father, a heterozygous polymorphism was found. Contrary to previous assumptions that only homozygous patients express the typical phenotype, this patient shows all the classical features of LS, despite being a heterozygote for a pathological defect.

Detection of a variable number of ribosomal DNA loci by fluorescent in situ hybridization in Populus species.

Science.gov (United States)

Prado, E A; Faivre-Rampant, P; Schneider, C; Darmency, M A

1996-10-01

Fluorescent in situ hybridization (FISH) was applied to related Populus species (2n = 19) in order to detect rDNA loci. An interspecific variability in the number of hybridization sites was revealed using as probe an homologous 25S clone from Populus deltoides. The application of image analysis methods to measure fluorescence intensity of the hybridization signals has enabled us to characterize major and minor loci in the 18S-5.8S-25S rDNA. We identified one pair of such rDNA clusters in Populus alba; two pairs, one major and one minor, in both Populus nigra and P. deltoides; and three pairs in Populus balsamifera, (two major and one minor) and Populus euroamericana (one major and two minor). FISH results are in agreement with those based on RFLP analysis. The pBG13 probe containing 5S sequence from flax detected two separate clusters corresponding to the two size classes of units that coexist within 5S rDNA of most Populus species. Key words : Populus spp., fluorescent in situ hybridization, FISH, rDNA variability, image analysis.

Alternative Splicing Studies of the Reactive Oxygen Species Gene Network in Populus Reveal Two Isoforms of High-Isoelectric-Point Superoxide Dismutase1[C][W

Science.gov (United States)

Srivastava, Vaibhav; Srivastava, Manoj Kumar; Chibani, Kamel; Nilsson, Robert; Rouhier, Nicolas; Melzer, Michael; Wingsle, Gunnar

2009-01-01

Recent evidence has shown that alternative splicing (AS) is widely involved in the regulation of gene expression, substantially extending the diversity of numerous proteins. In this study, a subset of expressed sequence tags representing members of the reactive oxygen species gene network was selected from the PopulusDB database to investigate AS mechanisms in Populus. Examples of all known types of AS were detected, but intron retention was the most common. Interestingly, the closest Arabidopsis (Arabidopsis thaliana) homologs of half of the AS genes identified in Populus are not reportedly alternatively spliced. Two genes encoding the protein of most interest in our study (high-isoelectric-point superoxide dismutase [hipI-SOD]) have been found in black cottonwood (Populus trichocarpa), designated PthipI-SODC1 and PthipI-SODC2. Analysis of the expressed sequence tag libraries has indicated the presence of two transcripts of PthipI-SODC1 (hipI-SODC1b and hipI-SODC1s). Alignment of these sequences with the PthipI-SODC1 gene showed that hipI-SODC1b was 69 bp longer than hipI-SODC1s due to an AS event involving the use of an alternative donor splice site in the sixth intron. Transcript analysis showed that the splice variant hipI-SODC1b was differentially expressed, being clearly expressed in cambial and xylem, but not phloem, regions. In addition, immunolocalization and mass spectrometric data confirmed the presence of hipI-SOD proteins in vascular tissue. The functionalities of the spliced gene products were assessed by expressing recombinant hipI-SOD proteins and in vitro SOD activity assays. PMID:19176719

Leaf, woody, and root biomass of Populus irrigated with landfill leachate

Science.gov (United States)

Jill A. Zalesny; Ronald S., Jr. Zalesny; D.R. Coyle; R.B. Hall

2007-01-01

Poplar (Populus spp.) trees can be utilized for ecological leachate disposal when applied as an irrigation source for managed tree systems. Our objective was to evaluate differences in tree height, diameter, volume, and biomass of leaf, stem, branch, and root tissues of Populus trees after two seasons of irrigation with municipal...

Fundus albipunctatus associated with compound heterozygous mutations in RPE65

DEFF Research Database (Denmark)

Schatz, Patrik; Preising, Markus; Lorenz, Birgit

2011-01-01

To describe a family with an 18-year-old woman with fundus albipunctatus and compound heterozygous mutations in RPE65 whose unaffected parents and 1 female sibling harbored single heterozygous RPE65 mutations.......To describe a family with an 18-year-old woman with fundus albipunctatus and compound heterozygous mutations in RPE65 whose unaffected parents and 1 female sibling harbored single heterozygous RPE65 mutations....

Aldehyde Dehydrogenase Gene Superfamily in Populus: Organization and Expression Divergence between Paralogous Gene Pairs.

Science.gov (United States)

Tian, Feng-Xia; Zang, Jian-Lei; Wang, Tan; Xie, Yu-Li; Zhang, Jin; Hu, Jian-Jun

2015-01-01

Aldehyde dehydrogenases (ALDHs) constitute a superfamily of NAD(P)+-dependent enzymes that catalyze the irreversible oxidation of a wide range of reactive aldehydes to their corresponding nontoxic carboxylic acids. ALDHs have been studied in many organisms from bacteria to mammals; however, no systematic analyses incorporating genome organization, gene structure, expression profiles, and cis-acting elements have been conducted in the model tree species Populus trichocarpa thus far. In this study, a comprehensive analysis of the Populus ALDH gene superfamily was performed. A total of 26 Populus ALDH genes were found to be distributed across 12 chromosomes. Genomic organization analysis indicated that purifying selection may have played a pivotal role in the retention and maintenance of PtALDH gene families. The exon-intron organizations of PtALDHs were highly conserved within the same family, suggesting that the members of the same family also may have conserved functionalities. Microarray data and qRT-PCR analysis indicated that most PtALDHs had distinct tissue-specific expression patterns. The specificity of cis-acting elements in the promoter regions of the PtALDHs and the divergence of expression patterns between nine paralogous PtALDH gene pairs suggested that gene duplications may have freed the duplicate genes from the functional constraints. The expression levels of some ALDHs were up- or down-regulated by various abiotic stresses, implying that the products of these genes may be involved in the adaptation of Populus to abiotic stresses. Overall, the data obtained from our investigation contribute to a better understanding of the complexity of the Populus ALDH gene superfamily and provide insights into the function and evolution of ALDH gene families in vascular plants.

Aldehyde Dehydrogenase Gene Superfamily in Populus: Organization and Expression Divergence between Paralogous Gene Pairs.

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Feng-Xia Tian

Full Text Available Aldehyde dehydrogenases (ALDHs constitute a superfamily of NAD(P+-dependent enzymes that catalyze the irreversible oxidation of a wide range of reactive aldehydes to their corresponding nontoxic carboxylic acids. ALDHs have been studied in many organisms from bacteria to mammals; however, no systematic analyses incorporating genome organization, gene structure, expression profiles, and cis-acting elements have been conducted in the model tree species Populus trichocarpa thus far. In this study, a comprehensive analysis of the Populus ALDH gene superfamily was performed. A total of 26 Populus ALDH genes were found to be distributed across 12 chromosomes. Genomic organization analysis indicated that purifying selection may have played a pivotal role in the retention and maintenance of PtALDH gene families. The exon-intron organizations of PtALDHs were highly conserved within the same family, suggesting that the members of the same family also may have conserved functionalities. Microarray data and qRT-PCR analysis indicated that most PtALDHs had distinct tissue-specific expression patterns. The specificity of cis-acting elements in the promoter regions of the PtALDHs and the divergence of expression patterns between nine paralogous PtALDH gene pairs suggested that gene duplications may have freed the duplicate genes from the functional constraints. The expression levels of some ALDHs were up- or down-regulated by various abiotic stresses, implying that the products of these genes may be involved in the adaptation of Populus to abiotic stresses. Overall, the data obtained from our investigation contribute to a better understanding of the complexity of the Populus ALDH gene superfamily and provide insights into the function and evolution of ALDH gene families in vascular plants.

Characterization of MORE AXILLARY GROWTH genes in Populus.

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Olaf Czarnecki

Full Text Available Strigolactones are a new class of plant hormones that play a key role in regulating shoot branching. Studies of branching mutants in Arabidopsis, pea, rice and petunia have identified several key genes involved in strigolactone biosynthesis or signaling pathway. In the model plant Arabidopsis, MORE AXILLARY GROWTH1 (MAX1, MAX2, MAX3 and MAX4 are four founding members of strigolactone pathway genes. However, little is known about the strigolactone pathway genes in the woody perennial plants.Here we report the identification of MAX homologues in the woody model plant Populus trichocarpa. We identified the sequence homologues for each MAX protein in P. trichocarpa. Gene expression analysis revealed that Populus MAX paralogous genes are differentially expressed across various tissues and organs. Furthermore, we showed that Populus MAX genes could complement or partially complement the shoot branching phenotypes of the corresponding Arabidopsis max mutants.This study provides genetic evidence that strigolactone pathway genes are likely conserved in the woody perennial plants and lays a foundation for further characterization of strigolactone pathway and its functions in the woody perennial plants.

Heterozygous effects of irradiated chromosomes on viability in Drosophila melanogaster

International Nuclear Information System (INIS)

Simmons, M.J.

1976-01-01

Two large experiments were conducted in order to evaluate the heterozygous effects of irradiated chromosomes on viability. Mutations were accumulated on several hundred second chromosomes by delivering doses of 2,500R over either two or four generations for total x-ray exposures of 5,000R or 10,000R. Chromosomes treated with 5,000R were screened for lethals after the first treatment, and surviving nonlethals were used to generate families of fully treated chromosomes. The members of these families shared the effects of the first irradiation, but differed with respect to those of the second. The chromosomes treated with 10,000R were not grouped into families since mutations were accumulated independently on each chromosome in that experiment. Heterozygous effects on viability of the irradiated chromosomes were tested in both isogenic (homozygous) and nonisogenic (heterozygous) genetic backgrounds. In conjunction with these tests, homozygous viabilities were determined by the marked-inversion technique. This permitted a separation of the irradiated chromosomes into those which were drastic when made homozygous and those which were not. The results indicate that drastic chromosomes have deleterious effects in heterozygous condition, since viability was reduced by 2 to 4 percent in tests performed with the 10,000R chromosomes, and by 1 percent in those involving the 5,000R material. Within a series of tests, the effects were more pronounced when the genetic background was homozygous. These results suggest that the mutants induced by high doses of x-rays are principally drastic ones which show deleterious effects on viability in heterozygous condition

Detection of compound heterozygous of hb constant spring and hb q-Thailand by capillary electrophoresis and high performance liquid chromatography.

Science.gov (United States)

Pornprasert, Sakorn; Punyamung, Manoo

2015-06-01

A capillary electrophoresis (CE) has proven to be superior to a high performance liquid chromatography (HPLC) in the detection of hemoglobin Constant Spring (Hb CS). Thus the aim of this study was to analyze the efficacy of CE and HPLC for the detection of Hb CS in samples with compound heterozygous of Hb CS and Hb Q-Thailand. Hemoglobin analysis was performed in blood samples of 2 patients with compound heterozygous of Hb CS and Hb Q-Thailand by using HPLC and CE. The HPLC chromatogram and CE electrophoregram of the two techniques were compared. Hb CS was not found on HPLC chromatogram while Hb QA2 (α2 (QT)δ2), a derivative of Hb Q-Thailand, was presented at the retention time of 4.70-4.80 min and it was close to the retention time of Hb CS. On CE electrophoregram, Hb CS was presented at zone 2 (Z2) and it was distinctly separated from Hb QA2 which was presented at Z1. Therefore, CE was more efficient to the HPLC for diagnosis of compound heterozygous of Hb CS and Hb Q-Thailand.

Preparation and Characterization of Lignocellulosic Oil Sorbent by Hydrothermal Treatment of Populus Fiber

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Yue Zhang

2014-09-01

Full Text Available This study is aimed at achieving the optimum conditions of hydrothermal treatment and acetylation of Populus fiber to improve its oil sorption capacity (OSC in an oil-water mixture. The characteristics of the hydrolyzed and acetylated fibers were comparatively investigated by FT-IR, CP-MAS 13C-NMR, SEM and TGA. The optimum conditions of the hydrothermal treatment and acetylation were obtained at170 °C for 1 h and 120 °C for 2 h, respectively. The maximum OSC of the hydrolyzed fiber (16.78 g/g was slightly lower than that of the acetylated fiber (21.57 g/g, but they were both higher than the maximum OSC of the unmodified fiber (3.94 g/g. In addition, acetylation after hydrothermal treatment for the Populus fiber was unnecessary as the increment of the maximum OSC was only 3.53 g/g. The hydrolyzed and the acetylated Populus fibers both displayed a lumen orifice enabling a high oil entrapment. The thermal stability of the modified fibers was shown to be increased in comparison with that of the raw fiber. The hydrothermal treatment offers a new approach to prepare lignocellulosic oil sorbent.

High-throughput SNP genotyping in the highly heterozygous genome of Eucalyptus: assay success, polymorphism and transferability across species

Science.gov (United States)

2011-01-01

Background High-throughput SNP genotyping has become an essential requirement for molecular breeding and population genomics studies in plant species. Large scale SNP developments have been reported for several mainstream crops. A growing interest now exists to expand the speed and resolution of genetic analysis to outbred species with highly heterozygous genomes. When nucleotide diversity is high, a refined diagnosis of the target SNP sequence context is needed to convert queried SNPs into high-quality genotypes using the Golden Gate Genotyping Technology (GGGT). This issue becomes exacerbated when attempting to transfer SNPs across species, a scarcely explored topic in plants, and likely to become significant for population genomics and inter specific breeding applications in less domesticated and less funded plant genera. Results We have successfully developed the first set of 768 SNPs assayed by the GGGT for the highly heterozygous genome of Eucalyptus from a mixed Sanger/454 database with 1,164,695 ESTs and the preliminary 4.5X draft genome sequence for E. grandis. A systematic assessment of in silico SNP filtering requirements showed that stringent constraints on the SNP surrounding sequences have a significant impact on SNP genotyping performance and polymorphism. SNP assay success was high for the 288 SNPs selected with more rigorous in silico constraints; 93% of them provided high quality genotype calls and 71% of them were polymorphic in a diverse panel of 96 individuals of five different species. SNP reliability was high across nine Eucalyptus species belonging to three sections within subgenus Symphomyrtus and still satisfactory across species of two additional subgenera, although polymorphism declined as phylogenetic distance increased. Conclusions This study indicates that the GGGT performs well both within and across species of Eucalyptus notwithstanding its nucleotide diversity ≥2%. The development of a much larger array of informative SNPs across

Heterozygous Hfe gene deletion leads to impaired glucose homeostasis, but not liver injury in mice fed a high-calorie diet.

Science.gov (United States)

Britton, Laurence; Jaskowski, Lesley; Bridle, Kim; Santrampurwala, Nishreen; Reiling, Janske; Musgrave, Nick; Subramaniam, V Nathan; Crawford, Darrell

2016-06-01

Heterozygous mutations of the Hfe gene have been proposed as cofactors in the development and progression of nonalcoholic fatty liver disease (NAFLD). Homozygous Hfe deletion previously has been shown to lead to dysregulated hepatic lipid metabolism and accentuated liver injury in a dietary mouse model of NAFLD We sought to establish whether heterozygous deletion of Hfe is sufficient to promote liver injury when mice are exposed to a high-calorie diet (HCD). Eight-week-old wild-type and Hfe(+/-) mice received 8 weeks of a control diet or HCD Liver histology and pathways of lipid and iron metabolism were analyzed. Liver histology demonstrated that mice fed a HCD had increased NAFLD activity score (NAS), steatosis, and hepatocyte ballooning. However, liver injury was unaffected by Hfe genotype. Hepatic iron concentration (HIC) was increased in Hfe(+/-) mice of both dietary groups. HCD resulted in a hepcidin-independent reduction in HIC Hfe(+/-) mice demonstrated raised fasting serum glucose concentrations and HOMA-IR score, despite unaltered serum adiponectin concentrations. Downstream regulators of hepatic de novo lipogenesis (pAKT, SREBP-1, Fas, Scd1) and fatty acid oxidation (AdipoR2, Pparα, Cpt1) were largely unaffected by genotype. In summary, heterozygous Hfe gene deletion is associated with impaired iron and glucose metabolism. However, unlike homozygous Hfe deletion, heterozygous gene deletion did not affect lipid metabolism pathways or liver injury in this model. © 2016 The Authors. Physiological Reports published by Wiley Periodicals, Inc. on behalf of the American Physiological Society and The Physiological Society.

Populus species from diverse habitats maintain high night-time conductance under drought.

Science.gov (United States)

Cirelli, Damián; Equiza, María Alejandra; Lieffers, Victor James; Tyree, Melvin Thomas

2016-02-01

We investigated the interspecific variability in nocturnal whole-plant stomatal conductance under well-watered and drought conditions in seedlings of four species of Populus from habitats characterized by abundant water supply (mesic and riparian) or from drier upland sites. The study was carried out to determine whether (i) nocturnal conductance varies across different species of Populus according to their natural habitat, (ii) nocturnal conductance is affected by water stress similarly to daytime conductance based on species habitat and (iii) differences in conductance among species could be explained partly by differences in stomatal traits. We measured whole-plant transpiration and conductance (G) of greenhouse-grown seedlings using an automated high-resolution gravimetric technique. No relationship was found between habitat preference and daytime G (GD), but night-time G (GN) was on average 1.5 times higher in riparian and mesic species (P. deltoides Bartr. ex Marsh. and P. trichocarpa Torr. & Gray) than in those from drier environments (P. tremuloides Michx. and P. × petrowskyana Schr.). GN was not significantly reduced under drought in riparian species. Upland species restricted GN significantly in response to drought, but it was still at least one order of magnitude greater that the cuticular conductance until leaf death was imminent. Under both well-watered and drought conditions, GN declined with increasing vapour pressure deficit (D). Also, a small increase in GN towards the end of the night period was observed in P. deltoides and P. × petrowskyana, suggesting the involvement of endogenous regulation. The anatomical analyses indicated a positive correlation between G and variable stomatal pore index among species and revealed that stomata are not likely to be leaky but instead seem capable of complete occlusion, which raises the question of the possible physiological role of the significant GN observed under drought. Further comparisons among

Dense genetic linkage maps of three Populus species (Populus deltoides, P. nigra and P. trichocarpa) based on AFLP and microsatellite markers.

Science.gov (United States)

Cervera, M T; Storme, V; Ivens, B; Gusmão, J; Liu, B H; Hostyn, V; Van Slycken, J; Van Montagu, M; Boerjan, W

2001-06-01

Populus deltoides, P. nigra, and P. trichocarpa are the most important species for poplar breeding programs worldwide. In addition, Populus has become a model for fundamental research on trees. Linkage maps were constructed for these three species by analyzing progeny of two controlled crosses sharing the same female parent, Populus deltoides cv. S9-2 x P. nigra cv. Ghoy and P. deltoides cv. S9-2 x P. trichocarpa cv. V24. The two-way pseudotestcross mapping strategy was used to construct the maps. Amplified fragment length polymorphism (AFLP) markers that segregated 1:1 were used to form the four parental maps. Microsatellites and sequence-tagged sites were used to align homoeologous groups between the maps and to merge linkage groups within the individual maps. Linkage analysis and alignment of the homoeologous groups resulted in 566 markers distributed over 19 groups for P. deltoides covering 86% of the genome, 339 markers distributed over 19 groups for P. trichocarpa covering 73%, and 369 markers distributed over 28 groups for P. nigra covering 61%. Several tests for randomness showed that the AFLP markers were randomly distributed over the genome.

Differentiation of Populus species using chloroplast single nucleotide polymorphism (SNP) markers--essential for comprehensible and reliable poplar breeding.

Science.gov (United States)

Schroeder, H; Hoeltken, A M; Fladung, M

2012-03-01

Within the genus Populus several species belonging to different sections are cross-compatible. Hence, high numbers of interspecies hybrids occur naturally and, additionally, have been artificially produced in huge breeding programmes during the last 100 years. Therefore, determination of a single poplar species, used for the production of 'multi-species hybrids' is often difficult, and represents a great challenge for the use of molecular markers in species identification. Within this study, over 20 chloroplast regions, both intergenic spacers and coding regions, have been tested for their ability to differentiate different poplar species using 23 already published barcoding primer combinations and 17 newly designed primer combinations. About half of the published barcoding primers yielded amplification products, whereas the new primers designed on the basis of the total sequenced cpDNA genome of Populus trichocarpa Torr. & Gray yielded much higher amplification success. Intergenic spacers were found to be more variable than coding regions within the genus Populus. The highest discrimination power of Populus species was found in the combination of two intergenic spacers (trnG-psbK, psbK-psbl) and the coding region rpoC. In barcoding projects, the coding regions matK and rbcL are often recommended, but within the genus Populus they only show moderate variability and are not efficient in species discrimination. © 2011 German Botanical Society and The Royal Botanical Society of the Netherlands.

Stock characterization and improvement: DNA fingerprinting and cold tolerance of Populus and Salix clones

Energy Technology Data Exchange (ETDEWEB)

Lin, Dolly; Hubbes, M.; Zsuffa, L. [Toronto Univ., ON (Canada). Faculty of Forestry; Tsarouhas, V.; Gullberg, U. [Swedish Univ. of Agricultural Sciences, Uppsala (Sweden). Dept. of Forest Genetics; Howe, G.; Hackett, W.; Gardner, G.; Furnier, G. [Minnesota Univ., St. Paul, MN (United States). Dept. of Forest Resources; Tuskan, G. [Oak Ridge National Lab., TN (United States)

1998-12-31

Molecular characterization of advanced-generation pedigrees and evaluation of cold tolerance are two aspects of Populus and Salix genetic improvement programmes worldwide that have traditionally received little emphasis. As such, chloroplast DNA markers were tested as a means of determining multi-generation parental contributions to hybrid progeny. Likewise, greenhouse, growth chamber and field studies were used to assess cold tolerance in Populus and Salix. Chloroplast DNA markers did not reveal size polymorphisms among four tested Populus species, but did produce sequence polymorphisms between P. maximowiczii and P. trichocarpa. Additional crosses between multiple genotypes from each species are being used to evaluate the utility of the detected polymorphism for ascertaining parentage within interspecific crosses. Short-day, cold tolerance greenhouse studies revealed that bud set date and frost damage are moderately heritable and genetically correlated in Populus. The relationship between greenhouse and field studies suggests that factors other than short days contribute to cold tolerance in Populus. In Salix, response to artificial fall conditioning varied among full-sibling families, with the fastest growing family displaying the greatest amount of cold tolerance 26 refs, 3 tabs

Comparative interrogation of the developing xylem transcriptomes of two wood-forming species: Populus trichocarpa and Eucalyptus grandis.

Science.gov (United States)

Hefer, Charles A; Mizrachi, Eshchar; Myburg, Alexander A; Douglas, Carl J; Mansfield, Shawn D

2015-06-01

Wood formation is a complex developmental process governed by genetic and environmental stimuli. Populus and Eucalyptus are fast-growing, high-yielding tree genera that represent ecologically and economically important species suitable for generating significant lignocellulosic biomass. Comparative analysis of the developing xylem and leaf transcriptomes of Populus trichocarpa and Eucalyptus grandis together with phylogenetic analyses identified clusters of homologous genes preferentially expressed during xylem formation in both species. A conserved set of 336 single gene pairs showed highly similar xylem preferential expression patterns, as well as evidence of high functional constraint. Individual members of multi-gene orthologous clusters known to be involved in secondary cell wall biosynthesis also showed conserved xylem expression profiles. However, species-specific expression as well as opposite (xylem versus leaf) expression patterns observed for a subset of genes suggest subtle differences in the transcriptional regulation important for xylem development in each species. Using sequence similarity and gene expression status, we identified functional homologs likely to be involved in xylem developmental and biosynthetic processes in Populus and Eucalyptus. Our study suggests that, while genes involved in secondary cell wall biosynthesis show high levels of gene expression conservation, differential regulation of some xylem development genes may give rise to unique xylem properties. © 2015 The Authors. New Phytologist © 2015 New Phytologist Trust.

The differential response of photosynthesis to high temperature for a boreal and temperate Populus species relates to differences in Rubisco activation and Rubisco activase properties.

Science.gov (United States)

Hozain, Moh'd I; Salvucci, Michael E; Fokar, Mohamed; Holaday, A Scott

2010-01-01

Significant inhibition of photosynthesis occurs at temperatures only a few degrees (Populus species adapted to contrasting thermal environments for determining the factors that constrain photosynthetic assimilation (A) under moderate heat stress in tree species. Consistent with its native range in temperate regions, Populus deltoides Bartr. ex Marsh. exhibited a significantly higher temperature optimum for A than did Populus balsamifera L., a boreal species. The higher A exhibited by P. deltoides at 33-40 degrees C compared to that for P. balsamifera was associated with a higher activation state of Rubisco and correlated with a higher ATPase activity of Rubisco activase. The temperature response of minimal chlorophyll a fluorescence for darkened leaves was similar for both species and was not consistent with a thylakoid lipid phase change contributing to the decline in A in the range of 30-40 degrees C. Taken together, these data support the idea that the differences in the temperature response of A for the two Populus species could be attributed to the differences in the response of Rubisco activation and ultimately to the thermal properties of Rubisco activase. That the primary sequence of Rubisco activase differed between the species, especially in regions associated with ATPase activity and Rubisco recognition, indicates that the genotypic differences in Rubisco activase might underlie the differences in the heat sensitivity of Rubisco activase and photosynthesis at moderately high temperatures.

Phylogeny reconstruction and hybrid analysis of populus (Salicaceae) based on nucleotide sequences of multiple single-copy nuclear genes and plastid fragments.

Science.gov (United States)

Wang, Zhaoshan; Du, Shuhui; Dayanandan, Selvadurai; Wang, Dongsheng; Zeng, Yanfei; Zhang, Jianguo

2014-01-01

Populus (Salicaceae) is one of the most economically and ecologically important genera of forest trees. The complex reticulate evolution and lack of highly variable orthologous single-copy DNA markers have posed difficulties in resolving the phylogeny of this genus. Based on a large data set of nuclear and plastid DNA sequences, we reconstructed robust phylogeny of Populus using parsimony, maximum likelihood and Bayesian inference methods. The resulting phylogenetic trees showed better resolution at both inter- and intra-sectional level than previous studies. The results revealed that (1) the plastid-based phylogenetic tree resulted in two main clades, suggesting an early divergence of the maternal progenitors of Populus; (2) three advanced sections (Populus, Aigeiros and Tacamahaca) are of hybrid origin; (3) species of the section Tacamahaca could be divided into two major groups based on plastid and nuclear DNA data, suggesting a polyphyletic nature of the section; and (4) many species proved to be of hybrid origin based on the incongruence between plastid and nuclear DNA trees. Reticulate evolution may have played a significant role in the evolution history of Populus by facilitating rapid adaptive radiations into different environments.

Phylogeny reconstruction and hybrid analysis of populus (Salicaceae based on nucleotide sequences of multiple single-copy nuclear genes and plastid fragments.

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Zhaoshan Wang

Full Text Available Populus (Salicaceae is one of the most economically and ecologically important genera of forest trees. The complex reticulate evolution and lack of highly variable orthologous single-copy DNA markers have posed difficulties in resolving the phylogeny of this genus. Based on a large data set of nuclear and plastid DNA sequences, we reconstructed robust phylogeny of Populus using parsimony, maximum likelihood and Bayesian inference methods. The resulting phylogenetic trees showed better resolution at both inter- and intra-sectional level than previous studies. The results revealed that (1 the plastid-based phylogenetic tree resulted in two main clades, suggesting an early divergence of the maternal progenitors of Populus; (2 three advanced sections (Populus, Aigeiros and Tacamahaca are of hybrid origin; (3 species of the section Tacamahaca could be divided into two major groups based on plastid and nuclear DNA data, suggesting a polyphyletic nature of the section; and (4 many species proved to be of hybrid origin based on the incongruence between plastid and nuclear DNA trees. Reticulate evolution may have played a significant role in the evolution history of Populus by facilitating rapid adaptive radiations into different environments.

Mitochondrial DNA variation and genetic relationships of Populus species.

Science.gov (United States)

Barrett, J W; Rajora, O P; Yeh, F C; Dancik, B P; Strobeck, C

1993-02-01

We examined variation in and around the region coding for the cytochrome c oxidase I (coxI) and ATPase 6 (atp6) genes in the mitochondrial genomes of four Populus species (P. nigra, P. deltoides, P. maximowiczii, and P. tremuloides) and the natural hybrid P. x canadensis (P. deltoides x P. nigra). Total cellular DNAs of these poplars were digested with 16 restriction endonucleases and probed with maize mtDNA-specific probes (CoxI and Atp6). The only variant observed for Atp6 was interspecific, with P. maximowiczii separated from the other species as revealed by EcoRI digestions. No intraspecific mtDNA variation was observed among individuals of P. nigra, P. maximowiczii, P. x canadensis, or P. tremuloides for the CoxI probe. However, two varieties of P. deltoides were distinct because of a single site change in the KpnI digestions, demonstrating that P. deltoides var. deltoides (eastern cottonwood) and var. occidentalis (plains cottonwood) have distinct mitochondrial genomes in the region of the coxI gene. Populus x canadensis shared the same restriction fragment patterns as its suspected maternal parent P. deltoides. Nucleotide substitutions per base in and around the coxI and atp6 genes among the Populus species and the hybrid ranged from 0.0017 to 0.0077. The interspecific estimates of nucleotide substitution per base suggested that P. tremuloides was furthest removed from P. deltoides and P. x canadensis and least diverged from P. nigra. Populus maximowiczii was placed between these two clusters.

Penetrance of eye defects in mice heterozygous for mutation of Gli3 is enhanced by heterozygous mutation of Pax6

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Price David J

2006-10-01

Full Text Available Abstract Background Knowledge of the consequences of heterozygous mutations of developmentally important genes is important for understanding human genetic disorders. The Gli3 gene encodes a zinc finger transcription factor and homozygous loss-of-function mutations of Gli3 are lethal. Humans heterozygous for mutations in this gene suffer Greig cephalopolysyndactyly or Pallister-Hall syndromes, in which limb defects are prominent, and mice heterozygous for similar mutations have extra digits. Here we examined whether eye development, which is abnormal in mice lacking functional Gli3, is defective in Gli3+/- mice. Results We showed that Gli3 is expressed in the developing eye but that Gli3+/- mice have only very subtle eye defects. We then generated mice compound heterozygous for mutations in both Gli3 and Pax6, which encodes another developmentally important transcription factor known to be crucial for eye development. Pax6+/-; Gli3+/- eyes were compared to the eyes of wild-type, Pax6+/- or Gli3+/- siblings. They exhibited a range of abnormalities of the retina, iris, lens and cornea that was more extensive than in single Gli3+/- or Pax6+/- mutants or than would be predicted by addition of their phenotypes. Conclusion These findings indicate that heterozygous mutations of Gli3 can impact on eye development. The importance of a normal Gli3 gene dosage becomes greater in the absence of a normal Pax6 gene dosage, suggesting that the two genes co-operate during eye morphogenesis.

A Novel Double Heterozygous Hb D-Punjab/Hb J-Meerut Hemoglobinopathy.

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Chandra, Dinesh; Tyagi, Seema; Deka, Roopam; Chauhan, Richa; Seth, Tulika; Saxena, Renu; Pati, H P

2017-12-01

A comprehensive laboratory diagnosis of hemoglobinopathies forms an integral part in workup of disorders of globin chain synthesis. Clinical findings, complete blood counts, peripheral smear examination along with hemoglobin (Hb) electrophoresis and/or cation exchange high performance liquid chromatography findings and parental study helps to clinch a final diagnosis. Compound heterozygous hemoglobinopathy presents with variable clinical findings and some of them are picked up on screening tests done as part of routine antenatal workup. Here we report a rare double heterozygous hemoglobinopathy of Hb D-Punjab and Hb J-Meerut in a 35 year antenatal female.

Comparative physiology of allopatric Populus species: geographic clines in photosynthesis, height growth, and carbon isotope discrimination in common gardens.

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Soolanayakanahally, Raju Y; Guy, Robert D; Street, Nathaniel R; Robinson, Kathryn M; Silim, Salim N; Albrectsen, Benedicte R; Jansson, Stefan

2015-01-01

Populus species with wide geographic ranges display strong adaptation to local environments. We studied the clinal patterns in phenology and ecophysiology in allopatric Populus species adapted to similar environments on different continents under common garden settings. As a result of climatic adaptation, both Populus tremula L. and Populus balsamifera L. display latitudinal clines in photosynthetic rates (A), whereby high-latitude trees of P. tremula had higher A compared to low-latitude trees and nearly so in P. balsamifera (p = 0.06). Stomatal conductance (g s) and chlorophyll content index (CCI) follow similar latitudinal trends. However, foliar nitrogen was positively correlated with latitude in P. balsamifera and negatively correlated in P. tremula. No significant trends in carbon isotope composition of the leaf tissue (δ(13)C) were observed for both species; but, intrinsic water-use efficiency (WUEi) was negatively correlated with the latitude of origin in P. balsamifera. In spite of intrinsically higher A, high-latitude trees in both common gardens accomplished less height gain as a result of early bud set. Thus, shoot biomass was determined by height elongation duration (HED), which was well approximated by the number of days available for free growth between bud flush and bud set. We highlight the shortcoming of unreplicated outdoor common gardens for tree improvement and the crucial role of photoperiod in limiting height growth, further complicating interpretation of other secondary effects.

Thidiazuron: A potent cytokinin for efficient plant regeneration in Himalayan poplar (Populus ciliata Wall. using leaf explants

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Gaurav Aggarwal

2012-11-01

Full Text Available Populus species are important resource for certain branches of industry and have special roles for scientific study on biological and agricultural systems. The present investigation was undertaken with an objective of enhancing the frequency of plant regeneration in Himalayan poplar (Populus ciliata Wall.. The effect of Thiadizuron (TDZ alone and in combination with adenine and α-Naphthalene acetic acid (NAA were studied on the regeneration potential of leaf explants. A high efficiency of shoot regeneration was observed in leaf (80.00% explants on MS basal medium supplemented with 0.024 mg/l TDZ and 79.7 mg/l adenine. Elongation and multiplication of shoots were obtained on Murashige and Skoog (MS basal medium, containing 0.5 mg/l 6. Benzyl aminopurine (BAP + 0.2mg/l Indole 3-acetic acid (IAA + 0.3 mg/l Gibberellic acid (GA3. High frequency root regeneration from in vitro developed shoots was observed on MS basal medium supplemented with 0.10 mg/l Indole 3-butyric acid(IBA. Maximum of the in vitro rooted plantlets were well accomplished to the mixture of sand: soil (1:1 and exhibited similar morphology with the field plants. A high efficiency plant regeneration protocol has been developedfrom leaf explants in Himalayan poplar (Populus ciliata Wall..

High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.

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Out, Astrid A; van Minderhout, Ivonne J H M; van der Stoep, Nienke; van Bommel, Lysette S R; Kluijt, Irma; Aalfs, Cora; Voorendt, Marsha; Vossen, Rolf H A M; Nielsen, Maartje; Vasen, Hans F A; Morreau, Hans; Devilee, Peter; Tops, Carli M J; Hes, Frederik J

2015-06-01

Familial adenomatous polyposis is most frequently caused by pathogenic variants in either the APC gene or the MUTYH gene. The detection rate of pathogenic variants depends on the severity of the phenotype and sensitivity of the screening method, including sensitivity for mosaic variants. For 171 patients with multiple colorectal polyps without previously detectable pathogenic variant, APC was reanalyzed in leukocyte DNA by one uniform technique: high-resolution melting (HRM) analysis. Serial dilution of heterozygous DNA resulted in a lowest detectable allelic fraction of 6% for the majority of variants. HRM analysis and subsequent sequencing detected pathogenic fully heterozygous APC variants in 10 (6%) of the patients and pathogenic mosaic variants in 2 (1%). All these variants were previously missed by various conventional scanning methods. In parallel, HRM APC scanning was applied to DNA isolated from polyp tissue of two additional patients with apparently sporadic polyposis and without detectable pathogenic APC variant in leukocyte DNA. In both patients a pathogenic mosaic APC variant was present in multiple polyps. The detection of pathogenic APC variants in 7% of the patients, including mosaics, illustrates the usefulness of a complete APC gene reanalysis of previously tested patients, by a supplementary scanning method. HRM is a sensitive and fast pre-screening method for reliable detection of heterozygous and mosaic variants, which can be applied to leukocyte and polyp derived DNA.

Diversity of cuticular wax among Salix species and Populus species hybrids.

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Cameron, Kimberly D; Teece, Mark A; Bevilacqua, Eddie; Smart, Lawrence B

2002-08-01

The leaf cuticular waxes of three Salix species and two Populus species hybrids, selected for their ability to produce high amounts of biomass, were characterized. Samples were extracted in CH(2)Cl(2) three times over the growing season. Low kV SEM was utilized to observe differences in the ultrastructure of leaf surfaces from each clone. Homologous series of wax components were classified into organic groups, and the variation in wax components due to clone, sample time, and their interaction was identified. All Salix species and Populus species hybrids showed differences in total wax load at each sampling period, whereas the pattern of wax deposition over time differed only between the Salix species. A strong positive relationship was identified between the entire homologous series of alcohols and total wax load in all clones. Similarly strong relationships were observed between fatty acids and total wax load as well as fatty acids and alcohols in two Salix species and one Populus species hybrid. One Salix species, S. dasyclados, also displayed a strong positive relationship between alcohols and alkanes. These data indicate that species grown under the same environmental conditions produce measurably different cuticular waxes and that regulation of wax production appears to be different in each species. The important roles cuticular waxes play in drought tolerance, pest, and pathogen resistance, as well as the ease of wax extraction and analysis, strongly suggest that the characteristics of the cuticular wax may prove to be useful selectable traits in a breeding program.

Phytoremediation of landfill leachate using Populus

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Jill A. Zalesny; Ronald S., Jr. Zalesny; Adam H. Wiese; Richard B. Hall; Bart Sexton

2006-01-01

Proper genotype selection is required for successful phytoremediation. We selected eight Populus clones (NC13460, NC14018, DM115, NC14104, NC14106, DN5, NM2, NM6) of four genomic groups after three cycles of phyto-recurrent selection for a field trial that began June 2005 at the Oneida County Landfill in Rhinelander, WI, USA.

Biomass and genotype × environment interactions of Populus energy crops in the midwestern United States

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Ronald S., Jr. Zalesny; Richard B. Hall; Jill A. Zalesny; Bernard G. McMahon; William E. Berguson; Glen R. Stanosz

2009-01-01

Using Populus feedstocks for biofuels, bioenergy, and bioproducts is becoming economically feasible as global fossil fuel prices increase. Maximizing Populus biomass production across regional landscapes largely depends on understanding genotype × environment interactions, given broad genetic variation at strategic (...

Patterns of genetic diversity and differentiation in resistance gene clusters of two hybridizing European Populus species

OpenAIRE

Casey, Céline; Stölting, Kai N.; Barbará, Thelma; González-Martínez, Santiago C.; Lexer, Christian

2015-01-01

Resistance genes (R-genes) are essential for long-lived organisms such as forest trees, which are exposed to diverse herbivores and pathogens. In short-lived model species, R-genes have been shown to be involved in species isolation. Here, we studied more than 400 trees from two natural hybrid zones of the European Populus species Populus alba and Populus tremula for microsatellite markers located in three R-gene clusters, including one cluster situated in the incipient sex chromosome region....

Het geslacht Populus in verband met zijn beteekenis voor de houtteelt = The genus populus and its significance in silviculture

NARCIS (Netherlands)

Houtzagers, G.

1937-01-01

The genus Populus L. can be divided into 5 sections. This study deals with the classification and description of the species and varieties of the section Aigeiros Duby (black poplars), which contains almost all the important cultivated types in the Netherlands. The botanical information was

Kinetic modeling of batch fermentation for Populus hydrolysate tolerant mutant and wild type strains of Clostridium thermocellum.

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Linville, Jessica L; Rodriguez, Miguel; Mielenz, Jonathan R; Cox, Chris D

2013-11-01

The extent of inhibition of two strains of Clostridium thermocellum by a Populus hydrolysate was investigated. A Monod-based model of wild type (WT) and Populus hydrolysate tolerant mutant (PM) strains of the cellulolytic bacterium C. thermocellum was developed to quantify growth kinetics in standard media and the extent of inhibition to a Populus hydrolysate. The PM was characterized by a higher growth rate (μmax=1.223 vs. 0.571 h(-1)) and less inhibition (KI,gen=0.991 vs. 0.757) in 10% v/v Populus hydrolysate compared to the WT. In 17.5% v/v Populus hydrolysate inhibition of PM increased slightly (KI,gen=0.888), whereas the WT was strongly inhibited and did not grow in a reproducible manner. Of the individual inhibitors tested, 4-hydroxybenzoic acid was the most inhibitory, followed by galacturonic acid. The PM did not have a greater ability to detoxify the hydrolysate than the WT. Copyright © 2013 Elsevier Ltd. All rights reserved.

Multiple factors affect pest and pathogen damage on 31 Populus clones in South Carolina

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David R. Coyle; Mark D. Coleman; Jaclin A. Durant; Lee A. Newman

2006-01-01

Populus species and hybrids have many practical applications, but there is a paucity of data regarding selections that perform well in the southeastern US. We compared pest susceptibility of 31 Populus clones over 3 years in South Carolina, USA. Cuttings were planted in spring 2001 on two study sites. Clones planted in the...

HbA1c levels in individuals heterozygous for hemoglobin variants.

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Tavares, Ricardo Silva; Souza, Fábio Oliveira de; Francescantonio, Isabel Cristina Carvalho Medeiros; Soares, Weslley Carvalho; Mesquita, Mauro Meira

2017-04-01

To evaluate the levels of glycated hemoglobin (HbA1c) in patients heterozygous for hemoglobin variants and compare the results of this test with those of a control group. This was an experimental study based on the comparison of HbA1c tests in two different populations, with a test group represented by individuals heterozygous for hemoglobin variants (AS and AC) and a control group consisting of people with electrophoretic profile AA. The two populations were required to meet the following inclusion criteria: Normal levels of fasting glucose, hemoglobin, urea and triglycerides, bilirubin > 20 mg/dL and non-use of acetylsalicylic acid. 50 heterozygous subjects and 50 controls were evaluated between August 2013 and May 2014. The comparison of HbA1c levels between heterozygous individuals and control subjects was performed based on standard deviation, mean and G-Test. The study assessed a test group and a control group, both with 39 adults and 11 children. The mean among heterozygous adults for HbA1c was 5.0%, while the control group showed a rate of 5.74%. Heterozygous children presented mean HbA1c at 5.11%, while the controls were at 5.78%. G-Test yielded p=0.93 for children and p=0.89 for adults. Our study evaluated HbA1c using ion exchange chromatography resins, and the patients heterozygous for hemoglobin variants showed no significant difference from the control group.

Sodium and chloride accumulation in leaf, woody, and root tissue of Populus after irrigation with landfill leachate

International Nuclear Information System (INIS)

Zalesny, Jill A.; Zalesny, Ronald S.; Wiese, Adam H.; Sexton, Bart; Hall, Richard B.

2008-01-01

The response of Populus to irrigation sources containing elevated levels of sodium (Na + ) and chloride (Cl - ) is poorly understood. We irrigated eight Populus clones with fertilized well water (control) (N, P, K) or municipal solid waste landfill leachate weekly during 2005 and 2006 in Rhinelander, Wisconsin, USA (45.6 deg. N, 89.4 deg. W). During August 2006, we tested for differences in total Na + and Cl - concentration in preplanting and harvest soils, and in leaf, woody (stems + branches), and root tissue. The leachate-irrigated soils at harvest had the greatest Na + and Cl - levels. Genotypes exhibited elevated total tree Cl - concentration and increased biomass (clones NC14104, NM2, NM6), elevated Cl - and decreased biomass (NC14018, NC14106, DM115), or mid levels of Cl - and biomass (NC13460, DN5). Leachate tissue concentrations were 17 (Na + ) and four (Cl - ) times greater than water. Sodium and Cl - levels were greatest in roots and leaves, respectively. - Sodium and chloride supplied via landfill leachate irrigation is accumulated at high concentrations in tissues of Populus

Populus (Salicaceae plantations

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Gonzalo M. Romano

2013-01-01

Full Text Available Aunque los cultivos forestales son comunidades artificiales, modifican condiciones ambientales que pueden alterar la diversidad fúngica nativa. Se estudiaron los efectos del manejo forestal de una plantación de sauces (Salix y álamos (Populus sobre la biodiversidad de Agaromycetes durante un año en una isla del Delta del Paraná, Argentina. Se midieron el peso seco y el número de basidiomas. Se identificaron 28 especies pertenecientes a los Agaricomycetes: 26 especies de Agaricales, una de Polyporales y una de Russulales. Nuestros resultados sugieren que el manejo forestal de dicha plantación no afecta la abundancia ni la diversidad de basidiomas de Agaricomycetes.

Chloride and sodium uptake potential over an entire rotation of Populus irrigated with landfill leachate

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Jill A. Zalesny; Ronald S., Jr. Zalesny

2009-01-01

There is a need for information about the response of Populus genotypes to repeated application of high-salinity water and nutrient sources throughout an entire rotation. We have combined establishment biomass and uptake data with mid- and full-rotation growth data to project potential chloride (Cl−) and sodium (Na...

Insertional mutagenesis in Populus: relevance and feasibility

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Victor Busov; Matthias Fladung; Andrew Groover; Steven Strauss

2005-01-01

The recent sequencing of the first tree genome, that of the black cottonwood (Populus trichocarpa), opens a new chapter in tree functional genomics. While the completion of the genome is a milestone, mobilizing this significant resource for better understanding the growth and development of woody perennials will be an even greater undertaking in the...

Micropropagation, genetic engineering, and molecular biology of Populus

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N. B. Klopfenstein; Y. W. Chun; M. -S. Kim; M. A. Ahuja; M. C. Dillon; R. C. Carman; L. G. Eskew

1997-01-01

Thirty-four Populus biotechnology chapters, written by 85 authors, are comprised in 5 sections: 1) in vitro culture (micropropagation, somatic embryogenesis, protoplasts, somaclonal variation, and germplasm preservation); 2) transformation and foreign gene expression; 3) molecular biology (molecular/genetic characterization); 4) biotic and abiotic resistance (disease,...

Modulation of repetitive genes in the parent forms of heterozygous corn hybrids

International Nuclear Information System (INIS)

Gilyazetdinov, S.Ya.; Zimnitskii, A.N.; Yakhin, I.A.; Bikbaeva, E.S.

1987-01-01

The number of copies of the genes of high-molecular-weight rRNA, 5 S r RNA, and certain other families of repetitive sequences of DNA in the genome of different forms of corn is not coordinated but is stably inherited in the same strains. The authors present the results of their investigations into the repetition of the genes of tRNA, 5 S rRNA, histones, and the controlling element Ds of corn for the highly heterozygous hybrid Slava (VIR 44 x VIR 38), the medium-heterozygous hybrid Svetoch (VIR 40 x VIR 43), the low heterozygous hybrid Iskra (VIR 26 x VIR 27), and their parent strains. The relative content of these sequences was studied by the molecular hybridization of DNA immobilized on nitrocellulose filters with [ 125 I]tRNA labeled in vitro, 5 S rRNA, histone DNA of Drosophila, and the Ds-element of corn. The DNA preparations were isolated from the zones of the meristem (1.5-2mm), elongation (4-5mm), differentiation of the roots (3 cm), of 3-4 day seedlings, and from isolated embryos of 4 h and 24 h seedlings. The DNA of the embryos immobilized on the filters was preliminarily incubated with unlabeled high-molecular-weight rRNA in the experiments with tRNA and 5 S rRNA, while when histone DNA and the Ds element of corn were used in the hybridization reaction, it was preliminary incubated with plasmid DNA

Identification of Quantitative Trait Loci (QTL) and Candidate Genes for Cadmium Tolerance in Populus

Energy Technology Data Exchange (ETDEWEB)

Induri, Brahma R [West Virginia University; Ellis, Danielle R [West Virginia University; Slavov, Gancho [West Virginia University; Yin, Tongming [ORNL; Muchero, Wellington [ORNL; Tuskan, Gerald A [ORNL; DiFazio, Stephen P [West Virginia University

2012-01-01

Knowledge of genetic variation in response of Populus to heavy metals like cadmium (Cd) is an important step in understanding the underlying mechanisms of tolerance. In this study, a pseudo-backcross pedigree of Populus trichocarpa and Populus deltoides was characterized for Cd exposure. The pedigree showed significant variation for Cd tolerance thus enabling the identification of relatively tolerant and susceptible genotypes for intensive characterization. A total of 16 QTLs at logarithm of odds (LOD) ratio > 2.5, were found to be associated with total dry weight, its components, and root volume. Four major QTLs for total dry weight were mapped to different linkage groups in control (LG III) and Cd conditions (LG XVI) and had opposite allelic effects on Cd tolerance, suggesting that these genomic regions were differentially controlled. The phenotypic variation explained by Cd QTL for all traits under study varied from 5.9% to 11.6% and averaged 8.2% across all QTL. Leaf Cd contents also showed significant variation suggesting the phytoextraction potential of Populus genotypes, though heritability of this trait was low (0.22). A whole-genome microarray study was conducted by using two genotypes with extreme responses for Cd tolerance in the above study and differentially expressed genes were identified. Candidate genes including CAD2 (CADMIUM SENSITIVE 2), HMA5 (HEAVY METAL ATPase5), ATGTST1 (Arabidopsis thaliana Glutathione S-Transferase1), ATGPX6 (Glutathione peroxidase 6), and ATMRP 14 (Arabidopsis thaliana Multidrug Resistance associated Protein 14) were identified from QTL intervals and microarray study. Functional characterization of these candidate genes could enhance phytoremediation capabilities of Populus.

Characterization of Heterozygous HTRA1 Mutations in Taiwanese Patients With Cerebral Small Vessel Disease.

Science.gov (United States)

Lee, Yi-Chung; Chung, Chih-Ping; Chao, Nai-Chen; Fuh, Jong-Ling; Chang, Feng-Chi; Soong, Bing-Wing; Liao, Yi-Chu

2018-07-01

Homozygous and compound heterozygous mutations in the high temperature requirement serine peptidase A1 gene ( HTRA1 ) cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. However, heterozygous HTRA1 mutations were recently identified to be associated with autosomal dominant cerebral small vessel disease (SVD). The present study aims at investigating the clinical features, frequency, and spectrum of HTRA1 mutations in a Taiwanese cohort with SVD. Mutational analyses of HTRA1 were performed by Sanger sequencing in 222 subjects, selected from a cohort of 337 unrelated patients with SVD after excluding those harboring a NOTCH3 mutation. The influence of these mutations on HTRA1 protease activities was characterized. Seven novel heterozygous mutations in HTRA1 were identified, including p.Gly120Asp, p.Ile179Asn, p.Ala182Profs*33, p.Ile256Thr, p.Gly276Ala, p.Gln289Ter, and p.Asn324Thr, and each was identified in 1 single index patient. All mutations significantly compromise the HTRA1 protease activities. For the 7 index cases and another 2 affected siblings carrying a heterozygous HTRA1 mutation, the common clinical presentations include lacunar infarction, intracerebral hemorrhage, cognitive decline, and spondylosis at the fifth to sixth decade of life. Among the 9 patients, 4 have psychiatric symptoms as delusion, depression, and compulsive behavior, 3 have leukoencephalopathy in anterior temporal poles, and 2 patients have alopecia. Heterozygous HTRA1 mutations account for 2.08% (7 of 337) of SVD in Taiwan. The clinical and neuroradiological features of HTRA1 -related SVD and sporadic SVD are similar. These findings broaden the mutational spectrum of HTRA1 and highlight the pathogenic role of heterozygous HTRA1 mutations in SVD. © 2018 American Heart Association, Inc.

Increasing the productivity of biomass plantations of Populus species and hybrids in the Pacific Northwest. Final report, September 14, 1981--December 31, 1996

Energy Technology Data Exchange (ETDEWEB)

DeBell, D.S.; Harrington, C.A.; Clendenen, G.W. [USDA Forest Service, Olympia, WA (United States)] [and others

1997-08-01

This final report represents the culmination of eight years of biological research devoted to increasing the productivity of short rotation plantations of Populus trichocarpa and Populus hybrids in the Pacific Northwest. Studies described herein provide an understanding of tree growth, stand development and biomass yield at various spacings, and how patterns thereof differ by Populus clone in monoclonal and polyclonal plantings. Also included is some information about factors related to wind damage in Populus plantings, use of leaf size as a predictor of growth potential, and approaches for estimating tree and stand biomass and biomass growth. The work was accomplished in three research plantations, all established cooperatively with the Washington State Department of Natural Resources (DNR) and located at the DNR Tree Improvement Center near Olympia. The first plantation was established in Spring 1986 to evaluate the highly touted {open_quotes}woodgrass{close_quotes} concept and compare it with more conventional short-rotation management regimes, using two Populus hybrid clones planted at five spacings. Besides providing scientific data to resolve the politicized {open_quotes}wood-grass{close_quotes} dispute, this plantation has furnished excellent data on stand dynamics and woody biomass yield. A second plantation was established at the same time; groups of trees therein received two levels of irrigation and different amounts of four fertilizer amendments, resulting in microsites with diverse moisture and nutrient conditions.

Effects of Clone, Silvicultural, and Miticide Treatments on Cottonwood Leafcurl Mite (Acari: Eriophyidae) Damage in Plantation Populus

Science.gov (United States)

David R. Coyle

2002-01-01

Aculops lobuliferus (Keifer) is a little known pest of plantation Populus spp., which is capable of causing substantial damage. This is the First documented occurrence of A. lobuliferus in South Carolina. Previous anecdotal data indicated clonal variation in Populus susceptibility to A...

Genetic analysis of post-mating reproductive barriers in hybridizing European Populus species.

Science.gov (United States)

Macaya-Sanz, D; Suter, L; Joseph, J; Barbará, T; Alba, N; González-Martínez, S C; Widmer, A; Lexer, C

2011-10-01

Molecular genetic analyses of experimental crosses provide important information on the strength and nature of post-mating barriers to gene exchange between divergent populations, which are topics of great interest to evolutionary geneticists and breeders. Although not a trivial task in long-lived organisms such as trees, experimental interspecific recombinants can sometimes be created through controlled crosses involving natural F(1)'s. Here, we used this approach to understand the genetics of post-mating isolation and barriers to introgression in Populus alba and Populus tremula, two ecologically divergent, hybridizing forest trees. We studied 86 interspecific backcross (BC(1)) progeny and >350 individuals from natural populations of these species for up to 98 nuclear genetic markers, including microsatellites, indels and single nucleotide polymorphisms, and inferred the origin of the cytoplasm of the cross with plastid DNA. Genetic analysis of the BC(1) revealed extensive segregation distortions on six chromosomes, and >90% of these (12 out of 13) favored P. tremula donor alleles in the heterospecific genomic background. Since selection was documented during early diploid stages of the progeny, this surprising result was attributed to epistasis, cyto-nuclear coadaptation, heterozygote advantage at nuclear loci experiencing introgression or a combination of these. Our results indicate that gene flow across 'porous' species barriers affects these poplars and aspens beyond neutral, Mendelian expectations and suggests the mechanisms responsible. Contrary to expectations, the Populus sex determination region is not protected from introgression. Understanding the population dynamics of the Populus sex determination region will require tests based on natural interspecific hybrid zones.

Glycosylation-mediated phenylpropanoid partitioning in Populus tremuloides cell cultures

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Babst Benjamin A

2009-12-01

Full Text Available Abstract Background Phenylpropanoid-derived phenolic glycosides (PGs and condensed tannins (CTs comprise large, multi-purpose non-structural carbon sinks in Populus. A negative correlation between PG and CT concentrations has been observed in several studies. However, the molecular mechanism underlying the relationship is not known. Results Populus cell cultures produce CTs but not PGs under normal conditions. Feeding salicyl alcohol resulted in accumulation of salicins, the simplest PG, in the cells, but not higher-order PGs. Salicin accrual reflected the stimulation of a glycosylation response which altered a number of metabolic activities. We utilized this suspension cell feeding system as a model for analyzing the possible role of glycosylation in regulating the metabolic competition between PG formation, CT synthesis and growth. Cells accumulated salicins in a dose-dependent manner following salicyl alcohol feeding. Higher feeding levels led to a decrease in cellular CT concentrations (at 5 or 10 mM, and a negative effect on cell growth (at 10 mM. The competition between salicin and CT formation was reciprocal, and depended on the metabolic status of the cells. We analyzed gene expression changes between controls and cells fed with 5 mM salicyl alcohol for 48 hr, a time point when salicin accumulation was near maximum and CT synthesis was reduced, with no effect on growth. Several stress-responsive genes were up-regulated, suggestive of a general stress response in the fed cells. Salicyl alcohol feeding also induced expression of genes associated with sucrose catabolism, glycolysis and the Krebs cycle. Transcript levels of phenylalanine ammonia lyase and most of the flavonoid pathway genes were reduced, consistent with down-regulated CT synthesis. Conclusions Exogenous salicyl alcohol was readily glycosylated in Populus cell cultures, a process that altered sugar utilization and phenolic partitioning in the cells. Using this system, we

Expression Patterns of ERF Genes Underlying Abiotic Stresses in Di-Haploid Populus simonii × P. nigra

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Shengji Wang

2014-01-01

Full Text Available 176 ERF genes from Populus were identified by bioinformatics analysis, 13 of these in di-haploid Populus simonii × P. nigra were investigate by real-time RT-PCR, the results demonstrated that 13 ERF genes were highly responsive to salt stress, drought stress and ABA treatment, and all were expressed in root, stem, and leaf tissues, whereas their expression levels were markedly different in the various tissues. In roots, PthERF99, 110, 119, and 168 were primarily downregulated under drought and ABA treatment but were specifically upregulated under high salt condition. Interestingly, in poplar stems, all ERF genes showed the similar trends in expression in response to NaCl stress, drought stress, and ABA treatment, indicating that they may not play either specific or unique roles in stems in abiotic stress responses. In poplar leaves, PthERF168 was highly induced by ABA treatment, but was suppressed by high salinity and drought stresses, implying that PthERF168 participated in the ABA signaling pathway. The results of this study indicated that ERF genes could play essential but distinct roles in various plant tissues in response to different environment cues and hormonal treatment.

A novel double heterozygous Hb Fontainebleau/HbD Punjab hemoglobinopathy.

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Rodríguez-Capote, Karina; Estey, Mathew P; Barakauskas, Vilte; Bordeleau, Pierre; Christensen, Cathie-Lou; Zuberbuhler, Peter; Higgins, Trefor N

2015-09-01

To report the finding of a novel double heterozygous hemoglobinopathy, the coinheritance of Hb Fontainebleau (α-chain variant) with HbD-Punjab (β-chain variant) discovered upon investigation of unexplained microcytosis in an infant. Hemoglobinopathy investigation was performed by high performance liquid chromatography (HPLC) using the β-thalassemia Short Program on the Bio-Rad Variant II(TM) followed by gel electrophoresis at alkaline and acid pH (Sebia Hydrasys 2 Electrophoresis System) and molecular diagnostic testing. This study complied with our institutional board ethics requirements. HPLC and electrophoresis suggested a complex α- and β-chain hemoglobinopathy with presumptive identification of the beta Hb variant as Hb D-Punjab. DNA sequencing analysis revealed the presence of a double heterozygous status for Hb Fontainebleau/Hb D-Punjab. In this paper we report the coinheritance of Hb Fontainebleau with Hb D-Punjab. Copyright © 2015 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

Successful grafting in poplar species (Populus spp.) breeding

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A. Assibi Mahama; Brian Sparks; Ronald S., Zalesny; Richard B. Hall

2006-01-01

Poor rooting of Populus deltoides Bartr. ex Marsh hardwood cuttings often has contributed to delays in breeding progress as a result of failures of scion wood before and/or after pollination. Seventeen clones were used, and the study was conducted in the greenhouse to test an "intervenous feeding" (IV) method, along with three different...

Behavioral and electrophysiological characterization of Dyt1 heterozygous knockout mice.

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Yokoi, Fumiaki; Chen, Huan-Xin; Dang, Mai Tu; Cheetham, Chad C; Campbell, Susan L; Roper, Steven N; Sweatt, J David; Li, Yuqing

2015-01-01

DYT1 dystonia is an inherited movement disorder caused by mutations in DYT1 (TOR1A), which codes for torsinA. Most of the patients have a trinucleotide deletion (ΔGAG) corresponding to a glutamic acid in the C-terminal region (torsinA(ΔE)). Dyt1 ΔGAG heterozygous knock-in (KI) mice, which mimic ΔGAG mutation in the endogenous gene, exhibit motor deficits and deceased frequency of spontaneous excitatory post-synaptic currents (sEPSCs) and normal theta-burst-induced long-term potentiation (LTP) in the hippocampal CA1 region. Although Dyt1 KI mice show decreased hippocampal torsinA levels, it is not clear whether the decreased torsinA level itself affects the synaptic plasticity or torsinA(ΔE) does it. To analyze the effect of partial torsinA loss on motor behaviors and synaptic transmission, Dyt1 heterozygous knock-out (KO) mice were examined as a model of a frame-shift DYT1 mutation in patients. Consistent with Dyt1 KI mice, Dyt1 heterozygous KO mice showed motor deficits in the beam-walking test. Dyt1 heterozygous KO mice showed decreased hippocampal torsinA levels lower than those in Dyt1 KI mice. Reduced sEPSCs and normal miniature excitatory post-synaptic currents (mEPSCs) were also observed in the acute hippocampal brain slices from Dyt1 heterozygous KO mice, suggesting that the partial loss of torsinA function in Dyt1 KI mice causes action potential-dependent neurotransmitter release deficits. On the other hand, Dyt1 heterozygous KO mice showed enhanced hippocampal LTP, normal input-output relations and paired pulse ratios in the extracellular field recordings. The results suggest that maintaining an appropriate torsinA level is important to sustain normal motor performance, synaptic transmission and plasticity. Developing therapeutics to restore a normal torsinA level may help to prevent and treat the symptoms in DYT1 dystonia.

Behavioral and electrophysiological characterization of Dyt1 heterozygous knockout mice.

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Fumiaki Yokoi

Full Text Available DYT1 dystonia is an inherited movement disorder caused by mutations in DYT1 (TOR1A, which codes for torsinA. Most of the patients have a trinucleotide deletion (ΔGAG corresponding to a glutamic acid in the C-terminal region (torsinA(ΔE. Dyt1 ΔGAG heterozygous knock-in (KI mice, which mimic ΔGAG mutation in the endogenous gene, exhibit motor deficits and deceased frequency of spontaneous excitatory post-synaptic currents (sEPSCs and normal theta-burst-induced long-term potentiation (LTP in the hippocampal CA1 region. Although Dyt1 KI mice show decreased hippocampal torsinA levels, it is not clear whether the decreased torsinA level itself affects the synaptic plasticity or torsinA(ΔE does it. To analyze the effect of partial torsinA loss on motor behaviors and synaptic transmission, Dyt1 heterozygous knock-out (KO mice were examined as a model of a frame-shift DYT1 mutation in patients. Consistent with Dyt1 KI mice, Dyt1 heterozygous KO mice showed motor deficits in the beam-walking test. Dyt1 heterozygous KO mice showed decreased hippocampal torsinA levels lower than those in Dyt1 KI mice. Reduced sEPSCs and normal miniature excitatory post-synaptic currents (mEPSCs were also observed in the acute hippocampal brain slices from Dyt1 heterozygous KO mice, suggesting that the partial loss of torsinA function in Dyt1 KI mice causes action potential-dependent neurotransmitter release deficits. On the other hand, Dyt1 heterozygous KO mice showed enhanced hippocampal LTP, normal input-output relations and paired pulse ratios in the extracellular field recordings. The results suggest that maintaining an appropriate torsinA level is important to sustain normal motor performance, synaptic transmission and plasticity. Developing therapeutics to restore a normal torsinA level may help to prevent and treat the symptoms in DYT1 dystonia.

Genome-Wide Analysis of a TaLEA-Introduced Transgenic Populus simonii × Populus nigra Dwarf Mutant

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Jing Jiang

2012-03-01

Full Text Available A dwarf mutant (dwf1 was obtained among 15 transgenic lines, when TaLEA (Tamarix androssowii late embryogenesis abundant gene was introduced into Populus simonii × Populus nigra by Agrobacterium tumefaciens-mediated transformation. Under the same growth conditions, dwf1 height was significantly reduced compared with the wild type and the other transgenic lines. Because only one transgenic line (dwf1 displayed the dwarf phenotype, we considered that T-DNA insertion sites may play a role in the mutant formation. The mechanisms underlying this effect were investigated using TAIL-PCR (thermal asymmetric interlaced PCR and microarrays methods. According to the TAIL-PCR results, two flanking sequences located on chromosome IV and VIII respectively, were cloned. The results indicated the integration of two independent T-DNA copies. We searched for the potential genes near to the T-DNA insertions. The nearest gene was a putative poplar AP2 transcription factor (GI: 224073210. Expression analysis showed that AP2 was up-regulated in dwf1 compared with the wild type and the other transgenic lines. According to the microarrays results, a total of 537 genes involved in hydrolase, kinase and transcription factor activities, as well as protein and nucleotide binding, showed significant alterations in gene expression. These genes were expressed in more than 60 metabolic pathways, including starch, sucrose, galactose and glycerolipid metabolism and phenylpropanoids and flavonoid biosyntheses. Our transcriptome and T-DNA insertion sites analyses might provide some useful insights into the dwarf mutant formation.

PHYTOREMEDIATION OF CHLORPYRIFOS BY POPULUS AND SALIX

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Young Lee, Keum; Strand, Stuart E.; Doty, Sharon L.

2012-01-01

Chlorpyrifos is one of the commonly used organophosphorus insecticides that are implicated in serious environmental and human health problems. To evaluate plant potential for uptake of chlorpyrifos, several plant species of poplar (Populus sp.) and willow (Salix sp.) were investigated. Chlorpyrifos was taken up from nutrient solution by all seven plant species. Significant amounts of chlorpyrifos accumulated in plant tissues, and roots accumulated higher concentrations of chlorpyrifos than di...

Evaluation of Populus and Salix continuously irrigated with landfill leachate I. Genotype-specific elemental phytoremediation.

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Zalesny, Ronald S; Bauer, Edmund O

2007-01-01

There is a need for the identification and selection of specific tree genotypes that can sequester elements from contaminated soils, with elevated rates of uptake. We irrigated Populus (DN17, DN182, DN34, NM2, NM6) and Salix (94003, 94012, S287, S566, SX61) genotypes planted in large soil-filled containers with landfill leachate or municipal water and tested for differences in inorganic element concentrations (P, K, Ca, Mg, S, Zn, B, Mn, Fe, Cu, Al, Na, and Cl) in the leaves, stems, and roots. Trees were irrigated with leachate or water during the final 12 wk of the 18-wk study. Genotype-specific uptake existed. For genera, tissue concentrations exhibited four responses. First, Populus had the greatest uptake of P, K, S, Cu, and Cl. Second, Salix exhibited the greatest uptake of Zn, B, Fe, and Al. Third, Salix had greater concentrations of Ca and Mg in leaves, while Populus had greater concentrations in stems and roots. Fourth, Populus had greater concentrations of Mn and Na in leaves and stems, while Salix had greater concentrations in roots. Populus deltoides x P. nigra clones exhibited better overall phytoremediation than the P. nigra x P. maximowiczii genotypes tested. Phytoremediation for S. purpurea clones 94003 and 94012 was generally less than for other Salix genotypes. Overall, concentrations of elements in the leaves, stems, and roots corroborated those in the plant-sciences literature. Uptake was dependent upon the specific genotype for most elements. Our results corroborated the need for further testing and selecting of specific clones for various phytoremediation needs, while providing a baseline for future researchers developing additional studies and resource managers conducting on-site remediation.

Isolation and characterization of cDNAs encoding leucoanthocyanidin reductase and anthocyanidin reductase from Populus trichocarpa.

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Lijun Wang

Full Text Available Proanthocyanidins (PAs contribute to poplar defense mechanisms against biotic and abiotic stresses. Transcripts of PA biosynthetic genes accumulated rapidly in response to infection by the fungus Marssonina brunnea f.sp. multigermtubi, treatments of salicylic acid (SA and wounding, resulting in PA accumulation in poplar leaves. Anthocyanidin reductase (ANR and leucoanthocyanidin reductase (LAR are two key enzymes of the PA biosynthesis that produce the main subunits: (+-catechin and (--epicatechin required for formation of PA polymers. In Populus, ANR and LAR are encoded by at least two and three highly related genes, respectively. In this study, we isolated and functionally characterized genes PtrANR1 and PtrLAR1 from P. trichocarpa. Phylogenetic analysis shows that Populus ANR1 and LAR1 occurr in two distinct phylogenetic lineages, but both genes have little difference in their tissue distribution, preferentially expressed in roots. Overexpression of PtrANR1 in poplar resulted in a significant increase in PA levels but no impact on catechin levels. Antisense down-regulation of PtrANR1 showed reduced PA accumulation in transgenic lines, but increased levels of anthocyanin content. Ectopic expression of PtrLAR1 in poplar positively regulated the biosynthesis of PAs, whereas the accumulation of anthocyanin and flavonol was significantly reduced (P<0.05 in all transgenic plants compared to the control plants. These results suggest that both PtrANR1 and PtrLAR1 contribute to PA biosynthesis in Populus.

Neurochemical and behavioral characterization of neuronal glutamate transporter EAAT3 heterozygous mice

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Luis F. González

2017-10-01

Full Text Available Abstract Background Obsessive–compulsive disorder (OCD is a severe neuropsychiatric condition affecting 1–3% of the worldwide population. OCD has a strong genetic component, and the SLC1A1 gene that encodes neuronal glutamate transporter EAAT3 is a strong candidate for this disorder. To evaluate the impact of reduced EAAT3 expression in vivo, we studied male EAAT3 heterozygous and wild-type littermate mice using a battery of behavioral paradigms relevant to anxiety (open field test, elevated plus maze and compulsivity (marble burying, as well as locomotor activity induced by amphetamine. Using high-performance liquid chromatography, we also determined tissue neurotransmitter levels in cortex, striatum and thalamus—brain areas that are relevant to OCD. Results Compared to wild-type littermates, EAAT3 heterozygous male mice have unaltered baseline anxiety-like, compulsive-like behavior and locomotor activity. Administration of acute amphetamine (5 mg/kg intraperitoneally increased locomotion with no differences across genotypes. Tissue levels of glutamate, GABA, dopamine and serotonin did not vary between EAAT3 heterozygous and wild-type mice. Conclusions Our results indicate that reduced EAAT3 expression does not impact neurotransmitter content in the corticostriatal circuit nor alter anxiety or compulsive-like behaviors.

Whole Genome Sequence of the Heterozygous Clinical Isolate Candida krusei 81-B-5

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Christina A. Cuomo

2017-09-01

Full Text Available Candida krusei is a diploid, heterozygous yeast that is an opportunistic fungal pathogen in immunocompromised patients. This species also is utilized for fermenting cocoa beans during chocolate production. One major concern in the clinical setting is the innate resistance of this species to the most commonly used antifungal drug fluconazole. Here, we report a high-quality genome sequence and assembly for the first clinical isolate of C. krusei, strain 81-B-5, into 11 scaffolds generated with PacBio sequencing technology. Gene annotation and comparative analysis revealed a unique profile of transporters that could play a role in drug resistance or adaptation to different environments. In addition, we show that, while 82% of the genome is highly heterozygous, a 2.0 Mb region of the largest scaffold has undergone loss of heterozygosity. This genome will serve as a reference for further genetic studies of this pathogen.

Diversification and expression of the PIN, AUX/LAX and ABCB families of putative auxin transporters in Populus

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Nicola eCarraro

2012-02-01

Full Text Available Intercellular transport of the plant hormone auxin is mediated by three families of membrane-bound protein carriers, with the PIN and ABCB families coding primarily for efflux proteins and the AUX/LAX family coding for influx proteins. In the last decade our understanding of gene and protein function for these transporters in Arabidopsis has expanded rapidly but very little is known about their role in woody plant development. Here we present a comprehensive account of all three families in the model woody species Populus, including chromosome distribution, protein structure, quantitative gene expression, and evolutionary relationships. The PIN and AUX/LAX gene families in Populus comprise 16 and 8 members respectively, and show evidence for the retention of paralogs following a relatively recent whole genome duplication. There is also evidence for differential expression across tissues within many gene pairs. The ABCB family is previously undescribed in Populus and includes 20 members, showing a much deeper evolutionary history including both tandem and whole genome duplication as well as probable loss. A striking number of these transporters are expressed in developing Populus stems and we suggest that evolutionary and structural relationships with known auxin transporters in Arabidopsis can point toward candidate genes for further study in Populus. This is especially important for the ABCBs, which is a large family and includes members in Arabidopsis that are able to transport other substrates in addition to auxin. Protein modeling, sequence alignment and expression data all point to ABCB1.1 as a likely auxin transport protein in Populus. Given that basipetal auxin flow through the cambial zone shapes the development of woody stems, it is important that we identify the full complement of proteins involved in this process. This work should lay the foundation for studies targeting specific proteins for functional characterization and in situ

Shifting dominance of riparian Populus and Tamarix along gradients of flow alteration in western North American rivers.

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Merritt, David M; Poff, N LeRoy

2010-01-01

Tamarix ramosissima is a naturalized, nonnative plant species which has become widespread along riparian corridors throughout the western United States. We test the hypothesis that the distribution and success of Tamarix result from human modification of river-flow regimes. We conducted a natural experiment in eight ecoregions in arid and semiarid portions of the western United States, measuring Tamarix and native Populus recruitment and abundance at 64 sites along 13 perennial rivers spanning a range of altered flow regimes. We quantified biologically relevant attributes of flow alteration as an integrated measure (the index of flow modification, IFM), which was then used to explain between-site variation in abundance and recruitment of native and nonnative riparian plant species. We found the likelihood of successful recruitment of Tamarix to be highest along unregulated river reaches and to remain high across a gradient of regulated flows. Recruitment probability for Populus, in contrast, was highest under free-flowing conditions and declined abruptly under even slight flow modification (IFM > 0.1). Adult Tamarix was most abundant at intermediate levels of IFM. Populus abundance declined sharply with modest flow regulation (IFM > 0.2) and was not present at the most flow-regulated sites. Dominance of Tamarix was highest along rivers with the most altered flow regimes. At the 16 least regulated sites, Tamarix and Populus were equally abundant. Given observed patterns of Tamarix recruitment and abundance, we infer that Tamarix would likely have naturalized, spread, and established widely in riparian communities in the absence of dam construction, diversions, and flow regulation in western North America. However, Tamarix dominance over native species would likely be less extensive in the absence of human alteration of river-flow regimes. Restoration that combines active mechanical removal of established stands of Tamarix with a program of flow releases conducive to

Creation and genomic analysis of irradiation hybrids in Populus

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Matthew S. Zinkgraf; K. Haiby; M.C. Lieberman; L. Comai; I.M. Henry; Andrew Groover

2016-01-01

Establishing efficient functional genomic systems for creating and characterizing genetic variation in forest trees is challenging. Here we describe protocols for creating novel gene-dosage variation in Populus through gamma-irradiation of pollen, followed by genomic analysis to identify chromosomal regions that have been deleted or inserted in...

Trinucleotide repeat microsatellite markers for Black Poplar (Populus nigra L.)

NARCIS (Netherlands)

Smulders, M.J.M.; Schoot, van der J.; Arens, P.; Vosman, B.

2001-01-01

Using an enrichment procedure, we have cloned microsatellite repeats from black poplar (Populus nigra L.) and developed primers for microsatellite marker analysis. Ten primer pairs, mostly for trinucleotide repeats, produced polymorphic fragments in P. nigra. Some of them also showed amplification

Gene Structures, Classification, and Expression Models of the DREB Transcription Factor Subfamily in Populus trichocarpa

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Yunlin Chen

2013-01-01

Full Text Available We identified 75 dehydration-responsive element-binding (DREB protein genes in Populus trichocarpa. We analyzed gene structures, phylogenies, domain duplications, genome localizations, and expression profiles. The phylogenic construction suggests that the PtrDREB gene subfamily can be classified broadly into six subtypes (DREB A-1 to A-6 in Populus. The chromosomal localizations of the PtrDREB genes indicated 18 segmental duplication events involving 36 genes and six redundant PtrDREB genes were involved in tandem duplication events. There were fewer introns in the PtrDREB subfamily. The motif composition of PtrDREB was highly conserved in the same subtype. We investigated expression profiles of this gene subfamily from different tissues and/or developmental stages. Sixteen genes present in the digital expression analysis had high levels of transcript accumulation. The microarray results suggest that 18 genes were upregulated. We further examined the stress responsiveness of 15 genes by qRT-PCR. A digital northern analysis showed that the PtrDREB17, 18, and 32 genes were highly induced in leaves under cold stress, and the same expression trends were shown by qRT-PCR. Taken together, these observations may lay the foundation for future functional analyses to unravel the biological roles of Populus’ DREB genes.

Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation.

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Eva Müller

Full Text Available Intrauterine and postnatal longitudinal growth is controlled by a strong genetic component that regulates a complex network of endocrine factors integrating them with cellular proliferation, differentiation and apoptotic processes in target tissues, particularly the growth centers of the long bones. Here we report on a patient born small for gestational age (SGA with severe, proportionate postnatal growth retardation, discreet signs of skeletal dysplasia, microcephaly and moyamoya disease. Initial genetic evaluation revealed a novel heterozygous IGF1R p.Leu1361Arg mutation affecting a highly conserved residue with the insulin-like growth factor type 1 receptor suggestive for a disturbance within the somatotropic axis. However, because the mutation did not co-segregate with the phenotype and functional characterization did not reveal an obvious impairment of the ligand depending major IGF1R signaling capabilities a second-site mutation was assumed. Mutational screening of components of the somatotropic axis, constituents of the IGF signaling system and factors involved in cellular proliferation, which are described or suggested to provoke syndromic dwarfism phenotypes, was performed. Two compound heterozygous PCNT mutations (p.[Arg585X];[Glu1774X] were identified leading to the specification of the diagnosis to MOPD II. These investigations underline the need for careful assessment of all available information to derive a firm diagnosis from a sequence aberration.

Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation.

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Müller, Eva; Dunstheimer, Desiree; Klammt, Jürgen; Friebe, Daniela; Kiess, Wieland; Kratzsch, Jürgen; Kruis, Tassilo; Laue, Sandy; Pfäffle, Roland; Wallborn, Tillmann; Heidemann, Peter H

2012-01-01

Intrauterine and postnatal longitudinal growth is controlled by a strong genetic component that regulates a complex network of endocrine factors integrating them with cellular proliferation, differentiation and apoptotic processes in target tissues, particularly the growth centers of the long bones. Here we report on a patient born small for gestational age (SGA) with severe, proportionate postnatal growth retardation, discreet signs of skeletal dysplasia, microcephaly and moyamoya disease. Initial genetic evaluation revealed a novel heterozygous IGF1R p.Leu1361Arg mutation affecting a highly conserved residue with the insulin-like growth factor type 1 receptor suggestive for a disturbance within the somatotropic axis. However, because the mutation did not co-segregate with the phenotype and functional characterization did not reveal an obvious impairment of the ligand depending major IGF1R signaling capabilities a second-site mutation was assumed. Mutational screening of components of the somatotropic axis, constituents of the IGF signaling system and factors involved in cellular proliferation, which are described or suggested to provoke syndromic dwarfism phenotypes, was performed. Two compound heterozygous PCNT mutations (p.[Arg585X];[Glu1774X]) were identified leading to the specification of the diagnosis to MOPD II. These investigations underline the need for careful assessment of all available information to derive a firm diagnosis from a sequence aberration.

PINK1 heterozygous mutations induce subtle alterations in dopamine-dependent synaptic plasticity

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Madeo, G.; Schirinzi, T.; Martella, G.; Latagliata, E.C.; Puglisi, F.; Shen, J.; Valente, E.M.; Federici, M.; Mercuri, N.B.; Puglisi-Allegra, S.; Bonsi, P.; Pisani, A.

2014-01-01

Background Homozygous or compound heterozygous mutations in the PTEN-induced kinase 1 (PINK1) gene are causative of autosomal recessive, early onset PD. Single heterozygous mutations have been repeatedly detected in a subset of patients as well as in non-affected subjects, and their significance has long been debated. Several neurophysiological studies from non-manifesting PINK1 heterozygotes have shown the existence of neural plasticity abnormalities, indicating the presence of specific endophenotypic traits in the heterozygous state. Methods In the present study, we performed a functional analysis of corticostriatal synaptic plasticity in heterozygous PINK1 knock-out (PINK1+/−) mice by a multidisciplinary approach. Results We found that, despite a normal motor behavior, repetitive activation of cortical inputs to striatal neurons failed to induce long-term potentiation (LTP), whereas long-term depression (LTD) was normal. Although nigral dopaminergic neurons exhibited normal morphological and electrophysiological properties with normal responses to dopamine receptor activation, we measured a significantly lower dopamine release in the striatum of PINK1+/−, compared to control mice, suggesting that a decrease in stimulus-evoked dopamine overflow acts as a major determinant for the LTP deficit. Accordingly, pharmacological agents capable of increasing the availability of dopamine in the synaptic cleft restored a normal LTP in heterozygous mice. Moreover, MAO-B inhibitors rescued a physiological LTP and a normal dopamine release. Conclusions Our results provide novel evidence for striatal plasticity abnormalities even in the heterozygous disease state. These alterations might be considered an endophenotype to this monogenic form of PD, and a valid tool to characterize early disease stage and design possible disease-modifying therapies. PMID:24167038

Comparative physiology of allopatric Populus species: Geographic clines in photosynthesis, height growth and carbon isotope discrimination in common gardens

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Raju Yaranna Soolanayakanahally

2015-07-01

Full Text Available Populus species with wide geographic ranges display strong adaptation to local environments. We studied the clinal patterns in phenology and ecophysiology in allopatric Populus species adapted to similar environments on different continents under common garden settings. As a result of climatic adaptation, both P. tremula L. and Populus balsamifera L. display latitudinal clines in photosynthetic rates (A, whereby high-latitude trees of P. tremula had higher A compared to low-latitude trees and nearly so in P. balsamifera (p = 0.06. Stomatal conductance (gs and chlorophyll content index (CCI follow similar latitudinal trends. However, foliar nitrogen was positively correlated with latitude in P. balsamifera and negatively correlated in P. tremula. No significant trends in carbon isotope composition of the leaf tissue (δ13C were observed for both species; but, intrinsic water-use efficiency (WUEi was negatively correlated with the latitude of origin in P. balsamifera. In spite of intrinsically higher A, high-latitude trees in both common gardens accomplished less height gain as a result of early bud set. Thus, shoot biomass was determined by height elongation duration (HED, which was well approximated by the number of days available for free growth between bud flush and bud set. In doing so, we highlight the shortcoming of unreplicated outdoor common gardens for tree improvement and the crucial role of photoperiod in limiting height growth, further complicating interpretation of other secondary effects.

Biochemical basis of drought tolerance in hybrid Populus grown under field production conditions. CRADA final report

Energy Technology Data Exchange (ETDEWEB)

Tschaplinski, T.J.; Tuskan, G.A. [Oak Ridge National Lab., TN (United States); Wierman, C. [Boise Cascade Corp., Wallula, WA (United States)

1997-04-01

The purpose of this cooperative effort was to assess the use of osmotically active compounds as molecular selection criteria for drought tolerance in Populus in a large-scale field trial. It is known that some plant species, and individuals within a plant species, can tolerate increasing stress associated with reduced moisture availability by accumulating solutes. The biochemical matrix of such metabolites varies among species and among individuals. The ability of Populus clones to tolerate drought has equal value to other fiber producers, i.e., the wood products industry, where irrigation is used in combination with other cultural treatments to obtain high dry weight yields. The research initially involved an assessment of drought stress under field conditions and characterization of changes in osmotic constitution among the seven clones across the six moisture levels. The near-term goal was to provide a mechanistic basis for clonal differences in productivity under various irrigation treatments over time.

The Populus ARBORKNOX1 homeodomain transcription factor regulates woody growth through binding to evolutionarily conserved target genes of diverse function

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Lijun Liu; Matthew S. Zinkgraf; H. Earl Petzold; Eric P. Beers; Vladimir Filkov; Andrew Groover

2014-01-01

The class I KNOX homeodomain transcription factor ARBORKNOX1 (ARK1) is a key regulator of vascular cambium maintenance and cell differentiation in Populus. Currently, basic information is lacking concerning the distribution, functional characteristics, and evolution of ARK1 binding in the Populus genome.

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.

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Issa, Sarah; Bondurand, Nadege; Faubert, Emmanuelle; Poisson, Sylvain; Lecerf, Laure; Nitschke, Patrick; Deggouj, Naima; Loundon, Natalie; Jonard, Laurence; David, Albert; Sznajer, Yves; Blanchet, Patricia; Marlin, Sandrine; Pingault, Veronique

2017-05-01

Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss and pigmentation anomalies. The clinical definition of four WS types is based on additional features due to defects in structures mostly arising from the neural crest, with type I and type II being the most frequent. While type I is tightly associated to PAX3 mutations, WS type II (WS2) remains partly enigmatic with mutations in known genes (MITF, SOX10) accounting for only 30% of the cases. We performed exome sequencing in a WS2 index case and identified a heterozygous missense variation in EDNRB. Interestingly, homozygous (and very rare heterozygous) EDNRB mutations are already described in type IV WS (i.e., in association with Hirschsprung disease [HD]) and heterozygous mutations in isolated HD. Screening of a WS2 cohort led to the identification of an overall of six heterozygous EDNRB variations. Clinical phenotypes, pedigrees and molecular segregation investigations unraveled a dominant mode of inheritance with incomplete penetrance. In parallel, cellular and functional studies showed that each of the mutations impairs the subcellular localization of the receptor or induces a defective downstream signaling pathway. Based on our results, we now estimate EDNRB mutations to be responsible for 5%-6% of WS2. © 2017 Wiley Periodicals, Inc.

Genetic Modification of Lignin in Hybrid Poplar (Populus alba × Populus tremula) Does Not Substantially Alter Plant Defense or Arthropod Communities.

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Buhl, Christine; Meilan, Richard; Lindroth, Richard L

2017-05-01

Lignin impedes access to cellulose during biofuel production and pulping but trees can be genetically modified to improve processing efficiency. Modification of lignin may have nontarget effects on mechanical and chemical resistance and subsequent arthropod community responses with respect to pest susceptibility and arthropod biodiversity. We quantified foliar mechanical and chemical resistance traits in lignin-modified and wild-type (WT) poplar (Populus alba × Populus tremula) grown in a plantation and censused arthropods present on these trees to determine total abundance, as well as species richness, diversity and community composition. Our results indicate that mechanical resistance was not affected by lignin modification and only one genetic construct resulted in a (modest) change in chemical resistance. Arthropod abundance and community composition were consistent across modified and WT trees, but transgenics produced using one construct exhibited higher species richness and diversity relative to the WT. Our findings indicate that modification of lignin in poplar does not negatively affect herbivore resistance traits or arthropod community response, and may even result in a source of increased genetic diversity in trees and arthropod communities. © The Authors 2017. Published by Oxford University Press on behalf of Entomological Society of America.

Constitutively elevated salicylic acid levels alter photosynthesis and oxidative state but not growth in transgenic populus.

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Xue, Liang-Jiao; Guo, Wenbing; Yuan, Yinan; Anino, Edward O; Nyamdari, Batbayar; Wilson, Mark C; Frost, Christopher J; Chen, Han-Yi; Babst, Benjamin A; Harding, Scott A; Tsai, Chung-Jui

2013-07-01

Salicylic acid (SA) has long been implicated in plant responses to oxidative stress. SA overproduction in Arabidopsis thaliana leads to dwarfism, making in planta assessment of SA effects difficult in this model system. We report that transgenic Populus tremula × alba expressing a bacterial SA synthase hyperaccumulated SA and SA conjugates without negative growth consequences. In the absence of stress, endogenously elevated SA elicited widespread metabolic and transcriptional changes that resembled those of wild-type plants exposed to oxidative stress-promoting heat treatments. Potential signaling and oxidative stress markers azelaic and gluconic acids as well as antioxidant chlorogenic acids were strongly coregulated with SA, while soluble sugars and other phenylpropanoids were inversely correlated. Photosynthetic responses to heat were attenuated in SA-overproducing plants. Network analysis identified potential drivers of SA-mediated transcriptome rewiring, including receptor-like kinases and WRKY transcription factors. Orthologs of Arabidopsis SA signaling components NON-EXPRESSOR OF PATHOGENESIS-RELATED GENES1 and thioredoxins were not represented. However, all members of the expanded Populus nucleoredoxin-1 family exhibited increased expression and increased network connectivity in SA-overproducing Populus, suggesting a previously undescribed role in SA-mediated redox regulation. The SA response in Populus involved a reprogramming of carbon uptake and partitioning during stress that is compatible with constitutive chemical defense and sustained growth, contrasting with the SA response in Arabidopsis, which is transient and compromises growth if sustained.

Selecting and utilizing Populus and Salix for landfill covers: implications for leachate irrigation.

Science.gov (United States)

Zalesny, Ronald S; Bauer, Edmund O

2007-01-01

The success of using Populus and Salix for phytoremediation has prompted further use of leachate as a combination of irrigation and fertilization for the trees. A common protocol for such efforts has been to utilize a limited number of readily-available genotypes with decades of deployment in other applications, such as fiber or windbreaks. However, it may be possible to increase phytoremediation success with proper genotypic screening and selection, followed by the field establishment of clones that exhibited favorable potential for cleanup of specific contaminants. There is an overwhelming need for testing and subsequent deployment of diverse Populus and Salix genotypes, given current availability of clonal material and the inherent genetic variation among and within these genera. Therefore, we detail phyto-recurrent selection, a method that consists of revising and combining crop and tree improvement protocols to meet the objective of utilizing superior Populus and Salix clones for remediation applications. Although such information is lacking for environmental clean-up technologies, centuries of plant selection success in agronomy, horticulture, and forestry validate the need for similar approaches in phytoremediation. We bridge the gap between these disciplines by describing project development, clone selection, tree establishment, and evaluation of success metrics in the context of their importance to utilizing trees for phytoremediation.

A genomics investigation of partitioning into and among flavonoid-derived condensed tannins for carbon sequestration in Populus

Energy Technology Data Exchange (ETDEWEB)

Harding, Scott, A; Tsai, Chung-jui; Lindroth, Richard, L

2013-03-24

conserved. Overall phenylpropanoid composition exhibited changes due to large effects on phenolic glycosides containing a salicin moiety. There were no effects on lignin content. Efforts to publish this work continue, and depend on additional data which we are still collecting. This ongoing work is expected to strengthen our most provocative metabolic profiling data which suggests as yet unreported links controlling the balance between the two major leaf phenylpropanoid sinks, the CTs and the salicin-PGs. Objective 2: Ontogenic effects on leaf CT accrual and phenylpropanoid complexity (Objective 2) have been reported in the past and we contributed two manuscripts on how phenylpropanoid sinks in roots and stems could have an increasing effect on leaf CT as plants grow larger and plant proportions of stem, root and leaf change. Tsai C.-J., El Kayal W., Harding S.A. (2006) Populus, the new model system for investigating phenylpropanoid complexity. International Journal of Applied Science and Engineering 4: 221-233. We presented evidence that flavonoid precursors of CT rapidly decline in roots under conditions that favor CT accrual in leaves. Harding SA, Jarvie MM, Lindroth RL, Tsai C-J (2009) A comparative analysis of phenylpropanoid metabolism, N utilization and carbon partitioning in fast- and slow-growing Populus hybrid clones. Journal of Experimental Botany. 60:3443-3452. We presented evidence that nitrogen delivery to leaves as a fraction of nitrogen taken up by the roots is lower in high leaf CT genotypes. We presented a hypothesis from our data that N was sequestered in proportion to lignin content in stem tissues. Low leaf N content and high leaf CT in genotypes with high stem lignin was posited to be a systemic outcome of N demand in lignifiying stem tissues. Thereby, stem lignin and leaf CT accrual might be systemically linked, placing control of leaf phenylpropanoids under systemic rather than solely organ specific determinants. Analyses of total structural and non

Cadmium accumulation and growth responses of a poplar (Populus deltoids x Populus nigra) in cadmium contaminated purple soil and alluvial soil

Energy Technology Data Exchange (ETDEWEB)

Wu Fuzhong [Faculty of Forestry, Sichuan Agricultural University, 625014, Ya' an (China); Yang Wanqin, E-mail: scyangwq@163.com [Faculty of Forestry, Sichuan Agricultural University, 625014, Ya' an (China); Zhang Jian; Zhou Liqiang [Faculty of Forestry, Sichuan Agricultural University, 625014, Ya' an (China)

2010-05-15

To characterize the phytoextraction efficiency of a hybrid poplar (Populus deltoids x Populus nigra) in cadmium contaminated purple soil and alluvial soil, a pot experiment in field was carried out in Sichuan basin, western China. After one growing period, the poplar accumulated the highest of 541.98 {+-} 19.22 and 576.75 {+-} 40.55 {mu}g cadmium per plant with 110.77 {+-} 12.68 and 202.54 {+-} 19.12 g dry mass in these contaminated purple soil and alluvial soil, respectively. Higher phytoextraction efficiency with higher cadmium concentration in tissues was observed in poplar growing in purple soil than that in alluvial soil at relative lower soil cadmium concentration. The poplar growing in alluvial soil had relative higher tolerance ability with lower reduction rates of morphological and growth characters than that in purple soil, suggesting that the poplar growing in alluvial soil might display the higher phytoextraction ability when cadmium contamination level increased. Even so, the poplars exhibited obvious cadmium transport from root to shoot in both soils regardless of cadmium contamination levels. It implies that this examined poplar can extract more cadmium than some hyperaccumulators. The results indicated that metal phytoextraction using the poplar can be applied to clean up soils moderately contaminated by cadmium in these purple soil and alluvial soil.

Induced mutations in highly heterozygous vegetatively propagated grasses

International Nuclear Information System (INIS)

Powell, J.B.

1976-01-01

Experience with mutation induction of turf and forage grasses indicates that much progress can be achieved by this method. More than 300 mutations have been produced in our laboratory in the cultivars Tifgreen and Tifdwarf bermudagrass (Cynodon sp.). In the Tifway and Tifcote bermudagrasses we have demonstrated similar mutation responses. The first three clones are triploids and Tifcote is a probable tetraploid. No seeds are set on these clones. Two clones of bermudagrass, Coastal and Coastcross-1, occupy millions of hectares in the USA. Both are mutable and are known to be hybrids with 36 chromosomes. Biotypes of dallisgrass (Paspalum dilatatum Poir.) exist with 40 and 50 chromosomes and reproduce as sexual and obligate apomictic forms. Gamma-ray and thermal-neutron treatment of seed of these biotypes produced mutants that maintained the maternal characteristics in subsequent generations. Bahiagrass (Paspalum notatum Fluegge) also has sexual and apomictic biotypes. Some success was indicated for increased seed set by mutagen treatment. Kentucky bluegrass (Poa pratensis L.) is a facultative apomict with varying numbers of chromosomes in different cultivars. Gamma-ray mutagen treatment of rhizomes produced numerous mutations for plant type and disease reaction. Most mutations perpetuate themselves through the seed. The characteristic in common with all these grasses is their heterozygosity, which is maintained by the vegetative propagation or apomictic mode of reproduction. The experience in using ionizing radiation to induce heritable changes in these vegetatively propagated grasses is one of considerable success. Mutation rates in some of these irradiated grasses exceeded 65% and aberrant plants with characteristics previously never observed were found. Numerous hemizygous and heterozygous loci seem to be a sensitive target for mutagens. (author)

Water use sources of desert riparian Populus euphratica forests.

Science.gov (United States)

Si, Jianhua; Feng, Qi; Cao, Shengkui; Yu, Tengfei; Zhao, Chunyan

2014-09-01

Desert riparian forests are the main body of natural oases in the lower reaches of inland rivers; its growth and distribution are closely related to water use sources. However, how does the desert riparian forest obtains a stable water source and which water sources it uses to effectively avoid or overcome water stress to survive? This paper describes an analysis of the water sources, using the stable oxygen isotope technique and the linear mixed model of the isotopic values and of desert riparian Populus euphratica forests growing at sites with different groundwater depths and conditions. The results showed that the main water source of Populus euphratica changes from water in a single soil layer or groundwater to deep subsoil water and groundwater as the depth of groundwater increases. This appears to be an adaptive selection to arid and water-deficient conditions and is a primary reason for the long-term survival of P. euphratica in the desert riparian forest of an extremely arid region. Water contributions from the various soil layers and from groundwater differed and the desert riparian P. euphratica forests in different habitats had dissimilar water use strategies.

Eighteen microsatellite loci in Salix arbutifolia (Salicaceae) and cross-species amplification in Salix and Populus species.

Science.gov (United States)

Hoshikawa, Takeshi; Kikuchi, Satoshi; Nagamitsu, Teruyoshi; Tomaru, Nobuhiro

2009-07-01

Salix arbutifolia is a riparian dioecious tree species that is of conservation concern in Japan because of its highly restricted distribution. Eighteen polymorphic loci of dinucleotide microsatellites were isolated and characterized. Among these, estimates of the expected heterozygosity ranged from 0.350 to 0.879. Cross-species amplification was successful at 9-13 loci among six Salix species and at three loci in one Populus species. © 2009 Blackwell Publishing Ltd.

Genetic origin and composition of a natural hybrid poplar Populus???jrtyschensis from two distantly related species

OpenAIRE

Jiang, Dechun; Feng, Jianju; Dong, Miao; Wu, Guili; Mao, Kangshan; Liu, Jianquan

2016-01-01

Background The factors that contribute to and maintain hybrid zones between distinct species are highly variable, depending on hybrid origins, frequencies and fitness. In this study, we aimed to examine genetic origins, compositions and possible maintenance of Populus???jrtyschensis, an assumed natural hybrid between two distantly related species. This hybrid poplar occurs mainly on the floodplains along the river valleys between the overlapping distributions of the two putative parents. Resu...

Uptake of macro- and micro-nutrients into leaf, woody, and root tissue of Populus after irrigation with landfill leachate

Science.gov (United States)

Jill A. Zalesny; Ronald S., Jr. Zalesny; Adam H. Wiese; Bart T. Sexton; Richard B. Hall

2008-01-01

Information about macro- and micro-nutrient uptake and distribution into tissues of Populus irrigated with landfill leachate helps to maximize biomass production and understand impacts of leachate chemistry on tree health. We irrigated eight Populus clones (NC 13460, NCI4O18, NC14104, NC14106, DM115, DN5, NM2, NM6) with fertilized (N, P, K) well...

Trade-offs between xylem hydraulic properties, wood anatomy and yield in Populus.

Science.gov (United States)

Hajek, Peter; Leuschner, Christoph; Hertel, Dietrich; Delzon, Sylvain; Schuldt, Bernhard

2014-07-01

Trees face the dilemma that achieving high plant productivity is accompanied by a risk of drought-induced hydraulic failure due to a trade-off in the trees' vascular system between hydraulic efficiency and safety. By investigating the xylem anatomy of branches and coarse roots, and measuring branch axial hydraulic conductivity and vulnerability to cavitation in 4-year-old field-grown aspen plants of five demes (Populus tremula L. and Populus tremuloides Michx.) differing in growth rate, we tested the hypotheses that (i) demes differ in wood anatomical and hydraulic properties, (ii) hydraulic efficiency and safety are related to xylem anatomical traits, and (iii) aboveground productivity and hydraulic efficiency are negatively correlated to cavitation resistance. Significant deme differences existed in seven of the nine investigated branch-related anatomical and hydraulic traits but only in one of the four coarse-root-related anatomical traits; this likely is a consequence of high intra-plant variation in root morphology and the occurrence of a few 'high-conductivity roots'. Growth rate was positively related to branch hydraulic efficiency (xylem-specific conductivity) but not to cavitation resistance; this indicates that no marked trade-off exists between cavitation resistance and growth. Both branch hydraulic safety and hydraulic efficiency significantly depended on vessel size and were related to the genetic distance between the demes, while the xylem pressure causing 88% loss of hydraulic conductivity (P88 value) was more closely related to hydraulic efficiency than the commonly used P50 value. Deme-specific variation in the pit membrane structure may explain why vessel size was not directly linked to growth rate. We conclude that branch hydraulic efficiency is an important growth-influencing trait in aspen, while the assumed trade-off between productivity and hydraulic safety is weak. © The Author 2014. Published by Oxford University Press. All rights reserved

Compound heterozygous ASPM mutations in Pakistani MCPH families

DEFF Research Database (Denmark)

Muhammad, Farooq; Mahmood Baig, Shahid; Hansen, Lars

2009-01-01

Autosomal recessive primary microcephaly (MCPH) is characterized by reduced head circumference (50% of all reported families. In spite of the high frequency of MCPH in Pakistan only one case of compound heterozygosity for mutations in ASPM has been reported yet. In this large MCPH study we...... confirmed compound heterozygosity in two and homozygous mutations in 20 families, respectively, showing that up to 10% of families with MCPH caused by ASPM are compound heterozygous. In total we identified 16 different nonsense or frameshift mutations of which 12 were novel thereby increasing the number...... of mutations in ASPM significantly from 35 to 47. We found no correlation between the severity of the condition and the site of truncation. We suggest that the high frequency of compound heterozygosity observed in this study is taken into consideration as part of future genetic testing and counseling...

Genetic basis of aboveground productivity in two native Populus species and their hybrids.

Science.gov (United States)

Lojewski, Nathan R; Fischer, Dylan G; Bailey, Joseph K; Schweitzer, Jennifer A; Whitham, Thomas G; Hart, Stephen C

2009-09-01

Demonstration of genetic control over riparian tree productivity has major implications for responses of riparian systems to shifting environmental conditions and effects of genetics on ecosystems in general. We used field studies and common gardens, applying both molecular and quantitative techniques, to compare plot-level tree aboveground net primary productivity (ANPP(tree)) and individual tree growth rate constants in relation to plant genetic identity in two naturally occurring Populus tree species and their hybrids. In field comparisons of four cross types (Populus fremontii S. Wats., Populus angustifolia James, F(1) hybrids and backcross hybrids) across 11 natural stands, productivity was greatest for P. fremontii trees, followed by hybrids and lowest in P. angustifolia. A similar pattern was observed in four common gardens across a 290 m elevation and 100 km environmental gradient. Despite a doubling in productivity across the common gardens, the relative differences among the cross types remained constant. Using clonal replicates in a common garden, we found ANPP(tree) to be a heritable plant trait (i.e., broad-sense heritability), such that plant genetic factors explained between 38% and 82% of the variation in ANPP(tree). Furthermore, analysis of the genetic composition among individual tree genotypes using restriction fragment length polymorphism molecular markers showed that genetically similar trees also exhibited similar ANPP(tree). These findings indicate strong genetic contributions to natural variation in ANPP with important ecological implications.

Transcriptional and Hormonal Regulation of Gravitropism of Woody Stems in Populus

Science.gov (United States)

Suzanne Gerttula; Matthew S. Zinkgraf; Gloria K. Muday; Daniel R. Lewis; Farid M. Ibatullin; Harry Brumer; Foster Hart; Shawn D. Mansfield; Vladimir Filkov; Andrew Groover

2015-01-01

Angiosperm trees reorient their woody stems by asymmetrically producing a specialized xylem tissue, tension wood, which exerts a strong contractile force resulting in negative gravitropism of the stem. Here, we show, in Populus trees, that initial gravity perception and response occurs in specialized cells through sedimentation of starch-filled...

Variable Nitrogen Fixation in Wild Populus.

Directory of Open Access Journals (Sweden)

Sharon L Doty

Full Text Available The microbiome of plants is diverse, and like that of animals, is important for overall health and nutrient acquisition. In legumes and actinorhizal plants, a portion of essential nitrogen (N is obtained through symbiosis with nodule-inhabiting, N2-fixing microorganisms. However, a variety of non-nodulating plant species can also thrive in natural, low-N settings. Some of these species may rely on endophytes, microorganisms that live within plants, to fix N2 gas into usable forms. Here we report the first direct evidence of N2 fixation in the early successional wild tree, Populus trichocarpa, a non-leguminous tree, from its native riparian habitat. In order to measure N2 fixation, surface-sterilized cuttings of wild poplar were assayed using both 15N2 incorporation and the commonly used acetylene reduction assay. The 15N label was incorporated at high levels in a subset of cuttings, suggesting a high level of N-fixation. Similarly, acetylene was reduced to ethylene in some samples. The microbiota of the cuttings was highly variable, both in numbers of cultured bacteria and in genetic diversity. Our results indicated that associative N2-fixation occurred within wild poplar and that a non-uniformity in the distribution of endophytic bacteria may explain the variability in N-fixation activity. These results point to the need for molecular studies to decipher the required microbial consortia and conditions for effective endophytic N2-fixation in trees.

Chloride and sodium uptake potential over an entire rotation of Populus irrigated with landfill leachate.

Science.gov (United States)

Zalesny, Jill A; Zalesny, Ronald S

2009-07-01

There is a need for information about the response of Populus genotypes to repeated application of high-salinity water and nutrient sources throughout an entire rotation. We have combined establishment biomass and uptake data with mid- and full-rotation growth data to project potential chloride (Cl-) and sodium (Na+) uptake for 2- to 11-year-old Populus in the north central United States. Our objectives were to identify potential levels of uptake as the trees developed and stages of plantation development that are conducive to variable application rates of high-salinity irrigation. The projected cumulative uptake of Cl- and Na+ during mid-rotation plantation development was stable 2 to 3 years after planting but increased steadily from year 3 to 6. Year six cumulative uptake ranged from 22 to 175 kg Cl- ha(-1) and 8 to 74 kg Na+ ha(-1), while annual uptake ranged from 8 to 54 kg Cl- ha(-1) yr(-1) and 3 to 23 kg Na+ ha(-1) yr(-1). Full-rotation uptake was greatest from 4 to 9 years (Cl-) and 4 to 8 years (Na+), with maximum levels of Cl- (32 kg ha(-1) yr(-1)) and Na+ (13 kg ha(-1) yr(-1)) occurring in year six. The relative uptake potential of Cl- and Na+ at peak accumulation (year six) was 2.7 times greater than at the end of the rotation.

Cadmium accumulation and growth responses of a poplar (Populus deltoids x Populus nigra) in cadmium contaminated purple soil and alluvial soil

International Nuclear Information System (INIS)

Wu Fuzhong; Yang Wanqin; Zhang Jian; Zhou Liqiang

2010-01-01

To characterize the phytoextraction efficiency of a hybrid poplar (Populus deltoids x Populus nigra) in cadmium contaminated purple soil and alluvial soil, a pot experiment in field was carried out in Sichuan basin, western China. After one growing period, the poplar accumulated the highest of 541.98 ± 19.22 and 576.75 ± 40.55 μg cadmium per plant with 110.77 ± 12.68 and 202.54 ± 19.12 g dry mass in these contaminated purple soil and alluvial soil, respectively. Higher phytoextraction efficiency with higher cadmium concentration in tissues was observed in poplar growing in purple soil than that in alluvial soil at relative lower soil cadmium concentration. The poplar growing in alluvial soil had relative higher tolerance ability with lower reduction rates of morphological and growth characters than that in purple soil, suggesting that the poplar growing in alluvial soil might display the higher phytoextraction ability when cadmium contamination level increased. Even so, the poplars exhibited obvious cadmium transport from root to shoot in both soils regardless of cadmium contamination levels. It implies that this examined poplar can extract more cadmium than some hyperaccumulators. The results indicated that metal phytoextraction using the poplar can be applied to clean up soils moderately contaminated by cadmium in these purple soil and alluvial soil.

Gibberellins in shoots and developing capsules of Populus species.

Science.gov (United States)

Pearce, David W; Hutt, Oliver E; Rood, Stewart B; Mander, Lewis N

2002-03-01

Extracts of stems of growing shoots of Populus deltoides and P. trichocarpa, and developing capsules of P. deltoides were analysed for gibberellins (GAs) by gas chromatography-mass spectrometry. The following known GAs were identified by comparison of their Kovats retention indices (KRIs) and mass spectra with those of standards: GA1, GA8, GA9, GA19, GA20, 16 beta,17-dihydro-17-hydroxy GA20, GA23, GA28, GA29, GA34, GA44, and GA97. Several of these have not been previously reported from Populus. In addition, two new GAs were identified as 12 beta-hydroxy GA53 (GA127) and 16 beta,17-dihydro-17-hydroxy GA53 and their structures were confirmed by partial synthesis. Evidence was found of 16,17-dihydro-16,17-dihydroxy GA9, 16,17-dihydro-16,17-dihydroxy GA12, 12-hydroxy GA14, and GA34-catabolite by comparison of mass spectra and KRIs with published data. Several putative GAs (hydroxy- and dihydroxy-GA12-like) were also found. The catabolites of active GAs or of key precursors, hydroxylated at C-2 in stems and either C-2, C-12, C-17, or C-16,17 in capsules, were the major proportion of the GAs.

Spatial Pattern of Populus euphratica Forest Change as Affected by Water Conveyance in the Lower Tarim River

Directory of Open Access Journals (Sweden)

Shuhong Peng

2014-01-01

Full Text Available To restore declining species, including Populus euphratica and other riparian communities, in the river ecosystem of the lower Tarim River, the ecological water conveyance project (EWCP, as a part of an integrated water resource management plan, was implemented in 2000. The EWCP aims to schedule and manage the water resources in the upper reaches and transfer water to the lower reaches by a series of intermittent water deliveries. The delivered water flows along a modified river channel and nourishes riparian communities by river overflow flooding. Since it began, it has caused a fierce debate over the response of riparian vegetation to the water conveyance scheme. This study focuses on the lower Tarim River, where Populus euphratica forests have undergone watering, due to the EWCP. Twelve Landsat sensor images and one IKONOS satellite imagery acquired between 1999 and 2009 were used to monitor the change in Populus euphratica forests. Bi-temporal change detection and temporal trajectory analysis were employed to represent the spatial pattern of the forest change. Field investigations were used to analyze the driving forces behind forest change from the perspectives of anthropogenic activities and natural forces. The results showed that Populus euphratica forest have been declining in area, which implies that ecological risks have been increased during the watering process. However, forests areas have increased in the regions where the water supply is abundant, and vice versa.

Litter Quality of Populus Species as Affected by Free-Air CO2

NARCIS (Netherlands)

Vermue, E.; Buurman, P.; Hoosbeek, M.R.

2009-01-01

The effect of elevated CO2 and nitrogen fertilization on the molecular chemistry of litter of three Populus species and associated soil organic matter (SOM) was investigated by pyrolysis-gas chromatography/mass spectrometry. The results are based on 147 quantified organic compounds in 24 litter

Light regimes in Populus plantations using the Voxel-based Light Interception Model

NARCIS (Netherlands)

Van der Zande, D.; Dieussart, K.; Stuckens, J.; Verstraeten, W.W.; Coppin, P.

2011-01-01

Three-dimensional light interception by three uniform Populus canopies was studied using the Voxel-based Light Interception Model (VLIM) in combination with ground-based Light Detection and Ranging (LiDAR) measurements. As the VLIM was developed and validated in a virtual environment to ensure

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

Science.gov (United States)

Kannengiesser, Caroline; Borie, Raphael; Ménard, Christelle; Réocreux, Marion; Nitschké, Patrick; Gazal, Steven; Mal, Hervé; Taillé, Camille; Cadranel, Jacques; Nunes, Hilario; Valeyre, Dominique; Cordier, Jean François; Callebaut, Isabelle; Boileau, Catherine; Cottin, Vincent; Grandchamp, Bernard; Revy, Patrick; Crestani, Bruno

2015-08-01

Pulmonary fibrosis is a fatal disease with progressive loss of respiratory function. Defective telomere maintenance leading to telomere shortening is a cause of pulmonary fibrosis, as mutations in the telomerase component genes TERT (reverse transcriptase) and TERC (RNA component) are found in 15% of familial pulmonary fibrosis (FPF) cases. However, so far, about 85% of FPF remain genetically uncharacterised.Here, in order to identify new genetic causes of FPF, we performed whole-exome sequencing, with a candidate-gene approach, of 47 affected subjects from 35 families with FPF without TERT and TERC mutations.We identified heterozygous mutations in regulator of telomere elongation helicase 1 (RTEL1) in four families. RTEL1 is a DNA helicase with roles in DNA replication, genome stability, DNA repair and telomere maintenance. The heterozygous RTEL1 mutations segregated as an autosomal dominant trait in FPF, and were predicted by structural analyses to severely affect the function and/or stability of RTEL1. In agreement with this, RTEL1-mutated patients exhibited short telomeres in comparison with age-matched controls.Our results provide evidence that heterozygous RTEL1 mutations are responsible for FPF and, thereby, extend the clinical spectrum of RTEL1 deficiency. Thus, RTEL1 enlarges the number of telomere-associated genes implicated in FPF. Copyright ©ERS 2015.

Efficient introduction of specific homozygous and heterozygous mutations using CRISPR/Cas9.

Science.gov (United States)

Paquet, Dominik; Kwart, Dylan; Chen, Antonia; Sproul, Andrew; Jacob, Samson; Teo, Shaun; Olsen, Kimberly Moore; Gregg, Andrew; Noggle, Scott; Tessier-Lavigne, Marc

2016-05-05

The bacterial CRISPR/Cas9 system allows sequence-specific gene editing in many organisms and holds promise as a tool to generate models of human diseases, for example, in human pluripotent stem cells. CRISPR/Cas9 introduces targeted double-stranded breaks (DSBs) with high efficiency, which are typically repaired by non-homologous end-joining (NHEJ) resulting in nonspecific insertions, deletions or other mutations (indels). DSBs may also be repaired by homology-directed repair (HDR) using a DNA repair template, such as an introduced single-stranded oligo DNA nucleotide (ssODN), allowing knock-in of specific mutations. Although CRISPR/Cas9 is used extensively to engineer gene knockouts through NHEJ, editing by HDR remains inefficient and can be corrupted by additional indels, preventing its widespread use for modelling genetic disorders through introducing disease-associated mutations. Furthermore, targeted mutational knock-in at single alleles to model diseases caused by heterozygous mutations has not been reported. Here we describe a CRISPR/Cas9-based genome-editing framework that allows selective introduction of mono- and bi-allelic sequence changes with high efficiency and accuracy. We show that HDR accuracy is increased dramatically by incorporating silent CRISPR/Cas-blocking mutations along with pathogenic mutations, and establish a method termed 'CORRECT' for scarless genome editing. By characterizing and exploiting a stereotyped inverse relationship between a mutation's incorporation rate and its distance to the DSB, we achieve predictable control of zygosity. Homozygous introduction requires a guide RNA targeting close to the intended mutation, whereas heterozygous introduction can be accomplished by distance-dependent suboptimal mutation incorporation or by use of mixed repair templates. Using this approach, we generated human induced pluripotent stem cells with heterozygous and homozygous dominant early onset Alzheimer's disease-causing mutations in

Molecular genetic analysis of black poplar (Populus nigra L.) along Dutch rivers

NARCIS (Netherlands)

Arens, P.; Coops, H.; Jansen, J.; Vosman, B.

1998-01-01

The genetic structure of remaining black poplar (Populus nigra) trees on the banks of the Dutch Rhine branches was investigated using the AFLP technique. In total, 143 trees, including one P. deltoides and some P. x euramericana, were analysed using six AFLP primer combinations which generated 319

Filaggrin compound heterozygous patients carry mutations in trans position

DEFF Research Database (Denmark)

Carlsen, Berit C; Meldgaard, Michael; Johansen, Jeanne D

2013-01-01

by means of allele-specific PCR amplification and analysis of PCR products by agarose gel electrophoresis. All R501X/2282del4 compound heterozygous samples collected over a 4-year period of routine FLG mutation testing were investigated. In total, 37 samples were tested. All thirty-seven R501X/2282del4......More than 40 null mutations in the filaggrin (FLG) gene are described. It is therefore possible to find two different null mutations in one individual (compound heterozygosity). It has been generally perceived that homozygous and compound heterozygous individuals were genotypically comparable......; however, this has not been scientifically investigated. Two different FLG null mutations in the same individual may be in trans position, meaning that each mutation locates to a different allele functionally equivalent to homozygosity, or may be in cis position, meaning that both mutations locate...

Mixed Sequence Reader: A Program for Analyzing DNA Sequences with Heterozygous Base Calling

Science.gov (United States)

Chang, Chun-Tien; Tsai, Chi-Neu; Tang, Chuan Yi; Chen, Chun-Houh; Lian, Jang-Hau; Hu, Chi-Yu; Tsai, Chia-Lung; Chao, Angel; Lai, Chyong-Huey; Wang, Tzu-Hao; Lee, Yun-Shien

2012-01-01

The direct sequencing of PCR products generates heterozygous base-calling fluorescence chromatograms that are useful for identifying single-nucleotide polymorphisms (SNPs), insertion-deletions (indels), short tandem repeats (STRs), and paralogous genes. Indels and STRs can be easily detected using the currently available Indelligent or ShiftDetector programs, which do not search reference sequences. However, the detection of other genomic variants remains a challenge due to the lack of appropriate tools for heterozygous base-calling fluorescence chromatogram data analysis. In this study, we developed a free web-based program, Mixed Sequence Reader (MSR), which can directly analyze heterozygous base-calling fluorescence chromatogram data in .abi file format using comparisons with reference sequences. The heterozygous sequences are identified as two distinct sequences and aligned with reference sequences. Our results showed that MSR may be used to (i) physically locate indel and STR sequences and determine STR copy number by searching NCBI reference sequences; (ii) predict combinations of microsatellite patterns using the Federal Bureau of Investigation Combined DNA Index System (CODIS); (iii) determine human papilloma virus (HPV) genotypes by searching current viral databases in cases of double infections; (iv) estimate the copy number of paralogous genes, such as β-defensin 4 (DEFB4) and its paralog HSPDP3. PMID:22778697

A role for stomata in regulating water use efficiency in Populus x ...

African Journals Online (AJOL)

A role for stomata in regulating water use efficiency in Populus x euramericana and characterization of a related gene, PdERECTA. P Guo, X Xia, WL Yin. Abstract. The physiological mechanism of water use efficiency (WUE) remains elucidated, especially in poplar. We studied WUEi (instantaneous leaf transpiration ...

[Seasonal variation of Tamarix ramosissima and Populus euphratica water potentials in southern fringe of Taklamakan Desert].

Science.gov (United States)

Zeng, Fanjiang; Zhang, Ximing; Li, Xiangyi; Foetzki, Andrea; Runge, Michael

2005-08-01

The measurement of the seasonal and diurnal variations of Tamarix ramosissima and Populus euphratica water potentials in the southern fringe of Taklamakan Desert indicated that there was no apparent water stress for the two species during their growth period, with little change of predawn water potential and some extent decrease of midday water potential. Irrigation once or thinning had no significant effects on the water status of the plants, while groundwater appeared to be a prerequisite for the survival and growth of these species. It is very important to ensure a stable groundwater table for the restoration of Tamarix ramosissima and Populus euphratica in this area.

Elevated atmospheric CO2 concentration leads to increased whole-plant isoprene emission in hybrid aspen (Populus tremula × Populus tremuloides).

Science.gov (United States)

Sun, Zhihong; Niinemets, Ülo; Hüve, Katja; Rasulov, Bahtijor; Noe, Steffen M

2013-05-01

Effects of elevated atmospheric [CO2] on plant isoprene emissions are controversial. Relying on leaf-scale measurements, most models simulating isoprene emissions in future higher [CO2] atmospheres suggest reduced emission fluxes. However, combined effects of elevated [CO2] on leaf area growth, net assimilation and isoprene emission rates have rarely been studied on the canopy scale, but stimulation of leaf area growth may largely compensate for possible [CO2] inhibition reported at the leaf scale. This study tests the hypothesis that stimulated leaf area growth leads to increased canopy isoprene emission rates. We studied the dynamics of canopy growth, and net assimilation and isoprene emission rates in hybrid aspen (Populus tremula × Populus tremuloides) grown under 380 and 780 μmol mol(-1) [CO2]. A theoretical framework based on the Chapman-Richards function to model canopy growth and numerically compare the growth dynamics among ambient and elevated atmospheric [CO2]-grown plants was developed. Plants grown under elevated [CO2] had higher C : N ratio, and greater total leaf area, and canopy net assimilation and isoprene emission rates. During ontogeny, these key canopy characteristics developed faster and stabilized earlier under elevated [CO2]. However, on a leaf area basis, foliage physiological traits remained in a transient state over the whole experiment. These results demonstrate that canopy-scale dynamics importantly complements the leaf-scale processes, and that isoprene emissions may actually increase under higher [CO2] as a result of enhanced leaf area production. © 2013 The Authors. New Phytologist © 2013 New Phytologist Trust.

Genome-wide Identification of WRKY Genes in the Desert Poplar Populus euphratica and Adaptive Evolution of the Genes in Response to Salt Stress.

Science.gov (United States)

Ma, Jianchao; Lu, Jing; Xu, Jianmei; Duan, Bingbing; He, Xiaodong; Liu, Jianquan

2015-01-01

WRKY transcription factors play important roles in plant development and responses to various stresses in plants. However, little is known about the evolution of the WRKY genes in the desert poplar species Populus euphratica, which is highly tolerant of salt stress. In this study, we identified 107 PeWRKY genes from the P. euphratica genome and examined their evolutionary relationships with the WRKY genes of the salt-sensitive congener Populus trichocarpa. Ten PeWRKY genes are specific to P. euphratica, and five of these showed altered expression under salt stress. Furthermore, we found that two pairs of orthologs between the two species showed evidence of positive evolution, with dN/dS ratios>1 (nonsynonymous/synonymous substitutions), and both of them altered their expression in response to salinity stress. These findings suggested that both the development of new genes and positive evolution in some orthologs of the WRKY gene family may have played an important role in the acquisition of high salt tolerance by P. euphratica.

Constitutively Elevated Salicylic Acid Levels Alter Photosynthesis and Oxidative State but Not Growth in Transgenic Populus[C][W

Science.gov (United States)

Xue, Liang-Jiao; Guo, Wenbing; Yuan, Yinan; Anino, Edward O.; Nyamdari, Batbayar; Wilson, Mark C.; Frost, Christopher J.; Chen, Han-Yi; Babst, Benjamin A.; Harding, Scott A.; Tsai, Chung-Jui

2013-01-01

Salicylic acid (SA) has long been implicated in plant responses to oxidative stress. SA overproduction in Arabidopsis thaliana leads to dwarfism, making in planta assessment of SA effects difficult in this model system. We report that transgenic Populus tremula × alba expressing a bacterial SA synthase hyperaccumulated SA and SA conjugates without negative growth consequences. In the absence of stress, endogenously elevated SA elicited widespread metabolic and transcriptional changes that resembled those of wild-type plants exposed to oxidative stress-promoting heat treatments. Potential signaling and oxidative stress markers azelaic and gluconic acids as well as antioxidant chlorogenic acids were strongly coregulated with SA, while soluble sugars and other phenylpropanoids were inversely correlated. Photosynthetic responses to heat were attenuated in SA-overproducing plants. Network analysis identified potential drivers of SA-mediated transcriptome rewiring, including receptor-like kinases and WRKY transcription factors. Orthologs of Arabidopsis SA signaling components NON-EXPRESSOR OF PATHOGENESIS-RELATED GENES1 and thioredoxins were not represented. However, all members of the expanded Populus nucleoredoxin-1 family exhibited increased expression and increased network connectivity in SA-overproducing Populus, suggesting a previously undescribed role in SA-mediated redox regulation. The SA response in Populus involved a reprogramming of carbon uptake and partitioning during stress that is compatible with constitutive chemical defense and sustained growth, contrasting with the SA response in Arabidopsis, which is transient and compromises growth if sustained. PMID:23903318

A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.

Science.gov (United States)

Macchiaroli, Annamaria; Kelberman, Daniel; Auriemma, Renata Simona; Drury, Suzanne; Islam, Lily; Giangiobbe, Sara; Ironi, Gabriele; Lench, Nicholas; Sowden, Jane C; Colao, Annamaria; Pivonello, Rosario; Cavallo, Luciano; Gasperi, Maurizio; Faienza, Maria Felicia

2014-01-25

Heterozygous de novo mutations in SOX2 have been reported in approximately 10-20% of patients with unilateral or bilateral anophthalmia or microphthalmia. An additional phenotype of hypopituitarism, with anterior pituitary hypoplasia and hypogonadotropic hypogonadism, has been reported in patients carrying SOX2 alterations. We report a novel heterozygous mutation in the SOX2 gene in a male affected with congenital bilateral anophthalmia, hypogonadotrophic hypogonadism and growth hormone deficiency. The mutation we describe is a cytosine deletion in position 905 (c905delC) which causes frameshift and an aberrant C-terminal domain. Our report highlights the fact that subjects affected with eye anomalies and harboring SOX2 mutations are at high risk for gonadotropin deficiency, which has important implications for their clinical management. Copyright © 2013 Elsevier B.V. All rights reserved.

Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder

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Claudia Fuchs

2018-01-01

Full Text Available CDKL5 disorder is a severe neurodevelopmental disorder caused by mutations in the X-linked CDKL5 (cyclin-dependent kinase-like five gene. CDKL5 disorder primarily affects girls and is characterized by early-onset epileptic seizures, gross motor impairment, intellectual disability, and autistic features. Although all CDKL5 female patients are heterozygous, the most valid disease-related model, the heterozygous female Cdkl5 knockout (Cdkl5 +/− mouse, has been little characterized. The lack of detailed behavioral profiling of this model remains a crucial gap that must be addressed in order to advance preclinical studies. Here, we provide a behavioral and molecular characterization of heterozygous Cdkl5 +/− mice. We found that Cdkl5 +/− mice reliably recapitulate several aspects of CDKL5 disorder, including autistic-like behaviors, defects in motor coordination and memory performance, and breathing abnormalities. These defects are associated with neuroanatomical alterations, such as reduced dendritic arborization and spine density of hippocampal neurons. Interestingly, Cdkl5 +/− mice show age-related alterations in protein kinase B (AKT and extracellular signal-regulated kinase (ERK signaling, two crucial signaling pathways involved in many neurodevelopmental processes. In conclusion, our study provides a comprehensive overview of neurobehavioral phenotypes of heterozygous female Cdkl5 +/− mice and demonstrates that the heterozygous female might be a valuable animal model in preclinical studies on CDKL5 disorder.

Twenty-one genome sequences from Pseudomonas species and 19 genome sequences from diverse bacteria isolated from the rhizosphere and endosphere of Populus deltoides.

Science.gov (United States)

Brown, Steven D; Utturkar, Sagar M; Klingeman, Dawn M; Johnson, Courtney M; Martin, Stanton L; Land, Miriam L; Lu, Tse-Yuan S; Schadt, Christopher W; Doktycz, Mitchel J; Pelletier, Dale A

2012-11-01

To aid in the investigation of the Populus deltoides microbiome, we generated draft genome sequences for 21 Pseudomonas strains and 19 other diverse bacteria isolated from Populus deltoides roots. Genome sequences for isolates similar to Acidovorax, Bradyrhizobium, Brevibacillus, Caulobacter, Chryseobacterium, Flavobacterium, Herbaspirillum, Novosphingobium, Pantoea, Phyllobacterium, Polaromonas, Rhizobium, Sphingobium, and Variovorax were generated.

Risk of asthma in heterozygous carriers for cystic fibrosis

DEFF Research Database (Denmark)

Nielsen, Anne Orholm; Qayum, Sadaf; Bouchelouche, Pierre Nourdine

2016-01-01

Background Patients with cystic fibrosis (CF) have a higher prevalence of asthma than the background population, however, it is unclear whether heterozygous CF carriers are susceptible to asthma. Given this, a meta-analysis is necessary to determine the veracity of the association of CF...

Using low energy x-ray radiography to evaluate root initiation and growth of Populus

Science.gov (United States)

Ronald S., Jr. Zalesny; A. L. Friend; B. Kodrzycki; D.W. McDonald; R. Michaels; A.H. Wiese; J.W. Powers

2007-01-01

Populus roots have been studied less than aboveground tissues. However, there is an overwhelming need to evaluate root initiation and growth in order to understand the genetics and physiology of rooting, along with genotype x environment interactions.

Twenty-One Genome Sequences from Pseudomonas Species and 19 Genome Sequences from Diverse Bacteria Isolated from the Rhizosphere and Endosphere of Populus deltoides

Energy Technology Data Exchange (ETDEWEB)

Brown, Steven D [ORNL; Utturkar, Sagar M [ORNL; Klingeman, Dawn Marie [ORNL; Johnson, Courtney M [ORNL; Martin, Stanton [ORNL; Land, Miriam L [ORNL; Lu, Tse-Yuan [ORNL; Schadt, Christopher Warren [ORNL; Doktycz, Mitchel John [ORNL; Pelletier, Dale A [ORNL

2012-01-01

To aid in the investigation of the Populus deltoides microbiome we generated draft genome sequences for twenty one Pseudomonas and twenty one other diverse bacteria isolated from Populus deltoides roots. Genome sequences for isolates similar to Acidovorax, Bradyrhizobium, Brevibacillus, Burkholderia, Caulobacter, Chryseobacterium, Flavobacterium, Herbaspirillum, Novosphingobium, Pantoea, Phyllobacterium, Polaromonas, Rhizobium, Sphingobium and Variovorax were generated.

Premature cardiovascular disease in young women with heterozygous familial hypercholesterolemia

NARCIS (Netherlands)

van der Graaf, Anouk; Hutten, Barbara A.; Kastelein, John J. P.; Vissers, Maud N.

2006-01-01

Heterozygous familial hypercholesterolemia is associated with elevated low-density lipoprotein cholesterol levels and the development of premature cardiovascular disease. Despite this general statement, data regarding the incidence of cardiovascular disease in young women with familial

Genome-wide analysis and heavy metal-induced expression profiling of the HMA gene family in Populus trichocarpa

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Dandan eLi

2015-12-01

Full Text Available The heavy metal ATPase (HMA family plays an important role in transition metal transport in plants. However, this gene family has not been extensively studied in Populus trichocarpa. We identified 17 HMA genes in P. trichocarpa (PtHMAs, of which PtHMA1–PtHMA4 belonged to the zinc (Zn/cobalt (Co/cadmium (Cd/lead (Pb subgroup, and PtHMA5–PtHMA8 were members of the copper (Cu/silver (Ag subgroup. Most of the genes were localized to chromosomes I and III. Gene structure, gene chromosomal location, and synteny analyses of PtHMAs indicated that tandem and segmental duplications likely contributed to the expansion and evolution of the PtHMAs. Most of the HMA genes contained abiotic stress-related cis-elements. Tissue-specific expression of PtHMA genes showed that PtHMA1 and PtHMA4 had relatively high expression levels in the leaves, whereas Cu/Ag subgroup (PtHMA5.1- PtHMA8 genes were upregulated in the roots. High concentrations of Cu, Ag, Zn, Cd, Co, Pb and Mn differentially regulated the expression of PtHMAs in various tissues. The preliminary results of the present study generated basic information on the HMA family of Populus that may serve as foundation for future functional studies.

Heterozygous defects in PAX6 gene and congenital hypopituitarism.

Science.gov (United States)

Takagi, Masaki; Nagasaki, Keisuke; Fujiwara, Ikuma; Ishii, Tomohiro; Amano, Naoko; Asakura, Yumi; Muroya, Koji; Hasegawa, Yukihiro; Adachi, Masanori; Hasegawa, Tomonobu

2015-01-01

The prevalence of congenital hypopituitarism (CH) attributable to known transcription factor mutations appears to be rare and other causative genes for CH remain to be identified. Due to the sporadic occurrence of CH, de novo chromosomal rearrangements could be one of the molecular mechanisms participating in its etiology, especially in syndromic cases. To identify the role of copy number variations (CNVs) in the etiology of CH and to identify novel genes implicated in CH. We enrolled 88 (syndromic: 30; non-syndromic: 58) Japanese CH patients. We performed an array comparative genomic hybridization screening in the 30 syndromic CH patients. For all the 88 patients, we analyzed PAX6 by PCR-based sequencing. We identified one heterozygous 310-kb deletion of the PAX6 enhancer region in one patient showing isolated GH deficiency (IGHD), cleft palate, and optic disc cupping. We also identified one heterozygous 6.5-Mb deletion encompassing OTX2 in a patient with bilateral anophthalmia and multiple pituitary hormone deficiency. We identified a novel PAX6 mutation, namely p.N116S in one non-syndromic CH patient showing IGHD. The p.N116S PAX6 was associated with an impairment of the transactivation capacities of the PAX6-binding elements. This study showed that heterozygous PAX6 mutations are associated with CH patients. PAX6 mutations may be associated with diverse clinical features ranging from severely impaired ocular and pituitary development to apparently normal phenotype. Overall, this study identified causative CNVs with a possible role in the etiology of CH in <10% of syndromic CH patients. © 2015 European Society of Endocrinology.

Arterial intima-media thickness in children heterozygous for familial hypercholesterolaemia

NARCIS (Netherlands)

Wiegman, Albert; de Groot, Eric; Hutten, Barbara A.; Rodenburg, Jessica; Gort, Johan; Bakker, Henk D.; Sijbrands, Eric J. G.; Kastelein, John J. P.

2004-01-01

Patients with familial hypercholesterolaemia have severe coronary-artery disease early in adult life. Whether lipid-lowering treatment should be started in childhood remains to be established. We therefore assessed 201 children heterozygous for familial hypercholesterolaemia and 80 unaffected

Bud removal affects shoot, root, and callus development of hardwood Populus cuttings

Science.gov (United States)

A.H. Wiese; J.A. Zalesny; D.M. Donner; Ronald S., Jr. Zalesny

2006-01-01

The inadvertent removal and/or damage of buds during processing and planting of hardwood poplar (Populus spp.) cuttings are a concern because of their potential impact on shoot and root development during establishment. The objective of the current study was to test for differences in shoot dry mass, root dry mass, number of roots, length of the...

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

NARCIS (Netherlands)

Van Houdt, Jeroen K. J.; Nowakowska, Beata Anna; Sousa, Sergio B.; van Schaik, Barbera D. C.; Seuntjens, Eve; Avonce, Nelson; Sifrim, Alejandro; Abdul-Rahman, Omar A.; van den Boogaard, Marie-Jose H.; Bottani, Armand; Castori, Marco; Cormier-Daire, Valerie; Deardorff, Matthew A.; Filges, Isabel; Fryer, Alan; Fryns, Jean-Pierre; Gana, Simone; Garavelli, Livia; Gillessen-Kaesbach, Gabriele; Hall, Bryan D.; Horn, Denise; Huylebroeck, Danny; Klapecki, Jakub; Krajewska-Walasek, Malgorzata; Kuechler, Alma; Lines, Matthew A.; Maas, Saskia; MacDermot, Kay D.; McKee, Shane; Magee, Alex; de Man, Stella A.; Moreau, Yves; Morice-Picard, Fanny; Obersztyn, Ewa; Pilch, Jacek; Rosser, Elizabeth; Shannon, Nora; Stolte-Dijkstra, Irene; Van Dijck, Patrick; Vilain, Catheline; Vogels, Annick; Wakeling, Emma; Wieczorek, Dagmar; Wilson, Louise; Zuffardi, Orsetta; van Kampen, Antoine H. C.; Devriendt, Koenraad; Hennekam, Raoul; Vermeesch, Joris Robert

Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial morphology, distal-limb anomalies and intellectual disability. We sequenced the exomes of ten individuals with NBS and identified heterozygous variants in SMARCA2 in eight of them. Extended molecular screening

Epigenomics of Development in Populus

Energy Technology Data Exchange (ETDEWEB)

Strauss, Steve; Freitag, Michael; Mockler, Todd

2013-01-10

We conducted research to determine the role of epigenetic modifications during tree development using poplar (Populus trichocarpa), a model woody feedstock species. Using methylated DNA immunoprecipitation (MeDIP) or chromatin immunoprecipitation (ChIP), followed by high-throughput sequencing, we are analyzed DNA and histone methylation patterns in the P. trichocarpa genome in relation to four biological processes: bud dormancy and release, mature organ maintenance, in vitro organogenesis, and methylation suppression. Our project is now completed. We have 1) produced 22 transgenic events for a gene involved in DNA methylation suppression and studied its phenotypic consequences; 2) completed sequencing of methylated DNA from eleven target tissues in wildtype P. trichocarpa; 3) updated our customized poplar genome browser using the open-source software tools (2.13) and (V2.2) of the P. trichocarpa genome; 4) produced summary data for genome methylation in P. trichocarpa, including distribution of methylation across chromosomes and in and around genes; 5) employed bioinformatic and statistical methods to analyze differences in methylation patterns among tissue types; and 6) used bisulfite sequencing of selected target genes to confirm bioinformatics and sequencing results, and gain a higher-resolution view of methylation at selected genes 7) compared methylation patterns to expression using available microarray data. Our main findings of biological significance are the identification of extensive regions of the genome that display developmental variation in DNA methylation; highly distinctive gene-associated methylation profiles in reproductive tissues, particularly male catkins; a strong whole genome/all tissue inverse association of methylation at gene bodies and promoters with gene expression; a lack of evidence that tissue specificity of gene expression is associated with gene methylation; and evidence that genome methylation is a significant impediment to tissue

Shoot position affects root initiation and growth of dormant unrooted cuttings of Populus

Science.gov (United States)

R.S., Jr. Zalesny; R.B. Hall; E.O. Bauer; D.E. Riemenschneider

2003-01-01

Rooting of dormant unrooted cuttings is crucial to the commercial deployment of intensively cultured poplar (Populus spp.) plantations because it is the first biological prerequisite to stand establishment. Rooting can be genetically controlled and subject to selection. Thus, our objective was to test for differences in rooting ability among cuttings...

Clonal variation in lateral and basal rooting of Populus irrigated with landfill leachate

Science.gov (United States)

R.S. Zalesny Jr.; J.A. Zalesny

2011-01-01

Successful establishment and productivity of Populus depends upon adventitious rooting from: 1) lateral roots that develop from either preformed or induced primordia and 2) basal roots that differentiate from callus at the base of the cutting in response to wounding. Information is needed for phytotechnologies about the degree to which ...

RNA sequencing of Populus x canadensis roots identifies key molecular mechanisms underlying physiological adaption to excess zinc.

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Andrea Ariani

Full Text Available Populus x canadensis clone I-214 exhibits a general indicator phenotype in response to excess Zn, and a higher metal uptake in roots than in shoots with a reduced translocation to aerial parts under hydroponic conditions. This physiological adaptation seems mainly regulated by roots, although the molecular mechanisms that underlie these processes are still poorly understood. Here, differential expression analysis using RNA-sequencing technology was used to identify the molecular mechanisms involved in the response to excess Zn in root. In order to maximize specificity of detection of differentially expressed (DE genes, we consider the intersection of genes identified by three distinct statistical approaches (61 up- and 19 down-regulated and validate them by RT-qPCR, yielding an agreement of 93% between the two experimental techniques. Gene Ontology (GO terms related to oxidation-reduction processes, transport and cellular iron ion homeostasis were enriched among DE genes, highlighting the importance of metal homeostasis in adaptation to excess Zn by P. x canadensis clone I-214. We identified the up-regulation of two Populus metal transporters (ZIP2 and NRAMP1 probably involved in metal uptake, and the down-regulation of a NAS4 gene involved in metal translocation. We identified also four Fe-homeostasis transcription factors (two bHLH38 genes, FIT and BTS that were differentially expressed, probably for reducing Zn-induced Fe-deficiency. In particular, we suggest that the down-regulation of FIT transcription factor could be a mechanism to cope with Zn-induced Fe-deficiency in Populus. These results provide insight into the molecular mechanisms involved in adaption to excess Zn in Populus spp., but could also constitute a starting point for the identification and characterization of molecular markers or biotechnological targets for possible improvement of phytoremediation performances of poplar trees.

Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions.

Science.gov (United States)

Takeshita, Eri; Minami, Narihiro; Minami, Kumiko; Suzuki, Mikiya; Awashima, Takeya; Ishiyama, Akihiko; Komaki, Hirofumi; Nishino, Ichizo; Sasaki, Masayuki

2017-06-01

Females with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) mutations rarely exhibit clinical symptoms from childhood, although potential mechanisms for symptoms associated with DMD and BMD in females have been reported. We report the case of a female DMD patient with a clinical course indistinguishable from that of a male DMD patient, and who possessed compound heterozygous contiguous exon deletions in the dystrophin gene. She exhibited Gowers' sign, calf muscle hypertrophy, and a high serum creatine kinase level at 2 years. Her muscle pathology showed most of the fibers were negative for dystrophin immunohistochemical staining. She lost ambulation at 11 years. Multiplex ligation-dependent probe amplification analysis of this gene detected one copy of exons 48-53; she was found to be a BMD carrier with an in-frame deletion. Messenger RNA from her muscle demonstrated out-of-frame deletions of exons 48-50 and 51-53 occurring on separate alleles. Genomic DNA from her lymphocytes demonstrated the accurate deletion region on each allele. To our knowledge, this is the first report on a female patient possessing compound heterozygous contiguous exon deletions in the dystrophin gene, leading to DMD. Copyright © 2017 Elsevier B.V. All rights reserved.

Barrier to gene flow between two ecologically divergent Populus species, P. alba (white poplar) and P. tremula (European aspen): the role of ecology and life history in gene introgression.

Science.gov (United States)

Lexer, C; Fay, M F; Joseph, J A; Nica, M-S; Heinze, B

2005-04-01

The renewed interest in the use of hybrid zones for studying speciation calls for the identification and study of hybrid zones across a wide range of organisms, especially in long-lived taxa for which it is often difficult to generate interpopulation variation through controlled crosses. Here, we report on the extent and direction of introgression between two members of the "model tree" genus Populus: Populus alba (white poplar) and Populus tremula (European aspen), across a large zone of sympatry located in the Danube valley. We genotyped 93 hybrid morphotypes and samples from four parental reference populations from within and outside the zone of sympatry for a genome-wide set of 20 nuclear microsatellites and eight plastid DNA restriction site polymorphisms. Our results indicate that introgression occurs preferentially from P. tremula to P. alba via P. tremula pollen. This unidirectional pattern is facilitated by high levels of pollen vs. seed dispersal in P. tremula (pollen/seed flow = 23.9) and by great ecological opportunity in the lowland floodplain forest in proximity to P. alba seed parents, which maintains gene flow in the direction of P. alba despite smaller effective population sizes (N(e)) in this species (P. alba N(e)c. 500-550; P. tremula N(e)c. 550-700). Our results indicate that hybrid zones will be valuable tools for studying the genetic architecture of the barrier to gene flow between these two ecologically divergent Populus species.

Remetabolism of transpired ethanol by Populus deltoides

International Nuclear Information System (INIS)

MacDonald, R.C.; Kimmerer, T.W.

1990-01-01

Ethanol is present in the transpiration stream of flooded and unflooded trees in concentrations up to 0.5mM. Transpired ethanol does not evaporate but is remetabolized by foliage and upper stems in Populus deltoides. 14 C-ethanol was supplied in the transpiration stream to excised leaves and shoots; more than 98% was incorporated. Less than 1% was respired as CO 2 . Organic and amino acids were labelled initially, with eventual accumulations in water- and chloroform-soluble fractions and into protein. Much of the label was incorporated into stem tissue, with little reaching the lamina. These experiments suggest that ethanol is not lost transpirationally through the leaves, but is efficiently recycled in a manner resembling lactate recycling in mammals

Leaf chemical composition of twenty-one Populus hybrid clones grown under intensive culture

Science.gov (United States)

Richard E. Dickson; Philip R. Larson

1976-01-01

Leaf material from 21 nursery-grown Populus hybrid clones was analyzed for three nitrogen fractions (total N, soluble protein, and soluble amino acids) and three carbhydrate fractions (reducing sugars, total soluble sugars, and total nonstructural carbohydrates-TNC). In addition, nursery-grown green ash and silver maple, field-grown bigtooth and trembling aspen, and...

Significant differences in gene expression and key genetic components associated with high growth vigor in populus section tacamahaca as revealed by comparative transcriptome analysis

International Nuclear Information System (INIS)

Cheng, S.; Chen, M.; Li, Y.; Wang, J.; Sun, X.; Wang, J.

2017-01-01

To identify genetic components involved in high growth vigor in F1 Populus section Tacamahaca hybrid plants, high and low vigor plants showing significant differences in apical dominance during a rapid growth period were selected. Apical bud transcriptomes of high and low-growth-vigor hybrids and their parents were analyzed using high-throughput RNA sequencing on an Illumina HiSeq 2000 platform. A total of 5,542 genes were differently expressed between high growth vigor hybrid and its parents, the genes were significantly enriched in pathways related to processes such as photosynthesis, pyrimidine ribonucleotide biosynthetic processes and nucleoside metabolic processes. There were 1410 differentially expressed genes between high and low growth vigor hybrid, the genes were mainly involved in photosynthesis, chlorophyll biosynthetic process, carbon fixation in photosynthetic organisms, porphyrin and chlorophyll metabolism and nitrogen metabolism. Moreover, a k-core of a gene co-expression network analysis was performed to identify the potential functions of genes related to high growth vigor. The functions of 8 selected candidate genes were associated mainly with circadian rhythm, water transport, cellulose catabolic processes, sucrose biosynthesis, pyrimidine ribonucleotide biosynthesis, purine nucleotide biosynthesis, meristem maintenance, and carbohydrate metabolism. Our results may contribute to a better understanding of the molecular basis of high growth vigor in hybrids and its regulation. (author)

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.

Science.gov (United States)

Arnaud, Pauline; Hanna, Nadine; Aubart, Mélodie; Leheup, Bruno; Dupuis-Girod, Sophie; Naudion, Sophie; Lacombe, Didier; Milleron, Olivier; Odent, Sylvie; Faivre, Laurence; Bal, Laurence; Edouard, Thomas; Collod-Beroud, Gwenaëlle; Langeois, Maud; Spentchian, Myrtille; Gouya, Laurent; Jondeau, Guillaume; Boileau, Catherine

2017-02-01

Marfan syndrome (MFS) is an autosomal-dominant connective tissue disorder usually associated with heterozygous mutations in the gene encoding fibrillin-1 (FBN1). Homozygous and compound heterozygous cases are rare events and have been associated with a clinical severe presentation. Report unexpected findings of homozygosity and compound heterozygosity in the course of molecular diagnosis of heterozygous MFS and compare the findings with published cases. In the context of molecular diagnosis of heterozygous MFS, systematic sequencing of the FBN1 gene was performed in 2500 probands referred nationwide. 1400 probands carried a heterozygous mutation in this gene. Unexpectedly, among them four homozygous cases (0.29%) and five compound heterozygous cases (0.36%) were identified (total: 0.64%). Interestingly, none of these cases carried two premature termination codon mutations in the FBN1 gene. Clinical features for these carriers and their families were gathered and compared. There was a large spectrum of severity of the disease in probands carrying two mutated FBN1 alleles, but none of them presented extremely severe manifestations of MFS in any system compared with carriers of only one mutated FBN1 allele. This observation is not in line with the severe clinical features reported in the literature for four homozygous and three compound heterozygous probands. Homozygotes and compound heterozygotes were unexpectedly identified in the course of molecular diagnosis of MFS. Contrary to previous reports, the presence of two mutated alleles was not associated with severe forms of MFS. Although homozygosity and compound heterozygosity are rarely found in molecular diagnosis, they should not be overlooked, especially among consanguineous families. However, no predictive evaluation of severity should be provided. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Xylan hydrolysis in Populus trichocarpa × P. deltoides and model substrates during hydrothermal pretreatment.

Science.gov (United States)

Trajano, Heather L; Pattathil, Sivakumar; Tomkins, Bruce A; Tschaplinski, Timothy J; Hahn, Michael G; Van Berkel, Gary J; Wyman, Charles E

2015-03-01

Previous studies defined easy and difficult to hydrolyze fractions of hemicellulose that may result from bonds among cellulose, hemicellulose, and lignin. To understand how such bonds affect hydrolysis, Populus trichocarpa × Populus deltoides, holocellulose isolated from P. trichocarpa × P. deltoides and birchwood xylan were subjected to hydrothermal flow-through pretreatment. Samples were characterized by glycome profiling, HPLC, and UPLC-MS. Glycome profiling revealed steady fragmentation and removal of glycans from solids during hydrolysis. The extent of polysaccharide fragmentation, hydrolysis rate, and total xylose yield were lowest for P. trichocarpa × P. deltoides and greatest for birchwood xylan. Comparison of results from P. trichocarpa × P. deltoides and holocellulose suggested that lignin-carbohydrate complexes reduce hydrolysis rates and limit release of large xylooligomers. Smaller differences between results with holocellulose and birchwood xylan suggest xylan-cellulose hydrogen bonds limited hydrolysis, but to a lesser extent. These findings imply cell wall structure strongly influences hydrolysis. Copyright © 2014 Elsevier Ltd. All rights reserved.

Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family

Directory of Open Access Journals (Sweden)

Yunqiang Liu

2017-06-01

Full Text Available Abstract Anophthalmia is a rare eye development anomaly resulting in absent ocular globes or tissue in the orbit since birth. Here, we investigated a newborn with bilateral anophthalmia in a Chinese family. Exome sequencing revealed that compound heterozygous mutations c.287G > A (p.(Arg96His and c.709G > A (p.(Gly237Arg of the ALDH1A3 gene were present in the affected newborn. Both mutations were absent in all of the searched databases, including 10,000 in-house Chinese exome sequences, and these mutations were confirmed as having been transmitted from the parents. Comparative amino acid sequence analysis across distantly related species revealed that the residues at positions 96 and 234 were evolutionarily highly conserved. In silico analysis predicted these changes to be damaging, and in vitro expression analysis revealed that the mutated alleles were associated with decreased protein production and impaired tetrameric protein formation. This study firstly reported that compound heterozygous mutations of the ALDH1A3 gene can result in anophthalmia in humans, thus highlighting those heterozygous mutations in ALDH1A3 should be considered for molecular screening in anophthalmia, particularly in cases from families without consanguineous relationships.

Influence of Populus Genotype on Gene Expression by the Wood Decay Fungus Phanerochaete chrysosporium

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Jill Gaskell; Amber Marty; Michael Mozuch; Philip J. Kersten; Sandra Splinter Bondurant; Grzegorz Sabat; Ali Azarpira; John Ralph; Oleksandr Skyba; Shawn D. Mansfield; Robert A. Blanchette; Dan Cullen

2014-01-01

We examined gene expression patterns in the lignin-degrading fungus Phanerochaete chrysosporium when it colonizes hybrid poplar (Populus alba tremula) and syringyl (S)-rich transgenic derivatives. Acombination ofmicroarrays and liquid chromatography- tandem mass spectrometry (LC-MS/MS) allowed detection of a total of 9,959 transcripts and 793...

Diversity of Pseudomonas Genomes, Including Populus-Associated Isolates, as Revealed by Comparative Genome Analysis.

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Jun, Se-Ran; Wassenaar, Trudy M; Nookaew, Intawat; Hauser, Loren; Wanchai, Visanu; Land, Miriam; Timm, Collin M; Lu, Tse-Yuan S; Schadt, Christopher W; Doktycz, Mitchel J; Pelletier, Dale A; Ussery, David W

2016-01-01

The Pseudomonas genus contains a metabolically versatile group of organisms that are known to occupy numerous ecological niches, including the rhizosphere and endosphere of many plants. Their diversity influences the phylogenetic diversity and heterogeneity of these communities. On the basis of average amino acid identity, comparative genome analysis of >1,000 Pseudomonas genomes, including 21 Pseudomonas strains isolated from the roots of native Populus deltoides (eastern cottonwood) trees resulted in consistent and robust genomic clusters with phylogenetic homogeneity. All Pseudomonas aeruginosa genomes clustered together, and these were clearly distinct from other Pseudomonas species groups on the basis of pangenome and core genome analyses. In contrast, the genomes of Pseudomonas fluorescens were organized into 20 distinct genomic clusters, representing enormous diversity and heterogeneity. Most of our 21 Populus-associated isolates formed three distinct subgroups within the major P. fluorescens group, supported by pathway profile analysis, while two isolates were more closely related to Pseudomonas chlororaphis and Pseudomonas putida. Genes specific to Populus-associated subgroups were identified. Genes specific to subgroup 1 include several sensory systems that act in two-component signal transduction, a TonB-dependent receptor, and a phosphorelay sensor. Genes specific to subgroup 2 contain hypothetical genes, and genes specific to subgroup 3 were annotated with hydrolase activity. This study justifies the need to sequence multiple isolates, especially from P. fluorescens, which displays the most genetic variation, in order to study functional capabilities from a pangenomic perspective. This information will prove useful when choosing Pseudomonas strains for use to promote growth and increase disease resistance in plants. Copyright © 2015 Jun et al.

Soil temperature and precipitation affect the rooting ability of dormant hardwood cuttings of Populus

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R.S., Jr. Zalesny; R.B. Hall; E.O. Bauer; D.E. Riemenschneider

2005-01-01

In addition to genetic control, responses to environmental stimuli affect the success of rooting. Our objectives were to: 1) assess the variation in rooting ability among 21 Populus clones grown under varying soil temperatures and amounts of precipitation and 2) identify combinations of soil temperature and precipitation that promote rooting. The...

Identification and allelic dissection uncover roles of lncRNAs in secondary growth of Populus tomentosa.

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Zhou, Daling; Du, Qingzhang; Chen, Jinhui; Wang, Qingshi; Zhang, Deqiang

2017-10-01

Long non-coding RNAs (lncRNAs) function in various biological processes. However, their roles in secondary growth of plants remain poorly understood. Here, 15,691 lncRNAs were identified from vascular cambium, developing xylem, and mature xylem of Populus tomentosa with high and low biomass using RNA-seq, including 1,994 lncRNAs that were differentially expressed (DE) among the six libraries. 3,569 cis-regulated and 3,297 trans-regulated protein-coding genes were predicted as potential target genes (PTGs) of the DE lncRNAs to participate in biological regulation. Then, 476 and 28 lncRNAs were identified as putative targets and endogenous target mimics (eTMs) of Populus known microRNAs (miRNAs), respectively. Genome re-sequencing of 435 individuals from a natural population of P. tomentosa found 34,015 single nucleotide polymorphisms (SNPs) within 178 lncRNA loci and 522 PTGs. Single-SNP associations analysis detected 2,993 associations with 10 growth and wood-property traits under additive and dominance model. Epistasis analysis identified 17,656 epistatic SNP pairs, providing evidence for potential regulatory interactions between lncRNAs and their PTGs. Furthermore, a reconstructed epistatic network, representing interactions of 8 lncRNAs and 15 PTGs, might enrich regulation roles of genes in the phenylpropanoid pathway. These findings may enhance our understanding of non-coding genes in plants. © The Author 2017. Published by Oxford University Press on behalf of Kazusa DNA Research Institute.

Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder

OpenAIRE

Fuchs, Claudia; Gennaccaro, Laura; Trazzi, Stefania; Bastianini, Stefano; Bettini, Simone; Martire, Viviana Lo; Ren, Elisa; Medici, Giorgio; Zoccoli, Giovanna; Rimondini, Roberto; Ciani, Elisabetta

2018-01-01

CDKL5 disorder is a severe neurodevelopmental disorder caused by mutations in the X-linked CDKL5 (cyclin-dependent kinase-like five) gene. CDKL5 disorder primarily affects girls and is characterized by early-onset epileptic seizures, gross motor impairment, intellectual disability, and autistic features. Although all CDKL5 female patients are heterozygous, the most valid disease-related model, the heterozygous female Cdkl5 knockout (Cdkl5 +/−) mouse, has been little characterized. The lack of...

Heterozygous loss of TSC2 alters p53 signaling and human stem cell reprogramming.

