Sample records for genetically closely related

  1. Genetic basis of hybrid male sterility among three closely related species of Drosophila. (United States)

    Mishra, Paras Kumar; Singh, B N


    The genetic basis of hybrid male sterility among three closely related species, Drosophila bipectinata, D. parabipectinata and D. malerkotliana has been investigated by using backcross analysis methods. The role of Y chromosome, major hybrid sterility (MHS) genes (genetic factors) and cytoplasm (non-genetic factor) have been studied in the hybrids of these three species. In the species pair, bipectinata--parabipectinata, Y chromosome introgression of parabipectinata in the genomic background of bipectinata and the reciprocal Y chromosome introgression were unsuccessful as all males in second backcross generation were sterile. Neither MHS genes nor cytoplasm was found important for sterility. This suggests the involvement of X-Y, X-autosomes or polygenic interactions in hybrid male sterility. In bipectinata--malerkotliana and parabipectinata--malerkotliana species pairs, Y chromosome substitution in reciprocal crosses did not affect male fertility. Backcross analyses also show no involvement of MHS genes or cytoplasm in hybrid male sterility in these two species pairs. Therefore, X- autosome interaction or polygenic interaction is supposed to be involved in hybrid male sterility in these two species pairs. These findings also provide evidence that even in closely related species, genetic interactions underlying hybrid male sterility may vary.

  2. Increased genetic divergence between two closely related fir species in areas of range overlap (United States)

    Wang, Jing; Abbott, Richard J; Ingvarsson, Pär K; Liu, Jianquan


    Because of introgressive hybridization, closely related species can be more similar to each other in areas of range overlap (parapatry or sympatry) than in areas where they are geographically isolated from each other (allopatry). Here, we report the reverse situation based on nuclear genetic divergence between two fir species, Abies chensiensis and Abies fargesii, in China, at sites where they are parapatric relative to where they are allopatric. We examined genetic divergence across 126 amplified fragment length polymorphism (AFLP) markers in a set of 172 individuals sampled from both allopatric and parapatric populations of the two species. Our analyses demonstrated that AFLP divergence was much greater between the species when comparisons were made between parapatric populations than between allopatric populations. We suggest that selection in parapatry may have largely contributed to this increased divergence. PMID:24772279


    Directory of Open Access Journals (Sweden)

    Cristian Mihai Enescu


    Full Text Available The aim of this study was to test the Bayesian algorithm implemented in the software STRUCTURE in order to detect the number of clusters, by using microsatellite data from four oak species. Several assignment models, with or without a priori grouping of individuals to species, were proposed. Better results were obtained by using the sampling location information and when only two taxa were analyzed. Particularly, pedunculate oak and sessile oak formed distinct clusters whatever the assignment model we use. By contrast, no separation between the two oaks from series Lanuginosae was observed. This can be explained, on one hand, by the small sampling size for Italian oak, or by the genetic similarities of the two pubescent oaks, namely Quercus pubescens and Q. virgiliana, on the other hand. Our findings support the hypothesis according which Italian oak is an intraspecific taxonomic unit of pubescent oak.

  4. Using SNPs with varying specificity to quantify hybridization between closely related but genetically distinct moth populations in the wild (United States)

    Invasive insect species can potentially hybridize with closely related native populations to produce new phenotypes with deleterious economic and environmental consequences. Monitoring such events is often problematic because populations that can interbreed are typically sufficiently similar that it...

  5. Genetic rescue of an endangered domestic animal through outcrossing with closely related breeds: A case study of the Norwegian Lundehund.

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    Astrid V Stronen

    Full Text Available Genetic rescue, outcrossing with individuals from a related population, is used to augment genetic diversity in populations threatened by severe inbreeding and extinction. The endangered Norwegian Lundehund dog underwent at least two severe bottlenecks in the 1940s and 1960s that each left only five inbred dogs, and the approximately 1500 dogs remaining world-wide today appear to descend from only two individuals. The Lundehund has a high prevalence of a gastrointestinal disease, to which all remaining dogs may be predisposed. Outcrossing is currently performed with three Nordic Spitz breeds: Norwegian Buhund, Icelandic Sheepdog, and Norrbottenspets. Examination of single nucleotide polymorphism (SNP genotypes based on 165K loci in 48 dogs from the four breeds revealed substantially lower genetic diversity for the Lundehund (HE 0.035 than for other breeds (HE 0.209-0.284. Analyses of genetic structure with > 15K linkage disequilibrium-pruned SNPs showed four distinct genetic clusters. Pairwise FST values between Lundehund and the candidate breeds were highest for Icelandic Sheepdog, followed by Buhund and Norrbottenspets. We assessed the presence of outlier loci among candidate breeds and examined flanking genome regions (1 megabase for genes under possible selection to identify potential adaptive differences among breeds; outliers were observed in flanking regions of genes associated with key functions including the immune system, metabolism, cognition and physical development. We suggest crossbreeding with multiple breeds as the best strategy to increase genetic diversity for the Lundehund and to reduce the incidence of health problems. For this project, the three candidate breeds were first selected based on phenotypes and then subjected to genetic investigation. Because phenotypes are often paramount for domestic breed owners, such a strategy could provide a helpful approach for genetic rescue and restoration of other domestic populations at

  6. Genetically modified yeast of the species Issatchenkia orientalis and closely relates species, and fermentation processes using same (United States)

    Suominen, Pirkko [Maple Grove, MN; Aristidou, Aristos [Highland Ranch, CO; Pentilla, Merja [Helsinki, FI; Ilmen, Marja [Helsinki, FI; Ruohonen, Laura [Helsinki, FI; Koivuranta, Kari [Vantaa, FI; Roberg-Perez, Kevin [Minneapolis, MN


    Cells of the species Issatchenkia orientalis and closely related yeast species are transformed with a vector to introduce an exogenous lactate dehydrogenase gene. The cells produce lactic acid efficiently and are resistant at low pH, high lactate titer conditions.

  7. Are sympatrically speciating Midas cichlid fish special? Patterns of morphological and genetic variation in the closely related species Archocentrus centrarchus. (United States)

    Fruciano, Carmelo; Franchini, Paolo; Raffini, Francesca; Fan, Shaohua; Meyer, Axel


    Established empirical cases of sympatric speciation are scarce, although there is an increasing consensus that sympatric speciation might be more common than previously thought. Midas cichlid fish are one of the few substantiated cases of sympatric speciation, and they formed repeated radiations in crater lakes. In contrast, in the same environment, such radiation patterns have not been observed in other species of cichlids and other families of fish. We analyze morphological and genetic variation in a cichlid species (Archocentrus centrarchus) that co-inhabits several crater lakes with the Midas species complex. In particular, we analyze variation in body and pharyngeal jaw shape (two ecologically important traits in sympatrically divergent Midas cichlids) and relate that to genetic variation in mitochondrial control region and microsatellites. Using these four datasets, we analyze variation between and within two Nicaraguan lakes: a crater lake where multiple Midas cichlids have been described and a lake where the source population lives. We do not observe any within-lake clustering consistent across morphological traits and genetic markers, suggesting the absence of sympatric divergence in A. centrarchus. Genetic differentiation between lakes was low and morphological divergence absent. Such morphological similarity between lakes is found not only in average morphology, but also when analyzing covariation between traits and degree of morphospace occupation. A combined analysis of the mitochondrial control region in A. centrarchus and Midas cichlids suggests that a difference between lineages in the timing of crater lake colonization cannot be invoked as an explanation for the difference in their levels of diversification. In light of our results, A. centrarchus represents the ideal candidate to study the genomic differences between these two lineages that might explain why some lineages are more likely to speciate and diverge in sympatry than others.

  8. Exploiting fine-scale genetic and physiological variation of closely related microbes to reveal unknown enzyme functions. (United States)

    Badur, Ahmet H; Plutz, Matthew J; Yalamanchili, Geethika; Jagtap, Sujit Sadashiv; Schweder, Thomas; Unfried, Frank; Markert, Stephanie; Polz, Martin F; Hehemann, Jan-Hendrik; Rao, Christopher V


    Polysaccharide degradation by marine microbes represents one of the largest and most rapid heterotrophic transformations of organic matter in the environment. Microbes employ systems of complementary carbohydrate-specific enzymes to deconstruct algal or plant polysaccharides (glycans) into monosaccharides. Because of the high diversity of glycan substrates, the functions of these enzymes are often difficult to establish. One solution to this problem may lie within naturally occurring microdiversity; varying numbers of enzymes, due to gene loss, duplication, or transfer, among closely related environmental microbes create metabolic differences akin to those generated by knock-out strains engineered in the laboratory used to establish the functions of unknown genes. Inspired by this natural fine-scale microbial diversity, we show here that it can be used to develop hypotheses guiding biochemical experiments for establishing the role of these enzymes in nature. In this work, we investigated alginate degradation among closely related strains of the marine bacterium Vibrio splendidus One strain, V. splendidus 13B01, exhibited high extracellular alginate lyase activity compared with other V. splendidus strains. To identify the enzymes responsible for this high extracellular activity, we compared V. splendidus 13B01 with the previously characterized V. splendidus 12B01, which has low extracellular activity and lacks two alginate lyase genes present in V. splendidus 13B01. Using a combination of genomics, proteomics, biochemical, and functional screening, we identified a polysaccharide lyase family 7 enzyme that is unique to V. splendidus 13B01, secreted, and responsible for the rapid digestion of extracellular alginate. These results demonstrate the value of querying the enzymatic repertoires of closely related microbes to rapidly pinpoint key proteins with beneficial functions. © 2017 by The American Society for Biochemistry and Molecular Biology, Inc.

  9. The Human Salivary Microbiome Is Shaped by Shared Environment Rather than Genetics: Evidence from a Large Family of Closely Related Individuals. (United States)

    Shaw, Liam; Ribeiro, Andre L R; Levine, Adam P; Pontikos, Nikolas; Balloux, Francois; Segal, Anthony W; Roberts, Adam P; Smith, Andrew M


    The human microbiome is affected by multiple factors, including the environment and host genetics. In this study, we analyzed the salivary microbiomes of an extended family of Ashkenazi Jewish individuals living in several cities and investigated associations with both shared household and host genetic similarities. We found that environmental effects dominated over genetic effects. While there was weak evidence of geographical structuring at the level of cities, we observed a large and significant effect of shared household on microbiome composition, supporting the role of the immediate shared environment in dictating the presence or absence of taxa. This effect was also seen when including adults who had grown up in the same household but moved out prior to the time of sampling, suggesting that the establishment of the salivary microbiome earlier in life may affect its long-term composition. We found weak associations between host genetic relatedness and microbiome dissimilarity when using family pedigrees as proxies for genetic similarity. However, this association disappeared when using more-accurate measures of kinship based on genome-wide genetic markers, indicating that the environment rather than host genetics is the dominant factor affecting the composition of the salivary microbiome in closely related individuals. Our results support the concept that there is a consistent core microbiome conserved across global scales but that small-scale effects due to a shared living environment significantly affect microbial community composition. IMPORTANCE Previous research shows that the salivary microbiomes of relatives are more similar than those of nonrelatives, but it remains difficult to distinguish the effects of relatedness and shared household environment. Furthermore, pedigree measures may not accurately measure host genetic similarity. In this study, we include genetic relatedness based on genome-wide single nucleotide polymorphisms (SNPs) (rather than

  10. The genomes of closely related Pantoea ananatis maize seed endophytes having different effects on the host plant differ in secretion system genes and mobile genetic elements

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    Raheleh eSheibani-Tezerji


    Full Text Available The seed as a habitat for microorganisms is as yet under-explored and has quite distinct characteristics as compared to other vegetative plant tissues. In this study, we investigated three closely related P. ananatis strains (named S6, S7 and S8, which were isolated from maize seeds of healthy plants. Plant inoculation experiments revealed that each of these strains exhibited a different phenotype ranging from weak pathogenic (S7, commensal (S8, to a beneficial, growth-promoting effect (S6 in maize. We performed a comparative genomics analysis in order to find genetic determinants responsible for the differences observed. Recent studies provided exciting insight into the genetic drivers of niche adaption and functional diversification of the genus Pantoea. However, we report here for the first time on the analysis of P. ananatis strains colonizing the same ecological niche but showing distinct interaction strategies with the host plant. Our comparative analysis revealed that genomes of these three strains are highly similar. However, genomic differences in genes encoding protein secretion systems and putative effectors, and transposase/integrases/phage related genes could be observed.

  11. Imported parakeets harbor H9N2 influenza A viruses that are genetically closely related to those transmitted to humans in Hong Kong. (United States)

    Mase, M; Imada, T; Sanada, Y; Etoh, M; Sanada, N; Tsukamoto, K; Kawaoka, Y; Yamaguchi, S


    In 1997 and 1998, H9N2 influenza A viruses were isolated from the respiratory organs of Indian ring-necked parakeets (Psittacula Krameri manillensis) that had been imported from Pakistan to Japan. The two isolates were closely related to each other (>99% as determined by nucleotide analysis of eight RNA segments), indicating that H9N2 viruses of the same lineage were maintained in these birds for at least 1 year. The hemagglutinins and neuraminidases of both isolates showed >97% nucleotide identity with those of H9N2 viruses isolated from humans in Hong Kong in 1999, while the six genes encoding internal proteins were >99% identical to the corresponding genes of H5N1 viruses recovered during the 1997 outbreak in Hong Kong. These results suggest that the H9N2 parakeet viruses originating in Pakistan share an immediate ancestor with the H9N2 human viruses. Thus, influenza A viruses with the potential to be transmitted directly to humans may be circulating in captive birds worldwide.

  12. Genetics of migraine and related syndromes

    NARCIS (Netherlands)

    Stam, Anine Henrike


    In this dissertation clinical genetic investigations on migraine, related syndromes and comorbid conditions are described. The first migraine syndrome studied is Familial Hemiplegic Migraine (FHM), a monogenic migraine variant. The clinical spectrum of FHM1-3 and the relation with closely related

  13. Genetics in Relation to Biology. (United States)

    Stewart, J. Bird


    Claims that most instruction dealing with genetics is limited to sex education and personal hygiene. Suggests that the biology curriculum should begin to deal with other issues related to genetics, including genetic normality, prenatal diagnoses, race, and intelligence. Predicts these topics will begin to appear in British examination programs.…

  14. Pooling ASR data for closely related languages

    CSIR Research Space (South Africa)

    Van Heerden, C


    Full Text Available We describe several experiments that were conducted to assess the viability of data pooling as a means to improve speech-recognition performance for under-resourced languages. Two groups of closely related languages from the Southern Bantu language...

  15. Use of Wild Relatives and Closely Related Species to Adapt Common Bean to Climate Change

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    James D. Kelly


    Full Text Available Common bean (Phaseolus vulgaris L. is an important legume crop worldwide. However, abiotic and biotic stress limits bean yields to <600 kg ha−1 in low-income countries. Current low yields result in food insecurity, while demands for increased yields to match the rate of population growth combined with the threat of climate change are significant. Novel and significant advances in genetic improvement using untapped genetic diversity available in crop wild relatives and closely related species must be further explored. A meeting was organized by the Global Crop Diversity Trust to consider strategies for common bean improvement. This review resulted from that meeting and considers our current understanding of the genetic resources available for common bean improvement and the progress that has been achieved thus far through introgression of genetic diversity from wild relatives of common bean, and from closely related species, including: P. acutifolius, P. coccineus, P. costaricensis and P. dumosus. Newly developed genomic tools and their potential applications are presented. A broad outline of research for use of these genetic resources for common bean improvement in a ten-year multi-disciplinary effort is presented.

  16. Detecting Horizontal Gene Transfer between Closely Related Taxa.

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    Orit Adato


    Full Text Available Horizontal gene transfer (HGT, the transfer of genetic material between organisms, is crucial for genetic innovation and the evolution of genome architecture. Existing HGT detection algorithms rely on a strong phylogenetic signal distinguishing the transferred sequence from ancestral (vertically derived genes in its recipient genome. Detecting HGT between closely related species or strains is challenging, as the phylogenetic signal is usually weak and the nucleotide composition is normally nearly identical. Nevertheless, there is a great importance in detecting HGT between congeneric species or strains, especially in clinical microbiology, where understanding the emergence of new virulent and drug-resistant strains is crucial, and often time-sensitive. We developed a novel, self-contained technique named Near HGT, based on the synteny index, to measure the divergence of a gene from its native genomic environment and used it to identify candidate HGT events between closely related strains. The method confirms candidate transferred genes based on the constant relative mutability (CRM. Using CRM, the algorithm assigns a confidence score based on "unusual" sequence divergence. A gene exhibiting exceptional deviations according to both synteny and mutability criteria, is considered a validated HGT product. We first employed the technique to a set of three E. coli strains and detected several highly probable horizontally acquired genes. We then compared the method to existing HGT detection tools using a larger strain data set. When combined with additional approaches our new algorithm provides richer picture and brings us closer to the goal of detecting all newly acquired genes in a particular strain.

  17. Closed-Loop Surface Related Multiple Estimation

    NARCIS (Netherlands)

    Lopez Angarita, G.A.


    Surface-related multiple elimination (SRME) is one of the most commonly used methods for suppressing surface multiples. However, in order to obtain an accurate surface multiple estimation, dense source and receiver sampling is required. The traditional approach to this problem is performing data

  18. Transcriptome-based differentiation of closely-related Miscanthus lines.

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    Philippe Chouvarine

    Full Text Available BACKGROUND: Distinguishing between individuals is critical to those conducting animal/plant breeding, food safety/quality research, diagnostic and clinical testing, and evolutionary biology studies. Classical genetic identification studies are based on marker polymorphisms, but polymorphism-based techniques are time and labor intensive and often cannot distinguish between closely related individuals. Illumina sequencing technologies provide the detailed sequence data required for rapid and efficient differentiation of related species, lines/cultivars, and individuals in a cost-effective manner. Here we describe the use of Illumina high-throughput exome sequencing, coupled with SNP mapping, as a rapid means of distinguishing between related cultivars of the lignocellulosic bioenergy crop giant miscanthus (Miscanthus × giganteus. We provide the first exome sequence database for Miscanthus species complete with Gene Ontology (GO functional annotations. RESULTS: A SNP comparative analysis of rhizome-derived cDNA sequences was successfully utilized to distinguish three Miscanthus × giganteus cultivars from each other and from other Miscanthus species. Moreover, the resulting phylogenetic tree generated from SNP frequency data parallels the known breeding history of the plants examined. Some of the giant miscanthus plants exhibit considerable sequence divergence. CONCLUSIONS: Here we describe an analysis of Miscanthus in which high-throughput exome sequencing was utilized to differentiate between closely related genotypes despite the current lack of a reference genome sequence. We functionally annotated the exome sequences and provide resources to support Miscanthus systems biology. In addition, we demonstrate the use of the commercial high-performance cloud computing to do computational GO annotation.

  19. 12 CFR 225.123 - Activities closely related to banking. (United States)


    ... 12 Banks and Banking 3 2010-01-01 2010-01-01 false Activities closely related to banking. 225.123 Section 225.123 Banks and Banking FEDERAL RESERVE SYSTEM (CONTINUED) BOARD OF GOVERNORS OF THE FEDERAL... Holding Companies Interpretations § 225.123 Activities closely related to banking. (a) Effective June 15...

  20. 12 CFR 225.131 - Activities closely related to banking. (United States)


    ...; operation and management of a trust department; international banking; foreign exchange transactions... specialized lending provisions; marketing operations, including research, market development and advertising... Holding Companies Interpretations § 225.131 Activities closely related to banking. (a) Bank management...

  1. Identifying genetic relatives without compromising privacy. (United States)

    He, Dan; Furlotte, Nicholas A; Hormozdiari, Farhad; Joo, Jong Wha J; Wadia, Akshay; Ostrovsky, Rafail; Sahai, Amit; Eskin, Eleazar


    The development of high-throughput genomic technologies has impacted many areas of genetic research. While many applications of these technologies focus on the discovery of genes involved in disease from population samples, applications of genomic technologies to an individual's genome or personal genomics have recently gained much interest. One such application is the identification of relatives from genetic data. In this application, genetic information from a set of individuals is collected in a database, and each pair of individuals is compared in order to identify genetic relatives. An inherent issue that arises in the identification of relatives is privacy. In this article, we propose a method for identifying genetic relatives without compromising privacy by taking advantage of novel cryptographic techniques customized for secure and private comparison of genetic information. We demonstrate the utility of these techniques by allowing a pair of individuals to discover whether or not they are related without compromising their genetic information or revealing it to a third party. The idea is that individuals only share enough special-purpose cryptographically protected information with each other to identify whether or not they are relatives, but not enough to expose any information about their genomes. We show in HapMap and 1000 Genomes data that our method can recover first- and second-order genetic relationships and, through simulations, show that our method can identify relationships as distant as third cousins while preserving privacy.

  2. Non-coding changes cause sex-specific wing size differences between closely related species of Nasonia

    NARCIS (Netherlands)

    Loehlin, David W.; Oliveira, Deodoro C. S. G.; Edwards, Rachel; Giebel, Jonathan D.; Clark, Michael E.; Cattani, M. Victoria; van de Zande, Louis; Verhulst, Eveline C.; Beukeboom, Leo W.; Munoz-Torres, Monica; Werren, John H.

    The genetic basis of morphological differences among species is still poorly understood. We investigated the genetic basis of sex-specific differences in wing size between two closely related species of Nasonia by positional cloning a major male-specific locus, wing-size1 (ws1). Male wing size

  3. 29 CFR 541.703 - Directly and closely related. (United States)


    ... transit, is performing exempt work. If the employee also spends part of the day taking telephone orders... employee's exempt work cannot be performed properly. Work “directly and closely related” to the performance... related to exempt work: (1) Keeping time, production or sales records for subordinates is work directly...

  4. Close pairs of relative equilibria for identical point vortices

    DEFF Research Database (Denmark)

    Dirksen, Tobias; Aref, Hassan


    Numerical solution of the classical problem of relative equilibria for identical point vortices on the unbounded plane reveals configurations that are very close to the analytically known, centered, symmetrically arranged, nested equilateral triangles. New numerical solutions of this kind are fou...

  5. Mutual intelligibility between closely related language in Europe.

    NARCIS (Netherlands)

    Gooskens, Charlotte; van Heuven, Vincent; Golubovic, Jelena; Schüppert, Anja; Swarte, Femke; Voigt, Stefanie


    By means of a large-scale web-based investigation, we established the degree of mutual intelligibility of 16 closely related spoken languages within the Germanic, Slavic and Romance language families in Europe. We first present the results of a selection of 1833 listeners representing the mutual

  6. Mutual intelligibility between closely related languages in Europe

    NARCIS (Netherlands)

    Gooskens, C.; Heuven, van V.J.J.P.; Golubović, J.; Schüppert, A.; Swarte, F.; Voigt, S.


    By means of a large-scale web-based investigation, we established the degree of mutual intelligibility of 16 closely related spoken languages within the Germanic, Slavic and Romance language families in Europe. We first present the results of a selection of 1833 listeners representing the mutual

  7. 12 CFR 225.129 - Activities closely related to banking. (United States)


    ... competitive advantage over firms competing with other holding company affiliates. To reduce the possibility... Board's amendment of § 225.4(a), which adds courier services to the list of closely related activities... generally in the provision of transportation services. During the course of the Board's proceedings...

  8. Evidence for nonallopatric speciation among closely related sympatric Heliotropium species in the Atacama Desert. (United States)

    Luebert, Federico; Jacobs, Pit; Hilger, Hartmut H; Muller, Ludo A H


    The genetic structure of populations of closely related, sympatric species may hold the signature of the geographical mode of the speciation process. In fully allopatric speciation, it is expected that genetic differentiation between species is homogeneously distributed across the genome. In nonallopatric speciation, the genomes may remain undifferentiated to a large extent. In this article, we analyzed the genetic structure of five sympatric species from the plant genus Heliotropium in the Atacama Desert. We used amplified fragment length polymorphisms (AFLPs) to characterize the genetic structure of these species and evaluate their genetic differentiation as well as the number of loci subject to positive selection using divergence outlier analysis (DOA). The five species form distinguishable groups in the genetic space, with zones of overlap, indicating that they are possibly not completely isolated. Among-species differentiation accounts for 35% of the total genetic differentiation (F ST = 0.35), and F ST between species pairs is positively correlated with phylogenetic distance. DOA suggests that few loci are subject to positive selection, which is in line with a scenario of nonallopatric speciation. These results support the idea that sympatric species of Heliotropium sect. Cochranea are under an ongoing speciation process, characterized by a fluctuation of population ranges in response to pulses of arid and humid periods during Quaternary times.

  9. Genetic Evidence for Modifying Oceanic Boundaries Relative to Fiji. (United States)

    Shipley, Gerhard P; Taylor, Diana A; N'Yeurt, Antoine D R; Tyagi, Anand; Tiwari, Geetanjali; Redd, Alan J


    We present the most comprehensive genetic characterization to date of five Fijian island populations: Viti Levu, Vanua Levu, Kadavu, the Lau Islands, and Rotuma, including nonrecombinant Y (NRY) chromosome and mitochondrial DNA (mtDNA) haplotypes and haplogroups. As a whole, Fijians are genetically intermediate between Melanesians and Polynesians, but the individual Fijian island populations exhibit significant genetic structure reflecting different settlement experiences in which the Rotumans and the Lau Islanders were more influenced by Polynesians, and the other Fijian island populations were more influenced by Melanesians. In particular, Rotuman and Lau Islander NRY chromosomal and mtDNA haplogroup frequencies and Rotuman mtDNA hypervariable segment 1 region haplotypes more closely resemble those of Polynesians, while genetic markers of the other populations more closely resemble those of the Near Oceanic Melanesians. Our findings provide genetic evidence supportive of modifying regional boundaries relative to Fiji, as has been suggested by others based on a variety of nongenetic evidence. Specifically, for the traditional Melanesia/Polynesia/Micronesia scheme, our findings support moving the Melanesia-Polynesia boundary to include Rotuma and the Lau Islands in Polynesia. For the newer Near/Remote Oceania scheme, our findings support keeping Rotuma and the Lau Islands in Remote Oceania and locating the other Fijian island populations in an intermediate or "Central Oceania" region to better reflect the great diversity of Oceania.

  10. Closed-form summations of Dowker's and related trigonometric sums

    International Nuclear Information System (INIS)

    Cvijović, Djurdje; Srivastava, H M


    Through a unified and relatively simple approach which uses complex contour integrals, particularly convenient integration contours and calculus of residues, closed-form summation formulas for 12 very general families of trigonometric sums are deduced. One of them is a family of cosecant sums which was first summed in closed form in a series of papers by Dowker (1987 Phys. Rev. D 36 3095–101; 1989 J. Math. Phys. 30 770–3; 1992 J. Phys. A: Math. Gen. 25 2641–8), whose method has inspired our work in this area. All of the formulas derived here involve the higher-order Bernoulli polynomials. This article is part of a special issue of Journal of Physics A: Mathematical and Theoretical in honour of Stuart Dowker's 75th birthday devoted to ‘Applications of zeta functions and other spectral functions in mathematics and physics’. (paper)

  11. Closed-form summations of Dowker's and related trigonometric sums (United States)

    Cvijović, Djurdje; Srivastava, H. M.


    Through a unified and relatively simple approach which uses complex contour integrals, particularly convenient integration contours and calculus of residues, closed-form summation formulas for 12 very general families of trigonometric sums are deduced. One of them is a family of cosecant sums which was first summed in closed form in a series of papers by Dowker (1987 Phys. Rev. D 36 3095-101 1989 J. Math. Phys. 30 770-3 1992 J. Phys. A: Math. Gen. 25 2641-8), whose method has inspired our work in this area. All of the formulas derived here involve the higher-order Bernoulli polynomials. This article is part of a special issue of Journal of Physics A: Mathematical and Theoretical in honour of Stuart Dowker's 75th birthday devoted to ‘Applications of zeta functions and other spectral functions in mathematics and physics’.

  12. Genetic influences on alcohol-related hangover. (United States)

    Slutske, Wendy S; Piasecki, Thomas M; Nathanson, Lisa; Statham, Dixie J; Martin, Nicholas G


    To quantify the relative contributions of genetic and environmental factors to alcohol hangover. Biometric models were used to partition the variance in hangover phenotypes. A community-based sample of Australian twins. Members of the Australian Twin Registry, Cohort II who reported consuming alcohol in the past year when surveyed in 2004-07 (n = 4496). Telephone interviews assessed participants' frequency of drinking to intoxication and frequency of hangover the day after drinking. Analyses examined three phenotypes: hangover frequency, hangover susceptibility (i.e. residual variance in hangover frequency after accounting for intoxication frequency) and hangover resistance (a dichotomous variable defined as having been intoxicated at least once in the past year with no reported hangovers). Genetic factors accounted for 45% [95% confidence interval (CI) = 37-53%] and 40% (95% CI = 33-48%) of the variation in hangover frequency in men and women, respectively. Most of the genetic variation in hangover frequency overlapped with genetic contributions to intoxication frequency. Genetic influences accounted for 24% (95% CI = 14-35%) and 16% (95% CI = 8-25%) of the residual hangover susceptibility variance in men and women, respectively. Forty-three per cent (95% CI = 22-63%) of the variation in hangover resistance was explained by genetic influences, with no evidence for significant sex differences. There was no evidence for shared environmental influences for any of the hangover phenotypes. Individual differences in the propensity to experience a hangover and of being resistant to hangover at a given level of alcohol use are genetically influenced. © 2014 Society for the Study of Addiction.

  13. Evaluation of multiple approaches to identify genome-wide polymorphisms in closely related genotypes of sweet cherry (Prunus avium L.

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    Seanna Hewitt

    Full Text Available Identification of genetic polymorphisms and subsequent development of molecular markers is important for marker assisted breeding of superior cultivars of economically important species. Sweet cherry (Prunus avium L. is an economically important non-climacteric tree fruit crop in the Rosaceae family and has undergone a genetic bottleneck due to breeding, resulting in limited genetic diversity in the germplasm that is utilized for breeding new cultivars. Therefore, it is critical to recognize the best platforms for identifying genome-wide polymorphisms that can help identify, and consequently preserve, the diversity in a genetically constrained species. For the identification of polymorphisms in five closely related genotypes of sweet cherry, a gel-based approach (TRAP, reduced representation sequencing (TRAPseq, a 6k cherry SNParray, and whole genome sequencing (WGS approaches were evaluated in the identification of genome-wide polymorphisms in sweet cherry cultivars. All platforms facilitated detection of polymorphisms among the genotypes with variable efficiency. In assessing multiple SNP detection platforms, this study has demonstrated that a combination of appropriate approaches is necessary for efficient polymorphism identification, especially between closely related cultivars of a species. The information generated in this study provides a valuable resource for future genetic and genomic studies in sweet cherry, and the insights gained from the evaluation of multiple approaches can be utilized for other closely related species with limited genetic diversity in the breeding germplasm. Keywords: Polymorphisms, Prunus avium, Next-generation sequencing, Target region amplification polymorphism (TRAP, Genetic diversity, SNParray, Reduced representation sequencing, Whole genome sequencing (WGS

  14. [Phylogenetic analysis of closely related Leuconostoc citreum species based on partial housekeeping genes]. (United States)

    Lv, Qiang; Chen, Ming; Xu, Haiyan; Song, Yuqin; Sun, Zhihong; Dan, Tong; Sun, Tiansong


    Using the 16S rRNA, dnaA, murC and pyrG gene sequences, we identified the phylogenetic relationship among closely related Leuconostoc citreum species. Seven Leu. citreum strains originally isolated from sourdough were characterized by PCR methods to amplify the dnaA, murC and pyrG gene sequences, which were determined to assess the suitability as phylogenetic markers. Then, we estimated the genetic distance and constructed the phylogenetic trees including 16S rRNA and above mentioned three housekeeping genes combining with published corresponding sequences. By comparing the phylogenetic trees, the topology of three housekeeping genes trees were consistent with that of 16S rRNA gene. The homology of closely related Leu. citreum species among dnaA, murC, pyrG and 16S rRNA gene sequences were different, ranged from75.5% to 97.2%, 50.2% to 99.7%, 65.0% to 99.8% and 98.5% 100%, respectively. The phylogenetic relationship of three housekeeping genes sequences were highly consistent with the results of 16S rRNA gene sequence, while the genetic distance of these housekeeping genes were extremely high than 16S rRNA gene. Consequently, the dnaA, murC and pyrG gene are suitable for classification and identification closely related Leu. citreum species.

  15. Extracted facial feature of racial closely related faces (United States)

    Liewchavalit, Chalothorn; Akiba, Masakazu; Kanno, Tsuneo; Nagao, Tomoharu


    Human faces contain a lot of demographic information such as identity, gender, age, race and emotion. Human being can perceive these pieces of information and use it as an important clue in social interaction with other people. Race perception is considered the most delicacy and sensitive parts of face perception. There are many research concerning image-base race recognition, but most of them are focus on major race group such as Caucasoid, Negroid and Mongoloid. This paper focuses on how people classify race of the racial closely related group. As a sample of racial closely related group, we choose Japanese and Thai face to represents difference between Northern and Southern Mongoloid. Three psychological experiment was performed to study the strategies of face perception on race classification. As a result of psychological experiment, it can be suggested that race perception is an ability that can be learn. Eyes and eyebrows are the most attention point and eyes is a significant factor in race perception. The Principal Component Analysis (PCA) was performed to extract facial features of sample race group. Extracted race features of texture and shape were used to synthesize faces. As the result, it can be suggested that racial feature is rely on detailed texture rather than shape feature. This research is a indispensable important fundamental research on the race perception which are essential in the establishment of human-like race recognition system.

  16. eShadow: A tool for comparing closely related sequences

    Energy Technology Data Exchange (ETDEWEB)

    Ovcharenko, Ivan; Boffelli, Dario; Loots, Gabriela G.


    Primate sequence comparisons are difficult to interpret due to the high degree of sequence similarity shared between such closely related species. Recently, a novel method, phylogenetic shadowing, has been pioneered for predicting functional elements in the human genome through the analysis of multiple primate sequence alignments. We have expanded this theoretical approach to create a computational tool, eShadow, for the identification of elements under selective pressure in multiple sequence alignments of closely related genomes, such as in comparisons of human to primate or mouse to rat DNA. This tool integrates two different statistical methods and allows for the dynamic visualization of the resulting conservation profile. eShadow also includes a versatile optimization module capable of training the underlying Hidden Markov Model to differentially predict functional sequences. This module grants the tool high flexibility in the analysis of multiple sequence alignments and in comparing sequences with different divergence rates. Here, we describe the eShadow comparative tool and its potential uses for analyzing both multiple nucleotide and protein alignments to predict putative functional elements. The eShadow tool is publicly available at

  17. Change in genetic size of small-closed populations: lessons from a domestic mammal population

    Directory of Open Access Journals (Sweden)

    Farhad Ghafouri-Kesbi


    Full Text Available The aim of this study was to monitor changes in genetic size of a small-closed population of Iranian Zandi sheep, by using pedigree information from animals born between 1991 and 2005. The genetic size was assessed by using measures based on the probability of identity-by-descend of genes (coancestry, f, and effective population size, Ne, as well as measures based on probability of gene origin (effective number of founders, f e, effective number of founder genomes, f g, and effective number of non-founder genomes, f ne. Average coancestry, or the degree of genetic similarity of individuals, increased from 0.81% to 1.44% during the period 1993 to 2005, at the same time that Ne decreased from 263 to 93. The observed trend for f e was irregular throughout the experiment in a way that f e was 68, 87, 77, 92, and 80 in 1993, 1996, 1999, 2002, and 2005, respectively. Simultaneously, f g, the most informative effective number, decreased from 61 to 35. The index of genetic diversity (GD which was obtained from estimates of f g,decreased about 2% throughout the period studied. In addition, a noticeable reduction was observed in the estimates of f ne from 595 in 1993 to 61 in 2005. The higher than 1 ratio of f e to f g indicated the presence of bottlenecks and genetic drift in the development of this population of Zandi sheep. From 1993 to 1999, f ne was much higher than f e, thereby indicating that with respect to loss of genetic diversity, the unequal contribution of founders was more important than the random genetic drift in non-founder generations. Subsequently, random genetic drift in non-founder generations was the major reason for f e> f ne. The minimization of average coancestry in new reproductive individuals was recommended as a means of preserving the population against a further loss in genetic diversity.

  18. Differentiation of closely related fungi by electronic nose analysis

    DEFF Research Database (Denmark)

    Karlshøj, Kristian; Nielsen, Per Væggemose; Larsen, Thomas Ostenfeld


    the electronic nose potentially responded to, volatile metabolites were collected, by diffusive sampling overnight onto tubes containing Tenax TA, between the 7th and 8th day of Incubation.Volatiles were analyzed by gas chromatography coupled to mass spectrometry and the results indicated that mail alcohols...... as well as the noacheese ociated P. expansum have been investigated by electronic nose, GC-MS, and LGMS analysis. The isolates were inoculated on yeast extract sucroseagar in 20-mL headspace flasks and electronicnose analysis was performed daily for a-74period. To assess which volatile metabolites...... by high pressure liquid chromatography, coupled-to a diode array detector and a time of flight mass spectrometer. Several mycotoxins were detected in samples from the specles P.nordicum, P.roqueforti, P.paneum, P.carneum, and P.expansum. Differentiation of closely related mycotoxin producing fungi...

  19. Functionally relevant diversity of closely related Nitrospira in activated sludge. (United States)

    Gruber-Dorninger, Christiane; Pester, Michael; Kitzinger, Katharina; Savio, Domenico F; Loy, Alexander; Rattei, Thomas; Wagner, Michael; Daims, Holger


    Nitrospira are chemolithoautotrophic nitrite-oxidizing bacteria that catalyze the second step of nitrification in most oxic habitats and are important for excess nitrogen removal from sewage in wastewater treatment plants (WWTPs). To date, little is known about their diversity and ecological niche partitioning within complex communities. In this study, the fine-scale community structure and function of Nitrospira was analyzed in two full-scale WWTPs as model ecosystems. In Nitrospira-specific 16S rRNA clone libraries retrieved from each plant, closely related phylogenetic clusters (16S rRNA identities between clusters ranged from 95.8% to 99.6%) within Nitrospira lineages I and II were found. Newly designed probes for fluorescence in situ hybridization (FISH) allowed the specific detection of several of these clusters, whose coexistence in the WWTPs was shown for prolonged periods of several years. In situ ecophysiological analyses based on FISH, relative abundance and spatial arrangement quantification, as well as microautoradiography revealed functional differences of these Nitrospira clusters regarding the preferred nitrite concentration, the utilization of formate as substrate and the spatial coaggregation with ammonia-oxidizing bacteria as symbiotic partners. Amplicon pyrosequencing of the nxrB gene, which encodes subunit beta of nitrite oxidoreductase of Nitrospira, revealed in one of the WWTPs as many as 121 species-level nxrB operational taxonomic units with highly uneven relative abundances in the amplicon library. These results show a previously unrecognized high diversity of Nitrospira in engineered systems, which is at least partially linked to niche differentiation and may have important implications for process stability.

  20. Elucidation of Operon Structures across Closely Related Bacterial Genomes (United States)

    Li, Guojun


    About half of the protein-coding genes in prokaryotic genomes are organized into operons to facilitate co-regulation during transcription. With the evolution of genomes, operon structures are undergoing changes which could coordinate diverse gene expression patterns in response to various stimuli during the life cycle of a bacterial cell. Here we developed a graph-based model to elucidate the diversity of operon structures across a set of closely related bacterial genomes. In the constructed graph, each node represents one orthologous gene group (OGG) and a pair of nodes will be connected if any two genes, from the corresponding two OGGs respectively, are located in the same operon as immediate neighbors in any of the considered genomes. Through identifying the connected components in the above graph, we found that genes in a connected component are likely to be functionally related and these identified components tend to form treelike topology, such as paths and stars, corresponding to different biological mechanisms in transcriptional regulation as follows. Specifically, (i) a path-structure component integrates genes encoding a protein complex, such as ribosome; and (ii) a star-structure component not only groups related genes together, but also reflects the key functional roles of the central node of this component, such as the ABC transporter with a transporter permease and substrate-binding proteins surrounding it. Most interestingly, the genes from organisms with highly diverse living environments, i.e., biomass degraders and animal pathogens of clostridia in our study, can be clearly classified into different topological groups on some connected components. PMID:24959722

  1. Change in genetic size of small-closed populations: Lessons from a domestic mammal population. (United States)

    Ghafouri-Kesbi, Farhad


    The aim of this study was to monitor changes in genetic size of a small-closed population of Iranian Zandi sheep, by using pedigree information from animals born between 1991 and 2005. The genetic size was assessed by using measures based on the probability of identity-by-descend of genes (coancestry, f, and effective population size, N(e) ), as well as measures based on probability of gene origin (effective number of founders, f(e) , effective number of founder genomes, f(g) , and effective number of non-founder genomes, f(ne) ). Average coancestry, or the degree of genetic similarity of individuals, increased from 0.81% to 1.44% during the period 1993 to 2005, at the same time that N(e) decreased from 263 to 93. The observed trend for f(e) was irregular throughout the experiment in a way that f(e) was 68, 87, 77, 92, and 80 in 1993, 1996, 1999, 2002, and 2005, respectively. Simultaneously, f(g) , the most informative effective number, decreased from 61 to 35. The index of genetic diversity (GD) which was obtained from estimates of f(g) , decreased about 2% throughout the period studied. In addition, a noticeable reduction was observed in the estimates of f(ne) from 595 in 1993 to 61 in 2005. The higher than 1 ratio of f(e) to f(g) indicated the presence of bottlenecks and genetic drift in the development of this population of Zandi sheep. From 1993 to 1999, f(ne) was much higher than f(e) , thereby indicating that with respect to loss of genetic diversity, the unequal contribution of founders was more important than the random genetic drift in non-founder generations. Subsequently, random genetic drift in non-founder generations was the major reason for f(e) > f(ne) . The minimization of average coancestry in new reproductive individuals was recommended as a means of preserving the population against a further loss in genetic diversity.

  2. Genetic transformation of Bacillus strains close to bacillus subtilis and isolated from the soil

    International Nuclear Information System (INIS)

    Van, C.K.; Kuzin, Yu.Yu.; Kozlovskii, Yu.E.; Prozorov, A.A.


    Chromosomal and plasmid transformation was found in five out of 118 Bacillus strains, close or identical to Bacillus subtilis, and isolated from soil in Moscow or in the Moscow district. The efficiency of transformation in these strains was lower than that in derivatives of Bac. subtilis strain 168. In these strains the ability to undergo transformation was dependent on the rate of sporulation and the presence of restrictases. As in the case of Bac. subtilis 168 the strains isolated may be used as models in genetic transformation studies on Bac. subtilis

  3. A photosynthetic alveolate closely related to apicomplexan parasites

    Czech Academy of Sciences Publication Activity Database

    Moore, R. B.; Oborník, Miroslav; Janouškovec, Jan; Chrudimský, Tomáš; Vancová, Marie; Green, D. H.; Wright, S. W.; Davies, N. W.; Bolch, Ch. J. S.; Heimann, K.; Šlapeta, J.; Hoegh-Guldberg, O.; Logsdon, J. M.; Carter, D. A.


    Roč. 451, 21-02-2008 (2008), s. 959-963 ISSN 0028-0836 R&D Projects: GA ČR GA206/06/1439 Institutional research plan: CEZ:AV0Z60220518 Keywords : alveolate * photosynthesis * Chromera velia * evolution * Apicomplexa Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 31.434, year: 2008

  4. Legal questions relating to nuclear installations close to national frontiers

    International Nuclear Information System (INIS)

    Zieger, G.


    Main emphasis is placed on the criteria to decide whether the construction and operation of a nulcear power plant close to a national frontier is permissible or not. The author discusses the relevant provisions of the international law and those of the Treaty of Rome pertaining to the settlement of conflicts between neighbour states. According to the opinion of the author, nuclear installations close to borders are incompatible with international law only if they do not comply with accepted safety standards. The international agreements do not prohibit the construction of nuclear installations close to frontiers. It would be desirable, however, the author says, to conclude international treaties providing for mutual consultation and information, thus offering a platform for discussing controversial national interests; this idea already being put into practice in customary international law. (WB) [de

  5. Novel intron markers to study the phylogeny of closely related mammalian species

    Directory of Open Access Journals (Sweden)

    Castresana Jose


    Full Text Available Abstract Background Multilocus phylogenies can be used to infer the species tree of a group of closely related species. In species trees, the nodes represent the actual separation between species, thus providing essential information about their evolutionary history. In addition, multilocus phylogenies can help in analyses of species delimitation, gene flow and genetic differentiation within species. However, few adequate markers are available for such studies. Results In order to develop nuclear markers that can be useful in multilocus studies of mammals, we analyzed the mammalian genomes of human, chimpanzee, macaque, dog and cow. Rodents were excluded due to their unusual genomic features. Introns were extracted from the mammalian genomes because of their greater genetic variability and ease of amplification from the flanking exons. To an initial set of more than 10,000 one-to-one orthologous introns we applied several filters to select introns that belong to single-copy genes, show neutral evolutionary rates and have an adequate length for their amplification. This analysis led to a final list of 224 intron markers randomly distributed along the genome. To experimentally test their validity, we amplified twelve of these introns in a panel of six mammalian species. The result was that seven of these introns gave rise to a PCR band of the expected size in all species. In addition, we sequenced these bands and analyzed the accumulation of substitutions in these introns in five pairs of closely related species. The results showed that the estimated genetic distances in the five species pairs was quite variable among introns and that this divergence cannot be directly predicted from the overall intron divergence in mammals. Conclusions We have designed a new set of 224 nuclear introns with optimal features for the phylogeny of closely related mammalian species. A large proportion of the introns tested experimentally showed a perfect amplification

  6. Experiments for habitation-related technologies in closed system

    International Nuclear Information System (INIS)

    Masuda, Tsuyoshi; Tako, Yasuhiro


    Preliminary habitation experiments, including facility implementation tests, investigation of work load and psychological and physiological effect of human subjects, environmental monitoring tests, and integrated implementation tests were performed in Closed Ecology Experiment Facilities (CEEF). Results showed insufficient ability of CO 2 separator, issues of overtime work of subjects and inadequate communication between subjects and supporting staff outside the modules. Countermeasures for these issues were developed. Results show that habitation experiments from fiscal year 2005 on the CEEF were judged to be feasible. (author)

  7. Inverted duplication including Endothelin 3 closely related to dermal hyperpigmentation in Silkie chickens

    Directory of Open Access Journals (Sweden)

    Ming TIAN,Suyun FANG,Yanqiang WANG,Xiaorong GU,Chungang FENG,Rui HAO,Xiaoxiang HU,Ning LI


    Full Text Available The dermal hyperpigmentation phenotype in chickens is controlled by the dominant fibromelanosis allele. One of the ten unique characteristics of Silkie chickens is the fibromelanosis phenotype, which is pigmentation in the dermal layer of the skin and connective tissue. In this study, we found a mutation of fibromelanosis, a genomic rearrangement that included an inverted duplication of endothelin3 (EDN3, is responsible. We show that, as a stimulator of melanoblast proliferation, EDN3 expression was increased in silkie embryos and in both skin and muscle throughout adulthood. EDN3 expression led to an increase in expression of the downstream genes EDNRB2 and TYRP2, and was closely relate with the hyperpigmentation phenotype. We examined eight different Chinese chicken breeds showing hyperpigmentation and conclude that this structural genetic variant exists in all fibromelanosis chicken breeds.

  8. Closed orbit related problems: Correction, feedback, and analysis

    International Nuclear Information System (INIS)

    Bozoki, E.S.


    Orbit correction - moving the orbit to a desired orbit, orbit stability - keeping the orbit on the desired orbit using feedback to filter out unwanted noise, and orbit analysis - to learn more about the model of the machine, are strongly interrelated. They are the three facets of the same problem. The better one knows the model of the machine, the better the predictions that can be made on the behavior of the machine (inverse modeling) and the more accurately one can control the machine. On the other hand, one of the tools to learn more about the machine (modeling) is to study and analyze the orbit response to open-quotes kicks.close quotes

  9. The possibility of aromorphosis in further development of closed human life support systems using genetically modified organisms (United States)

    Gitelson, Josef

    evolution of the CES, the use of the advantages offered by genetically modified organisms produced by modern biotechnology can be regarded as aromorphosis. If the genetic program of biosyntheses performed by plants in-cludes the new genes that will program the synthesis of all molecules necessary for humans, the plants, both unicellular and higher, will produce the whole range of food substances perfectly corresponding to the requirements of the human body. This is a long way, but the investment of resources and time will be justified not only by the creation of an LSS for long-distance space missions and colonization of planets that will contain as many closed loops as possible and be energy efficient. This will also be a convenient and safest instrument to study and justify the wide use of products of genetically modified plants on Earth. Today, humanity is extremely wary of this idea because of its novelty. As experimental human life support ecosystems are closed systems, they provide the most reliable and safest instrument for studying issues related to GMO and preparing scientifically based suggestions for their practical use. The report will contain data on the spectra of mismatches between vegetable foods produced in BIOS-3 and human requirements, and the objectives of correcting the biosynthesis programs in the CES.