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Armstrong, Laura C; Westlake, Grant; Snow, John P; Cawthon, Bryan; Armour, Eric; Bowman, Aaron B; Ess, Kevin C

2017-12-01

Tuberous sclerosis complex (TSC) is a pediatric disorder of dysregulated growth and differentiation caused by loss of function mutations in either the TSC1 or TSC2 genes, which regulate mTOR kinase activity. To study aberrations of early development in TSC, we generated induced pluripotent stem cells using dermal fibroblasts obtained from patients with TSC. During validation, we found that stem cells generated from TSC patients had a very high rate of integration of the reprogramming plasmid containing a shRNA against TP53. We also found that loss of one allele of TSC2 in human fibroblasts is sufficient to increase p53 levels and impair stem cell reprogramming. Increased p53 was also observed in TSC2 heterozygous and homozygous mutant human stem cells, suggesting that the interactions between TSC2 and p53 are consistent across cell types and gene dosage. These results support important contributions of TSC2 heterozygous and homozygous mutant cells to the pathogenesis of TSC and the important role of p53 during reprogramming. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Genome-wide prediction methods in highly diverse and heterozygous species: proof-of-concept through simulation in grapevine.

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Agota Fodor

Full Text Available Nowadays, genome-wide association studies (GWAS and genomic selection (GS methods which use genome-wide marker data for phenotype prediction are of much potential interest in plant breeding. However, to our knowledge, no studies have been performed yet on the predictive ability of these methods for structured traits when using training populations with high levels of genetic diversity. Such an example of a highly heterozygous, perennial species is grapevine. The present study compares the accuracy of models based on GWAS or GS alone, or in combination, for predicting simple or complex traits, linked or not with population structure. In order to explore the relevance of these methods in this context, we performed simulations using approx 90,000 SNPs on a population of 3,000 individuals structured into three groups and corresponding to published diversity grapevine data. To estimate the parameters of the prediction models, we defined four training populations of 1,000 individuals, corresponding to these three groups and a core collection. Finally, to estimate the accuracy of the models, we also simulated four breeding populations of 200 individuals. Although prediction accuracy was low when breeding populations were too distant from the training populations, high accuracy levels were obtained using the sole core-collection as training population. The highest prediction accuracy was obtained (up to 0.9 using the combined GWAS-GS model. We thus recommend using the combined prediction model and a core-collection as training population for grapevine breeding or for other important economic crops with the same characteristics.

Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.

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Marsh, Judith C W; Gutierrez-Rodrigues, Fernanda; Cooper, James; Jiang, Jie; Gandhi, Shreyans; Kajigaya, Sachiko; Feng, Xingmin; Ibanez, Maria Del Pilar F; Donaires, Flávia S; Lopes da Silva, João P; Li, Zejuan; Das, Soma; Ibanez, Maria; Smith, Alexander E; Lea, Nicholas; Best, Steven; Ireland, Robin; Kulasekararaj, Austin G; McLornan, Donal P; Pagliuca, Anthony; Callebaut, Isabelle; Young, Neal S; Calado, Rodrigo T; Townsley, Danielle M; Mufti, Ghulam J

2018-01-09

Biallelic germline mutations in RTEL1 (regulator of telomere elongation helicase 1) result in pathologic telomere erosion and cause dyskeratosis congenita. However, the role of RTEL1 mutations in other bone marrow failure (BMF) syndromes and myeloid neoplasms, and the contribution of monoallelic RTEL1 mutations to disease development are not well defined. We screened 516 patients for germline mutations in telomere-associated genes by next-generation sequencing in 2 independent cohorts; one constituting unselected patients with idiopathic BMF, unexplained cytopenia, or myeloid neoplasms (n = 457) and a second cohort comprising selected patients on the basis of the suspicion of constitutional/familial BMF (n = 59). Twenty-three RTEL1 variants were identified in 27 unrelated patients from both cohorts: 7 variants were likely pathogenic, 13 were of uncertain significance, and 3 were likely benign. Likely pathogenic RTEL1 variants were identified in 9 unrelated patients (7 heterozygous and 2 biallelic). Most patients were suspected to have constitutional BMF, which included aplastic anemia (AA), unexplained cytopenia, hypoplastic myelodysplastic syndrome, and macrocytosis with hypocellular bone marrow. In the other 18 patients, RTEL1 variants were likely benign or of uncertain significance. Telomeres were short in 21 patients (78%), and 3' telomeric overhangs were significantly eroded in 4. In summary, heterozygous RTEL1 variants were associated with marrow failure, and telomere length measurement alone may not identify patients with telomere dysfunction carrying RTEL1 variants. Pathogenicity assessment of heterozygous RTEL1 variants relied on a combination of clinical, computational, and functional data required to avoid misinterpretation of common variants.

Arbuscular mycorrhizal fungi associated with Populus-Salix stands in a semiarid riparian ecosystem

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Beauchamp, Vanessa B.; Stromberg, J.C.; Stutz, J.C.

2006-01-01

??? This study examined the activity, species richness, and species composition of the arbuscular mycorrhizal fungal (AMF) community of Populus-Salix stands on the Verde River (Arizona, USA), quantified patterns of AMF richness and colonization along complex floodplain gradients, and identified environmental variables responsible for structuring the AMF community. ??? Samples from 61 Populus-Salix stands were analyzed for AMF and herbaceous composition, AMF colonization, gravimetric soil moisture, soil texture, per cent organic matter, pH, and concentrations of nitrate, bicarbonate phosphorus and exchangeable potassium. ??? AMF species richness declined with stand age and distance from and elevation above the channel and was positively related to perennial species cover and richness and gravimetric soil moisture. Distance from and elevation above the active channel, forest age, annual species cover, perennial species richness, and exchangeable potassium concentration all played a role in structuring the AMF community in this riparian area. ??? Most AMF species were found across a wide range of soil conditions, but a subset of species tended to occur more often in hydric areas. This group of riparian affiliate AMF species includes several not previously encountered in the surrounding Sonoran desert. ?? New Phytologist (2006).

Climate, migration, and the local food security context: Introducing Terra Populus

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Schlak, Allison M.; Kugler, Tracy A.

2016-01-01

Studies investigating the connection between environmental factors and migration are difficult to execute because they require the integration of microdata and spatial information. In this article, we introduce the novel, publically available data extraction system Terra Populus (TerraPop), which was designed to facilitate population-environment studies. We showcase the use of TerraPop by exploring variations in the climate-migration association in Burkina Faso and Senegal based on differences in the local food security context. Food security was approximated using anthropometric indicators of child stunting and wasting derived from Demographic and Health Surveys (DHS) and linked to the TerraPop extract of climate and migration information. We find that an increase in heat waves was associated with a decrease in international migration from Burkina Faso, while excessive precipitation increased international moves from Senegal. Significant interactions reveal that the adverse effects of heat waves and droughts are strongly amplified in highly food insecure Senegalese departments. PMID:27974863

Effects of summer and winter harvesting on element phytoextraction efficiency of Salix and Populus clones planted on contaminated soil.

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Kubátová, Pavla; Száková, Jiřina; Břendová, Kateřina; Kroulíková-Vondráčková, Stanislava; Mercl, Filip; Tlustoš, Pavel

2018-04-16

The clones of fast-growing trees (FGTs) were investigated for phytoextraction of soil contaminated with risk elements (REs), especially Cd, Pb, and Zn. As a main experimental factor, the potential effect of biomass harvesting time was assessed. The field experiment with two Salix clones (S1 - (Salix schwerinii × Salix viminalis) × S. viminalis, S2 - S. × smithiana) and two Populus clones (P1 - Populus maximowiczii × Populus nigra, P2 - P. nigra) was established in April 2009. Shoots of all clones were first harvested in February 2012. After two further growing seasons, the first half of the trees was harvested in September 2013 before leaf fall (summer harvest) and the second half in February 2014 (winter harvest). Remediation factors (RFs) for all clones and all REs (except Pb for clone S1) were higher in the summer harvest. The highest annual RFs for Cd and for Zn (1.34 and 0.67%, respectively) were found for clone S2 and were significantly higher than other clones. Although no increased mortality of trees harvested in the summer was detected in the following season, the effect of summer harvesting on the phytoextraction potential of FGTs clones should be investigated in long-term studies.

Characterization of cytokinin signaling and homeostasis gene families in two hardwood tree species: Populus trichocarpa and Prunus persica.

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Immanen, Juha; Nieminen, Kaisa; Duchens Silva, Héctor; Rodríguez Rojas, Fernanda; Meisel, Lee A; Silva, Herman; Albert, Victor A; Hvidsten, Torgeir R; Helariutta, Ykä

2013-12-16

Through the diversity of cytokinin regulated processes, this phytohormone has a profound impact on plant growth and development. Cytokinin signaling is involved in the control of apical and lateral meristem activity, branching pattern of the shoot, and leaf senescence. These processes influence several traits, including the stem diameter, shoot architecture, and perennial life cycle, which define the development of woody plants. To facilitate research about the role of cytokinin in regulation of woody plant development, we have identified genes associated with cytokinin signaling and homeostasis pathways from two hardwood tree species. Taking advantage of the sequenced black cottonwood (Populus trichocarpa) and peach (Prunus persica) genomes, we have compiled a comprehensive list of genes involved in these pathways. We identified genes belonging to the six families of cytokinin oxidases (CKXs), isopentenyl transferases (IPTs), LONELY GUY genes (LOGs), two-component receptors, histidine containing phosphotransmitters (HPts), and response regulators (RRs). All together 85 Populus and 45 Prunus genes were identified, and compared to their Arabidopsis orthologs through phylogenetic analyses. In general, when compared to Arabidopsis, differences in gene family structure were often seen in only one of the two tree species. However, one class of genes associated with cytokinin signal transduction, the CKI1-like family of two-component histidine kinases, was larger in both Populus and Prunus than in Arabidopsis.

Field performance of Populus in short-rotation intensive culture plantations in the north-central U.S.

Science.gov (United States)

Edward A. Hansen; Michael E. Ostry; Wendell D. Johnson; David N. Tolsted; Daniel A. Netzer; William E. Berguson; Richard B. Hall

1994-01-01

Describes a network of short-rotation, Populus research and demonstration plantations that has been established across a 5-state region in the north-central U.S. to identify suitable hybrid poplar clones for large-scale biomass plantations in the region. Reports 6-year results.

The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots.

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Tai, Chang-Long; Liu, Mei-Ying; Yu, Hsiao-Chi; Chiang, Chiang-Chuan; Chiang, Hung; Suen, Jeng-Hung; Kao, Shu-Min; Huang, Yu-Hsiu; Wu, Tina Jui-Ting; Yang, Chia-Feng; Tsai, Fang-Chih; Lin, Ching-Yuang; Chang, Jan-Gowth; Chen, Hong-Duo; Niu, Dau-Ming

2012-02-18

As an X-linked genetic disorder, Fabry disease was first thought to affect males only, and females were generally considered to be asymptomatic carriers. However, recent research suggests that female carriers of Fabry disease may still develop vital organ damage causing severe morbidity and mortality. In the previous newborn screening, from 299,007 newborns, we identified a total of 20 different Fabry mutations and 121 newborns with Fabry mutations. However, we found that most female carriers are not detected by enzyme assays. A streamlined method for high resolution melting (HRM) analysis was designed to screen for GLA gene mutations using a same PCR and melting program. Primer sets were designed to cover the 7 exons and the Chinese common intronic mutation, IVS4+919G>A of GLA gene. The HRM analysis was successful in identifying heterozygous and hemizygous patients with the 20 surveyed mutations. We were also successful in using this method to test dry blood spots of newborns afflicted with Fabry mutations without having to determine DNA concentration before PCR amplification. The results of this study show that HRM could be a reliable and sensitive method for use in the rapid screening of females for GLA mutations. Copyright © 2011 Elsevier B.V. All rights reserved.

[Molecular characterization of heterozygous beta-thalassemia in Lanzarote, Spain].

Science.gov (United States)

Calvo-Villas, José Manuel; de la Iglesia Iñigo, Silvia; Ropero Gradilla, Paloma; Zapata Ramos, María Francisca; Cuesta Tovar, Jorge; Sicilia Guillén, Francisco

2008-04-05

The aim of this study was to determine the molecular defects of heterozygous beta thalassaemia and to ascertain their distribution in Lanzarote. Molecular characterization was achieved by real time polymerase chain reaction (RT-PCR LightCycler, Roche), PCR-ARMS (PCR-amplification reaction mutations system) and DNA sequencing on an automated DNA sequencer. Two hundred forty-three heterozygous beta thalassaemia carriers were included between July 1991 and February 2007. RT-PCR detected the molecular defect in 81% of the beta thalassaemia chromosomes analyzed [113 codon CD 39 (C --> T); 41 IVS-1-nt-110 (G --> A), 25 IVS 1-nt-1 (G --> A) and 19 IVS 1-nt-6 (T --> C)]. The remaining 12 molecular defects included the deletion 619 bp (7.8%) and the mutations -28 (A --> G), IVS1-nt-2 (T --> G), CD 41/42 (-TTCT), CD 8/9 (+G), CD 51 (-C), CD 22 (G --> T) and CD 24 (T --> A), CD 67 (-TG) and the novel mutation CD 20/21-TGGA. The distribution of the mutations is similar to that found in the Mediterranean area. The increasing migratory flow received in the Canary Islands may explain the emergence of new mutations not reported before in our area.

Quantitating PrP Polymorphisms Present in Prions from Heterozygous Scrapie-Infected Sheep.

Science.gov (United States)

Silva, Christopher J; Erickson-Beltran, Melissa L; Hui, Colleen; Badiola, Juan José; Nicholson, Eric M; Requena, Jesús R; Bolea, Rosa

2017-01-03

Scrapie is a prion (PrP Sc ) disease of sheep. The incubation period of sheep scrapie is strongly influenced by polymorphisms at positions 136, 154, and 171 of a sheep's normal cellular prion protein (PrP C ). Chymotrypsin was used to digest sheep recombinant PrP to identify a set of characteristic peptides [M 132 LGSXMSRPL 141 (X = A or V), Y 153 XENMY 158 (X,= H or R), and Y 166 RPVDXY 172 (X = H, K, Q, or R)] that could be used to detect and quantitate polymorphisms at positions 136, 154, and 171 of sheep PrP C or PrP Sc . These peptides were used to develop a multiple reaction monitoring method (MRM) to detect the amounts of a particular polymorphism in a sample of PrP Sc isolated from sheep heterozygous for their PrP C proteins. The limit of detection for these peptides was less than 50 attomole. Spinal cord tissue from heterozygous (ARQ/VRQ or ARH/ARQ) scrapie-infected Rasa Aragonesa sheep was analyzed using this MRM method. Both sets of heterozygotes show the presence of both polymorphisms in PrP Sc . This was true for samples containing both proteinase K (PK)-sensitive and PK-resistant PrP Sc and samples containing only the PK-resistant PrP Sc . These results show that heterozygous animals contain PrP Sc that is composed of significant amounts of both PrP polymorphisms.

X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriers

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Charles Marques Lourenço

2012-07-01

Full Text Available X-linked adrenoleukodystrophy (X-ALD is a recessive X-linked disorder associated with marked phenotypic variability. Female carriers are commonly thought to be normal or only mildly affected, but their disease still needs to be better described and systematized. OBJECTIVES: To review and systematize the clinical features of heterozygous women followed in a Neurogenetics Clinic. METHODS: We reviewed the clinical, biochemical, and neuroradiological data of all women known to have X-ADL. RESULTS: The nine women identified were classified into three groups: with severe and aggressive diseases; with slowly progressive, spastic paraplegia; and with mildly decreased vibratory sensation, brisk reflexes, and no complaints. Many of these women did not have a known family history of X-ALD. CONCLUSIONS: Heterozygous women with X-ADL have a wide spectrum of clinical manifestations, ranging from mild to severe phenotypes.

Use of belowground growing degree days to predict rooting of dormant hardwood cuttings of Populus

Science.gov (United States)

R.S., Jr. Zalesny; E.O. Bauer; D.E. Riemenschneider

2004-01-01

Planting Populus cuttings based on calendar days neglects soil temperature extremes and does not promote rooting based on specific genotypes. Our objectives were to: 1) test the biological efficacy of a thermal index based on belowground growing degree days (GDD) across the growing period, 2) test for interactions between belowground GDD and clones,...

Litter Quality of Populus Species as Affected by Free-Air CO2

OpenAIRE

Vermue, E.; Buurman, P.; Hoosbeek, M.R.

2009-01-01

The effect of elevated CO2 and nitrogen fertilization on the molecular chemistry of litter of three Populus species and associated soil organic matter (SOM) was investigated by pyrolysis-gas chromatography/mass spectrometry. The results are based on 147 quantified organic compounds in 24 litter samples. Litter of P. euramerica was clearly different from that of P. nigra and P. alba. The latter two had higher contents of proteins, polysaccharides, and cutin/cutan, while the former had higher c...

DNA damage in Populus tremuloides clones exposed to elevated O3

International Nuclear Information System (INIS)

Tai, Helen H.; Percy, Kevin E.; Karnosky, David F.

2010-01-01

The effects of elevated concentrations of atmospheric tropospheric ozone (O 3 ) on DNA damage in five trembling aspen (Populus tremuloides Michx.) clones growing in a free-air enrichment experiment in the presence and absence of elevated concentrations of carbon dioxide (CO 2 ) were examined. Growing season mean hourly O 3 concentrations were 36.3 and 47.3 ppb for ambient and elevated O 3 plots, respectively. The 4th highest daily maximum 8-h ambient and elevated O 3 concentrations were 79 and 89 ppb, respectively. Elevated CO 2 averaged 524 ppm (+150 ppm) over the growing season. Exposure to O 3 and CO 2 in combination with O 3 increased DNA damage levels above background as measured by the comet assay. Ozone-tolerant clones 271 and 8L showed the highest levels of DNA damage under elevated O 3 compared with ambient air; whereas less tolerant clone 216 and sensitive clones 42E and 259 had comparably lower levels of DNA damage with no significant differences between elevated O 3 and ambient air. Clone 8L was demonstrated to have the highest level of excision DNA repair. In addition, clone 271 had the highest level of oxidative damage as measured by lipid peroxidation. The results suggest that variation in cellular responses to DNA damage between aspen clones may contribute to O 3 tolerance or sensitivity. - Ozone tolerant clones and sensitive Populus tremuloides clones show differences in DNA damage and repair.

Assay for identification of heterozygous single-nucleotide polymorphism (Ala67Thr in human poliovirus receptor gene

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Shyam Sundar Nandi

2016-01-01

Results: A new SNP assay for detection of heterozygous Ala67Thr genotype was developed and validated by testing 150 DNA samples. Heterozygous CD155 was detected in 27.33 per cent (41/150 of DNA samples tested by both SNP detection assay and sequencing. Interpretation & conclusions: The SNP detection assay was successfully developed for identification of Ala67Thr polymorphism in human PVR/CD155 gene. The SNP assay will be useful for large scale screening of DNA samples.

Deserts in the Deluge: TerraPopulus and Big Human-Environment Data.

Science.gov (United States)

Manson, S M; Kugler, T A; Haynes, D

2016-01-01

Terra Populus, or TerraPop, is a cyberinfrastructure project that integrates, preserves, and disseminates massive data collections describing characteristics of the human population and environment over the last six decades. TerraPop has made a number of GIScience advances in the handling of big spatial data to make information interoperable between formats and across scientific communities. In this paper, we describe challenges of these data, or 'deserts in the deluge' of data, that are common to spatial big data more broadly, and explore computational solutions specific to microdata, raster, and vector data models.

A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.

Science.gov (United States)

Pedace, Lucia; Castori, Marco; Binni, Francesco; Pingi, Alberto; Grammatico, Barbara; Scommegna, Salvatore; Majore, Silvia; Grammatico, Paola

2009-01-01

Anophthalmia/microphthalmia is a rare developmental craniofacial defect, which recognizes a wide range of causes, including chromosomal abnormalities, single-gene mutations as well as environmental factors. Heterozygous mutations in the SOX2 gene are the most common monogenic form of anophthalmia/microphthalmia, as they are reported in up to 10-15% cases. Here, we describe a sporadic patient showing bilateral anophthalmia/microphthalmia and micropenis caused by a novel mutation (c.59_60insGG) in the SOX2 gene. Morphological and endocrinological evaluations excluded any anomaly of the hypothalamus-pituitary axis. Our finding supports the hypothesis that SOX2 is particularly prone to slipped-strand mispairing, which results in a high frequency of point deletions/insertions.

Formation of wood secondary cell wall may involve two type cellulose synthase complexes in Populus.

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Xi, Wang; Song, Dongliang; Sun, Jiayan; Shen, Junhui; Li, Laigeng

2017-03-01

Cellulose biosynthesis is mediated by cellulose synthases (CesAs), which constitute into rosette-like cellulose synthase complexe (CSC) on the plasma membrane. Two types of CSCs in Arabidopsis are believed to be involved in cellulose synthesis in the primary cell wall and secondary cell walls, respectively. In this work, we found that the two type CSCs participated cellulose biosynthesis in differentiating xylem cells undergoing secondary cell wall thickening in Populus. During the cell wall thickening process, expression of one type CSC genes increased while expression of the other type CSC genes decreased. Suppression of different type CSC genes both affected the wall-thickening and disrupted the multilaminar structure of the secondary cell walls. When CesA7A was suppressed, crystalline cellulose content was reduced, which, however, showed an increase when CesA3D was suppressed. The CesA suppression also affected cellulose digestibility of the wood cell walls. The results suggest that two type CSCs are involved in coordinating the cellulose biosynthesis in formation of the multilaminar structure in Populus wood secondary cell walls.

Cryopreservation of Populus trichocarpa and Salix dormant buds with recovery by grafting or direct rooting.

Science.gov (United States)

Bonnart, Remi; Waddell, John; Haiby, Kathy; Widrlenchner, Mark P; Volk, Gayle M

2014-01-01

Methods are needed for the conservation of clonally maintained trees of Populus and Salix. In this work, Populus trichocarpa and Salix genetic resources were cryopreserved using dormant scions as the source explant. We quantified the recovery of cryopreserved materials that originated from diverse field environments by using either direct sprouting or grafting. Scions (either at their original moisture content of 48 to 60% or dried to 30%) were slowly cooled to -35 degree C, transferred to the vapor phase of liquid nitrogen (LNV, -160 degree C), and warmed before determining survival. Dormant buds from P. trichocarpa clones from Westport and Boardman, OR had regrowth levels between 42 and 100%. Direct rooting of cryopreserved P. trichocarpa was also possible. Ten of 11 cryopreserved Salix accessions, representing 10 different species, exhibited at least 40% bud growth and rooting after 6 weeks when a bottom-heated rooting system was implemented. We demonstrate that dormant buds of P. trichocarpa and Salix accessions can be cryopreserved and successfully regenerated without the use of tissue culture.

Biomass traits and candidate genes for bioenergy revealed through association genetics in coppiced European Populus nigra (L.)

NARCIS (Netherlands)

Allwright, Mike Robert; Payne, Adrienne; Emiliani, Giovanni; Milner, Suzanne; Viger, Maud; Rouse, Franchesca; Keurentjes, Joost J.B.; Bérard, Aurélie; Wildhagen, Henning; Faivre-Rampant, Patricia; Polle, Andrea; Morgante, Michele; Taylor, Gail

2016-01-01

Background: Second generation (2G) bioenergy from lignocellulosic feedstocks has the potential to develop as a sustainable source of renewable energy; however, significant hurdles still remain for large-scale commercialisation. Populus is considered as a promising 2G feedstock and understanding

Hsf and Hsp gene families in Populus: genome-wide identification, organization and correlated expression during development and in stress responses.

Science.gov (United States)

Zhang, Jin; Liu, Bobin; Li, Jianbo; Zhang, Li; Wang, Yan; Zheng, Huanquan; Lu, Mengzhu; Chen, Jun

2015-03-14

Heat shock proteins (Hsps) are molecular chaperones that are involved in many normal cellular processes and stress responses, and heat shock factors (Hsfs) are the transcriptional activators of Hsps. Hsfs and Hsps are widely coordinated in various biological processes. Although the roles of Hsfs and Hsps in stress responses have been well characterized in Arabidopsis, their roles in perennial woody species undergoing various environmental stresses remain unclear. Here, a comprehensive identification and analysis of Hsf and Hsp families in poplars is presented. In Populus trichocarpa, we identified 42 paralogous pairs, 66.7% resulting from a whole genome duplication. The gene structure and motif composition are relatively conserved in each subfamily. Microarray and quantitative real-time RT-PCR analyses showed that most of the Populus Hsf and Hsp genes are differentially expressed upon exposure to various stresses. A coexpression network between Populus Hsf and Hsp genes was generated based on their expression. Coordinated relationships were validated by transient overexpression and subsequent qPCR analyses. The comprehensive analysis indicates that different sets of PtHsps are downstream of particular PtHsfs and provides a basis for functional studies aimed at revealing the roles of these families in poplar development and stress responses.

Transport and use of CO2 in the xylem sap of Populus deltoides

International Nuclear Information System (INIS)

Stringer, J.W.; Kimmerer, T.W.

1990-01-01

Results of recent experiments indicate an internal cycling of respiratory CO 2 in woody plants. The CO 2 concentration of xylem sap expressed from the twigs of field grown Populus deltoides ranged from .14 to .50 mM. The pH of the xylem sap was 5.7 to 6.7, providing a significant bicarbonate concentration in many samples. Total dissolved inorganic carbon (DIC = CO 2 + H 2 CO 3 + HCO 3 - ) was 0.5 mM to 1.3 mM. Results from the analysis of xylem sap of 10 other species of woody plants were similar. To determine the fate of DIC delivered to the leaves of Populus deltoides, excised leaves were fed 1mM NaHCO 3 (2 μCi NaH 14 CO 3 ml -1 ). Less than 0.4% of the label escaped from the leaves, and ≥93% was fixed. Of the carbon fixed 56% of the 14 C was found in the petiole and midrib, and 14% was in the major veins, with the remaining 30% in the minor veins and lamina. Shading of the peptiole and midrib of leaves decreased the amount of fixed carbon in these tissues to 38% and increased the amount in the lamina to 55%

Frequency of Gγ-globin promoter -158 (C>T) XmnI polymorphism in patients with homozygous/compound heterozygous beta thalassaemia.

Science.gov (United States)

Ali, Nadir; Ayyub, Muhammad; Khan, Saleem Ahmed; Ahmed, Suhaib; Abbas, Kazim; Malik, Hamid Saeed; Tashfeen, Sunila

2015-03-01

Response to hydroxyurea therapy in homozygous or compound heterozygous beta thalassaemia (BT) has been reported as more favourable in the presence of XmnI polymorphism. The prevalence of XmnI polymorphism may vary with BT phenotypes and genotypes, and differs geographically in distribution. Prevalence of XmnI polymorphism is not known in northern Pakistan. To determine the frequency of Gγ-globin promoter -158 (C>T) XmnI polymorphism (XmnI polymorphism) in patients with homozygous or compound heterozygous beta thalassaemia. Polymerase chain reaction (PCR) for common beta thalassaemia mutations and Gγ-globin promoter -158 (C>T) XmnI polymorphism was performed on 107 blood samples of transfusion dependent beta thalassaemia (BT) patients in Pakistan. One hundred samples of unrelated BT traits and 94 samples of healthy subjects as controls were also analysed for BT mutations and XmnI polymorphism. Out of 301 DNA samples, XmnI polymorphism was detected in 71(24%); in normal controls, XmnI polymorphism was detected in 34/94 (36%) subjects; while in homozygous/compound heterozygous BT, it was detected in 14/107(13%) patients (Fisher's exact test, p=.0002). In heterozygous BT group, XmnI polymorphism was detected in 23/100 subjects (Fisher's exact test, p=.03 with normal controls, and p=.049 with homozygous/compound heterozygous BT). The most common BT genotype was Frame Shift (Fr) 8-9/Fr 8-9, and none of the patients with this genotype had XmnI polymorphism. The second most common genotype was IVSI-5/IVSI-5; 4/26 (15%). Cases with this genotype had XmnI polymorphism. XmnI polymorphism in homozygous/compound heterozygous BT group is 13%. The most common genotype associated with XmnI polymorphism was IVSI-5/IVSI-5. Copyright © 2015 King Faisal Specialist Hospital & Research Centre. Published by Elsevier B.V. All rights reserved.

Generalized allometric regression to estimate biomass of Populus in short-rotation coppice

Energy Technology Data Exchange (ETDEWEB)

Ben Brahim, Mohammed; Gavaland, Andre; Cabanettes, Alain [INRA Centre de Toulouse, Castanet-Tolosane Cedex (France). Unite Agroforesterie et Foret Paysanne

2000-07-01

Data from four different stands were combined to establish a single generalized allometric equation to estimate above-ground biomass of individual Populus trees grown on short-rotation coppice. The generalized model was performed using diameter at breast height, the mean diameter and the mean height of each site as dependent variables and then compared with the stand-specific regressions using F-test. Results showed that this single regression estimates tree biomass well at each stand and does not introduce bias with increasing diameter.

On the irrigation requirements of cottonwood (Populus fremontii and Populus deltoides var. wislizenii) and willow (Salix gooddingii) grown in a desert environment

Science.gov (United States)

Hartwell, S.; Morino, K.; Nagler, P.L.; Glenn, E.P.

2010-01-01

Native tree plots have been established in river irrigation districts in the western U.S. to provide habitat for threatened and endangered birds. Information is needed on the effective irrigation requirements of the target species. Cottonwood (Populus spp.) and willow (Salix gooddingii) trees were grown for seven years in an outdoor plot in a desert environment in Tucson, Arizona. Plants were allowed to achieve a nearly complete canopy cover over the first four years, then were subjected to three daily summer irrigation schedules of 6.20??mm??d-1; 8.26??mm??d-1 and 15.7??mm??d-1. The lowest irrigation rate was sufficient to maintain growth and high leaf area index for cottonwoods over three years, while willows suffered considerable die-back on this rate in years six and seven. These irrigation rates were applied April 15-September 15, but only 0.88??mm??d-1 was applied during the dormant period of the year. Expressed as a fraction of reference crop evapotranspiration (ETo), recommended annual water applications plus precipitation (and including some deep drainage) were 0.83 ETo for cottonwood and 1.01 ETo for willow. Current practices tend to over-irrigate restoration plots, and this study can provide guidelines for more efficient water use. ?? 2010 Elsevier Ltd.

Cytogenetic Analysis of Populus trichocarpa - Ribosomal DNA, Telomere Repeat Sequence, and Marker-selected BACs

Science.gov (United States)

M.N. lslam-Faridi; C.D. Nelson; S.P. DiFazio; L.E. Gunter; G.A. Tuskan

2009-01-01

The 185-285 rDNA and 55 rDNA loci in Populus trichocarpa were localized using fluorescent in situ hybridization (FISH). Two 185-285 rDNA sites and one 55 rDNA site were identified and located at the ends of 3 different chromosomes. FISH signals from the Arabidopsis-type telomere repeat sequence were observed at the distal ends of each chromosome. Six BAC clones...

Inheritance of compartmentalization of wounds in sweetgum (Liquidambar styraciflua L.) and eastern cottonwood (Populus deltoides Bartr.)

Science.gov (United States)

P. W. Garrett; W. K. Randall; A. L. Shigo; W. C. Shortle

1979-01-01

Studies of half-sib progeny tests of sweetgum (Liquidambar styraciflua) and clonal plantings of eastern cottonwood (Populus deltoides) in Mississippi indicate that rate of wound closure and size of discolored columns associated with the wounds are both heritable traits. Both are independent of stem diameter, which was used as a...

Cryopreservation of Populus trichocarpa and Salix using dormant buds with recovery by grafting or direct rooting

Science.gov (United States)

Populus trichocarpa and Salix can be successfully cryopreserved by using dormant scions as the source explants. These scions (either at their original moisture content of 48 to 60% or dried to 30%) were slowly cooled to –35 degree Celsius, transferred to the vapor phase of liquid nitrogen (LNV,-160...

Examination of correlation between histidine and nickel absorption by Morus L., Robinia pseudoacacia L. and Populus nigra L. using HPLC-MS and ICP-MS.

Science.gov (United States)

Ozen, Sukran Akkus; Yaman, Mehmet

2016-08-02

In this study, HPLC-MS and ICP-MS methods were used for the determination of histidine and nickel in Morus L., Robinia pseudoacacia L., and Populus nigra L. leaves taken from industrial areas including Gaziantep and Bursa cities. In the determination of histidine by HPLC-MS, all of the system parameters such as flow rate of mobile phase, fragmentor potential, injection volume and column temperature were optimized and found to be 0.2 mL min(-1), 70 V, 15 µL, and 20°C, respectively. Under the optimum conditions, histidine was extracted from plant sample by distilled water at 90°C for 30 min. Concentrations of histidine as mg kg(-1) were found to be between 2-9 for Morus L., 6-13 for Robinia pseudoacacia L., and 2-10 for Populus nigra L. Concentrations of nickel were in the ranges of 5-10 mg kg(-1) for Morus L., 3-10 mg kg(-1) for Robinia pseudoacacia L., and 0.6-4 mg kg(-1) for Populus nigra L. A significant linear correlation (r = 0.78) between histidine and Ni was observed for Populus nigra L., whereas insignificant linear correlation for Robinia pseudoacacia L. (r = 0.22) were seen. Limits of detection (LOD) and quantitation (LOQ) were found to be 0.025 mg Ni L(-1) and 0.075 mg Ni L(-1), respectively.

The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females.

Science.gov (United States)

Bixler, D; Higgins, M; Hartsfield, J

1984-07-01

This report describes two families with the Nance-Horan syndrome, an X-linked trait featuring lenticular cataracts and anomalies of tooth shape and number. Previous reports have described blindness in affected males but posterior sutural cataracts with normal vision as the primary ocular expression in heterozygous females. In one of these two families, the affected female is not only blind in one eye but reportedly had supernumerary central incisors (mesiodens) removed. This constitutes the most severe ocular and dental expression of this gene in heterozygous females yet reported.

Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières Syndrome

Science.gov (United States)

Rice, Gillian; Newman, William G.; Dean, John; Patrick, Teresa; Parmar, Rekha; Flintoff, Kim; Robins, Peter; Harvey, Scott; Hollis, Thomas; O’Hara, Ann; Herrick, Ariane L.; Bowden, Andrew P.; Perrino, Fred W.; Lindahl, Tomas; Barnes, Deborah E.; Crow, Yanick J.

2007-01-01

TREX1 constitutes the major 3′→5′ DNA exonuclease activity measured in mammalian cells. Recently, biallelic mutations in TREX1 have been shown to cause Aicardi-Goutières syndrome at the AGS1 locus. Interestingly, Aicardi-Goutières syndrome shows overlap with systemic lupus erythematosus at both clinical and pathological levels. Here, we report a heterozygous TREX1 mutation causing familial chilblain lupus. Additionally, we describe a de novo heterozygous mutation, affecting a critical catalytic residue in TREX1, that results in typical Aicardi-Goutières syndrome. PMID:17357087

Developmental and environmental regulation of Aquaporin gene expression across Populus species: divergence or redundancy?

Science.gov (United States)

Cohen, David; Bogeat-Triboulot, Marie-Béatrice; Vialet-Chabrand, Silvère; Merret, Rémy; Courty, Pierre-Emmanuel; Moretti, Sébastien; Bizet, François; Guilliot, Agnès; Hummel, Irène

2013-01-01

Aquaporins (AQPs) are membrane channels belonging to the major intrinsic proteins family and are known for their ability to facilitate water movement. While in Populus trichocarpa, AQP proteins form a large family encompassing fifty-five genes, most of the experimental work focused on a few genes or subfamilies. The current work was undertaken to develop a comprehensive picture of the whole AQP gene family in Populus species by delineating gene expression domain and distinguishing responsiveness to developmental and environmental cues. Since duplication events amplified the poplar AQP family, we addressed the question of expression redundancy between gene duplicates. On these purposes, we carried a meta-analysis of all publicly available Affymetrix experiments. Our in-silico strategy controlled for previously identified biases in cross-species transcriptomics, a necessary step for any comparative transcriptomics based on multispecies design chips. Three poplar AQPs were not supported by any expression data, even in a large collection of situations (abiotic and biotic constraints, temporal oscillations and mutants). The expression of 11 AQPs was never or poorly regulated whatever the wideness of their expression domain and their expression level. Our work highlighted that PtTIP1;4 was the most responsive gene of the AQP family. A high functional divergence between gene duplicates was detected across species and in response to tested cues, except for the root-expressed PtTIP2;3/PtTIP2;4 pair exhibiting 80% convergent responses. Our meta-analysis assessed key features of aquaporin expression which had remained hidden in single experiments, such as expression wideness, response specificity and genotype and environment interactions. By consolidating expression profiles using independent experimental series, we showed that the large expansion of AQP family in poplar was accompanied with a strong divergence of gene expression, even if some cases of functional redundancy

Developmental and environmental regulation of Aquaporin gene expression across Populus species: divergence or redundancy?

Directory of Open Access Journals (Sweden)

David Cohen

Full Text Available Aquaporins (AQPs are membrane channels belonging to the major intrinsic proteins family and are known for their ability to facilitate water movement. While in Populus trichocarpa, AQP proteins form a large family encompassing fifty-five genes, most of the experimental work focused on a few genes or subfamilies. The current work was undertaken to develop a comprehensive picture of the whole AQP gene family in Populus species by delineating gene expression domain and distinguishing responsiveness to developmental and environmental cues. Since duplication events amplified the poplar AQP family, we addressed the question of expression redundancy between gene duplicates. On these purposes, we carried a meta-analysis of all publicly available Affymetrix experiments. Our in-silico strategy controlled for previously identified biases in cross-species transcriptomics, a necessary step for any comparative transcriptomics based on multispecies design chips. Three poplar AQPs were not supported by any expression data, even in a large collection of situations (abiotic and biotic constraints, temporal oscillations and mutants. The expression of 11 AQPs was never or poorly regulated whatever the wideness of their expression domain and their expression level. Our work highlighted that PtTIP1;4 was the most responsive gene of the AQP family. A high functional divergence between gene duplicates was detected across species and in response to tested cues, except for the root-expressed PtTIP2;3/PtTIP2;4 pair exhibiting 80% convergent responses. Our meta-analysis assessed key features of aquaporin expression which had remained hidden in single experiments, such as expression wideness, response specificity and genotype and environment interactions. By consolidating expression profiles using independent experimental series, we showed that the large expansion of AQP family in poplar was accompanied with a strong divergence of gene expression, even if some cases of

Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X.

Science.gov (United States)

Song, Y; Zhao, D; Xu, X; Lv, F; Li, L; Jiang, Y; Wang, O; Xia, W; Xing, X; Li, M

2018-03-09

We identified novel compound heterozygous mutations in SERPINH1 in a Chinese boy suffering from recurrent fractures, femoral deformities, and growth retardation, which resulted in extremely rare autosomal recessive OI type X. Long-term treatment of BPs was effective in increasing BMD Z-score, reducing fracture incidence and reshaping vertebrae compression. Osteogenesis imperfecta (OI) is a heritable bone disorder characterized by low bone mineral density, recurrent fractures, and progressive bone deformities. Mutation in serpin peptidase inhibitor clade H, member 1 (SERPINH1), which encodes heat shock protein 47 (HSP47), leads to rare autosomal recessive OI type X. We aimed to detect the phenotype and the pathogenic mutation of OI type X in a boy from a non-consanguineous Chinese family. We investigated the pathogenic mutations and analyzed their relationship with the phenotype in the patient using next-generation sequencing (NGS) and Sanger sequencing. Moreover, the efficacy of long-term bisphosphonate treatment in this patient was evaluated. The patient suffered from multiple fractures, low bone mass, and bone deformities in the femur, without dentinogenesis imperfecta or hearing loss. Compound heterozygous variants were found in SERPINH1 as follows: c.149 T>G in exon 2 and c.1214G>A in exon 5. His parents were heterozygous carriers of each of these mutations, respectively. Bisphosphonates could be helpful in increasing BMD Z-score, reducing bone fracture risk and reshaping the compressed vertebral bodies of this patient. We reported novel compound heterozygous mutations in SERPINH1 in a Chinese OI patient for the first time, which expanded the spectrum of phenotype and genotype of extremely rare OI type X.

Physical mapping in highly heterozygous genomes: a physical contig map of the Pinot Noir grapevine cultivar

Directory of Open Access Journals (Sweden)

Jurman Irena

2010-03-01

Full Text Available Abstract Background Most of the grapevine (Vitis vinifera L. cultivars grown today are those selected centuries ago, even though grapevine is one of the most important fruit crops in the world. Grapevine has therefore not benefited from the advances in modern plant breeding nor more recently from those in molecular genetics and genomics: genes controlling important agronomic traits are practically unknown. A physical map is essential to positionally clone such genes and instrumental in a genome sequencing project. Results We report on the first whole genome physical map of grapevine built using high information content fingerprinting of 49,104 BAC clones from the cultivar Pinot Noir. Pinot Noir, as most grape varieties, is highly heterozygous at the sequence level. This resulted in the two allelic haplotypes sometimes assembling into separate contigs that had to be accommodated in the map framework or in local expansions of contig maps. We performed computer simulations to assess the effects of increasing levels of sequence heterozygosity on BAC fingerprint assembly and showed that the experimental assembly results are in full agreement with the theoretical expectations, given the heterozygosity levels reported for grape. The map is anchored to a dense linkage map consisting of 994 markers. 436 contigs are anchored to the genetic map, covering 342 of the 475 Mb that make up the grape haploid genome. Conclusions We have developed a resource that makes it possible to access the grapevine genome, opening the way to a new era both in grape genetics and breeding and in wine making. The effects of heterozygosity on the assembly have been analyzed and characterized by using several complementary approaches which could be easily transferred to the study of other genomes which present the same features.

Phytoextraction potential of poplar (Populus alba L. var. pyramidalis Bunge) from calcareous agricultural soils contaminated by cadmium.

Science.gov (United States)

Hu, Yahu; Nan, Zhongren; Jin, Cheng; Wang, Ning; Luo, Huanzhang

2014-01-01

To investigate the phytoextraction potential of Populus alba L. var. pyramidalis Bunge for cadmium (Cd) contaminated calcareous soils, a concentration gradient experiment and a field sampling experiment (involving poplars of different ages) were conducted. The translocation factors for all experiments and treatments were greater than 1. The bioconcentration factor decreased from 2.37 to 0.25 with increasing soil Cd concentration in the concentration gradient experiment and generally decreased with stand age under field conditions. The Cd concentrations in P. pyramidalis organs decreased in the order of leaves > stems > roots. The shoot biomass production in the concentration gradient experiment was not significantly reduced with soil Cd concentrations up to or slightly over 50 mg kg(-1). The results show that the phytoextraction efficiency of P. pyramidalis depends on both the soil Cd concentration and the tree age. Populus pyramidalis is most suitable for remediation of slightly Cd contaminated calcareous soils through the combined harvest of stems and leaves under actual field conditions.

Altered social cognition in male BDNF heterozygous mice and following chronic methamphetamine exposure.

Science.gov (United States)

Manning, Elizabeth E; van den Buuse, Maarten

2016-05-15

Growing clinical evidence suggests that persistent psychosis which occurs in methamphetamine users is closely related to schizophrenia. However, preclinical studies in animal models have focussed on psychosis-related behaviours following methamphetamine, and less work has been done to assess endophenotypes relevant to other deficits observed in schizophrenia. Altered social behaviour is a feature of both the negative symptoms and cognitive deficits in schizophrenia, and significantly impacts patient functioning. We recently found that brain-derived neurotrophic factor (BDNF) heterozygous mice show disrupted sensitization to methamphetamine, supporting other work suggesting an important role of this neurotrophin in the pathophysiology of psychosis and the neuronal response to stimulant drugs. In the current study, we assessed social and cognitive behaviours in methamphetamine-treated BDNF heterozygous mice and wildtype littermate controls. Following chronic methamphetamine exposure male wildtype mice showed a 50% reduction in social novelty preference. Vehicle-treated male BDNF heterozygous mice showed a similar impairment in social novelty preference, with a trend for no further disruption by methamphetamine exposure. Female mice were unaffected in this task, and no groups showed any changes in sociability or short-term spatial memory. These findings suggest that chronic methamphetamine alters behaviour relevant to disruption of social cognition in schizophrenia, supporting other studies which demonstrate a close resemblance between persistent methamphetamine psychosis and schizophrenia. Together these findings suggest that dynamic regulation of BDNF signalling is necessary to mediate the effects of methamphetamine on behaviours relevant to schizophrenia. Copyright © 2016 Elsevier B.V. All rights reserved.

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.

Science.gov (United States)

Patel, Kashyap A; Kettunen, Jarno; Laakso, Markku; Stančáková, Alena; Laver, Thomas W; Colclough, Kevin; Johnson, Matthew B; Abramowicz, Marc; Groop, Leif; Miettinen, Päivi J; Shepherd, Maggie H; Flanagan, Sarah E; Ellard, Sian; Inagaki, Nobuya; Hattersley, Andrew T; Tuomi, Tiinamaija; Cnop, Miriam; Weedon, Michael N

2017-10-12

Finding new causes of monogenic diabetes helps understand glycaemic regulation in humans. To find novel genetic causes of maturity-onset diabetes of the young (MODY), we sequenced MODY cases with unknown aetiology and compared variant frequencies to large public databases. From 36 European patients, we identify two probands with novel RFX6 heterozygous nonsense variants. RFX6 protein truncating variants are enriched in the MODY discovery cohort compared to the European control population within ExAC (odds ratio = 131, P = 1 × 10 -4 ). We find similar results in non-Finnish European (n = 348, odds ratio = 43, P = 5 × 10 -5 ) and Finnish (n = 80, odds ratio = 22, P = 1 × 10 -6 ) replication cohorts. RFX6 heterozygotes have reduced penetrance of diabetes compared to common HNF1A and HNF4A-MODY mutations (27, 70 and 55% at 25 years of age, respectively). The hyperglycaemia results from beta-cell dysfunction and is associated with lower fasting and stimulated gastric inhibitory polypeptide (GIP) levels. Our study demonstrates that heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.Maturity-onset diabetes of the young (MODY) is the most common subtype of familial diabetes. Here, Patel et al. use targeted DNA sequencing of MODY patients and large-scale publically available data to show that RFX6 heterozygous protein truncating variants cause reduced penetrance MODY.

Rapid production of trees. [Acer platanoides, Fraxinus excelsior, Quercus robus, Sorbus, Picea, and Abies spp. , Betula verrucose, Populus trichocarpa

Energy Technology Data Exchange (ETDEWEB)

Haarjorg, A.

1976-01-01

Seedlings of Acer platanoides approximately 2 m tall were produced in southern Norway in one year by seed stratification indoors. Similar results were obtained with Fraxinus excelsior, Quercus robus and Sorbus spp. Trails were also carried out with Betula verrucose (B. pendula), Populus trichocarpa, Picea spp., Abies spp., and other conifers. In all trials growth was increased when plants were raised in a plastic house, and depended on the time that Spring growth was started or whether supplementary light was given and also depended on the seed strain. For northern and high altitude strains it was important to maintain critical day length.

Age-Dependent Deficits in Fear Learning in Heterozygous BDNF Knock-Out Mice

Science.gov (United States)

Endres, Thomas; Lessmann, Volkmar

2012-01-01

Beyond its trophic function, the neurotrophin BDNF (brain-derived neurotrophic factor) is well known to crucially mediate synaptic plasticity and memory formation. Whereas recent studies suggested that acute BDNF/TrkB signaling regulates amygdala-dependent fear learning, no impairments of cued fear learning were reported in heterozygous BDNF…

Atm heterozygous mice are more sensitive to radiation-induced cataracts than are their wild-type counterparts

Science.gov (United States)

Worgul, Basil V.; Smilenov, Lubomir; Brenner, David J.; Junk, Anna; Zhou, Wei; Hall, Eric J.

2002-01-01

It is important to know whether the human population includes genetically predisposed radiosensitive subsets. In vitro studies have shown that cells from individuals homozygous for ataxia telangiectasia (A-T) are much more radiosensitive than cells from unaffected individuals. Although cells heterozygous for the ATM gene (ATM(+/-)) may be slightly more radiosensitive in vitro, it remained to be determined whether the greater susceptibility of ATM(+/-) cells translates into an increased sensitivity for late effects in vivo, though there is a suggestion that radiotherapy patients that are heterozygous for the ATM gene may be more at risk of developing late normal tissue damage. We chose cataractogenesis in the lens as a means to assay for the effects of ATM deficiency in a late-responding tissue. One eye of wild-type, Atm heterozygous and homozygous knockout mice was exposed to 0.5-, 1.0-, 2.0-, or 4.0-Gy x rays. The animals were followed weekly for cataract development by conventional slit-lamp biomicroscopy. Cataract development in the animals of all three groups was strongly dependent on dose. The lenses of homozygous mice were the first to opacify at any given dose. Most important in the present context is that cataracts appeared earlier in the heterozygous versus wild-type animals. The data suggest that ATM heterozygotes in the human population may also be radiosensitive. This may influence the choice of individuals destined to be exposed to higher than normal doses of radiation, such as astronauts, and may also suggest that radiotherapy patients who are ATM heterozygotes could be predisposed to increased late normal tissue damage.

Macro- and micro-nutrient concentration in leaf, woody, and root tissue of Populus irrigated with landfill leachate

Science.gov (United States)

Jill A. Zalesny; Ronald S., Jr. Zalesny; Adam H. Wiese; Bart T. Sexton; Richard B. Hall

2007-01-01

Landfill leachate offers an opportunity to supply water and plant nutritional benefits at a lower cost than traditional sources. Information about nutrient uptake and distribution into tissues of Populus irrigated with landfill leachate helps increase biomass production along with evaluating the impacts of leachate chemistry on tree health.

Heterozygous Che-1 KO mice show deficiencies in object recognition memory persistence.

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Zalcman, Gisela; Corbi, Nicoletta; Di Certo, Maria Grazia; Mattei, Elisabetta; Federman, Noel; Romano, Arturo

2016-10-06

Transcriptional regulation is a key process in the formation of long-term memories. Che-1 is a protein involved in the regulation of gene transcription that has recently been proved to bind the transcription factor NF-κB, which is known to be involved in many memory-related molecular events. This evidence prompted us to investigate the putative role of Che-1 in memory processes. For this study we newly generated a line of Che-1(+/-) heterozygous mice. Che-1 homozygous KO mouse is lethal during development, but Che-1(+/-) heterozygous mouse is normal in its general anatomical and physiological characteristics. We analyzed the behavioral characteristic and memory performance of Che-1(+/-) mice in two NF-κB dependent types of memory. We found that Che-1(+/-) mice show similar locomotor activity and thigmotactic behavior than wild type (WT) mice in an open field. In a similar way, no differences were found in anxiety-like behavior between Che-1(+/-) and WT mice in an elevated plus maze as well as in fear response in a contextual fear conditioning (CFC) and object exploration in a novel object recognition (NOR) task. No differences were found between WT and Che-1(+/-) mice performance in CFC training and when tested at 24h or 7days after training. Similar performance was found between groups in NOR task, both in training and 24h testing performance. However, we found that object recognition memory persistence at 7days was impaired in Che-1(+/-) heterozygous mice. This is the first evidence showing that Che-1 is involved in memory processes. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

NARCIS (Netherlands)

Toubiana, Julie; Okada, Satoshi; Hiller, Julia; Oleastro, Matias; Lagos Gomez, Macarena; Aldave Becerra, Juan Carlos; Ouachée-Chardin, Marie; Fouyssac, Fanny; Girisha, Katta Mohan; Etzioni, Amos; van Montfrans, Joris M.; Camcioglu, Yildiz; Kerns, Leigh Ann; Belohradsky, Bernd; Blanche, Stéphane; Bousfiha, Aziz; Rodriguez-Gallego, Carlos; Meyts, Isabelle; Kisand, Kai; Reichenbach, Janine; Renner, Ellen D; Rosenzweig, Sergio; Grimbacher, Bodo; van de Veerdonk, Frank L; Traidl-Hoffmann, Claudia; Picard, Capucine; Marodi, Laszlo; Morio, Tomohiro; Kobayashi, Masao; Lilic, Desa; Milner, Joshua D; Holland, Steven; Casanova, Jean-Laurent; Puel, Anne

2016-01-01

Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have increasingly been identified worldwide. The clinical spectrum associated with them needed to be delineated. We enrolled 274

Geochemical peculiarities of black poplar leaves (Populus nigra L.) in the sites with heavy metals intensive fallouts

Science.gov (United States)

Yalaltdinova, Albina; Baranovskaya, Natalya; Rikhvanov, Leonid; Matveenko, Irina

2013-04-01

The article deals with the content of 28 chemical elements in the leaves ash of black poplar (Populus nigra L.) growing in Ust-Kamenogorsk city area. It is the major industrial center of Kazakhstan Republic on the territory where the industrial giants of non-ferrous metallurgy and nuclear energy are situated. Comparative analysis with the similar data obtained from leaves ash of Populus nigra L. in Tomsk, Ekibastuz, and Pavlodar cities has revealed that in comparison with other urban areas, leaves ash of black poplar (Populus nigra L.) from Ust-Kamenogorsk city is characterized by elevated concentration rates of Ta, U, Zn, Ag, As, Sb, Br, Sr and Na. Within the city, the sites and areas with abnormal contents of typomorphic pollutants have been revealed. In the central part of the city, in the vicinity of lead-zinc plant and Ulba metallurgical plant, the highest concentrations of Ta, U, Zn, Ag, Au, As, Sb, Cr and Fe were marked. In the northeast, where the titanium-magnesium plant is located, elevated concentrations of Br and Sr were stated. Thus, the impact of major city enterprises which are the main sources of heavy metals is reflected in the element composition. Zn, As, Sb, Ag and Au comes from lead-zinc plant and its refinery plants, while Ulba metallurgical plant can be considered source of Ta and U in the environment, producing tantalum and fuel pellets for nuclear power plants. These companies, due to the current objective circumstances, are located in the central part of the city, have a significant negative effect on the environment and form the risk factors for human health.

Effects of hybridization and evolutionary constraints on secondary metabolites: the genetic architecture of phenylpropanoids in European populus species.

Science.gov (United States)

Caseys, Celine; Stritt, Christoph; Glauser, Gaetan; Blanchard, Thierry; Lexer, Christian

2015-01-01

The mechanisms responsible for the origin, maintenance and evolution of plant secondary metabolite diversity remain largely unknown. Decades of phenotypic studies suggest hybridization as a key player in generating chemical diversity in plants. Knowledge of the genetic architecture and selective constraints of phytochemical traits is key to understanding the effects of hybridization on plant chemical diversity and ecological interactions. Using the European Populus species P. alba (White poplar) and P. tremula (European aspen) and their hybrids as a model, we examined levels of inter- and intraspecific variation, heritabilities, phenotypic correlations, and the genetic architecture of 38 compounds of the phenylpropanoid pathway measured by liquid chromatography and mass spectrometry (UHPLC-MS). We detected 41 quantitative trait loci (QTL) for chlorogenic acids, salicinoids and flavonoids by genetic mapping in natural hybrid crosses. We show that these three branches of the phenylpropanoid pathway exhibit different geographic patterns of variation, heritabilities, and genetic architectures, and that they are affected differently by hybridization and evolutionary constraints. Flavonoid abundances present high species specificity, clear geographic structure, and strong genetic determination, contrary to salicinoids and chlorogenic acids. Salicinoids, which represent important defence compounds in Salicaceae, exhibited pronounced genetic correlations on the QTL map. Our results suggest that interspecific phytochemical differentiation is concentrated in downstream sections of the phenylpropanoid pathway. In particular, our data point to glycosyltransferase enzymes as likely targets of rapid evolution and interspecific differentiation in the 'model forest tree' Populus.

Effects of hybridization and evolutionary constraints on secondary metabolites: the genetic architecture of phenylpropanoids in European populus species.

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Celine Caseys

Full Text Available The mechanisms responsible for the origin, maintenance and evolution of plant secondary metabolite diversity remain largely unknown. Decades of phenotypic studies suggest hybridization as a key player in generating chemical diversity in plants. Knowledge of the genetic architecture and selective constraints of phytochemical traits is key to understanding the effects of hybridization on plant chemical diversity and ecological interactions. Using the European Populus species P. alba (White poplar and P. tremula (European aspen and their hybrids as a model, we examined levels of inter- and intraspecific variation, heritabilities, phenotypic correlations, and the genetic architecture of 38 compounds of the phenylpropanoid pathway measured by liquid chromatography and mass spectrometry (UHPLC-MS. We detected 41 quantitative trait loci (QTL for chlorogenic acids, salicinoids and flavonoids by genetic mapping in natural hybrid crosses. We show that these three branches of the phenylpropanoid pathway exhibit different geographic patterns of variation, heritabilities, and genetic architectures, and that they are affected differently by hybridization and evolutionary constraints. Flavonoid abundances present high species specificity, clear geographic structure, and strong genetic determination, contrary to salicinoids and chlorogenic acids. Salicinoids, which represent important defence compounds in Salicaceae, exhibited pronounced genetic correlations on the QTL map. Our results suggest that interspecific phytochemical differentiation is concentrated in downstream sections of the phenylpropanoid pathway. In particular, our data point to glycosyltransferase enzymes as likely targets of rapid evolution and interspecific differentiation in the 'model forest tree' Populus.

Exploiting the transcriptome of Euphrates Poplar, Populus euphratica (Salicaceae to develop and characterize new EST-SSR markers and construct an EST-SSR database.

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Fang K Du

Full Text Available BACKGROUND: Microsatellite markers or Simple Sequence Repeats (SSRs are the most popular markers in population/conservation genetics. However, the development of novel microsatellite markers has been impeded by high costs, a lack of available sequence data and technical difficulties. New species-specific microsatellite markers were required to investigate the evolutionary history of the Euphratica tree, Populus euphratica, the only tree species found in the desert regions of Western China and adjacent Central Asian countries. METHODOLOGY/PRINCIPAL FINDINGS: A total of 94,090 non-redundant Expressed Sequence Tags (ESTs from P. euphratica comprising around 63 Mb of sequence data were searched for SSRs. 4,202 SSRs were found in 3,839 ESTs, with 311 ESTs containing multiple SSRs. The most common motif types were trinucleotides (37% and hexanucleotides (33% repeats. We developed primer pairs for all of the identified EST-SSRs (eSSRs and selected 673 of these pairs at random for further validation. 575 pairs (85% gave successful amplification, of which, 464 (80.7% were polymorphic in six to 24 individuals from natural populations across Northern China. We also tested the transferability of the polymorphic eSSRs to nine other Populus species. In addition, to facilitate the use of these new eSSR markers by other researchers, we mapped them onto Populus trichocarpa scaffolds in silico and compiled our data into a web-based database (http://202.205.131.253:8080/poplar/resources/static_page/index.html. CONCLUSIONS: The large set of validated eSSRs identified in this work will have many potential applications in studies on P. euphratica and other poplar species, in fields such as population genetics, comparative genomics, linkage mapping, QTL, and marker-assisted breeding. Their use will be facilitated by their incorporation into a user-friendly web-based database.

Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA2 Levels on Capillary Electrophoresis.

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Panyasai, Sitthichai; Sakkhachornphop, Supachai; Pornprasert, Sakorn

2018-01-01

A misdiagnosis of β-thalassemia carrier in samples with Hb Tak and HbD-Punjab, the β-variants, can be a cause of inappropriate genetic counseling thus having a new case of β-thalassemia major. A capillary electrophoresis (CE) is very efficient in separating and quantifying HbA 2 . In this study, HbA 2 levels of samples which were doubted for compound heterozygous Hb Tak/β-thalassemia or heterozygous HbD-Punjab/β-thalassemia were measured and compared between CE and high performance liquid chromatography (HPLC). The molecular confirmation for Hb Tak, HbD-Punjab and β-thalassemia codons 17 (A > T), 41/42 (-TCTT), 71/72 (+A) and IVSI-nt1 (G > T) mutations and 3.4 kb deletion were also performed. Based on DNA analysis, 3 cases were diagnosed as compound heterozygous Hb Tak/β-thalassemia and one for HbD-Punjab/β-thalassemia. The elevated HbA 2 levels were found in all 4 samples with rages of 4.6-7.3% on CE while those were not found on HPLC. Thus, the elevated HbA 2 measured by CE can be used as a screening parameter for differentiating the homozygote of Hb Tak and HbD-Punjab from the compound heterozygote of these hemoglobinopathies and β-thalassemia.

Increased leaf area dominates carbon flux response to elevated CO2 in stands of Populus deltoides (Bartr.)

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Ramesh Murthy; Greg Barron-Gafford; Philip M. Dougherty; Victor c. Engels; Katie Grieve; Linda Handley; Christie Klimas; Mark J. Postosnaks; Stanley J. Zarnoch; Jianwei Zhang

2005-01-01

We examined the effects of atmospheric vapor pressure deficit (VPD) and soil moisture stress (SMS) on leaf- and stand-level CO2 exchange in model 3-year-old coppiced cottonwood (Populus deltoides Bartr.) plantations using the large-scale, controlled environments of the Biosphere 2 Laboratory. A short-term experiment was imposed...

Comparative physiological and proteomic analyses of poplar (Populus yunnanensis plantlets exposed to high temperature and drought.

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Xiong Li

Full Text Available Plantlets of Populus yunnanensis Dode were examined in a greenhouse for 48 h to analyze their physiological and proteomic responses to sustained heat, drought, and combined heat and drought. Compared with the application of a single stress, simultaneous treatment with both stresses damaged the plantlets more heavily. The plantlets experienced two apparent response stages under sustained heat and drought. During the first stage, malondialdehyde and reactive oxygen species (ROS contents were induced by heat, but many protective substances, including antioxidant enzymes, proline, abscisic acid (ABA, dehydrin, and small heat shock proteins (sHSPs, were also stimulated. The plants thus actively defended themselves against stress and exhibited few pathological morphological features, most likely because a new cellular homeostasis was established through the collaborative operation of physiological and proteomic responses. During the second stage, ROS homeostasis was overwhelmed by substantial ROS production and a sharp decline in antioxidant enzyme activities, while the synthesis of some protective elements, such as proline and ABA, was suppressed. As a result, photosynthetic levels in P. yunnanensis decreased sharply and buds began to die, despite continued accumulation of sHSPs and dehydrin. This study supplies important information about the effects of extreme abiotic environments on woody plants.

Disruption of NBS1 gene leads to early embryonic lethality in homozygous null mice and induces specific cancer in heterozygous mice

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Kurimasa, Akihiro; Burma, Sandeep; Henrie, Melinda; Ouyang, Honghai; Osaki, Mitsuhiko; Ito, Hisao; Nagasawa, Hatsumi; Little, John B.; Oshimura, Mitsuo; Li, Gloria C.; Chen, David J.

2002-04-15

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive chromosome instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition, with cellular features similar to that of ataxia telangiectasia (AT). NBS results from mutations in the mammalian gene Nbs1 that codes for a 95-kDa protein called nibrin, NBS1, or p95. To establish an animal model for NBS, we attempted to generate NBS1 knockout mice. However, NBS1 gene knockouts were lethal at an early embryonic stage. NBS1 homozygous(-/-) blastocyst cells cultured in vitro showed retarded growth and subsequently underwent growth arrest within 5 days of culture. Apoptosis, assayed by TUNEL staining, was observed in NBSI homozygous(-/-) blastocyst cells cultured for four days. NBSI heterozygous(+/-) mice were normal, and exhibited no specific phenotype for at least one year. However, fibroblast cells from NBSI heterozygous(+/-) mice displayed an enhanced frequency of spontaneous transformation to anchorage-independent growth as compared to NBS1 wild-type(+/+) cells. Furthermore, heterozygous(+/-) mice exhibited a high incidence of hepatocellular carcinoma after one year compared to wild-type mice, even though no significant differences in the incidence of other tumors such as lung adenocarcinoma and lymphoma were observed. Taken together, these results strongly suggest that NBS1 heterozygosity and reduced NBSI expression induces formation of specific tumors in mice.

IAA oxidase activity in relation to adventitious root formation on stem cuttings of some forest tree species. [Salix tetrasperma, Populus Robusta, Hibiscus rosa-sinensis, Eucalyptus citriodora

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Bansal, M.P.; Nanda, K.K.

1981-01-01

In rooting tests with stem cuttings, IAA oxidase activity was found to be very high in Salix tetrasperma and Populus 'Robusta' both of which rooted profusely, less in Hibiscus rosa-sinensis which rooted but weakly and insignificant in Eucalyptus citriodora, which did not root at all. Proteins extracted from the stem cuttings of E. citriodora inhibited IAA oxidase activity, and also root formation on hypocotyl cuttings of Phaseolus mungo.

Genotyping-by-sequencing for Populus population genomics: an assessment of genome sampling patterns and filtering approaches.

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Martin P Schilling

Full Text Available Continuing advances in nucleotide sequencing technology are inspiring a suite of genomic approaches in studies of natural populations. Researchers are faced with data management and analytical scales that are increasing by orders of magnitude. With such dramatic advances comes a need to understand biases and error rates, which can be propagated and magnified in large-scale data acquisition and processing. Here we assess genomic sampling biases and the effects of various population-level data filtering strategies in a genotyping-by-sequencing (GBS protocol. We focus on data from two species of Populus, because this genus has a relatively small genome and is emerging as a target for population genomic studies. We estimate the proportions and patterns of genomic sampling by examining the Populus trichocarpa genome (Nisqually-1, and demonstrate a pronounced bias towards coding regions when using the methylation-sensitive ApeKI restriction enzyme in this species. Using population-level data from a closely related species (P. tremuloides, we also investigate various approaches for filtering GBS data to retain high-depth, informative SNPs that can be used for population genetic analyses. We find a data filter that includes the designation of ambiguous alleles resulted in metrics of population structure and Hardy-Weinberg equilibrium that were most consistent with previous studies of the same populations based on other genetic markers. Analyses of the filtered data (27,910 SNPs also resulted in patterns of heterozygosity and population structure similar to a previous study using microsatellites. Our application demonstrates that technically and analytically simple approaches can readily be developed for population genomics of natural populations.

Abnormal meiosis in an intersectional allotriploid of Populus L. and segregation of ploidy levels in 2x × 3x progeny.

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Jun Wang

Full Text Available Triploid plants are usually highly aborted owing to unbalanced meiotic chromosome segregation, but limited viable gametes can participate in the transition to different ploidy levels. In this study, numerous meiotic abnormalities were found with high frequency in an intersectional allotriploid poplar (Populus alba × P. berolinensis 'Yinzhong', including univalents, precocious chromosome migration, lagging chromosomes, chromosome bridges, micronuclei, and precocious cytokinesis, indicating high genetic imbalance in this allotriploid. Some micronuclei trigger mini-spindle formation in metaphase II and participate in cytokinesis to form polyads with microcytes. Unbalanced chromosome segregation and chromosome elimination resulted in the formation of microspores with aneuploid chromosome sets. Fusion of sister nuclei occurs in microsporocytes with precocious cytokinesis, which could form second meiotic division restitution (SDR-type gametes. However, SDR-type gametes likely contain incomplete chromosome sets due to unbalanced segregation of homologous chromosomes during the first meiotic division in triploids. Misorientation of spindles during the second meiotic division, such as fused and tripolar spindles with low frequency, could result in the formation of first meiotic division restitution (FDR-type unreduced gametes, which most likely contain three complete chromosome sets. Although 'Yinzhong' yields 88.7% stainable pollen grains with wide diameter variation from 23.9 to 61.3 μm, the pollen viability is poor (2.78% ± 0.38. A cross of 'Yinzhong' pollen with a diploid female clone produced progeny with extensive segregation of ploidy levels, including 29 diploids, 18 triploids, 4 tetraploids, and 48 aneuploids, suggesting the formation of viable aneuploidy and unreduced pollen in 'Yinzhong'. Individuals with different chromosome compositions are potential to analyze chromosomal function and to integrate the chromosomal dosage variation into

Date of shoot collection, genotype, and original shoot position affect early rooting of dormant hardwood cuttings of Populus

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R. S., Jr. Zalesny; A.H. Wiese

2006-01-01

Identifying superior combinations among date of dormant- season shoot collection, genotype, and original shoot position can increase the rooting potential of Populus cuttings. Thus, the objectives of our study were to: 1) evaluate variation among clones in early rooting from hardwood cuttings processed every three weeks from shoots collected...

Near-ambient ozone concentrations reduce the vigor of Betula and Populus species in Finland.

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Oksanen, Elina; Manninen, Sirkku; Vapaavuori, Elina; Holopainen, Toini

2009-12-01

In this review the main growth responses of Finnish birch (Betula pendula, B. pubescens) and aspen species (Populus tremula and P. tremuloides x P. tremula) are correlated with ozone exposure, indicated as the AOT40 value. Data are derived from 23 different laboratory, open-top chamber, and free-air fumigation experiments. Our results indicate that these tree species are sensitive to increasing ozone concentrations, though high intraspecific variation exists. The roots are the most vulnerable targets in both genera. These growth reductions, determined from trees grown under optimal nutrient and water supply, were generally accompanied by increased visible foliar injuries, carbon allocation toward defensive compounds, reduced carbohydrate contents of leaves, impaired photosynthesis processes, disturbances in stomatal function, and earlier autumn senescence. Because both genera have shown complex ozone defense and response mechanisms, which are modified by variable environmental conditions, a mechanistically based approach is necessary for accurate ozone risk assessment.

Sex-specific responses to winter flooding, spring waterlogging and post-flooding recovery in Populus deltoides

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Ling-Feng Miao; Fan Yang; Chun-Yu Han; Yu-Jin Pu; Yang Ding; Li-Jia Zhang

2017-01-01

Winter flooding events are common in some rivers and streams due to dam constructions, and flooding and waterlogging inhibit the growth of trees in riparian zones. This study investigated sex-specific morphological, physiological and ultrastructural responses to various durations of winter flooding and spring waterlogging stresses, and post-flooding recovery characteristics in Populus deltoides. There were no significant differences in the morphological, ultrastructural and the majority of ph...

Widespread triploidy in Western North American aspen (Populus tremuloides.

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Karen E Mock

Full Text Available We document high rates of triploidy in aspen (Populus tremuloides across the western USA (up to 69% of genets, and ask whether the incidence of triploidy across the species range corresponds with latitude, glacial history (as has been documented in other species, climate, or regional variance in clone size. Using a combination of microsatellite genotyping, flow cytometry, and cytology, we demonstrate that triploidy is highest in unglaciated, drought-prone regions of North America, where the largest clone sizes have been reported for this species. While we cannot completely rule out a low incidence of undetected aneuploidy, tetraploidy or duplicated loci, our evidence suggests that these phenomena are unlikely to be significant contributors to our observed patterns. We suggest that the distribution of triploid aspen is due to a positive synergy between triploidy and ecological factors driving clonality. Although triploids are expected to have low fertility, they are hypothesized to be an evolutionary link to sexual tetraploidy. Thus, interactions between clonality and polyploidy may be a broadly important component of geographic speciation patterns in perennial plants. Further, cytotypes are expected to show physiological and structural differences which may influence susceptibility to ecological factors such as drought, and we suggest that cytotype may be a significant and previously overlooked factor in recent patterns of high aspen mortality in the southwestern portion of the species range. Finally, triploidy should be carefully considered as a source of variance in genomic and ecological studies of aspen, particularly in western U.S. landscapes.

Effects of light regime and IBA concentration on adventitious rooting of an eastern cottonwood (Populus deltoides) clone

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Alexander P. Hoffman; Joshua P. Adams; Andrew Nelson

2016-01-01

Eastern cottonwood (Populus deltoides) has received a substantial amount of interest from invitro studies within the past decade. The ability to efficiently multiply the stock of established clones such as clone 110412 is a valuable asset for forest endeavors. However, a common problem encountered is initiating adventitious rooting in new micropropagation protocols....

Ex situ growth and biomass of Populus bioenergy crops irrigated and fertilized with landfill leachate

International Nuclear Information System (INIS)

Zalesny, Ronald S.; Wiese, Adam H.; Bauer, Edmund O.; Riemenschneider, Donald E.

2009-01-01

Merging traditional intensive forestry with waste management offers dual goals of fiber and bioenergy production, along with environmental benefits such as soil/water remediation and carbon sequestration. As part of an ongoing effort to acquire data about initial genotypic performance, we evaluated: (1) the early aboveground growth of trees belonging to currently utilized Populus genotypes subjected to irrigation with municipal solid waste landfill leachate or non-fertilized well water (control), and (2) the above- and below-ground biomass of the trees after 70 days of growth. We determined height, diameter, and number of leaves at 28, 42, 56, and 70 days after planting (DAP), along with stem, leaf, and root dry mass by testing six Populus clones (DN34, DN5, I4551, NC14104, NM2, NM6) grown in a greenhouse in a split-split plot, repeated measures design with two blocks, two treatments (whole-plots), six clones (sub-plots), and four sampling dates (sub-sub-plots, repeated measure). Treatments (leachate, water) were applied every other day beginning 42 DAP. The leachate-treated trees exhibited greater height, diameter, and number of leaves at 56 and 70 DAP (P 0.05). Overall, genotypic responses to the leachate treatment were clone-specific for all traits

Boron accumulation and toxicity in hybrid poplar (Populus nigra × euramericana).

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Rees, Rainer; Robinson, Brett H; Menon, Manoj; Lehmann, Eberhard; Günthardt-Goerg, Madeleine S; Schulin, Rainer

2011-12-15

Poplars accumulate high B concentrations and are thus used for the phytomanagement of B contaminated soils. Here, we performed pot experiments in which Populus nigra × euramericana were grown on a substrate with B concentrations ranging from 13 to 280 mg kg(-1) as H(3)BO(3). Salix viminalis, Brassica juncea, and Lupinus albus were grown under some growing conditions for comparison. Poplar growth was unaffected at soil B treatment levels up to 93 mg kg(-1). Growth was progressively reduced at levels of 168 and 280 mg kg(-1). None of the other species survived at these substrate B levels. At leaf B concentrations toxicity. Neutron radiography revealed that chlorotic leaf tissues had B concentrations of 1000-2000 mg kg(-1), while necrotic tissues had >2000 mg kg(-1). Average B concentrations of up to 3500 mg kg(-1) were found in leaves, while spots within leaves had concentrations >7000 mg kg(-1), showing that B accumulation in leaf tissue continued even after the onset of necrosis. The B accumulation ability of P. nigra × euramericana is associated with B hypertolerance in the living tissue and storage of B in dead leaf tissue.

Thermo-mechanical Densification of Populus tomentosa var. tomentosa with Low Moisture Content

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Dengyun Tu

2014-05-01

Full Text Available This study used thermo-mechanical densification technology to compress low-moisture content (3~5% rapid-growth Populus tomentosa var. tomentosa trees to produce specimens with a low-compression ratio (small volume loss and a uniform density profile and desirable properties. Furthermore, the densified specimens were subjected to post-heat treatment at 180, 190, and 200 °C for 2, 3, and 4 h, respectively. Microscopic examination was performed to observe the changes that occurred in the wood vessels after densification. To determine the influence of post-heat treatment on the set recovery, the specimens were subjected to eight cycles of soaking and drying in 20 °C water and two cycles in boiling water. The density profile tendencies of the densified specimens were in accord with undensified specimens. Microscopic observation revealed that the deformations present in the densified wood resulted from the viscous buckling of cell walls without fracture. The volume of the void areas in the specimens decreased uniformly. Post-heat treatment can decrease compressive deformation, especially when applied at 200 °C for 4 h. After two boiling water cycles of soaking and drying, the densified wood still had a certain set recovery. Therefore, densified wood should be used sparingly in high temperature and high humidity environments.

The applications of populus fiber in removal of Cr{sup (VI)} from aqueous solution

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Li, Miaomiao; Gong, Yumei, E-mail: ymgong@dlpu.edu.cn; Lyu, Aichao; Liu, Yuanfa, E-mail: morning309@126.com; Zhang, Hong, E-mail: zhang_hong1234@sina.com

2016-10-15

Highlights: • A sorbent for heavy metal ions based on populus fibers is prepared by a green way. • The chromium adsorption on the sorbent accords with the pseudo-second-order kinetics. • The proposed adsorption involves static attraction and chelation by the sorbent on chromium. • The sorbent is expected to be applied in universal conditions. - Abstract: The surface modification of natural materials to be applied in removal of Cr{sup (VI)} from aqueous solutions has attracted much attention. A natural sorbent for Cr{sup (VI)} based on natural populus fibers (PF) is prepared by transforming the cyano groups (AN) in polyacrylonitriles (PAN) grafted from PF into amidoxime groups (AO), which has strong ability to attract and chelate heavy metal ions. The prepared sorbent is characterized by Fourier Transform Infrared Spectra (FT-IR), thermogravimetric analysis (TGA), solid-state nuclear magnetic resonance ({sup 13}C NMR) and scanning electron microscope (SEM). As potassium dichromate solution (K{sub 2}Cr{sub 2}O{sub 7}) is used as a target solution for detecting adsorption capacity of the sorbent, the adsorption kinetics of the sorbent for chromiun is consistent with the pseudo-second-order kinetic model by analyzing the adsorption amount as a function of the sorbent dispersed duration in solution at pH = 2. The expected adsorption mechanism is that the Cr{sup (VI)} in anionic ions Cr{sub 2}O{sub 7}{sup 2−} and HCrO{sub 4}{sup −} are adsorbed through electrostatic attraction but when Cr{sup (VI)} is reduced to Cr{sup (III)} by AO, the electronegative nitrogen and oxygen in AO chelate it through coordination bond. The as-prepared PF derivant with high adsorption efficiency of chromium 180.5 mg/g (3.47 mmol/g), low cost, reusability and greenly preparation process suggests that the development of natural PF as a sorbent in removal of Cr{sup (VI)} from aqueous solutions is a destined significant approach.

Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis.

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Okamoto, Nana; Kohmoto, Tomohiro; Naruto, Takuya; Masuda, Kiyoshi; Komori, Takahide; Imoto, Issei

2017-01-01

Osteopetrosis is a heritable disorder of the skeleton that is characterized by increased bone density on radiographs caused by defects in osteoclast formation and function. Mutations in >10 genes are identified as causative for this clinically and genetically heterogeneous disease in humans. We report two novel missense variations in a compound heterozygous state in the CLCN7 gene, detected through targeted exome sequencing, in a 15-year-old Japanese female with intermediate autosomal recessive osteopetrosis.