  10. Closing in on chemical bonds by opening up relativity theory. (United States)

    Whitney, Cynthia K


    This paper develops a connection between the phenomenology of chemical bonding and the theory of relativity. Empirical correlations between electron numbers in atoms and chemical bond stabilities in molecules are first reviewed and extended. Quantitative chemical bond strengths are then related to ionization potentials in elements. Striking patterns in ionization potentials are revealed when the data are viewed in an element-independent way, where element-specific details are removed via an appropriate scaling law. The scale factor involved is not explained by quantum mechanics; it is revealed only when one goes back further, to the development of Einstein's special relativity theory.

  11. Genomic comparison of closely related Giant Viruses supports an accordion-like model of evolution.

    Directory of Open Access Journals (Sweden)

    Jonathan eFilée


    Full Text Available Genome gigantism occurs so far in Phycodnaviridae and Mimiviridae (order Megavirales. Origin and evolution of these Giant Viruses (GVs remain open questions. Interestingly, availability of a collection of closely related GV genomes enabling genomic comparisons offer the opportunity to better understand the different evolutionary forces acting on these genomes. Whole genome alignment for 5 groups of viruses belonging to the Mimiviridae and Phycodnaviridae families show that there is no trend of genome expansion or general tendency of genome contraction. Instead, GV genomes accumulated genomic mutations over the time with gene gains compensating the different losses. In addition, each lineage displays specific patterns of genome evolution. Mimiviridae (megaviruses and mimiviruses and Chlorella Phycodnaviruses evolved mainly by duplications and losses of genes belonging to large paralogous families (including movements of diverse mobiles genetic elements, whereas Micromonas and Ostreococcus Phycodnaviruses derive most of their genetic novelties thought lateral gene transfers. Taken together, these data support an accordion-like model of evolution in which GV genomes have undergone successive steps of gene gain and gene loss, accrediting the hypothesis that genome gigantism appears early, before the diversification of the different GV lineages.

  12. Genomic comparison of closely related Giant Viruses supports an accordion-like model of evolution. (United States)

    Filée, Jonathan


    Genome gigantism occurs so far in Phycodnaviridae and Mimiviridae (order Megavirales). Origin and evolution of these Giant Viruses (GVs) remain open questions. Interestingly, availability of a collection of closely related GV genomes enabling genomic comparisons offer the opportunity to better understand the different evolutionary forces acting on these genomes. Whole genome alignment for five groups of viruses belonging to the Mimiviridae and Phycodnaviridae families show that there is no trend of genome expansion or general tendency of genome contraction. Instead, GV genomes accumulated genomic mutations over the time with gene gains compensating the different losses. In addition, each lineage displays specific patterns of genome evolution. Mimiviridae (megaviruses and mimiviruses) and Chlorella Phycodnaviruses evolved mainly by duplications and losses of genes belonging to large paralogous families (including movements of diverse mobiles genetic elements), whereas Micromonas and Ostreococcus Phycodnaviruses derive most of their genetic novelties thought lateral gene transfers. Taken together, these data support an accordion-like model of evolution in which GV genomes have undergone successive steps of gene gain and gene loss, accrediting the hypothesis that genome gigantism appears early, before the diversification of the different GV lineages.

  13. [Jealousy in close relationships: personal, relational and situational variables]. (United States)

    Demirtaş, H Andaç; Dönmez, Ali


    In this study, the effects of personal, situational, and relational variables (such as age, gender, gender role orientation, duration of relationship, relational satisfaction, and physical attractiveness of the partner) on jealousy are investigated. A sample of 454 individuals currently involved in dating or marital relationships (48 % married, 52 % unmarried) completed the Romantic Jealousy Questionnaire, Bem Sex Role Inventory, and Rosenberg Self-Esteem Scale. Stepwise regression analyses and 2 (gender) x2 (gender role orientation) x2 (relational type) ANOVA's were submitted for analyzing the data. Analysis indicated that unmarried people reported higher levels of jealousy than married people (F1-446 = 5.029). Married women reported less jealousy than unmarried women and married women reported more jealousy than married men. Age, relational satisfaction level, expectation level about the duration of the relationship, and physical attractiveness of the partner were unique predictors of the reported level of jealousy (R2 = 0.12; adjusted R2 = 0.11; P physical, emotional, and cognitive responses to jealousy compared to men. Women used more constructive (F1-446 = 6.27) and less destructive strategies than men (F1-446 = 6.27). Unmarried people used more destructive strategies than married people (F1-446 = 3.84). Age, self-esteem, and the duration of the relationship were unique predictors of coping strategies. The present study revealed that jealousy was a multidimensional variable. In particular, relational type, self-esteem, age, relational satisfaction, and sex are highly correlated with jealousy.

  14. [Constant or break? On the relations between human genetics and eugenics in the Twentieth Century]. (United States)

    Germann, Pascal


    The history of human genetics has been a neglected topic in history of science and medicine for a long time. Only recently, have medical historians begun to pay more attention to the history of human heredity. An important research question deals with the interconnections between human genetics and eugenics. This paper addresses this question: By focusing on a Swiss case study, the investigation of the heredity of goiter, I will argue that there existed close but also ambiguous relations between heredity research and eugenics in the twentieth century. Studies on human heredity often produced evidence that challenged eugenic aims and ideas. Concurrently, however, these studies fostered visions of genetic improvement of human populations.

  15. The Relational Humor Inventory: Functions of Humor in Close Relationships. (United States)

    DeKoning, E.; Weiss, R. L.


    This study describes the development of a self-report measure of functional humor in relationships. People were asked to report on their own and their partner's use of humor in the marriage. The Relational Humor Inventory proved to be a useful instrument for tapping important positive and negative relationship behaviors. (Contains 30 references, 4…

  16. Genetics of intracranial aneurysms and related diseases

    NARCIS (Netherlands)

    van 't Hof, F.N.G.


    Intracranial aneurysms (IA) are dilatations of the vessel walls of cerebral arteries. Some can rupture and result in a subarachnoid hemorrhage (SAH), a severe subtype of stroke. This thesis is set out to elucidate the pathophysiology of IA from a genetic perspective. The main conclusions are: 1.


    African Journals Online (AJOL)


    person, such as a genetic nurse, should inform them of their options and then refer them to a ... cation and counselling could fall to primary care doctors and nurses. Few pri- mary health care ... no prevention, treatment or cure, is very different.

  18. Integrative analysis of single nucleotide polymorphisms and gene expression efficiently distinguishes samples from closely related ethnic populations

    Directory of Open Access Journals (Sweden)

    Yang Hsin-Chou


    Full Text Available Abstract Background Ancestry informative markers (AIMs are a type of genetic marker that is informative for tracing the ancestral ethnicity of individuals. Application of AIMs has gained substantial attention in population genetics, forensic sciences, and medical genetics. Single nucleotide polymorphisms (SNPs, the materials of AIMs, are useful for classifying individuals from distinct continental origins but cannot discriminate individuals with subtle genetic differences from closely related ancestral lineages. Proof-of-principle studies have shown that gene expression (GE also is a heritable human variation that exhibits differential intensity distributions among ethnic groups. GE supplies ethnic information supplemental to SNPs; this motivated us to integrate SNP and GE markers to construct AIM panels with a reduced number of required markers and provide high accuracy in ancestry inference. Few studies in the literature have considered GE in this aspect, and none have integrated SNP and GE markers to aid classification of samples from closely related ethnic populations. Results We integrated a forward variable selection procedure into flexible discriminant analysis to identify key SNP and/or GE markers with the highest cross-validation prediction accuracy. By analyzing genome-wide SNP and/or GE markers in 210 independent samples from four ethnic groups in the HapMap II Project, we found that average testing accuracies for a majority of classification analyses were quite high, except for SNP-only analyses that were performed to discern study samples containing individuals from two close Asian populations. The average testing accuracies ranged from 0.53 to 0.79 for SNP-only analyses and increased to around 0.90 when GE markers were integrated together with SNP markers for the classification of samples from closely related Asian populations. Compared to GE-only analyses, integrative analyses of SNP and GE markers showed comparable testing

  19. Burnout and engagement: Identical twins or just close relatives?

    Directory of Open Access Journals (Sweden)

    Toon W. Taris


    Full Text Available Past research has frequently cast doubts on the theoretical and empirical distinction between the concepts of work engagement and burnout. Drawing on cross-sectional survey data from 1535 Dutch police officers, the current study examined (a the associations among the two core dimensions of burnout (i.e. exhaustion and cynicism and work engagement (vigor and dedication; and (b the concurrent and discriminant validity of these dimensions by relating these four dimensions to various important job demands and job resources. Confirmatory factor analysis showed that the distinction between burnout and engagement is elusive. Moreover, although the indicators of burnout and those of engagement differed in terms of their job-related correlates, these patterns of associations only partly supported previous theorizing on the antecedents of burnout and engagement. We conclude that burnout and engagement are to a large degree overlapping concepts and that their conceptual and empirical differences should not be overestimated.

  20. Molecular relationships between closely related strains and species of nematodes (United States)

    Butler, M. H.; Wall, S. M.; Luehrsen, K. R.; Fox, G. E.; Hecht, R. M.


    Electrophoretic comparisons have been made for 24 enzymes in the Bergerac and Bristol strains of Caenorhabditis elegans and the related species, Caenorhabditis briggsae. No variation was detected between the two strains of C. elegans. In contrast, the two species, C. elegans and C. briggsae exhibited electrophoretic differences in 22 of 24 enzymes. A consensus 5S rRNA sequence was determined for C. elegans and found to be identical to that from C. briggsae. By analogy with other species with relatively well established fossil records it can be inferred that the time of divergence between the two nematode species is probably in the tens of millions of years. The limited anatomical evolution during a time period in which proteins undergo extensive changes supports the hypothesis that anatomical evolution is not dependent on overall protein changes.

  1. Nucleosome-coupled expression differences in closely-related species

    Directory of Open Access Journals (Sweden)

    Gebbia Marinella


    Full Text Available Abstract Background Genome-wide nucleosome occupancy is negatively related to the average level of transcription factor motif binding based on studies in yeast and several other model organisms. The degree to which nucleosome-motif interactions relate to phenotypic changes across species is, however, unknown. Results We address this challenge by generating nucleosome positioning and cell cycle expression data for Saccharomyces bayanus and show that differences in nucleosome occupancy reflect cell cycle expression divergence between two yeast species, S. bayanus and S. cerevisiae. Specifically, genes with nucleosome-depleted MBP1 motifs upstream of their coding sequence show periodic expression during the cell cycle, whereas genes with nucleosome-shielded motifs do not. In addition, conserved cell cycle regulatory motifs across these two species are more nucleosome-depleted compared to those that are not conserved, suggesting that the degree of conservation of regulatory sites varies, and is reflected by nucleosome occupancy patterns. Finally, many changes in cell cycle gene expression patterns across species can be correlated to changes in nucleosome occupancy on motifs (rather than to the presence or absence of motifs. Conclusions Our observations suggest that alteration of nucleosome occupancy is a previously uncharacterized feature related to the divergence of cell cycle expression between species.

  2. Genetics Home Reference: myostatin-related muscle hypertrophy (United States)

    ... Twitter Home Health Conditions Myostatin-related muscle hypertrophy Myostatin-related muscle hypertrophy Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Myostatin-related muscle hypertrophy is a rare condition characterized ...

  3. Genetics Home Reference: CATSPER1-related nonsyndromic male infertility (United States)

    ... related nonsyndromic male infertility CATSPER1-related nonsyndromic male infertility Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description CATSPER1 -related nonsyndromic male infertility is a condition that affects the function of ...

  4. Quantum quenches in the Luttinger model and its close relatives (United States)

    Cazalilla, M. A.; Chung, Ming-Chiang


    A number of results on quantum quenches in the Luttinger and related models are surveyed with emphasis on post-quench correlations. For the Luttinger model and initial gaussian states, we discuss both sudden and smooth quenches of the interaction and the emergence of a steady state described by a generalized Gibbs ensemble. Comparisons between analytics and numerics, and the question of universality or lack thereof are also discussed. The relevance of the theoretical results to current and future experiments in the fields of ultracold atomic gases and mesoscopic systems of electrons is also briefly touched upon. Wherever possible, our approach is pedagogical and self-contained. This work is dedicated to the memory of our colleague Alejandro Muramatsu.

  5. Ethical challenges embedded in qualitative research interviews with close relatives. (United States)

    Haahr, Anita; Norlyk, Annelise; Hall, Elisabeth Oc


    Nurse researchers engaged in qualitative interviews with patients and spouses in healthcare may often experience being in unforeseen ethical dilemmas. Researchers are guided by the bioethical principles of justice, beneficence, non-maleficence, respect for human rights and respect for autonomy through the entire research process. However, these principles are not sufficient to prepare researchers for unanticipated ethical dilemmas related to qualitative research interviews. We describe and discuss ethically challenging and difficult moments embedded in two cases from our own phenomenological interview studies. We argue that qualitative interviews involve navigation between being guided by bioethics as a researcher, being a therapist/nurse and being a fellow human being or even a friend. The researchers' premises to react to unexpected situations and act in a sound ethical manner must be enhanced, and there is a need for an increased focus on the researchers' ethical preparation and to continually address and discuss cases from their own interviews.

  6. Ethical Challenges embedded in qualitative research interviews with close relatives

    DEFF Research Database (Denmark)

    Haahr, Anita; Norlyk, Annelise; Hall, Elisabeth


    Nurse researchers engaged in qualitative interviews with patients and spouses in healthcare may often experience being in unforseen ethical dilemmas. Researchers are guided by the bioethical principles of justice, beneficence, non-maleficence respect for human rights and respect for autonomy...... through the entire research process. However, these principles are not sufficient to prepare researchers for unanticipated ethical dilemmas related to qualitative researchs interviews. We describe and discuss ethically challenging and difficult moments embedded in two cases from our own phenomenological...... interview studies. We argue that qualitative interviews involve navigation between being guided by bioethics as a researcher, being a therapist/nurse and being a fellow human being or even a friend. The researchers' premises to react to unexpected situations and act in a sound ethical manner must...

  7. Analysis of genetic diversity in a close population of Zandi sheep ...

    Indian Academy of Sciences (India)

    of the effective population size (Ne) for extending popula- tion genetics theory developed ..... animal genetic resources management plans: management of small populations at risk. Food and Agriculture Organization,. Rome, Italy. Fisher R. A. ...

  8. 12 CFR 225.126 - Activities not closely related to banking. (United States)


    ... 12 Banks and Banking 3 2010-01-01 2010-01-01 false Activities not closely related to banking. 225.126 Section 225.126 Banks and Banking FEDERAL RESERVE SYSTEM (CONTINUED) BOARD OF GOVERNORS OF THE... Financial Holding Companies Interpretations § 225.126 Activities not closely related to banking. Pursuant to...

  9. Genetics Home Reference: SYNGAP1-related intellectual disability (United States)

    ... intellectual disability develops epilepsy, and about half have autism spectrum disorder . Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  10. Genetics Home Reference: REN-related kidney disease (United States)

    ... 2 Related Information How are genetic conditions and genes named? Additional Information & Resources MedlinePlus (5 links) Encyclopedia: Hyperkalemia Encyclopedia: Renin Health Topic: Anemia Health Topic: Gout Health Topic: Kidney Diseases Additional NIH Resources (2 ...

  11. Privacy preserving protocol for detecting genetic relatives using rare variants. (United States)

    Hormozdiari, Farhad; Joo, Jong Wha J; Wadia, Akshay; Guan, Feng; Ostrosky, Rafail; Sahai, Amit; Eskin, Eleazar


    High-throughput sequencing technologies have impacted many areas of genetic research. One such area is the identification of relatives from genetic data. The standard approach for the identification of genetic relatives collects the genomic data of all individuals and stores it in a database. Then, each pair of individuals is compared to detect the set of genetic relatives, and the matched individuals are informed. The main drawback of this approach is the requirement of sharing your genetic data with a trusted third party to perform the relatedness test. In this work, we propose a secure protocol to detect the genetic relatives from sequencing data while not exposing any information about their genomes. We assume that individuals have access to their genome sequences but do not want to share their genomes with anyone else. Unlike previous approaches, our approach uses both common and rare variants which provide the ability to detect much more distant relationships securely. We use a simulated data generated from the 1000 genomes data and illustrate that we can easily detect up to fifth degree cousins which was not possible using the existing methods. We also show in the 1000 genomes data with cryptic relationships that our method can detect these individuals. The software is freely available for download at © The Author 2014. Published by Oxford University Press.

  12. Testing DNA barcodes in closely related species of Curcuma (Zingiberaceae) from Myanmar and China. (United States)

    Chen, Juan; Zhao, Jietang; Erickson, David L; Xia, Nianhe; Kress, W John


    The genus Curcuma L. is commonly used as spices, medicines, dyes and ornamentals. Owing to its economic significance and lack of clear-cut morphological differences between species, this genus is an ideal case for developing DNA barcodes. In this study, four chloroplast DNA regions (matK, rbcL, trnH-psbA and trnL-F) and one nuclear region (ITS2) were generated for 44 Curcuma species and five species from closely related genera, represented by 96 samples. PCR amplification success rate, intra- and inter-specific genetic distance variation and the correct identification percentage were taken into account to assess candidate barcode regions. PCR and sequence success rate were high in matK (89.7%), rbcL (100%), trnH-psbA (100%), trnL-F (95.7%) and ITS2 (82.6%) regions. The results further showed that four candidate chloroplast barcoding regions (matK, rbcL, trnH-psbA and trnL-F) yield no barcode gaps, indicating that the genus Curcuma represents a challenging group for DNA barcoding. The ITS2 region presented large interspecific variation and provided the highest correct identification rates (46.7%) based on BLASTClust method among the five regions. However, the ITS2 only provided 7.9% based on NJ tree method. An increase in discriminatory power needs the development of more variable markers. © 2014 John Wiley & Sons Ltd.

  13. Are the Major Agglutinative Languages Genetically Related? (United States)

    Hakola, H. P. A.


    Examination of accidental CVC and CV correspondences among languages representing 5 large families of agglutinative languages found that comparison pairs had much more similarity between basic 100-word vocabularies than would have been possible by mere chance, supporting the hypothesis that those 5 language families were mutually related.…

  14. Relationship of Dyadic Closeness with Work-Related Stress: A Daily Diary Study (United States)

    Lavee, Yoav; Ben-Ari, Adital


    We examined the association between work-related stress of both spouses and daily fluctuations in their affective states and dyadic closeness. Daily diary data from 169 Israeli dual-earner couples were analyzed using multilevel modeling. The findings indicate that work stress has no direct effect on dyadic closeness but rather is mediated by the…

  15. Developing close combat behaviors for simulated soldiers using genetic programming techniques.

    Energy Technology Data Exchange (ETDEWEB)

    Pryor, Richard J.; Schaller, Mark J.


    Genetic programming is a powerful methodology for automatically producing solutions to problems in a variety of domains. It has been used successfully to develop behaviors for RoboCup soccer players and simple combat agents. We will attempt to use genetic programming to solve a problem in the domain of strategic combat, keeping in mind the end goal of developing sophisticated behaviors for compound defense and infiltration. The simplified problem at hand is that of two armed agents in a small room, containing obstacles, fighting against each other for survival. The base case and three changes are considered: a memory of positions using stacks, context-dependent genetic programming, and strongly typed genetic programming. Our work demonstrates slight improvements from the first two techniques, and no significant improvement from the last.

  16. Close relatives find meaning to cope with cancer diagnosis and treatment of family members. (United States)

    Feyh, Janelle M; Levine, Ellen G; Clay, Karine


    Pediatric palliative care has recently become a priority in the health care field and is implemented at the time of diagnosis rather than days or weeks before the child's death. Social constructivism theory in which humans generate meaning from their experiences was utilized as a general framework to determine the impact of pediatric palliative care on close relatives. The purpose of this grounded theory study was to generate a substantive theory that explains how close relatives such as grandparents, aunts, and uncles of a child with cancer experience palliative care. The participants of the study included close relatives of children in palliative care. Semistructured interviews and journaling were used to collect data. Initial, focused, and axial coding procedures were used to manage the data and a content analysis of the textual data was performed. Findings from the data suggested a process of finding meaning which helps close relatives to let go of what they cannot control while holding on to what they can control. Social change implications of this study may include improving health care programming for close relatives utilizing supportive-expressive measures. This programming may promote mental health of the close relatives who will learn to deal with their adjustment difficulties and improve their coping skills.

  17. Genetic distances between the Utah Mormons and related populations. (United States)

    McLellan, T; Jorde, L B; Skolnick, M H


    Gene frequency data, consisting of six red cell antigen loci, nine electrophoretic systems, and HLA-A and -B are reported for the Utah Mormon population. These are compared statistically to gene frequencies from at U.S. population, 13 European populations, and seven populations from three religious isolates. The Mormon gene frequencies are similar to those of their northern European ancestors. This is explained by the large founding size of the Mormon population and high rates of gene flow. In contrast, the religious isolates (Amish, Hutterites, and Mennonites) show marked divergence from their ancestral populations and each other, due to isolation and random genetic drift. The HLA loci and electrophoretic loci presented here yield sets of genetic distances that are highly correlated (r = .734) and that both correspond closely to the actual geographic distances among the European populations. The genetic distances based on red cell antigen loci correspond less closely to the geographic distances and exhibit lower correlations with both the HLA and electrophoretic loci (r = .524 and r = .565, respectively). PMID:6591796

  18. Close and distant: Contrasting the metabolism of two closely related subspecies of Scots pine under the effects of folivory and summer drought

    Energy Technology Data Exchange (ETDEWEB)

    Rivas-Ubach, Albert; Sardans, J.; Hodar, Jose A.; Garcia-Porta, Joan; Guenther, Alex B.; Pasa Tolic, Ljiljana; Oravec, Michal; Urban, Otmar; Penuelas, Josep


    The metabolome, the chemical phenotype of an organism, should be shaped by evolution. Metabolomes depend on genetic composition and expression, which can be sources of evolutionary inertia, so most aspects of metabolomes should be similar in closely related sympatric species. We examined the metabolomes of two sympatric subspecies of Pinus sylvestris in Sierra Nevada (southern Iberian Peninsula), one introduced (ssp. iberica) and one autochthonous (ssp. nevadensis), in summer and winter and exposed to folivory by the pine processionary moth. The overall metabolomes differed between the subspecies but both tended to respond more similarly to folivory. The metabolomes of the subspecies were more dissimilar in summer than in winter, and iberica trees had higher concentrations of metabolites directly related to drought stress. Our results suggest that certain plant metabolic responses associated with folivory have been conserved throughout evolutionary history. The larger divergence between subspecies metabolomes in summer is likely due to the warmer and drier conditions that the northern iberica subspecies experience in Sierra Nevada. Our results provide crucial insights into how iberica populations would respond to the predicted conditions of climate change under an increased defoliation, two recent severe issues in the Mediterranean Basin.

  19. Rapid identification of closely related muscle foods by vibrational spectroscopy and machine learning. (United States)

    Ellis, David I; Broadhurst, David; Clarke, Sarah J; Goodacre, Royston


    Muscle foods are an integral part of the human diet and during the last few decades consumption of poultry products in particular has increased significantly. It is important for consumers, retailers and food regulatory bodies that these products are of a consistently high quality, authentic, and have not been subjected to adulteration by any lower-grade material either by accident or for economic gain. A variety of methods have been developed for the identification and authentication of muscle foods. However, none of these are rapid or non-invasive, all are time-consuming and difficulties have been encountered in discriminating between the commercially important avian species. Whilst previous attempts have been made to discriminate between muscle foods using infrared spectroscopy, these have had limited success, in particular regarding the closely related poultry species, chicken and turkey. Moreover, this study includes novel data since no attempts have been made to discriminate between both the species and the distinct muscle groups within these species, and this is the first application of Raman spectroscopy to the study of muscle foods. Samples of pre-packed meat and poultry were acquired and FT-IR and Raman measurements taken directly from the meat surface. Qualitative interpretation of FT-IR and Raman spectra at the species and muscle group levels were possible using discriminant function analysis. Genetic algorithms were used to elucidate meaningful interpretation of FT-IR results in (bio)chemical terms and we show that specific wavenumbers, and therefore chemical species, were discriminatory for each type (species and muscle) of poultry sample. We believe that this approach would aid food regulatory bodies in the rapid identification of meat and poultry products and shows particular potential for rapid assessment of food adulteration.

  20. Developmental success, stability, and plasticity in closely related parthenogenetic and sexual lizards (Heteronotia, Gekkonidae). (United States)

    Kearney, Michael; Shine, Richard


    The developmental trajectory of an organism is influenced by the interaction between its genes and the environment in which it develops. For example, the phenotypic traits of a hatchling reptile can be influenced by the organism's genotype, by incubation temperature, and by genetically coded norms of reaction for thermally labile traits. The evolution of parthenogenesis provides a unique opportunity to explore such effects: a hybrid origin of this trait in vertebrates modifies important aspects of the genotype (e.g., heterozygosity, polyploidy) and may thus impact not only on the phenotype generally, but also on the ways in which incubation temperature affects expression of the phenotype. The scarcity of vertebrate parthenogenesis has been attributed to developmental disruptions, but previous work has rarely considered reaction norms of embryogenesis in this respect. We used closely related sexual and asexual races of the Australian gecko Heteronotia binoei, which include those with multiple origins of parthenogenesis, to explore the ways in which reproductive modes (sexual, asexual), incubation temperatures (24, 27, and 30 degrees C), and the interaction between these factors affected hatchling phenotypes. The hatchling traits we considered included incubation period, incidence of deformities, hatchling survivorship, body size and shape, scalation (including fluctuating asymmetry), locomotor performance, and growth rate. Developmental success was slightly reduced (higher proportion of abnormal offspring) in parthenogenetic lineages although there was no major difference in hatching success. Incubation temperature affected a suite of traits including incubation period, tail length, body mass relative to egg mass, labial scale counts, running speed, growth rate, and hatchling survival. Our data also reveal an interaction between reproductive modes and thermal regimes, with the phenotypic traits of parthenogenetic lizards less sensitive to incubation temperature than

  1. Convex optimisation approach to constrained fuel optimal control of spacecraft in close relative motion (United States)

    Massioni, Paolo; Massari, Mauro


    This paper describes an interesting and powerful approach to the constrained fuel-optimal control of spacecraft in close relative motion. The proposed approach is well suited for problems under linear dynamic equations, therefore perfectly fitting to the case of spacecraft flying in close relative motion. If the solution of the optimisation is approximated as a polynomial with respect to the time variable, then the problem can be approached with a technique developed in the control engineering community, known as "Sum Of Squares" (SOS), and the constraints can be reduced to bounds on the polynomials. Such a technique allows rewriting polynomial bounding problems in the form of convex optimisation problems, at the cost of a certain amount of conservatism. The principles of the techniques are explained and some application related to spacecraft flying in close relative motion are shown.

  2. 31 CFR 515.561 - Persons visiting close relatives in Cuba. (United States)


    ... Cuba. 515.561 Section 515.561 Money and Finance: Treasury Regulations Relating to Money and Finance... Cuba. (a) General license. (1) Persons subject to the jurisdiction of the United States and persons... close relative, as defined in § 515.339 of this part, who is a national of Cuba, as defined in § 515.302...

  3. Genetics Home Reference: FOXP2-related speech and language disorder (United States)

    ... skills such as walking and tying shoelaces, and autism spectrum disorders, which are conditions characterized by impaired communication and social interaction. Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  4. Reasonable Foreseeability and Liability in Relation to Genetically Modified Organisms (United States)

    Khoury, Lara; Smyth, Stuart


    This article examines problems that may arise when addressing liability resulting from the genetic modification of microbes, animals, and plants. More specifically, it evaluates how uncertainties relating to the outcomes of these biotechnological innovations affect--or may affect--the courts' application of the reasonable foreseeability…

  5. Estrus Traits Derived from Activity Measurements are Heritable and Closely Related to Conventional

    DEFF Research Database (Denmark)

    Ismael, Ahmed Ismael Sayed; Kargo, Morten; Fogh, Anders

    This study was aimed at assessing the genetic parameters for fertility-related traits, comparing the interval from calving to first insemination (ICF) to physical activity traits, especially days from calving to first high activity, DFHA. Data from commercial Holstein herds included insemination ...

  6. The Dynamic Genome and Transcriptome of the Human Fungal Pathogen Blastomyces and Close Relative Emmonsia


    Muñoz, José F.; Gauthier, Gregory M.; Desjardins, Christopher A.; Gallo, Juan E.; Holder, Jason; Sullivan, Thomas D.; Marty, Amber J.; Carmen, John C.; Chen, Zehua; Ding, Li; Gujja, Sharvari; Magrini, Vincent; Misas, Elizabeth; Mitreva, Makedonka; Priest, Margaret


    Three closely related thermally dimorphic pathogens are causal agents of major fungal diseases affecting humans in the Americas: blastomycosis, histoplasmosis and paracoccidioidomycosis. Here we report the genome sequence and analysis of four strains of the etiological agent of blastomycosis, Blastomyces, and two species of the related genus Emmonsia, typically pathogens of small mammals. Compared to related species, Blastomyces genomes are highly expanded, with long, often sharply demarcated...

  7. Close genetic proximity between cultivated and wild Bactris gasipaes Kunth. revealed by microsatellite markers in Western Ecuador.

    NARCIS (Netherlands)

    Couvreur, T.L.P.; Billotte, N.; Lara, C.; Vigouroux, Y.; Ludena, B.; Pham, J.L.; Pintaud, J.C.


    Bactris gasipaes Kunth (peach palm or Pejibaye) is the only domesticated palm of the Neotropics. The genetic relationships between the crop and its wild relatives are still unclear. We undertook field and laboratory work in order to describe differentiation and relationships between the wild and

  8. Vibrio vulnificus phage PV94 is closely related to temperate phages of V. cholerae and other Vibrio species.

    Directory of Open Access Journals (Sweden)

    Mark Pryshliak

    Full Text Available BACKGROUND: Vibrio vulnificus is an important pathogen which can cause serious infections in humans. Yet, there is limited knowledge on its virulence factors and the question whether temperate phages might be involved in pathogenicity, as is the case with V. cholerae. Thus far, only two phages (SSP002 and VvAW1 infecting V. vulnificus have been genetically characterized. These phages were isolated from the environment and are not related to Vibrio cholerae phages. The lack of information on temperate V. vulnificus phages prompted us to isolate those phages from lysogenic strains and to compare them with phages of other Vibrio species. RESULTS: In this study the temperate phage PV94 was isolated from a V. vulnificus biotype 1 strain by mitomycin C induction. PV94 is a myovirus whose genome is a linear double-stranded DNA of 33,828 bp with 5'-protruding ends. Sequence analysis of PV94 revealed a modular organization of the genome. The left half of the genome comprising the immunity region and genes for the integrase, terminase and replication proteins shows similarites to V. cholerae kappa phages whereas the right half containing genes for structural proteins is closely related to a prophage residing in V. furnissii NCTC 11218. CONCLUSION: We present the first genomic sequence of a temperate phage isolated from a human V. vulnificus isolate. The sequence analysis of the PV94 genome demonstrates the wide distribution of closely related prophages in various Vibrio species. Moreover, the mosaicism of the PV94 genome indicates a high degree of horizontal genetic exchange within the genus Vibrio, by which V. vulnificus might acquire virulence-associated genes from other species.

  9. Brain death: close relatives' use of imagery as a descriptor of experience. (United States)

    Frid, Ingvar; Haljamäe, Hengo; Ohlén, Joakim; Bergbom, Ingegerd


    This paper is a report of a study to explore the use of imagery to describe the experience of confronting brain death in a close relative. The brain death of a loved one has been described as an extremely difficult experience for close relatives, evoking feelings of anger, emotional pain, disbelief, guilt and suffering. It can also be difficult for relatives to distinguish brain death from the state of coma and thus difficult to apprehend information about the diagnosis. Narrative theory and a hermeneutic phenomenological method guided the interpretation of 17 narratives from close relatives of brain dead patients. All narratives were scrutinized for experiences of brain death. Data were primarily collected in 1999. The primary analysis related to close relatives' experience of brain death in a loved one. A secondary analysis of the imagery they used to describe their experience was carried out in 2003. Six categories of imagery used to describe the experience of confronting a diagnosis of brain death in a loved one emerged: chaotic unreality; inner collapse; sense of forlornness; clinging to the hope of survival; reconciliation with the reality of death; receiving care which gives comfort. Participants also identified two pairs of dimensions to describe their feelings about the relationship between their brain dead relative's body and personhood: presence-absence and divisibility-indivisibility. Being confronted with brain death meant entering into the anteroom of death, facing a loved one who is 'living-dead', and experiencing a chaotic drama of suffering. It is very important for members of the intensive care unit team to recognize, face and respond to these relatives' chaotic experiences, which cause them to need affirmation, comfort and caring. Relatives' use of imagery could be the starting point for a caring conversation about their experiences, either in conversations at the time of the death or when relatives are contacted in a later follow-up.

  10. Close monitoring as a contextual stimulator : How need for structure affects the relation between close monitoring and work outcomes

    NARCIS (Netherlands)

    Rietzschel, Eric F.; Slijkhuis, Marjette; Van Yperen, Nico W.


    In this article, we argue and demonstrate that employees' Personal Need for Structure (PNS) moderates the negative effects of close monitoring on job satisfaction, intrinsic work motivation, and innovative job performance (as rated by their supervisors). In a field study (N=295), we found that

  11. Isolation and characterisation of a ruminant alphaherpesvirus closely related to bovine herpesvirus 1 in a free-ranging red deer

    Directory of Open Access Journals (Sweden)

    Belák Sándor


    Full Text Available Abstract Background The genus Varicellovirus of the Herpesviridae subfamily Alphaherpesvirinae includes a cluster of viruses antigenically and genetically related to bovine herpesvirus 1 (BoHV-1: namely bovine herpesvirus 5 (BoHV-5, bubaline herpesvirus 1 (BuHV-1, caprine herpesvirus 1 (CpHV-1, cervid herpesviruses 1 (CvHV-1 and 2 (CvHV-2 and elk herpesvirus 1 (ElkHV-1. Considering the serological relationship between these ruminant alphaherpesviruses, several surveys have studied the occurrence of BoHV-1 related virus infection in wild and domestic ruminant species. In this way, a recent investigation has indicated, in Belgium, a high increase in the serological prevalence of BoHV-1 related virus infection in free-ranging red deer population. In this context, it has been decided to investigate the presence of an alphaherpesvirus spreading in the Belgian free-ranging red deer population. Results The current study reports the first isolation in a free-ranging red deer of a BoHV-1 closely related virus. The isolate was antigenically, genomically and genetically characterised by comparison with several ruminant alphaherpesvirus. Immunofluorescence assays revealed the isolate was antigenically distinct from bovine and caprine alphaherpesviruses. Similarly, BamHI and BstEII restriction analyses demonstrated the genomic difference between the isolate and the other ruminant alphaherpesviruses. Next, the sequencing of selected parts of UL27 and US8 genes showed a high degree of homologies between each BoHV-1 related ruminant alphaherpesvirus and the isolate. Besides the close relationship between all ruminant alphaherpesviruses, the phylogenetic analysis revealed that the isolate clustered with CvHV-1. Conclusion The first isolation of a virus closely related to BoHV-1 in a free-ranging red deer is reported. Data demonstrate that a CvHV-1 strain, named Anlier, circulates in wild red deer in continental Europe. Anlier strain show consistent differences

  12. Genetic variability of six French meat sheep breeds in relation to their genetic management. (United States)

    Huby, Marie; Griffon, Laurent; Moureaux, Sophie; De Rochambeau, Hubert; Danchin-Burge, Coralie; Verrier, Etienne


    Some demographic parameters, the genetic structure and the evolution of the genetic variability of six French meat sheep breeds were analysed in relation with their management. Four of these breeds are submitted to more or less intense selection: the Berrichon du Cher (BCH), Blanc du Massif Central (BMC), Charollais (CHA) and Limousin (LIM); the other two breeds are under conservation: the Roussin de La Hague (RLH) and Solognot (SOL). Genealogical data of the recorded animals born from 1970 to 2000 and of their known ancestors were used. The most balanced contributions of the different flocks to the sire-daughter path was found in the SOL. In the BCH, a single flock provided 43% of the sire-AI sire path, whereas the contributions of the flocks were more balanced in the BMC and LIM (the only other breeds where AI is used to a substantial amount). The distribution of the expected genetic contribution of the founder animals was found to be unbalanced, especially in the BCH and LIM. The effective numbers of ancestors (founders or not) for the ewes born from 1996 to 2000 were equal to 35 (BCH), 144 (BMC), 112 (CHA), 69 (LIM), 40 (RLH) and 49 (SOL). Inbreeding was not analysed in the BMC, due to incomplete pedigree information. From 1980 on, the rates of inbreeding, in percentage points per year, were +0.112 (BCH), +0.045 (CHA), +0.036 (LIM), +0.098 (RLH) and +0.062 (SOL). The implications of the observed trends on genetic variability are discussed in relation to the genetic management of each breed. The need for a larger selection basis in the BCH, the efficiency of the rules applied in the SOL to preserve the genetic variability and the need for a more collective organisation in the CHA and RLH are outlined.

  13. Genetic variability of six French meat sheep breeds in relation to their genetic management

    Directory of Open Access Journals (Sweden)

    Coralie Danchin-Burge


    Full Text Available Abstract Some demographic parameters, the genetic structure and the evolution of the genetic variability of six French meat sheep breeds were analysed in relation with their management. Four of these breeds are submitted to more or less intense selection: the Berrichon du Cher (BCH, Blanc du Massif Central (BMC, Charollais (CHA and Limousin (LIM; the other two breeds are under conservation: the Roussin de La Hague (RLH and Solognot (SOL. Genealogical data of the recorded animals born from 1970 to 2000 and of their known ancestors were used. The most balanced contributions of the different flocks to the sire-daughter path was found in the SOL. In the BCH, a single flock provided 43% of the sire-AI sire path, whereas the contributions of the flocks were more balanced in the BMC and LIM (the only other breeds where AI is used to a substantial amount. The distribution of the expected genetic contribution of the founder animals was found to be unbalanced, especially in the BCH and LIM. The effective numbers of ancestors (founders or not for the ewes born from 1996 to 2000 were equal to 35 (BCH, 144 (BMC, 112 (CHA, 69 (LIM, 40 (RLH and 49 (SOL. Inbreeding was not analysed in the BMC, due to incomplete pedigree information. From 1980 on, the rates of inbreeding, in percentage points per year, were +0.112 (BCH, +0.045 (CHA, +0.036 (LIM, +0.098 (RLH and +0.062 (SOL. The implications of the observed trends on genetic variability are discussed in relation to the genetic management of each breed. The need for a larger selection basis in the BCH, the efficiency of the rules applied in the SOL to preserve the genetic variability and the need for a more collective organisation in the CHA and RLH are outlined.

  14. The Genetic Variation of Bali Cattle (Bos javanicus Based on Sex Related Y Chromosome Gene

    Directory of Open Access Journals (Sweden)

    A Winaya


    Full Text Available Bali cattle is very popular Indonesian local beef related to their status in community living process of farmers in Indonesia, especially as providers of meat and exotic animal. Bali cattle were able to adapt the limited environment and becoming local livestock that existed until recently.  In our early study by microsatellites showed that Bali cattle have specific allele. In this study we analyzed the variance of partly sex related Y (SRY gene sequence in Bali cattle bull as a source of cement for Artificial Insemination (AI.  Blood from 17 two location of AI center, Singosari, Malang and Baturiti, Bali was collected and then extracted to get the DNA genome.  PCR reaction was done to amplify partially of SRY gene segment and followed by sequencing PCR products to get the DNA sequence of SRY gene. The SRY gene sequence was used to determine the genetic variation and phylogenetic relationship.  We found that Bali cattle bull from Singosari has relatively closed genetic relationship with Baturiti. It is also supported that in early data some Bali bulls of Singosari were came from Baturiti. It has been known that Baturiti is the one source of Bali cattle bull with promising genetic potential. While, in general that Bali bull where came from two areas were not different on reproductive performances. It is important to understand about the genetic variation of Bali cattle in molecular level related to conservation effort and maintaining the genetic characters of the local cattle. So, it will not become extinct or even decreased the genetic quality of Indonesian indigenous cattle.   Key Words : Bali cattle, SRY gene, artificial insemination, phylogenetic, allele   Animal Production 13(3:150-155 (2011

  15. Differences in mating strategies in two closely related small ermine moth species (Lepidoptera: Yponomeutidae)

    NARCIS (Netherlands)

    Bakker, A.C.; van Ginkel, W.E.; Roessingh, P.; Menken, S.B.J.


    The degree of polyandry in a species is linked to other life history traits such as egg maturation, life span, and male ejaculate size and quality. The study of differences in mating strategies between closely related species can provide a better understanding of the evolution of these strategies

  16. Differences in memory dynamics between two closely related parasitoid wasp species

    NARCIS (Netherlands)

    Bleeker, M.A.K.; Smid, H.M.; Steidle, J.L.M.; Kruidhof, H.M.; van Loon, J.J.A.; Vet, L.E.M.


    The two closely related parasitoids Cotesia glomerata and C. rubecula (Hymenoptera: Braconidae) coexist in The Netherlands where they occupy slightly different niches. When searching for their caterpillar hosts, they use host plant odours that are released upon feeding by the caterpillars. The

  17. Signals of speciation: Volatile organic compounds resolve closely related sagebrush taxa, suggesting their importance in evolution (United States)

    Deidre M. Jaeger; Justin B. Runyon; Bryce A. Richardson


    Volatile organic compounds (VOCs) play important roles in the environmental adaptation and fitness of plants. Comparison of the qualitative and quantitative differences in VOCs among closely related taxa and assessing the effects of environment on their emissions are important steps to deducing VOC function and evolutionary importance.

  18. Interspecific competition, predation, and the coexistence of three closely related neotropical armoured catfishes (Siluriformes - Callichthyidae)

    NARCIS (Netherlands)

    Mol, J.H.A.


    Tropical ecosystems are renowned for their high biodiversity with many closely related species living together. Alpha diversity of tropical freshwater fishes is also extremely high, as exemplified by the cichlid fauna of the Great African lakes and the neotropical characins. Since

  19. Family Communication Patterns and Relational Maintenance Behavior: Direct and Mediated Associations with Friendship Closeness (United States)

    Ledbetter, Andrew M.


    In this study, both face-to-face and online relational maintenance behaviors were tested as mediators of family communication patterns and closeness with a same-sex friend. Participants included 417 young adults recruited from communication courses at a large university in the Midwestern United States. The obtained structural model demonstrated…

  20. A simple method to design non-collision relative orbits for close spacecraft formation flying (United States)

    Jiang, Wei; Li, JunFeng; Jiang, FangHua; Bernelli-Zazzera, Franco


    A set of linearized relative motion equations of spacecraft flying on unperturbed elliptical orbits are specialized for particular cases, where the leader orbit is circular or equatorial. Based on these extended equations, we are able to analyze the relative motion regulation between a pair of spacecraft flying on arbitrary unperturbed orbits with the same semi-major axis in close formation. Given the initial orbital elements of the leader, this paper presents a simple way to design initial relative orbital elements of close spacecraft with the same semi-major axis, thus preventing collision under non-perturbed conditions. Considering the mean influence of J 2 perturbation, namely secular J 2 perturbation, we derive the mean derivatives of orbital element differences, and then expand them to first order. Thus the first order expansion of orbital element differences can be added to the relative motion equations for further analysis. For a pair of spacecraft that will never collide under non-perturbed situations, we present a simple method to determine whether a collision will occur when J 2 perturbation is considered. Examples are given to prove the validity of the extended relative motion equations and to illustrate how the methods presented can be used. The simple method for designing initial relative orbital elements proposed here could be helpful to the preliminary design of the relative orbital elements between spacecraft in a close formation, when collision avoidance is necessary.

  1. Relations of mitochondrial genetic variants to measures of vascular function. (United States)

    Fetterman, Jessica L; Liu, Chunyu; Mitchell, Gary F; Vasan, Ramachandran S; Benjamin, Emelia J; Vita, Joseph A; Hamburg, Naomi M; Levy, Daniel


    Mitochondrial genetic variation with resultant alterations in oxidative phosphorylation may influence vascular function and contribute to cardiovascular disease susceptibility. We assessed relations of peptide-encoding variants in the mitochondrial genome with measures of vascular function in Framingham Heart Study participants. Of 258 variants assessed, 40 were predicted to have functional consequences by bioinformatics programs. A maternal pattern of heritability was estimated to contribute to the variability of aortic stiffness. A putative association with a microvascular function measure was identified that requires replication. The methods we have developed can be applied to assess the relations of mitochondrial genetic variation to other phenotypes. Copyright © 2017 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

  2. A genetic algorithm approach for solving a closed loop supply chain model

    DEFF Research Database (Denmark)

    Kannan, G.; Sasikumar, P.; Kannan, Devika


    in reverse logistics is to take back the used products, either under warranty or at the end of use or at the end of lease, so that the products or its parts are appropriately disposed, recycled, reused or remanufactured. In order to overcome this issue, it is necessary to setup a logistics network...... for arising goods flow from end users to manufacturers. In this study, the optimum usage of secondary lead recovered from the spent lead-acid batteries for producing new battery is presented. The disposal in surface or sewage water or land of liquid content of the lead-acid batteries is strictly restricted....... Because of the need for environmental protection and the lack of considerable lead resources, the spent batteries treatment and lead recovery are becoming crucial now-a-days. The objective of this paper is to develop a multi echelon, multi period, multi product closed loop supply chain network model...

  3. The relation between multilocus population genetics and social evolution theory. (United States)

    Gardner, Andy; West, Stuart A; Barton, Nicholas H


    Evolution at multiple gene positions is complicated. Direct selection on one gene disturbs the evolutionary dynamics of associated genes. Recent years have seen the development of a multilocus methodology for modeling evolution at arbitrary numbers of gene positions with arbitrary dominance and epistatic relations, mode of inheritance, genetic linkage, and recombination. We show that the approach is conceptually analogous to social evolutionary methodology, which focuses on selection acting on associated individuals. In doing so, we (1) make explicit the links between the multilocus methodology and the foundations of social evolution theory, namely, Price's theorem and Hamilton's rule; (2) relate the multilocus approach to levels-of-selection and neighbor-modulated-fitness approaches in social evolution; (3) highlight the equivalence between genetical hitchhiking and kin selection; (4) demonstrate that the multilocus methodology allows for social evolutionary analyses involving coevolution of multiple traits and genetical associations between nonrelatives, including individuals of different species; (5) show that this methodology helps solve problems of dynamic sufficiency in social evolution theory; (6) form links between invasion criteria in multilocus systems and Hamilton's rule of kin selection; (7) illustrate the generality and exactness of Hamilton's rule, which has previously been described as an approximate, heuristic result.