A high incidence of meiotic silencing of unsynapsed chromatin is not associated with substantial pachytene loss in heterozygous male mice carrying multiple simple robertsonian translocations.

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Marcia Manterola

2009-08-01

Full Text Available Meiosis is a complex type of cell division that involves homologous chromosome pairing, synapsis, recombination, and segregation. When any of these processes is altered, cellular checkpoints arrest meiosis progression and induce cell elimination. Meiotic impairment is particularly frequent in organisms bearing chromosomal translocations. When chromosomal translocations appear in heterozygosis, the chromosomes involved may not correctly complete synapsis, recombination, and/or segregation, thus promoting the activation of checkpoints that lead to the death of the meiocytes. In mammals and other organisms, the unsynapsed chromosomal regions are subject to a process called meiotic silencing of unsynapsed chromatin (MSUC. Different degrees of asynapsis could contribute to disturb the normal loading of MSUC proteins, interfering with autosome and sex chromosome gene expression and triggering a massive pachytene cell death. We report that in mice that are heterozygous for eight multiple simple Robertsonian translocations, most pachytene spermatocytes bear trivalents with unsynapsed regions that incorporate, in a stage-dependent manner, proteins involved in MSUC (e.g., gammaH2AX, ATR, ubiquitinated-H2A, SUMO-1, and XMR. These spermatocytes have a correct MSUC response and are not eliminated during pachytene and most of them proceed into diplotene. However, we found a high incidence of apoptotic spermatocytes at the metaphase stage. These results suggest that in Robertsonian heterozygous mice synapsis defects on most pachytene cells do not trigger a prophase-I checkpoint. Instead, meiotic impairment seems to mainly rely on the action of a checkpoint acting at the metaphase stage. We propose that a low stringency of the pachytene checkpoint could help to increase the chances that spermatocytes with synaptic defects will complete meiotic divisions and differentiate into viable gametes. This scenario, despite a reduction of fertility, allows the spreading

[A clinical and hereditary analysis of novel complex heterozygous KCNJ1 mutation in a Bartter syndrome type Ⅱ patient].

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Li, X Y; Jiang, Y; Xu, L J; Duan, L; Peng, X Y; Chen, L M; Xia, W B; Xing, X P

2017-10-01

Bartter syndrome (BS) is a hereditary condition transmitted as an autosomal recessive (Bartter type 1 to 4) or dominant trait (Bartter type 5). The disease associates hypokalemic alkalosis with varying degrees of hypercalciuria. Here we presented a case (BS type Ⅱ) of a 17 years old female presented with polyhydramnios, polyuria, nephrocalcinosis and hypokalemia, which was alleviated after treatment with celecoxib and vitamin D(3). DNA sequencing identified compound heterozygous KCNJ 1 gene mutations, c. 931C >T (p.R311W) and c. 445-446insCCTGAACAC (p.V149Afs, 150X), with the latter a novel mutation. Her father and mother were heterozygous carriers of c. 931C >T (p.R311W) and c. 445-446insCCTGAACAC (p.V149Afs, 150X), respectively. In conclusion, this case of BS type Ⅱ is caused by a novel compound heterozygous KCNJ 1 mutation. Further studies are needed to verify the effect of celecoxib in BS patients.

Early Events in Populus Hybrid and Fagus sylvatica Leaves Exposed to Ozone

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R. Desotgiu

2010-01-01

Full Text Available This paper aims to investigate early responses to ozone in leaves of Fagus sylvatica (beech and Populus maximowiczii x Populus berolinensis (poplar. The experimental setup consisted of four open-air (OA plots, four charcoal-filtered (CF open-top chambers (OTCs, and four nonfiltered (NF OTCs. Qualitative and quantitative analyses were carried out on nonsymptomatic (CF and symptomatic (NF and OA leaves of both species. Qualitative analyses were performed applying microscopic techniques: Evans blue staining for detection of cell viability, CeCl3 staining of transmission electron microscope (TEM samples to detect the accumulation of H2O2, and multispectral fluorescence microimaging and microspectrofluorometry to investigate the accumulation of fluorescent phenolic compounds in the walls of the damaged cells. Quantitative analyses consisted of the analysis of the chlorophyll a fluorescence transients (fast kinetics. The early responses to ozone were demonstrated by the Evans blue and CeCl3 staining techniques that provided evidence of plant responses in both species 1 month before foliar symptoms became visible. The fluorescence transients analysis, too, demonstrated the breakdown of the oxygen evolving system and the inactivation of the end receptors of electrons at a very early stage, both in poplar and in beech. The accumulation of phenolic compounds in the cell walls, on the other hand, was a species-specific response detected in poplar, but not in beech. Evans blue and CeCl3 staining, as well as the multispectral fluorescence microimaging and microspectrofluorometry, can be used to support the field diagnosis of ozone injury, whereas the fast kinetics of chlorophyll fluorescence provides evidence of early physiological responses.

Primary microcephaly caused by novel compound heterozygous mutations in ASPM.

Science.gov (United States)

Okamoto, Nobuhiko; Kohmoto, Tomohiro; Naruto, Takuya; Masuda, Kiyoshi; Imoto, Issei

2018-01-01

Autosomal recessive primary microcephaly (microcephaly primary hereditary, MCPH) is a genetically heterogeneous rare developmental disorder that is characterized by prenatal onset of abnormal brain growth, which leads to intellectual disability of variable severity. We report a 5-year-old male who presented with a severe form of primary microcephaly. Targeted panel sequencing revealed compound heterozygous truncating mutations of the abnormal spindle-like microcephaly-associated ( ASPM ) gene, which confirmed the MCPH5 diagnosis. A novel NM_018136.4: c.9742_9745del (p.Lys3248Serfs*13) deletion mutation was identified.

Heterozygous CAV1 frameshift mutations (MIM 601047 in patients with atypical partial lipodystrophy and hypertriglyceridemia

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Alston Lindsay

2008-01-01

Full Text Available Abstract Background Mice with a deleted Cav1 gene encoding caveolin-1 develop adipocyte abnormalities and insulin resistance. From genomic DNA of patients with atypical lipodystrophy and hypertriglyceridemia who had no mutations in any known lipodystrophy gene, we used DNA sequence analysis to screen the coding regions of human CAV1 (MIM 601047. Results We found a heterozygous frameshift mutation in CAV1, designated I134fsdelA-X137, in a female patient who had atypical partial lipodystrophy, with subcutaneous fat loss affecting the upper part of her body and face, but sparing her legs, gluteal region and visceral fat stores. She had severe type 5 hyperlipoproteinemia, with recurrent pancreatitis. In addition, she had some atypical features, including congenital cataracts and neurological findings. Her father was also heterozygous for this mutation, and had a similar pattern of fat redistribution, hypertriglyceridemia and congenital cataracts, with milder neurological involvement. An unrelated patient had a different heterozygous frameshift mutation in the CAV1 gene, designated -88delC. He also had a partial lipodystrophy phenotype, with subcutaneous fat loss affecting the arms, legs and gluteal region, but sparing his face, neck and visceral fat stores. He also had severe type 5 hyperlipoproteinemia, with recurrent pancreatitis; however he had no clinically apparent neurological manifestations. The mutations were absent from the genomes of 1063 healthy individuals. Conclusion Thus, very rare CAV1 frameshift mutations appear to be associated with atypical lipodystrophy and hypertriglyceridemia.

PROCESS OPTIMIZATION OF TETRA ACETYL ETHYLENE DIAMINE ACTIVATED HYDROGEN PEROXIDE BLEACHING OF POPULUS NIGRA CTMP

OpenAIRE

Qiang Zhao; Junwen Pu; Shulei Mao; Guibo Qi

2010-01-01

To enhance the bleaching efficiency, the activator of tetra acetyl ethylene diamine (TAED) was used in conventional H2O2 bleaching. The H2O2/TAED bleaching system can accelerate the reaction rate and shorten bleaching time at relative low temperature, which can reduce the production cost. In this research, the process with hydrogen peroxide activated by TAED bleaching of Populus nigra chemi-thermo mechanical pulp was optimized. Suitable bleaching conditions were confirmed as follows: pulp con...

Stem respiration of Populus species in the third year of free-air CO2 enrichment

OpenAIRE

GIELEN, Birgit; Scarascia-Mugnozza, G.; Ceulemans, R.

2003-01-01

Carbon cycling in ecosystems, and especially in forests, is intensively studied to predict the effects of global climate change, and the role which forests may play in 'changing climate change'. One of the questions is whether the carbon balance of forests will be affected by increasing atmospheric CO2 concentrations. Regarding this question, effects of elevated [CO2 ] on woody-tissue respiration have frequently been neglected. Stem respiration of three Populus species (P. alba L. (Clone 2AS-...

Influence of irrigation and fertilization on transpiration and hydraulic properties of Populus deltoides.

Energy Technology Data Exchange (ETDEWEB)

Samuelson, Lisa, J.; Stokes, Thomas, A.; Coleman, Mark, D.

2007-02-01

Summary Long-term hydraulic acclimation to resource availability was explored in 3-year-bld Populus deltoides Bartr. ex Marsh. clones by examining transpiration. leaf-specific hydraulic conductance (GL), canopy stomatal conductance (Gs) and leaf to sapwood area ratio (AL:Asi)n response to imgation (13 and 551 mm year in addition to ambient precipitation) and fertilization (0 and 120 kg N ha-' year-'). Sap flow was measured continuously over one growing season with thermal dissipation probes. Fertilization had a greater effect on growth and hydraulic properties than imgation, and fertilization effects were independent of irrigation treatment. Transpiration on a ground area basis (E) ranged between 0.3 and 1.8 mm day-', and increased 66% and 90% in response to imgation and fertilization, respectively. Increases in GL, Gs at a reference vapor pressure deficit of 1 kPa, and transpiration per unit leaf areain response to increases in resource availability were associated with reductions in AL:As and consequently a minimal change in the water potential gradient from soil to leaf. Imgation and fertilization increased leaf area index similarly, from an average 1.16 in control stands to 1.45, but sapwood area was increased from 4.0 to 6.3 m ha-' by irrigation and from 3.7 to 6.7 m2 ha-' by fertilization. The balance between leaf area and sapwood area was important in understanding long-term hydraulic acclimation to resource availability and mechanisms controlling maximum productivity in Populus deltoides.

Natural Selection and Recombination Rate Variation Shape Nucleotide Polymorphism Across the Genomes of Three Related Populus Species.

Science.gov (United States)

Wang, Jing; Street, Nathaniel R; Scofield, Douglas G; Ingvarsson, Pär K

2016-03-01

A central aim of evolutionary genomics is to identify the relative roles that various evolutionary forces have played in generating and shaping genetic variation within and among species. Here we use whole-genome resequencing data to characterize and compare genome-wide patterns of nucleotide polymorphism, site frequency spectrum, and population-scaled recombination rates in three species of Populus: Populus tremula, P. tremuloides, and P. trichocarpa. We find that P. tremuloides has the highest level of genome-wide variation, skewed allele frequencies, and population-scaled recombination rates, whereas P. trichocarpa harbors the lowest. Our findings highlight multiple lines of evidence suggesting that natural selection, due to both purifying and positive selection, has widely shaped patterns of nucleotide polymorphism at linked neutral sites in all three species. Differences in effective population sizes and rates of recombination largely explain the disparate magnitudes and signatures of linked selection that we observe among species. The present work provides the first phylogenetic comparative study on a genome-wide scale in forest trees. This information will also improve our ability to understand how various evolutionary forces have interacted to influence genome evolution among related species. Copyright © 2016 by the Genetics Society of America.

Heterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II.

Science.gov (United States)

Wenzhi, He; Ruijin, Wen; Jieliang, Li; Xiaoyan, Ma; Haibo, Liu; Xiaoman, Wang; Jiajia, Xian; Shaoying, Li; Shuanglin, Li; Qing, Li

2015-10-01

Waardenburg syndrome (WS) is a rare disease characterized by sensorineural deafness and pigment disturbance. To date, almost 100 mutations have been reported, but few reports on cases with SOX10 gene deletion. The inheritance pattern of SOX10 gene deletion is still unclear. Our objective was to identify the genetic causes of Waardenburg syndrome type II in a two-generation Chinese family. Clinical evaluations were conducted in both of the patients. Microarray analysis and multiplex ligation-dependent probe amplification (MLPA) were performed to identify disease-related copy number variants (CNVs). DNA sequencing of the SOX10, MITF and SNAI2 genes was performed to identify the pathogenic mutation responsible for WS2. A 280kb heterozygous deletion at the 22q13.1 chromosome region (including SOX10) was detected in both of the patients. No mutation was found in the patients, unaffected family members and 30 unrelated healthy controls. This report is the first to describe SOX10 heterozygous deletions in Chinese WS2 patients. Our result conform the thesis that heterozygous deletions at SOX10 is an important pathogenicity for WS, and present as autosomal dominant inheritance. Nevertheless, heterozygous deletion of the SOX10 gene would be worth investigating to understand their functions and contributions to neurologic phenotypes. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Earthworms, arthropods and plant litter decomposition in aspen (Populus tremuloides) and lodgepole pine(Pinus contorta) forests in Colorado, USA

Science.gov (United States)

Grizelle Gonzalez; Timothy R. Seastedt; Zugeily Donato

2003-01-01

We compared the abundance and community composition of earthworms, soil macroarthropods, and litter microarthropods to test faunal effects on plant litter decomposition rates in two forests in the subalpine in Colorado, USA. Litterbags containing recently senesced litter of Populus tremuloides (aspen) and Pinus contorta (lodgepole pine) were placed in aspen and pine...

Evolutionary Quantitative Genomics of Populus trichocarpa.

Directory of Open Access Journals (Sweden)

Ilga Porth

Full Text Available Forest trees generally show high levels of local adaptation and efforts focusing on understanding adaptation to climate will be crucial for species survival and management. Here, we address fundamental questions regarding the molecular basis of adaptation in undomesticated forest tree populations to past climatic environments by employing an integrative quantitative genetics and landscape genomics approach. Using this comprehensive approach, we studied the molecular basis of climate adaptation in 433 Populus trichocarpa (black cottonwood genotypes originating across western North America. Variation in 74 field-assessed traits (growth, ecophysiology, phenology, leaf stomata, wood, and disease resistance was investigated for signatures of selection (comparing QST-FST using clustering of individuals by climate of origin (temperature and precipitation. 29,354 SNPs were investigated employing three different outlier detection methods and marker-inferred relatedness was estimated to obtain the narrow-sense estimate of population differentiation in wild populations. In addition, we compared our results with previously assessed selection of candidate SNPs using the 25 topographical units (drainages across the P. trichocarpa sampling range as population groupings. Narrow-sense QST for 53% of distinct field traits was significantly divergent from expectations of neutrality (indicating adaptive trait variation; 2,855 SNPs showed signals of diversifying selection and of these, 118 SNPs (within 81 genes were associated with adaptive traits (based on significant QST. Many SNPs were putatively pleiotropic for functionally uncorrelated adaptive traits, such as autumn phenology, height, and disease resistance. Evolutionary quantitative genomics in P. trichocarpa provides an enhanced understanding regarding the molecular basis of climate-driven selection in forest trees and we highlight that important loci underlying adaptive trait variation also show

Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

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Canafoglia, Laura; Gennaro, Elena; Capovilla, Giuseppe; Gobbi, Giuseppe; Boni, Antonella; Beccaria, Francesca; Viri, Maurizio; Michelucci, Roberto; Agazzi, Pamela; Assereto, Stefania; Coviello, Domenico A; Di Stefano, Maria; Rossi Sebastiano, Davide; Franceschetti, Silvana; Zara, Federico

2012-12-01

Unverricht-Lundborg disease (EPM1A) is frequently due to an unstable expansion of a dodecamer repeat in the CSTB gene, whereas other types of mutations are rare. EPM1A due to homozygous expansion has a rather stereotyped presentation with prominent action myoclonus. We describe eight patients with five different compound heterozygous CSTB point or indel mutations in order to highlight their particular phenotypical presentations and evaluate their genotype-phenotype relationships. We screened CSTB mutations by means of Southern blotting and the sequencing of the genomic DNA of each proband. CSTB messenger RNA (mRNA) aberrations were characterized by sequencing the complementary DNA (cDNA) of lymphoblastoid cells, and assessing the protein concentrations in the lymphoblasts. The patient evaluations included the use of a simplified myoclonus severity rating scale, multiple neurophysiologic tests, and electroencephalography (EEG)-polygraphic recordings. To highlight the particular clinical features and disease time-course in compound heterozygous patients, we compared some of their characteristics with those observed in a series of 40 patients carrying the common homozygous expansion mutation observed at the C. Besta Foundation, Milan, Italy. The eight compound heterozygous patients belong to six EPM1A families (out of 52; 11.5%) diagnosed at the Laboratory of Genetics of the Galliera Hospitals in Genoa, Italy. They segregated five different heterozygous point or indel mutations in association with the common dodecamer expansion. Four patients from three families had previously reported CSTB mutations (c.67-1G>C and c.168+1_18del); one had a novel nonsense mutation at the first exon (c.133C>T) leading to a premature stop codon predicting a short peptide; the other three patients from two families had a complex novel indel mutation involving the donor splice site of intron 2 (c.168+2_169+21delinsAA) and leading to an aberrant transcript with a partially retained intron

Stem respiration of Populus species in the third year of free-air CO2 enrichment.

Science.gov (United States)

Gielen, Birgit; Scarascia-Mugnozza, Giuseppe; Ceulemans, Reinhart

2003-04-01

Carbon cycling in ecosystems, and especially in forests, is intensively studied to predict the effects of global climate change, and the role which forests may play in 'changing climate change'. One of the questions is whether the carbon balance of forests will be affected by increasing atmospheric CO2 concentrations. Regarding this question, effects of elevated [CO2] on woody-tissue respiration have frequently been neglected. Stem respiration of three Populus species (P. alba L. (Clone 2AS-11), P. nigra L. (Clone Jean Pourtet), and P. x euramericana (Clone I-214)) was measured in a managed, high-density forest plantation exposed to free-air CO2 enrichment (POPFACE). During the period of measurements, in May of the third year, stem respiration rates were not affected by the FACE treatment. Moreover, FACE did not influence the relationships between respiration rate and both stem temperature and relative growth rate. The results were supported by the reported absence of a FACE-effect on growth and stem wood density.

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Science.gov (United States)

Dentici, M L; Terracciano, A; Bellacchio, E; Capolino, R; Novelli, A; Digilio, M C; Dallapiccola, B

2018-02-10

Circumferential skin creases Kunze type (CSC-KT; OMIM 156610, 616734) is a rare disorder characterized by folding of excess skin, which leads to ringed creases, known as Michelin Tire Baby Syndrome (MTBS). CSC-KT patients also exhibit facial dysmorphism, growth retardation, intellectual disability (ID) and multiple congenital malformations. Recently, 2 heterozygous mutations in TUBB gene and 4 mutations (both homozygous and heterozygous) in MAPRE2 gene were identified in 3 and 4 CSC-KT patients, respectively. In the 3 TUBB gene-related CSC-KT patients, all mutations fall in the N-terminal gene domain and were de novo. Mutations in the C-terminal of TUBB gene have been associated to microcephaly and structural brain malformation, in the absence of CSC-KT features. We report a 9-year-old boy with a diagnosis of CSC-KT based on MTBS, facial dysmorphism, microcephaly, severe ID, cortical atrophy and corpus callosum hypoplasia. Sanger sequencing identified a novel heterozygous c.218T>C (p.Met73Thr) mutation in the N-terminal of TUBB gene, that was inherited from the mother affected by isolated MTBS. This is the first report of inherited TUBB gene-related CSC-KT resulting from a novel heterozygous mutation in the N-terminal domain. Present data support the role of TUBB mutations in CSC-KT and definitely includes CSC-KT syndrome within the tubulinopathies. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis.

Science.gov (United States)

Xie, Yingjun; Huang, Xueqiong; Liang, Yujian; Xu, Lingling; Pei, Yuxin; Cheng, Yucai; Zhang, Lidan; Tang, Wen

2017-11-01

Cystic fibrosis (CF) is the most common autosomal recessive disease among Caucasians but is rarer in the Chinese population, because mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. To elucidate the causative role of a novel compound heterozygous mutation of CF. In this study, clinical samples were obtained from two siblings with recurrent airway infections, clubbed fingers, salt-sweat and failure to gain weight in a non-consanguineous Chinese family. Next-generation sequencing was performed on the 27 coding exons of CFTR in both children, with confirmation by Sanger sequencing. Next-generation sequencing showed the same compound heterozygous CFTR mutation (c.865A>T p.Arg289X and c.3651_3652insAAAT p.Tyr1219X) in both children. As this mutation is consistent with the clinical manifestations of CF and no other mutations were detected after scanning the gene sequence, we suggest that the CF phenotype is caused by compound heterozygosity for c.865A>T and c.3651_3652insAAAT. As c865A>T is not currently listed in the "Cystic Fibrosis Mutation Database", this information about CF in a Chinese population is of interest. © 2015 John Wiley & Sons Ltd.

Early-Onset X-Linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene.

Science.gov (United States)

Shifera, Amde Selassie; Kay, Christine Nichols

2015-01-01

To report a heterozygous female presenting with an early-onset and severe form of X-linked retinitis pigmentosa (XLRP). This is a case series presenting the clinical findings in a heterozygous female with XLRP and two of her family members. Fundus photography, fundus autofluorescence, ocular coherence tomography, and visual perimetry are presented. The proband reported here is a heterozygous female who presented at the age of 8 years with an early onset and aggressive form of XLRP. The patient belongs to a four-generation family with a total of three affected females and four affected males. The patient was initially diagnosed with retinitis pigmentosa (RP) at the age of 4 years. Genetic testing identified a heterozygous donor splice site mutation in intron 1 (IVS1 + 1G > A) of the retinitis pigmentosa GTPase regulator gene. The father of the proband was diagnosed with RP when he was a young child. The sister of the proband, evaluated at the age of 6 years, showed macular pigmentary changes. Although carriers of XLRP are usually asymptomatic or have a mild disease of late onset, the proband presented here exhibited an early-onset, aggressive form of the disease. It is not clear why some carrier females manifest a severe phenotype. A better understanding of the genetic processes involved in the penetrance and expressivity of XLRP in heterozygous females could assist in providing the appropriate counseling to affected families.

Salt stress induces the formation of a novel type of 'pressure wood' in two Populus species.

Science.gov (United States)

Janz, Dennis; Lautner, Silke; Wildhagen, Henning; Behnke, Katja; Schnitzler, Jörg-Peter; Rennenberg, Heinz; Fromm, Jörg; Polle, Andrea

2012-04-01

• Salinity causes osmotic stress and limits biomass production of plants. The goal of this study was to investigate mechanisms underlying hydraulic adaptation to salinity. • Anatomical, ecophysiological and transcriptional responses to salinity were investigated in the xylem of a salt-sensitive (Populus × canescens) and a salt-tolerant species (Populus euphratica). • Moderate salt stress, which suppressed but did not abolish photosynthesis and radial growth in P. × canescens, resulted in hydraulic adaptation by increased vessel frequencies and decreased vessel lumina. Transcript abundances of a suite of genes (FLA, COB-like, BAM, XET, etc.) previously shown to be activated during tension wood formation, were collectively suppressed in developing xylem, whereas those for stress and defense-related genes increased. A subset of cell wall-related genes was also suppressed in salt-exposed P. euphratica, although this species largely excluded sodium and showed no anatomical alterations. Salt exposure influenced cell wall composition involving increases in the lignin : carbohydrate ratio in both species. • In conclusion, hydraulic stress adaptation involves cell wall modifications reciprocal to tension wood formation that result in the formation of a novel type of reaction wood in upright stems named 'pressure wood'. Our data suggest that transcriptional co-regulation of a core set of genes determines reaction wood composition. © 2011 The Authors. New Phytologist © 2011 New Phytologist Trust.

Differential transcriptome analysis between Populus and its synthesized allotriploids driven by second-division restitution.

Science.gov (United States)

Cheng, Shiping; Huang, Zhen; Li, Yun; Liao, Ting; Suo, Yujing; Zhang, Pingdong; Wang, Jun; Kang, Xiangyang

2015-12-01

In this report, we compared transcriptomic differences between a synthetic Populus section Tacamahaca triploid driven by second-division restitution and its parents using a high-throughput RNA-seq method. A total of 4,080 genes were differentially expressed between the high-growth vigor allotriploids (SDR-H) and their parents, and 719 genes were non-additively expressed in SDR-H. Differences in gene expression between the allotriploid and male parent were more significant than those between the allotriploid and female parent, which may be caused by maternal effects. We observed 3,559 differentially expressed genes (DEGs) between the SDR-H and male parent. Notably, the genes were mainly involved in metabolic process, cell proliferation, DNA methylation, cell division, and meristem and developmental growth. Among the 1,056 DEGs between SDR-H and female parent, many genes were associated with metabolic process and carbon utilization. In addition, 1,789 DEGs between high- and low-growth vigor allotriploid were mainly associated with metabolic process, auxin poplar transport, and regulation of meristem growth. Our results indicated that the higher poplar ploidy level can generate extensive transcriptomic diversity compared with its parents. Overall, these results increased our understanding of the driving force for phenotypic variation and adaptation in allopolyploids driven by second-division restitution. © 2015 Institute of Botany, Chinese Academy of Sciences.

Comparison of Spectrophotometry, Chromate Inhibition, and Cytofluorometry Versus Gene Sequencing for Detection of Heterozygously Glucose-6-Phosphate Dehydrogenase-Deficient Females.

Science.gov (United States)

Peters, Anna L; Veldthuis, Martijn; van Leeuwen, Karin; Bossuyt, Patrick M M; Vlaar, Alexander P J; van Bruggen, Robin; de Korte, Dirk; Van Noorden, Cornelis J F; van Zwieten, Rob

2017-11-01

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency worldwide. Detection of heterozygously deficient females can be difficult as residual activity in G6PD-sufficient red blood cells (RBCs) can mask deficiency. In this study, we compared accuracy of 4 methods for detection of G6PD deficiency in females. Blood samples from females more than 3 months of age were used for spectrophotometric measurement of G6PD activity and for determination of the percentage G6PD-negative RBCs by cytofluorometry. An additional sample from females suspected to have G6PD deficiency based on the spectrophotometric G6PD activity was used for measuring chromate inhibition and sequencing of the G6PD gene. Of 165 included females, 114 were suspected to have heterozygous deficiency. From 75 females, an extra sample was obtained. In this group, mutation analysis detected 27 heterozygously deficient females. The sensitivity of spectrophotometry, cytofluorometry, and chromate inhibition was calculated to be 0.52 (confidence interval [CI]: 0.32-0.71), 0.85 (CI: 0.66-0.96), and 0.96 (CI: 0.71-1.00, respectively, and the specificity was 1.00 (CI: 0.93-1.00), 0.88 (CI: 0.75-0.95), and 0.98 (CI: 0.89-1.00), respectively. Heterozygously G6PD-deficient females with a larger percentage of G6PD-sufficient RBCs are missed by routine methods measuring total G6PD activity. However, the majority of these females can be detected with both chromate inhibition and cytofluorometry.

Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family.

Science.gov (United States)

Ma, Yalin; Xiao, Yun; Zhang, Fengguo; Han, Yuechen; Li, Jianfeng; Xu, Lei; Bai, Xiaohui; Wang, Haibo

2016-04-01

Mutations in MYO7A gene have been reported to be associated with Usher Syndrome type 1B (USH1B) and nonsyndromic hearing loss (DFNB2, DFNA11). Most mutations in MYO7A gene caused USH1B, whereas only a few reported mutations led to DFNB2 and DFNA11. The current study was designed to investigate the mutations among a Chinese family with autosomal recessive hearing loss. In this study, we present the clinical, genetic and molecular characteristics of a Chinese family. Targeted capture of 127 known deafness genes and next-generation sequencing were employed to study the genetic causes of two siblings in the Chinese family. Sanger sequencing was employed to examine those variant mutations in the members of this family and other ethnicity-matched controls. We identified the novel compound heterozygous mutant alleles of MYO7A gene: a novel missense mutation c.3671C>A (p.A1224D) and a reported insert mutation c.390_391insC (p.P131PfsX9). Variants were further confirmed by Sanger sequencing. These two compound heterozygous variants were co-segregated with autosomal recessive hearing loss phenotype. The gene mutation analysis and protein sequence alignment further supported that the novel compound heterozygous mutations were pathogenic. The novel compound heterozygous mutations (c.3671C>A and c.390_391insC) in MYO7A gene identified in this study were responsible for the autosomal recessive sensorineural hearing loss of this Chinese family. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

A 34K SNP genotyping array for Populus trichocarpa: design, application to the study of natural populations and transferability to other Populus species.

Science.gov (United States)

Geraldes, A; Difazio, S P; Slavov, G T; Ranjan, P; Muchero, W; Hannemann, J; Gunter, L E; Wymore, A M; Grassa, C J; Farzaneh, N; Porth, I; McKown, A D; Skyba, O; Li, E; Fujita, M; Klápště, J; Martin, J; Schackwitz, W; Pennacchio, C; Rokhsar, D; Friedmann, M C; Wasteneys, G O; Guy, R D; El-Kassaby, Y A; Mansfield, S D; Cronk, Q C B; Ehlting, J; Douglas, C J; Tuskan, G A

2013-03-01

Genetic mapping of quantitative traits requires genotypic data for large numbers of markers in many individuals. For such studies, the use of large single nucleotide polymorphism (SNP) genotyping arrays still offers the most cost-effective solution. Herein we report on the design and performance of a SNP genotyping array for Populus trichocarpa (black cottonwood). This genotyping array was designed with SNPs pre-ascertained in 34 wild accessions covering most of the species latitudinal range. We adopted a candidate gene approach to the array design that resulted in the selection of 34 131 SNPs, the majority of which are located in, or within 2 kb of, 3543 candidate genes. A subset of the SNPs on the array (539) was selected based on patterns of variation among the SNP discovery accessions. We show that more than 95% of the loci produce high quality genotypes and that the genotyping error rate for these is likely below 2%. We demonstrate that even among small numbers of samples (n = 10) from local populations over 84% of loci are polymorphic. We also tested the applicability of the array to other species in the genus and found that the number of polymorphic loci decreases rapidly with genetic distance, with the largest numbers detected in other species in section Tacamahaca. Finally, we provide evidence for the utility of the array to address evolutionary questions such as intraspecific studies of genetic differentiation, species assignment and the detection of natural hybrids. © 2013 Blackwell Publishing Ltd.

Unexpected ancestry of Populus seedlings from a hybrid zone implies a large role for postzygotic selection in the maintenance of species.

Science.gov (United States)

Lindtke, Dorothea; Gompert, Zachariah; Lexer, Christian; Buerkle, C Alex

2014-09-01

In the context of potential interspecific gene flow, the integrity of species will be maintained by reproductive barriers that reduce genetic exchange, including traits associated with prezygotic isolation or poor performance of hybrids. Hybrid zones can be used to study the importance of different reproductive barriers, particularly when both parental species and hybrids occur in close spatial proximity. We investigated the importance of barriers to gene flow that act early vs. late in the life cycle of European Populus by quantifying the prevalence of homospecific and hybrid matings within a mosaic hybrid zone. We obtained genotypic data for 11 976 loci from progeny and their maternal parents and constructed a Bayesian model to estimate individual admixture proportions and hybrid classes for sampled trees and for the unsampled pollen parent. Matings that included one or two hybrid parents were common, resulting in admixture proportions of progeny that spanned the whole range of potential ancestries between the two parental species. This result contrasts strongly with the distribution of admixture proportions in adult trees, where intermediate hybrids and each of the parental species are separated into three discrete ancestry clusters. The existence of the full range of hybrids in seedlings is consistent with weak reproductive isolation early in the life cycle of Populus. Instead, a considerable amount of selection must take place between the seedling stage and maturity to remove many hybrid seedlings. Our results highlight that high hybridization rates and appreciable hybrid fitness do not necessarily conflict with the maintenance of species integrity. © 2014 John Wiley & Sons Ltd.

Zinc accumulation potential and toxicity threshold determined for a metal-accumulating Populus canescens clone in a dose-response study

Energy Technology Data Exchange (ETDEWEB)

Langer, Ingrid [Institute of Soil Science, University of Natural Resources and Applied Life Sciences, Peter Jordan-Strasse 82, A-1190 Vienna (Austria); Krpata, Doris [Institute of Microbiology, Innsbruck University, Technikerstrasse 25, A-6020 Innsbruck (Austria); Fitz, Walter J.; Wenzel, Walter W. [Institute of Soil Science, University of Natural Resources and Applied Life Sciences, Peter Jordan-Strasse 82, A-1190 Vienna (Austria); Schweiger, Peter F., E-mail: peter.schweiger@boku.ac.a [Institute of Soil Science, University of Natural Resources and Applied Life Sciences, Peter Jordan-Strasse 82, A-1190 Vienna (Austria)

2009-10-15

The effect of increasing soil Zn concentrations on growth and Zn tissue concentrations of a metal-accumulating aspen clone was examined in a dose-response study. Plants were grown in a soil with a low native Zn content which was spiked with Zn salt solutions and subsequently aged. Plant growth was not affected by NH{sub 4}NO{sub 3}-extractable soil Zn concentrations up to 60 mug Zn g{sup -1} soil, but it was completely inhibited at extractable concentrations above 90 mug Zn g{sup -1} soil. From these data an effective concentration of 68.5 mug extractable Zn g{sup -1} soil was calculated at which plant growth was reduced by 50%. The obtained information on toxicity threshold concentrations, and the relation between plant Zn accumulation and extractable soil Zn concentrations may be used to assess the suitability of the investigated Populus canescens clone for various phytoremediation strategies. The potential risk of metal transfer into food webs associated with P. canescens stands on Zn-polluted sites may also be estimated. - Quantitative information about the concentration-dependent Zn accumulation of Populus canescens contributes to assess its suitability for phytoremediation.

Capturing the Alternative Cleavage and Polyadenylation Sites of 14 NAC Genes in Populus Using a Combination of 3′-RACE and High-Throughput Sequencing

Directory of Open Access Journals (Sweden)

Haoran Wang

2018-03-01

Full Text Available Detection of complex splice sites (SSs and polyadenylation sites (PASs of eukaryotic genes is essential for the elucidation of gene regulatory mechanisms. Transcriptome-wide studies using high-throughput sequencing (HTS have revealed prevalent alternative splicing (AS and alternative polyadenylation (APA in plants. However, small-scale and high-depth HTS aimed at detecting genes or gene families are very few and limited. We explored a convenient and flexible method for profiling SSs and PASs, which combines rapid amplification of 3′-cDNA ends (3′-RACE and HTS. Fourteen NAC (NAM, ATAF1/2, CUC2 transcription factor genes of Populus trichocarpa were analyzed by 3′-RACE-seq. Based on experimental reproducibility, boundary sequence analysis and reverse transcription PCR (RT-PCR verification, only canonical SSs were considered to be authentic. Based on stringent criteria, candidate PASs without any internal priming features were chosen as authentic PASs and assumed to be PAS-rich markers. Thirty-four novel canonical SSs, six intronic/internal exons and thirty 3′-UTR PAS-rich markers were revealed by 3′-RACE-seq. Using 3′-RACE and real-time PCR, we confirmed that three APA transcripts ending in/around PAS-rich markers were differentially regulated in response to plant hormones. Our results indicate that 3′-RACE-seq is a robust and cost-effective method to discover SSs and label active regions subjected to APA for genes or gene families. The method is suitable for small-scale AS and APA research in the initial stage.

A study of polymerization of aspen (Populus) wood lipophilic extractives by SEC and Py-GC/MS

CSIR Research Space (South Africa)

Sithole, Bruce

2013-03-01

Full Text Available ) Orig inal manuscript received 13 June 2012, revision accepted 31 October 2012 Vol 66 No 1 January - March 2013 1 PEER REVIEWED A study of polymerization of aspen (Populus) wood lipophilic extractives by SEC and Py-GC/MS BRUCE SITHOLE1*, LUC... of polymerized wood resin that will be difficult to remove if present in pulp and paper products. On the other hand, these problems may be minor compared to using unseasoned wood. KEYWORDS: Aspen, extractives, polymerization, size exclusion chromatography, Py...

The Coexpression of Reelin and Neuronal Nitric Oxide Synthase in a Subpopulation of Dentate Gyrus Neurons Is Downregulated in Heterozygous Reeler Mice

Directory of Open Access Journals (Sweden)

Raquel Romay-Tallón

2010-01-01

Full Text Available Reelin is an extracellular matrix protein expressed in several interneuron subtypes in the hippocampus and dentate gyrus. Neuronal nitric oxide synthase (nNOS is also expressed by interneurons in these areas. We investigated whether reelin and nNOS are co-localized in the same population of hippocampal interneurons, and whether this colocalization is altered in the heterozygous reeler mouse. We found colocalization of nNOS in reelin-positive cells in the CA1 stratum radiatum and lacunosum moleculare, the CA3 stratum radiatum, and the dentate gyrus subgranular zone, molecular layer, and hilus. In heterozygous reeler mice, the colocalization of nNOS in reelin-positive cells was significantly decreased only in the subgranular zone and molecular layer. The coexpression of reelin and nNOS in several hippocampal regions suggests that reelin and nNOS may work synergistically to promote glutamatergic function, and the loss of this coexpression in heterozygous reeler mice may underlie some of the behavioral deficits observed in these animals.

Unusual xanthomas in a young patient with heterozygous familial hypercholesterolemia and type III hyperlipoproteinemia

Energy Technology Data Exchange (ETDEWEB)

Feussner, G.; Dobmeyer, J. [Univ. of Heidelberg (Germany); Nissen, H.; Hansen, T.S. [Odense Univ. Hospital (Denmark)

1996-10-16

We report on a 20-year-old man with the combination of two independent familial lipoprotein disorders: heterozygous familial hypercholesterolemia (FH) and type III hyperlipoproteinemia (HLP). Familial hypercholesterolemia was diagnosed by elevated total and low density lipoprotein cholesterol levels and family history. By denaturing gradient gel electrophoresis, DNA sequencing and restriction fragment length polymorphism analysis, a G{r_arrow}A splice donor mutation in intron 3 of the proband`s low density lipoprotein receptor gene was identified as the underlying molecular defect. This mutation was described previously as a receptor-negative founder mutation in Norway (FH-Elverum) and subsequently in 6 unrelated heterozygous English patients, creating a severe phenotype of familial hypercholesterolemia. Type III HLP was confirmed by homozygosity for apolipoprotein (apo) E2 and an elevated ratio of very low density lipoprotein cholesterol to serum triglycerides (0.40; normal ratio about 0.20). The patient has unusual flat xanthomas in the interdigital webs of the hands which are normally not found in either disease. These dermatological findings might therefore be indicative of the rare combination of both disorders of lipoprotein metabolism in one individual. 29 refs., 5 figs., 1 tab.

Heterozygous and homozygous JAK2(V617F states modeled by induced pluripotent stem cells from myeloproliferative neoplasm patients.

Directory of Open Access Journals (Sweden)

Joseph Saliba

Full Text Available JAK2(V617F is the predominant mutation in myeloproliferative neoplasms (MPN. Modeling MPN in a human context might be helpful for the screening of molecules targeting JAK2 and its intracellular signaling. We describe here the derivation of induced pluripotent stem (iPS cell lines from 2 polycythemia vera patients carrying a heterozygous and a homozygous mutated JAK2(V617F, respectively. In the patient with homozygous JAK2(V617F, additional ASXL1 mutation and chromosome 20 allowed partial delineation of the clonal architecture and assignation of the cellular origin of the derived iPS cell lines. The marked difference in the response to erythropoietin (EPO between homozygous and heterozygous cell lines correlated with the constitutive activation level of signaling pathways. Strikingly, heterozygous iPS cells showed thrombopoietin (TPO-independent formation of megakaryocytic colonies, but not EPO-independent erythroid colony formation. JAK2, PI3K and HSP90 inhibitors were able to block spontaneous and EPO-induced growth of erythroid colonies from GPA(+CD41(+ cells derived from iPS cells. Altogether, this study brings the proof of concept that iPS can be used for studying MPN pathogenesis, clonal architecture, and drug efficacy.

Compound heterozygous TYK2 mutations underlie primary immunodeficiency with T-cell lymphopenia.

Science.gov (United States)

Nemoto, Michiko; Hattori, Hiroyoshi; Maeda, Naoko; Akita, Nobuhiro; Muramatsu, Hideki; Moritani, Suzuko; Kawasaki, Tomonori; Maejima, Masami; Ode, Hirotaka; Hachiya, Atsuko; Sugiura, Wataru; Yokomaku, Yoshiyuki; Horibe, Keizo; Iwatani, Yasumasa

2018-05-03

Complete tyrosine kinase 2 (TYK2) deficiency has been previously described in patients with primary immunodeficiency diseases. The patients were infected with various pathogens, including mycobacteria and/or viruses, and one of the patients developed hyper-IgE syndrome. A detailed immunological investigation of these patients revealed impaired responses to type I IFN, IL-10, IL-12 and IL-23, which are associated with increased susceptibility to mycobacterial and/or viral infections. Herein, we report a recessive partial TYK2 deficiency in two siblings who presented with T-cell lymphopenia characterized by low naïve CD4 + T-cell counts and who developed Epstein-Barr virus (EBV)-associated B-cell lymphoma. Targeted exome-sequencing of the siblings' genomes demonstrated that both patients carried novel compound heterozygous mutations (c.209_212delGCTT/c.691C > T, p.Cys70Serfs*21/p.Arg231Trp) in the TYK2. The TYK2 protein levels were reduced by 35% in the T cells of the patient. Unlike the response under complete TYK2 deficiency, the patient's T cells responded normally to type I IFN, IL-6, IL-10 and IL-12, whereas the cells displayed an impaired response to IL-23. Furthermore, the level of STAT1 was low in the cells of the patient. These studies reveal a new clinical entity of a primary immunodeficiency with T-cell lymphopenia that is associated with compound heterozygous TYK2 mutations in the patients.

The use of the white poplar (Populus alba L.) biomass as fuel

Institute of Scientific and Technical Information of China (English)

Tatiana Griu; Aurel Lunguleasa

2016-01-01

We determined the calorific value of white poplar (Populus alba L.) woody biomass to use it as fire-wood. The value of 19.133 MJ kg-1 obtained experimen-tally shows that the white poplar can be quite successfully used as firewood. Being of a lower quality in comparison with usual beech firewood, the white poplar has similar calorific value. The white poplar has a calorific density of 30.7%lower than that of current firewood. That is why the price of this firewood from white poplar is lower accord-ingly. Also, the prognosis of calorific value on the basis of the main chemical elements, being very close to the experimental value (?2.6%), indicates an appropriate value can be achieved to be used for investigation with the chemical element analysis.

A novel bHLH transcription factor PebHLH35 from Populus euphratica confers drought tolerance through regulating stomatal development, photosynthesis and growth in Arabidopsis

Energy Technology Data Exchange (ETDEWEB)

Dong, Yan [College of Biological Sciences and Technology, National Engineering Laboratory for Tree Breeding, Beijing Forestry University, Beijing 100083 (China); Liaoning Forestry Vocational-Technical College, Shenyang 110101 (China); Wang, Congpeng; Han, Xiao; Tang, Sha; Liu, Sha [College of Biological Sciences and Technology, National Engineering Laboratory for Tree Breeding, Beijing Forestry University, Beijing 100083 (China); Xia, Xinli, E-mail: xiaxl@bjfu.edu.cn [College of Biological Sciences and Technology, National Engineering Laboratory for Tree Breeding, Beijing Forestry University, Beijing 100083 (China); Yin, Weilun, E-mail: yinwl@bjfu.edu.cn [College of Biological Sciences and Technology, National Engineering Laboratory for Tree Breeding, Beijing Forestry University, Beijing 100083 (China)

2014-07-18

Highlights: • PebHLH35 is firstly cloned from Populus euphratica and characterized its functions. • PebHLH35 is important for earlier seedling establishment and vegetative growth. • PebHLH35 enhances tolerance to drought by regulating growth. • PebHLH35 enhances tolerance to drought by regulating stomatal development. • PebHLH35 enhances tolerance to drought by regulating photosynthesis and transpiration. - Abstract: Plant basic helix-loop-helix (bHLH) transcription factors (TFs) are involved in a variety of physiological processes including the regulation of plant responses to various abiotic stresses. However, few drought-responsive bHLH family members in Populus have been reported. In this study, a novel bHLH gene (PebHLH35) was cloned from Populus euphratica. Expression analysis in P. euphratica revealed that PebHLH35 was induced by drought and abscisic acid. Subcellular localization studies using a PebHLH35-GFP fusion showed that the protein was localized to the nucleus. Ectopic overexpression of PebHLH35 in Arabidopsis resulted in a longer primary root, more leaves, and a greater leaf area under well-watered conditions compared with vector control plants. Notably, PebHLH35 overexpression lines showed enhanced tolerance to water-deficit stress. This finding was supported by anatomical and physiological analyses, which revealed a reduced stomatal density, stomatal aperture, transpiration rate, and water loss, and a higher chlorophyll content and photosynthetic rate. Our results suggest that PebHLH35 functions as a positive regulator of drought stress responses by regulating stomatal density, stomatal aperture, photosynthesis and growth.

A novel bHLH transcription factor PebHLH35 from Populus euphratica confers drought tolerance through regulating stomatal development, photosynthesis and growth in Arabidopsis

International Nuclear Information System (INIS)

Dong, Yan; Wang, Congpeng; Han, Xiao; Tang, Sha; Liu, Sha; Xia, Xinli; Yin, Weilun

2014-01-01

Highlights: • PebHLH35 is firstly cloned from Populus euphratica and characterized its functions. • PebHLH35 is important for earlier seedling establishment and vegetative growth. • PebHLH35 enhances tolerance to drought by regulating growth. • PebHLH35 enhances tolerance to drought by regulating stomatal development. • PebHLH35 enhances tolerance to drought by regulating photosynthesis and transpiration. - Abstract: Plant basic helix-loop-helix (bHLH) transcription factors (TFs) are involved in a variety of physiological processes including the regulation of plant responses to various abiotic stresses. However, few drought-responsive bHLH family members in Populus have been reported. In this study, a novel bHLH gene (PebHLH35) was cloned from Populus euphratica. Expression analysis in P. euphratica revealed that PebHLH35 was induced by drought and abscisic acid. Subcellular localization studies using a PebHLH35-GFP fusion showed that the protein was localized to the nucleus. Ectopic overexpression of PebHLH35 in Arabidopsis resulted in a longer primary root, more leaves, and a greater leaf area under well-watered conditions compared with vector control plants. Notably, PebHLH35 overexpression lines showed enhanced tolerance to water-deficit stress. This finding was supported by anatomical and physiological analyses, which revealed a reduced stomatal density, stomatal aperture, transpiration rate, and water loss, and a higher chlorophyll content and photosynthetic rate. Our results suggest that PebHLH35 functions as a positive regulator of drought stress responses by regulating stomatal density, stomatal aperture, photosynthesis and growth

Variation of leaf margin serration in Populus nigra of industrial dumps

Directory of Open Access Journals (Sweden)

Yu. A. Shtirs

2017-07-01

Full Text Available The variability of leaf margin serration of Populus nigra L. in conditions of industrial dumps (coal mines dumps and overburden dumps and city park is estimated. The value of this indicator is in the range from 1.25 to 1.76 and significantly increases along the gradient: coal mines dumps – overburden dumps – city park. From the number of selected gradations of P. nigra leaf blades, the gradation with values of 1.45-1.55 is most pronounced according to the analyzed index for industrial dumps, for the park – with the values of 1.55-1.65. The degree of serration of edge leaf blade is characterized by low values of variation – coefficient of variation is less than 10.0%. We registered the significant positive correlation between the average values of leaf margin serration and the length of P. nigra leaf blade.

Natural hybridization between Populus nigra L. and P. x canadensis Moench. Hybrid offspring competes for niches along the Rhine river in the Netherlands

NARCIS (Netherlands)

Smulders, M.J.M.; Beringen, R.; Volosyanchuk, R.; Vanden Broeck, A.; Schoot, van der J.; Arens, P.F.P.; Vosman, B.

2008-01-01

Black poplar (Populus nigra L.) is a major species for European riparian forests but its abundance has decreased over the decades due to human influences. For restoration of floodplain woodlands, the remaining black poplar stands may act as source population. A potential problem is that P. nigra and

The yield of natural trembling aspen (populus tremula L.) stands (northern and eastern anatolia)

International Nuclear Information System (INIS)

Misir, M.; Misir, N.

2013-01-01

Trembling aspen (Populus tremula L.) is one of the most resistant to cold natural species in Turkey. In spite of its importance, there is no research on the yield. Hence, site productivity was determined and yield Table for undisturbed natural trembling aspen stands in Turkey was developed. Data were obtained from a total of 46 plots ranging in age from 17 to 82 years. Yield Table indicates that trembling aspen is very slow growing in young and middle age and Current Annual Increment (CAI) and Mean Annual Increment (MAI) values do not reach its maximum value, even at age 70. This is a proof that trembling aspen is not a fast growing species as expected. The reason for its slow growth is attributed to very short period of growth at very high altitudes. However, in the event of 50 years rotation age, mean annual volume increments of 8.0, 3.6 and 1.1 m3 are estimated for trembling aspen for site classes I, II and III, respectively. At extended rotations, trees of pole sizes could be obtained on all site classes. (author)

A systems biology, whole-genome association analysis of the molecular regulation of biomass growth and composition in Populus deltoides

Energy Technology Data Exchange (ETDEWEB)

Kirst, Matias [Univ. of Florida, Gainesville, FL (United States)

2014-04-14

Poplars trees are well suited for biofuel production due to their fast growing habit, favorable wood composition and adaptation to a broad range of environments. The availability of a reference genome sequence, ease of vegetative propagation and availability of transformation methods also make poplar an ideal model for the study of wood formation and biomass growth in woody, perennial plants. The objective of this project was to conduct a genome-wide association genetics study to identify genes that regulate bioenergy traits in Populus deltoides (eastern cottonwood). Populus deltoides is a genetically diverse keystone forest species in North America and an important short rotation woody crop for the bioenergy industry. We searched for associations between eight growth and wood composition traits and common and low-frequency single-nucleotide polymorphisms (SNPs) detected by targeted resequencing of 18,153 genes in a population of 391 unrelated individuals. To increase power to detect associations with low-frequency variants, multiple-marker association tests were used in combination with single-marker association tests. Significant associations were discovered for all phenotypes and are indicative that low-frequency polymorphisms contribute to phenotypic variance of several bioenergy traits. These polymorphism are critical tools for the development of specialized plant feedstocks for bioenergy.

A systems biology, whole-genome association analysis of the molecular regulation of biomass growth and composition in Populus deltoides

Energy Technology Data Exchange (ETDEWEB)

Kirst, Matias [Univ. of Florida, Gainesville, FL (United States)

2015-04-15

Poplars trees are well suited for biofuel production due to their fast growing habit, favorable wood composition and adaptation to a broad range of environments. The availability of a reference genome sequence, ease of vegetative propagation and availability of transformation methods also make poplar an ideal model for the study of wood formation and biomass growth in woody, perennial plants. The objective of this project was to conduct a genome-wide association genetics study to identify genes that regulate bioenergy traits in Populus deltoides (eastern cottonwood). Populus deltoides is a genetically diverse keystone forest species in North America and an important short rotation woody crop for the bioenergy industry. We searched for associations between eight growth and wood composition traits and common and low-frequency single-nucleotide polymorphisms (SNPs) detected by targeted resequencing of 18,153 genes in a population of 391 unrelated individuals. To increase power to detect associations with low-frequency variants, multiple-marker association tests were used in combination with single-marker association tests. Significant associations were discovered for all phenotypes and are indicative that low-frequency polymorphisms contribute to phenotypic variance of several bioenergy traits. These polymorphism are critical tools for the development of specialized plant feedstocks for bioenergy.

Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.

Science.gov (United States)

Barbaro, Vanessa; Nasti, Annamaria Assunta; Raffa, Paolo; Migliorati, Angelo; Nespeca, Patrizia; Ferrari, Stefano; Palumbo, Elisa; Bertolin, Marina; Breda, Claudia; Miceli, Francesco; Russo, Antonella; Caenazzo, Luciana; Ponzin, Diego; Palù, Giorgio; Parolin, Cristina; Di Iorio, Enzo

2016-08-01

: Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a rare autosomal dominant disease caused by mutations in the p63 gene. To date, approximately 40 different p63 mutations have been identified, all heterozygous. No definitive treatments are available to counteract and resolve the progressive corneal degeneration due to a premature aging of limbal epithelial stem cells. Here, we describe a unique case of a young female patient, aged 18 years, with EEC and corneal dysfunction, who was, surprisingly, homozygous for a novel and de novo R311K missense mutation in the p63 gene. A detailed analysis of the degree of somatic mosaicism in leukocytes from peripheral blood and oral mucosal epithelial stem cells (OMESCs) from biopsies of buccal mucosa showed that approximately 80% were homozygous mutant cells and 20% were heterozygous. Cytogenetic and molecular analyses excluded genomic alterations, thus suggesting a de novo mutation followed by an allelic gene conversion of the wild-type allele by de novo mutant allele as a possible mechanism to explain the homozygous condition. R311K-p63 OMESCs were expanded in vitro and heterozygous holoclones selected following clonal analysis. These R311K-p63 OMESCs were able to generate well-organized and stratified epithelia in vitro, resembling the features of healthy tissues. This study supports the rationale for the development of cultured autologous oral mucosal epithelial stem cell sheets obtained by selected heterozygous R311K-p63 stem cells, as an effective and personalized therapy for reconstructing the ocular surface of this unique case of EEC syndrome, thus bypassing gene therapy approaches. This case demonstrates that in a somatic mosaicism context, a novel homozygous mutation in the p63 gene can arise as a consequence of an allelic gene conversion event, subsequent to a de novo mutation. The heterozygous mutant R311K-p63 stem cells can be isolated by means of clonal analysis and given their good regenerative

Stem wood properties of Populus tremuloides, Betula papyrifera and Acer saccharum saplings after three years of treatments to elevated carbon dioxide and ozone

Science.gov (United States)

Seija Kaakinen; Katri Kostiainen; Fredrik Ek; Pekka Saranpaa; Mark E. Kubiske; Jaak Sober; David F. Karnosky; Elina Vapaavuori

2004-01-01

The aim of this study was to examine the effects of elevated carbon dioxide [CO2] and ozone [O3] and their interaction on wood chemistry and anatomy of five clones of 3-year-old trembling aspen (Populus tremuloides Michx.). Wood chemistry was studied also on paper birch (Betula papyrifera...

Structure and diversity of ground mesofauna inUlmus and Populus consortia in the industrial areas of mining and smelting complex of krivyi rig basin

Directory of Open Access Journals (Sweden)

V. V. Kachinskaya

2010-05-01

Full Text Available The structure and biological diversity of ground mesofauna on a consortium level of organisation of ecosystems are considered. Indicators of structural organisation and biodiversity of ground mesofauna were analised in Ulmus and Populus consortia in the conditions of industrial territories of mining and smelting complex of Krivyi Rig Basin. It is established that taxonomical structure of ground mesofauna is characterised by insignificant number and quantity of taxonomical groups. Prevalence of hortobionts and herpetobionts in morpho-ecological structure of the community testifies to their attachment to consortium’s determinants and influence of steppe climate on its structure. Dominance of phytophages and polyphages in trophic structure is caused by a combination of consortium determinants specificity and «a zone source» of the fauna formations. The structural organisation of ground mesofauna in consortia of Ulmus and Populus in the conditions of industrial sites is characterised by simplified taxonomical structure with low biodiversity at all levels.

Significance of stigma receptivity in intergeneric cross-pollination of Salix × Populus

Directory of Open Access Journals (Sweden)

Elżbieta Zenkteler

2016-09-01

Full Text Available The pollen–stigma interaction plays an important role in reproductive process and has been continuously studied in many interspecific and intergeneric crossing experiments. The aim of this study was to investigate stigma receptivity (SR of willow in order to determine the most suitable period for its pollination with poplar pollen and improve the effectiveness of Salix × Populus crosses. Tissue samples were examined histologically using light, epifluorescent, scanning, and transmission electron microscopy. Willow SR was determined by stigma morphological traits, test of pollen germination rate, Peroxtesmo test of peroxidase and esterase activity on stigma surface as well as papilla ultrastructure at anthesis. We have ascertained that the SR duration in willow is short, lasting from 1 to 2 DA. The poplar pollen germination rate on willow stigmas on 1 DA ranged from 26.3 to 11.2%.

Delayed Recovery of Skeletal Muscle Mass following Hindlimb Immobilization in mTOR Heterozygous Mice

OpenAIRE

Lang, Susan M.; Kazi, Abid A.; Hong-Brown, Ly; Lang, Charles H.

2012-01-01

The present study addressed the hypothesis that reducing mTOR, as seen in mTOR heterozygous (+/-) mice, would exaggerate the changes in protein synthesis and degradation observed during hindlimb immobilization as well as impair normal muscle regrowth during the recovery period. Atrophy was produced by unilateral hindlimb immobilization and data compared to the contralateral gastrocnemius. In wild-type (WT) mice, the gradual loss of muscle mass plateaued by day 7. This response was associated ...

Expression of embryonic hemoglobin genes in mice heterozygous for α-thalassemia or β-duplication traits and in mice heterozygous for both traits

International Nuclear Information System (INIS)

Popp, R.A.; Marsh, C.L.; Skow, L.C.

1981-01-01

Hemoglobins of mouse embryos at 11.5 through 16.5 days of gestation were separated by electrophoresis on cellulose acetate and quantitated by a scanning densitometer to study the effects of two radiation-induced mutations on the expression of embryonic hemoglobin genes in mice. Normal mice produce three kinds of embryonic hemoglobins. In heterozygous α-thalassemic embryos, expression of EI (x 2 y 2 ) and EII (α 2 y 2 ) is deficient because the x- and α-globin genes of one of the allelic pairs of Hba on chromosome 11 was deleted or otherwise inactivated by X irradiation. Simultaneous inactivation of the x- and α-globin genes indicates that these genes must be closely linked. Reduced x- and α-chain synthesis results in an excess of y chains that associate as homotetramers. This unique y 4 hemoglobin also appears in β-duplication embryos where excess y chains are produced by the presence of three rather than two functional alleles of y- and β-globin genes. In double heterozygotes, which have a single functional allele of x- and α-globin genes and three functional alleles of y- and β-globin genes, synthesis of α and non-α chains is severely imbalanced and half of the total hemoglobin is y 4 . Mouse y 4 has a high affinity for oxygen, P 50 of less than 10 mm Hg, but it lacks cooperativity so is inefficient for oxygen transport. The death of double heterozygotes in late fetal or neonatal life may be in large part to oxygen deprivation to the tissues

Stem respiration of Populus species in the third year of free-air CO{sub 2} enrichment

Energy Technology Data Exchange (ETDEWEB)

Bielen, B.; Geulemans, R. [Univ. of Antwerp, Dept. of Biology, Research Group of Plant and Vegetation Ecology, Wilrijk (Belgium); Scarascia-Mugnozza, G. [Univ. degli Studi della Tuscia, Dept. of Forest Environment and Resources, Viterbo (Italy)

2003-04-01

Carbon cycling in ecosystems, and especially in forests, is intensively studied to predict the effects of global climate change, and the role which forests may play in 'changing climate change'. One of the questions is whether the carbon balance of forests will be affected by increasing atmospheric CO{sub 2} concentrations. Regarding this question, effects of elevated [CO{sub 2}] on woody-tissue respiration have frequently been neglected. Stem respiration of three Populus species (P. alba L. (Clone 2AS-11), P. nigra L. (Clone Jean Pourtet), and P. x euramericana (Clone I-214)) was measured in a managed, high-density forest plantation exposed to free-air CO{sub 2} enrichment (POPFACE). During the period of measurements, in May of the third year, stem respiration rates were not affected by the FACE treatment. Moreover, FACE did not influence the relationships between respiration rate and both stem temperature and relative growth rate. The results were supported by the reported absence of a FACE-effect on growth and stem wood density. (au)

Heterozygous Lmna(delK32) mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity

DEFF Research Database (Denmark)

Cattin, M. E.; Bertrand, A. T.; Schlossarek, S.

2013-01-01

itself has a clear deleterious effect on engineered heart tissues force of contraction, it also leads to the nuclear aggregation of viral-mediated expression of K32-lamin. In conclusion, Het mice are the first knock-in Lmna model with cardiac-specific phenotype at the heterozygous state. Altogether, our....... The pathomechanisms linking mutations to DCM remain to be elucidated. We investigated the phenotype and associated pathomechanisms of heterozygous Lmna(K32/) (Het) knock-in mice, which carry a human mutation. Het mice developed a cardiac-specific phenotype. Two phases, with two different pathomechanisms, could...... be observed that lead to the development of cardiac dysfunction, DCM and death between 35 and 70 weeks of age. In young Het hearts, there was a clear reduction in lamin A/C level, mainly due to the degradation of toxic K32-lamin. As a side effect, lamin A/C haploinsufficiency probably triggers the cardiac...

Analysis of a Farquhar-von Caemmerer-Berry leaf-level photosynthetic rate model for Populus tremuloides in the context of modeling and measurement limitations

Science.gov (United States)

K.E. Lenz; G.E. Host; K. Roskoski; A. Noormets; A. Sober; D.F. Karnosky

2010-01-01

The balance of mechanistic detail with mathematical simplicity contributes to the broad use of the Farquhar, von Caemmerer and Berry (FvCB) photosynthetic rate model. Here the FvCB model was coupled with a stomatal conductance model to form an [A,gs] model, and parameterized for mature Populus tremuloides leaves under varying CO2...

Analysis of a Farquhar-von Caemmerer-Berry leaf-level photosynthetic rate model for Populus tremuloides in the context of modeling and measurement limitations

International Nuclear Information System (INIS)

Lenz, Kathryn E.; Host, George E.; Roskoski, Kyle; Noormets, Asko; Sober, Anu; Karnosky, David F.

2010-01-01

The balance of mechanistic detail with mathematical simplicity contributes to the broad use of the Farquhar, von Caemmerer and Berry (FvCB) photosynthetic rate model. Here the FvCB model was coupled with a stomatal conductance model to form an [A,g s ] model, and parameterized for mature Populus tremuloides leaves under varying CO 2 and temperature levels. Data were selected to be within typical forest light, CO 2 and temperature ranges, reducing artifacts associated with data collected at extreme values. The error between model-predicted photosynthetic rate (A) and A data was measured in three ways and found to be up to three times greater for each of two independent data sets than for a base-line evaluation using parameterization data. The evaluation methods used here apply to comparisons of model validation results among data sets varying in number and distribution of data, as well as to performance comparisons of [A,g s ] models differing in internal-process components. - A photosynthetic rate model is parameterized for Populus tremuloides and evaluated based on its ability to predict dependent as well as independent data.

Chronic Toxoplasma gondii in Nurr1-Null Heterozygous Mice Exacerbates Elevated Open Field Activity

OpenAIRE

Eells, Jeffrey B.; Varela-Stokes, Andrea; Guo-Ross, Shirley X.; Kummari, Evangel; Smith, Holly M.; Cox, Erin; Lindsay, David S.

2015-01-01

Latent infection with Toxoplasma gondii is common in humans (approximately 30% of the global population) and is a significant risk factor for schizophrenia. Since prevalence of T. gondii infection is far greater than prevalence of schizophrenia (0.5-1%), genetic risk factors are likely also necessary to contribute to schizophrenia. To test this concept in an animal model, Nurr1-null heterozygous (+/-) mice and wild-type (+/+) mice were evaluate using an emergence test, activity in an open fie...

Generalized pustular psoriasis in infant with heterozygous mutation in the IL36RN gene successfully treated with infliximab

DEFF Research Database (Denmark)

Glerup, Mia; Herlin, Troels; Veirum, Jens Erik

, but to our knowledge heterozygous IL36RN mutation related to severe generalized pustular psoriasis in early childhood has not been described. Case presentation: First child of non-consanguineous caucasian (Danish) parents prenatally diagnosed with tetralogy of Fallot. Array CGH revealed normal karyotype...

Xylem anatomy correlates with gas exchange, water-use efficiency and growth performance under contrasting water regimes: evidence from Populus deltoides x Populus nigra hybrids.

Science.gov (United States)

Fichot, Régis; Laurans, Françoise; Monclus, Romain; Moreau, Alain; Pilate, Gilles; Brignolas, Franck

2009-12-01

Six Populus deltoides Bartr. ex Marsh. x P. nigra L. genotypes were selected to investigate whether stem xylem anatomy correlated with gas exchange rates, water-use efficiency (WUE) and growth performance. Clonal copies of the genotypes were grown in a two-plot common garden test under contrasting water regimes, with one plot maintained irrigated and the other one subjected to moderate summer water deficit. The six genotypes displayed a large range of xylem anatomy, mean vessel and fibre diameter varying from about 40 to 60 microm and from 7.5 to 10.5 microm, respectively. Decreased water availability resulted in a reduced cell size and an important rise in vessel density, but the extent of xylem plasticity was both genotype and trait dependent. Vessel diameter and theoretical xylem-specific hydraulic conductivity correlated positively with stomatal conductance, carbon isotope discrimination and growth performance-related traits and negatively with intrinsic WUE, especially under water deficit conditions. Vessel diameter and vessel density measured under water deficit conditions correlated with the relative losses in biomass production in response to water deprivation; this resulted from the fact that a more plastic xylem structure was generally accompanied by a larger loss in biomass production.

Intron-mediated alternative splicing of WOOD-ASSOCIATED NAC TRANSCRIPTION FACTOR1B regulates cell wall thickening during fiber development in Populus species.

Science.gov (United States)

Zhao, Yunjun; Sun, Jiayan; Xu, Peng; Zhang, Rui; Li, Laigeng

2014-02-01

Alternative splicing is an important mechanism involved in regulating the development of multicellular organisms. Although many genes in plants undergo alternative splicing, little is understood of its significance in regulating plant growth and development. In this study, alternative splicing of black cottonwood (Populus trichocarpa) wood-associated NAC domain transcription factor (PtrWNDs), PtrWND1B, is shown to occur exclusively in secondary xylem fiber cells. PtrWND1B is expressed with a normal short-transcript PtrWND1B-s as well as its alternative long-transcript PtrWND1B-l. The intron 2 structure of the PtrWND1B gene was identified as a critical sequence that causes PtrWND1B alternative splicing. Suppression of PtrWND1B expression specifically inhibited fiber cell wall thickening. The two PtrWND1B isoforms play antagonistic roles in regulating cell wall thickening during fiber cell differentiation in Populus spp. PtrWND1B-s overexpression enhanced fiber cell wall thickening, while overexpression of PtrWND1B-l repressed fiber cell wall thickening. Alternative splicing may enable more specific regulation of processes such as fiber cell wall thickening during wood formation.

Microsatellite DNA fingerprinting, differentiation, and genetic relationships of clones, cultivars, and varieties of six poplar species from three sections of the genus Populus.

Science.gov (United States)

Rahman, Muhammad H; Rajora, Om P

2002-12-01

Accurate identification of Populus clones and cultivars is essential for effective selection, breeding, and genetic resource management programs. The unit of cultivation and breeding in poplars is a clone, and individual cultivars are normally represented by a single clone. Microsatellite DNA markers of 10 simple sequence repeat loci were used for genetic fingerprinting and differentiation of 96 clones/cultivars and varieties belonging to six Populus species (P. deltoides, P. nigra, P. balsamifera, P. trichocarpa, P. grandidentata, and P maximowiczii) from three sections of the genus. All 96 clones/cultivars could be uniquely fingerprinted based on their single- or multilocus microsatellite genotypes. The five P. grandidentata clones could be differentiated based on their single-locus genotypes, while six clones of P. trichocarpa and 11 clones of P. maximowiczii could be identified by their two-locus genotypes. Twenty clones of P. deltoides and 25 clones of P. nigra could be differentiated by their multilocus genotypes employing three loci, and 29 clones of P. balsamifera required the use of multilocus genotypes at five loci for their genetic fingerprinting and differentiation. The loci PTR3, PTR5, and PTR7 were found to be the most informative for genetic fingerprinting and differentiation of the clones. The mean number of alleles per locus ranged from 2.9 in P. trichocarpa or P. grandidentata to 6.0 in P. balsamifera and 11.2 in 96 clones of the six species. The mean number of observed genotypes per locus ranged from 2.4 in P. grandidentata to 7.4 in P. balsamifera and 19.6 in 96 clones of the six species. The mean number of unique genotypes per locus ranged from 1.3 in P. grandidentata to 3.9 in P. deltoides and 8.8 in 96 clones of the six species. The power of discrimination of the microsatellite DNA markers in the 96 clones ranged from 0.726 for PTR4 to 0.939 for PTR7, with a mean of 0.832 over the 10 simple sequence repeat loci. Clones/cultivars from the same

Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.

Science.gov (United States)

Gao, Xue; Wang, Guo-Jian; Yuan, Yong-Yi; Xin, Feng; Han, Ming-Yu; Lu, Jing-Qiao; Zhao, Hui; Yu, Fei; Xu, Jin-Cao; Zhang, Mei-Guang; Dong, Jiang; Lin, Xi; Dai, Pu

2014-01-01

Usher syndrome is an autosomal recessive disease characterized by sensorineural hearing loss, age-dependent retinitis pigmentosa (RP), and occasionally vestibular dysfunction. The most severe form is Usher syndrome type 1 (USH1). Mutations in the MYO7A gene are responsible for USH1 and account for 29-55% of USH1 cases. Here, we characterized a Chinese family (no. 7162) with USH1. Combining the targeted capture of 131 known deafness genes, next-generation sequencing, and bioinformatic analysis, we identified two deleterious compound heterozygous mutations in the MYO7A gene: a reported missense mutation c.73G>A (p.G25R) and a novel nonsense mutation c.462C>A (p.C154X). The two compound variants are absent in 219 ethnicity-matched controls, co-segregates with the USH clinical phenotypes, including hearing loss, vestibular dysfunction, and age-dependent penetrance of progressive RP, in family 7162. Therefore, we concluded that the USH1 in this family was caused by compound heterozygous mutations in MYO7A.

Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.

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Xue Gao

Full Text Available Usher syndrome is an autosomal recessive disease characterized by sensorineural hearing loss, age-dependent retinitis pigmentosa (RP, and occasionally vestibular dysfunction. The most severe form is Usher syndrome type 1 (USH1. Mutations in the MYO7A gene are responsible for USH1 and account for 29-55% of USH1 cases. Here, we characterized a Chinese family (no. 7162 with USH1. Combining the targeted capture of 131 known deafness genes, next-generation sequencing, and bioinformatic analysis, we identified two deleterious compound heterozygous mutations in the MYO7A gene: a reported missense mutation c.73G>A (p.G25R and a novel nonsense mutation c.462C>A (p.C154X. The two compound variants are absent in 219 ethnicity-matched controls, co-segregates with the USH clinical phenotypes, including hearing loss, vestibular dysfunction, and age-dependent penetrance of progressive RP, in family 7162. Therefore, we concluded that the USH1 in this family was caused by compound heterozygous mutations in MYO7A.

Improved motor performance in Dyt1 ΔGAG heterozygous knock-in mice by cerebellar Purkinje-cell specific Dyt1 conditional knocking-out.

Science.gov (United States)

Yokoi, Fumiaki; Dang, Mai Tu; Li, Yuqing

2012-05-01

Early-onset generalized torsion dystonia (dystonia 1) is an inherited movement disorder caused by mutations in DYT1 (TOR1A), which codes for torsinA. Most patients have a 3-base pair deletion (ΔGAG) in one allele of DYT1, corresponding to a loss of a glutamic acid residue (ΔE) in the C-terminal region of the protein. Functional alterations in basal ganglia circuits and the cerebellum have been reported in dystonia. Pharmacological manipulations or mutations in genes that result in functional alterations of the cerebellum have been reported to have dystonic symptoms and have been used as phenotypic rodent models. Additionally, structural lesions in the abnormal cerebellar circuits, such as cerebellectomy, have therapeutic effects in these models. A previous study has shown that the Dyt1 ΔGAG heterozygous knock-in (KI) mice exhibit motor deficits in the beam-walking test. Both Dyt1 ΔGAG heterozygous knock-in (KI) and Dyt1 Purkinje cell-specific knockout (Dyt1 pKO) mice exhibit dendritic alterations of cerebellar Purkinje cells. Here, Dyt1 pKO mice exhibited significantly less slip numbers in the beam-walking test, suggesting better motor performance than control littermates, and normal gait. Furthermore, Dyt1 ΔGAG KI/Dyt1 pKO double mutant mice exhibited significantly lower numbers of slips than Dyt1 ΔGAG heterozygous KI mice, suggesting Purkinje-cell specific knockout of Dyt1 wild-type (WT) allele in Dyt1 ΔGAG heterozygous KI mice rescued the motor deficits. The results suggest that molecular lesions of torsinA in Purkinje cells by gene therapy or intervening in the signaling pathway downstream of the cerebellar Purkinje cells may rescue motor symptoms in dystonia 1. Copyright © 2012 Elsevier B.V. All rights reserved.

PtrWRKY19, a novel WRKY transcription factor, contributes to the regulation of pith secondary wall formation in Populus trichocarpa

OpenAIRE

Li Yang; Xin Zhao; Fan Yang; Di Fan; Yuanzhong Jiang; Keming Luo

2016-01-01

WRKY proteins are one of the largest transcription factor families in higher plants and play diverse roles in various biological processes. Previous studies have shown that some WRKY members act as negative regulators of secondary cell wall formation in pith parenchyma cells. However, the regulatory mechanism of pith secondary wall formation in tree species remains largely unknown. In this study, PtrWRKY19 encoding a homolog of Arabidopsis WRKY12 was isolated from Populus trichocarpa. PtrWRKY...

Efeito da aplicação de calcário em estacas de Populus deltoides Bartr. ex Marsh cultivadas em vaso

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Jean Gabriel Medeiros da Silva

2002-01-01

Full Text Available This work intended to study the behavior of Populus deltoides regarding its development when submitted to different doses of lime. The research was carried out in the Silviculture Tecnology Center, at Universidade Federal de Santa Maria, Santa Maria - RS. The experiment was constituted by forty eight (48 experimental units completely randomized, with six (06 treatments and eight repetitions (08. Each experimental unit was constituted by a vase of three liters containing only one shoot cutting of Populus deltoides. The treatments were constituted by five different doses (T2: 7 tons of lime/ha; T3: 14 tons of lime/ha; T4: 21 tons of lime/ha; T5: 29 tons of lime/ha; T6: 38 tons of lime/ha plus the testimony, determined with base in the soil analysis used in the experiment. The plants were evaluated, after 120 days of the plantation date, considering its growth in height, its diameter of the neck and its weigh dry of the aerial part. The best average were reached by the treatments without lime and with seven tons of lime for ha in all the parameters observed. The other treatments presented inferior averages, which do not possess significant difference to each other at the level of 5%, for all the observed parameters.

Incremento volumétrico de un ensayo con híbridos de Populus spp.

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Oscar Vallejos-Barra

2015-09-01

Full Text Available El aumento de los requerimientos energéticos demandados por la sociedad ha impulsado el interés por establecer ensayos para seleccionar especies o híbridos que en el menor tiempo posible generen la mayor cantidad de volumen o biomasa. En esta investigación, se determinó el incremento medio anual del volumen de un ensayo con híbridos de Populus con la finalidad de dar a conocer la potencialidad de los híbridos del catálogo del Centro Tecnológico del Álamo (CTA de la Universidad de Talca. De este catálogo se escogieron los seis híbridos más promisorios y se compararon con seis híbridos comerciales. El ensayo se estableció a 10 km al norte de la ciudad de Talca, en la estación experimental Panguilemo de la Universidad de Talca. En terreno se midió el diámetro basal y la altura por tres años a las seis plantas centrales de cada parcela, con cuatro repeticiones por híbrido para ambas densidades de plantación (5.000 y 10.000 plantas por hectárea. El volumen se calculó utilizando el exponente mórfico de un Paracono. El incremento volumétrico varió entre 5,306 y 15,828 m3 ha-1 año-1, detectando diferencias significativas entre los híbridos. El grupo de mayor productividad estuvo compuesto por cinco híbridos todos del catálogo del CTA. Este resultado demuestra que si se desea una mayor productividad en plantaciones dendroenergéticas que utilicen híbridos de Populus se deberían considerar algunos de los híbridos del catálogo del Centro Tecnológico del Álamo (CTA de la Universidad de Talca.

Implications of compound heterozygous insulin receptor mutations in congenital muscle fibre type disproportion myopathy for the receptor kinase activation

DEFF Research Database (Denmark)

Klein, H H; Müller, R; Vestergaard, H

1999-01-01

We studied insulin receptor kinase activation in two brothers with congenital muscle fibre type disproportion myopathy and compound heterozygous mutations of the insulin receptor gene, their parents, and their unaffected brother. In the father who has a heterozygote Arg1174-->Gln mutation, in sit...

Identification and characterization of nuclear genes involved in photosynthesis in Populus

Science.gov (United States)

2014-01-01

Background The gap between the real and potential photosynthetic rate under field conditions suggests that photosynthesis could potentially be improved. Nuclear genes provide possible targets for improving photosynthetic efficiency. Hence, genome-wide identification and characterization of the nuclear genes affecting photosynthetic traits in woody plants would provide key insights on genetic regulation of photosynthesis and identify candidate processes for improvement of photosynthesis. Results Using microarray and bulked segregant analysis strategies, we identified differentially expressed nuclear genes for photosynthesis traits in a segregating population of poplar. We identified 515 differentially expressed genes in this population (FC ≥ 2 or FC ≤ 0.5, P photosynthesis by the nuclear genome mainly involves transport, metabolism and response to stimulus functions. Conclusions This study provides new genome-scale strategies for the discovery of potential candidate genes affecting photosynthesis in Populus, and for identification of the functions of genes involved in regulation of photosynthesis. This work also suggests that improving photosynthetic efficiency under field conditions will require the consideration of multiple factors, such as stress responses. PMID:24673936

Roles of gibberellin catabolism and signaling in growth and physiological response to drought and short-day photoperiods in Populus trees.