  4. Phylogenetic reconstruction and DNA barcoding for closely related pine moth species (Dendrolimus) in China with multiple gene markers. (United States)

    Dai, Qing-Yan; Gao, Qiang; Wu, Chun-Sheng; Chesters, Douglas; Zhu, Chao-Dong; Zhang, Ai-Bing


    Unlike distinct species, closely related species offer a great challenge for phylogeny reconstruction and species identification with DNA barcoding due to their often overlapping genetic variation. We tested a sibling species group of pine moth pests in China with a standard cytochrome c oxidase subunit I (COI) gene and two alternative internal transcribed spacer (ITS) genes (ITS1 and ITS2). Five different phylogenetic/DNA barcoding analysis methods (Maximum likelihood (ML)/Neighbor-joining (NJ), "best close match" (BCM), Minimum distance (MD), and BP-based method (BP)), representing commonly used methodology (tree-based and non-tree based) in the field, were applied to both single-gene and multiple-gene analyses. Our results demonstrated clear reciprocal species monophyly for three relatively distant related species, Dendrolimus superans, D. houi, D. kikuchii, as recovered by both single and multiple genes while the phylogenetic relationship of three closely related species, D. punctatus, D. tabulaeformis, D. spectabilis, could not be resolved with the traditional tree-building methods. Additionally, we find the standard COI barcode outperforms two nuclear ITS genes, whatever the methods used. On average, the COI barcode achieved a success rate of 94.10-97.40%, while ITS1 and ITS2 obtained a success rate of 64.70-81.60%, indicating ITS genes are less suitable for species identification in this case. We propose the use of an overall success rate of species identification that takes both sequencing success and assignation success into account, since species identification success rates with multiple-gene barcoding system were generally overestimated, especially by tree-based methods, where only successfully sequenced DNA sequences were used to construct a phylogenetic tree. Non-tree based methods, such as MD, BCM, and BP approaches, presented advantages over tree-based methods by reporting the overall success rates with statistical significance. In addition, our

  5. Phylogenetic reconstruction and DNA barcoding for closely related pine moth species (Dendrolimus in China with multiple gene markers.

    Directory of Open Access Journals (Sweden)

    Qing-Yan Dai

    Full Text Available Unlike distinct species, closely related species offer a great challenge for phylogeny reconstruction and species identification with DNA barcoding due to their often overlapping genetic variation. We tested a sibling species group of pine moth pests in China with a standard cytochrome c oxidase subunit I (COI gene and two alternative internal transcribed spacer (ITS genes (ITS1 and ITS2. Five different phylogenetic/DNA barcoding analysis methods (Maximum likelihood (ML/Neighbor-joining (NJ, "best close match" (BCM, Minimum distance (MD, and BP-based method (BP, representing commonly used methodology (tree-based and non-tree based in the field, were applied to both single-gene and multiple-gene analyses. Our results demonstrated clear reciprocal species monophyly for three relatively distant related species, Dendrolimus superans, D. houi, D. kikuchii, as recovered by both single and multiple genes while the phylogenetic relationship of three closely related species, D. punctatus, D. tabulaeformis, D. spectabilis, could not be resolved with the traditional tree-building methods. Additionally, we find the standard COI barcode outperforms two nuclear ITS genes, whatever the methods used. On average, the COI barcode achieved a success rate of 94.10-97.40%, while ITS1 and ITS2 obtained a success rate of 64.70-81.60%, indicating ITS genes are less suitable for species identification in this case. We propose the use of an overall success rate of species identification that takes both sequencing success and assignation success into account, since species identification success rates with multiple-gene barcoding system were generally overestimated, especially by tree-based methods, where only successfully sequenced DNA sequences were used to construct a phylogenetic tree. Non-tree based methods, such as MD, BCM, and BP approaches, presented advantages over tree-based methods by reporting the overall success rates with statistical significance. In

  6. Modelling the genetic risk in age-related macular degeneration.

    Directory of Open Access Journals (Sweden)

    Felix Grassmann

    Full Text Available Late-stage age-related macular degeneration (AMD is a common sight-threatening disease of the central retina affecting approximately 1 in 30 Caucasians. Besides age and smoking, genetic variants from several gene loci have reproducibly been associated with this condition and likely explain a large proportion of disease. Here, we developed a genetic risk score (GRS for AMD based on 13 risk variants from eight gene loci. The model exhibited good discriminative accuracy, area-under-curve (AUC of the receiver-operating characteristic of 0.820, which was confirmed in a cross-validation approach. Noteworthy, younger AMD patients aged below 75 had a significantly higher mean GRS (1.87, 95% CI: 1.69-2.05 than patients aged 75 and above (1.45, 95% CI: 1.36-1.54. Based on five equally sized GRS intervals, we present a risk classification with a relative AMD risk of 64.0 (95% CI: 14.11-1131.96 for individuals in the highest category (GRS 3.44-5.18, 0.5% of the general population compared to subjects with the most common genetic background (GRS -0.05-1.70, 40.2% of general population. The highest GRS category identifies AMD patients with a sensitivity of 7.9% and a specificity of 99.9% when compared to the four lower categories. Modeling a general population around 85 years of age, 87.4% of individuals in the highest GRS category would be expected to develop AMD by that age. In contrast, only 2.2% of individuals in the two lowest GRS categories which represent almost 50% of the general population are expected to manifest AMD. Our findings underscore the large proportion of AMD cases explained by genetics particularly for younger AMD patients. The five-category risk classification could be useful for therapeutic stratification or for diagnostic testing purposes once preventive treatment is available.

  7. Relationship between ecomorphology and trophic segregation in four closely related sympatric fish species (Teleostei, Sciaenidae). (United States)

    Blasina, Gabriela; Molina, Juan; Lopez Cazorla, Andrea; Díaz de Astarloa, Juan

    This study explores the relationship between ecomorphology and trophic segregation in four closely related sympatric fish species (Teleostei, Sciaenidae) that are known to differ in their trophic habits. Only adult specimens were analyzed: 103 Cynoscion guatucupa, 77 Pogonias cromis, 61 Micropogonias furnieri, and 48 Menticirrhus americanus. The four species presented divergent ecomorphological traits related to swimming agility, prey spotting and capture, and the potential size of prey they were able to swallow. Results suggest that these sciaenid species can partition the food resources, even though they completely overlap in space. Differences in their ecomorphological traits appear to correlate closely with the diet and consequently could explain the trophic differentiation observed. Arguably, these ecomorphological differences play a significant role in the coexistence of the adults of these sympatric fish species. Copyright © 2016 Académie des sciences. Published by Elsevier SAS. All rights reserved.

  8. High diversity in neuropeptide immunoreactivity patterns among three closely related species of Dinophilidae (Annelida)

    DEFF Research Database (Denmark)

    Kerbl, Alexandra; Conzelmann, Markus; Jékely, Gáspár


    Neuropeptides are conserved metazoan signaling molecules, and represent useful markers for comparative investigations on the morphology and function of the nervous system. However, little is known about the variation of neuropeptide expression patterns across closely related species in invertebrate...... groups other than insects. In this study, we compare the immunoreactivity patterns of 14 neuropeptides in three closely related microscopic dinophilid annelids (Dinophilus gyrociliatus, D. taeniatus and Trilobodrilus axi). The brains of all three species were found to consist of around 700 somata...... species. FMRFamide, MLD/pedal peptide, allatotropin, RNamide, excitatory peptide, and FVRIamide showed a broad localization within the brain, while calcitonin, SIFamide, vasotocin, RGWamide, DLamide, FLamide, FVamide, MIP, and serotonin were present in fewer cells in demarcated regions. The different...

  9. A universal nonlinear relation among boundary states in closed string field theory

    International Nuclear Information System (INIS)

    Kishimoto, Isao; Matsuo, Yutaka; Watanabe, Eitoku


    We show that the boundary states satisfy a nonlinear relation (the idempotency equation) with respect to the star product of closed string field theory. This relation is universal in the sense that various D-branes, including the infinitesimally deformed ones, satisfy the same equation, including the coefficient. This paper generalizes our analysis [hep-th/0306189] in the following senses. (1) We present a background-independent formulation based on conformal field theory. It illuminates the geometric nature of the relation and allows us to more systematically analyze the variations around the D-brane background. (2) We show that the Witten-type star product satisfies a similar relation but with a more divergent coefficient. (3) We determine the coefficient of the relation analytically. The result shows that the α parameter can be formally factored out, and the relation becomes universal. We present a conjecture on vacuum theory based on this computation. (author)

  10. Relational Mobility Explains Between- and Within-Culture Differences in Self-Disclosure to Close Friends


    Schug, Joanna; Yuki, Masaki; Maddux, William W.


    The current research proposes a novel explanation for previously demonstrated findings that East Asians disclose less personal information to others than do Westerners. We propose that both between- and within-culture differences in self-disclosure toward close friends may be explained by the construct of "relational mobility" - the general degree to which individuals in the society have the opportunities to form new and terminate old relationships. In Study 1, we found that cross-cultural di...

  11. Genomic comparison of closely related Giant Viruses supports an accordion-like model of evolution


    Filée, Jonathan


    Genome gigantism occurs so far in Phycodnaviridae and Mimiviridae (order Megavirales). Origin and evolution of these Giant Viruses (GVs) remain open questions. Interestingly, availability of a collection of closely related GV genomes enabling genomic comparisons offer the opportunity to better understand the different evolutionary forces acting on these genomes. Whole genome alignment for five groups of viruses belonging to the Mimiviridae and Phycodnaviridae families show that there is no tr...

  12. An Efficient Inductive Genetic Learning Algorithm for Fuzzy Relational Rules

    Directory of Open Access Journals (Sweden)



    Full Text Available Fuzzy modelling research has traditionally focused on certain types of fuzzy rules. However, the use of alternative rule models could improve the ability of fuzzy systems to represent a specific problem. In this proposal, an extended fuzzy rule model, that can include relations between variables in the antecedent of rules is presented. Furthermore, a learning algorithm based on the iterative genetic approach which is able to represent the knowledge using this model is proposed as well. On the other hand, potential relations among initial variables imply an exponential growth in the feasible rule search space. Consequently, two filters for detecting relevant potential relations are added to the learning algorithm. These filters allows to decrease the search space complexity and increase the algorithm efficiency. Finally, we also present an experimental study to demonstrate the benefits of using fuzzy relational rules.

  13. Sex linked versus autosomal inbreeding coefficient in close consanguineous marriages in the Basque country and Castile (Spain): genetic implications. (United States)

    Calderón, R; Morales, B; Peña, J A; Delgado, J


    Pedigree structures of 161 uncle/niece-aunt/nephew and 4420 first cousin consanguineous marriages registered during the 19th and 20th centuries in two large and very different Spanish regions have been analysed and their genetic consequences evaluated. The frequencies of the different pedigree subtypes within each degree of relationship were quite similar in both populations despite significant heterogeneity in inbreeding patterns. The mean X-linked inbreeding coefficient (Fx) for each type of cousin mating was calculated and compared to that expected for autosomal genes (F). The effect of genealogical structure on the Fx/F ratio was compared to different cultural populations worldwide. Preferentiality and avoidance of close consanguinity along with specific types of pedigrees are discussed on the basis of premarital migration and sociocultural rules still deeply rooted in certain human groups. By admitting that the observed Fx coefficient is usually higher than F in most human populations some remarks have been made in terms of population genetic risk.

  14. Power, attraction, and reference in macrolevel social relations: An analysis of closed groups and closed societies based on the psychology of the “Soviet person”

    Directory of Open Access Journals (Sweden)

    Radina Nadezhda K.


    Full Text Available In this article the features of social-relationship systems are analyzed based on the data from a sociopsychological empirical study conducted in two stages (2002 and 2014 on a large sample with the help of g. Kelly’s Repertory grid Technique. A. V. Petrovsky’s three-factor interpersonal-relationships model as interpreted for closed groups by M. Yu. Kondratev and the concept of the closed society as described by Karl Popper provide the foundation for the theoretical hypothesis we tested. The empirical data obtained in 2002 came from 391 participants of different ages who were living in provincial towns in the Nizhny Novgorod region. The elderly respondents (232 people had lived almost all their lives under the Soviet regime; the middle-aged respondents (159 people got their education and started their careers in the USSR. Soviet society is considered to be closed because of its authoritarian and collectivist nature, static social structure, and dogmatic ideology. It is argued that both closed societies and closed groups are characterized by a rigid hierarchical social structure, isolation from other systems, and depersonalization of social relations. We have proved that members of a closed group and citizens of a closed society have similar social-relationship matrices.

  15. Comparative study of acetylcholinesterase and glutathione S-transferase activities of closely related cave and surface Asellus aquaticus (Isopoda: Crustacea.

    Directory of Open Access Journals (Sweden)

    Anita Jemec

    Full Text Available The freshwater isopod crustacean Asellus aquaticus has recently been developed as an emerging invertebrate cave model for studying evolutionary and developmental biology. Mostly morphological and genetic differences between cave and surface A. aquaticus populations have been described up to now, while scarce data are available on other aspects, including physiology. The purpose of this study was to advance our understanding of the physiological differences between cave A. aquaticus and its surface-dwelling counterparts. We sampled two surface populations from the surface section of the sinking Pivka River (central Slovenia, Europe, i.e. locality Pivka Polje, and locality Planina Polje, and one cave population from the subterranean section of the sinking Pivka River, i.e. locality Planina Cave. Animals were sampled in spring, summer and autumn. We measured the activities of acetylcholinesterase (AChE and glutathione S-transferase (GST in individuals snap-frozen in the field immediately after collection. Acetylcholinesterase is likely related to animals' locomotor activity, while GST activity is related to the metabolic activity of an organism. Our study shows significantly lower AChE and GST activities in the cave population in comparison to both surface A. aquaticus populations. This confirms the assumption that cave A. aquaticus have lower locomotor and metabolic activity than surface A. aquaticus in their respective natural environments. In surface A. aquaticus populations, seasonal fluctuations in GST activity were observed, while these were less pronounced in individuals from the more stable cave environment. On the other hand, AChE activity was generally season-independent in all populations. To our knowledge, this is the first study of its kind conducted in A. aquaticus. Our results show that among closely related cave and surface A. aquaticus populations also physiological differences are present besides the morphological and genetic

  16. Relational mobility explains between- and within-culture differences in self-disclosure to close friends. (United States)

    Schug, Joanna; Yuki, Masaki; Maddux, William


    In the current research, we tested a novel explanation for previously demonstrated findings that East Asians disclose less personal information to other people than do Westerners. We propose that both between- and within-culture differences in self-disclosure to close friends may be explained by the construct of relational mobility, the general degree to which individuals in a society have opportunities to form new relationships and terminate old ones. In Study 1, we found that cross-cultural differences (Japan vs. United States) in self-disclosure to a close friend were mediated by individuals' perceptions of relational mobility. In Study 2, two separate measures of relational mobility predicted self-disclosure within a single culture (Japan), and this relationship was mediated by the motivation to engage in self-disclosure to strengthen personal relationships. We conclude that societies and social contexts higher in relational mobility (in which relationships can be formed and dissolved relatively easily) produce stronger incentives for self-disclosure as a social-commitment device.

  17. Genetic differentiation among sexually compatible relatives of Brassica napus L.

    Directory of Open Access Journals (Sweden)

    Pipan Barbara


    Full Text Available Analysis of gene flow between Brassica napus L. and its sexually compatible relatives that could be found in the wild in Slovenia was performed by microsatellite analysis using fifteen selected primer pairs. Genotypes included in the study were obtained from the field survey of sexually compatible relatives of B. napus in natural habitats around Slovenia and from reference collections. Two different wild species of all the presented sexually compatible relatives of B. napus were found in Slovenia, B. rapa and Sinapis arvensis. The reference genotypes included varieties and wild forms from internal collections as marketable seeds or from gene banks. Reference genotypes were represented by the following species and subspecies: B. napus ssp. napobrassica, B. napus ssp. napus, B. nigra, B. oleracea, B. rapa ssp. oleifera, Diplotaxis muralis; D. tenuifolia, Raphanus raphanistrum, R. sativus, R. sativus var. oleiformis, Rapistrum rugosum, S. alba and S. arvensis. Estimation of gene flow described by average number of migrants was 0.72 followed by 0.20 migrants. Due to the observed gene migrations, genetic drift and selection, Hardy-Weinberg equilibrium was not met. The mean number of alleles over all loci was 16.9, the average polymorphic information content was 0.43. We found four highly divergent and polymorphic loci (Na12-C08, Na10-A08, Ni3-G04b and BRMS-050 at statistically significant level (p<0.05 of gene flow detected. Over all gene diversity intra-individual among populations (0.55 was lower than inter-individual among population (0.77. The results of genetic linkages based standard genetic distance and unweighted pair group method with arithmetic mean clustering method, generally divided the genotypes in three divergent groups. Similar results were obtained by principal coordinate analysis where three main groups were constructed according to three factors. A real number of genetic clusters demonstrated a clear separation between populations

  18. Transcriptome sequencing of Crucihimalaya himalaica (Brassicaceae) reveals how Arabidopsis close relative adapt to the Qinghai-Tibet Plateau (United States)

    Qiao, Qin; Wang, Qia; Han, Xi; Guan, Yanlong; Sun, Hang; Zhong, Yang; Huang, Jinling; Zhang, Ticao


    The extreme environment of the Qinghai-Tibet Plateau (QTP) provides an ideal natural laboratory for studies on adaptive evolution. Few genome/transcriptome based studies have been conducted on how plants adapt to the environments of QTP compared to numerous studies on vertebrates. Crucihimalaya himalaica is a close relative of Arabidopsis with typical QTP distribution, and is hoped to be a new model system to study speciation and ecological adaptation in extreme environment. In this study, we de novo generated a transcriptome sequence of C. himalaica, with a total of 49,438 unigenes. Compared to five relatives, 10,487 orthogroups were shared by all six species, and 4,286 orthogroups contain putative single copy gene. Further analysis identified 487 extremely significantly positively selected genes (PSGs) in C. himalaica transcriptome. Theses PSGs were enriched in functions related to specific adaptation traits, such as response to radiation, DNA repair, nitrogen metabolism, and stabilization of membrane. These functions are responsible for the adaptation of C. himalaica to the high radiation, soil depletion and low temperature environments on QTP. Our findings indicate that C. himalaica has evolved complex strategies for adapting to the extreme environments on QTP and provide novel insights into genetic mechanisms of highland adaptation in plants.

  19. Genomic resources for gene discovery, functional genome annotation, and evolutionary studies of maize and its close relatives. (United States)

    Wang, Chao; Shi, Xue; Liu, Lin; Li, Haiyan; Ammiraju, Jetty S S; Kudrna, David A; Xiong, Wentao; Wang, Hao; Dai, Zhaozhao; Zheng, Yonglian; Lai, Jinsheng; Jin, Weiwei; Messing, Joachim; Bennetzen, Jeffrey L; Wing, Rod A; Luo, Meizhong


    Maize is one of the most important food crops and a key model for genetics and developmental biology. A genetically anchored and high-quality draft genome sequence of maize inbred B73 has been obtained to serve as a reference sequence. To facilitate evolutionary studies in maize and its close relatives, much like the Oryza Map Alignment Project (OMAP) ( bacterial artificial chromosome (BAC) resource did for the rice community, we constructed BAC libraries for maize inbred lines Zheng58, Chang7-2, and Mo17 and maize wild relatives Zea mays ssp. parviglumis and Tripsacum dactyloides. Furthermore, to extend functional genomic studies to maize and sorghum, we also constructed binary BAC (BIBAC) libraries for the maize inbred B73 and the sorghum landrace Nengsi-1. The BAC/BIBAC vectors facilitate transfer of large intact DNA inserts from BAC clones to the BIBAC vector and functional complementation of large DNA fragments. These seven Zea Map Alignment Project (ZMAP) BAC/BIBAC libraries have average insert sizes ranging from 92 to 148 kb, organellar DNA from 0.17 to 2.3%, empty vector rates between 0.35 and 5.56%, and genome equivalents of 4.7- to 8.4-fold. The usefulness of the Parviglumis and Tripsacum BAC libraries was demonstrated by mapping clones to the reference genome. Novel genes and alleles present in these ZMAP libraries can now be used for functional complementation studies and positional or homology-based cloning of genes for translational genomics.

  20. Artificial light at night affects sleep behaviour differently in two closely related songbird species. (United States)

    Sun, Jiachen; Raap, Thomas; Pinxten, Rianne; Eens, Marcel


    Artificial light at night (ALAN) or light pollution is an increasing and worldwide problem. There is growing concern that because of the disruption of natural light cycles, ALAN may pose serious risks for wildlife. While ALAN has been shown to affect many aspects of animal behaviour and physiology, few studies have experimentally studied whether individuals of different species in the wild respond differently to ALAN. Here, we investigated the effect of ALAN on sleep behaviour in two closely related songbird species inhabiting the same study area and roosting/breeding in similar nest boxes. We experimentally exposed free-living great tits (Parus major) and blue tits (Cyanistes caeruleus) to artificial light inside their nest boxes and observed changes in their sleep behaviour compared to the previous night when the nest boxes were dark. In line with previous studies, sleep behaviour of both species did not differ under dark conditions. ALAN disrupted sleep in both great and blue tits. However, compared to blue tits, great tits showed more pronounced effects and more aspects of sleep were affected. Light exposed great tits entered the nest boxes and fell asleep later, woke up and exited the nest boxes earlier, and the total sleep amount and sleep percentage were reduced. By contrast, these changes in sleep behaviour were not found in light exposed blue tits. Our field experiment, using exactly the same light manipulation in both species, provides direct evidence that two closely related species respond differently to ALAN, while their sleep behaviour under dark conditions was similar. Our research suggests that findings for one species cannot necessarily be generalised to other species, even closely-related species. Furthermore, species-specific effects could have implications for community dynamics. Copyright © 2017 Elsevier Ltd. All rights reserved.

  1. The Double Helix: Applying an Ethic of Care to the Duty to Warn Genetic Relatives of Genetic Information. (United States)

    Weaver, Meaghann


    Genetic testing reveals information about a patient's health status and predictions about the patient's future wellness, while also potentially disclosing health information relevant to other family members. With the increasing availability and affordability of genetic testing and the integration of genetics into mainstream medicine, the importance of clarifying the scope of confidentiality and the rules regarding disclosure of genetic findings to genetic relatives is prime. The United Nations International Declaration on Human Genetic Data urges an appreciation for principles of equality, justice, solidarity and responsibility in the context of genetic testing, including a commitment to honoring the privacy and security of the person tested. Considering this global mandate and recent professional statements in the context of a legal amendment to patient privacy policies in Australia, a fresh scrutiny of the legal history of a physician's duty to warn is warranted. This article inquiries whether there may be anything ethically or socially amiss with a potential future recommendation for health professionals or patients to universally disclose particular cancer predisposition genetic diagnosis to genetic family members. While much of the discussion remains applicable to all genetic diagnosis, the article focuses on the practice of disclosure within the context of BRCA1/2 diagnosis. An 'ethic of care' interpretation of legal tradition and current practice will serve to reconcile law and medical policy on the issue of physician disclosure of genetic results to family members without patient consent. © 2015 John Wiley & Sons Ltd.

  2. Genetics Home Reference: ZAP70-related severe combined immunodeficiency (United States)

    ... gene is also involved in the activation of helper T cells (CD4+ T cells). These cells direct ... genetic testing? How can I find a genetics professional in my area? Other Names for This Condition ...

  3. Species tree estimation for the late blight pathogen, Phytophthora infestans, and close relatives.

    Directory of Open Access Journals (Sweden)

    Jaime E Blair

    Full Text Available To better understand the evolutionary history of a group of organisms, an accurate estimate of the species phylogeny must be known. Traditionally, gene trees have served as a proxy for the species tree, although it was acknowledged early on that these trees represented different evolutionary processes. Discordances among gene trees and between the gene trees and the species tree are also expected in closely related species that have rapidly diverged, due to processes such as the incomplete sorting of ancestral polymorphisms. Recently, methods have been developed for the explicit estimation of species trees, using information from multilocus gene trees while accommodating heterogeneity among them. Here we have used three distinct approaches to estimate the species tree for five Phytophthora pathogens, including P. infestans, the causal agent of late blight disease in potato and tomato. Our concatenation-based "supergene" approach was unable to resolve relationships even with data from both the nuclear and mitochondrial genomes, and from multiple isolates per species. Our multispecies coalescent approach using both Bayesian and maximum likelihood methods was able to estimate a moderately supported species tree showing a close relationship among P. infestans, P. andina, and P. ipomoeae. The topology of the species tree was also identical to the dominant phylogenetic history estimated in our third approach, Bayesian concordance analysis. Our results support previous suggestions that P. andina is a hybrid species, with P. infestans representing one parental lineage. The other parental lineage is not known, but represents an independent evolutionary lineage more closely related to P. ipomoeae. While all five species likely originated in the New World, further study is needed to determine when and under what conditions this hybridization event may have occurred.