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Christine Zawaski

Full Text Available Survival and productivity of perennial plants in temperate zones are dependent on robust responses to prolonged and seasonal cycles of unfavorable conditions. Here we report whole-genome microarray, expression, physiological, and transgenic evidence in hybrid poplar (Populus tremula × Populus alba showing that gibberellin (GA catabolism and repressive signaling mediates shoot growth inhibition and physiological adaptation in response to drought and short-day (SD induced bud dormancy. Both water deprivation and SDs elicited activation of a suite of poplar GA2ox and DELLA encoding genes. Poplar transgenics with up-regulated GA 2-oxidase (GA2ox and DELLA domain proteins showed hypersensitive growth inhibition in response to both drought and SDs. In addition, the transgenic plants displayed greater drought resistance as evidenced by increased pigment concentrations (chlorophyll and carotenoid and reductions in electrolyte leakage (EL. Comparative transcriptome analysis using whole-genome microarray showed that the GA-deficiency and GA-insensitivity, SD-induced dormancy, and drought response in poplar share a common regulon of 684 differentially-expressed genes, which suggest GA metabolism and signaling plays a role in plant physiological adaptations in response to alterations in environmental factors. Our results demonstrate that GA catabolism and repressive signaling represents a major route for control of growth and physiological adaptation in response to immediate or imminent adverse conditions.

Low oxygen saturation and severe anemia in compound heterozygous Hb Louisville [β42(CD1)Phe→Leu] and Hb La Desirade [β129(H7)Ala→Val].

Science.gov (United States)

Kamseng, Parin; Trakulsrichai, Satariya; Trachoo, Objoon; Yimniam, Walaiporn; Panthan, Bhakbhoom; Jittorntam, Paisan; Niparuck, Pimjai; Sanguanwit, Pitsucha; Wananukul, Winai; Jindadamrongwech, Sumalee

2017-03-01

To investigate the cause(s) of a Thai male proband presenting low oxygen saturation by pulse oximetry (SpO 2 ) and severe anemia. As Hb variant was suspected, Hb typing was determined by high-performance liquid chromatography and capillary electrophoresis, and subsequently Hb variant was identified by DNA sequencing. Complete blood counts were performed using automated blood cell counter and oxygen saturation was measured by pulse oximetry. Proband was compound heterozygous for Hb Louisville [β42(CD1)Phe→Leu] and Hb La Desirade [β129(H7)Ala→Val]. Of the proband's two sons, one was compound heterozygous for Hb Louisville and Hb E and the other for Hb La Desirade and Hb E. The former son had similar clinical features and laboratory findings with those of the proband while the latter showed had no abnormal clinical manifestations. This the first report of compound heterozygosity of Hb Louisville and Hb La Desirade in an individual of Southeast Asian ethnicity. Hb variant identification is crucial for genetic counseling and appropriate treatment in regions where hemoglobinopathies are common.

Gamma radiation effect on Populus nigra assimilatory pigments

International Nuclear Information System (INIS)

Creanga, I. A.; Tudorie, Marcela; Mocanasu, C.; Creanga, Dorina

2002-01-01

The influence of low intensity gamma radiation on the photosynthesis in young poplar saplings was studied. Black poplar (Populus nigra) was chosen due to its ecological importance, as fast growing tree species with many hybrids, in the frame of a polluted environment. Assimilatory pigments in the leaves of irradiated saplings were assayed using standard spectrophotometric method in acetone extract. Series of five saplings formed the experimental samples. Chlorophyll a and chlorophyll b levels appeared as diminished in exposed samples in comparison to the controls. Linear regression was established in every case, the line slope showing the higher effect in chlorophyll b. Carotene pigments presented a slight increasing tendency in the exposed samples. Assimilatory pigment sum was shown to be affected by the same decreasing tendency. Student t-test was applied (two tailed, pair type) to reveal statistical significance of observed modifications. Though not very deep, the modifications induced by exposure to gamma radiation of low intensity (comparable to the local atmospheric variations, caused by both natural and artificial sources) represent putative inhibitory factors in young plant photosynthesis. The main mechanism of radiation action seems to be water radiolysis, triggering peroxide cascade, generally producing toxic products for the cell metabolism. Nevertheless, living cell ability to repair some damages caused by external stress could be revealed in the present case by the enhancing tendency of the carotenes which sustain photosynthesis as secondary pigments. (authors)

Mutations in the gene for lipoprotein lipase. A cause for low HDL cholesterol levels in individuals heterozygous for familial hypercholesterolemia

NARCIS (Netherlands)

Pimstone, S. N.; Gagné, S. E.; Gagné, C.; Lupien, P. J.; Gaudet, D.; Williams, R. R.; Kotze, M.; Reymer, P. W.; Defesche, J. C.; Kastelein, J. J.

1995-01-01

Familial hypercholesterolemia (FH) is characterized by elevated plasma concentrations of LDL cholesterol resulting from mutations in the gene for the LDL receptor. Low HDL cholesterol levels are seen frequently in patients both heterozygous and homozygous for mutations in this gene. Suggested

Disruption of hippocampus-regulated behavioural and cognitive processes by heterozygous constitutive deletion of SynGAP.

Science.gov (United States)

Muhia, Mary; Yee, Benjamin K; Feldon, Joram; Markopoulos, Foivos; Knuesel, Irene

2010-02-01

The brain-specific Ras/Rap-GTPase activating protein (SynGAP) is a prime candidate linking N-methyl-d-aspartate receptors to the regulation of the ERK/MAP kinase signalling cascade, suggested to be essential for experience-dependent synaptic plasticity. Here, we evaluated the behavioural phenotype of SynGAP heterozygous knockout mice (SG(+/-)), expressing roughly half the normal levels of SynGAP. In the cognitive domain, SG(+/-) mice demonstrated severe working and reference memory deficits in the radial arm maze task, a mild impairment early in the transfer test of the water maze task, and a deficiency in spontaneous alternation in an elevated T-maze. In the non-cognitive domain, SG(+/-) mice were hyperactive in the open field and appeared less anxious in the elevated plus maze test. In contrast, object recognition memory performance was not impaired in SG(+/-) mice. The reduction in SynGAP thus resulted in multiple behavioural traits suggestive of aberrant cognitive and non-cognitive processes normally mediated by the hippocampus. Immunohistochemical evaluation further revealed a significant reduction in calbindin-positive interneurons in the hippocampus and doublecortin-positive neurons in the dentate gyrus of adult SG(+/-) mice. Heterozygous constitutive deletion of SynGAP is therefore associated with notable behavioural as well as morphological phenotypes indicative of hippocampal dysfunction. Any suggestion of a possible causal link between them however remains a matter for further investigation.

Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.

Science.gov (United States)

Yang, T; Li, X; Huang, Q; Li, L; Chai, Y; Sun, L; Wang, X; Zhu, Y; Wang, Z; Huang, Z; Li, Y; Wu, H

2013-01-01

Waardenburg syndrome (WS) is characterized by sensorineural hearing loss and pigmentary defects of the hair, skin, and iris. Heterozygous mutations of MITF and its transactivator gene PAX3 are associated with Waardenburg syndrome type II (WS2) and type I (WS1), respectively. Most patients with MITF or PAX3 mutations, however, show variable penetrance of WS-associated phenotypes even within families segregating the same mutation, possibly mediated by genetic background or specific modifiers. In this study, we reported a rare Waardenburg syndrome simplex family in which a pair of WS parents gave birth to a child with double heterozygous mutations of MITF and PAX3. Compared to his parents who carried a single mutation in either MITF or PAX3, this child showed increased penetrance of pigmentary defects including white forelock, white eyebrows and eyelashes, and patchy facial depigmentation. This observation suggested that the expression level of MITF is closely correlated to the penetrance of WS, and variants in transcription regulator genes of MITF may modify the relevant clinical phenotypes. © 2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd.

Molecular characterization of a genetic variant of the steroid hormone-binding globulin gene in heterozygous subjects

Energy Technology Data Exchange (ETDEWEB)

Hardy, D.O.; Catterall, J.F. [Population Council, New York, NY (United States); Carino, C. [Instituto National de la Nutricion, Mexico City, MX (United States)] [and others

1995-04-01

Steroid hormone-binding globulin in human serum displays different isoelectric focusing (IEF) patterns among individuals, suggesting genetic variation in the gene for this extracellular steroid carrier protein. Analysis of allele frequencies and family studies suggested the existence of two codominant alleles of the gene. Subsequent determination of the molecular basis of a variant of the gene was carried out using DNA from homozygous individuals from a single Belgian family. It was of interest to characterize other variant individuals to determine whether all variants identified by IEF phenotyping were caused by the same mutation or whether other mutations occurred in the gene in different populations. Previous studies identified Mexican subjects who were heterozygous for the variant IEF phenotype. Denaturing gradient gel electrophoresis was used to localize the mutation in these subjects and to purify the variant allele for DNA sequence analysis. The results show that the mutation in this population is identical to that identified in the Belgian family, and no other mutations were detected in the gene. These data represent the first analysis of steroid hormone-binding globulin gene variation in heterozygous subjects and further support the conclusion of biallelism of the gene worldwide. 11 refs., 2 figs., 1 tab.

Epiphytic vegetation of Populus balsamifera and its significance as an air pollution indicator in Sudbury, Ontario

Energy Technology Data Exchange (ETDEWEB)

Leblanc, F; Rao, D N; Comeau, G

1972-01-01

Indices of atmospheric purity (IAP) of 31 sites, selected in the SO/sub 2/-polluted as well as in the nonpolluted areas around Sudbury were determined on the basis of number, frequency-coverage, and resistance factor of the epiphytes of Populus balsamifera. Based on these indices, arranged into convenient ranges, the investigated area was delimited into five different IAP zones. These zones were then compared with SO/sub 2/ pollution zones based on the ground-level average concentration of the gas prevailing in the area. From this comparison it is clear that the biological method provides a valid, quick, and economical way for assessing and mapping the long-range effect of pollution of a given area.

Optimization of agrobacterium tumefaciens mediated transformation in populus deltoides

International Nuclear Information System (INIS)

John, E.; Maqbool, A.; Malik, K.A.

2014-01-01

The objective of the study was to develop an efficient protocol for Populus deltoides transformation through Agrobacterium tumefaciens LBA4404. Agrobacterium strain harboring binary plasmid pGA482 with Gus (uidA) gene under CamV35S promoter and Neomycin phosphotransferase (nptII) gene under Nos promoter was used for the transformation. Nodal, internodal and leaf explants from 4-5 months In vitro and fieldgrown plants were used for the transformation. Transformation was done under different conditions including, preculture time, optical density, acetosyringone concentration, infection time and co-cultivation time. Confirmation of transformation was done through GUS histochemical staining. Highest transformation efficiency was observed in one week precultured leaf explants from field grown source on preculture medium containing 200 meu M acetosyringone. Precultured explants from In vitro source also gave good results for transformation but the callus formation was found to be slow in leaf explant. Calli from the both sources did not show any transformation when infected with O.D A600nm range from 0.3-0.8. Node and internode though showed less transformation rate but the callogenesis was found to be highest in node and internode explants on CIM 1. Leaf explants from field source also gave high callus induction on CIM 5. A. tumefaciens O.D A600nm 0.3-0.5 was found to be effective. Infection time of 1-2 hour and co-cultivation time of 1day in dark were found to be optimum for the transformation. 200mg/l of timentin was found the best to control the overgrowth of Agrobacterium.100mg/l Kanamycin in growth medium was found to sufficient for selection for transformants. Selected transformants were confirmed through PCR for the presence of transgene. The present protocol for P. deltoides was found to be efficient for genetic transformation and can be used to introduce novel traits in the P. deltoides. (author)

Alfa analysis of genetic diversity in populus cathayana rehd originating from south eastern Qinghai-Tibetan plateau of China

International Nuclear Information System (INIS)

Chen, K.; Peng, Y.

2010-01-01

The wide geographical and climatic distribution of Populus cathayana Rehd indicates that there is a large amount of genetic diversity available, which can be exploited for conservation, breeding programs and afforestation schemes. In our study, genetic diversity was evaluated in the natural populations of P. cathayana originating from southern and eastern areas of the Qinghai-Tibetan Plateau of China by means of AFLP markers. For four primer combinations, a total of 175 bands were obtained of which 173 (98.9%) were polymorphic. Six natural populations of P. cathayana possessed different levels of genetic diversity, high level of genetic differentiation existed among the populations (G/sub st) =0.489) of P. cathayana. Individuals cluster and PCO analysis based on Jaccards's similarity coefficient also showed evident population genetic structure with high level of population genetic differentiation. The long evolutionary process coupled with genetic drift within populations, rather than contemporary gene flow, are the major forces shaping genetic structure of P. cathayana populations. Moreover, there was no correspondence between geographical and genetic distances in the populations of P. cathayana, seldom gene exchange among the populations and different selection pressures may be the causes. Our findings of different levels of genetic diversity within populations and high level of genetic differentiation among the populations provided promising condition for further breeding and conservation programs. (author)

Elimination behaviour and soil mineral nitrogen load in an organic system with lactating sows – comparing pasture based systems with and without access to poplar (Populus sp.) trees

DEFF Research Database (Denmark)

Jakobsen, Malene; Hermansen, John Erik; Andersen, Heidi Mai-Lis

2017-01-01

There is an urgent need to introduce innovative strategies in the current free-range pig production to improve the environmental performance. Based on previous experiences, inclusion of a zone with poplar (Populus sp.) trees in individual sow paddocks was hypothesized to improve the system’s nitr...

Intron-Mediated Alternative Splicing of WOOD-ASSOCIATED NAC TRANSCRIPTION FACTOR1B Regulates Cell Wall Thickening during Fiber Development in Populus Species1[W

Science.gov (United States)

Zhao, Yunjun; Sun, Jiayan; Xu, Peng; Zhang, Rui; Li, Laigeng

2014-01-01

Alternative splicing is an important mechanism involved in regulating the development of multicellular organisms. Although many genes in plants undergo alternative splicing, little is understood of its significance in regulating plant growth and development. In this study, alternative splicing of black cottonwood (Populus trichocarpa) wood-associated NAC domain transcription factor (PtrWNDs), PtrWND1B, is shown to occur exclusively in secondary xylem fiber cells. PtrWND1B is expressed with a normal short-transcript PtrWND1B-s as well as its alternative long-transcript PtrWND1B-l. The intron 2 structure of the PtrWND1B gene was identified as a critical sequence that causes PtrWND1B alternative splicing. Suppression of PtrWND1B expression specifically inhibited fiber cell wall thickening. The two PtrWND1B isoforms play antagonistic roles in regulating cell wall thickening during fiber cell differentiation in Populus spp. PtrWND1B-s overexpression enhanced fiber cell wall thickening, while overexpression of PtrWND1B-l repressed fiber cell wall thickening. Alternative splicing may enable more specific regulation of processes such as fiber cell wall thickening during wood formation. PMID:24394777

Transcriptome responses to aluminum stress in roots of aspen (Populus tremula

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Grisel Nadine

2010-08-01

Full Text Available Abstract Background Ionic aluminum (mainly Al3+ is rhizotoxic and can be present in acid soils at concentrations high enough to inhibit root growth. Many forest tree species grow naturally in acid soils and often tolerate high concentrations of Al. Previously, we have shown that aspen (Populus tremula releases citrate and oxalate from roots in response to Al exposure. To obtain further insights into the root responses of aspen to Al, we investigated root gene expression at Al conditions that inhibit root growth. Results Treatment of the aspen roots with 500 μM Al induced a strong inhibition of root growth within 6 h of exposure time. The root growth subsequently recovered, reaching growth rates comparable to that of control plants. Changes in gene expression were determined after 6 h, 2 d, and 10 d of Al exposure. Replicated transcriptome analyses using the Affymetrix poplar genome array revealed a total of 175 significantly up-regulated and 69 down-regulated genes, of which 70% could be annotated based on Arabidopsis genome resources. Between 6 h and 2 d, the number of responsive genes strongly decreased from 202 to 26, and then the number of changes remained low. The responses after 6 h were characterized by genes involved in cell wall modification, ion transport, and oxidative stress. Two genes with prolonged induction were closely related to the Arabidopsis Al tolerance genes ALS3 (for Al sensitive 3 and MATE (for multidrug and toxin efflux protein, mediating citrate efflux. Patterns of expression in different plant organs and in response to Al indicated that the two aspen genes are homologs of the Arabidopsis ALS3 and MATE. Conclusion Exposure of aspen roots to Al results in a rapid inhibition of root growth and a large change in root gene expression. The subsequent root growth recovery and the concomitant reduction in the number of responsive genes presumably reflect the success of the roots in activating Al tolerance mechanisms. The

Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23.

Science.gov (United States)

Branson, Sara V; McClintic, Jedediah I; Stamper, Tara H; Haldeman-Englert, Chad R; John, Vishak J

2016-02-01

Usher syndrome is an autosomal recessive condition characterized by retinitis pigmentosa (RP) and congenital hearing loss, with or without vestibular dysfunction. Allelic variants of CDH23 cause both Usher syndrome type 1D (USH1D) and a form of nonsyndromic hearing loss (DFNB12). The authors describe here a 34-year-old patient with congenital hearing loss and a new diagnosis of sector RP who was found to have two novel compound heterozygous mutations in CDH23, including one missense (c.8530C > A; p.Pro2844Thr) and one splice-site (c.5820 + 5G > A) mutation. This is the first report of sector RP associated with these types of mutations in CDH23. Copyright 2016, SLACK Incorporated.

Differential effects of low and high dose folic acid on endothelial dysfunction in a murine model of mild hyperhomocysteinaemia.

Science.gov (United States)

Clarke, Zoe L; Moat, Stuart J; Miller, Alastair L; Randall, Michael D; Lewis, Malcolm J; Lang, Derek

2006-12-03

The exact mechanism(s) by which hyperhomocysteinaemia promotes vascular disease remains unclear. Moreover, recent evidence suggests that the beneficial effect of folic acid on endothelial function is independent of homocysteine-lowering. In the present study the effect of a low (400 microg/70 kg/day) and high (5 mg/70 kg/day) dose folic acid supplement on endothelium-dependent relaxation in the isolated perfused mesenteric bed of heterozygous cystathionine beta-synthase deficient mice was investigated. Elevated total plasma homocysteine and impaired relaxation responses to methacholine were observed in heterozygous mice. In the presence of N(G)-nitro-L-arginine methyl ester relaxation responses in wild-type tissues were reduced, but in heterozygous tissues were abolished. Clotrimazole and 18alpha-glycyrrhetinic acid, both inhibitors of non-nitric oxide/non-prostanoid-induced endothelium-dependent relaxation, reduced responses to methacholine in wild-type but not heterozygous tissues. The combination of N(G)-nitro-L-arginine methyl ester and either clotrimazole or 18alpha-glycyrrhetinic acid completely inhibited relaxation responses in wild-type tissues. Both low and high dose folic acid increased plasma folate, reduced total plasma homocysteine and reversed endothelial dysfunction in heterozygous mice. A greater increase in plasma folate in the high dose group was accompanied by a more significant effect on endothelial function. In the presence of N(G)-nitro-L-arginine methyl ester, a significant residual relaxation response was evident in tissues from low and high dose folic acid treated heterozygous mice. These data suggest that the impaired mesenteric relaxation in heterozygous mice is largely due to loss of the non-nitric oxide/non-prostanoid component. While low dose folic acid may restore this response in a homocysteine-dependent manner, the higher dose has an additional effect on nitric oxide-mediated relaxation that would appear to be independent of

The Populus superoxide dismutase gene family and its responses to drought stress in transgenic poplar overexpressing a pine cytosolic glutamine synthetase (GS1a.

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Juan Jesús Molina-Rueda

Full Text Available BACKGROUND: Glutamine synthetase (GS plays a central role in plant nitrogen assimilation, a process intimately linked to soil water availability. We previously showed that hybrid poplar (Populus tremula X alba, INRA 717-1B4 expressing ectopically a pine cytosolic glutamine synthetase gene (GS1a display enhanced tolerance to drought. Preliminary transcriptome profiling revealed that during drought, members of the superoxide dismutase (SOD family were reciprocally regulated in GS poplar when compared with the wild-type control, in all tissues examined. SOD was the only gene family found to exhibit such patterns. RESULTS: In silico analysis of the Populus genome identified 12 SOD genes and two genes encoding copper chaperones for SOD (CCSs. The poplar SODs form three phylogenetic clusters in accordance with their distinct metal co-factor requirements and gene structure. Nearly all poplar SODs and CCSs are present in duplicate derived from whole genome duplication, in sharp contrast to their predominantly single-copy Arabidopsis orthologs. Drought stress triggered plant-wide down-regulation of the plastidic copper SODs (CSDs, with concomitant up-regulation of plastidic iron SODs (FSDs in GS poplar relative to the wild type; this was confirmed at the activity level. We also found evidence for coordinated down-regulation of other copper proteins, including plastidic CCSs and polyphenol oxidases, in GS poplar under drought conditions. CONCLUSIONS: Both gene duplication and expression divergence have contributed to the expansion and transcriptional diversity of the Populus SOD/CCS families. Coordinated down-regulation of major copper proteins in drought-tolerant GS poplars supports the copper cofactor economy model where copper supply is preferentially allocated for plastocyanins to sustain photosynthesis during drought. Our results also extend previous findings on the compensatory regulation between chloroplastic CSDs and FSDs, and suggest that this

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.

OpenAIRE

Engelhardt, Karin R; Xu, Yaobo; Grainger, Angela; Germani Batacchi, Mila G C; Swan, David J; Willet, Joseph D P; Abd Hamid, Intan J; Agyeman, Philipp; Barge, Dawn; Bibi, Shahnaz; Jenkins, Lucy; Flood, Terence J; Abinun, Mario; Slatter, Mary A; Gennery, Andrew R

2017-01-01

Purpose We aimed to achieve a retrospective molecular diagnosis by applying state-of-the-art genomic sequencing methods to past patients with T-B+NK+ severe combined immunodeficiency (SCID). We included identification of copy number variations (CNVs) by whole exome sequencing (WES) using the CNV calling method ExomeDepth to detect gene alterations for which routine Sanger sequencing analysis is not suitable, such as large heterozygous deletions. Methods Of a total of 12 undiagnosed patients w...

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.

Science.gov (United States)

Schrank, Bertold; Schoser, Benedikt; Klopstock, Thomas; Schneiderat, Peter; Horvath, Rita; Abicht, Angela; Holinski-Feder, Elke; Augustis, Sarunas

2017-05-01

We report a 36-year-old female having lifetime exercise intolerance and lactic acidosis with nausea associated with novel compound heterozygous Acyl-CoA dehydrogenase 9 gene (ACAD9) mutations (p.Ala390Thr and p.Arg518Cys). ACAD9 is an assembly factor for the mitochondrial respiratory chain complex I. ACAD9 mutations are recognized as frequent causes of complex I deficiency. Our patient presented with exercise intolerance, rapid fatigue, and nausea since early childhood. Mild physical workload provoked the occurrence of nausea and vomiting repeatedly. Her neurological examination, laboratory findings and muscle biopsy demonstrated no abnormalities. A bicycle spiroergometry provoked significant lactic acidosis during and following exercise pointing towards a mitochondrial disorder. Subsequently, the analysis of respiratory chain enzyme activities in muscle revealed severe isolated complex I deficiency. Candidate gene sequencing revealed two novel heterozygous ACAD9 mutations. This patient report expands the mutational and phenotypic spectrum of diseases associated with mutations in ACAD9. Copyright © 2017 Elsevier B.V. All rights reserved.

Changes in photosynthesis, mesophyll conductance to CO2, and isoprenoid emissions in Populus nigra plants exposed to excess nickel

International Nuclear Information System (INIS)

Velikova, Violeta; Tsonev, Tsonko; Loreto, Francesco; Centritto, Mauro

2011-01-01

Poplar (Populus nigra) plants were grown hydroponically with 30 and 200 μM Ni (Ni 30 and Ni 200 ). Photosynthesis limitations and isoprenoid emissions were investigated in two leaf types (mature and developing). Ni stress significantly decreased photosynthesis, and this effect depended on the leaf Ni content, which was lower in mature than in developing leaves. The main limitations to photosynthesis were attributed to mesophyll conductance and metabolism impairment. In Ni-stressed developing leaves, isoprene emission was significantly stimulated. We attribute such stimulation to the lower chloroplastic [CO 2 ] than in control leaves. However chloroplastic [CO 2 ] did not control isoprene emission in mature leaves. Ni stress induced the emission of cis-β-ocimene in mature leaves, and of linalool in both leaf types. Induced biosynthesis and emission of isoprenoids reveal the onset of antioxidant processes that may also contribute to reduce Ni stress, especially in mature poplar leaves. - Graphical abstract: Visible damage caused by Ni treatment. 1 - Ni 0 (control plants); 2 - Ni 200 ; M = mature and D = developing Populus nigra leaves. Display Omitted Highlights: → We study the effect of Ni pollution on photosynthesis and isoprenoid emissions. → Ni stress significantly decreases photosynthesis. The main limitations are attributed to mesophyll conductance and metabolism impairment. → Constitutive isoprene emission was significantly stimulated in Ni-stressed leaves. Exposure to enhanced Ni concentration induces cis-beta-ocimene and linalool emissions. - The study reveals consequences of Ni stress on plant physiology, namely increasing diffusional limitation to photosynthesis and isoprenoid emissions.

Scale dependence of disease impacts on quaking aspen (Populus tremuloides) mortality in the southwestern United States

Science.gov (United States)

Bell, David M.; Bradford, John B.; Lauenroth, William K.

2015-01-01

Depending on how disease impacts tree exposure to risk, both the prevalence of disease and disease effects on survival may contribute to patterns of mortality risk across a species' range. Disease may accelerate tree species' declines in response to global change factors, such as drought, biotic interactions, such as competition, or functional traits, such as allometry. To assess the role of disease in mediating mortality risk in quaking aspen (Populus tremuloides), we developed hierarchical Bayesian models for both disease prevalence in live aspen stems and the resulting survival rates of healthy and diseased aspen near the species' southern range limit using 5088 individual trees on 281 United States Forest Service Forest Inventory and Analysis plots in the southwestern United States.

Extensive transcriptome changes during natural onset and release of vegetative bud dormancy in Populus

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Glenn Thomas Howe

2015-12-01

Full Text Available To survive winter, many perennial plants become endodormant, a state of suspended growth maintained even in favorable growing environments. To understand vegetative bud endodormancy, we collected paradormant, endodormant, and ecodormant axillary buds from Populus trees growing under natural conditions. Of 44,441 Populus gene models analyzed using NimbleGen microarrays, we found that 1,362 (3.1% were differentially expressed among the three dormancy states, and another 429 (1.0% were differentially expressed during only one of the two dormancy transitions (false discovery rate p-value < 0.05. Of all differentially expressed genes, 69% were down-regulated from paradormancy to endodormancy, which was expected given the lower metabolic activity associated with endodormancy. Dormancy transitions were accompanied by changes in multiple genes associated with DNA methylation (via RNA-directed DNA methylation and histone modifications (via Polycomb Repressive Complex 2, confirming and extending knowledge of chromatin modification as major features of dormancy transitions. Among the chromatin-associated genes, we found two genes similar to SPT (SUPPRESSOR OF TY that were strongly up-regulated during endodormancy. Transcription factor genes and gene sets that were atypically up-regulated during endodormancy include a gene that seems to encode a trihelix transcription factor and genes associated with proteins involved in responses to ethylene, cold, and other abiotic stresses. These latter transcription factors include ETHYLENE INSENSITIVE 3 (EIN3, ETHYLENE-RESPONSIVE ELEMENT BINDING PROTEIN (EBP, ETHYLENE RESPONSE FACTOR (ERF, ZINC FINGER PROTEIN 10 (ZAT10, ZAT12, and WRKY DNA-binding domain proteins. Analyses of phytohormone-associated genes suggest important changes in responses to ethylene, auxin, and brassinosteroids occur during endodormancy. We found weaker evidence for changes in genes associated with salicylic acid and jasmonic acid, and little

Comprehensive behavioral analysis of RNG105 (Caprin1) heterozygous mice: Reduced social interaction and attenuated response to novelty

Science.gov (United States)

Ohashi, Rie; Takao, Keizo; Miyakawa, Tsuyoshi; Shiina, Nobuyuki

2016-01-01

RNG105 (also known as Caprin1) is a major RNA-binding protein in neuronal RNA granules, and is responsible for mRNA transport to dendrites and neuronal network formation. A recent study reported that a heterozygous mutation in the Rng105 gene was found in an autism spectrum disorder (ASD) patient, but it remains unclear whether there is a causal relation between RNG105 deficiency and ASD. Here, we subjected Rng105+/− mice to a comprehensive behavioral test battery, and revealed the influence of RNG105 deficiency on mouse behavior. Rng105+/− mice exhibited a reduced sociality in a home cage and a weak preference for social novelty. Consistently, the Rng105+/− mice also showed a weak preference for novel objects and novel place patterns. Furthermore, although the Rng105+/− mice exhibited normal memory acquisition, they tended to have relative difficulty in reversal learning in the spatial reference tasks. These findings suggest that the RNG105 heterozygous knockout leads to a reduction in sociality, response to novelty and flexibility in learning, which are implicated in ASD-like behavior. PMID:26865403

Heterozygous inactivation of tsc2 enhances tumorigenesis in p53 mutant zebrafish

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Seok-Hyung Kim

2013-07-01

Tuberous sclerosis complex (TSC is a multi-organ disorder caused by mutations of the TSC1 or TSC2 genes. A key function of these genes is to inhibit mTORC1 (mechanistic target of rapamycin complex 1 kinase signaling. Cells deficient for TSC1 or TSC2 have increased mTORC1 signaling and give rise to benign tumors, although, as a rule, true malignancies are rarely seen. In contrast, other disorders with increased mTOR signaling typically have overt malignancies. A better understanding of genetic mechanisms that govern the transformation of benign cells to malignant ones is crucial to understand cancer pathogenesis. We generated a zebrafish model of TSC and cancer progression by placing a heterozygous mutation of the tsc2 gene in a p53 mutant background. Unlike tsc2 heterozygous mutant zebrafish, which never exhibited cancers, compound tsc2;p53 mutants had malignant tumors in multiple organs. Tumorigenesis was enhanced compared with p53 mutant zebrafish. p53 mutants also had increased mTORC1 signaling that was further enhanced in tsc2;p53 compound mutants. We found increased expression of Hif1-α, Hif2-α and Vegf-c in tsc2;p53 compound mutant zebrafish compared with p53 mutant zebrafish. Expression of these proteins probably underlies the increased angiogenesis seen in compound mutant zebrafish compared with p53 mutants and might further drive cancer progression. Treatment of p53 and compound mutant zebrafish with the mTORC1 inhibitor rapamycin caused rapid shrinkage of tumor size and decreased caliber of tumor-associated blood vessels. This is the first report using an animal model to show interactions between tsc2, mTORC1 and p53 during tumorigenesis. These results might explain why individuals with TSC rarely have malignant tumors, but also suggest that cancer arising in individuals without TSC might be influenced by the status of TSC1 and/or TSC2 mutations and be potentially treatable with mTORC1 inhibitors.

Light-regulated leaf expansion in two Populus species: dependence on developmentally controlled ion transport.

Science.gov (United States)

Stiles, Kari A; Van Volkenburgh, Elizabeth

2002-07-01

Leaf growth responses to light have been compared in two species of Populus, P. deltoides and P. trichocarpa. These species differ markedly in morphology, anatomy, and dependence on light during leaf expansion. Light stimulates the growth rate and acidification of cell walls in P. trichocarpa but not in P. deltoides, whereas leaves of P. deltoides maintain growth in the dark. Light-induced growth is promoted in P. deltoides when cells are provided 50-100 mM KCl. In both species, light initially depolarizes, then hyperpolarizes mesophyll plasma membranes. However, in the dark, the resting E(m) of mesophyll cells in P. deltoides, but not in P. trichocarpa, is relatively insensitive to decade changes in external [K+]. Results suggest that light-stimulated leaf growth depends on developmentally regulated cellular mechanisms controlling ion fluxes across the plasma membrane. These developmental differences underlie species-level differences in growth and physiological responses to the photoenvironment.

Effects of Soil Fertility and Atmospheric CO2 Enrichment on Leaf,Stem and Root Dark Respiration of Populus tremuloides

Institute of Scientific and Technical Information of China (English)

X.Z.WANG; P.S.CURTIS; 等

2001-01-01

An open-top chamber experiment was conducted at the University of Michigan Biological Station near Pellston,Michigan,USA,to study the effects of soil fertility and CO2 on leaf,sdtem and root dark respiration (Rd) of Populus tremuloides.Overall,area-based daytime leaf Rd(Rda) was significantly greater at elevated than at ambient CO2 in high-fertility soil,but not in low-fertility soil.Mass-based leaf Rd(Rdm) was overall greater for high-than for low-fertility soil grown trees at elevated,but not at ambient CO2 .Nighttime leaf Rda and Rdm were unaffected by soil fertility or CO2,nor was stem Rda ,which ranged from 1.0 to 1.4μmol m-2s-1 in the spring and 3.5 to 4.5μmol m-2s-1 in the summer.Root Rda was significantly higher in high-than in low-fertiliy soil,but was unaffected by CO2.Since biomass production of P.tremuloides will be significantly greater at elevated CO2 while specific Rd will either increase or remain unchanged,we predict that carbon loss to the atmosphere through respiration from this ecologically important species would increase at higher CO2.Soil fertility would also interact with elevated CO2 in affecting the carbon flow in the plant-soil-air system.

Effects of Soil Fertility and Atmospheric CO2 Enrichment on Leaf, Stem and Root Dark Respiration of Populus tremuloides

Institute of Scientific and Technical Information of China (English)

无

2001-01-01

An open-top chamber experiment was conducted at the University of Michigan Biological Station near Pellston, Michigan, USA, to study the effects of soil fertility and CO2 on leaf, stem and root dark respiration (Rd) of Populus tremuloides. Overall, area-based daytime leaf Rd (Rda) was significantly greater at elevated than at ambient CO2 in high-fertility soil, but not in low-fertility soil. Mass-based leaf Rd (Rdm) was overall greater for high- than for low-fertility soil grown trees at elevated, but not at ambient CO2. Nighttime leaf Rda and Rdm were unaffected by soil fertility or CO2, nor was stem Rda, which ranged from 1.0 to 1.4 μmol m-2 s-1 in the spring and 3.5 to 4.5 μmol m-2 s-1 in the summer. Root Rda was significantly higher in high- than in low-fertility soil, but was unaffected by CO2. Since biomass production of P. tremuloides will be significantly greater at elevated CO2 while specific Rd will either increase or remain unchanged, we predict that carbon loss to the atmosphere through respiration from this ecologically important species would increase at higher CO2. Soil fertility would also interact with elevated CO2 in affecting the carbon flow in the plant-soil-air system.

Genome-wide patterns of differentiation and spatially varying selection between postglacial recolonization lineages of Populus alba (Salicaceae), a widespread forest tree.

Science.gov (United States)

Stölting, Kai N; Paris, Margot; Meier, Cécile; Heinze, Berthold; Castiglione, Stefano; Bartha, Denes; Lexer, Christian

2015-08-01

Studying the divergence continuum in plants is relevant to fundamental and applied biology because of the potential to reveal functionally important genetic variation. In this context, whole-genome sequencing (WGS) provides the necessary rigour for uncovering footprints of selection. We resequenced populations of two divergent phylogeographic lineages of Populus alba (n = 48), thoroughly characterized by microsatellites (n = 317), and scanned their genomes for regions of unusually high allelic differentiation and reduced diversity using > 1.7 million single nucleotide polymorphisms (SNPs) from WGS. Results were confirmed by Sanger sequencing. On average, 9134 high-differentiation (≥ 4 standard deviations) outlier SNPs were uncovered between populations, 848 of which were shared by ≥ three replicate comparisons. Annotation revealed that 545 of these were located in 437 predicted genes. Twelve percent of differentiation outlier genome regions exhibited significantly reduced genetic diversity. Gene ontology (GO) searches were successful for 327 high-differentiation genes, and these were enriched for 63 GO terms. Our results provide a snapshot of the roles of 'hard selective sweeps' vs divergent selection of standing genetic variation in distinct postglacial recolonization lineages of P. alba. Thus, this study adds to our understanding of the mechanisms responsible for the origin of functionally relevant variation in temperate trees. © 2015 The Authors. New Phytologist © 2015 New Phytologist Trust.

Effects of progressive soil water deficit on growth, and physiological and biochemical responses of populus euphratica in arid area: a case study in China

International Nuclear Information System (INIS)

Yang, Y.; Chen, Y.; Li, W.; Zhu, C.

2015-01-01

The aim of this study was to investigate the responses of Populus euphratica seedlings under a short-term soil water deficit. To mimic natural conditions in which drought stress develops gradually, stress was imposed by subjecting plants to a gradual decrease of soil water content for a period of 21 d. We studied growth, physiological and biochemical responses to progressive soil water deficit of potted Populus euphratica seedlings at outdoors. Results showed that, in 6 d of water withholding, the soil moisture content decreased to a slight drought stress level, and it reached a severe drought stress level after 15 d of water withholding in July. In the process of soil water declining from saturated to severe drought levels, the increasing soil water deficit resulted in decreases in the height, stem base diameter, number of lateral branches. Leaf predawn water potential decreased after 15 d of withholding irrigation. After 21 d of withholding irrigation, actual photochemical efficiency of photosystem II (PSII) in light-adapted leaves and photochemical quenching coefficient decreased, respectively; the peroxidase activity, the content of chlorophyll a and chlorophyll b decreased. There were no significant changes in proline, malondialdehyde content, chlorophyll a/b value and superoxide dismutase activity. (author)

Eucalyptus and Populus short rotation woody crops for phosphate mined lands in Florida USA

Energy Technology Data Exchange (ETDEWEB)

Rockwood, D L; Carter, D R; Langholtz, M H [The School of Forest Resources and Conservation, University of Florida, Box 110410, Gainesville, FL 32611 0410 (United States); Stricker, J A [Polk County Extension Service, University of Florida, Gainesville, FL 32611 (United States)

2006-08-15

Our short-rotation woody crops (SRWC) research in central and southern Florida is (1) developing superior Eucalyptus grandis (EG), E. amplifolia (EA), and cottonwood (Populus deltoides, PD) genotypes, (2) determining appropriate management practices for and associated productivities of these genotypes, and (3) assessing their economics and markets. Reclaimed clay settling areas (CSA) and overburden sites in phosphate mined areas in central Florida are a potential land base of over 80,000ha for SRWC production. On CSAs, PD grows well in the absence of cogongrass (Imperata cylindrica) but is not as productive as the non-invasive EG and EA. SRWC establishment on CSAs requires strict implementation of the following cultural practices: thorough site preparation through herbiciding/disking and bedding, superior trees, watering/packing seedlings, fertilization with ammonium nitrate at planting and annually thereafter as feasible, high planting density possibly including double row planting, and winter harvesting so that coppice regeneration suppresses weeds. PD cultural requirements, that may require post-planting weed control to suppress herbaceous competition, exceed those of the eucalypts. EG SRWCs on CSAs are at risk of blowdown 3-4 years after planting or coppicing; younger PD, EG, and EA SRWCs appear much less susceptible to wind damage. Genetic improvement must continue if EG, EA, and PD are to increase in commercial feasibility. SRWC cost competitiveness will depend on establishment success, yield improvements, harvesting costs, and identifying/using incentives. Strong collaboration among public and private partners is necessary for commercializing SRWCs in Florida. (author)

Evaluation of two hybrid poplar clones as constructed wetland plant species for treating saline water high in boron and selenium, or waters only high in boron

Science.gov (United States)

Wetland mesocosms were constructed to assess two salt- and B-tolerant hybrid poplar clones (Populus trichocarpa ×P. deltoides×P. nigra '345-1' and '347-14') for treating saline water high in boron (B) and selenium (Se). In addition, a hydroponic experiment was performed to test the B tolerance and B...

Changes in photosynthesis, mesophyll conductance to CO{sub 2}, and isoprenoid emissions in Populus nigra plants exposed to excess nickel

Energy Technology Data Exchange (ETDEWEB)

Velikova, Violeta, E-mail: violet@obzor.bio21.bas.bg [Bulgarian Academy of Sciences, Acad. M. Popov Institute of Plant Physiology, Acad. G. Bonchev, Bl. 21, 1113 Sofia (Bulgaria); Tsonev, Tsonko [Bulgarian Academy of Sciences, Acad. M. Popov Institute of Plant Physiology, Acad. G. Bonchev, Bl. 21, 1113 Sofia (Bulgaria); Loreto, Francesco [Consiglio Nazionale delle Ricerche, Istituto per la Protezione delle Piante, Via Madonna del Piano 10, 50019 Sesto Fiorentino, Firenze (Italy); Centritto, Mauro [Consiglio Nazionale delle Ricerche, Istituto di Biologia Agroambientale e Forestale, 00015 Monterotondo Scalo (RM) (Italy)

2011-05-15

Poplar (Populus nigra) plants were grown hydroponically with 30 and 200 {mu}M Ni (Ni{sub 30} and Ni{sub 200}). Photosynthesis limitations and isoprenoid emissions were investigated in two leaf types (mature and developing). Ni stress significantly decreased photosynthesis, and this effect depended on the leaf Ni content, which was lower in mature than in developing leaves. The main limitations to photosynthesis were attributed to mesophyll conductance and metabolism impairment. In Ni-stressed developing leaves, isoprene emission was significantly stimulated. We attribute such stimulation to the lower chloroplastic [CO{sub 2}] than in control leaves. However chloroplastic [CO{sub 2}] did not control isoprene emission in mature leaves. Ni stress induced the emission of cis-{beta}-ocimene in mature leaves, and of linalool in both leaf types. Induced biosynthesis and emission of isoprenoids reveal the onset of antioxidant processes that may also contribute to reduce Ni stress, especially in mature poplar leaves. - Graphical abstract: Visible damage caused by Ni treatment. 1 - Ni{sub 0} (control plants); 2 - Ni{sub 200}; M = mature and D = developing Populus nigra leaves. Display Omitted Highlights: > We study the effect of Ni pollution on photosynthesis and isoprenoid emissions. > Ni stress significantly decreases photosynthesis. The main limitations are attributed to mesophyll conductance and metabolism impairment. > Constitutive isoprene emission was significantly stimulated in Ni-stressed leaves. Exposure to enhanced Ni concentration induces cis-beta-ocimene and linalool emissions. - The study reveals consequences of Ni stress on plant physiology, namely increasing diffusional limitation to photosynthesis and isoprenoid emissions.

Metabonomic study of the biochemical profiles of heterozygous myostatin knockout swine

Directory of Open Access Journals (Sweden)

Jianxiang XU,Dengke PAN,Jie ZHAO,Jianwu WANG,Xiaohong HE,Yuehui MA,Ning LI

2015-03-01

Full Text Available Myostatin is a transforming growth factor-β family member that normally acts to limit skeletal muscle growth. Myostatin gene (MSTN knockout (KO mice show possible effects for the prevention or treatment of metabolic disorders such as obesity and type 2 diabetes. We applied chromatography and mass spectrometry based metabonomics to assess system-wide metabolic response of heterozygous MSTN KO (MSTN+/- swine. Most of the metabolic data for MSTN+/- swine were similar to the data for wild type (WT control swine. There were, however, metabolic changes related to fatty acid metabolism, glucose utilization, lipid metabolism, as well as BCAA catabolism caused by monoallelic MSTN depletion.The statistical analyses suggested that: (1 most metabolic changes were not significant in MSTN+/- swine compared to WT swine; (2 only a few metabolic properties were significantly different between KO and WT swine, especially for lipid metabolism. Significantly, these minor changes were most evident in female KO swine and suggested differences in gender sensitivity to myostatin.

Prickly pear induces upregulation of liver LDL binding in familial heterozygous hypercholesterolemia

International Nuclear Information System (INIS)

Palumbo, B.; Palumbo, R.; Efthimiou, Y.; Stamatopoulos, J.; Sinzinger, H.; Oguogho, A.; Budinsky, A.; Sinzinger, H.

2003-01-01

The hypoglycemic effect of prickly pear is well known by native local Indian population since a long time. Beside the beneficial effects on lipid metabolism, oxidation injury and platelet function has been claimed in experimental animals. We recently found an upregulation of apo-B/E receptor. We therefore examined 10 patients with isolated heterozygous familial hypercholesterolemia (FH) being enrolled in a dietary run-in phase of 6 weeks after dietary counselling and a further 6 weeks of prickly pear addition. Uptake of autologous 123 I-radiolabeled LDL was determined at entry as well as after 6 weeks of daily prickly pear ingestion. We found a significant (p 176.4 mg/dl; p 123 I-LDL binding by prickly pear in FH-patients in vivo and indicate that prickly pear exerts a significant hypolipidemic action via receptor upregulation. (author)

Black poplar-tree (Populus nigra L.) bark as an alternative indicator of urban air pollution by chemical elements

International Nuclear Information System (INIS)

Berlizov, A.N.; Malyuk, I.A.; Tryshyn, V.V.

2008-01-01

Capabilities of black poplar-tree (Populus nigra L.) bark as a biomonitor of atmospheric air pollution by chemical elements were tested against epiphytic lichens Xanthoria parietina (L.) and Physcia adscendens (Fr.). Concentrations of 40 macro and trace elements were determined using epicadmium and instrumental NAA. The data obtained were processed using non-parametric tests. A good correlation was found between concentrations of majority of elements in bark and lichens. On the accumulation capability bark turned out to be competitive with both lichens examined. The main inorganic components of black poplar-tree bark were revealed. A substrate influence on the concentrations of some elements in epiphytic lichens was established. An optimized procedure of bark pre-irradiation treatment was suggested. (author)

A novel heterozygous mutation in the STAT1 SH2 domain causes chronic mucocutaneous candidiasis, atypically diverse infections, autoimmunity, and impaired cytokine regulation

NARCIS (Netherlands)

K. Meesilpavikkai (Kornvalee); W.A. Dik (Willem); B. Schrijver (Benjamin); N.M. Nagtzaam (Nicole); A.L. Rijswijk (Angelique); G.J.A. Driessen (Gertjan); P.J. van der Spek (Peter); P.M. van Hagen (Martin); V.A.S.H. Dalm (Virgil)

2017-01-01

textabstractChronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency characterized by persistent or recurrent skin and mucosal surface infections with Candida species. Different gene mutations leading to CMC have been identified. These include various heterozygous gain-of-function (GOF)

Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?

Science.gov (United States)

Tekin, M; Bodurtha, J N; Nance, W E; Pandya, A

2001-10-01

Klein-Waardenburg syndrome or Waardenburg syndrome type 3 (WS-III; MIM 148820) is characterized by the presence of musculoskeletal abnormalities in association with clinical features of Waardenburg syndrome type 1 (WS-I). Since the description of the first patient in 1947 (D. Klein, Arch Klaus Stift Vererb Forsch 1947: 22: 336-342), a few cases have been reported. Only occasional families have demonstrated autosomal-dominant inheritance of WS-III. In a previous report, a missense mutation in the paired domain of the PAX3 gene has been described in a family with dominant segregation of WS-III. In this report, we present a second family (mother and son) with typical clinical findings of WS-III segregating with a heterozygous 13-bp deletion in the paired domain of the PAX3 gene. Although homozygosity or compound heterozygosity has also been documented in patients with severe limb involvement, a consistent genotype-phenotype correlation for limb abnormalities associated with heterozygous PAX3 mutations has not previously been apparent. Heterozygous mutations could either reflect a unique dominant-negative effect or possibly the contribution of other unlinked genetic modifiers in determining the phenotype.

Comparative Physiological and Proteomic Analysis Reveals the Leaf Response to Cadmium-Induced Stress in Poplar (Populus yunnanensis.

Directory of Open Access Journals (Sweden)

Yunqiang Yang

Full Text Available Excess amounts of heavy metals are important environmental pollutants with significant ecological and nutritional effects. Cdmium (Cd is of particular concern because of its widespread occurrence and high toxicity. We conducted physiological and proteomic analyses to improve our understanding of the responses of Populus yunnanensis to Cd stress. The plantlets experienced two apparent stages in their response to Cd stress. During the first stage, transiently induced defense-response molecules, photosynthesis- and energy-associated proteins, antioxidant enzymes and heat shock proteins (HSPs accumulated to enhance protein stability and establish a new cellular homeostasis. This activity explains why plant photosynthetic capability during this period barely changed. During the second stage, a decline of ribulose-1, 5-bisphosphate carboxylase (RuBisCO and HSP levels led to imbalance of the plant photosynthetic system. Additionally, the expression of Mitogen-activated protein kinase 3 (MPK3, Mitogen-activated protein kinase 6 (MPK6 and a homeobox-leucine zipper protein was higher in the second stage. Higher expression of caffeoyl-CoA O-methyltransferase (CCoAOMT may regulate plant cell wall synthesis for greater Cd storage. These genes may be candidates for further research and use in genetic manipulation of poplar tolerance to Cd stress.

In-situ reduced silver nanoparticles on populus fiber and the catalytic application

Energy Technology Data Exchange (ETDEWEB)

Li, Miaomiao; Gong, Yumei, E-mail: ymgong@dlpu.edu.cn; Wang, Wenheng; Xu, Guangpeng; Liu, Yuanfa; Guo, Jing, E-mail: guojing8161@163.com

2017-02-01

Highlights: • A composite involved in in-situ chelating AgNPs on natural cellulose was prepared. • Polyamidoxime grafted from the cellulose adsorbed Ag+ which was reduced to AgNPs. • The composite exhibits excellent catalytic activity in reducing 4-nitrophenol. - Abstract: One kind of composites involved in silver nanoparticles (AgNPs) loading in-situ on natural populus fiber (PF) matrix was prepared by polyamidoxime (PAO) functionalized the cellulose fiber. In which PAO worked as trapping and stabilizing agents chelating silver ions and made it reduced in-situ to obtain AgNPs by borohydride at room temperature. The synthesized composites were characterized by X-ray diffraction (XRD), Fourier transform infrared spectroscopy (FT-IR), thermogravimetric analysis (TGA) and scanning electron microscopy (SEM). Moreover, the composites showed significant catalytic activity 1.87 s{sup −1} g{sup −1} and repeated usability more than 7 cycles in reducing 4-nitrophenol (4-NP) into 4-aminophenol (4-AP) detected by UV–vis spectrophotometer in aqueous solution due to the surface-enhanced immobility and large amount of AgNPs. The natural cellulose fiber provides a green platform to react and support other noble metals for wide catalytic reactions.

Two novel mutations in exon 3 and 4 of low density lipoprotein (LDL) receptor gene in patients with heterozygous familial hypercholesterolemia

International Nuclear Information System (INIS)

Khan, S.P.

2011-01-01

Objective: To determine the common mutation of low density lipoprotein receptor in hypercholesterolemia patients requiring screening for heterozygous familial hypercholesterolemia (HeFH) in Karachi. Study Design: Case-series. Place and Duration of Study: Dr. Ziauddin Hospital Laboratory and Dr. Rubina Ghani's Pathological and Molecular Laboratories, Karachi, for the PCR bench work from June 2008 to October 2009. Methodology: All the patients selected for this study were from Dr. Ziauddin Hospital and National Institute of Cardiovascular Diseases. All the patients having high total cholesterol and LDL-cholesterol were included in this study with premature coronary artery diseases or a family history of hypercholesterolemia. Exclusion criteria included Diabetes mellitus, hypertension, renal disease, hypothyroidism and steroid therapy. After lipid profile with overnight fasting, DNA was extracted from whole blood collected in EDTA (ethylenediamine tetra acetic acid) tube and multiplex PCR (polymerase chain reaction) using forward and reverse primers of exons 3, 4, 9 and 14 of base pairs 162, 431, 550 and 496 respectively. Results: Out of total of 120 hypercholesterolemia cases, 42 patients were classical cases of HeFH (heterozygous familial hypercholesterolemia) with xanthomas, xanthelasmas and LDL-C > 160 mg/dl. The total cholesterol (260 +- 57 mg/dL) and LDL-C (192 +- 39 mg/dL ) of cases was significantly high as compared to, controls having total cholesterol (184 9 +- 27 mg/dL) and LDL-C (105 +- 22 mg/dL), p > 0.001. Two novel point mutations were noted in exon 3 and exon 4. The other 78 cases were probable with raised LDL-C (low density lipoprotein cholesterol) and family history of premature coronary heart diseases. Conclusion: The frequency of HeFH was 35% classical and 65% probable cases out of total 120 hypercholesterolemia patients from two tertiary care hospitals in Karachi. The point mutation on exon 3 and exon 4 of LDLR gene was the most common. PCR is

R353Q polymorphism in the factor VII gene and cardiovascular risk in Heterozygous Familial Hypercholesterolemia: a case-control study.

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Criado-García, Juan; Fuentes, Francisco; Cruz-Teno, Cristina; García-Rios, Antonio; Jiménez-Morales, Anabel; Delgado-Lista, Javier; Mata, Pedro; Alonso, Rodrigo; López-Miranda, José; Pérez-Jiménez, Francisco

2011-04-09

Heterozygous Familial Hypercholesterolemia (FH) is a genetic disorder characterized by a high risk of cardiovascular disease. Certain polymorphisms of the factor VII gene have been associated with the development of coronary artery disease and there is a known association between factor VII levels and polymorphic variants in this gene. To date, no study has evaluated the association between factor VII and coronary artery disease in patients with FH. This case-control study comprised 720 patients (546 with FH and 174 controls). We determined the prevalence and allele frequencies of the R353Q polymorphism of factor VII, the plasma levels of factor VII antigen (FVII Ag) and whether they could be predictive factors for cardiovascular risk. 75% (410) of the patients with FH were RR, 23% (127) RQ and 1.6% (9) QQ; in the control group 75.3% (131) were RR, 21.3% (37) RQ and 3.4% (6) QQ (p = 0.32). No statistically significant associations were observed in the distribution of genotypes and allele frequencies between case (FH) and control groups. Nor did we find differences when we evaluated the relationship between the R353Q polymorphism and cardiovascular risk (including coronary disease, ischemic stroke and peripheral arterial disease), either in the univariate analysis or after adjustment for sex, age, arterial hypertension, body mass index, xanthomas, diabetes, smoking, HDLc and LDLc and lipid-lowering treatment. The FVII Ag concentrations behaved in a similar fashion, with no differences for the interaction between controls and those with FH (RR vs. RQ/QQ; p = 0.96). In the subgroup of patients with FH no association was found among cardiovascular disease, genotype and FVII Ag levels (RR vs. RQ/QQ; p = 0.97). Our study did not find a direct relationship between cardiovascular risk in patients with Heterozygous Familial Hypercholesterolemia, the R353Q polymorphism of factor VII and FVII Ag levels.

Group Self-Definitions and Religious Collectivities in the 16th Book of the Theodosian Code. Notes on the Term coetus (with a Preliminary Analysis of populus

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Alessandro Saggioro

2015-06-01

Full Text Available This essay starts from the well-known definition of populus as well as it appears in some Cicero’s works and aims at analyze the religious significance of coetus, a term strictly connected with the first, at least focusing on the 16th book of the Theodosian Code. This article intends to cast light some transformations and representations of religious groups between Constantinian and Post-Constantinian ages.

Flow regime effects on mature Populus fremontii (Fremont cottonwood) productivity on two contrasting dryland river floodplains

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Andersen, Douglas C.

2016-01-01

I compared riparian cottonwood (Populus fremontii) productivity-discharge relationships in a relictual stand along the highly regulated Green River and in a naturally functioning stand along the unregulated Yampa River in semiarid northwest Colorado. I used multiple regression to model flow effects on annual basal area increment (BAI) from 1982 to 2011, after removing any autocorrelation present. Each BAI series was developed from 20 trees whose mean size (67 cm diameter at breast height [DBH]) was equivalent in the two stands. BAI was larger in the Yampa River stand except in 2 y when defoliating leaf beetles were present there. I found no evidence for a Yampa flood-magnitude threshold above which BAI declined. Flow variables explained ∼45% of residual BAI variability, with most explained by current-year maximum 90-d discharge (QM90) in the Yampa River stand and by a measure of the year-to-year change in QM90 in the Green River stand. The latter reflects a management-imposed ceiling on flood magnitude—Flaming Gorge Dam power plant capacity—infrequently exceeded during the study period. BAI in the relictual stand began to trend upward in 1992 when flows started to mimic a natural flow regime. Mature Fremont cottonwoods appear to be ecologically resilient. Their productivity along regulated rivers might be optimized using multiyear environmental flow designs.

A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.

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Nemcikova, Michaela; Vejvalkova, Sarka; Fencl, Filip; Sukova, Martina; Krepelova, Anna

2016-04-01

Noonan syndrome (NS) is a genetic condition presenting with typical facies, cardiac defects, short stature, variable developmental deficit, cryptorchidism, skeletal, and other abnormalities. Germline mutations in genes involved in the RAS/MAPK signaling have been discovered to underlie NS. Recently, missense mutations in RIT1 have been reported as causative for individuals with clinical signs of NS. We report on a 2.5-year-old boy with NS phenotype with a novel heterozygous change in the RIT1 gene. The patient was born prematurely from pregnancy monitored for polyhydramnios. At 7 months of age, non-immune neutropenia and splenomegaly have been observed. During the severe pneumonia at 10 months, significant progression of hepatosplenomegaly, leukopenia with monocytosis (15-29 %), and thrombocytopenia occurred. Bone marrow evaluation showed myeloid hyperplasia and monocytosis, suggestive of myeloproliferative syndrome. Clinical phenotype (facial dysmorphism, soft hair, short neck, broad chest, widely spaced nipples, mild pectus carinatum, deep palmar creases, unilateral cryptorchidism), and moderate pulmonary valve stenosis with mild psychomotor delay were indicative of NS. DNA analysis identified a de novo heterozygous variant c.69A >T, p.(Lys23Asn) in exon 2 of the RIT1 gene, presumed to be causative. We present a patient with a clinical suspicion of NS carrying a novel substitution in RIT1 and hematologic findings not being observed in RIT1 positive patients to date. Thus, the case broadens variability of hematologic symptoms in RIT1 positive NS individuals. • Noonan syndrome is a common genetically heterogeneous disorder of autosomal dominant inheritance characterized by craniofacial dysmorphism, short stature, congenital heart defects, variable cognitive deficit, and other anomalies. What is new: • We report on a 2.5-year-old male patient with clinical signs of NS and hematologic abnormalities, in whom a novel heterozygous substitution in RIT1 with probable

The role of water channel proteins in facilitating recovery of leaf hydraulic conductance from water stress in Populus trichocarpa.

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Joan Laur

Full Text Available Gas exchange is constrained by the whole-plant hydraulic conductance (Kplant. Leaves account for an important fraction of Kplant and may therefore represent a major determinant of plant productivity. Leaf hydraulic conductance (Kleaf decreases with increasing water stress, which is due to xylem embolism in leaf veins and/or the properties of the extra-xylary pathway. Water flow through living tissues is facilitated and regulated by water channel proteins called aquaporins (AQPs. Here we assessed changes in the hydraulic conductance of Populus trichocarpa leaves during a dehydration-rewatering episode. While leaves were highly sensitive to drought, Kleaf recovered only 2 hours after plants were rewatered. Recovery of Kleaf was absent when excised leaves were bench-dried and subsequently xylem-perfused with a solution containing AQP inhibitors. We examined the expression patterns of 12 highly expressed AQP genes during a dehydration-rehydration episode to identify isoforms that may be involved in leaf hydraulic adjustments. Among the AQPs tested, several genes encoding tonoplast intrinsic proteins (TIPs showed large increases in expression in rehydrated leaves, suggesting that TIPs contribute to reversing drought-induced reductions in Kleaf. TIPs were localized in xylem parenchyma, consistent with a role in facilitating water exchange between xylem vessels and adjacent living cells. Dye uptake experiments suggested that reversible embolism formation in minor leaf veins contributed to the observed changes in Kleaf.

The role of water channel proteins in facilitating recovery of leaf hydraulic conductance from water stress in Populus trichocarpa.

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Laur, Joan; Hacke, Uwe G

2014-01-01

Gas exchange is constrained by the whole-plant hydraulic conductance (Kplant). Leaves account for an important fraction of Kplant and may therefore represent a major determinant of plant productivity. Leaf hydraulic conductance (Kleaf) decreases with increasing water stress, which is due to xylem embolism in leaf veins and/or the properties of the extra-xylary pathway. Water flow through living tissues is facilitated and regulated by water channel proteins called aquaporins (AQPs). Here we assessed changes in the hydraulic conductance of Populus trichocarpa leaves during a dehydration-rewatering episode. While leaves were highly sensitive to drought, Kleaf recovered only 2 hours after plants were rewatered. Recovery of Kleaf was absent when excised leaves were bench-dried and subsequently xylem-perfused with a solution containing AQP inhibitors. We examined the expression patterns of 12 highly expressed AQP genes during a dehydration-rehydration episode to identify isoforms that may be involved in leaf hydraulic adjustments. Among the AQPs tested, several genes encoding tonoplast intrinsic proteins (TIPs) showed large increases in expression in rehydrated leaves, suggesting that TIPs contribute to reversing drought-induced reductions in Kleaf. TIPs were localized in xylem parenchyma, consistent with a role in facilitating water exchange between xylem vessels and adjacent living cells. Dye uptake experiments suggested that reversible embolism formation in minor leaf veins contributed to the observed changes in Kleaf.

Role of heterozygous APC mutation in niche succession and initiation of colorectal cancer--a computational study.

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Roschen Sasikumar

Full Text Available Mutations in the adenomatous polyposis coli (APC gene are found in most colorectal cancers. They cause constitutive activation of proliferative pathways when both alleles of the gene are mutated. However studies on individuals with familial adenomatous polyposis (FAP have shown that a single mutated APC allele can also create changes in the precancerous colon crypt, like increased number of stem cells, increased crypt fission, greater variability of DNA methylation patterns, and higher somatic mutation rates. In this paper, using a computational model of colon crypt dynamics, we evolve and investigate a hypothesis on the effect of heterozygous APC mutation that explains these different observations. Based on previous reports and the results from the computational model we propose the hypothesis that heterozygous APC mutation has the effect of increasing the chances for a stem cell to divide symmetrically, producing two stem cell daughters. We incorporate this hypothesis into the model and perform simulation experiments to investigate the consequences of the hypothesis. Simulations show that this hypothesis links together the changes in FAP crypts observed in previous studies. The simulations also show that an APC(+/- stem cell gets selective advantages for dominating the crypt and progressing to cancer. This explains why most colon cancers are initiated by APC mutation. The results could have implications for preventing or retarding the onset of colon cancer in people with inherited or acquired mutation of one APC allele. Experimental validation of the hypothesis as well as investigation into the molecular mechanisms of this effect may therefore be worth undertaking.

TLC determination of some flavanones in the buds of different genus Populus species and hybrids

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Pobłocka-Olech Loretta

2018-06-01

Full Text Available Flavonoids in the buds of eight Populus species and hybrids were detected and compared with the aid of an optimized TLC method. Separation of 17 flavonoid aglycones belonging to different groups, namely, flavones, flavonols, flavanones and flavanonols, previously described as constituents of poplar buds, was performed on silica gel plates using a hexane/ethyl acetate/formic acid (60:40:1.3, V/V/V mixture as the mobile phase. Pinocembrin and pinostrobin were found in the majority of analyzed poplar buds. For quantitative analysis of both compounds, two TLC evaluation modes, densitometric and videodensitometric, were compared and the established methods were validated. Concentrations of flavanones in some extracts differed slightly or significantly due to the analyzed plant matrix complexity and the TLC evaluation mode applied. Poplar buds rich in flavanones originated from P. × canadensis ‘Robusta’ (1.82 and 2.23 g per 100 g, resp. and P. balsamifera (1.17 and 2.24 g per 100 g, resp..

Organization and post-transcriptional processing of the psb B operon from chloroplasts of Populus deltoides.

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Dixit, R; Trivedi, P K; Nath, P; Sane, P V

1999-09-01

Chloroplast genes are typically organized into polycistronic transcription units that give rise to complex sets of mono- and oligo-cistronic overlapping RNAs through a series of processing steps. The psbB operon contains genes for the PSII (psbB, psbT, psbH) and cytochrome b(6)f (petB and petD) complexes which are needed in different amounts during chloroplast biogenesis. The functional significance of gene organization in this polycistronic unit, containing information for two different complexes, is not known and is of interest. To determine the organization and expression of these complexes, studies have been carried out on crop plants by different groups, but not much information is known about trees. We present the nucleotide sequences of PSII genes and RNA profiles of the genes located in the psbB operon from Populus deltoides, a tree species. Although the gene organization of this operon in P. deltoides is similar to that in other species, a few variations have been observed in the processing scheme.

Characterization of the photosynthetic induction response in a Populus species with stomata barely responding to light changes.

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Tang, Y; Liang, N

2000-08-01

The photosynthetic induction response is constrained by stomatal and biochemical limitations. However, leaves in some plants like Populus koreana x trichocarpa cv. Peace (a hybrid clone) may have little stomatal limitation because their stomata barely respond to changes in photon flux density (PFD). We examined the induction responses of leaves of well-watered and dehydrated P. koreana x trichocarpa plants grown in a high-light or a low-light regime. With an increase in PFD from 50 to 500 micromol m(-2) s(-1), steady-state stomatal conductance (g(s)) increased by only 0.25-8.2%, regardless of the initial g(s), but steady-state assimilation rate (A) increased by 550-1810%. Photosynthetic induction times required to reach 50% (IT50) and 90% (IT90) of A at high PFD were 60-90 s and 210-360 s, respectively. Examination of the dynamic relationships between A and g(s), and between A and intercellular CO2 concentration, indicated that the induction limitation was imposed completely by the biochemical components within 30-40 s after the PFD increase. Values of IT50 and IT90 were significantly higher in low-light leaves than in high-light leaves, whereas the induction state at 60 s and the induction efficiency at 60 and 120 s after the increase in PFD were lower in low-light leaves than in high-light leaves. Dehydration reduced leaf water potential (psi) significantly, resulting in a significantly decreased initial g(s). Leaf water potential had no significant effects on induction time in high-light leaves, but a low psi significantly reduced the induction time in low-light leaves. We conclude that the photosynthetic induction response was limited almost completely by biochemical components because the stomata barely responded to light changes. The biochemical limitation appeared to be higher in low-light leaves than in high-light leaves. Mild water stress may have reduced steady-state A and g(s), but it had little effect on the photosynthetic induction response in high

Identifying gene coexpression networks underlying the dynamic regulation of wood-forming tissues in Populus under diverse environmental conditions.

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Zinkgraf, Matthew; Liu, Lijun; Groover, Andrew; Filkov, Vladimir

2017-06-01

Trees modify wood formation through integration of environmental and developmental signals in complex but poorly defined transcriptional networks, allowing trees to produce woody tissues appropriate to diverse environmental conditions. In order to identify relationships among genes expressed during wood formation, we integrated data from new and publically available datasets in Populus. These datasets were generated from woody tissue and include transcriptome profiling, transcription factor binding, DNA accessibility and genome-wide association mapping experiments. Coexpression modules were calculated, each of which contains genes showing similar expression patterns across experimental conditions, genotypes and treatments. Conserved gene coexpression modules (four modules totaling 8398 genes) were identified that were highly preserved across diverse environmental conditions and genetic backgrounds. Functional annotations as well as correlations with specific experimental treatments associated individual conserved modules with distinct biological processes underlying wood formation, such as cell-wall biosynthesis, meristem development and epigenetic pathways. Module genes were also enriched for DNase I hypersensitivity footprints and binding from four transcription factors associated with wood formation. The conserved modules are excellent candidates for modeling core developmental pathways common to wood formation in diverse environments and genotypes, and serve as testbeds for hypothesis generation and testing for future studies. No claim to original US government works. New Phytologist © 2017 New Phytologist Trust.

Latitudinal variation in cold hardiness in introduced Tamarix and native Populus

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Friedman, Jonathan M.; Roelle, James E.; Gaskin, John F.; Pepper, Alan E.; Manhart, James R.

2008-01-01

To investigate the evolution of clinal variation in an invasive plant, we compared cold hardiness in the introduced saltcedar (Tamarix ramosissima, Tamarix chinensis, and hybrids) and the native plains cottonwood (Populus deltoidessubsp. monilifera). In a shadehouse in Colorado (41°N), we grew plants collected along a latitudinal gradient in the central United States (29–48°N). On 17 occasions between September 2005 and June 2006, we determined killing temperatures using freeze-induced electrolyte leakage and direct observation. In midwinter, cottonwood survived cooling to −70°C, while saltcedar was killed at −33 to −47°C. Frost sensitivity, therefore, may limit northward expansion of saltcedar in North America. Both species demonstrated inherited latitudinal variation in cold hardiness. For example, from September through January killing temperatures for saltcedar from 29.18°N were 5–21°C higher than those for saltcedar from 47.60°N, and on September 26 and October 11, killing temperatures for cottonwood from 33.06°N were >43°C higher than those for cottonwood from 47.60°N. Analysis of nine microsatellite loci showed that southern saltcedars are more closely related to T. chinensis while northern plants are more closely related to T. ramosissima. Hybridization may have introduced the genetic variability necessary for rapid evolution of the cline in saltcedar cold hardiness.

parámetros en híbridos de populus

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O. S. Vallejos-Barra

2007-01-01

Full Text Available La variable diámetro a la altura del pecho, medido a 1.3 m desde el suelo (DAP es lognormal si log(DAP-θ se distribuye normalmente. Para simplificar el ajuste de esta función de densidad de probabilidad (fdp se supone que el parámetro de localización (θ es cero en híbridos de Populus; sin embargo, en algunos casos esta simplificación no asegura el mejor ajuste de la fdp, incidiendo en la representación de la estructura horizontal de los híbridos. El objetivo de la investigación fue calcular el parámetro θ que proporcione el mejor ajuste de la fdp lognormal del DAP en los híbridos I-488 e I-63/51. Para este cálculo se utilizó un algoritmo de búsqueda binaria, que minimizó el estadístico Dn de la prueba de Kolmogorov-Smirnov. 38 % de las parcelas presentó un parámetro θ distinto de cero, originando una mejoría del valor de probabilidad (P entre 0.02 y 55.4 %. Se hizo un análisis de varianza no paramétrico de la variable “√n * Dn”, ya que la variable original y múltiples transformaciones no permitieron aceptar los supuestos del análisis paramétrico. El tipo de ajuste presentó diferencias estadísticas altamente significativas con un valor de 17.1 (P0.800 y las edades un valor de 11.2 (P>0.260.

Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.

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Liu, Xiaowen; Tang, Zhaohui; Li, Chang; Yang, Kangjuan; Gan, Guanqi; Zhang, Zibo; Liu, Jingyu; Jiang, Fagang; Wang, Qing; Liu, Mugen

2010-03-17

To identify the disease-causing gene in a four-generation Chinese family affected with retinitis pigmentosa (RP). Linkage analysis was performed with a panel of microsatellite markers flanking the candidate genetic loci of RP. These loci included 38 known RP genes. The complete coding region and exon-intron boundaries of Usher syndrome 2A (USH2A) were sequenced with the proband DNA to screen the disease-causing gene mutation. Restriction fragment length polymorphism (RFLP) analysis and direct DNA sequence analysis were done to demonstrate co-segregation of the USH2A mutations with the family disease. One hundred normal controls were used without the mutations. The disease-causing gene in this Chinese family was linked to the USH2A locus on chromosome 1q41. Direct DNA sequence analysis of USH2A identified two novel mutations in the patients: one missense mutation p.G1734R in exon 26 and a splice site mutation, IVS32+1G>A, which was found in the donor site of intron 32 of USH2A. Neither the p.G1734R nor the IVS32+1G>A mutation was found in the unaffected family members or the 100 normal controls. One patient with a homozygous mutation displayed only RP symptoms until now, while three patients with compound heterozygous mutations in the family of study showed both RP and hearing impairment. This study identified two novel mutations: p.G1734R and IVS32+1G>A of USH2A in a four-generation Chinese RP family. In this study, the heterozygous mutation and the homozygous mutation in USH2A may cause Usher syndrome Type II or RP, respectively. These two mutations expand the mutant spectrum of USH2A.

Qualitative variation in proanthocyanidin composition of Populus species and hybrids: genetics is the key.

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Scioneaux, Ashley N; Schmidt, Michael A; Moore, Melissa A; Lindroth, Richard L; Wooley, Stuart C; Hagerman, Ann E

2011-01-01

The literature on proanthocyanidins (tannins) in ecological systems is dominated by quantitative studies. Despite evidence that the qualitative characteristics (subunit type, polymer chain length) of these complex polyphenolics are important determinants of biological activity, little is known about genetic and environmental controls on the type of proanthocyanidins produced by plants. We tested the hypothesis that genetics, season, developmental stage, and environment determine proanthocyanidin qualitative characteristics by using four Populus "cross types" (narrowleaf [P. angustifolia], Fremont [P. fremontii], F1 hybrids, and backcrosses to narrowleaf). We used thiolysis and HPLC analysis to characterize the proanthocyanidins, and found that genetics strongly control composition. The narrowleaf plants accumulate mixed procyanidin/prodelphinidins with average composition epicatechin(11)-epigallocatechin(8)-catechin(2)-catechin((terminal)). Backcross genotypes produce mixed procyanidin/prodelphinidins similar to narrowleaf, while Fremont makes procyanidin dimers, and the F1 plants contain procyanidin heptamers. Less striking effects were noted for genotype × environment, while season and developmental zone had little effect on proanthocyanidin composition or chain length. We discuss the metabolic and ecological consequences of differences in condensed tannin qualitative traits.

Urbanization-related changes in European aspen (Populus tremula L.): Leaf traits and litter decomposition

International Nuclear Information System (INIS)

Nikula, Suvi; Vapaavuori, Elina; Manninen, Sirkku

2010-01-01

We investigated foliar and litter responses of European aspen (Populus tremula L.) to urbanization, including factors such as increased temperature, moisture stress and nitrogen (N) deposition. Leaf samples were collected in 2006-2008 from three urban and three rural forest stands in the Helsinki Metropolitan Area, southern Finland, and reciprocal litter transplantations were established between urban and rural sites. Urban leaves exhibited a higher amount of epicuticular waxes and N concentration, and a lower C:N ratio than rural ones, but there was no difference in specific leaf area. Urban litter had a slightly higher N concentration, lower concentrations of lignin and total phenolics, and was more palatable to a macrofaunal decomposer. Moreover, litter decay was faster at the urban site and for urban litter. Urbanization thus resulted in foliar acclimatization in terms of increased amount of epicuticular waxes, as well as in accelerated decomposition of the N-richer leaf litter. - Urbanization can modify leaf traits of aspen and accelerate litter decomposition through changes in litter traits as well as in environmental conditions at the decomposition site.

Microstructural and Topochemical Characterization of Thermally Modified Poplar (Populus cathayaha Cell Wall

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Zhe Ling

2015-11-01

Full Text Available Although many studies have been conducted on the wood property and chemical changes caused by thermal modification, little has been reported on the microstructural and topochemical changes occurring in the cell wall during heat treatment. In this study, poplar (Populus cathayaha was treated within a temperature range from 180 to 220 °C for 4 h. Chemical analyses by Fourier transform infrared spectroscopy (FTIR and nuclear magnetic resonance (NMR indicated that heat treatment resulted in deacetylation of hemicelluloses and cleavage of lignin chains, thus generating new carbonyl and phenolic linkages. Transformation of matrix substances contributed to microstructural changes that appeared in clearly distorted and collapsed fiber and vessel walls along with the delamination of compound middle lamella (CML and secondary walls (S, which showed a reduced capability to resist deformation. It was also observed by fluorescence microscopy (FM and scanning electron microscope coupled with energy dispersive X-ray analysis (SEM-EDXA that the concentration of lignin increased, probably because of the degradation of hemicelluloses and the generation of new carbonyl groups. These results on cell wall microstructure and topochemistry can help explain the altered wood properties revealed by dynamic mechanical analysis (DMA and equilibrium moisture content (EMC testing after heat treatment.

Cloning of the cryptochrome-encoding PeCRY1 gene from Populus euphratica and functional analysis in Arabidopsis.

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Ke Mao

Full Text Available Cryptochromes are photolyase-like blue/UV-A light receptors that evolved from photolyases. In plants, cryptochromes regulate various aspects of plant growth and development. Despite of their involvement in the control of important plant traits, however, most studies on cryptochromes have focused on lower plants and herbaceous crops, and no data on cryptochrome function are available for forest trees. In this study, we isolated a cryptochrome gene, PeCRY1, from Euphrates poplar (Populus euphratica, and analyzed its structure and function in detail. The deduced PeCRY1 amino acid sequence contained a conserved N-terminal photolyase-homologous region (PHR domain as well as a C-terminal DQXVP-acidic-STAES (DAS domain. Secondary and tertiary structure analysis showed that PeCRY1 shares high similarity with AtCRY1 from Arabidopsis thaliana. PeCRY1 expression was upregulated at the mRNA level by light. Using heterologous expression in Arabidopsis, we showed that PeCRY1 overexpression rescued the cry1 mutant phenotype. In addition, PeCRY1 overexpression inhibited hypocotyl elongation, promoted root growth, and enhanced anthocyanin accumulation in wild-type background seedlings grown under blue light. Furthermore, we examined the interaction between PeCRY1 and AtCOP1 using a bimolecular fluorescence complementation (BiFc assay. Our data provide evidence for the involvement of PeCRY1 in the control of photomorphogenesis in poplar.

Structure and expression of GSL1 and GSL2 genes encoding gibberellin stimulated-like proteins in diploid and highly heterozygous tetraploid potato reveals their highly conserved and essential status.

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Meiyalaghan, Sathiyamoorthy; Thomson, Susan J; Fiers, Mark W E J; Barrell, Philippa J; Latimer, Julie M; Mohan, Sara; Jones, E Eirian; Conner, Anthony J; Jacobs, Jeanne M E

2014-01-02

GSL1 and GSL2, Gibberellin Stimulated-Like proteins (also known as Snakin-1 and Snakin-2), are cysteine-rich peptides from potato (Solanum tuberosum L.) with antimicrobial properties. Similar peptides in other species have been implicated in diverse biological processes and are hypothesised to play a role in several aspects of plant development, plant responses to biotic or abiotic stress through their participation in hormone crosstalk, and redox homeostasis. To help resolve the biological roles of GSL1 and GSL2 peptides we have undertaken an in depth analysis of the structure and expression of these genes in potato. We have characterised the full length genes for both GSL1 (chromosome 4) and GSL2 (chromosome 1) from diploid and tetraploid potato using the reference genome sequence of potato, coupled with further next generation sequencing of four highly heterozygous tetraploid cultivars. The frequency of SNPs in GSL1 and GSL2 were very low with only one SNP every 67 and 53 nucleotides in exon regions of GSL1 and GSL2, respectively. Analysis of comprehensive RNA-seq data substantiated the role of specific promoter motifs in transcriptional control of gene expression. Expression analysis based on the frequency of next generation sequence reads established that GSL2 was expressed at a higher level than GSL1 in 30 out of 32 tissue and treatment libraries. Furthermore, both the GSL1 and GSL2 genes exhibited constitutive expression that was not up regulated in response to biotic or abiotic stresses, hormone treatments or wounding. Potato transformation with antisense knock-down expression cassettes failed to recover viable plants. The potato GSL1 and GSL2 genes are very highly conserved suggesting they contribute to an important biological function. The known antimicrobial activity of the GSL proteins, coupled with the FPKM analysis from RNA-seq data, implies that both genes contribute to the constitutive defence barriers in potatoes. The lethality of antisense knock

Age-Related Hearing Loss in Mn-SOD Heterozygous Knockout Mice

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Makoto Kinoshita

2013-01-01

Full Text Available Age-related hearing loss (AHL reduces the quality of life for many elderly individuals. Manganese superoxide dismutase (Mn-SOD, one of the antioxidant enzymes acting within the mitochondria, plays a crucial role in scavenging reactive oxygen species (ROS. To determine whether reduction in Mn-SOD accelerates AHL, we evaluated auditory function in Mn-SOD heterozygous knockout (HET mice and their littermate wild-type (WT C57BL/6 mice by means of auditory brainstem response (ABR. Mean ABR thresholds were significantly increased at 16 months when compared to those at 4 months in both WT and HET mice, but they did not significantly differ between them at either age. The extent of hair cell loss, spiral ganglion cell density, and thickness of the stria vascularis also did not differ between WT and HET mice at either age. At 16 months, immunoreactivity of 8-hydroxydeoxyguanosine was significantly greater in the SGC and SV in HET mice compared to WT mice, but that of 4-hydroxynonenal did not differ between them. These findings suggest that, although decrease of Mn-SOD by half may increase oxidative stress in the cochlea to some extent, it may not be sufficient to accelerate age-related cochlear damage under physiological aging process.

Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype

DEFF Research Database (Denmark)

van Nuenen, BF; Siebner, Hartwig; Weiss, MM

2008-01-01

inherited Parkinson disease alters the cortical control of sequential finger movements. METHODS: Nonmanifesting individuals carrying a single heterozygous Parkin (n = 13) or PINK1 (n = 9) mutation and 23 healthy controls without these mutations were studied with functional MRI (fMRI). During f...... rostral dorsal premotor cortex in mutation carriers but not in controls. Task-related activation of these premotor areas was similar in carriers of a Parkin or PINK1 mutation. CONCLUSION: Mutations in different genes linked to recessively inherited Parkinson disease are associated with an additional...... recruitment of rostral supplementary motor area and rostral dorsal premotor cortex during a simple motor sequence task. These premotor areas were recruited independently of the underlying genotype. The observed activation most likely reflects a "generic" compensatory mechanism to maintain motor function...

Association of Pinus banksiana Lamb. and Populus tremuloides Michx. seedling fine roots with Sistotrema brinkmannii (Bres.) J. Erikss. (Basidiomycotina).

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Potvin, Lynette R; Richter, Dana L; Jurgensen, Martin F; Dumroese, R Kasten

2012-11-01

Sistotrema brinkmannii (Bres.) J. Erikss. (Basidiomycotina, Hydanaceae), commonly regarded as a wood decay fungus, was consistently isolated from bareroot nursery Pinus banksiana Lamb. seedlings. S. brinkmannii was found in ectomycorrhizae formed by Thelephora terrestris Ehrh., Laccaria laccata (Scop.) Cooke, and Suillus luteus (L.) Roussel. In pure culture combinations with sterile P. banksiana and Populus tremuloides Michx. seedlings, S. brinkmannii colonized root cortical cells while not killing seedlings. Colonization by S. brinkmannii appeared to be intracellular but typical endo- or ectomycorrhizae were not formed. The fungus did not decay roots, although it was shown to produce cellulase in enzyme tests. Results suggest a unique association between S. brinkmannii and seedling roots that is neither mycorrhizal nor detrimental; its exact function remains to be elucidated.

Molecular cloning and functional analysis of nine cinnamyl alcohol dehydrogenase family members in Populus tomentosa.

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Chao, Nan; Liu, Shu-Xin; Liu, Bing-Mei; Li, Ning; Jiang, Xiang-Ning; Gai, Ying

2014-11-01

Nine CAD/CAD-like genes in P. tomentosa were classified into four classes based on expression patterns, phylogenetic analysis and biochemical properties with modification for the previous claim of SAD. Cinnamyl alcohol dehydrogenase (CAD) functions in monolignol biosynthesis and plays a critical role in wood development and defense. In this study, we isolated and cloned nine CAD/CAD-like genes in the Populus tomentosa genome. We investigated differential expression using microarray chips and found that PtoCAD1 was highly expressed in bud, root and vascular tissues (xylem and phloem) with the greatest expression in the root. Differential expression in tissues was demonstrated for PtoCAD3, PtoCAD6 and PtoCAD9. Biochemical analysis of purified PtoCADs in vitro indicated PtoCAD1, PtoCAD2 and PtoCAD8 had detectable activity against both coniferaldehyde and sinapaldehyde. PtoCAD1 used both substrates with high efficiency. PtoCAD2 showed no specific requirement for sinapaldehyde in spite of its high identity with so-called PtrSAD (sinapyl alcohol dehydrogenase). In addition, the enzymatic activity of PtoCAD1 and PtoCAD2 was affected by temperature. We classified these nine CAD/CAD-like genes into four classes: class I included PtoCAD1, which was a bone fide CAD with the highest activity; class II included PtoCAD2, -5, -7, -8, which might function in monolignol biosynthesis and defense; class III genes included PtoCAD3, -6, -9, which have a distinct expression pattern; class IV included PtoCAD12, which has a distinct structure. These data suggest divergence of the PtoCADs and its homologs, related to their functions. We propose genes in class II are a subset of CAD genes that evolved before angiosperms appeared. These results suggest CAD/CAD-like genes in classes I and II play a role in monolignol biosynthesis and contribute to our knowledge of lignin biosynthesis in P. tomentosa.

The UDP-glucuronate decarboxylase gene family in Populus: structure, expression, and association genetics.

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Qingzhang Du

Full Text Available In woody crop plants, the oligosaccharide components of the cell wall are essential for important traits such as bioenergy content, growth, and structural wood properties. UDP-glucuronate decarboxylase (UXS is a key enzyme in the synthesis of UDP-xylose for the formation of xylans during cell wall biosynthesis. Here, we isolated a multigene family of seven members (PtUXS1-7 encoding UXS from Populus tomentosa, the first investigation of UXSs in a tree species. Analysis of gene structure and phylogeny showed that the PtUXS family could be divided into three groups (PtUXS1/4, PtUXS2/5, and PtUXS3/6/7, consistent with the tissue-specific expression patterns of each PtUXS. We further evaluated the functional consequences of nucleotide polymorphisms in PtUXS1. In total, 243 single-nucleotide polymorphisms (SNPs were identified, with a high frequency of SNPs (1/18 bp and nucleotide diversity (πT = 0.01033, θw = 0.01280. Linkage disequilibrium (LD analysis showed that LD did not extend over the entire gene (r (2<0.1, P<0.001, within 700 bp. SNP- and haplotype-based association analysis showed that nine SNPs (Q <0.10 and 12 haplotypes (P<0.05 were significantly associated with growth and wood property traits in the association population (426 individuals, with 2.70% to 12.37% of the phenotypic variation explained. Four significant single-marker associations (Q <0.10 were validated in a linkage mapping population of 1200 individuals. Also, RNA transcript accumulation varies among genotypic classes of SNP10 was further confirmed in the association population. This is the first comprehensive study of the UXS gene family in woody plants, and lays the foundation for genetic improvements of wood properties and growth in trees using genetic engineering or marker-assisted breeding.

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2 gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

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Michael F Wangler

2014-03-01

Full Text Available Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS is a rare disorder of enteric smooth muscle function affecting the intestine and bladder. Patients with this severe phenotype are dependent on total parenteral nutrition and urinary catheterization. The cause of this syndrome has remained a mystery since Berdon's initial description in 1976. No genes have been clearly linked to MMIHS. We used whole-exome sequencing for gene discovery followed by targeted Sanger sequencing in a cohort of patients with MMIHS and intestinal pseudo-obstruction. We identified heterozygous ACTG2 missense variants in 15 unrelated subjects, ten being apparent de novo mutations. Ten unique variants were detected, of which six affected CpG dinucleotides and resulted in missense mutations at arginine residues, perhaps related to biased usage of CpG containing codons within actin genes. We also found some of the same heterozygous mutations that we observed as apparent de novo mutations in MMIHS segregating in families with intestinal pseudo-obstruction, suggesting that ACTG2 is responsible for a spectrum of smooth muscle disease. ACTG2 encodes γ2 enteric actin and is the first gene to be clearly associated with MMIHS, suggesting an important role for contractile proteins in enteric smooth muscle disease.

Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.

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Yun Wang

Full Text Available Retinitis pigmentosa (RP is a heterogeneous group of progressive retinal degenerations characterized by pigmentation and atrophy in the mid-periphery of the retina. Twenty two subjects from a four-generation Chinese family with RP and thin cornea, congenital cataract and high myopia is reported in this study. All family members underwent complete ophthalmologic examinations. Patients of the family presented with bone spicule-shaped pigment deposits in retina, retinal vascular attenuation, retinal and choroidal dystrophy, as well as punctate opacity of the lens, reduced cornea thickness and high myopia. Peripheral venous blood was obtained from all patients and their family members for genetic analysis. After mutation analysis in a few known RP candidate genes, exome sequencing was used to analyze the exomes of 3 patients III2, III4, III6 and the unaffected mother II2. A total of 34,693 variations shared by 3 patients were subjected to several filtering steps against existing variation databases. Identified variations were verified in the rest family members by PCR and Sanger sequencing. Compound heterozygous c.802-8_810del17insGC and c.1091-2A>G mutations of the CYP4V2 gene, known as genetic defects for Bietti crystalline corneoretinal dystrophy, were identified as causative mutations for RP of this family.

Sex-specific responses of Populus deltoides to defoliation

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Li Shuxin

2017-12-01

Full Text Available There has been an increasing interest in understanding the differential effects of sexual dimorphism on plant stress responses. However, there is no clear pattern in the responses of the sexes to defoliation. In this study, the effects of different severity of artificial defoliation on biomass production, total nonstructural carbohydrate (NSC concentration, and photosynthetic rate (PN of male and female Populus deltoides were examined. We used half and full defoliation to observe the differences between the sexes in three harvest dates (1 week, 4 weeks, and 8 weeks after treatments. We hypothesized that female and male P. deltoides compared with an undefoliated control would have compensatory growth in response to defoliation treatments. Results showed that half and full defoliation reduced the growth of both sexes. Following half defoliation, root growth was reduced, especially in males, at T2 (4 weeks after defoliation and T3 (8 weeks after defoliation, while males showed an increase in height increment under the half defoliation compared with the nondefoliation treatments. By contrast, females were more negatively affected by defoliation than males in terms of biomass after 8 weeks. One week after defoliation, PN increased significantly in females and males under half defoliation (+30%, +32%, respectively and full defoliation (+58%, +56%, respectively. However, 8 weeks after defoliation, there was little difference in PN between defoliated and undefoliated female cuttings. Increases in stomatal conductance (gs and leaf nitrogen were observed under fully defoliated female and male cuttings. Moreover, males had less NSC concentrations following half defoliation compared with females. Our results indicate that leaf compensatory growth in male cuttings of P. deltoides was maintained by obtaining greater photosynthetic capacity, higher leaf nitrogen, and lower NSC concentration following half and full defoliation. Our results highlight that

Heterozygous M1V variant of ELA-2 gene mutation associated with G-CSF refractory severe congenital neutropenia.

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Setty, Bhuvana A; Yeager, Nicholas D; Bajwa, Rajinder P

2011-09-01

Severe congenital neutropenia is an autosomal recessive disorder characterized by maturation arrest at the promyelocyte/myelocyte phase in the bone marrow, absolute neutrophil count ELA-2 have been described. We report the case of a premature male infant with congenital neutropenia, associated with multiple infections, refractory to treatment with granulocyte colony stimulating factor who subsequently underwent matched sibling donor stem-cell transplant. He was found to be heterozygous for the M1V variant of the ELA-2 gene that we postulate to be causative for his severe neutropenia Copyright © 2011 Wiley-Liss, Inc.

Litter Quality of Populus Species as Affected by Free-Air CO2 Enrichment and N-Fertilization

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Vermue, E.; Buurman, P.; Hoosbeek, M.R.

2010-01-01

The effect of elevated CO 2 and nitrogen fertilization on the molecular chemistry of litter of three Populus species and associated soil organic matter (SOM) was investigated by pyrolysis-gas chromatography/mass spectrometry. The results are based on 147 quantified organic compounds in 24 litter samples. Litter of P. euramerica was clearly different from that of P. nigra and P. alba. The latter two had higher contents of proteins, polysaccharides, and cutin/cutan, while the former had higher contents of phenols and benzofurans/pyrans. The difference between replications was at least as large as the effect of treatments, so that no systematic chemical changes were attributable to CO 2 effect or N-fertilization effect. The chemistry of SOM under the various species and treatments did not show significant changes either. The low number of available replicates that is two was clearly insufficient to overcome the effect of spatial variation on litter chemistry and detect small differences in molecular litter chemistry.

Litter Quality of Populus Species as Affected by Free-Air CO2 Enrichment and N-Fertilization

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Esther Vermue

2009-01-01

Full Text Available The effect of elevated CO2 and nitrogen fertilization on the molecular chemistry of litter of three Populus species and associated soil organic matter (SOM was investigated by pyrolysis-gas chromatography/mass spectrometry. The results are based on 147 quantified organic compounds in 24 litter samples. Litter of P. euramerica was clearly different from that of P. nigra and P. alba. The latter two had higher contents of proteins, polysaccharides, and cutin/cutan, while the former had higher contents of phenols and benzofurans/pyrans. The difference between replications was at least as large as the effect of treatments, so that no systematic chemical changes were attributable to CO2 effect or N-fertilization effect. The chemistry of SOM under the various species and treatments did not show significant changes either. The low number of available replicates that is two was clearly insufficient to overcome the effect of spatial variation on litter chemistry and detect small differences in molecular litter chemistry.

Biochemical and Physiological Studies on the Effects of Senescence Leaves of Populus deltoides on Triticum vulgare

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Tejinder Pal Khaket

2014-01-01

Full Text Available Triticum vulgare (Wheat based products are the major dietary source of food in developing countries. In India, it grows in association with boundary plantations of Populus deltoids (poplar. During winter, poplar enters in dormancy which cause a heavy leaf fall at the time of wheat seed germination. Large number of poplar senescence leaves may adversely affect the wheat. Therefore, the present study was performed to examine the effect of senescence poplar leaves on wheat germ and some other biochemical parameters. Seed’s germination rate was determined by measuring root and shoot lengths, percent germination, germination index, and inhibition percentage. Biochemical parameters, namely, pigment, carbohydrate, protein, and phenol content, were estimated. Activities of catalase and polyphenol oxidase which are stress marker enzymes were also measured. Results revealed that germination and other biochemical parameters of wheat were severely affected by senescence poplar leaves even at very low concentration. So, intercropping of poplar along with wheat may be chosen carefully as wheat is the major dietary staple.

R353Q polymorphism in the factor VII gene and cardiovascular risk in Heterozygous Familial Hypercholesterolemia: a case-control study

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Pérez-Jiménez Francisco

2011-04-01

Full Text Available Abstract Background Heterozygous Familial Hypercholesterolemia (FH is a genetic disorder characterized by a high risk of cardiovascular disease. Certain polymorphisms of the factor VII gene have been associated with the development of coronary artery disease and there is a known association between factor VII levels and polymorphic variants in this gene. To date, no study has evaluated the association between factor VII and coronary artery disease in patients with FH. Results This case-control study comprised 720 patients (546 with FH and 174 controls. We determined the prevalence and allele frequencies of the R353Q polymorphism of factor VII, the plasma levels of factor VII antigen (FVII Ag and whether they could be predictive factors for cardiovascular risk. 75% (410 of the patients with FH were RR, 23% (127 RQ and 1.6% (9 QQ; in the control group 75.3% (131 were RR, 21.3% (37 RQ and 3.4% (6 QQ (p = 0.32. No statistically significant associations were observed in the distribution of genotypes and allele frequencies between case (FH and control groups. Nor did we find differences when we evaluated the relationship between the R353Q polymorphism and cardiovascular risk (including coronary disease, ischemic stroke and peripheral arterial disease, either in the univariate analysis or after adjustment for sex, age, arterial hypertension, body mass index, xanthomas, diabetes, smoking, HDLc and LDLc and lipid-lowering treatment. The FVII Ag concentrations behaved in a similar fashion, with no differences for the interaction between controls and those with FH (RR vs. RQ/QQ; p = 0.96. In the subgroup of patients with FH no association was found among cardiovascular disease, genotype and FVII Ag levels (RR vs. RQ/QQ; p = 0.97. Conclusions Our study did not find a direct relationship between cardiovascular risk in patients with Heterozygous Familial Hypercholesterolemia, the R353Q polymorphism of factor VII and FVII Ag levels.

A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX).

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Zhou, Qi; Yao, Fengxia; Wang, Feng; Li, Hui; Chen, Rui; Sui, Ruifang

2018-01-01

Turner syndrome with retinitis pigmentosa (RP) is rare, with only three cases reported based on clinical examination alone. We summarized the 4-year follow-up and molecular findings in a 28-year-old patient with Turner syndrome and the typical features of short stature and neck webbing, who also had X-linked RP. Her main complaints were night blindness and progressive loss of vision since the age of 9 years. Ophthalmologic examination, optical coherent tomographic imaging, and visual electrophysiology tests showed classic manifestations of RP. The karyotype of peripheral blood showed mosaicism (45,X [72%]/46,XX[28%]). A novel heterozygous frameshift mutation (c.2403_2406delAGAG, p.T801fsX812) in the RP GTPase regulator (RPGR) gene was detected using next generation sequencing and validated by Sanger sequencing. We believe that this is the first report of X-linked RP in a patient with Turner syndrome associated with mosaicism, and an RPGR heterozygous mutation. We hypothesize that X-linked RP in this woman is not related to Turner syndrome, but may be a manifestation of the lack of a normal paternal X chromosome with intact but mutated RPGR. © 2017 Wiley Periodicals, Inc.

Identification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing.

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Li, Haonan; Jin, Peng; Hao, Qian; Zhu, Wei; Chen, Xia; Wang, Ping

2017-11-01

Waardenburg syndrome (WS) is a rare autosomal dominant disorder associated with pigmentation abnormalities and sensorineural hearing loss. In this study, we investigated the genetic cause of WSII in a patient and evaluated the reliability of the targeted next-generation exome sequencing method for the genetic diagnosis of WS. Clinical evaluations were conducted on the patient and targeted next-generation sequencing (NGS) was used to identify the candidate genes responsible for WSII. Multiplex ligation-dependent probe amplification (MLPA) and real-time quantitative polymerase chain reaction (qPCR) were performed to confirm the targeted NGS results. Targeted NGS detected the entire deletion of the coding sequence (CDS) of the SOX10 gene in the WSII patient. MLPA results indicated that all exons of the SOX10 heterozygous deletion were detected; no aberrant copy number in the PAX3 and microphthalmia-associated transcription factor (MITF) genes was found. Real-time qPCR results identified the mutation as a de novo heterozygous deletion. This is the first report of using a targeted NGS method for WS candidate gene sequencing; its accuracy was verified by using the MLPA and qPCR methods. Our research provides a valuable method for the genetic diagnosis of WS.

Evaluation of Internal Cracks and Collapse in Poplar Wood (Populus nigra during a Conventional Drying Process with Ultrasonic Inspection

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Saeid ESHAGHI

2012-05-01

Full Text Available In this research, internal cracks and collapse of wood, formed during drying process, were measured using ultrasonic inspection. For this purpose, seven poplar (Populus nigra small blocks were dried, according to a time-based schedule. Ultrasonic waves� propagation velocity was measured at both parallel and perpendicular to grain directions, using Sylvatest ultrasound device, during kiln drying process. Results showed that in all dried blocks, waves� propagation velocity in the parallel direction was higher than in the perpendicular direction to grain. Ultrasonic waves� propagation test for non-destructive identification of internal cracks, which occurs in wood during drying process in the parallel direction, was more successful compared to the perpendicular direction. Using ultrasonic waves� propagation test for detection of collapse that occurs in wood during drying process was not useful.

Evaluation of Internal Cracks and Collapse in Poplar Wood (Populus nigra during a Conventional Drying Process with Ultrasonic Inspection

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Saeid ESHAGHI

2012-05-01

Full Text Available In this research, internal cracks and collapse of wood, formed during drying process, were measured using ultrasonic inspection. For this purpose, seven poplar (Populus nigra small blocks were dried, according to a time-based schedule. Ultrasonic waves propagation velocity was measured at both parallel and perpendicular to grain directions, using Sylvatest ultrasound device, during kiln drying process. Results showed that in all dried blocks, waves propagation velocity in the parallel direction was higher than in the perpendicular direction to grain. Ultrasonic waves propagation test for non-destructive identification of internal cracks, which occurs in wood during drying process in the parallel direction, was more successful compared to the perpendicular direction. Using ultrasonic waves propagation test for detection of collapse that occurs in wood during drying process was not useful.

Draft Sequencing of the Heterozygous Diploid Genome of Satsuma (Citrus unshiu Marc. Using a Hybrid Assembly Approach

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Tokurou Shimizu

2017-12-01

Full Text Available Satsuma (Citrus unshiu Marc. is one of the most abundantly produced mandarin varieties of citrus, known for its seedless fruit production and as a breeding parent of citrus. De novo assembly of the heterozygous diploid genome of Satsuma (“Miyagawa Wase” was conducted by a hybrid assembly approach using short-read sequences, three mate-pair libraries, and a long-read sequence of PacBio by the PLATANUS assembler. The assembled sequence, with a total size of 359.7 Mb at the N50 length of 386,404 bp, consisted of 20,876 scaffolds. Pseudomolecules of Satsuma constructed by aligning the scaffolds to three genetic maps showed genome-wide synteny to the genomes of Clementine, pummelo, and sweet orange. Gene prediction by modeling with MAKER-P proposed 29,024 genes and 37,970 mRNA; additionally, gene prediction analysis found candidates for novel genes in several biosynthesis pathways for gibberellin and violaxanthin catabolism. BUSCO scores for the assembled scaffold and predicted transcripts, and another analysis by BAC end sequence mapping indicated the assembled genome consistency was close to those of the haploid Clementine, pummel, and sweet orange genomes. The number of repeat elements and long terminal repeat retrotransposon were comparable to those of the seven citrus genomes; this suggested no significant failure in the assembly at the repeat region. A resequencing application using the assembled sequence confirmed that both kunenbo-A and Satsuma are offsprings of Kishu, and Satsuma is a back-crossed offspring of Kishu. These results illustrated the performance of the hybrid assembly approach and its ability to construct an accurate heterozygous diploid genome.

Degradation of exogenous caffeine by Populus alba and its effects on endogenous caffeine metabolism.

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Pierattini, Erika C; Francini, Alessandra; Raffaelli, Andrea; Sebastiani, Luca

2016-04-01

This is the first study reporting the presence of endogenous caffeine, theobromine, and theophylline in all organs of poplar plants. Liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) was used in order to evaluate the uptake, translocation, and metabolism of caffeine-(trimethyl-(13)C) in Populus alba L. Villafranca clone grown in hydroponic conditions. We investigated the remediation of caffeine since it is one of the most widely consumed drugs and it is frequently detected in wastewater treatment plant effluents, surface water, and groundwater worldwide. Our results demonstrated that poplar can absorb and degrade exogenous caffeine without negative effects on plant health. Data showed that concentrations of all endogenous compounds varied depending on caffeine-(trimethyl-(13)C) treatments. In particular, in control conditions, endogenous caffeine, theobromine, and theophylline were mainly distributed in roots. On the other hand, once caffeine-(trimethyl-(13)C) was provided, this compound and its dimethy-(13)C metabolites are mainly localized at leaf level. In conclusion, our results support the possible use of Villafranca clone in association with other water treatment systems in order to complete the process of caffeine remediation.

Cytospora species from Populus and Salix in China with C. davidiana sp. nov.

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Wang, Yan-Li; Lu, Quan; Decock, Cony; Li, Yong-Xia; Zhang, Xing-Yao

2015-05-01

Poplar and willow plantations have become widespread in China, in order to meet national economic and environmental needs. The emergence of several pathogens is enhanced by climatic change and associated human factors. Species of Cytospora are well-known pathogens on poplar and willow, and cause stem cankers and diebacks. In the present study, we conducted a survey of Cytospora species occurring on Populus spp. and Salix spp. in China. We used morphological examination and phylogenetic inferences, based on the DNA sequence data from the internal transcribed spacer regions (ITS1, 5.8S rDNA, and ITS2) and partial β-tubulin gene, to identify six Cytospora species occurring on poplar and willow. Five of these species belonged to known taxa, viz. Cytospora chrysosperma (asexual state of Valsa sordida), Cytospora translucens (asexual state of Leucostoma translucens), Cytospora fugax (asexual state of Valsa salicina), Cytospora atrocirrhata, and Cytospora kantschavelii. Our study yielded a new species, Cytospora davidiana sp. nov., on poplar. The new species is characterized by typical torsellioid conidiomata. An additional Cytospora sp. 1, which formed a distinct clade in the phylogenetic inferences, remains unnamed; the paucity of available materials prevented phenotypical characterization. Copyright © 2015 The British Mycological Society. Published by Elsevier Ltd. All rights reserved.

Structural and kinetic basis for substrate selectivity in Populus tremuloides sinapyl alcohol dehydrogenase.

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Bomati, Erin K; Noel, Joseph P

2005-05-01

We describe the three-dimensional structure of sinapyl alcohol dehydrogenase (SAD) from Populus tremuloides (aspen), a member of the NADP(H)-dependent dehydrogenase family that catalyzes the last reductive step in the formation of monolignols. The active site topology revealed by the crystal structure substantiates kinetic results indicating that SAD maintains highest specificity for the substrate sinapaldehyde. We also report substantial substrate inhibition kinetics for the SAD-catalyzed reduction of hydroxycinnamaldehydes. Although SAD and classical cinnamyl alcohol dehydrogenases (CADs) catalyze the same reaction and share some sequence identity, the active site topology of SAD is strikingly different from that predicted for classical CADs. Kinetic analyses of wild-type SAD and several active site mutants demonstrate the complexity of defining determinants of substrate specificity in these enzymes. These results, along with a phylogenetic analysis, support the inclusion of SAD in a plant alcohol dehydrogenase subfamily that includes cinnamaldehyde and benzaldehyde dehydrogenases. We used the SAD three-dimensional structure to model several of these SAD-like enzymes, and although their active site topologies largely mirror that of SAD, we describe a correlation between substrate specificity and amino acid substitution patterns in their active sites. The SAD structure thus provides a framework for understanding substrate specificity in this family of enzymes and for engineering new enzyme specificities.

No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2, or in Other Contactin-Associated Proteins or Contactins.

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John D Murdoch

2015-01-01

Full Text Available Contactins and Contactin-Associated Proteins, and Contactin-Associated Protein-Like 2 (CNTNAP2 in particular, have been widely cited as autism risk genes based on findings from homozygosity mapping, molecular cytogenetics, copy number variation analyses, and both common and rare single nucleotide association studies. However, data specifically with regard to the contribution of heterozygous single nucleotide variants (SNVs have been inconsistent. In an effort to clarify the role of rare point mutations in CNTNAP2 and related gene families, we have conducted targeted next-generation sequencing and evaluated existing sequence data in cohorts totaling 2704 cases and 2747 controls. We find no evidence for statistically significant association of rare heterozygous mutations in any of the CNTN or CNTNAP genes, including CNTNAP2, placing marked limits on the scale of their plausible contribution to risk.

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.

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Ewan R Pearson

2007-04-01

Full Text Available Macrosomia is associated with considerable neonatal and maternal morbidity. Factors that predict macrosomia are poorly understood. The increased rate of macrosomia in the offspring of pregnant women with diabetes and in congenital hyperinsulinaemia is mediated by increased foetal insulin secretion. We assessed the in utero and neonatal role of two key regulators of pancreatic insulin secretion by studying birthweight and the incidence of neonatal hypoglycaemia in patients with heterozygous mutations in the maturity-onset diabetes of the young (MODY genes HNF4A (encoding HNF-4alpha and HNF1A/TCF1 (encoding HNF-1alpha, and the effect of pancreatic deletion of Hnf4a on foetal and neonatal insulin secretion in mice.We examined birthweight and hypoglycaemia in 108 patients from families with diabetes due to HNF4A mutations, and 134 patients from families with HNF1A mutations. Birthweight was increased by a median of 790 g in HNF4A-mutation carriers compared to non-mutation family members (p < 0.001; 56% (30/54 of HNF4A-mutation carriers were macrosomic compared with 13% (7/54 of non-mutation family members (p < 0.001. Transient hypoglycaemia was reported in 8/54 infants with heterozygous HNF4A mutations, but was reported in none of 54 non-mutation carriers (p = 0.003. There was documented hyperinsulinaemia in three cases. Birthweight and prevalence of neonatal hypoglycaemia were not increased in HNF1A-mutation carriers. Mice with pancreatic beta-cell deletion of Hnf4a had hyperinsulinaemia in utero and hyperinsulinaemic hypoglycaemia at birth.HNF4A mutations are associated with a considerable increase in birthweight and macrosomia, and are a novel cause of neonatal hypoglycaemia. This study establishes a key role for HNF4A in determining foetal birthweight, and uncovers an unanticipated feature of the natural history of HNF4A-deficient diabetes, with hyperinsulinaemia at birth evolving to decreased insulin secretion and diabetes later in life.

Cloning and characterization of an AUX/IAA gene in Populus davidiana x P. alba var. Pyramidalis and the correlation between its time-course expression and the levels of indole-3-acetic in saplings inoculated with Trichoderma

International Nuclear Information System (INIS)

Yao, Z.; Baloch, A.M.; Zhai, T.; Jiang, C.; Liu, Z.; Zhang, R.

2018-01-01

Poda AUX/IAA gene, encoding an early-stage responsive protein to auxin in Populus davidiana x P. alba var. pyramidalis (Shanxin poplar), was cloned. The length of mRNA transcript of Poda AUX/IAA was 741bp, encoding a 248-amino-acid protein product, Poda AUX/IAA ORF analysis suggested that Poda AUX/IAA contained one conserved domain (pfam02309). Predicted molecular weight of Poda AUX/IAA was found to be 27kDa and its theoretical isoelectric point was determined as 8.21. Poda AUX/IAA was predicted to be a hydrophilic nucleoprotein and its multi-sequence alignment analysis showed that it shares high identity in four conserved domains with eight AUX/IAA proteins in other Populus species and these sequences of Poda AUX/IAA shared highest similarity with Pt-IAA14.1 in P. trichocarpa. In this study, we found that Poda AUX/IAA was expressed in both leaves and roots of Shanxin poplar. Three strains of Trichoderma asperellum were used to inoculate Shanxin poplar saplings. Inoculated saplings were cultured for 72 h. It was then found that IAA levels in both leaves and roots of inoculated saplings gradually increased and time-course expression patterns of PodaAUX/IAA was changed along with IAA levels. Results of Pearson correlation analysis demonstrated a negative correlation between expression levels of Poda AUX/IAA and IAA levels in both leaves and roots of Shanxin poplar saplings when compared with control. Negative correlation in inoculated saplings were less significant, probably as a result of Trichoderma inducing. (author)

Spring leaf flush in aspen (Populus tremuloides) clones is altered by long-term growth at elevated carbon dioxide and elevated ozone concentration

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McGrath, Justin M.; Karnosky, David F.; Ainsworth, Elizabeth A.

2010-01-01

Early spring leaf out is important to the success of deciduous trees competing for light and space in dense forest plantation canopies. In this study, we investigated spring leaf flush and how long-term growth at elevated carbon dioxide concentration ([CO 2 ]) and elevated ozone concentration ([O 3 ]) altered leaf area index development in a closed Populus tremuloides (aspen) canopy. This work was done at the Aspen FACE experiment where aspen clones have been grown since 1997 in conditions simulating the [CO 2 ] and [O 3 ] predicted for ∼2050. The responses of two clones were compared during the first month of spring leaf out when CO 2 fumigation had begun, but O 3 fumigation had not. Trees in elevated [CO 2 ] plots showed a stimulation of leaf area index (36%), while trees in elevated [O 3 ] plots had lower leaf area index (-20%). While individual leaf area was not significantly affected by elevated [CO 2 ], the photosynthetic operating efficiency of aspen leaves was significantly improved (51%). There were no significant differences in the way that the two aspen clones responded to elevated [CO 2 ]; however, the two clones responded differently to long-term growth at elevated [O 3 ]. The O 3 -sensitive clone, 42E, had reduced individual leaf area when grown at elevated [O 3 ] (-32%), while the tolerant clone, 216, had larger mature leaf area at elevated [O 3 ] (46%). These results indicate a clear difference between the two clones in their long-term response to elevated [O 3 ], which could affect competition between the clones, and result in altered genotypic composition in future atmospheric conditions. - Spring leaf flush is stimulated by elevated [CO 2 ] and suppressed by elevated [O 3 ] in aspen (Populus tremuloides).

Partial rescue of in vivo insulin signalling in skeletal muscle by impaired insulin clearance in heterozygous carriers of a mutation in the insulin receptor gene

DEFF Research Database (Denmark)

Højlund, K.; Wojtaszewski, Jørgen; Birk, Jesper Bratz

2006-01-01

AIMS/HYPOTHESIS: Recently we reported the coexistence of postprandial hypoglycaemia and moderate insulin resistance in heterozygous carriers of the Arg1174Gln mutation in the insulin receptor gene (INSR). Controlled studies of in vivo insulin signalling in humans with mutant INSR are unavailable,...

Evaluation of drought response of two poplar clones (Populus x canadensis Monch 'I-214' and P. deltoides Marsh. 'Dvina') through high resolution analysis of stem growth.

Science.gov (United States)

Giovannelli, Alessio; Deslauriers, Annie; Fragnelli, Giuseppe; Scaletti, Luciano; Castro, Gaetano; Rossi, Sergio; Crivellaro, Alan

2007-01-01

Different irrigation effects on stem radius variation (DeltaR) and maximum daily shrinkage (MDS) in Populus deltoides 'Dvina' and Populusxcanadensis 'I-214' were studied to assess differences in drought tolerance between clones. One-year-old trees growing in concrete tanks were submitted to two irrigation regimes (natural rainfall and irrigation) from 24 June to 10 August, and DeltaR was monitored by automatic point dendrometers. Independently of the irrigation regime, 'Dvina' showed a higher stem radial increment than 'I-214'. In both clones, the first response to changed soil water content was a significant increase in MDS, whilst DeltaR decreased about 20 d later when pre-dawn leaf water potential (Psipd) dropped below -0.4 MPa. However, they displayed different strategies to overcome drought. 'Dvina' maintained a positive DeltaR for longer than 'I-214', which had lower leaf Psipd and greater leaf abscission at the end of the drought period. After irrigation resumed, 'Dvina' showed a higher capacity to restore stem growth. 'I-214' was probably unable to recover secondary growth because of higher leaf abscission during drought stress and the production of newly expanded leaves during recovery. It is concluded that the larger radial growth of 'Dvina' derived from a better water use (carbon uptake versus water loss) than 'I-214' under limited water availability.

The response of high and low polyamine producing cell lines to aluminum and calcium stress

Science.gov (United States)

Sridev Mohapatra; Smita Cherry; Rakesh Minocha; Rajtilak Majumdar; Palaniswamy Thangavel; Stephanie Long; Subhash C. Minocha

2010-01-01

The diamine putrescine (Put) has been shown to accumulate in tree leaves in response to high Al and low Ca in the soil, leading to the suggestion that this response may provide a physiological advantage to leaf cells under conditions of Al stress. The increase in Put is reversed by Ca supplementation in the soil. Using two cell lines of poplar (Populus nigra...

Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism.

Science.gov (United States)

Frazier, T W; Embacher, R; Tilot, A K; Koenig, K; Mester, J; Eng, C

2015-09-01

PTEN is a tumor suppressor associated with an inherited cancer syndrome and an important regulator of ongoing neural connectivity and plasticity. The present study examined molecular and phenotypic characteristics of individuals with germline heterozygous PTEN mutations and autism spectrum disorder (ASD) (PTEN-ASD), with the aim of identifying pathophysiologic markers that specifically associate with PTEN-ASD and that may serve as targets for future treatment trials. PTEN-ASD patients (n=17) were compared with idiopathic (non-PTEN) ASD patients with (macro-ASD, n=16) and without macrocephaly (normo-ASD, n=38) and healthy controls (n=14). Group differences were evaluated for PTEN pathway protein expression levels, global and regional structural brain volumes and cortical thickness measures, neurocognition and adaptive behavior. RNA expression patterns and brain characteristics of a murine model of Pten mislocalization were used to further evaluate abnormalities observed in human PTEN-ASD patients. PTEN-ASD had a high proportion of missense mutations and showed reduced PTEN protein levels. Compared with the other groups, prominent white-matter and cognitive abnormalities were specifically associated with PTEN-ASD patients, with strong reductions in processing speed and working memory. White-matter abnormalities mediated the relationship between PTEN protein reductions and reduced cognitive ability. The Pten(m3m4) murine model had differential expression of genes related to myelination and increased corpus callosum. Processing speed and working memory deficits and white-matter abnormalities may serve as useful features that signal clinicians that PTEN is etiologic and prompting referral to genetic professionals for gene testing, genetic counseling and cancer risk management; and could reveal treatment targets in trials of treatments for PTEN-ASD.

Evaluation of Populus and Salix continuously irrigated with landfill leachate II. soils and early tree development.

Science.gov (United States)

Zalesny, Ronald S; Bauer, Edmund O

2007-01-01

Soil contaminant levels and early tree growth data are helpful for assessing phytoremediation systems. Populus (DN17, DN182, DN34, NM2, and NM6) and Salix (94003, 94012, S287, S566, and SX61) genotypes were irrigated with landfill leachate or municipal water and tested for differences in (1) element concentrations (P, K, Ca, Mg, S, Zn, B, Mn, Fe, Cu, Al, and Na) of a topsoil layer and a layer of sand in tanks with a cover crop of trees or no trees and (2) height, diameter, volume, and dry mass of leaves, stems, and roots. Trees were irrigated with leachate or water during the final 12 wk of the 18-wk study. Differences in most soil element concentrations were negligible (P > 0.05) for irrigation treatments and cover main effects. Phosphorous, K, Mg, S, Zn, Mn, Fe, and Al concentrations were greater in topsoil than sand (P = 0.0011 for Mg; P tree yield. From a practical standpoint, these results may be used as a baseline for the development of future remediation systems.

Metabolic functions of Pseudomonas fluorescens strains from Populus deltoides depend on rhizosphere or endosphere isolation compartment

Directory of Open Access Journals (Sweden)

Collin M Timm

2015-10-01

Full Text Available The bacterial microbiota of plants is diverse, with 1,000s of operational taxonomic units (OTUs associated with any individual plant. In this work we investigate the differences between 19 sequenced Pseudomonas fluorescens strains, isolated from Populus deltoides rhizosphere and endosphere and which represent a single OTU, using phenotypic analysis, comparative genomics, and metabolic models. While no traits were exclusive to either endosphere or rhizosphere P. fluorescens isolates, multiple pathways relevant for plant-bacterial interactions are enriched in endosphere isolate genomes. Further, growth phenotypes such as phosphate solubilization, protease activity, denitrification and root growth promotion are biased towards endosphere isolates. Endosphere isolates have significantly more metabolic pathways for plant signaling compounds and an increased metabolic range that includes utilization of energy rich nucleotides and sugars, consistent with endosphere colonization. Rhizosphere P. fluorescens have fewer pathways representative of plant-bacterial interactions but show metabolic bias towards chemical substrates often found in root exudates. This work reveals the diverse functions that may contribute to colonization of the endosphere by bacteria and are enriched among closely related isolates.

Determination of As in tree-rings of poplar (Populus alba L.) by U-shaped DC arc.

Science.gov (United States)

Marković, D M; Novović, I; Vilotić, D; Ignjatović, Lj

2009-04-01

An argon-stabilized U-shaped DC arc with a system for aerosol introduction was used for determination of As in poplar (Populus alba L.) tree-rings. After optimization of the operating parameters and selection of the most appropriate signal integration time (30 s), the limit of detection for As was reduced to 15.0 ng/mL. This detection limit obtained with the optimal integration time was compared with those for other methods: inductively coupled plasma-atomic emission spectrometry (ICP-AES), direct coupled plasma-atomic emission spectrometry (DCP-AES), microwave induced plasma-atomic emission spectrometry (MIP-AES) and improved thermospray flame furnace atomic absorption spectrometry (TS-FF-AAS). Arsenic is toxic trace element which can adversely affect plant, animal and human health. As an indicator of environment pollution we collected poplar tree-rings from two locations. The first area was close to the "Nikola Tesla" (TENT-A) power plant, Obrenovac, while the other was in the urban area of Novi Sad. In all cases elevated average concentrations of As were registered in poplar tree-rings from the Obrenovac location.

One year variability of peak heights, heterozygous balance and inter-locus balance for the DNA positive control of AmpFℓSTR© Identifiler© STR kit.

Science.gov (United States)

Debernardi, A; Suzanne, E; Formant, A; Pène, L; Dufour, A B; Lobry, J R

2011-01-01

Multivariate analyses of 205 positive control experiments in an AmpFℓSTR© Identifiler© STR kit were used to analyze the factors affecting peak heights at 16 loci. Peak heights were found to be highly correlated between loci and there was evidence for a difference in sensitivity of the two genetic analyzers in the blue channel. Heterozygous balance response at 10 loci was found to behave as a random variable following a beta-distribution with typical median values of 90%, without locus or genetic analyzer effect. Inter-locus balance at 16 loci was influenced by the blue channel effect and a temporal switch of unexplained origin. The implications of these results for the choice of minimum threshold values in quality control are discussed. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

Clinical Features and Long-Term Outcome of Nephrotic Syndrome Associated with Heterozygous NPHS1 and NPHS2 Mutations

Science.gov (United States)

Caridi, Gianluca; Gigante, Maddalena; Ravani, Pietro; Trivelli, Antonella; Barbano, Giancarlo; Scolari, Francesco; Dagnino, Monica; Murer, Luisa; Murtas, Corrado; Edefonti, Alberto; Allegri, Landino; Amore, Alessandro; Coppo, Rosanna; Emma, Francesco; De Palo, Tommaso; Penza, Rosa; Gesualdo, Loreto; Ghiggeri, Gian Marco

2009-01-01

Background and objectives: Mutations in nephrin (NPHS1) and podocin (NPHS2) genes represent a major cause of idiopathic nephrotic syndrome (NS) in children. It is not yet clear whether the presence of a single mutation acts as a modifier of the clinical course of NS. Design, setting, participants, & measurements: We reviewed the clinical features of 40 patients with NS associated with heterozygous mutations or variants in NPHS1 (n = 7) or NPHS2 (n = 33). Long-term renal survival probabilities were compared with those of a concurrent cohort with idiopathic NS. Results: Patients with a single mutation in NPHS1 received a diagnosis before those with potentially nongenetic NS and had a good response to therapies. Renal function was normal in all cases. For NPHS2, six patients had single heterozygous mutations, six had a p.P20L variant, and 21 had a p.R229Q variant. Age at diagnosis and the response to drugs were comparable in all NS subgroups. Overall, they had similar renal survival probabilities as non-NPHS1/NPHS2 cases (log-rank χ2 0.84, P = 0.656) that decreased in presence of resistance to therapy (P < 0.001) and in cases with renal lesions of glomerulosclerosis and IgM deposition (P < 0.001). Cox regression confirmed that the only significant predictor of dialysis was resistance to therapy. Conclusions: Our data indicate that single mutation or variant in NPHS1 and NPHS2 does not modify the outcome of primary NS. These patients should be treated following consolidated schemes and have good chances for a good long-term outcome. PMID:19406966

Nature vs. nurture: can enrichment rescue the behavioural phenotype of BDNF heterozygous mice?

Science.gov (United States)

Chourbaji, Sabine; Brandwein, Christiane; Vogt, Miriam A; Dormann, Christof; Hellweg, Rainer; Gass, Peter

2008-10-10

In earlier experiments we have demonstrated that group-housing in a rather impoverished "standard" environment can be a crucial stress factor in male C57Bl/6 mice. The present study aimed at investigating the effect of combining a probable genetic vulnerability--postulated by the "Neurotrophin Hypothesis of Depression"--with the potentially modulating influence of a stressful environment such as "impoverished" standard housing conditions. For that purpose mice with a partial deletion of brain-derived neurotrophic factor (BDNF) were group-housed under standard and enriched housing conditions and analysed in a well-established test battery for emotional behaviours. Standard group-housing affected emotional behaviour in male and female BDNF heterozygous mice, causing an increase in anxiety, changes in exploration as well as nociception. Providing the animals' cages with supplementary enrichment, however, led to a rescue of emotional alterations, which emphasises the significance of external factors and their relevance for a valid investigation of genetic aspects in these mutants as well as others, which may be examined in terms of stress-responsiveness or emotionality.

Dendroclimatic potential of plains cottonwood (Populus deltoides subsp. monilifera) from the Northern Great Plains, USA

Science.gov (United States)

Edmonson, Jesse; Friedman, Jonathan; Meko, David; Touchan, Ramzi; Scott, Julian; Edmonson, Alan

2014-01-01

A new 368-year tree-ring chronology (A.D. 1643–2010) has been developed in western North Dakota using plains cottonwood (Populus deltoides subsp. monilifera) growing on the relatively undisturbed floodplain of the Little Missouri River in the North Unit of Theodore Roosevelt National Park. We document many slow-growing living trees between 150–370 years old that contradict the common understanding that cottonwoods grow fast and die young. In this northern location, cottonwood produces distinct annual rings with dramatic interannual variability that strongly crossdate. The detrended tree-ring chronology is significantly positively correlated with local growing season precipitation and soil moisture conditions (r  =  0.69). This time series shows periods of prolonged low radial tree growth during the known droughts of the instrumental record (e.g. 1931–1939 and 1980–1981) and also during prehistory (e.g. 1816–1823 and 1856–1865) when other paleoclimate studies have documented droughts in this region. Tree rings of cottonwood will be a useful tool to help reconstruct climate, streamflow, and the floodplain history of the Little Missouri River and other northern river systems.

Diurnal changes in photosynthetic parameters of Populus tremuloides, modulated by elevated concentrations of CO2 and/or O3 and daily climatic variation

International Nuclear Information System (INIS)

Kets, Katre; Darbah, Joseph N.T.; Sober, Anu; Riikonen, Johanna; Sober, Jaak; Karnosky, David F.

2010-01-01

The diurnal changes in light-saturated photosynthesis (Pn) under elevated CO 2 and/or O 3 in relation to stomatal conductance (g s ), water potential, intercellular [CO 2 ], leaf temperature and vapour-pressure difference between leaf and air (VPD L ) were studied at the Aspen FACE site. Two aspen (Populus tremuloides Michx.) clones differing in their sensitivity to ozone were measured. The depression in Pn was found after 10:00 h. The midday decline in Pn corresponded with both decreased g s and decreased Rubisco carboxylation efficiency, Vc max . As a result of increasing VPD L , g s decreased. Elevated [CO 2 ] resulted in more pronounced midday decline in Pn compared to ambient concentrations. Moreover, this decline was more pronounced under combined treatment compared to elevated CO 2 treatment. The positive impact of CO 2 on Pn was relatively more pronounced in days with environmental stress but relatively less pronounced during midday depression. The negative impact of ozone tended to decrease in both cases. - Diurnal and seasonal patterns of environmental stress (drought, high air temperature) affects a relative impact of elevated concentrations of CO 2 and O 3 on trees.

Proteome analysis reveals an energy-dependent central process for Populus×canadensis seed germination.

Science.gov (United States)

Zhang, Hong; Zhou, Ke-Xin; Wang, Wei-Qing; Liu, Shu-Jun; Song, Song-Quan

2017-06-01

Poplar (Populus×canadensis) seeds rapidly germinated in darkness at 10, 15, and 20°C and reached 50% seed germination after about 22, 4.5, and 3.5h, respectively. Germination of poplar seeds was markedly inhibited by abscisic acid (ABA) at 50μM and cycloheximide (CHX) at 100μM, and these inhibitive roles were temperature-dependent. In the present study, mature poplar seeds were used to investigate the differentially changed proteome of seeds germinating in water, ABA, and CHX. A total of 130 protein spots showed a significant change (1.5-fold increase/decrease, Pgermination of poplar seeds is closely related with the increase in those proteins involved in amino acid and lipid metabolism, the tricarboxylic acid cycle and pentose phosphate pathway, protein synthesis and destination, cell defense and rescue, and degradation of storage proteins. ABA and CHX inhibit the germination of poplar seeds by decreasing the protein abundance associated with protein proteolysis, protein folding, and storage proteins. We conclude that poplar seed germination is an energy-dependent active process, and is accompanied by increasing amino acid activation, protein synthesis and destination, as well as cell defense and rescue, and degradation of storage proteins. Copyright © 2017 Elsevier GmbH. All rights reserved.

Changes in lignocellulosic supramolecular and ultrastructure during dilute acid pretreatment of Populus and switchgrass

International Nuclear Information System (INIS)

Foston, Marcus; Ragauskas, Art J.

2010-01-01

Dilute acid pretreatment (DAP) is commonly employed prior to enzymatic deconstruction of cellulose to increase overall sugar and subsequent ethanol yields from downstream bioconversion processes. Typically optimization of pretreatment is evaluated by determining hemicellulose removal, subsequent reactivity towards enzymatic deconstruction, and recoverable polysaccharide yields. In this study, the affect of DAP on the supramolecular and ultrastructure of lignocellulosic biomass was evaluated. A series of dilute acidic pretreatments, employing ∼0.10-0.20 mol/m 3 H 2 SO 4 at ∼160-180 o C, for varying residence times were conducted on both Populus and switchgrass samples. The untreated and pretreated biomass samples were characterized by carbohydrate and lignin analysis, gel permeation chromatography (GPC) and 13 C cross polarization magic angle spinning (CPMAS) NMR spectroscopy. GPC analysis shows a reduction in the molecular weight of cellulose and change in its polydispersity index (PDI) with increasing residence time, indicating that pretreatment is actually degrading the cellulose chains. 13 C CPMAS and non-linear line-fitting of the C 4 region in the carbon spectrum of the isolated cellulose not only showed that the crystallinity index increases with residence time, but that the lateral fibril dimension (LFD) and lateral fibril aggregate dimension (LFAD) increase as well.

Genetic Variation in Functional Traits Influences Arthropod Community Composition in Aspen (Populus tremula L.)

Science.gov (United States)

Robinson, Kathryn M.; Ingvarsson, Pär K.; Jansson, Stefan; Albrectsen, Benedicte R.

2012-01-01

We conducted a study of natural variation in functional leaf traits and herbivory in 116 clones of European aspen, Populus tremula L., the Swedish Aspen (SwAsp) collection, originating from ten degrees of latitude across Sweden and grown in a common garden. In surveys of phytophagous arthropods over two years, we found the aspen canopy supports nearly 100 morphospecies. We identified significant broad-sense heritability of plant functional traits, basic plant defence chemistry, and arthropod community traits. The majority of arthropods were specialists, those coevolved with P. tremula to tolerate and even utilize leaf defence compounds. Arthropod abundance and richness were more closely related to plant growth rates than general chemical defences and relationships were identified between the arthropod community and stem growth, leaf and petiole morphology, anthocyanins, and condensed tannins. Heritable genetic variation in plant traits in young aspen was found to structure arthropod community; however no single trait drives the preferences of arthropod folivores among young aspen genotypes. The influence of natural variation in plant traits on the arthropod community indicates the importance of maintaining genetic variation in wild trees as keystone species for biodiversity. It further suggests that aspen can be a resource for the study of mechanisms of natural resistance to herbivores. PMID:22662190

Genetic variation in functional traits influences arthropod community composition in aspen (Populus tremula L..

Directory of Open Access Journals (Sweden)

Kathryn M Robinson

Full Text Available We conducted a study of natural variation in functional leaf traits and herbivory in 116 clones of European aspen, Populus tremula L., the Swedish Aspen (SwAsp collection, originating from ten degrees of latitude across Sweden and grown in a common garden. In surveys of phytophagous arthropods over two years, we found the aspen canopy supports nearly 100 morphospecies. We identified significant broad-sense heritability of plant functional traits, basic plant defence chemistry, and arthropod community traits. The majority of arthropods were specialists, those coevolved with P. tremula to tolerate and even utilize leaf defence compounds. Arthropod abundance and richness were more closely related to plant growth rates than general chemical defences and relationships were identified between the arthropod community and stem growth, leaf and petiole morphology, anthocyanins, and condensed tannins. Heritable genetic variation in plant traits in young aspen was found to structure arthropod community; however no single trait drives the preferences of arthropod folivores among young aspen genotypes. The influence of natural variation in plant traits on the arthropod community indicates the importance of maintaining genetic variation in wild trees as keystone species for biodiversity. It further suggests that aspen can be a resource for the study of mechanisms of natural resistance to herbivores.

Arbuscular mycorrhizal fungi differentially affect the response to high zinc concentrations of two registered poplar clones

International Nuclear Information System (INIS)

Lingua, Guido; Franchin, Cinzia; Todeschini, Valeria; Castiglione, Stefano; Biondi, Stefania; Burlando, Bruno; Parravicini, Valerio; Torrigiani, Patrizia; Berta, Graziella

2008-01-01

The effects of a high concentration of zinc on two registered clones of poplar (Populus alba Villafranca and Populus nigra Jean Pourtet), inoculated or not with two arbuscular mycorrhizal fungi (Glomus mosseae or Glomus intraradices) before transplanting them into polluted soil, were investigated, with special regard to the extent of root colonization by the fungi, plant growth, metal accumulation in the different plant organs, and leaf polyamine concentration. Zinc accumulation was lower in Jean Pourtet than in Villafranca poplars, and it was mainly translocated to the leaves; the metal inhibited mycorrhizal colonization, compromised plant growth, and, in Villafranca, altered the putrescine profile in the leaves. Most of these effects were reversed or reduced in plants pre-inoculated with G. mosseae. Results indicate that poplars are suitable for phytoremediation purposes, confirming that mycorrhizal fungi can be useful for phytoremediation, and underscore the importance of appropriate combinations of plant genotypes and fungal symbionts. - Inoculation with arbuscular mycorrhizal fungi can improve poplar tolerance to heavy metals in phytoremediation programmes

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.

Science.gov (United States)

Méndez-Vidal, Cristina; González-Del Pozo, María; Vela-Boza, Alicia; Santoyo-López, Javier; López-Domingo, Francisco J; Vázquez-Marouschek, Carmen; Dopazo, Joaquin; Borrego, Salud; Antiñolo, Guillermo

2013-01-01

Retinitis pigmentosa (RP) is an inherited retinal dystrophy characterized by extreme genetic and clinical heterogeneity. Thus, the diagnosis is not always easily performed due to phenotypic and genetic overlap. Current clinical practices have focused on the systematic evaluation of a set of known genes for each phenotype, but this approach may fail in patients with inaccurate diagnosis or infrequent genetic cause. In the present study, we investigated the genetic cause of autosomal recessive RP (arRP) in a Spanish family in which the causal mutation has not yet been identified with primer extension technology and resequencing. We designed a whole-exome sequencing (WES)-based approach using NimbleGen SeqCap EZ Exome V3 sample preparation kit and the SOLiD 5500×l next-generation sequencing platform. We sequenced the exomes of both unaffected parents and two affected siblings. Exome analysis resulted in the identification of 43,204 variants in the index patient. All variants passing filter criteria were validated with Sanger sequencing to confirm familial segregation and absence in the control population. In silico prediction tools were used to determine mutational impact on protein function and the structure of the identified variants. Novel Usher syndrome type 2A (USH2A) compound heterozygous mutations, c.4325T>C (p.F1442S) and c.15188T>G (p.L5063R), located in exons 20 and 70, respectively, were identified as probable causative mutations for RP in this family. Family segregation of the variants showed the presence of both mutations in all affected members and in two siblings who were apparently asymptomatic at the time of family ascertainment. Clinical reassessment confirmed the diagnosis of RP in these patients. Using WES, we identified two heterozygous novel mutations in USH2A as the most likely disease-causing variants in a Spanish family diagnosed with arRP in which the cause of the disease had not yet been identified with commonly used techniques. Our data

Generation of an ASS1 heterozygous knockout human embryonic stem cell line, WAe001-A-13, using CRISPR/Cas9

Directory of Open Access Journals (Sweden)

Fang Yuan

2018-01-01

Full Text Available The ASS1 gene encodes argininosuccinate synthetase-1, a cytosolic enzyme with a critical role in the urea cycle. Mutations are found in all ASS1 exons and cause the autosomal recessive disorder citrullinemia. Using CRISPR/Cas9-editing, we established the WAe001-A-13 cell line, which was heterozygous for an ASS1 mutation, from the human embryonic stem cell line H1. The WAe001-A-13 cell line maintained the pluripotent phenotype, the ability to differentiate into all three germ layers and a normal karyotype.

Investigations on the nutrient demands of different balsam poplar clones (Populus trichocarpa Torr. et Grey) based on growth, nutrient uptake, and vapor exchange. Untersuchungen ueber die Naehrstoffansprueche verschiedener Balsam-Pappelklone (Populus trichocarpa Torr. et Grey) in Hinsicht auf das Wachstum, die Naehrstoffaufnahme und den Gaswechsel

Energy Technology Data Exchange (ETDEWEB)

Griese, C.

1991-01-01

This work tries to describe the nutrient demands of six different, very fast-growing clones of the species Populus trichocarpa Torr. Et. Grey. Relevant are the capability for taking up different nutrients, and the plants' efficiency in using these nutrients for vapour exchange of the leaves (photosynthesis, respiration in the dark, transpiration) as well as for increasing biomass. A further aim pursued with these measurements is the attempt to explain the different growth of these six popular clones. Here, field experiments have shown a gradiation of the clones' growth performance. From the first to the sixth clone, growth performance declines steadily. Should there be differences among the clones as to the physiological, biometric and phenological variables to be investigated, then this work might lead to the identification of growth-determining factors suitable for postulating of the investigated clones. (orig.).

Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son.

Science.gov (United States)

Arcot Sadagopan, Karthikeyan; Battista, Robert; Keep, Rosanne B; Capasso, Jenina E; Levin, Alex V

2015-06-01

Leber congenital amaurosis (LCA) is most often an autosomal recessive disorder. We report a father and son with autosomal dominant LCA due to a mutation in the CRX gene. DNA screening using an allele specific assay of 90 of the most common LCA-causing variations in the coding sequences of AIPL1, CEP290, CRB1, CRX, GUCY2D, RDH12 and RPE65 was performed on the father. Automated DNA sequencing of his son examining exon 3 of the CRX gene was subsequently performed. Both father and son have a heterozygous single base pair deletion of an adenine at codon 153 in the coding sequence of the CRX gene resulting in a frameshift mutation. Mutations involving the CRX gene may demonstrate an autosomal dominant inheritance pattern for LCA.

Significance of Lignin S/G Ratio in Biomass Recalcitrance of Populus trichocarpa Variants for Bioethanol Production

Energy Technology Data Exchange (ETDEWEB)

Yoo, Chang Geun [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Dumitrache, Alexandru [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Muchero, Wellington [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Natzke, Jace [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Akinosho, Hannah [Georgia Inst. of Technology, Atlanta, GA (United States); Li, Mi [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Sykes, Robert W. [National Renewable Energy Lab. (NREL), Golden, CO (United States); Brown, Steven D. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Davison, Brian [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Tuskan, Gerald A. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Pu, Yunqiao [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Ragauskas, Arthur J. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Univ. of Tennessee, Knoxville, TN (United States)

2017-12-11

Lignin S/G ratio has been investigated as an important factor in biomass recalcitrance to bioethanol production. Because of the complexity and variety of biomass, recalcitrance was also reportedly influenced by several other factors, such as total lignin content, degree of cellulose polymerization, etc. In addition, the effect of S/G ratio on biomass conversion is not uniform across plant species. Herein, 11 Populus trichocarpa natural variants grown under the same conditions with similar total lignin content were selected to minimize the effects of other factors. The lignin S/G ratio of the selected P. trichocarpa natural variants showed negative correlations with p-hydroxybenzoate (PB) and β–5 linkage contents, while it had positive ones with β-O-4 linkage, lignin molecular weight, and ethanol production. In conclusion, this study showed the importance of lignin S/G ratio as an independent recalcitrance factor that may aid future energy crop engineering and biomass conversion strategies.

Significance of Lignin S/G Ratio in Biomass Recalcitrance of Populus trichocarpa Variants for Bioethanol Production

Energy Technology Data Exchange (ETDEWEB)

Yoo, Chang Geun [BioEnergy; amp, Center for BioEnergy Innovation, Biosciences; UT−ORNL; Dumitrache, Alexandru [BioEnergy; amp, Center for BioEnergy Innovation, Biosciences; Muchero, Wellington [BioEnergy; amp, Center for BioEnergy Innovation, Biosciences; Natzke, Jace [BioEnergy; amp, Center for BioEnergy Innovation, Biosciences; Akinosho, Hannah [School; Li, Mi [BioEnergy; amp, Center for BioEnergy Innovation, Biosciences; UT−ORNL; Sykes, Robert W. [National Renewable Energy Laboratory, U.S. Department of Energy, 15013 Denver West Parkway, Golden, Colorado 80401, United States; Brown, Steven D. [BioEnergy; amp, Center for BioEnergy Innovation, Biosciences; Davison, Brian [BioEnergy; amp, Center for BioEnergy Innovation, Biosciences; Tuskan, Gerald A. [BioEnergy; amp, Center for BioEnergy Innovation, Biosciences; Pu, Yunqiao [BioEnergy; amp, Center for BioEnergy Innovation, Biosciences; UT−ORNL; Ragauskas, Arthur J. [BioEnergy; amp, Center for BioEnergy Innovation, Biosciences; UT−ORNL; Department; amp, Center for Renewable

2017-12-27

Lignin S/G ratio has been investigated as an important factor in biomass recalcitrance to bioethanol production. Because of the complexity and variety of biomass, recalcitrance was also reportedly influenced by several other factors, such as total lignin content, degree of cellulose polymerization, etc. In addition, the effect of S/G ratio on biomass conversion is not uniform across plant species. Herein, 11 Populus trichocarpa natural variants grown under the same conditions with similar total lignin content were selected to minimize the effects of other factors. The lignin S/G ratio of the selected P. trichocarpa natural variants showed negative correlations with p-hydroxybenzoate (PB) and ..beta..-5 linkage contents, while it had positive ones with ..beta..-O-4 linkage, lignin molecular weight, and ethanol production. This study showed the importance of lignin S/G ratio as an independent recalcitrance factor that may aid future energy crop engineering and biomass conversion strategies.

The detection of heterozygous familial hypercholesterolemia in Ireland.

LENUS (Irish Health Repository)

O'Kane, Maurice J

2012-05-01

Heterozygous familial hypercholesterolemia (HeFH) is an autosomal dominant condition with a population prevalence of 1 in 500, and is associated with significant cardiovascular morbidity and mortality. It may be caused by mutations in the low-density lipoprotein (LDL) receptor, apolipoprotein B100 (Apo B100), or proprotein convertase subtilisin\\/kexin type 9 (PCSK9) genes, with over 1,000 causative mutations described. Statin therapy in HeFH is considered effective and safe. Audit data suggest that approximately 80% of the putative HeFH population remains unidentified and, therefore, there is a need to develop a strategy for the identification of affected individuals so that early lipid-lowering treatment may be offered. There is good evidence showing the effectiveness and acceptability of HeFH screening programs in Europe. The authors describe a protocol for an all island approach to HeFH detection in the Republic of Ireland\\/Northern Ireland. Index cases will be identified by opportunistic screening using the Simon Broome, or Make Early Diagnosis to Prevent Early Death (MedPed) and World Health Organization (WHO) criteria. Patients identified as "definite," "probable," or "possible" HeFH criteria will be offered genetic testing. The authors expect causative mutations to be identified in approximately 80% of patients with "definite" HeFH but in only approximately 20% of patients with "possible" HeFH. Cascade screening will be undertaken in first-degree relatives of the index case using genetic testing (where a causative mutation has been identified), or otherwise using LDL cholesterol concentration. The establishment of a HeFH screening program on an all-island basis will require: expansion of the existing molecular genetics diagnostic services, the establishment of a cohort of nurses\\/genetic counselors, a HeFH database to support cascade testing, the development of a network of lipid clinics (in a primary or secondary care setting), and an educational

Partitioning of Multivariate Phenotypes using Regression Trees Reveals Complex Patterns of Adaptation to Climate across the Range of Black Cottonwood (Populus trichocarpa

Directory of Open Access Journals (Sweden)

Regis Wendpouire Oubida

2015-03-01

Full Text Available Local adaptation to climate in temperate forest trees involves the integration of multiple physiological, morphological, and phenological traits. Latitudinal clines are frequently observed for these traits, but environmental constraints also track longitude and altitude. We combined extensive phenotyping of 12 candidate adaptive traits, multivariate regression trees, quantitative genetics, and a genome-wide panel of SNP markers to better understand the interplay among geography, climate, and adaptation to abiotic factors in Populus trichocarpa. Heritabilities were low to moderate (0.13 to 0.32 and population differentiation for many traits exceeded the 99th percentile of the genome-wide distribution of FST, suggesting local adaptation. When climate variables were taken as predictors and the 12 traits as response variables in a multivariate regression tree analysis, evapotranspiration (Eref explained the most variation, with subsequent splits related to mean temperature of the warmest month, frost-free period (FFP, and mean annual precipitation (MAP. These grouping matched relatively well the splits using geographic variables as predictors: the northernmost groups (short FFP and low Eref had the lowest growth, and lowest cold injury index; the southern British Columbia group (low Eref and intermediate temperatures had average growth and cold injury index; the group from the coast of California and Oregon (high Eref and FFP had the highest growth performance and the highest cold injury index; and the southernmost, high-altitude group (with high Eref and low FFP performed poorly, had high cold injury index, and lower water use efficiency. Taken together, these results suggest variation in both temperature and water availability across the range shape multivariate adaptive traits in poplar.

Comparative study of volatile components from male and female flower buds of Populus × tomentosa by HS-SPME-GC-MS.

Science.gov (United States)

Xu, Liang; Liu, Haiping; Ma, Yucui; Wu, Cui; Li, Ruiqi; Chao, Zhimao

2018-06-13

The differences of volatile components in male (MFB) and female flower buds (FFB) of Populus × tomentosa were analysed and compared by HS-SPME with GC-MS for the first time. A total of 34 compounds were identified. Two clusters were clearly divided into male and female by hierarchical clustering analysis. Both the male and female flower buds showed methyl salicylate (22.83 and 24.09%, respectively) and 2-hydroxy-benzaldehyde (10.05 and 12.41%, respectively) as the main volatile constituents. The content of 2-cyclohexen-1-one, benzyl benzoate, and methyl benzoate in FFB was remarkably higher than in MFB. In contrast, the content of ethyl benzoate in MFB was greater than that in FFB. The phenomena showed the characteristic differences between MFB and FFB of P. × tomentosa, which enriched the basic studies on dioecious plant.

Altered hippocampal replay is associated with memory impairment in mice heterozygous for the Scn2a gene.

Science.gov (United States)

Middleton, Steven J; Kneller, Emily M; Chen, Shuo; Ogiwara, Ikuo; Montal, Mauricio; Yamakawa, Kazuhiro; McHugh, Thomas J

2018-06-04

An accumulating body of experimental evidence has implicated hippocampal replay occurring within sharp wave ripples (SPW-Rs) as crucial for learning and memory in healthy subjects. This raises speculation that neurological disorders impairing memory disrupt either SPW-Rs or their underlying neuronal activity. We report that mice heterozygous for the gene Scn2a, a site of frequent de novo mutations in humans with intellectual disability, displayed impaired spatial memory. While we observed no changes during encoding, to either single place cells or cell assemblies, we identified abnormalities restricted to SPW-R episodes that manifest as decreased cell assembly reactivation strengths and truncated hippocampal replay sequences. Our results suggest that alterations to hippocampal replay content may underlie disease-associated memory deficits.

Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.

Science.gov (United States)

Kullar, Peter J; Gomez-Duran, Aurora; Gammage, Payam A; Garone, Caterina; Minczuk, Michal; Golder, Zoe; Wilson, Janet; Montoya, Julio; Häkli, Sanna; Kärppä, Mikko; Horvath, Rita; Majamaa, Kari; Chinnery, Patrick F

2018-01-01

The m.1555A>G mtDNA variant causes maternally inherited deafness, but the reasons for the highly variable clinical penetrance are not known. Exome sequencing identified a heterozygous start loss mutation in SSBP1, encoding the single stranded binding protein 1 (SSBP1), segregating with hearing loss in a multi-generational family transmitting m.1555A>G, associated with mtDNA depletion and multiple deletions in skeletal muscle. The SSBP1 mutation reduced steady state SSBP1 levels leading to a perturbation of mtDNA metabolism, likely compounding the intra-mitochondrial translation defect due to m.1555A>G in a tissue-specific manner. This family demonstrates the importance of rare trans-acting genetic nuclear modifiers in the clinical expression of mtDNA disease. © The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain.

Effects of Simulated Nitrogen Deposition on Soil Respiration in a Populus euphratica Community in the Ebinur Lake Area, a Desert Ecosystem of Northwestern China.

Science.gov (United States)

He, Xuemin; Lv, Guanghui; Qin, Lu; Chang, Shunli; Yang, Min; Yang, Jianjun; Yang, Xiaodong

2015-01-01

One of the primary limiting factors for biological activities in desert ecosystems is nitrogen (N). This study therefore examined the effects of N and investigated the responses of an arid ecosystem to global change. We selected the typical desert plant Populus euphratica in a desert ecosystem in the Ebinur Lake area to evaluate the effects of N deposition on desert soil respiration. Three levels of N deposition (0, 37.5 and 112.5 kg·N·ha-1·yr-1) were randomly artificially provided to simulate natural N deposition. Changes in the soil respiration rates were measured from July to September in both 2010 and 2013, after N deposition in April 2010. The different levels of N deposition affected the total soil N, soil organic matter, soil C/N ratio, microorganism number, and microbial community structure and function. However, variable effects were observed over time in relation to changes in the magnitude of N deposition. Simulated high N deposition significantly reduced the soil respiration rate by approximately 23.6±2.5% (Pdesert ecosystem of the Ebinur Lake area, N deposition indirectly changes the soil respiration rate by altering soil properties.

Characterization of genomic sequence showing strong association with polyembryony among diverse Citrus species and cultivars, and its synteny with Vitis and Populus.

Science.gov (United States)

Nakano, Michiharu; Shimada, Takehiko; Endo, Tomoko; Fujii, Hiroshi; Nesumi, Hirohisa; Kita, Masayuki; Ebina, Masumi; Shimizu, Tokurou; Omura, Mitsuo

2012-02-01

Polyembryony, in which multiple somatic nucellar cell-derived embryos develop in addition to the zygotic embryo in a seed, is common in the genus Citrus. Previous genetic studies indicated polyembryony is mainly determined by a single locus, but the underlying molecular mechanism is still unclear. As a step towards identification and characterization of the gene or genes responsible for nucellar embryogenesis in Citrus, haplotype-specific physical maps around the polyembryony locus were constructed. By sequencing three BAC clones aligned on the polyembryony haplotype, a single contiguous draft sequence consisting of 380 kb containing 70 predicted open reading frames (ORFs) was reconstructed. Single nucleotide polymorphism genotypes detected in the sequenced genomic region showed strong association with embryo type in Citrus, indicating a common polyembryony locus is shared among widely diverse Citrus cultivars and species. The arrangement of the predicted ORFs in the characterized genomic region showed high collinearity to the genomic sequence of chromosome 4 of Vitis vinifera and linkage group VI of Populus trichocarpa, suggesting that the syntenic relationship among these species is conserved even though V. vinifera and P. trichocarpa are non-apomictic species. This is the first study to characterize in detail the genomic structure of an apomixis locus determining adventitious embryony. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Selection on viability of individuals heterozygous for the temperature-sensitive lethal mutation l(2)M167DTS in experimental populations of Drosophila melanogaster

Czech Academy of Sciences Publication Activity Database

Kulikov, A. M.; Marec, František; Mitrofanov, V. G.

2005-01-01

Roč. 41, č. 6 (2005), s. 613-619 ISSN 1022-7954 Grant - others:Russian Foundation for Basic Research(RU) 02-04-50021; Program of the Presidium of the Russian Academy of Sciences "Dynamics of Gene Pools in Plants, Animals, and Humans"(RU) 10002-251/P-24/154-150/2004-04-111 Institutional research plan: CEZ:AV0Z50070508 Keywords : heterozygous Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 0.240, year: 2005

Wilson's disease: Rapid diagnosis and differentiation of heterozygous and homozygous carriers with 64CuCl2

International Nuclear Information System (INIS)

Wesch, H.; Przuntek, H.; Feist, D.; Wuerzburg Univ.; Heidelberg Univ.

1980-01-01

In the modified radiocopper test, a constant amount of copper and not of radioactivity is injected, a difference being made between males and females. The rate of incorporation of 64 Cu into caeruloplasmin and urinary excretion of nuclides is measured. It is a method with low radiation exposure, providing a definite diagnosis after 30 hours. This was demonstrated in 27 homozygous patients, 30 parents and 33 siblings, and 25 controls: a clear-cut diagnosis was made in all untreated homozygous patients. In five of eight patients treated with D-penicillamine for several years, the values were in the range of heterozygotes, so that the test makes treatment control possible. The recognition of heterozygous carriers is interfered with by contraceptives and infections. The results in control subjects were all widely outside the range for patients with Wilson's disease. (orig.) [de

Energy dynamics in Populus deltoides G3 Marsh agroforestry systems in eastern India

International Nuclear Information System (INIS)

Chaturvedi, O.P.; Das, D.K.

2005-01-01

Energy efficiency of Populus deltoides G 3 Marsh agroforestry of a 3-year-old system with intercropping of maize-wheat in crop I and pigeonpea in crop II and of a 9-year-old system with turmeric, a shade loving crop was studied at Pusa, Bihar in eastern India. Energy fixation, storage, net allocation in agronomic yield and energy released and exit from the 9-year-old system was 1.53, 4.30, 0.43 and 3.37 times in crop I and 1.67, 4.60, 0.53 and 3.30 times in crop II of the 3-year-old agroforestry system. The energy conservation efficiency in the 9-year-old system was higher (1.91%) as compared to crop I (1.24%) and crop II (1.15%) of the 3-year-old agroforestry system. The energy accumulation ratio in the 9-year-old system was 2.82 and 2.77 times higher in crop I and crop II, respectively, of the 3-year-old agroforestry system. The 3-year-old agroforestry system showed lower energy accumulation ratio resulting from less energy accumulation in perennial turnover in the from of leaf of tree and agricultural crops. The crop II system of the 3-year-old poplar agroforestry was more efficient system of management due to higher quanta of energy and higher cash return but one has to opt for shade loving intercrop turmeric with increase in age of the poplar plantation and more canopy closure

Organ and Tissue-specific Sucrose Transporters. Important Hubs in Gene and Metabolite Networks Regulating Carbon Use in Wood-forming Tissues of Populus

Energy Technology Data Exchange (ETDEWEB)

Harding, Scott A. [Univ. of Georgia, Athens, GA (United States); Tsai, Chung-Jui [Univ. of Georgia, Athens, GA (United States)

2016-01-04

The overall project objective was to probe the relationship between sucrose transporters and plant productivity in the biomass for biofuels woody perennial, Populus. At the time the proposal was written, sucrose transporters had already been investigated in many plant model systems, primarily with respect to the export of photosynthate sucrose from source leaves, and the uptake of sucrose in storage organs and seeds. Preliminary findings by the PI found that in Populus, sucrose transporter genes (SUTs) were well expressed in wood-forming tissues that comprise the feedstock for biofuels production. Because sucrose comprises by far the predominant form in which photosynthate is delivered from source organs to sink organs like roots and wood-forming tissues, SUTs control a gate that nominally at least could impact the allocation or partitioning of sucrose for potentially competing end uses like growth (stem biomass) and storage. In addition, water use might be conditioned by the way in which sucrose is distributed throughout the plant, and/or by the way in which sucrose is partitioned intracellularly. Several dozen transgenic lines were produced in year 1 of the project to perturb the expression ratio of multiple plasma membrane (PM) SUTs (intercellular trafficking), versus the single tonoplast membrane (TM) sucrose transporter that effectively regulates intracellular trafficking of sucrose. It was possible to obtain transgenic lines with dual SUT gene knockdown using the 35S promoter, but not the wood-specific TUA1 promoter. By the end of project year 2, a decision was made to work with the 35S plants while archiving the TUA1 plants. The PhD candidate charged with producing the transgenic lines abandoned the project during its second year, substantially contributing to the decision to operate with just the 35S lines. That student’s interests ranged more toward evolutionary topics, and a report on SUT gene evolution was published (Peng et al 2014).

Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.

Science.gov (United States)

Liu, Fei; Li, Pengcheng; Liu, Ying; Li, Weirong; Wong, Fulton; Du, Rong; Wang, Lei; Li, Chang; Jiang, Fagang; Tang, Zhaohui; Liu, Mugen

2013-01-01

To identify the disease-causing mutation(s) in a Chinese family with autosomal recessive Usher syndrome type 1 (USH1). An ophthalmic examination and an audiometric test were conducted to ascertain the phenotype of two affected siblings. The microsatellite marker D11S937, which is close to the candidate gene MYO7A (USH1B locus), was selected for genotyping. From the DNA of the proband, all coding exons and exon-intron boundaries of MYO7A were sequenced to identify the disease-causing mutation(s). Restriction fragment length polymorphism (RFLP) analysis was performed to exclude the alternative conclusion that the mutations are non-pathogenic rare polymorphisms. Based on severe hearing impairment, unintelligible speech, and retinitis pigmentosa, a clinical diagnosis of Usher syndrome type 1 was made. The genotyping results did not exclude the USH1B locus, which suggested that the MYO7A gene was likely the gene associated with the disease-causing mutation(s) in the family. With direct DNA sequencing of MYO7A, two novel compound heterozygous mutations (c.3742G>A and c.6051+1G>A) of MYO7A were identified in the proband. DNA sequence analysis and RFLP analysis of other family members showed that the mutations cosegregated with the disease. Unaffected members, including the parents, uncle, and sister of the proband, carry only one of the two mutations. The mutations were not present in the controls (100 normal Chinese subjects=200 chromosomes) according to the RFLP analysis. In this study, we identified two novel mutations, c.3742G>A (p.E1248K) and c.6051+1G>A (donor splice site mutation in intron 44), of MYO7A in a Chinese non-consanguineous family with USH1. The mutations cosegregated with the disease and most likely cause the phenotype in the two affected siblings who carry these mutations compound heterozygously. Our finding expands the mutational spectrum of MYO7A.

Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS

DEFF Research Database (Denmark)

Tümer, Zeynep; Bertelsen, Birgitte; Gredal, Ole

2012-01-01

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder. About 10% of ALS cases are familial (FALS) and the genetic defect is known only in approximately 20%-30% of these cases. The most common genetic cause of ALS is SOD1 (superoxide dismutase 1) mutation. Very recently......, mutations of the optineurin gene (OPTN), which is involved in open-angle glaucoma, were identified in 3 Japanese patients/families with ALS, and subsequently in a few FALS patients of European descent. We found a heterozygous nonsense mutation (c.493C>T, p.Gln165X, exon 6) in the OPTN gene in a Danish...... patient with ALS, and the mutation segregated from his affected father. The p.Gln165X mutation could not be detected in 1070 healthy Danish controls, in 1000 Danish individuals with metabolic phenotypes or in 64 sporadic ALS (SALS) cases. The p.Gln165X mutation described in this study is the first...

Strong population bottleneck and repeated demographic expansions of Populus adenopoda (Salicaceae) in subtropical China.

Science.gov (United States)

Fan, Liqiang; Zheng, Honglei; Milne, Richard I; Zhang, Lei; Mao, Kangshan

2018-03-14

Glacial refugia and inter-/postglacial recolonization routes during the Quaternary of tree species in Europe and North America are well understood, but far less is known about those of tree species in subtropical eastern Asia. Thus, we have examined the phylogeographic history of Populus adenopoda (Salicaceae), one of the few poplars that naturally occur in this subtropical area. Genetic variations across the range of the species in subtropical China were surveyed using ten nuclear microsatellite loci and four chloroplast fragments (matK, trnG-psbK, psbK-psbI and ndhC-trnV). Coalescent-based analyses were used to test demographic and migration hypotheses. In addition, species distribution models (SDMs) were constructed to infer past, present and future potential distributions of the species. Thirteen chloroplast haplotypes were detected, and haplotype-rich populations were found in central and southern parts of the species' range. STRUCTURE analyses of nuclear microsatellite loci suggest obvious lineage admixture, especially in peripheral and northern populations. DIYABC analysis suggests that the species might have experienced two independent rounds of demographic expansions and a strong bottleneck in the late Quaternary. SDMs indicate that the species' range contracted during the Last Glacial Maximum (LGM), and contracted northward but expanded eastward during the Last Interglacial (LIG). Chloroplast data and SDMs suggest that P. adenopoda might have survived in multiple glacial refugia in central and southern parts of its range during the LGM. Populations of the Yunnan-Guizhou Plateau in the southern part have high chloroplast DNA diversity, but may have contributed little to the postglacial recolonization of northern and eastern parts. The three major demographic events inferred by DIYABC coincide with the initiation of the LIG, start of the LGM and end of the LGM, respectively. The species may have experienced multiple rounds of range contraction during

Expression and molecular evolution of two DREB1 genes in black poplar (Populus nigra.

Directory of Open Access Journals (Sweden)

Yanguang Chu

Full Text Available Environmental stresses such as low temperature, drought, and high salinity significantly affect plant growth and yield. As selective forces, these adverse factors play essential roles in shaping phenotypic variation in plant populations. Black poplar (Populus nigra is an economically and ecologically important forest tree species with widely distributed populations and is thus suitable for experiments detecting evolutionary footprints left by stress. Here, we performed expression and evolutionary analysis of two duplicated DREB A1-subgroup (DREB1 genes, PnDREB68 and PnDREB69, encoding transcription factors that are involved in stress responses. The two genes showed partially overlapping but distinct expression patterns in response to stresses. These genes were strongly and rapidly induced by cold stress in leaves, stems, and roots. In leaf tissue, dehydration stress induced the expression of PnDREB68 but not PnDREB69. PnDREB69 displayed more rapid responses and longer expression durations than PnDREB68 under salt and ABA stress, respectively. Based on single nucleotide polymorphism (SNP analysis, we found significant population genetic differentiation, with a greater FST value (0.09189 for PnDREB69 than for PnDREB68 (0.07743. Nucleotide diversity analysis revealed a two-fold higher πT for PnDREB68 than for PnDREB69 (0.00563 vs. 0.00243, reflecting strong purifying selection acting on the former. The results suggest that positive selection acted on PnDREB69, as evidenced by neutral testing using Tajima's D statistic. The distinct selective forces to which each of the genes was subjected may be associated with expression divergence. Linkage disequilibrium (LD was low for the sequenced region, with a higher level for PnDREB68 than for PnDREB69. Additionally, analysis of the relationship among carbon isotope ratios, SNP classes and gene expression, together with motif and domain analysis, suggested that 14 polymorphisms within the two genes may be

Generation of a heterozygous knockout human embryonic stem cell line for the OCIAD1 locus using CRISPR/CAS9 mediated targeting: BJNhem20-OCIAD1-CRISPR-20

Directory of Open Access Journals (Sweden)

Deeti K. Shetty

2016-03-01

Full Text Available Ovarian carcinoma immuno-reactive antigen domain containing 1(OCIAD1 single copy was knocked out generating an OCIAD1 heterozygous knockout human embryonic stem line named BJNhem20-OCIAD1-CRISPR-20. The line was generated using CRISPR-Cas9D10A double nickase knockout strategy (Mali et al., 2013.

Sex-specific responses to winter flooding, spring waterlogging and post-flooding recovery in Populus deltoides.

Science.gov (United States)

Miao, Ling-Feng; Yang, Fan; Han, Chun-Yu; Pu, Yu-Jin; Ding, Yang; Zhang, Li-Jia

2017-05-31

Winter flooding events are common in some rivers and streams due to dam constructions, and flooding and waterlogging inhibit the growth of trees in riparian zones. This study investigated sex-specific morphological, physiological and ultrastructural responses to various durations of winter flooding and spring waterlogging stresses, and post-flooding recovery characteristics in Populus deltoides. There were no significant differences in the morphological, ultrastructural and the majority of physiological traits in trees subjected to medium and severe winter flooding stresses, suggesting that males and females of P. deltoides were winter flooding tolerant, and insensitive to winter flooding duration. Males were more tolerant to winter flooding stress in terms of photosynthesis and chlorophyll fluorescence than females. Females displayed greater oxidative damage due to flooding stress than males. Males developed more efficient antioxidant enzymatic systems to control reactive oxygen species. Both sexes had similarly strong post-flooding recovery capabilities in terms of plant growth, and physiological and ultrastructural parameters. However, Males had better recovery capabilities in terms of pigment content. These results increase the understanding of poplars's adaptation to winter flooding stress. They also elucidate sex-specific differences in response to flooding stress during the dormant season, and during post-flooding recovery periods.

Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing

Directory of Open Access Journals (Sweden)

Qi Zhou

2015-01-01

Full Text Available Background. Retinitis pigmentosa (RP is an inherited retinal degenerative disease, which is clinically and genetically heterogeneous, and the inheritance pattern is complex. In this study, we have intended to study the possible association of certain genes with X-linked RP (XLRP in a Chinese family. Methods. A Chinese family with RP was recruited, and a total of seven individuals were enrolled in this genetic study. Genomic DNA was isolated from peripheral leukocytes, and used for the next generation sequencing (NGS. Results. The affected individual presented the clinical signs of XLRP. A heterozygous missense mutation (c.1555C>T, p.R519W was identified by NGS in exon 13 of the CACNA1F gene on X chromosome, and was confirmed by Sanger sequencing. It showed perfect cosegregation with the disease in the family. The mutation at this position in the CACNA1F gene of RP was found novel by database searching. Conclusion. By using NGS, we have found a novel heterozygous missense mutation (c.1555C>T, p.R519W in CACNA1F gene, which is probably associated with XLRP. The findings might provide new insights into the cause and diagnosis of RP, and have implications for genetic counseling and clinical management in this family.

Modelling the growth of Populus species using Ecosystem Demography (ED) model

Science.gov (United States)

Wang, D.; Lebauer, D. S.; Feng, X.; Dietze, M. C.

2010-12-01

Hybrid poplar plantations are an important source being evaluated for biomass production. Effective management of such plantations requires adequate growth and yield models. The Ecosystem Demography model (ED) makes predictions about the large scales of interest in above- and belowground ecosystem structure and the fluxes of carbon and water from a description of the fine-scale physiological processes. In this study, we used a workflow management tool, the Predictive Ecophysiological Carbon flux Analyzer (PECAn), to integrate literature data, field measurement and the ED model to provide predictions of ecosystem functioning. Parameters for the ED ensemble runs were sampled from the posterior distribution of ecophysiological traits of Populus species compiled from the literature using a Bayesian meta-analysis approach. Sensitivity analysis was performed to identify the parameters which contribute the most to the uncertainties of the ED model output. Model emulation techniques were used to update parameter posterior distributions using field-observed data in northern Wisconsin hybrid poplar plantations. Model results were evaluated with 5-year field-observed data in a hybrid poplar plantation at New Franklin, MO. ED was then used to predict the spatial variability of poplar yield in the coterminous United States (United States minus Alaska and Hawaii). Sensitivity analysis showed that root respiration, dark respiration, growth respiration, stomatal slope and specific leaf area contribute the most to the uncertainty, which suggests that our field measurements and data collection should focus on these parameters. The ED model successfully captured the inter-annual and spatial variability of the yield of poplar. Analyses in progress with the ED model focus on evaluating the ecosystem services of short-rotation woody plantations, such as impacts on soil carbon storage, water use, and nutrient retention.

Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65).

Science.gov (United States)

Frederiksen, Anja L; Larsen, Martin J; Brusgaard, Klaus; Novack, Deborah V; Knudsen, Peter Juel Thiis; Schrøder, Henrik Daa; Qiu, Weimin; Eckhardt, Christina; McAlister, William H; Kassem, Moustapha; Mumm, Steven; Frost, Morten; Whyte, Michael P

2016-01-01

Heritable disorders that feature high bone mass (HBM) are rare. The etiology is typically a mutation(s) within a gene that regulates the differentiation and function of osteoblasts (OBs) or osteoclasts (OCs). Nevertheless, the molecular basis is unknown for approximately one-fifth of such entities. NF-κB signaling is a key regulator of bone remodeling and acts by enhancing OC survival while impairing OB maturation and function. The NF-κB transcription complex comprises five subunits. In mice, deletion of the p50 and p52 subunits together causes osteopetrosis (OPT). In humans, however, mutations within the genes that encode the NF-κB complex, including the Rela/p65 subunit, have not been reported. We describe a neonate who died suddenly and unexpectedly and was found at postmortem to have HBM documented radiographically and by skeletal histopathology. Serum was not available for study. Radiographic changes resembled malignant OPT, but histopathological investigation showed morphologically normal OCs and evidence of intact bone resorption excluding OPT. Furthermore, mutation analysis was negative for eight genes associated with OPT or HBM. Instead, accelerated bone formation appeared to account for the HBM. Subsequently, trio-based whole exome sequencing revealed a heterozygous de novo missense mutation (c.1534_1535delinsAG, p.Asp512Ser) in exon 11 of RELA encoding Rela/p65. The mutation was then verified using bidirectional Sanger sequencing. Lipopolysaccharide stimulation of patient fibroblasts elicited impaired NF-κB responses compared with healthy control fibroblasts. Five unrelated patients with unexplained HBM did not show a RELA defect. Ours is apparently the first report of a mutation within the NF-κB complex in humans. The missense change is associated with neonatal osteosclerosis from in utero increased OB function rather than failed OC action. These findings demonstrate the importance of the Rela/p65 subunit within the NF-κB pathway for human

Populus balsamifera Extract and Its Active Component Salicortin Reduce Obesity and Attenuate Insulin Resistance in a Diet-Induced Obese Mouse Model

Directory of Open Access Journals (Sweden)

Despina Harbilas

2013-01-01

Full Text Available Populus balsamifera L. (BP is a medicinal plant stemming from the traditional pharmacopoeia of the Cree of Eeyou Istchee (CEI—Northern Quebec. In vitro screening studies revealed that it strongly inhibited adipogenesis in 3T3-L1 adipocytes, suggesting potential antiobesity activity. Salicortin was identified, through bioassay-guided fractionation, as the active component responsible for BP’s activity. The present study aimed to assess the potential of BP and salicortin at reducing obesity and features of the metabolic syndrome, in diet-induced obese C57Bl/6 mice. Mice were subjected to high fat diet (HFD for sixteen weeks, with BP (125 or 250 mg/kg or salicortin (12.5 mg/kg introduced in the HFD for the last eight of the sixteen weeks. BP and salicortin effectively reduced whole body and retroperitoneal fat pad weights, as well as hepatic triglyceride accumulation. Glycemia, insulinemia, leptin, and adiponectin levels were also improved. This was accompanied by a small yet significant reduction in food intake in animals treated with BP. BP and salicortin (slightly also modulated key components in signaling pathways involved with glucose regulation and lipid oxidation in the liver, muscle, and adipose tissue. These results confirm the validity of the CEI pharmacopoeia as alternative and complementary antiobesity and antidiabetic therapies.

Molecular Cloning and Functional Analysis of UV RESISTANCE LOCUS 8 (PeUVR8 from Populus euphratica.

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Ke Mao

Full Text Available Ultraviolet-B (UV-B; 280-315 nm light, which is an integral part of the solar radiation reaching the surface of the Earth, induces a broad range of physiological responses in plants. The UV RESISTANCE LOCUS 8 (UVR8 protein is the first and only light photoreceptor characterized to date that is specific for UV-B light and it regulates various aspects of plant growth and development in response to UV-B light. Despite its involvement in the control of important plant traits, most studies on UV-B photoreceptors have focused on Arabidopsis and no data on UVR8 function are available for forest trees. In this study, we isolated a homologue of the UV receptor UVR8 of Arabidopsis, PeUVR8, from Populus euphratica (Euphrates poplar and analyzed its structure and function in detail. The deduced PeUVR8 amino acid sequence contained nine well-conserved regulator of chromosome condensation 1 (RCC1 repeats and the region 27 amino acids from the C terminus (C27 that interact with COP1 (CONSTITUTIVELY PHOTOMORPHOGENIC1. Secondary and tertiary structure analysis showed that PeUVR8 shares high similarity with the AtUVR8 protein from Arabidopsis thaliana. Using heterologous expression in Arabidopsis, we showed that PeUVR8 overexpression rescued the uvr8 mutant phenotype. In addition, PeUVR8 overexpression in wild-type background seedlings grown under UV-B light inhibited hypocotyl elongation and enhanced anthocyanin accumulation. Furthermore, we examined the interaction between PeUVR8 and AtCOP1 using a bimolecular fluorescence complementation (BiFC assay. Our data provide evidence that PeUVR8 plays important roles in the control of photomorphogenesis in planta.

Observations on the Early Establishment of Foliar Endophytic Fungi in Leaf Discs and Living Leaves of a Model Woody Angiosperm, Populus trichocarpa (Salicaceae

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Yu-Ling Huang

2018-05-01

Full Text Available Fungal endophytes are diverse and widespread symbionts that occur in the living tissues of all lineages of plants without causing evidence of disease. Culture-based and culture-free studies indicate that they often are abundant in the leaves of woody angiosperms, but only a few studies have visualized endophytic fungi in leaf tissues, and the process through which most endophytes colonize leaves has not been studied thoroughly. We inoculated leaf discs and the living leaves of a model woody angiosperm, Populus trichocarpa, which has endophytes that represent three distantly-related genera (Cladosporium, Penicillium, and Trichoderma. We used scanning electron microscopy and light microscopy to evaluate the timeline and processes by which they colonize leaf tissue. Under laboratory conditions with high humidity, conidia germinated on leaf discs to yield hyphae that grew epiphytically and incidentally entered stomata, but did not grow in a directed fashion toward stomatal openings. No cuticular penetration was observed. The endophytes readily colonized the interiors of leaf discs that were detached from living leaves, and could be visualized within discs with light microscopy. Although they were difficult to visualize within the interior of living leaves following in vivo inoculations, standard methods for isolating foliar endophytes confirmed their presence.

Identification of Hb Constant Spring (HBA2: c.427T > C) by an Automated High Performance Liquid Chromatography Method.

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Wisedpanichkij, Raewadee; Jindadamrongwech, Sumalee; Butthep, Punnee

2015-01-01

Laboratory investigation of hemoglobinopathies includes complete blood count (CBC), hemoglobin (Hb) typing by high performance liquid chromatography (HPLC) and DNA analysis. DNA analysis is the most reliable method but requires a manually laborious procedure and is time consuming. A more practical method of detecting abnormal Hbs is the HPLC technique, because it is more rapid and easier to interpret. Hb Constant Spring (Hb CS; HBA2: c.427T > C) is an abnormal variant that is labile and difficult to detect using conventional methods. To evaluate the efficiency of Hb CS determination by HPLC, blood samples from 578 subjects were analyzed using an automated cell analyzer for hematological parameters, automated HPLC for Hb identification, and polymerase chain reaction (PCR) for α-thalassemia (α-thal) and Hb CS confirmation. These included 169 normal, 119 heterozygous α-thal-2, 30 homozygous α-thal-2, 177 heterozygous α-thal-1, 59 heterozygous Hb CS, seven homozygous Hb CS and 17 compound heterozygous α-thal-2 and Hb CS subjects. The results showed that sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of Hb CS by HPLC were 93.78, 99.80, 98.73 and 99.00%, respectively. The mean of misdiagnosis value of the three groups of Hb CS subjects (total 83) was 6.02% (n = 5), with percentages for heterozygous Hb CS, homozygous Hb CS, and compound heterozygous α-thal-2 and Hb CS being 6.8, 0.0 and 5.9%, respectively. The HPLC method yielded good results, although it may also lead to misdiagnosis of Hb CS due to the relatively small amount and lability.

Transcriptome analysis of the Populus trichocarpa-Rhizophagus irregularis Mycorrhizal Symbiosis: Regulation of Plant and Fungal Transportomes under Nitrogen Starvation.

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Calabrese, Silvia; Kohler, Annegret; Niehl, Annette; Veneault-Fourrey, Claire; Boller, Thomas; Courty, Pierre-Emmanuel

2017-06-01

Nutrient transfer is a key feature of the arbuscular mycorrhizal (AM) symbiosis. Valuable mineral nutrients are transferred from the AM fungus to the plant, increasing its fitness and productivity, and, in exchange, the AM fungus receives carbohydrates as an energy source from the plant. Here, we analyzed the transcriptome of the Populus trichocarpa-Rhizophagus irregularis symbiosis using RNA-sequencing of non-mycorrhizal or mycorrhizal fine roots, with a focus on the effect of nitrogen (N) starvation. In R. irregularis, we identified 1,015 differentially expressed genes, whereby N starvation led to a general induction of gene expression. Genes of the functional classes of cell growth, membrane biogenesis and cell structural components were highly abundant. Interestingly, N starvation also led to a general induction of fungal transporters, indicating increased nutrient demand upon N starvation. In non-mycorrhizal P. trichocarpa roots, 1,341 genes were differentially expressed under N starvation. Among the 953 down-regulated genes in N starvation, most were involved in metabolic processes including amino acids, carbohydrate and inorganic ion transport, while the 342 up-regulated genes included many defense-related genes. Mycorrhization led to the up-regulation of 549 genes mainly involved in secondary metabolite biosynthesis and transport; only 24 genes were down-regulated. Mycorrhization specifically induced expression of three ammonium transporters and one phosphate transporter, independently of the N conditions, corroborating the hypothesis that these transporters are important for symbiotic nutrient exchange. In conclusion, our data establish a framework of gene expression in the two symbiotic partners under high-N and low-N conditions. © The Author 2017. Published by Oxford University Press on behalf of Japanese Society of Plant Physiologists. All rights reserved. For permissions, please email: journals.permissions@oup.com.

[Haplotype Analysis of Coagulation Factor VII Gene in a Patient with Congenital Coagulation Factor VII Deficiency with Heterozygous p.Arg337Cys Mutation and o.Aro413Gin Polymorphism..

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Suzuki, Keijiro; Yoshioka, Tomoko; Obara, Takehiro; Suwabe, Akira

2016-05-01

Congenital coagulation factor VII (FVII) deficiency is a rare hemorrhagic disease with an autosomal reces- sive inheritance pattern. We analyzed coagulation factor VII gene (F7) of a patient with FVII deficiency and used expression studies to investigate the effect of a missense mutation on FVII secretion. The proband, a 69-year-old Japanese woman, had a history of postpartum bleeding and excessive bleeding after dental extrac- tion. She was found to have mildly increased PT-INR (1.17) before an ophthalmic operation. FVII activity and antigen were reduced (29.0% and 32.8%). Suspecting that the proband was FVII deficient, we analyzed F7 of the patient. Sequence analysis revealed that the patient was heterozygous for a point mutation (p.Arg337Cys) in the catalytic domain and polymorphisms: the decanucleotide insertion at the promoter re- gion, dimorphism (c.525C >T) in exon 5, and p.Arg413Gln in exon 8. Haplotype analysis clarified that p.Arg337Cys was located on the p.Arg413 allele (Ml allele). The other allele had the p.Arg413Gln polymor- phism(M2 allele) which is known to produce less FVII. Expression studies revealed that p.Arg337Cys causes impairment of FVII secretion. Insufficient secretion of FVII arising from both the p.Arg337Cys/M1 allele and the p.Arg337/M2 allele might lower the FVII level of this patient(<50%). The FVII level in a heterozygous FVII deficient patient might be influenced by F7 polymorphisms on the normal allele. There- fore, genetic analyses are important for the diagnosis of heterozygous FVII deficiency.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

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Olson, Heather E; Jean-Marçais, Nolwenn; Yang, Edward; Heron, Delphine; Tatton-Brown, Katrina; van der Zwaag, Paul A; Bijlsma, Emilia K; Krock, Bryan L; Backer, E; Kamsteeg, Erik-Jan; Sinnema, Margje; Reijnders, Margot R F; Bearden, David; Begtrup, Amber; Telegrafi, Aida; Lunsing, Roelineke J; Burglen, Lydie; Lesca, Gaetan; Cho, Megan T; Smith, Lacey A; Sheidley, Beth R; Moufawad El Achkar, Christelle; Pearl, Phillip L; Poduri, Annapurna; Skraban, Cara M; Tarpinian, Jennifer; Nesbitt, Addie I; Fransen van de Putte, Dietje E; Ruivenkamp, Claudia A L; Rump, Patrick; Chatron, Nicolas; Sabatier, Isabelle; De Bellescize, Julitta; Guibaud, Laurent; Sweetser, David A; Waxler, Jessica L; Wierenga, Klaas J; Donadieu, Jean; Narayanan, Vinodh; Ramsey, Keri M; Nava, Caroline; Rivière, Jean-Baptiste; Vitobello, Antonio; Tran Mau-Them, Frédéric; Philippe, Christophe; Bruel, Ange-Line; Duffourd, Yannis; Thomas, Laurel; Lelieveld, Stefan H; Schuurs-Hoeijmakers, Janneke; Brunner, Han G; Keren, Boris; Thevenon, Julien; Faivre, Laurence; Thomas, Gary; Thauvin-Robinet, Christel

2018-05-03

Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for deciphering this complex group and for accurately caring for affected individuals (clinical diagnosis, genetic counseling, impacting medical, precision therapy, clinical trials, etc.). Whole-exome sequencing and intensive data sharing identified a recurrent de novo PACS2 heterozygous missense variant in 14 unrelated individuals. Their phenotype was characterized by epilepsy, global developmental delay with or without autism, common cerebellar dysgenesis, and facial dysmorphism. Mixed focal and generalized epilepsy occurred in the neonatal period, controlled with difficulty in the first year, but many improved in early childhood. PACS2 is an important PACS1 paralog and encodes a multifunctional sorting protein involved in nuclear gene expression and pathway traffic regulation. Both proteins harbor cargo(furin)-binding regions (FBRs) that bind cargo proteins, sorting adaptors, and cellular kinase. Compared to the defined PACS1 recurrent variant series, individuals with PACS2 variant have more consistently neonatal/early-infantile-onset epilepsy that can be challenging to control. Cerebellar abnormalities may be similar but PACS2 individuals exhibit a pattern of clear dysgenesis ranging from mild to severe. Functional studies demonstrated that the PACS2 recurrent variant reduces the ability of the predicted autoregulatory domain to modulate the interaction between the PACS2 FBR and client proteins, which may disturb cellular function. These findings support the causality of this recurrent de novo PACS2 heterozygous missense in DEEs with facial dysmorphim and cerebellar dysgenesis. Copyright © 2018 American Society of Human Genetics. All rights reserved.

Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.

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Jacoba J Louw

2018-01-01

Full Text Available Congenital or neonatal cardiomyopathies are commonly associated with a poor prognosis and have multiple etiologies. In two siblings, a male and female, we identified an undescribed type of lethal congenital restrictive cardiomyopathy affecting the right ventricle. We hypothesized a novel autosomal recessive condition. To identify the cause, we performed genetic, in vitro and in vivo studies. Genome-wide SNP typing and parametric linkage analysis was done in a recessive model to identify candidate regions. Exome sequencing analysis was done in unaffected and affected siblings. In the linkage regions, we selected candidate genes that harbor two rare variants with predicted functional effects in the patients and for which the unaffected sibling is either heterozygous or homozygous reference. We identified two compound heterozygous variants in KIF20A; a maternal missense variant (c.544C>T: p.R182W and a paternal frameshift mutation (c.1905delT: p.S635Tfs*15. Functional studies confirmed that the R182W mutation creates an ATPase defective form of KIF20A which is not able to support efficient transport of Aurora B as part of the chromosomal passenger complex. Due to this, Aurora B remains trapped on chromatin in dividing cells and fails to translocate to the spindle midzone during cytokinesis. Translational blocking of KIF20A in a zebrafish model resulted in a cardiomyopathy phenotype. We identified a novel autosomal recessive congenital restrictive cardiomyopathy, caused by a near complete loss-of-function of KIF20A. This finding further illustrates the relationship of cytokinesis and congenital cardiomyopathy.

Chronic Toxoplasma gondii in Nurr1-null heterozygous mice exacerbates elevated open field activity.

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Eells, Jeffrey B; Varela-Stokes, Andrea; Guo-Ross, Shirley X; Kummari, Evangel; Smith, Holly M; Cox, Erin; Lindsay, David S

2015-01-01

Latent infection with Toxoplasma gondii is common in humans (approximately 30% of the global population) and is a significant risk factor for schizophrenia. Since prevalence of T. gondii infection is far greater than prevalence of schizophrenia (0.5-1%), genetic risk factors are likely also necessary to contribute to schizophrenia. To test this concept in an animal model, Nurr1-null heterozygous (+/-) mice and wild-type (+/+) mice were evaluate using an emergence test, activity in an open field and with a novel object, response to bobcat urine and prepulse inhibition of the acoustic startle response (PPI) prior to and 6 weeks after infection with T. gondii. In the emergence test, T. gondii infection significantly decreased the amount of time spent in the cylinder. Toxoplasma gondii infection significantly elevated open field activity in both +/+ and +/- mice but this increase was significantly exacerbated in +/- mice. T. gondii infection reduced PPI in male +/- mice but this was not statistically significant. Aversion to bobcat urine was abolished by T. gondii infection in +/+ mice. In female +/- mice, aversion to bobcat urine remained after T. gondii infection while the male +/- mice showed no aversion to bobcat urine. Antibody titers of infected mice were a critical variable associated with changes in open field activity, such that an inverted U shaped relationship existed between antibody titers and the percent change in open field activity with a significant increase in activity at low and medium antibody titers but no effect at high antibody titers. These data demonstrate that the Nurr1 +/- genotype predisposes mice to T. gondii-induced alterations in behaviors that involve dopamine neurotransmission and are associated with symptoms of schizophrenia. We propose that these alterations in murine behavior were due to further exacerbation of the altered dopamine neurotransmission in Nurr1 +/- mice.

Chronic Toxoplasma gondii in Nurr1-null heterozygous mice exacerbates elevated open field activity.

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Jeffrey B Eells

Full Text Available Latent infection with Toxoplasma gondii is common in humans (approximately 30% of the global population and is a significant risk factor for schizophrenia. Since prevalence of T. gondii infection is far greater than prevalence of schizophrenia (0.5-1%, genetic risk factors are likely also necessary to contribute to schizophrenia. To test this concept in an animal model, Nurr1-null heterozygous (+/- mice and wild-type (+/+ mice were evaluate using an emergence test, activity in an open field and with a novel object, response to bobcat urine and prepulse inhibition of the acoustic startle response (PPI prior to and 6 weeks after infection with T. gondii. In the emergence test, T. gondii infection significantly decreased the amount of time spent in the cylinder. Toxoplasma gondii infection significantly elevated open field activity in both +/+ and +/- mice but this increase was significantly exacerbated in +/- mice. T. gondii infection reduced PPI in male +/- mice but this was not statistically significant. Aversion to bobcat urine was abolished by T. gondii infection in +/+ mice. In female +/- mice, aversion to bobcat urine remained after T. gondii infection while the male +/- mice showed no aversion to bobcat urine. Antibody titers of infected mice were a critical variable associated with changes in open field activity, such that an inverted U shaped relationship existed between antibody titers and the percent change in open field activity with a significant increase in activity at low and medium antibody titers but no effect at high antibody titers. These data demonstrate that the Nurr1 +/- genotype predisposes mice to T. gondii-induced alterations in behaviors that involve dopamine neurotransmission and are associated with symptoms of schizophrenia. We propose that these alterations in murine behavior were due to further exacerbation of the altered dopamine neurotransmission in Nurr1 +/- mice.

A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers

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Yonatan Perez

2017-01-01

Full Text Available Mutations in genes involved in the biosynthesis of the glycosylphosphatidylinositol (GPI anchor cause autosomal recessive glycosylation defects, with a wide phenotypic spectrum of intellectual disability, seizures, minor facial dysmorphism, hypotonia, and elevated serum alkaline phosphatase. We now describe consanguineous Bedouin kindred presenting with an autosomal recessive syndrome of intellectual disability and elevated serum alkaline phosphatase. Genome-wide linkage analysis identified 6 possible disease-associated loci. Whole-exome sequencing followed by Sanger sequencing validation identified a single variant in PGAP2 as the disease-causing mutation (C.554G>A; p.185(R>Q, segregating as expected within the kindred and not found in 150 Bedouin controls. The mutation replaces a highly conserved arginine residue with glutamine within the Frag1 (FGF receptor activating domain of PGAP2. Interestingly, this mutation is a known dbSNP variant (rs745521288, build 147 with a very low allele frequency (0.00000824 in dbSNP, no homozygotes reported, highlighting the fact that dbSNP variants should not be automatically ruled out as disease-causing mutations. We further showed that PGAP2 is ubiquitously expressed, but in line with the disease phenotype, it is highly transcribed in human brain, skeletal muscle, and liver. Interestingly, a mild phenotype of slightly elevated serum levels of alkaline phosphatase and significant learning disabilities was observed in heterozygous carriers.

Polymorphisms of the low-density lipoprotein receptor gene in Brazilian individuals with heterozygous familial hypercholesterolemia

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L.A. Salazar

2000-11-01

Full Text Available Familial hypercholesterolemia (FH is a metabolic disorder inherited as an autosomal dominant trait characterized by an increased plasma low-density lipoprotein (LDL level. The disease is caused by several different mutations in the LDL receptor gene. Although early identification of individuals carrying the defective gene could be useful in reducing the risk of atherosclerosis and myocardial infarction, the techniques available for determining the number of the functional LDL receptor molecules are difficult to carry out and expensive. Polymorphisms associated with this gene may be used for unequivocal diagnosis of FH in several populations. The aim of our study was to evaluate the genotype distribution and relative allele frequencies of three polymorphisms of the LDL receptor gene, HincII1773 (exon 12, AvaII (exon 13 and PvuII (intron 15, in 50 unrelated Brazilian individuals with a diagnosis of heterozygous FH and in 130 normolipidemic controls. Genomic DNA was extracted from blood leukocytes by a modified salting-out method. The polymorphisms were detected by PCR-RFLP. The FH subjects showed a higher frequency of A+A+ (AvaII, H+H+ (HincII1773 and P1P1 (PvuII homozygous genotypes when compared to the control group (P<0.05. In addition, FH probands presented a high frequency of A+ (0.58, H+ (0.61 and P1 (0.78 alleles when compared to normolipidemic individuals (0.45, 0.45 and 0.64, respectively. The strong association observed between these alleles and FH suggests that AvaII, HincII1773 and PvuII polymorphisms could be useful to monitor the inheritance of FH in Brazilian families.

Development of a Threshold Model to Predict Germination of Populus tomentosa Seeds after Harvest and Storage under Ambient Condition

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Wang, Wei-Qing; Cheng, Hong-Yan; Song, Song-Quan

2013-01-01

Effects of temperature, storage time and their combination on germination of aspen (Populus tomentosa) seeds were investigated. Aspen seeds were germinated at 5 to 30°C at 5°C intervals after storage for a period of time under 28°C and 75% relative humidity. The effect of temperature on aspen seed germination could not be effectively described by the thermal time (TT) model, which underestimated the germination rate at 5°C and poorly predicted the time courses of germination at 10, 20, 25 and 30°C. A modified TT model (MTT) which assumed a two-phased linear relationship between germination rate and temperature was more accurate in predicting the germination rate and percentage and had a higher likelihood of being correct than the TT model. The maximum lifetime threshold (MLT) model accurately described the effect of storage time on seed germination across all the germination temperatures. An aging thermal time (ATT) model combining both the TT and MLT models was developed to describe the effect of both temperature and storage time on seed germination. When the ATT model was applied to germination data across all the temperatures and storage times, it produced a relatively poor fit. Adjusting the ATT model to separately fit germination data at low and high temperatures in the suboptimal range increased the models accuracy for predicting seed germination. Both the MLT and ATT models indicate that germination of aspen seeds have distinct physiological responses to temperature within a suboptimal range. PMID:23658654

[Hereditary heterozygous factor VII deficiency in patients undergoing surgery : Clinical relevance].

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Woehrle, D; Martinez, M; Bolliger, D

2016-10-01

A hereditary deficiency in coagulation factor VII (FVII) may affect the international normalized ratio (INR) value. However, FVII deficiency is occasionally associated with a tendency to bleed spontaneously. We hypothesized that perioperative substitution with coagulation factor concentrates might not be indicated in most patients. In this retrospective data analysis, we included all patients with hereditary heterozygous FVII deficiency who underwent surgical procedures at the University Hospital Basel between December 2010 and November 2015. In addition, by searching the literature, we identified publications reporting patients with FVII deficiency undergoing surgical procedures without perioperative substitution. We identified 22 patients undergoing 46 surgical procedures, resulting in a prevalence of 1:1500-2000. Coagulation factor concentrates were administered during the perioperative period in 15 procedures (33 %), whereas in the other 31 procedures (66 %), FVII deficiency was not substituted. No postoperative bleeding or thromboembolic events were reported. In addition, we found no differences in pre- and postoperative hemoglobin and coagulation parameters, with the exception of an improved postoperative INR value in the substituted group. In the literature review, we identified five publications, including 125 patients with FVII deficiency, undergoing 213 surgical procedures with no perioperative substitution. Preoperative substitution using coagulation factor concentrates does not seem to be mandatory in patients with an FVII level ≥15 %. For decision-making on preoperative substitution, patient history of an increased tendency to bleed may be more important than the FVII level or increased INR value.

Effects of Simulated Nitrogen Deposition on Soil Respiration in a Populus euphratica Community in the Ebinur Lake Area, a Desert Ecosystem of Northwestern China

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He, Xuemin; Lv, Guanghui; Qin, Lu; Chang, Shunli; Yang, Min; Yang, Jianjun; Yang, Xiaodong

2015-01-01

One of the primary limiting factors for biological activities in desert ecosystems is nitrogen (N). This study therefore examined the effects of N and investigated the responses of an arid ecosystem to global change. We selected the typical desert plant Populus euphratica in a desert ecosystem in the Ebinur Lake area to evaluate the effects of N deposition on desert soil respiration. Three levels of N deposition (0, 37.5 and 112.5 kg·N·ha-1·yr-1) were randomly artificially provided to simulate natural N deposition. Changes in the soil respiration rates were measured from July to September in both 2010 and 2013, after N deposition in April 2010. The different levels of N deposition affected the total soil N, soil organic matter, soil C/N ratio, microorganism number, and microbial community structure and function. However, variable effects were observed over time in relation to changes in the magnitude of N deposition. Simulated high N deposition significantly reduced the soil respiration rate by approximately 23.6±2.5% (Psoil respiration rate by approximately 66.7±2.7% (Psoil moisture, whereas N deposition significantly increased the soil temperature in the 0–5 cm layer (Psoil respiration rate by altering soil properties. PMID:26379186

Cognitive assessment of mice strains heterozygous for cell-adhesion genes reveals strain-specific alterations in timing.

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Gallistel, C R; Tucci, Valter; Nolan, Patrick M; Schachner, Melitta; Jakovcevski, Igor; Kheifets, Aaron; Barboza, Luendro

2014-03-05

We used a fully automated system for the behavioural measurement of physiologically meaningful properties of basic mechanisms of cognition to test two strains of heterozygous mutant mice, Bfc (batface) and L1, and their wild-type littermate controls. Both of the target genes are involved in the establishment and maintenance of synapses. We find that the Bfc heterozygotes show reduced precision in their representation of interval duration, whereas the L1 heterozygotes show increased precision. These effects are functionally specific, because many other measures made on the same mice are unaffected, namely: the accuracy of matching temporal investment ratios to income ratios in a matching protocol, the rate of instrumental and classical conditioning, the latency to initiate a cued instrumental response, the trials on task and the impulsivity in a switch paradigm, the accuracy with which mice adjust timed switches to changes in the temporal constraints, the days to acquisition, and mean onset time and onset variability in the circadian anticipation of food availability.

Generalized pustular psoriasis in infant with heterozygous mutation in the IL36RN gene successfully treated with infliximab

DEFF Research Database (Denmark)

Glerup, Mia; Veirum, Jens Erik; Iversen, L

2014-01-01

started on intravenous antibiotics and topical corticosteroids. During the following week the dermal changes presented with scaly sharply demarcated psoriasiform plaques. Infection was cleared and treatment with topical betamethasone gave a partial improvement. Cardiac surgery was performed at the age...... during the cardiac procedures, but the extracorporeal membrane oxygenation (ECMO) system had been primed with methyl-prednisolone and a rebound effect of steroid was suspected. Methotrexate treatment was initiated and topical corticosteroids and parenteral antibiotics were added. On suspection for DIRA......L IL36Ra mutation along with heterozygous Q705K NLRP3 mutation, phenotypically expressed as DITRA with severe generalized pustular psoriasis. Reduction of the IL36Ra function will lead to excessive activity of cytokines belonging to the IL-1 family, furthermore the gain-of-function mutation in NLRP3...

Comparison of Pyrolysis Mass Spectrometry and Near Infrared Spectroscopy for Genetic Analysis of Lignocellulose Chemical Composition in Populus

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Jianxing Zhang

2014-03-01

Full Text Available Genetic analysis of wood chemical composition is often limited by the cost and throughput of direct analytical methods. The speed and low cost of Fourier transform near infrared (FT-NIR overcomes many of these limitations, but it is an indirect method relying on calibration models that are typically developed and validated with small sample sets. In this study, we used >1500 young greenhouse grown trees from a clonally propagated single Populus family, grown at low and high nitrogen, and compared FT-NIR calibration sample sizes of 150, 250, 500 and 750 on calibration and prediction model statistics, and heritability estimates developed with pyrolysis molecular beam mass spectrometry (pyMBMS wood chemical composition. As calibration sample size increased from 150 to 750, predictive model statistics improved slightly. Overall, stronger calibration and prediction statistics were obtained with lignin, S-lignin, S/G ratio, and m/z 144 (an ion from cellulose, than with C5 and C6 carbohydrates, and m/z 114 (an ion from xylan. Although small differences in model statistics were observed between the 250 and 500 sample calibration sets, when predicted values were used for calculating genetic control, the 500 sample set gave substantially more similar results to those obtained with the pyMBMS data. With the 500 sample calibration models, genetic correlations obtained with FT-NIR and pyMBMS methods were similar. Quantitative trait loci (QTL analysis with pyMBMS and FT-NIR predictions identified only three common loci for lignin traits. FT-NIR identified four QTLs that were not found with pyMBMS data, and these QTLs were for the less well predicted carbohydrate traits.

Aberrant methylation of Polo-like kinase CpG islands in Plk4 heterozygous mice

International Nuclear Information System (INIS)

Ward, Alejandra; Morettin, Alan; Shum, David; Hudson, John W

2011-01-01

Hepatocellular carcinoma (HCC), one of the most common cancers world-wide occurs twice as often in men compared to women. Predisposing conditions such as alcoholism, chronic viral hepatitis, aflatoxin B1 ingestion, and cirrhosis all contribute to the development of HCC. We used a combination of methylation specific PCR and bisulfite sequencing, qReal-Time PCR (qPCR), and Western blot analysis to examine epigenetic changes for the Polo-like kinases (Plks) during the development of hepatocellular carcinoma (HCC) in Plk4 heterozygous mice and murine embryonic fibroblasts (MEFs). Here we report that the promoter methylation of Plk4 CpG islands increases with age, was more prevalent in males and that Plk4 epigenetic modification and subsequent downregulation of expression was associated with the development of HCC in Plk4 mutant mice. Interestingly, the opposite occurs with another Plk family member, Plk1 which was typically hypermethylated in normal liver tissue but became hypomethylated and upregulated in liver tumours. Furthermore, upon alcohol exposure murine embryonic fibroblasts exhibited increased Plk4 hypermethylation and downregulation along with increased centrosome numbers and multinucleation. These results suggest that aberrant Plk methylation is correlated with the development of HCC in mice

Pectin methyl esterase inhibits intrusive and symplastic cell growth in developing wood cells of Populus.

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Siedlecka, Anna; Wiklund, Susanne; Péronne, Marie-Amélie; Micheli, Fabienne; Lesniewska, Joanna; Sethson, Ingmar; Edlund, Ulf; Richard, Luc; Sundberg, Björn; Mellerowicz, Ewa J

2008-02-01

Wood cells, unlike most other cells in plants, grow by a unique combination of intrusive and symplastic growth. Fibers grow in diameter by diffuse symplastic growth, but they elongate solely by intrusive apical growth penetrating the pectin-rich middle lamella that cements neighboring cells together. In contrast, vessel elements grow in diameter by a combination of intrusive and symplastic growth. We demonstrate that an abundant pectin methyl esterase (PME; EC 3.1.1.11) from wood-forming tissues of hybrid aspen (Populus tremula x tremuloides) acts as a negative regulator of both symplastic and intrusive growth of developing wood cells. When PttPME1 expression was up- and down-regulated in transgenic aspen trees, the PME activity in wood-forming tissues was correspondingly altered. PME removes methyl ester groups from homogalacturonan (HG) and transgenic trees had modified HG methylesterification patterns, as demonstrated by two-dimensional nuclear magnetic resonance and immunostaining using PAM1 and LM7 antibodies. In situ distributions of PAM1 and LM7 epitopes revealed changes in pectin methylesterification in transgenic trees that were specifically localized in expanding wood cells. The results show that en block deesterification of HG by PttPME1 inhibits both symplastic growth and intrusive growth. PttPME1 is therefore involved in mechanisms determining fiber width and length in the wood of aspen trees.

Wood properties of Populus and Betula in long-term exposure to elevated CO₂ and O₃.

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Kostiainen, Katri; Saranpää, Pekka; Lundqvist, Sven-Olof; Kubiske, Mark E; Vapaavuori, Elina

2014-06-01

We studied the interactive effects of elevated concentrations of CO2 and O3 on radial growth and wood properties of four trembling aspen (Populus tremuloides Michx.) clones and paper birch (Betula papyrifera Marsh.) saplings. The material for the study was collected from the Aspen FACE (free-air CO2 enrichment) experiment in Rhinelander (WI, USA). Trees had been exposed to four treatments [control, elevated CO2 (560 ppm), elevated O3 (1.5 times ambient) and combined CO2 + O3 ] during growing seasons 1998-2008. Most treatment responses were observed in the early phase of experiment. Our results show that the CO2- and O3-exposed aspen trees displayed a differential balance between efficiency and safety of water transport. Under elevated CO2, radial growth was enhanced and the trees had fewer but hydraulically more efficient larger diameter vessels. In contrast, elevated O3 decreased radial growth and the diameters of vessels and fibres. Clone-specific decrease in wood density and cell wall thickness was observed under elevated CO2 . In birch, the treatments had no major impacts on wood anatomy or wood density. Our study indicates that short-term impact studies conducted with young seedlings may not give a realistic view of long-term ecosystem responses. © 2013 John Wiley & Sons Ltd.

Ozone uptake (flux) as it relates to ozone-induced foliar symptoms of Prunus serotina and Populus maximowizii x trichocarpa

International Nuclear Information System (INIS)

Orendovici-Best, T.; Skelly, J.M.; Davis, D.D.; Ferdinand, J.A.; Savage, J.E.; Stevenson, R.E.

2008-01-01

Field studies were conducted during 2003 and 2004 from early June to the end of August, at 20 sites of lower or higher elevation within north-central Pennsylvania, using seedlings of black cherry (Prunus serotina, Ehrh.) and ramets of hybrid poplar (Populus maximowizii x trichocarpa). A linear model was developed to estimate the influence of local environmental conditions on stomatal conductance. The most significant factors explaining stomatal variance were tree species, air temperature, leaf vapor pressure deficit, elevation, and time of day. Overall, environmental factors explained less than 35% of the variation in stomatal conductance. Ozone did not affect gas exchange rates in either poplar or cherry. Ozone-induced foliar injury was positively correlated with cumulative ozone exposures, expressed as SUM40. Overall, the amount of foliar injury was better correlated to a flux-based approach rather than to an exposure-based approach. More severe foliar injuries were observed on plants growing at higher elevations. - Within heterogeneous environments, ozone flux does not completely explain the variation observed in ozone-induced visible injury

Myosin-binding Protein C Compound Heterozygous Variant Effect on the Phenotypic Expression of Hypertrophic Cardiomyopathy.

Science.gov (United States)

Rafael, Julianny Freitas; Cruz, Fernando Eugênio Dos Santos; Carvalho, Antônio Carlos Campos de; Gottlieb, Ilan; Cazelli, José Guilherme; Siciliano, Ana Paula; Dias, Glauber Monteiro

2017-04-01

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disease caused by mutations in genes encoding sarcomere proteins. It is the major cause of sudden cardiac death in young high-level athletes. Studies have demonstrated a poorer prognosis when associated with specific mutations. The association between HCM genotype and phenotype has been the subject of several studies since the discovery of the genetic nature of the disease. This study shows the effect of a MYBPC3 compound variant on the phenotypic HCM expression. A family in which a young man had a clinical diagnosis of HCM underwent clinical and genetic investigations. The coding regions of the MYH7, MYBPC3 and TNNT2 genes were sequenced and analyzed. The proband present a malignant manifestation of the disease, and is the only one to express HCM in his family. The genetic analysis through direct sequencing of the three main genes related to this disease identified a compound heterozygous variant (p.E542Q and p.D610H) in MYBPC3. A family analysis indicated that the p.E542Q and p.D610H alleles have paternal and maternal origin, respectively. No family member carrier of one of the variant alleles manifested clinical signs of HCM. We suggest that the MYBPC3-biallelic heterozygous expression of p.E542Q and p.D610H may cause the severe disease phenotype seen in the proband. Resumo A cardiomiopatia hipertrófica (CMH) é uma doença autossômica dominante causada por mutações em genes que codificam as proteínas dos sarcômeros. É a principal causa de morte súbita cardíaca em atletas jovens de alto nível. Estudos têm demonstrado um pior prognóstico associado a mutações específicas. A associação entre genótipo e fenótipo em CMH tem sido objeto de diversos estudos desde a descoberta da origem genética dessa doença. Este trabalho apresenta o efeito de uma mutação composta em MYBPC3 na expressão fenotípica da CMH. Uma família na qual um jovem tem o diagnóstico clínico de CMH foi

Systematic review and metaanalysis of statins for heterozygous familial hypercholesterolemia in children: evaluation of cholesterol changes and side effects.

LENUS (Irish Health Repository)

O'Gorman, Clodagh S

2012-02-01

Heterozygous familial hypercholesterolemia (heFH) affects 1 in 500 individuals. Evidence supports the low-density lipoprotein (LDL)-lowering effect of statins for adults with heFH. However, there are concerns regarding the treatment children with heFH. By performing a systematic review and metaanalysis of the published literature, this study aimed to evaluate the efficacy and safety of statins used for children with heFH. A systematic review was performed by searching multiple medical databases and citations to identify reports of randomized controlled trials of statins used to treat children with heFH. The trials were retrieved, reviewed, and subjected to metaanalysis. The search yielded 2,174 titles. Of the 63 studies retrieved and reviewed, 56 were excluded, 7 were included in the systematic review, and 4 were included in the metaanalysis. Significant heterogeneity was detected. The metaanalysis showed significant LDL lowering, high-density lipoprotein (HDL) cholesterol elevation, and increases in height and weight with statins. The metaanalysis could not be performed for many side effects of statins, but individual trials showed no significant side effects. Quality assessment showed methodologic concerns, with potential for bias. For example, six trials analyzed statin effects without intention to treat despite such a stated intention. Metaanalysis shows significant LDL lowering with statin treatment. Further studies, including epidemiologic and multicenter studies, are required.

Scientific Basis for Sustainable Management of Eucalyptus and Populus as Short-Rotation Woody Crops in the U.S.

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Eric D. Vance

2014-05-01

Full Text Available Short rotation woody crops (SRWC, fast growing tree species that are harvested on short, repeated intervals, can augment traditional fiber sources. These crops have economic and environmental benefits stemming from their capability of supplying fiber on a reduced land base in close proximity to users and when sensitive sites cannot be accessed. Eucalyptus and Populus appear to be genera with the greatest potential to provide supplemental fiber in the U.S. Optimal productivity can be achieved through practices that overcome site limitations and by choosing the most appropriate sites, species, and clones. Some Eucalyptus species are potentially invasive, yet field studies across multiple continents suggest they are slower to disperse than predicted by risk assessments. Some studies have found lower plant and animal diversity in SRWC systems compared to mature, native forests, but greater than some alterative land uses and strongly influenced by stand management, land use history, and landscape context. Eucalyptus established in place of grasslands, arable lands, and, in some cases, native forests can reduce streamflow and lower water tables due to higher interception and transpiration rates but results vary widely, are scale dependent, and are most evident in drier regions.

Nitrogen nutrient status induces sexual differences in responses to cadmium in Populus yunnanensis.

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Chen, Lianghua; Han, Ying; Jiang, Hao; Korpelainen, Helena; Li, Chunyang

2011-10-01

Populus yunnanensis was employed as a model species to detect sexual differences in growth, physiological, biochemical, and ultrastructural responses to cadmium (Cd) stress, nitrogen (N) deposition, and their combination. Compared with the control conditions, Cd decreased plant biomass, damaged the photosynthetic apparatus, visible as a decreased maximum efficiency of photosystem II (PSII; F(v)/F(m)) and effective quantum yield of PSII (Yield), depressed gas exchange capacity, and induced oxidative stress, visible as the disruption of antioxidative enzymes and accumulation of reactive oxygen species (ROS), in both sexes. On the other hand, Cd toxicity was mitigated by the recovery of gas exchange capacity, a decrease in ROS, and improvement of the redox imbalance in both sexes when N deposition was applied. However, males showed a higher gas exchange capacity, lower enzyme inhibition and ROS accumulation, stronger abilities to maintain cellular redox homeostasis, and a better maintenance of chloroplast ultrastructure than did females when exposed to Cd stress alone. Although males exhibited a higher Cd content in leaves than did females, males also accumulated higher levels of non-protein thiols (NP-SHs) and free amino acids (FAAs) for detoxification than did females. Sexual differences induced by Cd, visible, for example, in F(v)/F(m), Yield, net photosynthesis rate (A), and stomatal conductance (g(s)), decreased under N deposition, as no significant differences between the sexes existed in these parameters under the combined treatment. The results indicated that females are more sensitive to Cd stress and suffer more injuries than do males. Moreover, N deposition can mitigate Cd toxicity and decrease sexual differences in Cd sensitivity.

Dicty_cDB: Contig-U03072-1 [Dicty_cDB

Lifescience Database Archive (English)

Full Text Available verselong Onychiurus arcticus d... 38 0.010 2 ( CF439672 ) EST676017 normalized cDNA library of ...ornis cDN... 68 8e-07 1 ( BU884919 ) R017H10 Populus root cDNA library Populus tremula... 68 8e-07 1 ( ...us dormant bud cDNA library Populus ... 60 2e-04 1 ( CK110478 ) N067A08 Populus bark cDNA library Populus tremul...04 1 ( BU887484 ) R062A08 Populus root cDNA library Populus tremula... 60 2e-04 1 ( BU880608 ) UM52TC12 Populus flower cDNA library...us tremula cambium cDNA library Po... 60 2e-04 1 ( BU819297 ) UA42BPA08 Populus tremula cambium cDNA library

A physical map of the heterozygous grapevine 'Cabernet Sauvignon' allows mapping candidate genes for disease resistance

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Scalabrin Simone

2008-06-01

Full Text Available Abstract Background Whole-genome physical maps facilitate genome sequencing, sequence assembly, mapping of candidate genes, and the design of targeted genetic markers. An automated protocol was used to construct a Vitis vinifera 'Cabernet Sauvignon' physical map. The quality of the result was addressed with regard to the effect of high heterozygosity on the accuracy of contig assembly. Its usefulness for the genome-wide mapping of genes for disease resistance, which is an important trait for grapevine, was then assessed. Results The physical map included 29,727 BAC clones assembled into 1,770 contigs, spanning 715,684 kbp, and corresponding to 1.5-fold the genome size. Map inflation was due to high heterozygosity, which caused either the separation of allelic BACs in two different contigs, or local mis-assembly in contigs containing BACs from the two haplotypes. Genetic markers anchored 395 contigs or 255,476 kbp to chromosomes. The fully automated assembly and anchorage procedures were validated by BAC-by-BAC blast of the end sequences against the grape genome sequence, unveiling 7.3% of chimerical contigs. The distribution across the physical map of candidate genes for non-host and host resistance, and for defence signalling pathways was then studied. NBS-LRR and RLK genes for host resistance were found in 424 contigs, 133 of them (32% were assigned to chromosomes, on which they are mostly organised in clusters. Non-host and defence signalling genes were found in 99 contigs dispersed without a discernable pattern across the genome. Conclusion Despite some limitations that interfere with the correct assembly of heterozygous clones into contigs, the 'Cabernet Sauvignon' physical map is a useful and reliable intermediary step between a genetic map and the genome sequence. This tool was successfully exploited for a quick mapping of complex families of genes, and it strengthened previous clues of co-localisation of major NBS-LRR clusters and

Energy dynamics in Populus deltoides G{sub 3} Marsh agroforestry systems in eastern India

Energy Technology Data Exchange (ETDEWEB)

Chaturvedi, O.P. [National Research Centre for Agroforestry, Jhansi (India); Das, D.K. [Rajendra Agricultural Univ., Dept. of Forestry, Bihar (India)

2005-08-01

Energy efficiency of Populus deltoides G{sub 3} Marsh agroforestry of a 3-year-old system with intercropping of maize-wheat in crop I and pigeonpea in crop II and of a 9-year-old system with turmeric, a shade loving crop was studied at Pusa, Bihar in eastern India. Energy fixation, storage, net allocation in agronomic yield and energy released and exit from the 9-year-old system was 1.53, 4.30, 0.43 and 3.37 times in crop I and 1.67, 4.60, 0.53 and 3.30 times in crop II of the 3-year-old agroforestry system. The energy conservation efficiency in the 9-year-old system was higher (1.91%) as compared to crop I (1.24%) and crop II (1.15%) of the 3-year-old agroforestry system. The energy accumulation ratio in the 9-year-old system was 2.82 and 2.77 times higher in crop I and crop II, respectively, of the 3-year-old agroforestry system. The 3-year-old agroforestry system showed lower energy accumulation ratio resulting from less energy accumulation in perennial turnover in the form of leaf of tree and agricultural crops. The crop II system of the 3-year-old poplar agroforestry was more efficient system of management due to higher quanta of energy and higher cash return but one has to opt for shade loving intercrop turmeric with increase in age of the poplar plantation and more canopy closure. (Author)

Genetic, morphological, and spectral characterization of relictual Niobrara River hybrid aspens (Populus × smithii).

Science.gov (United States)

Deacon, Nicholas John; Grossman, Jake Joseph; Schweiger, Anna Katharina; Armour, Isabella; Cavender-Bares, Jeannine

2017-12-01

Aspen groves along the Niobrara River in Nebraska have long been a biogeographic curiosity due to morphological differences from nearby remnant Populus tremuloides populations. Pleistocene hybridization between P. tremuloides and P. grandidentata has been proposed, but the nearest P. grandidentata populations are currently several hundred kilometers east. We tested the hybrid-origin hypothesis using genetic data and characterized putative hybrids phenotypically. We compared nuclear microsatellite loci and chloroplast sequences of Niobrara River aspens to their putative parental species. Parental species and putative hybrids were also grown in a common garden for phenotypic comparison. On the common garden plants, we measured leaf morphological traits and leaf-level spectral reflectance profiles, from which chemical traits were derived. The genetic composition of the three unique Niobrara aspen genotypes is consistent with the hybridization hypothesis and with maternal chloroplast inheritance from P. grandidentata . Leaf margin dentition and abaxial pubescence differentiated taxa, with the hybrids showing intermediate values. Spectral profiles allowed statistical separation of taxa in short-wave infrared wavelengths, with hybrids showing intermediate values, indicating that traits associated with internal structure of leaves and water absorption may vary among taxa. However, reflectance values in the visible region did not differentiate taxa, indicating that traits related to pigments are not differentiated. Both genetic and phenotypic results support the hypothesis of a hybrid origin for these genetically unique aspens. However, low genetic diversity and ongoing ecological and climatic threats to the hybrid taxon present a challenge for conservation of these relictual boreal communities. © 2017 Botanical Society of America.

Poly(ADP-ribose) synthesis following DNA damage in cells heterozygous or homozygous for the xeroderma pigmentosum genotype

International Nuclear Information System (INIS)

McCurry, L.S.; Jacobson, M.K.

1981-01-01

Treatment of normal human cells with DNA-damaging agents such as uv light or N-methyl-N'-nitro-N-nitrosoguanidine (MNNG) stimulates the conversion of NAD to the chromosomal polymer poly(ADP-ribose) which in turn results in a rapid depletion of the cellular NAD pool. The effect of uv light or MNNG on the NAD pools of seven cell lines of human fibroblasts either homozygous or heterozygous for the xeroderma pigmentosum genotype has been studied. Xeroderma pigmentosum cells of genetic complementation groups A, C, and D are deficient in the excision repair of DNA damage caused by uv light. Following uv treatment, the NAD content of these cells was unchanged or only slightly reduced. All of the cell lines are able to excise DNA damage caused by MNNG and all of the cell lines had a greatly reduced content of NAD following MNNG treatment. The results demonstrate a close relationship between the conversion of NAD to poly(ADP-ribose) and DNA excision repair in human cells

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

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Amina Bakhchane

Full Text Available The MYO7A gene encodes a protein belonging to the unconventional myosin super family. Mutations within MYO7A can lead to either non syndromic hearing loss or to the Usher syndrome type 1B (USH1B. Here, we report the results of genetic analyses performed on Moroccan families with autosomal recessive non syndromic hearing loss that identified two families with compound heterozygous MYO7A mutations. Five mutations (c.6025delG, c.6229T>A, c.3500T>A, c.5617C>T and c.4487C>A were identified in these families, the latter presenting two differently affected branches. Multiple bioinformatics programs and molecular modelling predicted the pathogenic effect of these mutations. In conclusion, the absence of vestibular and retinal symptom in the affected patients suggests that these families have the isolated non-syndromic hearing loss DFNB2 (nonsyndromic autosomal recessive hearing loss presentation, instead of USH1B.

Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human Filamin A (FLNA diseases

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Douvaras Panagiotis

2012-02-01

Full Text Available Abstract Background Some abnormalities of mouse corneal epithelial maintenance can be identified by the atypical mosaic patterns they produce in X-chromosome inactivation mosaics and chimeras. Human FLNA/+ females, heterozygous for X-linked, filamin A gene (FLNA mutations, display a range of disorders and X-inactivation mosaicism is sometimes quantitatively unbalanced. FlnaDilp2/+ mice, heterozygous for an X-linked filamin A (Flna nonsense mutation have variable eye, skeletal and other abnormalities, but X-inactivation mosaicism has not been investigated. The aim of this study was to determine whether X-inactivation mosaicism in the corneal epithelia of FlnaDilp2/+ mice was affected in any way that might predict abnormal corneal epithelial maintenance. Results X-chromosome inactivation mosaicism was studied in the corneal epithelium and a control tissue (liver of FlnaDilp2/+ and wild-type (WT female X-inactivation mosaics, hemizygous for the X-linked, LacZ reporter H253 transgene, using β-galactosidase histochemical staining. The corneal epithelia of FlnaDilp2/+ and WT X-inactivation mosaics showed similar radial, striped patterns, implying epithelial cell movement was not disrupted in FlnaDilp2/+ corneas. Corrected stripe numbers declined with age overall (but not significantly for either genotype individually, consistent with previous reports suggesting an age-related reduction in stem cell function. Corrected stripe numbers were not reduced in FlnaDilp2/+ compared with WT X-inactivation mosaics and mosaicism was not significantly more unbalanced in the corneal epithelia or livers of FlnaDilp2/+ than wild-type Flna+/+ X-inactivation mosaics. Conclusions Mosaic analysis identified no major effect of the mouse FlnaDilp2 mutation on corneal epithelial maintenance or the balance of X-inactivation mosaicism in the corneal epithelium or liver.

A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome.

Science.gov (United States)

Morikawa, Shuntaro; Tajima, Toshihiro; Nakamura, Akie; Ishizu, Katsura; Ariga, Tadashi

2017-12-01

Wolfram syndrome (WS) is a disorder characterized by the association of insulin-dependent diabetes mellitus (DM), diabetes insipidus, deafness, and optic nerve atrophy. WS is caused by WFS1 mutations encoding WFS1 protein expressed in endoplasmic reticulum (ER). During ER protein synthesis, misfolded and unfolded proteins accumulate, known as "ER stress". This is attenuated by the unfolded protein response (UPR), which recovers and maintains ER functions. Because WFS1 is a UPR component, mutant WFS1 might cause unresolvable ER stress conditions and cell apoptosis, the major causes underlying WS symptoms. We encountered an 11-month-old Japanese female WS patient with insulin-dependent DM, congenital cataract and severe bilateral hearing loss. Analyze the WFS1 and functional consequence of the patient WFS1 in vitro. The patient WFS1 contained a heterozygous 4 amino acid in-frame deletion (p.N325_I328del). Her mutant WFS1 increased GRP78 and ATF6α promoter activities in the absence of thapsigargin, indicating constitutive ER stress and nuclear factor of activated T-cell reporter activity, reflecting elevated cytosolic Ca 2+ signals. Mutant transfection into cells reduced mRNA expression levels of sarcoplasmic/endoplasmic reticulum Ca 2+ transport ATPase 2b (SERCA2b) compared with wild type. Because SERCA2b is required for ER and cytoplasmic Ca 2+ homeostasis, decreased SERCA2b expression might affect ER Ca 2+ efflux, causing cell apoptosis. A novel heterozygous mutation of WFS1 induced constitutive ER stress through ATF6α activation and ER Ca 2+ efflux, resulting in cell apoptosis. These results provide new insights into the roles of WFS1 in UPR and mechanism of monogenic DM. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Heterozygous Disruption of Autism susceptibility candidate 2 Causes Impaired Emotional Control and Cognitive Memory.

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Kei Hori

Full Text Available Mutations in the Autism susceptibility candidate 2 gene (AUTS2 have been associated with a broad range of psychiatric illnesses including autism spectrum disorders, intellectual disability and schizophrenia. We previously demonstrated that the cytoplasmic AUTS2 acts as an upstream factor for the Rho family small GTPase Rac1 and Cdc42 that regulate the cytoskeletal rearrangements in neural cells. Moreover, genetic ablation of the Auts2 gene in mice has resulted in defects in neuronal migration and neuritogenesis in the developing cerebral cortex caused by inactivation of Rac1-signaling pathway, suggesting that AUTS2 is required for neural development. In this study, we conducted a battery of behavioral analyses on Auts2 heterozygous mutant mice to examine the involvement of Auts2 in adult cognitive brain functions. Auts2-deficient mice displayed a decrease in exploratory behavior as well as lower anxiety-like behaviors in the absence of any motor dysfunction. Furthermore, the capability for novel object recognition and cued associative memory were impaired in Auts2 mutant mice. Social behavior and sensory motor gating functions were, however, normal in the mutant mice as assessed by the three-chamber test and prepulse inhibition test, respectively. Together, our findings indicate that AUTS2 is critical for the acquisition of neurocognitive function.

Recombination and synaptic adjustment in oocytes of mice heterozygous for a large paracentric inversion.

Science.gov (United States)

Torgasheva, Anna A; Rubtsov, Nikolai B; Borodin, Pavel M

2013-03-01

Homologous chromosome synapsis in inversion heterozygotes results in the formation of inversion loops. These loops might be transformed into straight, non-homologously paired bivalents via synaptic adjustment. Synaptic adjustment was discovered 30 years ago; however, its relationship with recombination has remained unclear. We analysed this relationship in female mouse embryos heterozygous for large paracentric inversion In(1)1Rk using immunolocalisation of the synaptonemal complex (SYCP3) and mature recombination nodules (MLH1) proteins. The frequency of cells containing bivalents with inversion loops decreased from 69 % to 28 % during pachytene. If an MLH1 focus was present in the non-homologously paired inverted region of the straight bivalent, it was always located in the middle of the inversion. Most of the small, incompletely adjusted loops contained MLH1 foci near the points at which pairing partners were switched. This observation indicates that the degree of synaptic adjustment depended on the crossover position. Complete synaptic adjustment was only possible if a crossover (CO) was located exactly in the middle of the inversion. If a CO was located at any other site, this interrupted synaptic adjustment and resulted in inversion loops of different sizes with an MLH1 focus at or near the edge of the remaining loop.

Dying piece by piece: carbohydrate dynamics in aspen (Populus tremuloides) seedlings under severe carbon stress.

Science.gov (United States)

Wiley, Erin; Hoch, Günter; Landhäusser, Simon M

2017-11-02

Carbon starvation as a mechanism of tree mortality is poorly understood. We exposed seedlings of aspen (Populus tremuloides) to complete darkness at 20 or 28 °C to identify minimum non-structural carbohydrate (NSC) concentrations at which trees die and to see if these levels vary between organs or with environmental conditions. We also first grew seedlings under different shade levels to determine if size affects survival time under darkness due to changes in initial NSC concentration and pool size and/or respiration rates. Darkness treatments caused a gradual dieback of tissues. Even after half the stem had died, substantial starch reserves were still present in the roots (1.3-3% dry weight), indicating limitations to carbohydrate remobilization and/or transport during starvation in the absence of water stress. Survival time decreased with increased temperature and with increasing initial shade level, which was associated with smaller biomass, higher respiration rates, and initially smaller NSC pool size. Dead tissues generally contained no starch, but sugar concentrations were substantially above zero and differed between organs (~2% in stems up to ~7.5% in leaves) and, at times, between temperature treatments and initial, pre-darkness shade treatments. Minimum root NSC concentrations were difficult to determine because dead roots quickly began to decompose, but we identify 5-6% sugar as a potential threshold for living roots. This variability may complicate efforts to identify critical NSC thresholds below which trees starve. © Society for Experimental Biology 2017.

The genetic architecture of shoot-root covariation during seedling emergence of a desert tree, Populus euphratica.

Science.gov (United States)

Zhang, Miaomiao; Bo, Wenhao; Xu, Fang; Li, Huan; Ye, Meixia; Jiang, Libo; Shi, Chaozhong; Fu, Yaru; Zhao, Guomiao; Huang, Yuejiao; Gosik, Kirk; Liang, Dan; Wu, Rongling

2017-06-01

The coordination of shoots and roots is critical for plants to adapt to changing environments by fine-tuning energy production in leaves and the availability of water and nutrients from roots. To understand the genetic architecture of how these two organs covary during developmental ontogeny, we conducted a mapping experiment using Euphrates poplar (Populus euphratica), a so-called hero tree able to grow in the desert. We geminated intraspecific F 1 seeds of Euphrates Poplar individually in a tube to obtain a total of 370 seedlings, whose shoot and taproot lengths were measured repeatedly during the early stage of growth. By fitting a growth equation, we estimated asymptotic growth, relative growth rate, the timing of inflection point and duration of linear growth for both shoot and taproot growth. Treating these heterochronic parameters as phenotypes, a univariate mapping model detected 19 heterochronic quantitative trait loci (hQTLs), of which 15 mediate the forms of shoot growth and four mediate taproot growth. A bivariate mapping model identified 11 pleiotropic hQTLs that determine the covariation of shoot and taproot growth. Most QTLs detected reside within the region of candidate genes with various functions, thus confirming their roles in the biochemical processes underlying plant growth. © 2017 The Authors The Plant Journal © 2017 John Wiley & Sons Ltd.

Lead tolerance of Populus nigra in symbiosis with arbuscular mycorrhizal fungi in relation to physiological parameters

International Nuclear Information System (INIS)

Salehi, A.; Tabari, M.; Mohammadi Goltapeh, E.; Shirvani, A.

2016-01-01

With the aim to examine lead tolerance of Populus nigra (clone 62/154) in symbiosis witharbuscular mycorrhizal fungi, a greenhouse experiment was carried out in a factorial randomized complete scheme with two factors 1) fungal inoculation in 4 levels (control, inoculation with Glomus mosseae, inoculation with G. intraradices and inoculation with G. mosseae+G. intraradices) and 2) lead in 4 levels (0, 100, 500 and 1000 mg kg-1 soil). Mycorrhizal colonization and physiological parameters of plants were measured at the end of growth season. Results showed that at all Pb levels, the percentage of root mycorrhizal colonization in fungal treatments was significantly higher than that in control treatment (without fungal inoculation), however without significant differences between 3 fungal treatments. Pb treatments had no significant effect on root mycorrhizal colonization of P. nigra plants. Also, photosynthesis, stomatal conductance, transpiration, intercellular CO2 concentration and water use efficiency of P. nigra plants had no significant inhibitory effects versus the control found under Pb and fungal treatments or their interaction.The results of present study demonstrated that fungal treatments had no significant effects on physiological parameters and Pb tolerance of P. nigraplants. While, in relation to mycorrhizal colonization and physiological parameters, P. nigra clone 62/154 showeda good tolerance to Pb stress. So, in further investigations of phytoremediation of lead-contaminated soils, this clone can be considered as a proposed species.

Heterozygous deletion at the RLN1 locus in a family with testicular germ cell cancer identified by integrating copy number variation data with phenome and interactome information

DEFF Research Database (Denmark)

Edsgärd, D; Scheel, M; Hansen, N T

2011-01-01

-associated genes among loci targeted by CNVs. The top-ranked candidate, RLN1, encoding a Relaxin-H1 peptide, although only detected in one of the families, was selected for further investigations. Validation of the CNV at the RLN1 locus was performed as an association study using qPCR with 106 sporadic testicular...... GCT patients and 200 healthy controls. Observed CNV frequencies of 1.9% among cases and 1.5% amongst controls were not significantly different and this was further confirmed by CNV data extracted from a genome-wide analysis of 189 cases and 380 controls, where similar frequencies of 2.2% were observed....... Collectively, the findings show that a heterozygous loss at the RLN1 locus is not a genetic factor mediating high population-wide risk for testicular germ cell tumour, but do not exclude a contribution of this aberration in some cases of cancer. The preliminary expression data suggest a possible role...

Heterozygous deletion at the RLN1 locus in a family with testicular germ cell cancer identified by integrating copy number variation data with phenome and interactome information

DEFF Research Database (Denmark)

Edsgard, Stefan Daniel; Scheel, M.; Hansen, Niclas Tue

2011-01-01

‐associated genes among loci targeted by CNVs. The top‐ranked candidate, RLN1, encoding a Relaxin‐H1 peptide, although only detected in one of the families, was selected for further investigations. Validation of the CNV at the RLN1 locus was performed as an association study using qPCR with 106 sporadic testicular...... GCT patients and 200 healthy controls. Observed CNV frequencies of 1.9% among cases and 1.5% amongst controls were not significantly different and this was further confirmed by CNV data extracted from a genome‐wide analysis of 189 cases and 380 controls, where similar frequencies of 2.2% were observed...... and spermatids. Collectively, the findings show that a heterozygous loss at the RLN1 locus is not a genetic factor mediating high population‐wide risk for testicular germ cell tumour, but do not exclude a contribution of this aberration in some cases of cancer. The preliminary expression data suggest a possible...

Functional recovery of regenerating motor axons is delayed in mice heterozygously deficient for the myelin protein P(0) gene

DEFF Research Database (Denmark)

Rosberg, Mette Romer; Alvarez, Susana; Krarup, Christian

2013-01-01

Mice with a heterozygous knock-out of the myelin protein P0 gene (P0+/-) develop a neuropathy similar to human Charcot-Marie-Tooth disease. They are indistinguishable from wild-types (WT) at birth and develop a slowly progressing demyelinating neuropathy. The aim of this study was to investigate...... whether the regeneration capacity of early symptomatic P0+/- is impaired as compared to age matched WT. Right sciatic nerves were lesioned at the thigh in 7-8 months old mice. Tibial motor axons at ankle were investigated by conventional motor conduction studies and axon excitability studies using...... threshold tracking. To evaluate regeneration we monitored the recovery of motor function after crush, and then compared the fiber distribution by histology. The overall motor performance was investigated using Rotor-Rod. P0+/- had reduced compound motor action potential amplitudes and thinner myelinated...

Changes in 5-HT4 receptor and 5-HT transporter binding in olfactory bulbectomized and glucocorticoid receptor heterozygous mice

DEFF Research Database (Denmark)

Licht, Cecilie L; Kirkegaard, Lisbeth; Zueger, Maha

2010-01-01

. The olfactory bulbectomized mice displayed increased activity in the open field test, a characteristic depression-like feature of this model. After bulbectomy, 5-HT(4) receptor binding was increased in the ventral hippocampus (12%) but unchanged in the dorsal hippocampus, frontal and caudal caudate putamen......]citalopram in two murine models of depression-related states, olfactory bulbectomy and glucocorticoid receptor heterozygous (GR(+/-)) mice. The olfactory bulbectomy model is characterized by 5-HT system changes, while the GR(+/-) mice have a deficit in hypothalamic-pituitary-adrenal (HPA) system control....... Among post hoc analyzed regions, there was a 14% decrease in 5-HT(4) receptor binding in the olfactory tubercles. The 5-HTT binding was unchanged in the hippocampus and caudate putamen of bulbectomized mice but post hoc analysis showed small decreases in lateral septum and lateral globus pallidus...

Assessment of Iron Overload in Homozygous and Heterozygous Beta Thalassemic Children below 5 Years of Age

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Dhiraj J. Trivedi

2014-07-01

Full Text Available Background: Thalassemia is a genetic disease having 3-7% carrier rate in Indians. It is transfusion dependent anemia having high risk of iron overloading. A clinical symptom of iron overload becomes detectable in second decade causing progressive liver, heart and endocrine glands damage. There is a need to assess iron overload in thalassemics below 5 years of age to protect them from complications at later age of life. Aims and objectives: Present study was undertaken to estimate serum iron status and evaluate serum transferrin saturation in both homozygous & heterozygous form of thalassemia as an index of iron overload among children of one to five years of age. Materials and Methods: Clinically diagnosed thirty cases of β thalassemia major & thirty cases of β thalassemia minor having severe anemia, hepatospleenomegaly and between 1 year to 5 years of age were included in study group and same age matched healthy controls were included in the study. RBC indices and HbA, HbA2 and HbF were estimated along with serum iron & serum Total Iron Binding Capacity (TIBC and serum transferrin levels. Results: Significant difference was observed in hemoglobin levels between control and both beta thalassemia groups. Mean Corpuscular Volume (MCV and Mean Corpuscular Hemoglobin (MCH values were reduced. Hemoglobin electrophoresis showed the elevated levels of HbF and HbA2 in both beta thalassemia groups. Among serum iron parameters, serum iron, TIBC and transferrin saturation were elevated whereas serum transferrin levels were low in thalassemia major in children below 5 years of age. Conclusion: Although clinical symptoms of iron overload have been absent in thalassemic children below five years of age, biochemical iron overloading has started at much lower age which is of great concern.