  4. Species tree estimation for the late blight pathogen, Phytophthora infestans, and close relatives. (United States)

    Blair, Jaime E; Coffey, Michael D; Martin, Frank N


    To better understand the evolutionary history of a group of organisms, an accurate estimate of the species phylogeny must be known. Traditionally, gene trees have served as a proxy for the species tree, although it was acknowledged early on that these trees represented different evolutionary processes. Discordances among gene trees and between the gene trees and the species tree are also expected in closely related species that have rapidly diverged, due to processes such as the incomplete sorting of ancestral polymorphisms. Recently, methods have been developed for the explicit estimation of species trees, using information from multilocus gene trees while accommodating heterogeneity among them. Here we have used three distinct approaches to estimate the species tree for five Phytophthora pathogens, including P. infestans, the causal agent of late blight disease in potato and tomato. Our concatenation-based "supergene" approach was unable to resolve relationships even with data from both the nuclear and mitochondrial genomes, and from multiple isolates per species. Our multispecies coalescent approach using both Bayesian and maximum likelihood methods was able to estimate a moderately supported species tree showing a close relationship among P. infestans, P. andina, and P. ipomoeae. The topology of the species tree was also identical to the dominant phylogenetic history estimated in our third approach, Bayesian concordance analysis. Our results support previous suggestions that P. andina is a hybrid species, with P. infestans representing one parental lineage. The other parental lineage is not known, but represents an independent evolutionary lineage more closely related to P. ipomoeae. While all five species likely originated in the New World, further study is needed to determine when and under what conditions this hybridization event may have occurred.

  5. Genetic disparity and relationship among quantitatively inherited yield related traits in diallel crosses of upland cotton

    International Nuclear Information System (INIS)

    Bibi, M.; Khan, N.U.; Mohammad, F.; Gul, R.; Idrees, M.; Sayal, O.U.; Khakwani, A.A.; Khan, I.A.


    In quantitative genetics, development of high yielding genotypes from parental cultivars of same ancestry is some what confusing as compared to genetically diverse parents. However, sufficient recombinations through allelic variations in mating of closely-related populations result in superior agronomic performance. Development of improved cotton genotypes is one of the prime objectives of any cotton breeding programmes. Genetic divergence and yield potential of parental cotton genotypes versus their diallel hybrids, relationship of yield with various morpho-yield traits and their heritability were studied in 8 X 8 F/sub 1/ diallel hybrids and their parental cultivars in Gossypium hirsutum L. during 2008-09 at Khyber Pakhtunkhwa Agricultural University, Peshawar, Pakistan. Highly significant (p less than or equal to 0.01) differences were observed among parental genotypes and F/sub 1/ populations for all the traits. Results revealed that F/sub 1/ hybrids i.e., CIM-506 X CIM-554, CIM-473 X CIM-554, CIM-446 X CIM-496 and CIM-446 X CIM-554 produced significantly higher number of sympodia, bolls per populations showed incredible performance for plant height, locules per boll and seeds plant and seed cotton yield. Some F/sub 1/ per locule. Seed cotton yield manifested positive association with morpho-yield traits which also accounted for greater genetic variations to yield being dependent trait. Heritabilities (broad sense) were moderate to high in magnitude for all populations with larger genetic potential, positive relationship between yield and yield traits. Results revealed that F1 contributing traits and moderate to high heritability can guide intensive selection and improvement per se in segregating populations. (author)

  6. Floral nectary, nectar production dynamics, and floral reproductive isolation among closely related species of Pedicularis. (United States)

    Liu, Ya-Nan; Li, Yan; Yang, Fu-Sheng; Wang, Xiao-Quan


    Floral nectar is thought to be one of the most important rewards that attract pollinators in Pedicularis; however, few studies have examined variation of nectary structure and/or nectar secretion in the genus, particularly among closely related species. Here we investigated nectary morphology, nectar quality, and nectar production dynamics in flowers of Pedicularis section Cyathophora. We found a conical floral nectary at the base of the ovary in species of the rex-thamnophila clade. Stomata were found on the surface of the nectary, and copious starch grains were detected in the nectary tissues. In contrast, a semi-annular nectary was found in flowers of the species of the superba clade. Only a few starch grains were observed in tissues of the semi-annular nectary, and the nectar sugar concentration in these flowers was much lower than that in the flowers of the rex-thamnophila clade. Our results indicate that the floral nectary has experienced considerable morphological, structural, and functional differentiation among closely related species of Pedicularis. This could have affected nectar production, leading to a shift of the pollination mode. Our results also imply that variation of the nectary morphology and nectar production may have played an important role in the speciation of sect. Cyathophora. © 2015 Institute of Botany, Chinese Academy of Sciences.

  7. PSP: rapid identification of orthologous coding genes under positive selection across multiple closely related prokaryotic genomes. (United States)

    Su, Fei; Ou, Hong-Yu; Tao, Fei; Tang, Hongzhi; Xu, Ping


    With genomic sequences of many closely related bacterial strains made available by deep sequencing, it is now possible to investigate trends in prokaryotic microevolution. Positive selection is a sub-process of microevolution, in which a particular mutation is favored, causing the allele frequency to continuously shift in one direction. Wide scanning of prokaryotic genomes has shown that positive selection at the molecular level is much more frequent than expected. Genes with significant positive selection may play key roles in bacterial adaption to different environmental pressures. However, selection pressure analyses are computationally intensive and awkward to configure. Here we describe an open access web server, which is designated as PSP (Positive Selection analysis for Prokaryotic genomes) for performing evolutionary analysis on orthologous coding genes, specially designed for rapid comparison of dozens of closely related prokaryotic genomes. Remarkably, PSP facilitates functional exploration at the multiple levels by assignments and enrichments of KO, GO or COG terms. To illustrate this user-friendly tool, we analyzed Escherichia coli and Bacillus cereus genomes and found that several genes, which play key roles in human infection and antibiotic resistance, show significant evidence of positive selection. PSP is freely available to all users without any login requirement at: PSP ultimately allows researchers to do genome-scale analysis for evolutionary selection across multiple prokaryotic genomes rapidly and easily, and identify the genes undergoing positive selection, which may play key roles in the interactions of host-pathogen and/or environmental adaptation.

  8. Language Adaptation for Extending Post-Editing Estimates for Closely Related Languages

    Directory of Open Access Journals (Sweden)

    Rios Miguel


    Full Text Available This paper presents an open-source toolkit for predicting human post-editing efforts for closely related languages. At the moment, training resources for the Quality Estimation task are available for very few language directions and domains. Available resources can be expanded on the assumption that MT errors and the amount of post-editing required to correct them are comparable across related languages, even if the feature frequencies differ. In this paper we report a toolkit for achieving language adaptation, which is based on learning new feature representation using transfer learning methods. In particular, we report performance of a method based on Self-Taught Learning which adapts the English-Spanish pair to produce Quality Estimation models for translation from English into Portuguese, Italian and other Romance languages using the publicly available Autodesk dataset.

  9. Closely-related Borrelia burgdorferi (sensu stricto) strains exhibit similar fitness in single infections and asymmetric competition in multiple infections. (United States)

    Rynkiewicz, Evelyn C; Brown, Julia; Tufts, Danielle M; Huang, Ching-I; Kampen, Helge; Bent, Stephen J; Fish, Durland; Diuk-Wasser, Maria A


    Wild hosts are commonly co-infected with complex, genetically diverse, pathogen communities. Competition is expected between genetically or ecologically similar pathogen strains which may influence patterns of coexistence. However, there is little data on how specific strains of these diverse pathogen species interact within the host and how this impacts pathogen persistence in nature. Ticks are the most common disease vector in temperate regions with Borrelia burgdorferi, the causative agent of Lyme disease, being the most common vector-borne pathogen in North America. Borrelia burgdorferi is a pathogen of high public health concern and there is significant variation in infection phenotype between strains, which influences predictions of pathogen dynamics and spread. In a laboratory experiment, we investigated whether two closely-related strains of B. burgdorferi (sensu stricto) showed similar transmission phenotypes, how the transmission of these strains changed when a host was infected with one strain, re-infected with the same strain, or co-infected with two strains. Ixodes scapularis, the black-legged tick, nymphs were used to sequentially infect laboratory-bred Peromyscus leucopus, white-footed mice, with one strain only, homologous infection with the same stain, or heterologous infection with both strains. We used the results of this laboratory experiment to simulate long-term persistence and maintenance of each strain in a simple simulation model. Strain LG734 was more competitive than BL206, showing no difference in transmission between the heterologous infection groups and single-infection controls, while strain BL206 transmission was significantly reduced when strain LG734 infected first. The results of the model show that this asymmetry in competition could lead to extinction of strain BL206 unless there was a tick-to-host transmission advantage to this less competitive strain. This asymmetric competitive interaction suggests that strain identity and

  10. On the relation between gene flow theory and genetic gain

    Directory of Open Access Journals (Sweden)

    Woolliams John A


    Full Text Available Abstract In conventional gene flow theory the rate of genetic gain is calculated as the summed products of genetic selection differential and asymptotic proportion of genes deriving from sex-age groups. Recent studies have shown that asymptotic proportions of genes predicted from conventional gene flow theory may deviate considerably from true proportions. However, the rate of genetic gain predicted from conventional gene flow theory was accurate. The current note shows that the connection between asymptotic proportions of genes and rate of genetic gain that is embodied in conventional gene flow theory is invalid, even though genetic gain may be predicted correctly from it.

  11. Development and characterization of microsatellite markers for Morus spp. and assessment of their transferability to other closely related species (United States)


    Background Adoption of genomics based breeding has emerged as a promising approach for achieving comprehensive crop improvement. Such an approach is more relevant in the case of perennial species like mulberry. However, unavailability of genomic resources of co-dominant marker systems has been the major constraint for adopting molecular breeding to achieve genetic enhancement of Mulberry. The goal of this study was to develop and characterize a large number of locus specific genic and genomic SSR markers which can be effectively used for molecular characterization of mulberry species/genotypes. Result We analyzed a total of 3485 DNA sequences including genomic and expressed sequences (ESTs) of mulberry (Morus alba L.) genome. We identified 358 sequences to develop appropriate microsatellite primer pairs representing 222 genomic and 136 EST regions. Primers amplifying locus specific regions of Dudia white (a genotype of Morus alba L), were identified and 137 genomic and 51 genic SSR markers were standardized. A two pronged strategy was adopted to assess the applicability of these SSR markers using mulberry species and genotypes along with a few closely related species belonging to the family Moraceae viz., Ficus, Fig and Jackfruit. While 100% of these markers amplified specific loci on the mulberry genome, 79% were transferable to other related species indicating the robustness of these markers and the potential they hold in analyzing the molecular and genetic diversity among mulberry germplasm as well as other related species. The inherent ability of these markers in detecting heterozygosity combined with a high average polymorphic information content (PIC) of 0.559 ranging between 0.076 and 0.943 clearly demonstrates their potential as genomic resources in diversity analysis. The dissimilarity coefficient determined based on Neighbor joining method, revealed that the markers were successful in segregating the mulberry species, genotypes and other related species

  12. [Identification and analysis of Corydalis boweri, Meconopsis horridula and their close related species of the same genus by using ITS2 DNA barcode]. (United States)

    Dou, Rong-kun; Bi, Zhen-fei; Bai, Rui-xue; Ren, Yao-yao; Tan, Rui; Song, Liang-ke; Li, Di-qiang; Mao, Can-quan


    The study is aimed to ensure the quality and safety of medicinal plants by using ITS2 DNA barcode technology to identify Corydalis boweri, Meconopsis horridula and their close related species. The DNA of 13 herb samples including C. boweri and M. horridula from Lhasa of Tibet was extracted, ITS PCR were amplified and sequenced. Both assembled and web downloaded 71 ITS2 sequences were removed of 5. 8S and 28S. Multiple sequence alignment was completed and the intraspecific and interspecific genetic distances were calculated by MEGA 5.0, while the neighbor-joining phylogenetic trees were constructed. We also predicted the ITS2 secondary structure of C. boweri, M. horridula and their close related species. The results showed that ITS2 as DNA barcode was able to identify C. boweri, M. horridula as well as well as their close related species effectively. The established based on ITS2 barcode method provides the regular and safe detection technology for identification of C. boweri, M. horridula and their close related species, adulterants and counterfeits, in order to ensure their quality control, safe medication, reasonable development and utilization.

  13. A Murine Herpesvirus Closely Related to Ubiquitous Human Herpesviruses Causes T-Cell Depletion. (United States)

    Patel, Swapneel J; Zhao, Guoyan; Penna, Vinay R; Park, Eugene; Lauron, Elvin J; Harvey, Ian B; Beatty, Wandy L; Plougastel-Douglas, Beatrice; Poursine-Laurent, Jennifer; Fremont, Daved H; Wang, David; Yokoyama, Wayne M


    The human roseoloviruses human herpesvirus 6A (HHV-6A), HHV-6B, and HHV-7 comprise the Roseolovirus genus of the human Betaherpesvirinae subfamily. Infections with these viruses have been implicated in many diseases; however, it has been challenging to establish infections with roseoloviruses as direct drivers of pathology, because they are nearly ubiquitous and display species-specific tropism. Furthermore, controlled study of infection has been hampered by the lack of experimental models, and until now, a mouse roseolovirus has not been identified. Herein we describe a virus that causes severe thymic necrosis in neonatal mice, characterized by a loss of CD4 + T cells. These phenotypes resemble those caused by the previously described mouse thymic virus (MTV), a putative herpesvirus that has not been molecularly characterized. By next-generation sequencing of infected tissue homogenates, we assembled a contiguous 174-kb genome sequence containing 128 unique predicted open reading frames (ORFs), many of which were most closely related to herpesvirus genes. Moreover, the structure of the virus genome and phylogenetic analysis of multiple genes strongly suggested that this virus is a betaherpesvirus more closely related to the roseoloviruses, HHV-6A, HHV-6B, and HHV-7, than to another murine betaherpesvirus, mouse cytomegalovirus (MCMV). As such, we have named this virus murine roseolovirus (MRV) because these data strongly suggest that MRV is a mouse homolog of HHV-6A, HHV-6B, and HHV-7. IMPORTANCE Herein we describe the complete genome sequence of a novel murine herpesvirus. By sequence and phylogenetic analyses, we show that it is a betaherpesvirus most closely related to the roseoloviruses, human herpesviruses 6A, 6B, and 7. These data combined with physiological similarities with human roseoloviruses collectively suggest that this virus is a murine roseolovirus (MRV), the first definitively described rodent roseolovirus, to our knowledge. Many biological and

  14. The Role of Documentation Quality in Anesthesia-Related Closed Claims: A Descriptive Qualitative Study. (United States)

    Wilbanks, Bryan A; Geisz-Everson, Marjorie; Boust, Rebecca R


    Clinical documentation is a critical tool in supporting care provided to patients. Sound documentation provides a picture of clinical events that can be used to improve patient care. However, many other uses for clinical documentation are equally important. Such documentation informs clinical decision support tools, creates a legal record of patient care, assists in financial reimbursement of services, and serves as a repository for secondary data analysis. Conversely, poor documentation can impair patient safety and increase malpractice risk exposure by reflecting poor or inaccurate information that ultimately may guide patient care decisions.Through an examination of anesthesia-related closed claims, a descriptive qualitative study emerged, which explored the antecedents and consequences of documentation quality in the claims reviewed. A secondary data analysis utilized a database generated by the American Association of Nurse Anesthetists Foundation closed claim review team. Four major themes emerged from the analysis. Themes 1, 2, and 4 primarily describe how poor documentation quality can have negative consequences for clinicians. The third theme primarily describes how poor documentation quality that can negatively affect patient safety.

  15. A population study of killer viruses reveals different evolutionary histories of two closely related Saccharomyces sensu stricto yeasts. (United States)

    Chang, Shang-Lin; Leu, Jun-Yi; Chang, Tien-Hsien


    Microbes have evolved ways of interference competition to gain advantage over their ecological competitors. The use of secreted killer toxins by yeast cells through acquiring double-stranded RNA viruses is one such prominent example. Although the killer behaviour has been well studied in laboratory yeast strains, our knowledge regarding how killer viruses are spread and maintained in nature and how yeast cells co-evolve with viruses remains limited. We investigated these issues using a panel of 81 yeast populations belonging to three Saccharomyces sensu stricto species isolated from diverse ecological niches and geographic locations. We found that killer strains are rare among all three species. In contrast, killer toxin resistance is widespread in Saccharomyces paradoxus populations, but not in Saccharomyces cerevisiae or Saccharomyces eubayanus populations. Genetic analyses revealed that toxin resistance in S. paradoxus is often caused by dominant alleles that have independently evolved in different populations. Molecular typing identified one M28 and two types of M1 killer viruses in those killer strains. We further showed that killer viruses of the same type could lead to distinct killer phenotypes under different host backgrounds, suggesting co-evolution between the viruses and hosts in different populations. Taken together, our data suggest that killer viruses vary in their evolutionary histories even within closely related yeast species. © 2015 John Wiley & Sons Ltd.

  16. Aspergillus waksmanii sp. nov. and Aspergillus marvanovae sp. nov., two closely related species in section Fumigati

    DEFF Research Database (Denmark)

    Hubka, Vit; Peterson, Stephen W.; Frisvad, Jens Christian


    Two new and phylogenetically closely related species in Aspergillus section Fumigati are described and illustrated. Homothallic Aspergillus waksmanii sp. nov. was isolated from New Jersey soil (USA) and is represented by the ex-type isolate NRRL 179T (=CCF 4266T=Thom 4138.HS2T=IBT 31900T......). Aspergillus marvanovae sp. nov. was isolated from water with high boracic acid anions content in Dukovany nuclear power station (Czech Republic). The sexual stage of this species is unknown, but the MAT1-1 locus was successfully amplified suggesting that the species is probably heterothallic and teleomorphic...... but is represented by only the ex-type isolate CCM 8003T (=CCF 4037T=NRRL 62486T=IBT 31279T=IFM 60873T). Both species can be distinguished from all previously described species in section Fumigati based on morphology, maximum growth temperature, sequence data from five unlinked loci and unique secondary metabolites...

  17. Closely related freshwater macrophyte species, Ceratophyllum demersum and C. submersum, differ in temperature response

    DEFF Research Database (Denmark)

    Hyldgaard, Benita; Sorrell, Brian Keith; Brix, Hans


    1. The importance of temperature responses of photosynthesis and respiration in determining species distributions was compared in two closely related freshwater macrophytes, Ceratophyllum demersum and C. submersum. The two species differed significantly in response to temperature in the short...... and distributional patterns corresponded well with the long-term (weeks) results obtained, but with some important deviations. The long-term responses of the two species to low temperature (12 °C) were more similar than expected. In contrast, high temperature (35 °C), which stimulated photosynthesis in C. submersum...... in the short term, inhibited photosynthesis in the long term and resulted in lower growth rates of C. submersum, both compared to C. demersum and to growth rates at intermediate temperatures (18 and 25 °C). 3. The long-term acclimation strategy differed between the two species. Ceratophyllum demersum achieved...

  18. The giant zooxanthellae-bearing ciliate Maristentor dinoferus (Heterotrichea) is closely related to folliculinidae. (United States)

    Miao, Wei; Simpson, Alastair G B; Fu, Chengjie; Lobban, Christopher S


    The small subunit rDNA sequence of Maristentor dinoferus (Lobban, Schefter, Simpson, Pochon, Pawlowski, and Foissner, 2002) was determined and compared with sequences from other Heterotrichea and Karyorelictea. Maristentor resembles Stentor in basic morphology and had been provisionally assigned to Stentoridae. However, our phylogenetic analyses show that Maristentor is more closely related to Folliculinidae. Our results support the creation of a separate family for Maristentor, Maristentoridae n. fam., and also confirm the phylogenetic grouping of Folliculindae, Stentoridae, Blepharismidae, and Maristentoridae, which we informally call 'stentorids'. Maristentor, rather than Stentor itself, appears to be most significant in understanding the origins of folliculinids from their aloricate ancestors. Our analyses suggest continued uncertainty in the exact placement of the root of heterotrichs with this phylogenetic marker.

  19. Serological cross-reactivity between Merkel cell polyomavirus and two closely related chimpanzee polyomaviruses.

    Directory of Open Access Journals (Sweden)

    Jérôme T J Nicol

    Full Text Available Phylogenetic analyses based on the major capsid protein sequence indicate that Merkel cell polyomavirus (MCPyV and chimpanzee polyomaviruses (PtvPyV1, PtvPyV2, and similarly Trichodysplasia spinulosa-associated polyomavirus (TSPyV and the orangutan polyomavirus (OraPyV1 are closely related. The existence of cross-reactivity between these polyomaviruses was therefore investigated. The findings indicated serological identity between the two chimpanzee polyomaviruses investigated and a high level of cross-reactivity with Merkel cell polyomavirus. In contrast, cross-reactivity was not observed between TSPyV and OraPyV1. Furthermore, specific antibodies to chimpanzee polyomaviruses were detected in chimpanzee sera by pre-incubation of sera with the different antigens, but not in human sera.

  20. Non-commercial surrogacy among close relatives in Vietnam: policy and ethical implications. (United States)

    Hibino, Yuri


    Altruistic surrogacy among close relatives has been legal in Vietnam since the beginning of 2015. Following the revision of the Marriage and Family Law, there have been dozens of cases of surrogacy, and instances of successful pregnancy and childbirth have also been reported. Although surrogacy was completely prohibited in 2003, numerous local brokers offered commercial surrogacy services. Today, surrogacy is permitted under very limited conditions, and commercial surrogacy is prohibited. However, brokers continue to offer illegal commercial surrogacy services, and some even present its incidence may be increasing. In terms of women's roles, Vietnamese society places the highest value on motherhood, and childless couples are stigmatized. Thus, the demand for surrogates is high in Vietnam, rendering it difficult for family members to meet the needs of all those seeking these services. This article considers the consequences and implications of the new surrogacy policy in Vietnam based on field research.

  1. Chromatographic resolution of closely related species in pharmaceutical chemistry: dehalogenation impurities and mixtures of halogen isomers. (United States)

    Regalado, Erik L; Zhuang, Ping; Chen, Yadan; Makarov, Alexey A; Schafer, Wes A; McGachy, Neil; Welch, Christopher J


    In recent years, the use of halogen-containing molecules has proliferated in the pharmaceutical industry, where the incorporation of halogens, especially fluorine, has become vitally important for blocking metabolism and enhancing the biological activity of pharmaceuticals. The chromatographic separation of halogen-containing pharmaceuticals from associated isomers or dehalogenation impurities can sometimes be quite difficult. In an attempt to identify the best current tools available for addressing this important problem, a survey of the suitability of four chromatographic method development platforms (ultra high-performance liquid chromatography (UHPLC), core shell HPLC, achiral supercritical fluid chromatography (SFC) and chiral SFC) for separating closely related mixtures of halogen-containing pharmaceuticals and their dehalogenated isosteres is described. Of the 132 column and mobile phase combinations examined for each mixture, a small subset of conditions were found to afford the best overall performance, with a single UHPLC method (2.1 × 50 mm, 1.9 μm Hypersil Gold PFP, acetonitrile/methanol based aqueous eluents containing either phosphoric or perchloric acid with 150 mM sodium perchlorate) affording excellent separation for all samples. Similarly, a survey of several families of closely related halogen-containing small molecules representing the diversity of impurities that can sometimes be found in purchased starting materials for synthesis revealed chiral SFC (Chiralcel OJ-3 and Chiralpak IB, isopropanol or ethanol with 25 mM isobutylamine/carbon dioxide) as well as the UHPLC (2.1 × 50 mm, 1.8 μm ZORBAX RRHD Eclipse Plus C18 and the Gold PFP, acetonitrile/methanol based aqueous eluents containing phosphoric acid) as preferred methods.

  2. Inter- and intra-guild interactions related to aphids in nettle (Urtica dioica L.) strips closed to field crops.


    Alhmedi, A.; Haubruge, Eric; Bodson, Bernard; Francis, Frédéric


    A field experiment designed to assess the biodiversity related to nettle strips closed to crops, and more particularly the aphid and related beneficial populations, was established in experimental farm located in Gembloux (Belgium). Margin strips of nettle (Urtica dioica) closed to wheat (Triticum aestivum), green pea (Pisum sativum) and rape (Brassicae napus) fields were investigated. The diversity, abundance of aphids and related predators were analysed according to the plant crop species a...

  3. The Dynamic Genome and Transcriptome of the Human Fungal Pathogen Blastomyces and Close Relative Emmonsia.

    Directory of Open Access Journals (Sweden)

    José F Muñoz


    Full Text Available Three closely related thermally dimorphic pathogens are causal agents of major fungal diseases affecting humans in the Americas: blastomycosis, histoplasmosis and paracoccidioidomycosis. Here we report the genome sequence and analysis of four strains of the etiological agent of blastomycosis, Blastomyces, and two species of the related genus Emmonsia, typically pathogens of small mammals. Compared to related species, Blastomyces genomes are highly expanded, with long, often sharply demarcated tracts of low GC-content sequence. These GC-poor isochore-like regions are enriched for gypsy elements, are variable in total size between isolates, and are least expanded in the avirulent B. dermatitidis strain ER-3 as compared with the virulent B. gilchristii strain SLH14081. The lack of similar regions in related species suggests these isochore-like regions originated recently in the ancestor of the Blastomyces lineage. While gene content is highly conserved between Blastomyces and related fungi, we identified changes in copy number of genes potentially involved in host interaction, including proteases and characterized antigens. In addition, we studied gene expression changes of B. dermatitidis during the interaction of the infectious yeast form with macrophages and in a mouse model. Both experiments highlight a strong antioxidant defense response in Blastomyces, and upregulation of dioxygenases in vivo suggests that dioxide produced by antioxidants may be further utilized for amino acid metabolism. We identify a number of functional categories upregulated exclusively in vivo, such as secreted proteins, zinc acquisition proteins, and cysteine and tryptophan metabolism, which may include critical virulence factors missed before in in vitro studies. Across the dimorphic fungi, loss of certain zinc acquisition genes and differences in amino acid metabolism suggest unique adaptations of Blastomyces to its host environment. These results reveal the dynamics

  4. The Dynamic Genome and Transcriptome of the Human Fungal Pathogen Blastomyces and Close Relative Emmonsia. (United States)

    Muñoz, José F; Gauthier, Gregory M; Desjardins, Christopher A; Gallo, Juan E; Holder, Jason; Sullivan, Thomas D; Marty, Amber J; Carmen, John C; Chen, Zehua; Ding, Li; Gujja, Sharvari; Magrini, Vincent; Misas, Elizabeth; Mitreva, Makedonka; Priest, Margaret; Saif, Sakina; Whiston, Emily A; Young, Sarah; Zeng, Qiandong; Goldman, William E; Mardis, Elaine R; Taylor, John W; McEwen, Juan G; Clay, Oliver K; Klein, Bruce S; Cuomo, Christina A


    Three closely related thermally dimorphic pathogens are causal agents of major fungal diseases affecting humans in the Americas: blastomycosis, histoplasmosis and paracoccidioidomycosis. Here we report the genome sequence and analysis of four strains of the etiological agent of blastomycosis, Blastomyces, and two species of the related genus Emmonsia, typically pathogens of small mammals. Compared to related species, Blastomyces genomes are highly expanded, with long, often sharply demarcated tracts of low GC-content sequence. These GC-poor isochore-like regions are enriched for gypsy elements, are variable in total size between isolates, and are least expanded in the avirulent B. dermatitidis strain ER-3 as compared with the virulent B. gilchristii strain SLH14081. The lack of similar regions in related species suggests these isochore-like regions originated recently in the ancestor of the Blastomyces lineage. While gene content is highly conserved between Blastomyces and related fungi, we identified changes in copy number of genes potentially involved in host interaction, including proteases and characterized antigens. In addition, we studied gene expression changes of B. dermatitidis during the interaction of the infectious yeast form with macrophages and in a mouse model. Both experiments highlight a strong antioxidant defense response in Blastomyces, and upregulation of dioxygenases in vivo suggests that dioxide produced by antioxidants may be further utilized for amino acid metabolism. We identify a number of functional categories upregulated exclusively in vivo, such as secreted proteins, zinc acquisition proteins, and cysteine and tryptophan metabolism, which may include critical virulence factors missed before in in vitro studies. Across the dimorphic fungi, loss of certain zinc acquisition genes and differences in amino acid metabolism suggest unique adaptations of Blastomyces to its host environment. These results reveal the dynamics of genome evolution

  5. Issues related to the use of genetic material and information. (United States)

    Giarelli, E; Jacobs, L A


    To review issues regarding the use of genetic materials and information. Professional literature, regional and federal legislation. An analysis is provided of the relationship among advances in genetic technology, use of genetic material and information, and the development of laws that protect the interests of donors, researchers, and insurers. Rapid technological achievements have generated complex questions that are difficult to answer. The Human Genome Project began and the scientific discoveries were put to use before adequate professional and public debate on the ethical, legal, social, and clinical issues. The term "proper use" of genetic material and information is not defined consistently. An incomplete patchwork of protective state and federal legislation exists. Many complicated issues surround the use and potential misuse of genetic material and information. Rapidly advancing technology in genetics makes it difficult for regulations that protect individuals and families to keep pace. Oncology nurses need to recognize their role as change agents, understand genetic technology, and advocate for patients by participating in the debate on the proper use and prevention of misuse of genetic material and information.

  6. Differential regulation of two closely related integrative and conjugative elements from Streptococcus thermophilus

    Directory of Open Access Journals (Sweden)

    Carraro Nicolas


    Full Text Available Abstract Background Two closely related ICEs, ICESt1 and ICESt3, have been identified in the lactic acid bacterium Streptococcus thermophilus. While their conjugation and recombination modules are almost identical (95% nucleotide identity and their regulation modules related, previous work has demonstrated that transconjugants carrying ICESt3 were generated at rate exceeding by a 1000 factor that of ICESt1. Results The functional regulation of ICESt1 and ICESt3 transcription, excision and replication were investigated under different conditions (exponential growth or stationary phase, DNA damage by exposition to mitomycin C. Analysis revealed an identical transcriptional organization of their recombination and conjugation modules (long unique transcript whereas the transcriptional organization of their regulation modules were found to be different (two operons in ICESt1 but only one in ICESt3 and to depend on the conditions (promoter specific of stationary phase in ICESt3. For both elements, stationary phase and DNA damage lead to the rise of transcript levels of the conjugation-recombination and regulation modules. Whatever the growth culture conditions, excision of ICESt1 was found to be lower than that of ICESt3, which is consistent with weaker transfer frequencies. Furthermore, for both elements, excision increases in stationary phase (8.9-fold for ICESt1 and 1.31-fold for ICESt3 and is strongly enhanced by DNA damage (38-fold for ICESt1 and 18-fold for ICESt3. Although ICEs are generally not described as replicative elements, the copy number of ICESt3 exhibited a sharp increase (9.6-fold after mitomycin C exposure of its harboring strain CNRZ385. This result was not observed when ICESt3 was introduced in a strain deriving ICESt1 host strain CNRZ368, deleted for this element. This finding suggests an impact of the host cell on ICE behavior. Conclusions All together, these results suggest a novel mechanism of regulation shared by ICESt1

  7. Migratory New World blackbirds (icterids are more neophobic than closely related resident icterids.

    Directory of Open Access Journals (Sweden)

    Claudia Mettke-Hofmann

    Full Text Available Environments undergo short-term and long-term changes due to natural or human-induced events. Animals differ in their ability to cope with such changes which can be related to their ecology. Changes in the environment often elicit avoidance reactions (neophobia which protect animals from dangerous situations but can also inhibit exploration and familiarization with novel situations and thus, learning about new resources. Studies investigating the relationship between a species' ecology and its neophobia have so far been restricted to comparing only a few species and mainly in captivity. The current study investigated neophobia reactions to experimentally-induced changes in the natural environment of six closely-related blackbird species (Icteridae, including two species represented by two distinct populations. For analyses, neophobic reactions (difference in number of birds feeding and time spent feeding with and without novel objects were related to several measures of ecological plasticity and the migratory strategy (resident or migratory of the population. Phylogenetic relationships were incorporated into the analysis. The degree of neophobia was related to migratory strategy with migrants expressing much higher neophobia (fewer birds feeding and for a shorter time with objects present than residents. Furthermore, neophobia showed a relationship to diet breadth with fewer individuals of diet generalists than specialists returning when objects were present supporting the dangerous niche hypothesis. Residents may have evolved lower neophobia as costs of missing out on opportunities may be higher for residents than migrants as the former are restricted to a smaller area. Lower neophobia allows them approaching changes in the environment (e.g. novel objects quickly, thereby securing access to resources. Additionally, residents have a greater familiarity with similar situations in the area than migrants and the latter may, therefore, initially

  8. Phenology, growth, and fecundity as determinants of distribution in closely related nonnative taxa (United States)

    Marushia, Robin G.; Brooks, Matthew L.; Holt, Jodie S.


    Invasive species researchers often ask: Why do some species invade certain habitats while others do not? Ecological theories predict that taxonomically related species may invade similar habitats, but some related species exhibit contrasting invasion patterns. Brassica nigra, Brassica tournefortii, and Hirschfeldia incana are dominant, closely related nonnative species that have overlapping, but dissimilar, distributions. Brassica tournefortii is rapidly spreading in warm deserts of the southwestern United States, whereas B. nigra and H. incana are primarily limited to semiarid and mesic regions. We compared traits of B. tournefortii that might confer invasiveness in deserts with those of related species that have not invaded desert ecosystems. Brassica tournefortii, B. nigra and H. incana were compared in controlled experiments conducted outdoors in a mesic site (Riverside, CA) and a desert site (Blue Diamond, NV), and in greenhouses, over 3 yr. Desert and mesic B. tournefortii populations were also compared to determine whether locally adapted ecotypes contribute to desert invasion. Experimental variables included common garden sites and soil water availability. Response variables included emergence, growth, phenology, and reproduction. There was no evidence for B. tournefortii ecotypes, but B. tournefortii had a more rapid phenology than B. nigra or H. incana. Brassica tournefortii was less affected by site and water availability than B. nigra and H. incana, but was smaller and less fecund regardless of experimental conditions. Rapid phenology allows B. tournefortii to reproduce consistently under variable, stressful conditions such as those found in Southwestern deserts. Although more successful in milder, mesic ecosystems, B. nigra and H. incana may be limited by their ability to reproduce under desert conditions. Rapid phenology and drought response partition invasion patterns of nonnative mustards along a gradient of aridity in the southwestern United States

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

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


    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.

  10. Geography of genetic differentiation in the barley wild relative Hordeum vulgare subsp. spontaneum in Jordan (United States)

    Informed collecting, conservation, monitoring and utilization of genetic diversity require knowledge of the distribution and structure of genetic variation occurring in a species. Hordeum vulgare subsp. spontaneum (K. Koch) Thell., a primary wild relative of barley, is an important source of genetic...

  11. Assembly of inflammation-related genes for pathway-focused genetic analysis.

    Directory of Open Access Journals (Sweden)

    Matthew J Loza


    Full Text Available Recent identifications of associations between novel variants in inflammation-related genes and several common diseases emphasize the need for systematic evaluations of these genes in disease susceptibility. Considering that many genes are involved in the complex inflammation responses and many genetic variants in these genes have the potential to alter the functions and expression of these genes, we assembled a list of key inflammation-related genes to facilitate the identification of genetic associations of diseases with an inflammation-related etiology. We first reviewed various phases of inflammation responses, including the development of immune cells, sensing of danger, influx of cells to sites of insult, activation and functional responses of immune and non-immune cells, and resolution of the immune response. Assisted by the Ingenuity Pathway Analysis, we then identified 17 functional sub-pathways that are involved in one or multiple phases. This organization would greatly increase the chance of detecting gene-gene interactions by hierarchical clustering of genes with their functional closeness in a pathway. Finally, as an example application, we have developed tagging single nucleotide polymorphism (tSNP arrays for populations of European and African descent to capture all the common variants of these key inflammation-related genes. Assays of these tSNPs have been designed and assembled into two Affymetrix ParAllele customized chips, one each for European (12,011 SNPs and African (21,542 SNPs populations. These tSNPs have greater coverage for these inflammation-related genes compared to the existing genome-wide arrays, particularly in the African population. These tSNP arrays can facilitate systematic evaluation of inflammation pathways in disease susceptibility. For additional applications, other genotyping platforms could also be employed. For existing genome-wide association data, this list of key inflammation-related genes and

  12. Genetic architecture of plasma adiponectin overlaps with the genetics of metabolic syndrome-related traits

    NARCIS (Netherlands)

    P. Henneman (Peter); Y.S. Aulchenko (Yurii); R.R. Frants (Rune); I.V. Zorkoltseva (Irina); M.C. Zillikens (Carola); M. Frölich (Marijke); B.A. Oostra (Ben); J.A.P. Willems van Dijk (Ko); P. Tikka-Kleemola (Päivi)


    textabstractOBJECTIVE - Adiponectin, a hormone secreted by adipose tissue, is of particular interest in metabolic syndrome, because it is inversely correlated with obesity and insulin sensitivity. However, it is not known to what extent the genetics of plasma adiponectin and the genetics of obesity

  13. How closely does genetic diversity in finite populations conform to predictions of neutral theory? Large deficits in regions of low recombination. (United States)

    Frankham, R


    Levels of genetic diversity in finite populations are crucial in conservation and evolutionary biology. Genetic diversity is required for populations to evolve and its loss is related to inbreeding in random mating populations, and thus to reduced population fitness and increased extinction risk. Neutral theory is widely used to predict levels of genetic diversity. I review levels of genetic diversity in finite populations in relation to predictions of neutral theory. Positive associations between genetic diversity and population size, as predicted by neutral theory, are observed for microsatellites, allozymes, quantitative genetic variation and usually for mitochondrial DNA (mtDNA). However, there are frequently significant deviations from neutral theory owing to indirect selection at linked loci caused by balancing selection, selective sweeps and background selection. Substantially lower genetic diversity than predicted under neutrality was found for chromosomes with low recombination rates and high linkage disequilibrium (compared with 'normally' recombining chromosomes within species and adjusted for different copy numbers and mutation rates), including W (median 100% lower) and Y (89% lower) chromosomes, dot fourth chromosomes in Drosophila (94% lower) and mtDNA (67% lower). Further, microsatellite genetic and allelic diversity were lost at 12 and 33% faster rates than expected in populations adapting to captivity, owing to widespread selective sweeps. Overall, neither neutral theory nor most versions of the genetic draft hypothesis are compatible with all empirical results.

  14. Species-specific relationships between water transparency and male coloration within and between two closely related Lake Victoria cichlid species

    NARCIS (Netherlands)

    Castillo Cajas, Ruth F; Selz, Oliver M; Ripmeester, Erwin A P; Seehausen, Ole; Maan, Martine E


    Environmental variation in signalling conditions affects animal communication traits, with possible consequences for sexual selection and reproductive isolation. Using spectrophotometry, we studied how male coloration within and between populations of two closely related Lake Victoria cichlid

  15. Cognitive functioning is more closely related to real-life mobility than to laboratory-based mobility parameters

    NARCIS (Netherlands)

    Giannouli, Eleftheria; Bock, Otmar; Zijlstra, Wiebren


    Increasing evidence indicates that mobility depends on cognitive resources, but the exact relationships between various cognitive functions and different mobility parameters still need to be investigated. This study examines the hypothesis that cognitive functioning is more closely related to


    Although recent technological advances in DNA sequencing and computational biology now allow scientists to compare entire microbial genomes, comparisons of closely related bacterial species and individual isolates by whole-genome sequencing approaches remains prohibitively expens...

  17. The γ-gliadin multigene family in common wheat (Triticum aestivum and its closely related species

    Directory of Open Access Journals (Sweden)

    Chen Qing


    Full Text Available Abstract Background The unique properties of wheat flour primarily depend on gluten, which is the most important source of protein for human being. γ-Gliadins have been considered to be the most ancient of the wheat gluten family. The complex family structure of γ-gliadins complicates the determination of their function. Moreover, γ-gliadins contain several sets of celiac disease epitopes. However, no systematic research has been conducted yet. Results A total of 170 γ-gliadin genes were isolated from common wheat and its closely related species, among which 138 sequences are putatively functional. The ORF lengths of these sequences range from 678 to 1089 bp, and the repetitive region is mainly responsible for the size heterogeneity of γ-gliadins. The repeat motif P(Q/L/S/T/I/V/R/AF(S/Y/V/Q/I/C/LP(R/L/S/T/H/C/YQ1–2(P(S/L/T/A/F/HQQ1–2is repeated from 7 to 22 times. Sequence polymorphism and linkage disequilibrium analyses show that γ-gliadins are highly diverse. Phylogenic analyses indicate that there is no obvious discrimination between Sitopsis and Ae. tauschii at the Gli-1 loci, compared with diploid wheat. According to the number and placement of cysteine residues, we defined nine cysteine patterns and 17 subgroups. Alternatively, we classified γ-gliadins into two types based on the length of repetitive domain. Amino acid composition analyses indicate that there is a wide range of essential amino acids in γ-gliadins, and those γ-gliadins from subgroup SG-10 and SG-12 and γ-gliadins with a short repetitive domain are more nutritional. A screening of toxic epitopes shows that γ-gliadins with a pattern of C9 and γ-gliadins with a short repetitive domain almost lack any epitopes. Conclusion γ-Gliadin sequences in wheat and closely related Aegilops species are diverse. Each group/subgroup contributes differently to nutritional quality and epitope content. It is suggested that the genes with a short repetitive domain are more

  18. A closed-loop hybrid physiological model relating to subjects under physical stress. (United States)

    El-Samahy, Emad; Mahfouf, Mahdi; Linkens, Derek A


    The objective of this research study is to derive a comprehensive physiological model relating to subjects under physical stress conditions. The model should describe the behaviour of the cardiovascular system, respiratory system, thermoregulation and brain activity in response to physical workload. An experimental testing rig was built which consists of recumbent high performance bicycle for inducing the physical load and a data acquisition system comprising monitors and PCs. The signals acquired and used within this study are the blood pressure, heart rate, respiration, body temperature, and EEG signals. The proposed model is based on a grey-box based modelling approach which was used because of the sufficient level of details it provides. Cardiovascular and EEG Data relating to 16 healthy subject volunteers (data from 12 subjects were used for training/validation and the data from 4 subjects were used for model testing) were collected using the Finapres and the ProComp+ monitors. For model validation, residual analysis via the computing of the confidence intervals as well as related histograms was performed. Closed-loop simulations for different subjects showed that the model can provide reliable predictions for heart rate, blood pressure, body temperature, respiration, and the EEG signals. These findings were also reinforced by the residual analyses data obtained, which suggested that the residuals were within the 90% confidence bands and that the corresponding histograms were of a normal distribution. A higher intelligent level was added to the model, based on neural networks, to extend the capabilities of the model to predict over a wide range of subjects dynamics. The elicited physiological model describing the effect of physiological stress on several physiological variables can be used to predict performance breakdown of operators in critical environments. Such a model architecture lends itself naturally to exploitation via feedback control in a 'reverse

  19. The molecular genetic basis of age-related macular degeneration ...

    Indian Academy of Sciences (India)


    Dec 10, 2009 ... this review, we have provided an overview on the underlying molecular genetic mechanisms in AMD worldwide and highlight ..... eases like diabetes (Scott et al. ...... 2006 Systematic review and meta-analysis of.

  20. Neurofibromatosis type 1 and multiple sclerosis: Genetically related ...

    African Journals Online (AJOL)

    Solaf M. Elsayed


    Oct 25, 2016 ... a Genetics Unit, Children's Hospital, Ain Shams University, Egypt b Neurology Department ... Through the past 6 months, she started to develop short term memory loss with intact long term memory. There was no other motor ...

  1. Estimating the relative contributions of maternal genetic, paternal genetic and intrauterine factors to offspring birth weight and head circumference. (United States)

    Rice, Frances; Thapar, Anita


    Genetic factors and the prenatal environment contribute to birth weight. However, very few types of study design can disentangle their relative contribution. To examine maternal genetic and intrauterine contributions to offspring birth weight and head circumference. To compare the contribution of maternal and paternal genetic effects. Mothers and fathers were either genetically related or unrelated to their offspring who had been conceived by in vitro fertilization. 423 singleton full term offspring, of whom 262 were conceived via homologous IVF (both parents related), 66 via sperm donation (mother only related) and 95 via egg donation (father only related). Maternal weight at antenatal booking, current weight and maternal height. Paternal current weight and height were all predictors. Infant birth weight and head circumference were outcomes. Genetic relatedness was the main contributing factor between measures of parental weight and offspring birth weight as correlations were only significant when the parent was related to the child. However, there was a contribution of the intrauterine environment to the association between maternal height and both infant birth weight and infant head circumference as these were significant even when mothers were unrelated to their child. Both maternal and paternal genes made contributions to infant birth weight. Maternal height appeared to index a contribution of the intrauterine environment to infant growth and gestational age. Results suggested a possible biological interaction between the intrauterine environment and maternal inherited characteristics which suppresses the influence of paternal genes. 2010 Elsevier Ltd. All rights reserved.

  2. Attention to affective pictures in closed head injury: event-related brain potentials and cardiac responses. (United States)

    Solbakk, Anne-Kristin; Reinvang, Ivar; Svebak, Sven; Nielsen, Christopher S; Sundet, Kjetil


    We examined whether closed head injury patients show altered patterns of selective attention to stimulus categories that naturally evoke differential responses in healthy people. Self-reported rating and electrophysiological (event-related potentials [ERPs], heart rate [HR]) responses to affective pictures were studied in patients with mild head injury (n = 20; CT/MRI negative), in patients with predominantly frontal brain lesions (n = 12; CT/MRI confirmed), and in healthy controls (n = 20). Affective valence similarly modulated HR and ERP responses in all groups, but group differences occurred that were independent of picture valence. The attenuation of P3-slow wave amplitudes in the mild head injury group indicates a reduction in the engagement of attentional resources to the task. In contrast, the general enhancement of ERP amplitudes at occipital sites in the group with primarily frontal brain injury may reflect disinhibition of input at sensory receptive areas, possibly due to a deficit in top-down modulation performed by anterior control systems.

  3. Trehalose 6-phosphate signal is closely related to sorbitol in apple (Malus domestica Borkh. cv. Gala) (United States)

    Zhang, Wen; Lunn, John E.; Feil, Regina; Wang, Yufei; Zhao, Jingjing; Tao, Hongxia; Zhao, Zhengyang


    ABSTRACT Trehalose-6-phosphate (Tre6P) is a precursor of trehalose, which is widespread in nature and greatly influences plant growth and development. Tre6P acts as a signal of carbon availability in many plants, but little is known about the function of Tre6P in rosaceous plants, which have specific sorbitol biosynthesis and transportation pathways. In the present study, Tre6P levels and Sorbitol:Tre6P ratios were analyzed in apple (Malus domestica, Borkh. cv. Gala). Tre6P levels were positively correlated with sorbitol content but negatively correlated with sucrose, glucose, and fructose content in developing fruit. However, under sorbitol-limited conditions, Tre6P levels were positively correlated with both sorbitol and sucrose. In the presence of different exogenous sugar supply, Tre6P levels increased corresponding with sorbitol, but this was not the case with sucrose. In addition, Tre6P content and sorbitol:Tre6P ratios were more highly correlated with ADP-glucose levels under sorbitol-limited conditions and fruit development stages, respectively. These results suggest that Tre6P is more closely related to sorbitol than other soluble sugars and has an important role in influencing carbon metabolism in apple. PMID:28069587

  4. Relapsing fever causative agent in Southern Iran is a closely related species to East African borreliae. (United States)

    Naddaf, Saied Reza; Ghazinezhad, Behnaz; Kazemirad, Elham; Cutler, Sally Jane


    We obtained two blood samples from relapsing fever patients residing in Jask County, Hormozgan Province, southern Iran in 2013. Sequencing of a partial fragment of glpQ from two samples, and further characterization of one of them by analyzing flaB gene, and 16S-23S spacer (IGS) revealed the greatest sequence identity with East African borreliae, Borrelia recurrentis, and Borrelia duttonii, and Borrelia microti from Iran. Phylogenetic analyses of glpQ, flaB, and concatenated sequences (glpQ, flab, and IGS) clustered these sequences amongst East African Relapsing fever borreliae and B. microti from Iran. However, the more discriminatory IGS disclosed a unique 8-bp signature (CAGCCTAA) separating these from B. microti and indeed other relapsing fever borreliae. In southern Iran, relapsing fever cases are mostly from localities in which O. erraticus ticks, the notorious vector of B. microti, prevail. There are chances that this argasid tick serves as a host and vector of several closely related species or ecotypes including the one we identified in the present study. The distribution of this Borrelia species remains to be elucidated, but it is assumed to be endemic to lowland areas of the Hormozgan Province, as well as Sistan va Baluchistan in the southeast and South Khorasan (in Persian: Khorasan-e Jonobi) in the east of Iran. Copyright © 2017 Elsevier GmbH. All rights reserved.