Linking the salt transcriptome with physiological responses of a salt-resistant Populus species as a strategy to identify genes important for stress acclimation.

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Brinker, Monika; Brosché, Mikael; Vinocur, Basia; Abo-Ogiala, Atef; Fayyaz, Payam; Janz, Dennis; Ottow, Eric A; Cullmann, Andreas D; Saborowski, Joachim; Kangasjärvi, Jaakko; Altman, Arie; Polle, Andrea

2010-12-01

To investigate early salt acclimation mechanisms in a salt-tolerant poplar species (Populus euphratica), the kinetics of molecular, metabolic, and physiological changes during a 24-h salt exposure were measured. Three distinct phases of salt stress were identified by analyses of the osmotic pressure and the shoot water potential: dehydration, salt accumulation, and osmotic restoration associated with ionic stress. The duration and intensity of these phases differed between leaves and roots. Transcriptome analysis using P. euphratica-specific microarrays revealed clusters of coexpressed genes in these phases, with only 3% overlapping salt-responsive genes in leaves and roots. Acclimation of cellular metabolism to high salt concentrations involved remodeling of amino acid and protein biosynthesis and increased expression of molecular chaperones (dehydrins, osmotin). Leaves suffered initially from dehydration, which resulted in changes in transcript levels of mitochondrial and photosynthetic genes, indicating adjustment of energy metabolism. Initially, decreases in stress-related genes were found, whereas increases occurred only when leaves had restored the osmotic balance by salt accumulation. Comparative in silico analysis of the poplar stress regulon with Arabidopsis (Arabidopsis thaliana) orthologs was used as a strategy to reduce the number of candidate genes for functional analysis. Analysis of Arabidopsis knockout lines identified a lipocalin-like gene (AtTIL) and a gene encoding a protein with previously unknown functions (AtSIS) to play roles in salt tolerance. In conclusion, by dissecting the stress transcriptome of tolerant species, novel genes important for salt endurance can be identified.

Towards a map of the Populus biomass protein-protein interaction network

Energy Technology Data Exchange (ETDEWEB)

Beers, Eric [Virginia Polytechnic Inst. and State Univ. (Virginia Tech), Blacksburg, VA (United States); Brunner, Amy [Virginia Polytechnic Inst. and State Univ. (Virginia Tech), Blacksburg, VA (United States); Helm, Richard [Virginia Polytechnic Inst. and State Univ. (Virginia Tech), Blacksburg, VA (United States); Dickerman, Allan [Virginia Polytechnic Inst. and State Univ. (Virginia Tech), Blacksburg, VA (United States)

2015-07-31

Biofuels can be produced from a variety of plant feedstocks. The value of a particular feedstock for biofuels production depends in part on the degree of difficulty associated with the extraction of fermentable sugars from the plant biomass. The wood of trees is potentially a rich source fermentable sugars. However, the sugars in wood exist in a tightly cross-linked matrix of cellulose, hemicellulose, and lignin, making them largely recalcitrant to release and fermentation for biofuels production. Before breeders and genetic engineers can effectively develop plants with reduced recalcitrance to fermentation, it is necessary to gain a better understanding of the fundamental biology of the mechanisms responsible for wood formation. Regulatory, structural, and enzymatic proteins are required for the complicated process of wood formation. To function properly, proteins must interact with other proteins. Yet, very few of the protein-protein interactions necessary for wood formation are known. The main objectives of this project were to 1) identify new protein-protein interactions relevant to wood formation, and 2) perform in-depth characterizations of selected protein-protein interactions. To identify relevant protein-protein interactions, we cloned a set of approximately 400 genes that were highly expressed in the wood-forming tissue (known as secondary xylem) of poplar (Populus trichocarpa). We tested whether the proteins encoded by these biomass genes interacted with each other in a binary matrix design using the yeast two-hybrid (Y2H) method for protein-protein interaction discovery. We also tested a subset of the 400 biomass proteins for interactions with all proteins present in wood-forming tissue of poplar in a biomass library screen design using Y2H. Together, these two Y2H screens yielded over 270 interactions involving over 75 biomass proteins. For the second main objective we selected several interacting pairs or groups of interacting proteins for in

Diagnosis of a rare double heterozygous Hb D Punjab/Hb Q India hemoglobinopathy using Sebia capillary zone electrophoresis

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Sushama Parab

2014-01-01

Full Text Available In India, hemoglobinopathies constitute a major genetic disorder and hemoglobin variants such as Hb S, Hb D Punjab, and Hb E are the most common ones. Other variants include Hb Q India, Hb Lepore, Hb J Meerut, Hb D Iran, etc. These variants show heterozygous state along with beta thalassemia. However, compound heterozygosities among these variants are very rare. Ethylenediaminetetraacetic acid whole blood sample received for routine thalassemia screening was subjected to alkaline electrophoresis using automated capillary zone electrophoresis. Suspecting the presence of rare variants, further analysis was carried out using Bio-Rad D10 and Tosoh G8 high-performance liquid chromatography (HPLC systems. Capillary zone electrophoretograms showed the presence of peaks in zone Hb A, Hb D, a fused peak in Hb A2, and a small peak in Z1 zone. Bio-Rad and Tosoh chromatograms also indicated the presence of four peaks which are identified as Hb A, Hb D Punjab, Hb Q India, and hybrid of Hb D Punjab/Hb Q India. A peak in Hb D zone of capillary was due to co-migration of Hb D Punjab and Hb Q India variants. Small peak in Z1 zone indicated the presence of alpha chain variant Hb Q India. The findings were further confirmed by HPLC results and molecular genetic studies. The present study reports for the 1 st time a rare hemoglobinopathy of double heterozygosity for Hb D Punjab, Hb Q India on Capillarys 2 Flex Piercing analyzer and is forth reported case for this rare hemoglobinopathy.

Anxiety, depression, and health-related quality of life in heterozygous familial hypercholesterolemia: A systematic review and meta-analysis.

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Akioyamen, Leo E; Genest, Jacques; Shan, Shubham D; Inibhunu, Happy; Chu, Anna; Tu, Jack V

2018-06-01

Heterozygous familial hypercholesterolemia (FH) is a common genetic disease predisposing affected individuals to a high risk of cardiovascular disease. Yet, considerable uncertainty exists regarding its impact on psychosocial wellbeing. We performed a systematic review and meta-analysis of the association between FH and symptoms of anxiety and depression, and health-related quality of life (HRQL). We searched MEDLINE, EMBASE, Global Health, the Cochrane Library, PsycINFO, and PubMed for peer-reviewed literature published in English between January 1, 1990 and January 1, 2018. Quantitative and qualitative studies were eligible if they included patients with confirmed FH and evaluated its association with symptoms of anxiety or depression, or HRQL. We performed a narrative synthesis of studies, including thematic analysis of qualitative studies, and where data permitted, random-effects meta-analysis reporting standardized mean differences (SMD) and 95% confidence intervals. We found 10 eligible studies measuring HRQL, depression and anxiety. Random-effects meta-analysis of 4 (n = 4293) and 5 studies (n = 5098), respectively, showed that patients with FH had slightly lower symptoms of anxiety (SMD: -0.29 [95% CI: -0.53, -0.04]) and mental HRQL (SMD: -0.10 [95% -0.20, -0.00]) relative to general population controls. No significant differences existed in depressive symptoms (SMD: 0.04 [95% CI: -0.12, 0.19]) or physical HRQL scores (SMD: 0.02 [95% CI: -0.09, 0.12]). Our systematic review suggests that patients with FH may report small but measurable differences in anxiety symptoms and mental HRQL. Copyright © 2018 Elsevier Inc. All rights reserved.

Rapid continental-scale vegetation response to the Younger Dryas Cool Episode

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Peros, M.; Gajewski, K.; Viau, A.

2006-12-01

The Younger Dryas Cool Episode had rapid and widespread effects on flora and fauna throughout the Americas. Fossil pollen records document how plant communities responded to this event, although such data are generally only representative of changes at local- to regional-scales. We use a new approach to provide insight into vegetation responses to the Younger Dryas at a continental-scale, by focusing on data extracted for a single taxon (Populus poplar, cottonwood, aspen) from pollen diagrams throughout North America. We show that Populus underwent a rapid and continent-wide decline as the climate rapidly cooled and dried. At the termination of the Younger Dryas, Populus underwent another widespread decline, this time in response to competition from boreal and temperate taxa as the climate abruptly warmed. Late glacial-early Holocene pollen assemblages with high quantities of Populus pollen often lack modern analogues and thus confound quantitative paleoclimatic reconstructions; our results provide a context to interpret these assemblages. Furthermore, while Populus may continue to expand in the future in response to human disturbance and increasing temperatures, its sensitivity to competition may eventually put it at risk as global warming accelerates.

Sex-specific responses of Populus yunnanensis exposed to elevated CO{sub 2} and salinity

Energy Technology Data Exchange (ETDEWEB)

Ling Li; Yuanbin Zhang; Chunyang Li [Chinese Academy of Sciences. Chengdu Institute of Biology, Chengdu (Switzerland); Jianxun Luo, Sichuan Academy of Forestry, Chengdu (Switzerland)); Korpelainen, H. [Univ. of Helsinki. Dept. of Agricultural Sciences, Helsinki (Finland)

2013-04-15

Populus yunnanensis Dode., a native dioecious woody plant in southwestern China, was employed as a model species to study sex-specific morphological, physiological and biochemical responses to elevated CO{sub 2} and salinity. To investigate the effects of elevated CO{sub 2}, salinity and their combination, the cuttings were exposed to two CO{sub 2} regimes (ambient CO{sub 2} and double ambient CO{sub 2}) and two salt treatments in growth chambers. Males exhibited greater downregulation of net photosynthesis rate (A{sub net}) and carboxylation efficiency (CE) than females at elevated CO{sub 2}, whereas these sexual differences were lessened under salt stress. On the other hand, salinity induced a higher decrease in Anet and CE, more growth inhibition and leaf Cl{sup -} accumulation and more damage to cell organelles in females than in males, whereas the sexual differences in photosynthesis and growth were lessened at elevated CO{sub 2}. Moreover, elevated CO{sub 2} exacerbated membrane lipid peroxidation and organelle damage in females but not in males under salt stress. Our results indicated that: (1) females are more sensitive and suffer from greater negative effects than do males under salt stress, and elevated CO{sub 2} lessens the sexual differences in photosynthesis and growth under salt stress; (2) elevated CO{sub 2} tends to aggravate the negative effects of salinity in females; and (3) sex-specific reactions under the combination of elevated CO{sub 2} and salinity are distinct from single-stress responses. Therefore, these results provide evidence for different adaptive responses between plants of different sexes exposed to elevated CO{sub 2} and salinity. (Author)

White popular (Populus alba L.) - Litter impact on chemical and biochemical parameters related to nitrogen cycle in contaminated soils

Energy Technology Data Exchange (ETDEWEB)

Ciadamidaro, L.; Madejon, P.; Cabrera, F.; Madejon, E.

2014-06-01

Aim of study: The aim of this study was to determine the effect of litter from Populus alba on chemical and biochemical properties related to the N cycle in soils with different pH values and trace element contents. We hypothesized that this litter would influence several parameters related to the N cycle and consequently to soil health. Area of study: we collected two reforested contaminated soils of different pH values (AZ pH 7.23 and DO pH 2.66) and a non-contaminated soil (RHU pH 7.19). Materials and methods: Soil samples were placed in 2,000 cm{sup 3} microcosms and were incubated for 40 weeks in controlled conditions. Each soil was mixed with its corresponding litter, and soils without litter were also tested for comparison. Ammonium (NH{sub 4}{sup 4}+-N) and nitrate (NO{sub 3}{sup -} -N) content, potential nitrification rate (PNR), microbial biomass nitrogen (MBN), protease activity, and several chemical properties such as pH, available trace element concentrations (extracted with 0.01 M CaCl{sub 2}) were determined at different times of incubation. Main results: Values of available trace elements did not vary during the incubation and were always higher in acid soil. In neutral soils litter presence increased values of Kjeldahl-N, NO{sub 3} –-N content, potential nitrification rate (PNR), microbial biomass nitrogen (MBN) and protease activity. Presence of trace elements in neutral soils did not alter the parameters studied. However, acidic pH and high content of available trace elements strongly affected NH{sub 4}{sup +}-N and NO{sub 3}{sup -} -N, microbial biomass N and protease activity. Research highlights: Our results showed the negative effect of the acidity and trace element availability in parameters related with the N-cycle. (Author)

White poplar (Populus alba L. - Litter impact on chemical and biochemical parameters related to nitrogen cycle in contaminated soils

Directory of Open Access Journals (Sweden)

Paula Madejon

2014-04-01

Full Text Available Aim of study: The aim of this study was to determine the effect of litter from Populus alba on chemical and biochemical properties related to the N cycle in soils with different pH values and trace element contents. We hypothesized that this litter would influence several parameters related to the N cycle and consequently to soil health.Area of study: we collected two reforested contaminated soils of different pH values (AZ pH 7.23 and DO pH = 2.66 and a non-contaminated soil (RHU pH 7.19.Materials and methods: Soil samples were placed in 2,000 cm3 microcosms and were incubated for 40 weeks in controlled conditions. Each soil was mixed with its corresponding litter, and soils without litter were also tested for comparison. Ammonium (NH4+-N and nitrate (NO3–-N content, potential nitrification rate (PNR, microbial biomass nitrogen (MBN, protease activity, and several chemical properties such as pH, available trace element concentrations (extracted with 0.01 M CaCl2 were determined at different times of incubation.Main results: Values of available trace elements did not vary during the incubation and were always higher in acid soil. In neutral soils litter presence increased values of Kjeldahl-N, NO3–-N content, potential nitrification rate (PNR, microbial biomass nitrogen (MBN and protease activity. Presence of trace elements in neutral soils did not alter the parameters studied. However, acidic pH and high content of available trace elements strongly affected NH4+-N andNO3–-N, microbial biomass N and protease activity.Research highlights: Our results showed the negative effect of the acidity and trace element availability in parameters related with the N-cycle.Key words: microbial biomass N; protease activity; soil pH; N mineralization; nitrification; phytoremediation.

Explosive mutation accumulation triggered by heterozygous human Pol ε proofreading-deficiency is driven by suppression of mismatch repair

Science.gov (United States)

Campbell, Brittany B; Ungerleider, Nathan; Light, Nicholas; Wu, Tong; LeCompte, Kimberly G; Goksenin, A Yasemin; Bunnell, Bruce A; Tabori, Uri; Shlien, Adam

2018-01-01

Tumors defective for DNA polymerase (Pol) ε proofreading have the highest tumor mutation burden identified. A major unanswered question is whether loss of Pol ε proofreading by itself is sufficient to drive this mutagenesis, or whether additional factors are necessary. To address this, we used a combination of next generation sequencing and in vitro biochemistry on human cell lines engineered to have defects in Pol ε proofreading and mismatch repair. Absent mismatch repair, monoallelic Pol ε proofreading deficiency caused a rapid increase in a unique mutation signature, similar to that observed in tumors from patients with biallelic mismatch repair deficiency and heterozygous Pol ε mutations. Restoring mismatch repair was sufficient to suppress the explosive mutation accumulation. These results strongly suggest that concomitant suppression of mismatch repair, a hallmark of colorectal and other aggressive cancers, is a critical force for driving the explosive mutagenesis seen in tumors expressing exonuclease-deficient Pol ε. PMID:29488881

Effects of LSD on grooming behavior in serotonin transporter heterozygous (Sert⁺/⁻) mice.

Science.gov (United States)

Kyzar, Evan J; Stewart, Adam Michael; Kalueff, Allan V

2016-01-01

Serotonin (5-HT) plays a crucial role in the brain, modulating mood, cognition and reward. The serotonin transporter (SERT) is responsible for the reuptake of 5-HT from the synaptic cleft and regulates serotonin signaling in the brain. In humans, SERT genetic variance is linked to the pathogenesis of various psychiatric disorders, including anxiety, autism spectrum disorders (ASD) and obsessive-compulsive disorder (OCD). Rodent self-grooming is a complex, evolutionarily conserved patterned behavior relevant to stress, ASD and OCD. Genetic ablation of mouse Sert causes various behavioral deficits, including increased anxiety and grooming behavior. The hallucinogenic drug lysergic acid diethylamide (LSD) is a potent serotonergic agonist known to modulate human and animal behavior. Here, we examined heterozygous Sert(+/-) mouse behavior following acute administration of LSD (0.32 mg/kg). Overall, Sert(+/-) mice displayed a longer duration of self-grooming behavior regardless of LSD treatment. In contrast, LSD increased serotonin-sensitive behaviors, such as head twitching, tremors and backwards gait behaviors in both Sert(+/+) and Sert(+/-) mice. There were no significant interactions between LSD treatment and Sert gene dosage in any of the behavioral domains measured. These results suggest that Sert(+/-) mice may respond to the behavioral effects of LSD in a similar manner to wild-type mice. Copyright © 2015 Elsevier B.V. All rights reserved.

[Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family].

Science.gov (United States)

Qi, Yan-hua; Dang, Xiu-hong; Su, Hong; Zhou, Nan; Liang, Ting; Wang, Zheng; Huang, Shang-zhi

2010-02-01

The aim of this study was to identify mutations of CHST6 gene in a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes of MCD. Corneal button of the proband was obtained from penetrating keratoplasty for the treatment of severe corneal dystrophy. The sections and ultrathin sections of this specimen were examined under light microscope and transmission electron microscope (TEM). Genomic DNA was extracted from leukocytes in peripheral blood from the family members. The coding region of CHST6 was amplified by polymerase chain reaction (PCR). The PCR products were analyzed by direct sequencing and restriction enzyme digestion. Histochemical study revealed positive results of colloidal iron stain. TEM revealed enlargement of smooth endoplasmic reticulum and the presence of intracytoplasmic vacuoles. Two mutations, Q298X Y358H, were identified in exon 3 of CHST6. Three patients were compound heterozygotes of these two mutations. The C892T transversion occurred at codon 298 turned the codon of glutamine to a stop codon; the T1072C transversion occurred at codon 358 caused a missense mutation, tyrosine to histidine. All six unaffected family members were heterozygotes. These two mutations were not detected in any of the 100 control subjects. The novel compound heterozygous mutation results in loss of CHST6 function and causes the occurrence of MCD. This is the first report of this gene mutation.

Ethylene and jasmonic acid act as negative modulators during mutualistic symbiosis between Laccaria bicolor and Populus roots.

Science.gov (United States)

Plett, Jonathan M; Khachane, Amit; Ouassou, Malika; Sundberg, Björn; Kohler, Annegret; Martin, Francis

2014-04-01

The plant hormones ethylene, jasmonic acid and salicylic acid have interconnecting roles during the response of plant tissues to mutualistic and pathogenic symbionts. We used morphological studies of transgenic- or hormone-treated Populus roots as well as whole-genome oligoarrays to examine how these hormones affect root colonization by the mutualistic ectomycorrhizal fungus Laccaria bicolor S238N. We found that genes regulated by ethylene, jasmonic acid and salicylic acid were regulated in the late stages of the interaction between L. bicolor and poplar. Both ethylene and jasmonic acid treatments were found to impede fungal colonization of roots, and this effect was correlated to an increase in the expression of certain transcription factors (e.g. ETHYLENE RESPONSE FACTOR1) and a decrease in the expression of genes associated with microbial perception and cell wall modification. Further, we found that ethylene and jasmonic acid showed extensive transcriptional cross-talk, cross-talk that was opposed by salicylic acid signaling. We conclude that ethylene and jasmonic acid pathways are induced late in the colonization of root tissues in order to limit fungal growth within roots. This induction is probably an adaptive response by the plant such that its growth and vigor are not compromised by the fungus. © 2013 The Authors New Phytologist © 2013 New Phytologist Trust.

[Spatiotemporal variation of Populus euphratica's radial increment at lower reaches of Tarim River after ecological water transfer].

Science.gov (United States)

An, Hong-Yan; Xu, Hai-Liang; Ye, Mao; Yu, Pu-Ji; Gong, Jun-Jun

2011-01-01

Taking the Populus euphratica at lower reaches of Tarim River as test object, and by the methods of tree dendrohydrology, this paper studied the spatiotemporal variation of P. euphratic' s branch radial increment after ecological water transfer. There was a significant difference in the mean radial increment before and after ecological water transfer. The radial increment after the eco-water transfer was increased by 125%, compared with that before the water transfer. During the period of ecological water transfer, the radial increment was increased with increasing water transfer quantity, and there was a positive correlation between the annual radial increment and the total water transfer quantity (R2 = 0.394), suggesting that the radial increment of P. euphratica could be taken as the performance indicator of ecological water transfer. After the ecological water transfer, the radial increment changed greatly with the distance to the River, i.e. , decreased significantly along with the increasing distance to the River (P = 0.007). The P. euphratic' s branch radial increment also differed with stream segment (P = 0.017 ), i.e. , the closer to the head-water point (Daxihaizi Reservoir), the greater the branch radial increment. It was considered that the limited effect of the current ecological water transfer could scarcely change the continually deteriorating situation of the lower reaches of Tarim River.

[Hydraulic limitation on photosynthetic rate of old Populus simonii trees in sandy soil of north Shaanxi Province].

Science.gov (United States)

Zuo, Li-Xiang; Li, Yang-Yang; Chen, Jia-Cun

2014-06-01

'Old and dwarf trees' on the loess plateau region mainly occurred among mature trees rather than among small trees. To elucidate the mechanism of tree age on 'old and dwarf trees' formation, taking Populus simonii, a tree species that accounted for the largest portion of 'old and dwarf trees' on the loess plateau, as an example, the growth, photosynthesis and hydraulic traits of P. simonii trees with different ages (young: 13-15 years, mid-aged: 31-34 years, and old: 49-54 years) were measured. The results showed that the dieback length increased, and net photosynthetic rate, stomatal conductance, transpiration rate, and whole plant hydraulic conductance decreased significantly with the increasing tree age. Both net photosynthetic rate and stomatal conductance measured at different dates were significantly and positively related to the whole plant hydraulic conductance, suggesting that the decreasing photosynthetic rate of old trees was possibly caused by the declined hydraulic conductance. Although the resistance to cavitation in stems and leaves was stronger in old trees than in young and mid-aged trees, there were no differences in midday native stem embolization degree and leaf hydraulic conductance based on the vulnerability curve estimation, suggesting that the increased hydraulic resistance of the soil-root system is probably the most important reason for decreasing the whole plant hydraulic conductance of old trees.

Nutrient concentrations in coarse and fine woody debris of Populus tremuloides Michx.-dominated forests, northern Minnesota, USA

Science.gov (United States)

Klockow, Paul A.; D'Amato, Anthony W.; Bradford, John B.; Fraver, Shawn

2014-01-01

Contemporary forest harvesting practices, specifically harvesting woody biomass as a source of bioenergy feedstock, may remove more woody debris from a site than conventional harvesting. Woody debris, particularly smaller diameter woody debris, plays a key role in maintaining ecosystem nutrient stores following disturbance. Understanding nutrient concentrations within woody debris is necessary for assessing the long-term nutrient balance consequences of altered woody debris retention, particularly in forests slated for use as bioenergy feedstocks. Nutrient concentrations in downed woody debris of various sizes, decay classes, and species were characterized within one such forest type, Populus tremuloides Michx.-dominated forests of northern Minnesota, USA. Nutrient concentrations differed significantly between size and decay classes and generally increased as decay progressed. Fine woody debris (≤ 7.5 cm diameter) had higher nutrient concentrations than coarse woody debris (> 7.5 cm diameter) for all nutrients examined except Na and Mn, and nutrient concentrations varied among species. Concentrations of N, Mn, Al, Fe, and Zn in coarse woody debris increased between one and three orders of magnitude, while K decreased by an order of magnitude with progressing decay. The variations in nutrient concentrations observed here underscore the complexity of woody debris nutrient stores in forested ecosystems and suggest that retaining fine woody debris at harvest may provide a potentially important source of nutrients following intensive removals of bioenergy feedstocks.

Energy sensitivity and variability analysis of Populus hybrid short-rotation plantations in northeastern United States. Final report

Energy Technology Data Exchange (ETDEWEB)

Bowersox, T.W.; Blankenhorn, P.R.

1979-10-24

Production of biomass by corn-like plantations has been demonstrated by a number of researchers. These forest analogs of agronomic cropping systems have the potential to yield substantially more biomass per unit area than traditional forests. Care is needed in choosing the appropriate sites, species, spacing, and harvesting strategies. Opportunities for increased yields have been suggested for fertilization and irrigation. Utilization of the biomass from these dense plantations for energy was the focus of this study. Although the amount of energy potential of the biomass is important, the energy output must be greater than the energy input for biomass to have a positive benefit to society. Further, in order to completely evaluate the net energy of the system it is necessary to examine the energy out-to-in ratios on the basis of usable energy (for example, usable heat, process steam and electricity), as well as all of the energies expended in producing, harvesting, transporting and processing the biomass. The objective of this study is to establish and analyze the energy inputs for selected management strategies in order to evaluate the sensitivity and variability of the energy inputs in the net energy analysis, and based on the net energy analysis to recommend a management strategy that minimizes energy inputs while maximizing biomass yield for short-rotation systems of Populus spp. in the northeastern United States.

Effect of applying an arsenic-resistant and plant growth-promoting rhizobacterium to enhance soil arsenic phytoremediation by Populus deltoides LH05-17.

Science.gov (United States)

Wang, Q; Xiong, D; Zhao, P; Yu, X; Tu, B; Wang, G

2011-11-01

Bioremediation of highly arsenic (As)-contaminated soil is difficult because As is very toxic for plants and micro-organisms. The aim of this study was to investigate soil arsenic removal effects using poplar in combination with the inoculation of a plant growth-promoting rhizobacterium (PGPR). A rhizobacterium D14 was isolated and identified within Agrobacterium radiobacter. This strain was highly resistant to arsenic and produced indole acetic acid and siderophore. Greenhouse pot bioremediation experiments were performed for 5 months using poplar (Populus deltoides LH05-17) grown on As-amended soils, inoculated with strain D14. The results showed that P. deltoides was an efficient arsenic accumulator; however, high As concentrations (150 and 300 mg kg(-1)) inhibited its growth. With the bacterial inoculation, in the 300 mg kg(-1) As-amended soils, 54% As in the soil was removed, which was higher than the uninoculated treatments (43%), and As concentrations in roots, stems and leaves were significantly increased by 229, 113 and 291%, respectively. In addition, the As translocation ratio [(stems + leaves)/roots = 0·8] was significantly higher than the uninoculated treatments (0·5). About 45% As was translocated from roots to the above-ground tissues. The plant height and dry weight of roots, stems and leaves were all enhanced; the contents of chlorophyll and soluble sugar, and the activities of superoxide dismutase and catalase were all increased; and the content of a toxic compound malondialdehyde was decreased. The results indicated that the inoculation of strain D14 could contribute to the increase in the As tolerance of P. deltoides, promotion of the growth, increase in the uptake efficiency and enhancement of As translocation. The use of P. deltoides in combination with the inoculation of strain D14 provides a potential application for efficient soil arsenic bioremediation. © 2011 The Authors. Journal of Applied Microbiology ©2011 The Society for Applied

Gas exchange, dry weights, and chlorophyll contents of Populus tremuloides seedlings grown from gamma-irradiated seeds

International Nuclear Information System (INIS)

Salmonson, B.J.; Zavitkovski, J.

1977-01-01

Photosynthesis and respiration rates of Populus tremuloides seedlings grown from seeds acutely irradiated with gamma rays (at levels of 0, 0.47, 0.94, 1.8, 3.7, 7.5, and 15 kr) were measured using a closed system and infrared (IR) gas analyzer. Dry weights of seedling roots and shoots and chlorophyll contents were also determined. In general, gamma irradiation of seed had little effect on subsequent gas-exchange processes in the plant. Net photosynthesis and dark respiration rates of the seedling at any radiation level were not significantly different from those of the control group. Pooled net photosynthesis of all irradiated seedlings was nonsignificantly lower than that of the control seedlings. The data suggested a slight stimulation in dry-matter production of shoots by low levels of gamma radiation. At the highest levels of radiation, shoot dry weight was significantly reduced. Root production displayed a pattern similar to that of shoots. No trends different from controls were evident in the shoot/root ratios. Total chlorophyll concentrations of the seedling increased over the controls by radiation treatment. Age and radiation effects were evident in the chlorophyll a/b ratios. The chlorophyll a/b ratios decreased with age in both the control and treatment groups. Although in seedlings 39 through 46 days old chlorophyll a/b ratios were higher in the control, chlorophyll a/b ratios were significantly higher in the treatment seedlings at 68 days. Changes in chlorophyll a were primarily responsible for this change

Correlating laser-induced breakdown spectroscopy with neutron activation analysis to determine the elemental concentration in the ionome of the Populus trichocarpa leaf

Science.gov (United States)

Martin, Madhavi Z.; Glasgow, David C.; Tschaplinski, Timothy J.; Tuskan, Gerald A.; Gunter, Lee E.; Engle, Nancy L.; Wymore, Ann M.; Weston, David J.

2017-12-01

The black cottonwood poplar (Populus trichocarpa) leaf ionome (inorganic trace elements and mineral nutrients) is an important aspect for determining the physiological and developmental processes contributing to biomass production. A number of techniques are used to measure the ionome, yet characterizing the leaf spatial heterogeneity remains a challenge, especially in solid samples. Laser-induced breakdown spectroscopy (LIBS) has been used to determine the elemental composition of leaves and is able to raster across solid matrixes at 10 μm resolution. Here, we evaluate the use of LIBS for solid sample leaf elemental characterization in relation to neutron activation. In fact, neutron activation analysis is a laboratory-based technique which is used by the National Institute of Standards and Technology (NIST) to certify trace elements in candidate reference materials including plant leaf matrices. Introduction to the techniques used in this research has been presented in this manuscript. Neutron activation analysis (NAA) data has been correlated to the LIBS spectra to achieve quantification of the elements or ions present within poplar leaves. The regression coefficients of calibration and validation using multivariate analysis (MVA) methodology for six out of seven elements have been determined and vary between 0.810 and 0.998. LIBS and NAA data has been presented for the elements such as, calcium, magnesium, manganese, aluminum, copper, and potassium. Chlorine was also detected but it did not show good correlation between the LIBS and NAA techniques. This research shows that LIBS can be used as a fast, high-spatial resolution technique to quantify elements as part of large-scale field phenotyping projects.

Production potential of 36 poplar clones grown at medium length rotation in Denmark

DEFF Research Database (Denmark)

Nielsen, Ulrik Brauner; Madsen, Palle; Hansen, Jon Kehlet

2014-01-01

years. The estimated mean annual increment of above ground biomass ranged from 1 to 9 Mg ha−1 yr−1 at age 13 years. A hybrid clone O.P. 42 (synonyms Hybrid 275, NE 42) Populus maximowiczii × trichocarpa, performed best, but also clones of the species Populus trichocarpa had a high biomass production....... In general the hybrids using P. maximowiczii as a parent were well performing. Lowest production had pure species Populus nigra and Populus deltoides as well as their hybrids. The choice of species hybrid combination had a very strong impact on biomass production, but less influence on quality and health......The importance of choosing suitable clones for production of timber and biomass has long been recognized. The aims of this study were to describe the genetic variation and production potential among 36 poplar clones grown in a rotation of 5–13 years and evaluate the different species and hybrid...

A novel loss-of-function heterozygous BRCA2 c.8946_8947delAG mutation found in a Chinese woman with family history of breast cancer.

Science.gov (United States)

Ma, Jing; Yang, Jichun; Jian, Wenjing; Wang, Xianming; Xiao, Deyong; Xia, Wenjun; Xiong, Likuan; Ma, Duan

2017-04-01

Breast cancer is the most frequent female malignancy worldwide. Among them, some cases have hereditary susceptibility in two leading genes, BRCA1 and BRCA2. Heterozygous germ line mutations in them are related with increased risk of breast, ovarian and other cancer, following autosomal dominant inheritance mode. For purpose of early finding, early diagnosis and early treatment, mutation detecting of BRCA1/2 genes was performed in unselected 300 breast or ovarian patients and unaffected women using next-generation sequencing and then confirmed by Sanger sequencing. A non-previously reported heterozygous mutation c.8946_8947delAG (p.D2983FfsX34) of BRCA2 gene was identified in an unaffected Chinese woman with family history of breast cancer (her breast cancer mother, also carrying this mutation). The BRCA2-truncated protein resulted from the frame shift mutation was found to lose two putative nuclear localization signals and a Rad51-binding motif in the extreme C-terminal region by bioinformatic prediction. And then in vitro experiments showed that nearly all the mutant protein was unable to translocate to the nucleus to perform DNA repair activity. This novel mutant BRCA2 protein is dysfunction. We classify the mutation into disease causing and conclude that it is the risk factor for breast cancer in this family. So, conducting the same mutation test and providing genetic counseling for this family is practically meaningful and significant. Meanwhile, the identification of this new mutation enriches the Breast Cancer Information Core database, especially in China.

Determination of Fe, Hg, Mn, and Pb in three-rings of poplar (Populus alba L.) by U-shaped DC arc

Science.gov (United States)

Marković, D. M.; Novović, I.; Vilotić, D.; Ignjatović, Lj.

2007-09-01

The U-shaped DC arc with aerosol supply was applied for the determination of Fe, Hg, Mn, and Pb in poplar (Populus alba L.) tree-rings. By optimization of the operating parameters and by selection of the most appropriate signal integration time (20 s for Fe, Mn, and Pb and 30 s for Hg), the obtained limits of detection for Fe, Hg, Mn, and Pb are 5.8, 2.6, 1.6, and 2.0 ng/ml, respectively. The detection limits achieved by this method for Fe, Hg, Mn, and Pb are comparable with the detection limits obtained for these elements by such methods as inductively coupled plasma-atomic emission spectrometry (ICP-AES), direct coupled plasmatomic emission spectrometry (DCP-AES), and microwave-induced plasma-atomic emission spectrometry (MIP-AES). We used the tree-rings of poplar from two different locations. The first one is in the area close to the power plant “Nikola Tesla” TENT A, Obrenovac, while the other one is in the urban area of Novi Sad. In almost all cases, samples from the location at Obrenovac registered elevated average concentrations of Fe, Hg, Mn, and Pb in the tree-rings of poplar.

A kinase-dead knock-in mutation in mTOR leads to early embryonic lethality and is dispensable for the immune system in heterozygous mice

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Cavender Druie

2009-05-01

Full Text Available Abstract Background The mammalian target of rapamycin protein (mTOR is an evolutionarily conserved kinase that regulates protein synthesis, cell cycle progression and proliferation in response to various environmental cues. As a critical downstream mediator of PI3K signaling, mTOR is important for lymphocyte development and function of mature T and B-cells. Most studies of mTOR in immune responses have relied on the use of pharmacological inhibitors, such as rapamycin. Rapamycin-FKBP12 complex exerts its immunosuppressive and anti-proliferative effect by binding outside the kinase domain of mTOR, and subsequently inhibiting downstream mTOR signaling. Results To determine the requirement for mTOR kinase activity in the immune system function, we generated knock-in mice carrying a mutation (D2338 in the catalytic domain of mTOR. While homozygous mTOR kd/kd embryos died before embryonic day 6.5, heterozygous mTOR+/kd mice appeared entirely normal and are fertile. mTOR +/kd mice exhibited normal T and B cell development and unaltered proliferative responses of splenocytes to IL-2 and TCR/CD28. In addition, heterozygousity for the mTOR kinase-dead allele did not sensitize T cells to rapamycin in a CD3-mediated proliferation assay. Unexpectedly, mTOR kinase activity towards its substrate 4E-BP1 was not decreased in hearts and livers from heterozygous animals. Conclusion Altogether, our findings indicate that mTOR kinase activity is indispensable for the early development of mouse embryos. Moreover, a single wild type mTOR allele is sufficient to maintain normal postnatal growth and lymphocyte development and proliferation.

Dicty_cDB: Contig-U13006-1 [Dicty_cDB

Lifescience Database Archive (English)

Full Text Available A-FP_182294 Lysiphlebus testaceipes adult whol... 34 3.0 2 ( BU896130 ) X036A07 Populus wood cDNA library Populus tremul...1.r GM_WBc Glycine max genomic clone ... 34 2.9 2 ( DN492755 ) X036A07.3pR Populus wood cDNA library Populus tre...... 34 2.9 2 ( DN502768 ) X036A07.5pR Populus wood cDNA library Populus tre... 34 2.9 2 ( EH014215 ) USD..... 34 2.4 2 ( EU795178 ) Uncultured bacterium HF0010_09O16 genomic sequence. 34 2.4 2 ( AC182691 ) Populus tric...itermes flavipes symbiont library ... 36 3.2 2 ( DQ927304 ) Tetrahymena paravorax strain RP m

Heterozygous Null Bone Morphogenetic Protein Receptor Type 2 Mutations Promote SRC Kinase-dependent Caveolar Trafficking Defects and Endothelial Dysfunction in Pulmonary Arterial Hypertension*

Science.gov (United States)

Prewitt, Allison R.; Ghose, Sampa; Frump, Andrea L.; Datta, Arumima; Austin, Eric D.; Kenworthy, Anne K.; de Caestecker, Mark P.

2015-01-01

Hereditary pulmonary arterial hypertension (HPAH) is a rare, fatal disease of the pulmonary vasculature. The majority of HPAH patients inherit mutations in the bone morphogenetic protein type 2 receptor gene (BMPR2), but how these promote pulmonary vascular disease is unclear. HPAH patients have features of pulmonary endothelial cell (PEC) dysfunction including increased vascular permeability and perivascular inflammation associated with decreased PEC barrier function. Recently, frameshift mutations in the caveolar structural protein gene Caveolin-1 (CAV-1) were identified in two patients with non-BMPR2-associated HPAH. Because caveolae regulate endothelial function and vascular permeability, we hypothesized that defects in caveolar function might be a common mechanism by which BMPR2 mutations promote pulmonary vascular disease. To explore this, we isolated PECs from mice carrying heterozygous null Bmpr2 mutations (Bmpr2+/−) similar to those found in the majority of HPAH patients. We show that Bmpr2+/− PECs have increased numbers and intracellular localization of caveolae and caveolar structural proteins CAV-1 and Cavin-1 and that these defects are reversed after blocking endocytosis with dynasore. SRC kinase is also constitutively activated in Bmpr2+/− PECs, and localization of CAV-1 to the plasma membrane is restored after treating Bmpr2+/− PECs with the SRC kinase inhibitor 3-(4-chlorophenyl)-1-(1,1-dimethylethyl)-1H-pyrazolo[3,4-d]pyrimidin-4-amine (PP2). Late outgrowth endothelial progenitor cells isolated from HPAH patients show similar increased activation of SRC kinase. Moreover, Bmpr2+/− PECs have impaired endothelial barrier function, and barrier function is restored after treatment with PP2. These data suggest that heterozygous null BMPR2 mutations promote SRC-dependent caveolar trafficking defects in PECs and that this may contribute to pulmonary endothelial barrier dysfunction in HPAH patients. PMID:25411245

Identification of five B-type response regulators as members of a multistep phosphorelay system interacting with histidine-containing phosphotransfer partners of Populus osmosensor

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Bertheau Lucie

2012-12-01

Full Text Available Abstract Background In plants, the multistep phosphorelay signaling pathway mediates responses to environmental factors and plant hormones. This system is composed of three successive partners: hybrid Histidine-aspartate Kinases (HKs, Histidine-containing Phosphotransfer proteins (HPts, and Response Regulators (RRs. Among the third partners, B-type RR family members are the final output elements of the pathway; they act as transcription factors and clearly play a pivotal role in the early response to cytokinin in Arabidopsis. While interactions studies between partners belonging to the multistep phosphorelay system are mainly focused on protagonists involved in cytokinin or ethylene pathways, very few reports are available concerning partners of osmotic stress signaling pathway. Results In Populus, we identified eight B-type RR proteins, RR12-16, 19, 21 and 22 in the Dorskamp genotype. To assess HPt/B-type RR interactions and consequently determine potential third partners in the osmosensing multistep phosphorelay system, we performed global yeast two-hybrid (Y2H assays in combination with Bimolecular Fluorescence Complementation (BiFC assays in plant cells. We found that all B-type RRs are able to interact with HPt predominant partners (HPt2, 7 and 9 of HK1, which is putatively involved in the osmosensing pathway. However, different profiles of interaction are observed depending on the studied HPt. HPt/RR interactions displayed a nuclear localization, while the nuclear and cytosolic localization of HPt and nuclear localization of RR proteins were validated. Although the nuclear localization of HPt/RR interaction was expected, this work constitutes the first evidence of such an interaction in plants. Furthermore, the pertinence of this partnership is reinforced by highlighting a co-expression of B-type RR transcripts and the other partners (HK1 and HPts belonging to a potential osmosensing pathway. Conclusion Based on the interaction studies

The impact of vessel size on vulnerability curves: data and models for within-species variability in saplings of aspen, Populus tremuloides Michx.

Science.gov (United States)

Cai, Jing; Tyree, Melvin T

2010-07-01

The objective of this study was to quantify the relationship between vulnerability to cavitation and vessel diameter within a species. We measured vulnerability curves (VCs: percentage loss hydraulic conductivity versus tension) in aspen stems and measured vessel-size distributions. Measurements were done on seed-grown, 4-month-old aspen (Populus tremuloides Michx) grown in a greenhouse. VCs of stem segments were measured using a centrifuge technique and by a staining technique that allowed a VC to be constructed based on vessel diameter size-classes (D). Vessel-based VCs were also fitted to Weibull cumulative distribution functions (CDF), which provided best-fit values of Weibull CDF constants (c and b) and P(50) = the tension causing 50% loss of hydraulic conductivity. We show that P(50) = 6.166D(-0.3134) (R(2) = 0.995) and that b and 1/c are both linear functions of D with R(2) > 0.95. The results are discussed in terms of models of VCs based on vessel D size-classes and in terms of concepts such as the 'pit area hypothesis' and vessel pathway redundancy.

Overexpression of PtrMYB119, a R2R3-MYB transcription factor from Populus trichocarpa, promotes anthocyanin production in hybrid poplar.

Science.gov (United States)

Cho, Jin-Seong; Nguyen, Van Phap; Jeon, Hyung-Woo; Kim, Min-Ha; Eom, Seok Hyun; Lim, You Jin; Kim, Won-Chan; Park, Eung-Jun; Choi, Young-Im; Ko, Jae-Heung

2016-09-01

Anthocyanins are a group of colorful and bioactive natural pigments with important physiological and ecological functions in plants. We found an MYB transcription factor (PtrMYB119) from Populus trichocarpa that positively regulates anthocyanin production when expressed under the control of the CaMV 35S promoter in transgenic Arabidopsis Amino acid sequence analysis revealed that PtrMYB119 is highly homologous to Arabidopsis PAP1 (PRODUCTION OF ANTHOCYANIN PIGMENT1), a well-known transcriptional activator of anthocyanin biosynthesis. Independently produced transgenic poplars overexpressing PtrMYB119 or PtrMYB120 (a paralogous gene to PtrMYB119) (i.e., 35S::PtrMYB119 and 35S::PtrMYB120, respectively) showed elevated accumulation of anthocyanins in the whole plants, including leaf, stem and even root tissues. Using a reverse-phase high-performance liquid chromatography, we confirmed that the majority of the accumulated anthocyanin in our transgenic poplar is cyanidin-3-O-glucoside. Gene expression analyses revealed that most of the genes involved in the anthocyanin biosynthetic pathway were highly upregulated in 35S::PtrMYB119 poplars compared with the nontransformed control poplar. Among these genes, expression of PtrCHS1 (Chalcone Synthase1) and PtrANS2 (Anthocyanin Synthase2), which catalyze the initial and last steps of anthocyanin biosynthesis, respectively, was upregulated by up to 350-fold. Subsequent transient activation assays confirmed that PtrMYB119 activated the transcription of both PtrCHS1 and PtrANS2 Interestingly, expression of MYB182, a repressor of both anthocyanin and proanthocyanidin (PA) biosynthesis, was largely suppressed in 35S::PtrMYB119 poplars, while expression of MYB134, an activator of PA biosynthesis, was not changed significantly. More interestingly, high-level accumulation of anthocyanins in 35S::PtrMYB119 poplars did not have an adverse effect on plant growth. Taken together, our results demonstrate that PtrMYB119 and PtrMYB120

Methylobacterium populi sp. nov., a novel aerobic, pink-pigmented, facultatively methylotrophic, methane-utilizing bacterium isolated from poplar trees (Populus deltoides x nigra DN34).

Science.gov (United States)

Van Aken, Benoit; Peres, Caroline M; Doty, Sharon Lafferty; Yoon, Jong Moon; Schnoor, Jerald L

2004-07-01

A pink-pigmented, aerobic, facultatively methylotrophic bacterium, strain BJ001T, was isolated from internal poplar tissues (Populus deltoidesxnigra DN34) and identified as a member of the genus Methylobacterium. Phylogenetic analyses showed that strain BJ001T is related to Methylobacterium thiocyanatum, Methylobacterium extorquens, Methylobacterium zatmanii and Methylobacterium rhodesianum. However, strain BJ001T differed from these species in its carbon-source utilization pattern, particularly its use of methane as the sole source of carbon and energy, an ability that is shared with only one other member of the genus, Methylobacterium organophilum. In addition, strain BJ001T is the only member of the genus Methylobacterium to be described as an endophyte of poplar trees. On the basis of its physiological, genotypic and ecological properties, the isolate is proposed as a member of a novel species of the genus Methylobacterium, Methylobacterium populi sp. nov. (type strain, BJ001T=ATCC BAA-705T=NCIMB 13946T).

Rooting of hybrid clones of Populus tremula L. x P. tremuloides Michx. by stem cuttings derived from micropropagated plants

Energy Technology Data Exchange (ETDEWEB)

Qibin Yu [Univ. of Helsinki (Finland). Dept. of Plant Biology; Maentylae, N. [Univ. of Turku (Finland). Dept. of Biology, Plant Physiology and Molecular Biology; Salonen, M. [Finnish Forest Research Inst., Laeyliaeinen (Finland). Haapastensyrjae Breeding Station

2001-07-01

Propagation costs could be cut by replacing part of the micropropagation process with steps involving more traditional techniques. This study explored possibilities for improving existing vegetative propagation techniques for aspen using stem cuttings obtained from micropropagated plants. Vegetative propagation through stem cuttings was studied in 10 micropropagated hybrid aspen clones (Populus tremula L. x P. tremuloides Michx). Cuttings containing one axillary bud were harvested from the same donor plants twice during the growing season: the first harvest in May and the second harvest in July. Rooting percentage was correlated positively with root length, number of roots and height of cutting plant but negatively with length of rooting. The average rooting percentage was 53% in the first harvest and 27% in second harvest. Indole-3-butyric acid treatments (1.2 mM) significantly improved rooting in the second harvest, but not in the first harvest, suggesting different endogenous auxin levels in the cuttings. A significant variation for most traits related to rooting ability was found among the clones, indicating that clonal effects play an important role in the propagation of aspen. Thus, clones with a good response in shoot growth and rooting could be exploited in large-scale propagation using stem cuttings.

Heterozygous ambra1 deficiency in mice: a genetic trait with autism-like behavior restricted to the female gender.

Science.gov (United States)

Dere, Ekrem; Dahm, Liane; Lu, Derek; Hammerschmidt, Kurt; Ju, Anes; Tantra, Martesa; Kästner, Anne; Chowdhury, Kamal; Ehrenreich, Hannelore

2014-01-01

Autism-spectrum disorders (ASD) are heterogeneous, highly heritable neurodevelopmental conditions affecting around 0.5% of the population across cultures, with a male/female ratio of approximately 4:1. Phenotypically, ASD are characterized by social interaction and communication deficits, restricted interests, repetitive behaviors, and reduced cognitive flexibility. Identified causes converge at the level of the synapse, ranging from mutation of synaptic genes to quantitative alterations in synaptic protein expression, e.g., through compromised transcriptional or translational control. We wondered whether reduced turnover and degradation of synapses, due to deregulated autophagy, would lead to similar phenotypical consequences. Ambra1, strongly expressed in cortex, hippocampus, and striatum, is a positive regulator of Beclin1, a principal player in autophagosome formation. While homozygosity of the Ambra1 null mutation causes embryonic lethality, heterozygous mice with reduced Ambra1 expression are viable, reproduce normally, and lack any immediately obvious phenotype. Surprisingly, comprehensive behavioral characterization of these mice revealed an autism-like phenotype in Ambra1 (+/-) females only, including compromised communication and social interactions, a tendency of enhanced stereotypies/repetitive behaviors, and impaired cognitive flexibility. Reduced ultrasound communication was found in adults as well as pups, which achieved otherwise normal neurodevelopmental milestones. These features were all absent in male Ambra1 (+/-) mice. As a first hint explaining this gender difference, we found a much stronger reduction of Ambra1 protein in the cortex of Ambra1 (+/-) females compared to males. To conclude, Ambra1 deficiency can induce an autism-like phenotype. The restriction to the female gender of autism-generation by a defined genetic trait is unique thus far and warrants further investigation.

Heterozygous Ambra1 deficiency in mice: A genetic trait with autism-like behavior restricted to the female gender

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Ekrem eDere

2014-05-01

Full Text Available Autism spectrum disorders (ASD are heterogeneous, highly heritable neurodevelopmental conditions affecting around 0.5% of the population across cultures, with a male/female ratio of ~4:1. Phenotypically, ASD are characterized by social interaction and communication deficits, restricted interests, repetitive behaviors, and reduced cognitive flexibility. Identified causes converge at the level of the synapse, ranging from mutation of synaptic genes to quantitative alterations in synaptic protein expression, e.g. through compromised transcriptional or translational control. We wondered whether reduced turnover and degradation of synapses, due to deregulated autophagy, would lead to similar phenotypical consequences. Ambra1, strongly expressed in cortex, hippocampus and striatum, is a positive regulator of Beclin1, a principal player in autophagosome formation. While homozygosity of the Ambra1 null mutation causes embryonic lethality, heterozygous mice with reduced Ambra1 expression are viable, reproduce normally, and lack any immediately obvious phenotype. Surprisingly, comprehensive behavioral characterization of these mice revealed an autism-like phenotype in Ambra1+/- females only, including compromised communication and social interactions, a tendency of enhanced stereotypies/repetitive behaviors, and impaired cognitive flexibility. Reduced ultrasound communication was found in adults as well as pups which achieved otherwise normal neurodevelopmental milestones. These features were all absent in male Ambra1+/- mice. As a first hint explaining this gender difference, we found a much stronger reduction of Ambra1 protein in the cortex of Ambra1+/- females compared to males. To conclude, Ambra1 deficiency can induce an autism-like phenotype. The restriction to the female gender of autism-generation by a defined genetic trait is unique thus far and warrants further investigation.

Nonhomologous Synapsis and Reduced Crossing over in a Heterozygous Paracentric Inversion in Saccharomyces Cerevisiae

Science.gov (United States)

Dresser, M. E.; Ewing, D. J.; Harwell, S. N.; Coody, D.; Conrad, M. N.

1994-01-01

Homologous chromosome synapsis (``homosynapsis'') and crossing over are well-conserved aspects of meiotic chromosome behavior. The long-standing assumption that these two processes are causally related has been challenged recently by observations in Saccharomyces cerevisiae of significant levels of crossing over (1) between small sequences at nonhomologous locations and (2) in mutants where synapsis is abnormal or absent. In order to avoid problems of local sequence effects and of mutation pleiotropy, we have perturbed synapsis by making a set of isogenic strains that are heterozygous and homozygous for a large chromosomal paracentric inversion covering a well marked genetic interval and then measured recombination. We find that reciprocal recombination in the marked interval in heterozygotes is reduced variably across the interval, on average to ~55% of that in the homozygotes, and that positive interference still modulates crossing over. Cytologically, stable synapsis across the interval is apparently heterologous rather than homologous, consistent with the interpretation that stable homosynapsis is required to initiate or consummate a large fraction of the crossing over observed in wild-type strains. When crossing over does occur in heterozygotes, dicentric and acentric chromosomes are formed and can be visualized and quantitated on blots though not demonstrated in viable spores. We find that there is no loss of dicentric chromosomes during the two meiotic divisions and that the acentric chromosome is recovered at only 1/3 to 1/2 of the expected level. PMID:7851761

Transcriptomic analysis reveals importance of ROS and phytohormones in response to short-term salinity stress in Populus tomentosa

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Lingyu eZheng

2015-09-01

Full Text Available Populus tomentosa (Chinese white poplar is well adapted to various extreme environments, and is considered an important species to study the effects of salinity stress on poplar trees. To decipher the mechanism of poplar’s rapid response to short-term salinity stress, we firstly detected the changes in H2O2 and hormone, and then profiled the gene expression pattern of ten-week-old seedling roots treated with 200 mM NaCl for 0, 6, 12 and 24 hours (h by RNA-seq on the Illumina-Solexa platform. Physiological determination showed that the significant increase in H2O2 began at 6 h, while that in hormone ABA was at 24 h, under salt stress. Compared with controls (0 h, 3991, 4603 and 4903 genes were up regulated, and 1408, 2206 and 3461 genes were down regulated (adjusted P-value ≤ 0.05 and |log2Ratio|≥1 at 6, 12, and 24 h time points, respectively. The Gene Ontology (GO and Kyoto Encyclopedia of Genes and Genomes (KEGG pathway annotation revealed that the differentially expressed genes (DEGs were highly enriched in hormone- and reactive oxygen species-related biological processes, including ‘response to oxidative stress or abiotic stimulus’, ‘peroxidase activity’, ‘regulation of transcription’, ‘hormone synthetic and metabolic process’, ‘hormone signal transduction’, ‘antioxidant activity’ and ‘transcription factor activity’. Moreover, K-means clustering demonstrated that DEGs (total RPKM value>12 from four time points could be categorized into four kinds of expression trends: quick up/down over 6 h or 12 h, and slow up/down over 24 h. Of these, DEGs involved in H2O2- and hormone- producing and signal-related genes were further enriched in this analysis, which indicated that the two kinds of small molecules, hormones and H2O2, play pivotal roles in the short-term salt stress response in poplar. This study provides a basis for future studies of the molecular adaptation of poplar and other tree species to salinity

Factors affecting fall down rates of dead aspen (Populus tremuloides) biomass following severe drought in west-central Canada.

Science.gov (United States)

Ted Hogg, Edward H; Michaelian, Michael

2015-05-01

Increases in mortality of trembling aspen (Populus tremuloides Michx.) have been recorded across large areas of western North America following recent periods of exceptionally severe drought. The resultant increase in standing, dead tree biomass represents a significant potential source of carbon emissions to the atmosphere, but the timing of emissions is partially driven by dead-wood dynamics which include the fall down and breakage of dead aspen stems. The rate at which dead trees fall to the ground also strongly influences the period over which forest dieback episodes can be detected by aerial surveys or satellite remote sensing observations. Over a 12-year period (2000-2012), we monitored the annual status of 1010 aspen trees that died during and following a severe regional drought within 25 study areas across west-central Canada. Observations of stem fall down and breakage (snapping) were used to estimate woody biomass transfer from standing to downed dead wood as a function of years since tree death. For the region as a whole, we estimated that >80% of standing dead aspen biomass had fallen after 10 years. Overall, the rate of fall down was minimal during the year following stem death, but thereafter fall rates followed a negative exponential equation with k = 0.20 per year. However, there was high between-site variation in the rate of fall down (k = 0.08-0.37 per year). The analysis showed that fall down rates were positively correlated with stand age, site windiness, and the incidence of decay fungi (Phellinus tremulae (Bond.) Bond. and Boris.) and wood-boring insects. These factors are thus likely to influence the rate of carbon emissions from dead trees following periods of climate-related forest die-off episodes. © 2014 Her Majesty the Queen in Right of Canada Global Change Biology © 2014 John Wiley & Sons Ltd Reproduced with the permission of the Minister of Natural Resources Canada.

Identification of proteins from cambium tissues of the chinese white poplar (populus tomentosa) sampled during the growing season

International Nuclear Information System (INIS)

Xie, J.; Liu, S.; Qi, Q.; Hou, Y.

2014-01-01

Various protein extraction methods have been used to investigate Chinese white poplar (Populus tomentosa) proteomics. However, extracting and characterizing proteins from woody plants remains a challenge. Two-dimensional gel electrophoresis is a powerful, widely used method for the analysis of complex protein mixtures extracted from biological samples. The technique separates mixtures of proteins along two dimensions, by isoelectric point and molecular weight, and can resolve thousands of different proteins. Here, we report a new application of two-dimensional gel electrophoresis to investigate the proteomics of P. tomentosa cambium tissues over the course of a growing season. Of three protein extraction methods that we compared (the Tris-phenol method, trichloroacetic acid-acetone method, and trichloroacetic acid-acetone-phenol method), trichloroacetic acid-acetone was the most efficient approach for protein extraction from cambium tissues of P. tomentosa. After extraction, the proteins were separated using two-dimensional gel electrophoresis. The protein quantities of six spots changed over the course of the growing season from February to July. Five spots were identified using matrix-assisted laser desorption/ionization time-of-flight/time-of-flight mass spectrometry, and the sixth spot was identified by liquid chromatography-mass spectrometry. The proteins included enolase, class Ia chitinase, and four unnamed proteins. Our results show the best approach to proteomics in P. tomentosa and reveal trends in protein activities during a growing season in this tree species. (author)

Growth, leaf traits and litter decomposition of roadside hybrid aspen (Populus tremula L. x P. tremuloides Michx.) clones

International Nuclear Information System (INIS)

Nikula, Suvi; Manninen, Sirkku; Vapaavuori, Elina; Pulkkinen, Pertti

2011-01-01

Road traffic contributes considerably to ground-level air pollution and is therefore likely to affect roadside ecosystems. Differences in growth and leaf traits among 13 hybrid aspen (Populus tremula x P. tremuloides) clones were studied in relation to distance from a motorway. The trees sampled were growing 15 and 30 m from a motorway and at a background rural site in southern Finland. Litter decomposition was also measured at both the roadside and rural sites. Height and diameter growth rate and specific leaf area were lowest, and epicuticular wax amount highest in trees growing 15 m from the motorway. Although no significant distance x clone interactions were detected, clone-based analyses indicated differences in genotypic responses to motorway proximity. Leaf N concentration did not differ with distance from the motorway for any of the clones. Leaf litter decomposition was only temporarily retarded in the roadside environment, suggesting minor effects on nutrient cycling. - Highlights: → Roadside hybrid aspen displayed xeromorphic leaf traits and reduction in growth rate. → These responses were limited to trees close to the motorway and only to some clones. → Leaf litter decomposition was only temporarily retarded in the roadside environment. - Hybrid aspen had more xeromorphic leaves, displayed reduced growth, and showed retarded litter decomposition at an early stage in the roadside environment.

Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome.

Science.gov (United States)

Ni, Christina; Zhang, Deming; Beyer, Lisa A; Halsey, Karin E; Fukui, Hideto; Raphael, Yehoash; Dolan, David F; Hornyak, Thomas J

2013-01-01

The human deafness-pigmentation syndromes, Waardenburg syndrome (WS) type 2a, and Tietz syndrome are characterized by profound deafness but only partial cutaneous pigmentary abnormalities. Both syndromes are caused by mutations in MITF. To illuminate differences between cutaneous and otic melanocytes in these syndromes, their development and survival in heterozygous Microphthalmia-White (Mitf(Mi-wh) /+) mice were studied and hearing function of these mice characterized. Mitf(Mi-wh) /+ mice have a profound hearing deficit, characterized by elevated auditory brainstem response thresholds, reduced distortion product otoacoustic emissions, absent endocochlear potential, loss of outer hair cells, and stria vascularis abnormalities. Mitf(Mi-wh) /+ embryos have fewer melanoblasts during embryonic development than their wild-type littermates. Although cochlear melanocytes are present at birth, they disappear from the Mitf(Mi-wh) /+ cochlea between P1 and P7. These findings may provide insight into the mechanism of melanocyte and hearing loss in human deafness-pigmentation syndromes such as WS and Tietz syndrome and illustrate differences between otic and follicular melanocytes. © 2012 John Wiley & Sons A/S.

Genetic variation of the riparian pioneer tree species populus nigra. II. Variation In susceptibility to the foliar rust melampsora larici-populina

Science.gov (United States)

Legionnet; Muranty; Lefevre

1999-04-01

Partial resistance of Populus nigra L. to three races of the foliar rust Melampsora larici-populina Kleb. was studied in a field trial and in laboratory tests, using a collection of P. nigra originating from different places throughout France. No total resistance was found. The partial resistance was split into epidemiological components, which proved to be under genetic control. Various patterns of association of epidemiological components values were found. Principal components analysis revealed their relationships. Only 24% of the variance of the field susceptibility could be explained by the variation of the epidemiological components of susceptibility. This variable was significantly correlated with susceptibility to the most ancient and widespread race of the pathogen, and with the variables related to the size of the lesions of the different races. Analysis of variance showed significant differences in susceptibility between regions and between stands within one region. Up to 20% of variation was between regions, and up to 22% between stands, so that these genetic factors appeared to be more differentiated than the neutral diversity (up to 3.5% Legionnet & Lefevre, 1996). However, no clear pattern of geographical distribution of diversity was detected.

Pregnancy-associated osteoporosis with a heterozygous deactivating LDL receptor-related protein 5 (LRP5) mutation and a homozygous methylenetetrahydrofolate reductase (MTHFR) polymorphism.

Science.gov (United States)

Cook, Fiona J; Mumm, Steven; Whyte, Michael P; Wenkert, Deborah

2014-04-01

Pregnancy-associated osteoporosis (PAO) is a rare, idiopathic disorder that usually presents with vertebral compression fractures (VCFs) within 6 months of a first pregnancy and delivery. Spontaneous improvement is typical. There is no known genetic basis for PAO. A 26-year-old primagravida with a neonatal history of unilateral blindness attributable to hyperplastic primary vitreous sustained postpartum VCFs consistent with PAO. Her low bone mineral density (BMD) seemed to respond to vitamin D and calcium therapy, with no fractures after her next successful pregnancy. Investigation of subsequent fetal losses revealed homozygosity for the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism associated both with fetal loss and with osteoporosis (OP). Because her neonatal unilateral blindness and OP were suggestive of loss-of-function mutation(s) in the gene that encodes LDL receptor-related protein 5 (LRP5), LRP5 exon and splice site sequencing was also performed. This revealed a unique heterozygous 12-bp deletion in exon 21 (c.4454_4465del, p.1485_1488del SSSS) in the patient, her mother and sons, but not her father or brother. Her mother had a normal BMD, no history of fractures, PAO, ophthalmopathy, or fetal loss. Her two sons had no ophthalmopathy and no skeletal issues. Her osteoporotic father (with a family history of blindness) and brother had low BMDs first documented at ages ∼40 and 32 years, respectively. Serum biochemical and bone turnover studies were unremarkable in all subjects. We postulate that our patient's heterozygous LRP5 mutation together with her homozygous MTHFR polymorphism likely predisposed her to low peak BMD. However, OP did not cosegregate in her family with the LRP5 mutation, the homozygous MTHFR polymorphism, or even the combination of the two, implicating additional genetic or nongenetic factors in her PAO. Nevertheless, exploration for potential genetic contributions to PAO may explain part of the pathogenesis of this

Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome.

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Yoo, Da Hye; Choi, Young-Chul; Nam, Da Eun; Choi, Sun Seong; Kim, Ji Won; Choi, Byung-Ok; Chung, Ki Wha

2017-07-01

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many parts of the body, particularly the brain and muscles. This study examined a Korean MELAS-like syndrome patient with seizure, stroke-like episode, and optic atrophy. Target sequencing of whole mtDNA and 73 nuclear genes identified compound heterozygous mutations p.R205X and p.L255P in the FASTKD2. Each of his unaffected parents has one of the two mutations, and both mutations were not found in 302 controls. FASTKD2 encodes a FAS-activated serine-threonine (FAST) kinase domain 2 which locates in the mitochondrial inner compartment. A FASTKD2 nonsense mutation was once reported as the cause of a recessive infantile mitochondrial encephalomyopathy. The present case showed relatively mild symptoms with a late onset age, compared to a previous patient with FASTKD2 mutation, implicating an inter-allelic clinical heterogeneity. Because this study is the second report of an autosomal recessive mitochondrial encephalomyopathy patient with a FASTKD2 mutation, it will extend the phenotypic spectrum of the FASTKD2 mutation. Copyright © 2017. Published by Elsevier B.V.

Clonal evolution following chemotherapy-induced stem cell depletion in cats heterozygous for glucose-6-phosphate dehydrogenase

International Nuclear Information System (INIS)

Abkowitz, J.L.; Ott, R.M.; Holly, R.D.; Adamson, J.W.

1988-01-01

The number of hematopoietic stem cells necessary to support normal hematopoiesis is not known but may be small. If so, the depletion or damage of such cells could result in apparent clonal dominance. To test this hypothesis, dimethylbusulfan [2 to 4 mg/kg intravenously (IV) x 3] was given to cats heterozygous for the X-linked enzyme glucose-6-phosphate dehydrogenase (G-6-PD). These cats were the daughters of domestic X Geoffroy parents. After the initial drug-induced cytopenias (2 to 4 weeks), peripheral blood counts and the numbers of marrow progenitors detected in culture remained normal, although the percentages of erythroid burst-forming cells (BFU-E) and granulocyte/macrophage colony-forming cells (CFU-GM) in DNA synthesis increased, as determined by the tritiated thymidine suicide technique. In three of six cats treated, a dominance of Geoffroy-type G-6-PD emerged among the progenitor cells, granulocytes, and RBCs. These skewed ratios of domestic to Geoffroy-type G-6-PD have persisted greater than 3 years. No changes in cell cycle kinetics or G-6-PD phenotypes were noted in similar studies in six control cats. These data suggest that clonal evolution may reflect the depletion or damage of normal stem cells and not only the preferential growth and dominance of neoplastic cells

Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings.

Science.gov (United States)

Mozzillo, Enza; Melis, Daniela; Falco, Mariateresa; Fattorusso, Valentina; Taurisano, Roberta; Flanagan, Sarah E; Ellard, Sian; Franzese, Adriana

2013-08-01

Thiamine responsive megaloblastic anemia (TRMA) is an autosomal recessive disease caused by loss of function mutations in the SLC19A2 gene. TRMA is characterized by anemia, deafness, and diabetes. In some cases, optic atrophy or more rarely retinitis pigmentosa is noted. We now report two sisters, the eldest of which presented to a different hospital during childhood with sensorineural deafness, which was treated with a hearing prosthesis, insulin requiring diabetes, retinitis pigmentosa, optic atrophy, and macrocytic anemia. These features initially suggested a clinical diagnosis of Wolfram syndrome (WS). Therapy with thiamine was initiated which resulted in the resolution of the anemia. The younger sister, who was affected with sensorineural deafness, was referred to our hospital for non-autoimmune diabetes. She was found to have macrocytosis and ocular abnormalities. Because a diagnosis of TRMA was suspected, therapy with insulin and thiamine was started. Sequencing analysis of the SLC19A2 gene identified a compound heterozygous mutation p.Y81X/p.L457X (c.242insA/c.1370delT) in both sisters. Non-autoimmune diabetes associated with deafness and macrocytosis, without anemia, suggests a diagnosis of TRMA. Patients clinically diagnosed with WS with anemia and/or macrocytosis should be reevaluated for TRMA. © 2012 John Wiley & Sons A/S.

Microcytic hypochromic anemia: Should high performance liquid chromatography be used routinely for screening anemic and antenatal patients?

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Joseph Philip

2013-01-01

Full Text Available Background: Hemoglobinopathies are the most common inherited red cell disorders worldwide. Identification of these disorders is immensely important epidemiologically and for improved management protocols. Aim and Objectives: Our aim was to determine the prevalence of hemoglobinopathies in patients with microcytic hypochromic anemia and to assess the suitability of using high performance liquid chromatography (HPLC routinely for screening antenatal cases and patients with anemia. Materials and Methods: A total of 4335 cases received from Mar 2007 to Nov 2011 were studied for various hemoglobinopathies and variants on BIO RAD ′VARIANT′ analyzer. Results: Of the 4335 cases studied, 2119 were antenatal cases, 1710 patients with other disorders and 506 family studies. Of these, 688 cases displayed abnormal hemoglobin fractions on HPLC of which 140 were antenatal women. There were 455 cases of β thalassemia trait, 24 β thalassemia major, 20 thalassemia inter-media, 54 sickle cell trait, fivesickle cell disease, 21 double heterozygous β thalassemia-sickle cell trait, nineand 4 Hb D- Punjab heterozygous and homozygous respectively, three Hb D β Thalassemia trait, 20 and 37 Hb E homozygous and heterozygous respectively, three Hb E β Thalassemia trait and four cases of Hb Q India. Twenty nine adults had isolated HbF elevation. Conclusion: Our study found a high prevalence (15.8% of hemoglobinopathies amongst microcytic hypochromic anemia and antenatal cases. An accurate diagnosis helps in preventing unnecessary iron loading. Screening all antenatal cases with anemia helps in timely antenatal counseling, thus preventing the psychological trauma of bearing a transfusion dependent child for life.

Production physiology and morphology of Populus species and their hybrids grown under short rotation. III. Seasonal carbon allocation patterns from branches

Energy Technology Data Exchange (ETDEWEB)

Scarascia-Mugnozza, G.E.; Hinckley, T.M.; Stettler, R.F. [Washington Univ., College of Forest Resources, Seattle, WA (United States)

1999-09-01

A study was carried out to compare highly productive cones, in the Pacific Northwest, in terms of contrasting growth and morphology. The objective of the study was to determine seasonal differences in carbon allocation patterns among 1- and 2-year old trees of Populus deltoides Bartr, and 2 of their interspecific hybrids. The study examined if there are different patterns of carbon allocation associated with the more productive poplar clones, how these patterns vary over the course of the growing season and from the first and the second year, if sylleptic branches vary from proleptic branches in their carbon allocation patterns, if there are the translocation patterns within branches and the degree of branch autonomy that exists with sylleptic and proleptic branches and if these patterns vary during the growing season. Previous findings on general patterns of carbon allocation in poplar clones were confirmed, and new dimensions were introduced regarding differences among branch types and clones. In the first year, carbon export from sylleptic branches increased over the growing season, and they export primarily toward the lower stem and roots. In the second year, important differences in translocation efficiency occurred among branch types with the sylleptic branches contributing more than proleptic branches, on a per unit mass basis, to the growth of the tree. Transport patterns, within branches and among branches of different order, were similar to those in the main stem, with phenology playing an important role in controlling the sink activity of the apical portion of the growing axis. Exchange of photosynthates between adjacent branches of the same order or between branches and main stem leaves are minimal, supporting an hypothesis of branch autonomy. 29 refs., 5 tabs., 4 figs.

Sapflow of hybrid poplar (Populus nigra L.xP. maximowiczii A. Henry 'NM6') during phytoremediation of landfill leachate

Energy Technology Data Exchange (ETDEWEB)

Zalesny, Ronald S.; Wiese, Adam H.; Bauer, Edmund O.; Riemenschneider, Don E. [USDA Forest Service, North Central Research Station, Forestry Sciences Laboratory, 5985 Highway K, Rhinelander, WI 54501 (United States)

2006-08-15

Poplars are ideal for phytoremediation because of their high water usage, fast growth, and deep root systems. We measured in 2002 and 2003 the sapflow of hybrid poplars (Populus nigra L.xP. maximowiczii A. Henry 'NM6') planted in 1999 for phytoremediation of a landfill in Rhinelander, WI, USA (45.6{sup o}N, 89.4{sup o}W). Mean sap velocity per tree was 100+/-10 and 120+/-10{mu}ms{sup -1} for 2002 and 2003, respectively. Mean sapflow per tree was 1.4000+/-0.1698 and 5.6760+/-0.2997kgh{sup -1} for 2002 and 2003, respectively. Sapflow was negatively correlated with temperature, wind speed, precipitation, and vapor pressure deficit for both years (0.002

Can the capacity for isoprene emission acclimate to environmental modifications during autumn senescence in temperate deciduous tree species Populus tremula?

Science.gov (United States)

Sun, Zhihong; Copolovici, Lucian; Niinemets, Ülo

2012-03-01

Changes in isoprene emission (Φ(isoprene)), and foliage photosynthetic (A) rates, isoprene precursor dimethylallyldiphosphate (DMADP), and nitrogen and carbon contents were studied from late summer to intensive leaf fall in Populus tremula to gain insight into the emission controls by temperature and endogenous, senescence-induced, modifications. Methanol emissions, characterizing degradation of cell wall pectins, were also measured. A rapid reduction in Φ(isoprene) and A of 60-70% of the initial value was observed in response to a rapid reduction of ambient temperature by ca. 15°C (cold stress). Later phases of senescence were associated with further reductions in Φ(isoprene) and A, with simultaneous major decrease in nitrogen content. However, during episodes of temperature increase, A and in particular, Φ(isoprene) partly recovered. Variation in Φ(isoprene) during senescence was correlated with average temperature of preceding days, with the highest degree of explained variance observed with average temperature of 6 days. Throughout the study, methanol emissions were small, but a large burst of methanol emission was associated with leaf yellowing and abscission. Overall, these data demonstrate that the capacity for isoprene emission can adjust to environmental conditions in senescing leaves as well, but the responsiveness is low compared with mid-season and is also affected by stress.

Effects of Simulated Nitrogen Deposition on Soil Respiration in a Populus euphratica Community in the Ebinur Lake Area, a Desert Ecosystem of Northwestern China.

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Xuemin He

Full Text Available One of the primary limiting factors for biological activities in desert ecosystems is nitrogen (N. This study therefore examined the effects of N and investigated the responses of an arid ecosystem to global change. We selected the typical desert plant Populus euphratica in a desert ecosystem in the Ebinur Lake area to evaluate the effects of N deposition on desert soil respiration. Three levels of N deposition (0, 37.5 and 112.5 kg·N·ha-1·yr-1 were randomly artificially provided to simulate natural N deposition. Changes in the soil respiration rates were measured from July to September in both 2010 and 2013, after N deposition in April 2010. The different levels of N deposition affected the total soil N, soil organic matter, soil C/N ratio, microorganism number, and microbial community structure and function. However, variable effects were observed over time in relation to changes in the magnitude of N deposition. Simulated high N deposition significantly reduced the soil respiration rate by approximately 23.6±2.5% (P<0.05, whereas low N deposition significantly increased the soil respiration rate by approximately 66.7±2.7% (P<0.05. These differences were clearer in the final growth stage (September. The different levels of N deposition had little effect on soil moisture, whereas N deposition significantly increased the soil temperature in the 0-5 cm layer (P<0.05. These results suggest that in the desert ecosystem of the Ebinur Lake area, N deposition indirectly changes the soil respiration rate by altering soil properties.

Linking the Salt Transcriptome with Physiological Responses of a Salt-Resistant Populus Species as a Strategy to Identify Genes Important for Stress Acclimation1[W][OA

Science.gov (United States)

Brinker, Monika; Brosché, Mikael; Vinocur, Basia; Abo-Ogiala, Atef; Fayyaz, Payam; Janz, Dennis; Ottow, Eric A.; Cullmann, Andreas D.; Saborowski, Joachim; Kangasjärvi, Jaakko; Altman, Arie; Polle, Andrea

2010-01-01

To investigate early salt acclimation mechanisms in a salt-tolerant poplar species (Populus euphratica), the kinetics of molecular, metabolic, and physiological changes during a 24-h salt exposure were measured. Three distinct phases of salt stress were identified by analyses of the osmotic pressure and the shoot water potential: dehydration, salt accumulation, and osmotic restoration associated with ionic stress. The duration and intensity of these phases differed between leaves and roots. Transcriptome analysis using P. euphratica-specific microarrays revealed clusters of coexpressed genes in these phases, with only 3% overlapping salt-responsive genes in leaves and roots. Acclimation of cellular metabolism to high salt concentrations involved remodeling of amino acid and protein biosynthesis and increased expression of molecular chaperones (dehydrins, osmotin). Leaves suffered initially from dehydration, which resulted in changes in transcript levels of mitochondrial and photosynthetic genes, indicating adjustment of energy metabolism. Initially, decreases in stress-related genes were found, whereas increases occurred only when leaves had restored the osmotic balance by salt accumulation. Comparative in silico analysis of the poplar stress regulon with Arabidopsis (Arabidopsis thaliana) orthologs was used as a strategy to reduce the number of candidate genes for functional analysis. Analysis of Arabidopsis knockout lines identified a lipocalin-like gene (AtTIL) and a gene encoding a protein with previously unknown functions (AtSIS) to play roles in salt tolerance. In conclusion, by dissecting the stress transcriptome of tolerant species, novel genes important for salt endurance can be identified. PMID:20959419

Dicty_cDB: Contig-U15849-1 [Dicty_cDB

Lifescience Database Archive (English)

Full Text Available s8-b09 She01 Saruma henryi cDNA clone sh... 44 6e-06 4 ( FL643435 ) TS24-B1 Reticulitermes flavipes symbiont library...m root (H) Panicum... 34 0.21 2 ( BU887392 ) R058G12 Populus root cDNA library Populus tremul...rium in... 44 0.41 2 ( ED537812 ) KBrB131C18F KBrB, Brassica rapa BamHI BAC library... 44 0.42 2 ( CJ458666 ) Macaca fascicul... Pop... 44 0.001 2 ( BU886436 ) R045D12 Populus root cDNA library Populus tremula... 44 0.001 2 ( CV131402 ) L2P05c10 Popul...us flower cDNA library Populus tric... 44 3e-10 4 ( DN774213 )