  5. Trehalose 6-phosphate signal is closely related to sorbitol in apple (Malus domestica Borkh. cv. Gala

    Directory of Open Access Journals (Sweden)

    Wen Zhang


    Full Text Available Trehalose-6-phosphate (Tre6P is a precursor of trehalose, which is widespread in nature and greatly influences plant growth and development. Tre6P acts as a signal of carbon availability in many plants, but little is known about the function of Tre6P in rosaceous plants, which have specific sorbitol biosynthesis and transportation pathways. In the present study, Tre6P levels and Sorbitol:Tre6P ratios were analyzed in apple (Malus domestica, Borkh. cv. Gala. Tre6P levels were positively correlated with sorbitol content but negatively correlated with sucrose, glucose, and fructose content in developing fruit. However, under sorbitol-limited conditions, Tre6P levels were positively correlated with both sorbitol and sucrose. In the presence of different exogenous sugar supply, Tre6P levels increased corresponding with sorbitol, but this was not the case with sucrose. In addition, Tre6P content and sorbitol:Tre6P ratios were more highly correlated with ADP-glucose levels under sorbitol-limited conditions and fruit development stages, respectively. These results suggest that Tre6P is more closely related to sorbitol than other soluble sugars and has an important role in influencing carbon metabolism in apple.

  6. Host plant use among closely related Anaea butterfly species (Lepidoptera, Nymphalidae, Charaxinae

    Directory of Open Access Journals (Sweden)



    Full Text Available There is a great number of Charaxinae (Lepidoptera: Nymphalidae species in the tropics whose larvae feed on several plant families. However the genus Anaea is almost always associated with Croton species (Euphorbiaceae. This work describes patterns of host plant use by immature and adult abundance on different vertical strata of sympatric Anaea species in a forest of Southeastern Brazil. Quantitative samples of leaves were taken in April/1999 and May/2000 to collect eggs and larvae of four Anaea species on C.alchorneicarpus, C. floribundus and C. salutaris in a semideciduous forest. Sampled leaves were divided into three classes of plant phenological stage: saplings, shrubs and trees. The results showed that the butterfly species are segregating in host plant use on two scales: host plant species and plant phenological stages. C. alchorneicarpus was used by only one Anaea species, whereas C. floribundus was used by three species and C. salutaris by four Anaea species. There was one Anaea species concentrated on sapling, another on sapling/shrub and two others on shrub/tree leaves. Adults of Anaea were more frequent at canopy traps but there were no differences among species caught in traps at different vertical positions. This work supplements early studies on host plant use among Charaxinae species and it describes how a guild of closely related butterfly species may be organized in a complex tropical habitat.

  7. Point Cloud Based Relative Pose Estimation of a Satellite in Close Range

    Directory of Open Access Journals (Sweden)

    Lujiang Liu


    Full Text Available Determination of the relative pose of satellites is essential in space rendezvous operations and on-orbit servicing missions. The key problems are the adoption of suitable sensor on board of a chaser and efficient techniques for pose estimation. This paper aims to estimate the pose of a target satellite in close range on the basis of its known model by using point cloud data generated by a flash LIDAR sensor. A novel model based pose estimation method is proposed; it includes a fast and reliable pose initial acquisition method based on global optimal searching by processing the dense point cloud data directly, and a pose tracking method based on Iterative Closest Point algorithm. Also, a simulation system is presented in this paper in order to evaluate the performance of the sensor and generate simulated sensor point cloud data. It also provides truth pose of the test target so that the pose estimation error can be quantified. To investigate the effectiveness of the proposed approach and achievable pose accuracy, numerical simulation experiments are performed; results demonstrate algorithm capability of operating with point cloud directly and large pose variations. Also, a field testing experiment is conducted and results show that the proposed method is effective.

  8. Drought responses of three closely related Caragana species: implication for their vicarious distribution. (United States)

    Ma, Fei; Na, Xiaofan; Xu, Tingting


    Drought is a major environmental constraint affecting growth and distribution of plants in the desert region of the Inner Mongolia plateau. Caragana microphylla, C. liouana, and C. korshinskii are phylogenetically close but distribute vicariously in Mongolia plateau. To gain a better understanding of the ecological differentiation between these three species, we examined the leaf gas exchange, growth, water use efficiency, biomass accumulation and allocation by subjecting their seedlings to low and high drought treatments in a glasshouse. Increasing drought stress had a significant effect on many aspects of seedling performance in all species, but the physiology and growth varied with species in response to drought. C. korshinskii exhibited lower sensitivity of photosynthetic rate and growth, lower specific leaf area, higher biomass allocation to roots, higher levels of water use efficiency to drought compared with the other two species. Only minor interspecific differences in growth performances were observed between C. liouana and C. microphylla. These results indicated that faster seedling growth rate and more efficient water use of C. korshinskii should confer increased drought tolerance and facilitate its establishment in more severe drought regions relative to C. liouana and C. microphylla.

  9. A hybrid particle swarm optimization and genetic algorithm for closed-loop supply chain network design in large-scale networks

    DEFF Research Database (Denmark)

    Soleimani, Hamed; Kannan, Govindan


    Today, tracking the growing interest in closed-loop supply chain shown by both practitioners and academia is easily possible. There are many factors, which transform closed-loop supply chain issues into a unique and vital subject in supply chain management, such as environmental legislation...... is proposed and a complete validation process is undertaken using CPLEX and MATLAB software. In small instances, the global optimum points of CPLEX for the proposed hybrid algorithm are compared to genetic algorithm, and particle swarm optimization. Then, in small, mid, and large-size instances, performances...

  10. Effect of Inspection Policies and Residual Value of Collected Used Products: A Mathematical Model and Genetic Algorithm for a Closed-Loop Green Manufacturing System

    Directory of Open Access Journals (Sweden)

    Byung Duk Song


    Full Text Available In the green manufacturing system that pursues the reuse of used products, the residual value of collected used products (CUP hugely affects a variety of managerial decisions to construct profitable and environmental remanufacturing plans. This paper deals with a closed-loop green manufacturing system for companies which perform both manufacturing with raw materials and remanufacturing with collected used products (CUP. The amount of CUP is assumed as a function of buy-back cost while the quality level of CUP, which means the residual value, follows a known distribution. In addition, the remanufacturing cost can differ according to the quality of the CUP. Moreover, nowadays companies are subject to existing environment-related laws such as Extended Producer Responsibility (EPR. Therefore, a company should collect more used products than its obligatory take-back quota or face fines from the government for not meeting its quota. Through the development of mathematical models, two kinds of inspection policies are examined to validate the efficiency of two different operation processes. To find a managerial solution, a genetic algorithm is proposed and tested with numerical examples.

  11. The relation of close friends to cognitive performance in old age: the mediating role of leisure activities. (United States)

    Ihle, Andreas; Oris, Michel; Baeriswyl, Marie; Kliegel, Matthias


    ABSTRACTBackground:From a conceptual point of view, close friends are an important resource for promoting activity engagement in old age. Leisure activity engagement in turn is a key predictor of cognitive performance. Empirically, it remains unclear so far whether leisure activity engagement mediates between having close friends on the one hand and cognitive performance on the other, which we investigated in a large sample of older adults. We assessed cognitive performance (Mill Hill vocabulary scale and Trail Making Test (TMT) parts A and B) in 2,812 older adults. Participants reported information on leisure activity engagement and close friends. A larger number of leisure activities and a larger number of close friends were significantly related to better cognitive performance in the Mill Hill vocabulary scale and TMT parts A and B. A larger number of close friends were significantly related to a larger number of leisure activities. The number of leisure activities mediated more than half of the relation of the number of close friends to performance in all three cognitive measures. Having close friends may be helpful to stimulate and promote activity participation in old age. By enhancing individuals' cognitive reserve, this may finally preserve their cognitive performance level in old age.

  12. Cryptic distant relatives are common in both isolated and cosmopolitan genetic samples.

    Directory of Open Access Journals (Sweden)

    Brenna M Henn

    Full Text Available Although a few hundred single nucleotide polymorphisms (SNPs suffice to infer close familial relationships, high density genome-wide SNP data make possible the inference of more distant relationships such as 2(nd to 9(th cousinships. In order to characterize the relationship between genetic similarity and degree of kinship given a timeframe of 100-300 years, we analyzed the sharing of DNA inferred to be identical by descent (IBD in a subset of individuals from the 23andMe customer database (n = 22,757 and from the Human Genome Diversity Panel (HGDP-CEPH, n = 952. With data from 121 populations, we show that the average amount of DNA shared IBD in most ethnolinguistically-defined populations, for example Native American groups, Finns and Ashkenazi Jews, differs from continentally-defined populations by several orders of magnitude. Via extensive pedigree-based simulations, we determined bounds for predicted degrees of relationship given the amount of genomic IBD sharing in both endogamous and 'unrelated' population samples. Using these bounds as a guide, we detected tens of thousands of 2(nd to 9(th degree cousin pairs within a heterogenous set of 5,000 Europeans. The ubiquity of distant relatives, detected via IBD segments, in both ethnolinguistic populations and in large 'unrelated' populations samples has important implications for genetic genealogy, forensics and genotype/phenotype mapping studies.

  13. Genetic structure and inter-generic relationship of closed colony of laboratory rodents based on RAPD markers. (United States)

    Kumar, Mahadeo; Kumar, Sharad


    Molecular genetic analysis was performed using random amplified polymorphic DNA (RAPD) on three commonly used laboratory bred rodent genera viz. mouse (Mus musculus), rat (Rattus norvegicus) and guinea pig (Cavia porcellus) as sampled from the breeding colony maintained at the Animal Facility, CSIR-Indian Institute of Toxicology Research, Lucknow. In this study, 60 samples, 20 from each genus, were analyzed for evaluation of genetic structure of rodent stocks based on polymorphic bands using RAPD markers. Thirty five random primers were assessed for RAPD analysis. Out of 35, only 20 primers generated a total of 56.88% polymorphic bands among mice, rats and guinea pigs. The results revealed significantly variant and distinct fingerprint patterns specific to each of the genus. Within-genera analysis, the highest (89.0%) amount of genetic homogeneity was observed in mice samples and the least (79.3%) were observed in guinea pig samples. The amount of genetic homogeneity was observed very high within all genera. The average genetic diversity index observed was low (0.045) for mice and high (0.094) for guinea pigs. The inter-generic distances were maximum (0.8775) between mice and guinea pigs; and the minimum (0.5143) between rats and mice. The study proved that the RAPD markers are useful as genetic markers for assessment of genetic structure as well as inter-generic variability assessments.

  14. Genetics of therapy-related myelodysplasia and acute myeloid leukemia

    DEFF Research Database (Denmark)

    Pedersen-Bjergaard, J.; Andersen, Mette Klarskov; Andersen, M.T.


    Myelodysplasia (MDS) and acute myeloid leukemia (AML) are heterogeneous, closely associated diseases arising de novo or following chemotherapy with alkylating agents, topoisomerase II inhibitors, or after radiotherapy. Whereas de novo MDS and AML are almost always subclassified according...

  15. Microbial environment affects innate immunity in two closely related earthworm species Eisenia andrei and Eisenia fetida.

    Directory of Open Access Journals (Sweden)

    Jiří Dvořák

    Full Text Available Survival of earthworms in the environment depends on their ability to recognize and eliminate potential pathogens. This work is aimed to compare the innate defense mechanisms of two closely related earthworm species, Eisenia andrei and Eisenia fetida, that inhabit substantially different ecological niches. While E. andrei lives in a compost and manure, E. fetida can be found in the litter layer in forests. Therefore, the influence of environment-specific microbiota on the immune response of both species was followed. Firstly, a reliable method to discern between E. andrei and E. fetida based on species-specific primers for cytochrome c oxidase I (COI and stringent PCR conditions was developed. Secondly, to analyze the immunological profile in both earthworm species, the activity and expression of lysozyme, pattern recognition protein CCF, and antimicrobial proteins with hemolytic function, fetidin and lysenins, have been assessed. Whereas, CCF and lysozyme showed only slight differences in the expression and activity, fetidin/lysenins expression as well as the hemolytic activity was considerably higher in E. andrei as compared to E. fetida. The expression of fetidin/lysenins in E. fetida was not affected upon the challenge with compost microbiota, suggesting more substantial changes in the regulation of the gene expression. Genomic DNA analyses revealed significantly higher level of fetidin/lysenins (determined using universal primer pairs in E. andrei compared to E. fetida. It can be hypothesized that E. andrei colonizing compost as a new habitat acquired an evolutionary selection advantage resulting in a higher expression of antimicrobial proteins.

  16. Complete genome sequence of the industrial bacterium Bacillus licheniformis and comparisons with closely related Bacillus species (United States)

    Rey, Michael W; Ramaiya, Preethi; Nelson, Beth A; Brody-Karpin, Shari D; Zaretsky, Elizabeth J; Tang, Maria; de Leon, Alfredo Lopez; Xiang, Henry; Gusti, Veronica; Clausen, Ib Groth; Olsen, Peter B; Rasmussen, Michael D; Andersen, Jens T; Jørgensen, Per L; Larsen, Thomas S; Sorokin, Alexei; Bolotin, Alexander; Lapidus, Alla; Galleron, Nathalie; Ehrlich, S Dusko; Berka, Randy M


    Background Bacillus licheniformis is a Gram-positive, spore-forming soil bacterium that is used in the biotechnology industry to manufacture enzymes, antibiotics, biochemicals and consumer products. This species is closely related to the well studied model organism Bacillus subtilis, and produces an assortment of extracellular enzymes that may contribute to nutrient cycling in nature. Results We determined the complete nucleotide sequence of the B. licheniformis ATCC 14580 genome which comprises a circular chromosome of 4,222,336 base-pairs (bp) containing 4,208 predicted protein-coding genes with an average size of 873 bp, seven rRNA operons, and 72 tRNA genes. The B. licheniformis chromosome contains large regions that are colinear with the genomes of B. subtilis and Bacillus halodurans, and approximately 80% of the predicted B. licheniformis coding sequences have B. subtilis orthologs. Conclusions Despite the unmistakable organizational similarities between the B. licheniformis and B. subtilis genomes, there are notable differences in the numbers and locations of prophages, transposable elements and a number of extracellular enzymes and secondary metabolic pathway operons that distinguish these species. Differences include a region of more than 80 kilobases (kb) that comprises a cluster of polyketide synthase genes and a second operon of 38 kb encoding plipastatin synthase enzymes that are absent in the B. licheniformis genome. The availability of a completed genome sequence for B. licheniformis should facilitate the design and construction of improved industrial strains and allow for comparative genomics and evolutionary studies within this group of Bacillaceae. PMID:15461803

  17. Glycolysis Is Dynamic and Relates Closely to Respiration Rate in Stored Sugarbeet Roots

    Directory of Open Access Journals (Sweden)

    Clarice A. Megguer


    storage and that changes in glycolysis are closely related to changes in sugarbeet root respiration.

  18. Visual perception can account for the close relation between numerosity processing and computational fluency. (United States)

    Zhou, Xinlin; Wei, Wei; Zhang, Yiyun; Cui, Jiaxin; Chen, Chuansheng


    Studies have shown that numerosity processing (e.g., comparison of numbers of dots in two dot arrays) is significantly correlated with arithmetic performance. Researchers have attributed this association to the fact that both tasks share magnitude processing. The current investigation tested an alternative hypothesis, which states that visual perceptual ability (as measured by a figure-matching task) can account for the close relation between numerosity processing and arithmetic performance (computational fluency). Four hundred and twenty four third- to fifth-grade children (220 boys and 204 girls, 8.0-11.0 years old; 120 third graders, 146 fourth graders, and 158 fifth graders) were recruited from two schools (one urban and one suburban) in Beijing, China. Six classes were randomly selected from each school, and all students in each selected class participated in the study. All children were given a series of cognitive and mathematical tests, including numerosity comparison, figure matching, forward verbal working memory, visual tracing, non-verbal matrices reasoning, mental rotation, choice reaction time, arithmetic tests and curriculum-based mathematical achievement test. Results showed that figure-matching ability had higher correlations with numerosity processing and computational fluency than did other cognitive factors (e.g., forward verbal working memory, visual tracing, non-verbal matrix reasoning, mental rotation, and choice reaction time). More important, hierarchical multiple regression showed that figure matching ability accounted for the well-established association between numerosity processing and computational fluency. In support of the visual perception hypothesis, the results suggest that visual perceptual ability, rather than magnitude processing, may be the shared component of numerosity processing and arithmetic performance.

  19. Different patterns of oviposition learning in two closely related ectoparasitoid wasps with contrasting reproductive strategies (United States)

    Sasakawa, Kôji; Uchijima, Kenta; Shibao, Harunobu; Shimada, Masakazu


    Many parasitoid wasps learn host-associated cues and use them in subsequent host-searching behavior. This associative learning, namely "oviposition learning," has been investigated in many studies. However, few studies have compared multiple species, and no comparative study has previously been conducted on ectoparasitoid species. We compared the effects of oviposition learning on host preference and offspring sex ratio in two closely related ectoparasitoid wasps with contrasting reproductive strategies, Anisopteromalus calandrae (r-strategist) and its sibling species (K-strategist). Using two bruchine hosts, Callosobruchus chinensis and Callosobruchus maculatus larvae infesting the cowpea Vigna unguiculata, oviposition choice experiments were performed at high and low host densities. In both species, no conspicuous effect on the offspring sex ratio was detected, but effects on host preference were found to differ between the species. In A. calandrae, the effects were detected only at high host density, suggesting that oviposition learning plays a role in host discrimination from a short distance but not from a long distance. In the sibling species, those effects were not detected in any of the cases, suggesting the absence of oviposition learning. These results are compatible with those of previous comparative studies of endoparasitoid wasps in that few lifetime oviposition experiences and/or low reward per foraging decision result in low or absent oviposition learning ability. This finding may indicate that ecological traits contributing to learning ability are similar between endoparasitoid and ectoparasitoid wasps. Thus, our species comparison of ectoparasitoids provides another model system for investigating learning and memory dynamics in parasitoid wasps.

  20. New Microsatellite Markers for Tricyrtis macrantha (Convallariaceae and Cross-Amplification in Closely Related Species

    Directory of Open Access Journals (Sweden)

    Noriko Ohki


    Full Text Available Premise of the study: Microsatellite markers were characterized in Tricyrtis macrantha (sect. Brachycyrtis, Convallariaceae, a vulnerable species endemic to Japan, to investigate its genetic diversity and population structure. Methods and Results: Eleven microsatellite markers were developed. The number of alleles per locus ranged from one to seven, and genetic diversity per locus ranged from 0.142 to 0.812. Four markers were successfully amplified in other species of sect. Brachycyrtis (T. ishiiana, T. ishiiana var. surugensis, and T. macranthopsis. Conclusions: The microsatellite markers can be used to investigate the genetic diversity and population structure of the vulnerable and endangered species of Tricyrtis sect. Brachycyrtis, to aid in the development of conservation strategies for each species.

  1. Application of sequence-related amplified polymorphism to genetic ...

    Indian Academy of Sciences (India)

    reported that 19.3% of total genetic diversity resides among the populations of 29 outbreeding species (Bussell 1999). L. sinense is an insect-pollinated, outcrossing species .... For the special habitat of L. sinense, in situ conserva- tion should be first recommended. For ex situ conservation, we need to design and establish a ...

  2. Negative aspects of close social relations and 10-year incident ischaemic heart disease hospitalization among middle-aged Danes

    DEFF Research Database (Denmark)

    Lund, Rikke; Rod, Naja Hulvej; Thielen, Karsten


    BACKGROUND: Little is known about the association between negative aspects of close social relations and development of ischaemic heart disease (IHD). We aim to address if the experience of worries/demands and conflicts with close social relations are related to risk of first-time hospitalization...... National Patient Registry. Cox regression analysis was used to analyse data and all analyses were adjusted for age, gender, social class, cohabitation, and depressive symptoms. RESULTS: Worries/demands from and conflicts with children were associated with IHD hospitalization in an exposure-dependent manner...

  3. Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy

    DEFF Research Database (Denmark)

    Duno, Morten; Schwartz, Marianne; Larsen, Pernille L.


    Pathogenic variations in the ABCA4 gene were originally recognized as genetic background for the autosomal recessive disorders Stargardt disease and fundus flavimaculatus, but have expanded to embrace a diversity of retinal diseases, giving rise to the new diagnostic term, ABCA4-related retinopathy...... diagnosis must rely on a comprehensive genetic screening as the mutation spectrum of ABCA4-related retinopathies continues to expand....

  4. Phenotypic differentiation is associated with divergent sexual selection among closely related barn swallow populations

    Czech Academy of Sciences Publication Activity Database

    Wilkins, M. R.; Karaardic, H.; Vortman, Y.; Parchman, T. L.; Albrecht, Tomáš; Petrželková, Adéla; Özkan, L.; Pap, P. L.; Hubbard, J. K.; Hund, A. K.; Safran, R. J.


    Roč. 29, č. 12 (2016), s. 2410-2421 ISSN 1010-061X R&D Projects: GA MŠk(CZ) LH14045 Institutional support: RVO:68081766 Keywords : birds * natural selection * population genetics * sexual selection & conflicts * speciation Subject RIV: EG - Zoology Impact factor: 2.792, year: 2016

  5. Can ex situ plant collections differ in effectiveness, even 1 between closely related species? (United States)

    Conservation of imperiled plant species often requires ex situ (offsite) living collections. Protocols for developing these collections most often emphasize sampling depth, but little is known about the genetics of such collections. This study compares how well a single collecting protocol can captu...

  6. Endogenous lentivirus in Malayan colugo (Galeopterus variegatus), a close relative of primates

    Czech Academy of Sciences Publication Activity Database

    Hron, Tomáš; Fábryová, Helena; Pačes, Jan; Elleder, Daniel


    Roč. 11, č. 84 (2014) ISSN 1742-4690 R&D Projects: GA MŠk(CZ) LK11215 Grant - others:GA MŠk(CZ) LM2010005 Institutional support: RVO:68378050 Keywords : Endogenous lentiviruses * Dermoptera * Paleovirology Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.185, year: 2014

  7. Genome-wide differentiation in closely related populations: the roles of selection and geographic isolation

    Czech Academy of Sciences Publication Activity Database

    Safran, R. J.; Scordato, E. S. C.; Wilkins, M. R.; Hubbard, J. K.; Jenkins, B. R.; Albrecht, Tomáš; Flaxman, S. M.; Karaardic, H.; Vortman, Y.; Lotem, A.; Nosil, P.; Pap, P.; Shen, S.; Chan, S.-F.; Parchman, T. L.; Kane, N. C.


    Roč. 25, č. 16 (2016), s. 3865-3883 ISSN 0962-1083 R&D Projects: GA MŠk(CZ) LH14045 Institutional support: RVO:68081766 Keywords : climate variability * climate variability * genotyping by sequencing * population genetics * reproductive isolation * speciation Subject RIV: EG - Zoology Impact factor: 6.086, year: 2016

  8. Can microsatellite markers resolve phylogenetic relationships between closely related crested newt species (Triturus cristatus superspecies)?

    Czech Academy of Sciences Publication Activity Database

    Mikulíček, P.; Crnobrnja-Isailović, J.; Piálek, Jaroslav


    Roč. 28, č. 4 (2007), s. 467-474 ISSN 0173-5373 R&D Projects: GA ČR GA206/01/0695; GA MŠk LC06073 Institutional research plan: CEZ:AV0Z60930519 Keywords : crested newt * microsatelitte markers Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 0.929, year: 2007

  9. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women (United States)

    ... their family history of cancer. Depending on a woman’s family history, the doctor or nurse may then use a ... against routine genetic counseling or BRCA testing of women whose family history is not associated with an increased risk for ...

  10. A novel multiplex PCR discriminates Bacillus anthracis and its genetically related strains from other Bacillus cereus group species.

    Directory of Open Access Journals (Sweden)

    Hirohito Ogawa

    Full Text Available Anthrax is an important zoonotic disease worldwide that is caused by Bacillus anthracis, a spore-forming pathogenic bacterium. A rapid and sensitive method to detect B. anthracis is important for anthrax risk management and control in animal cases to address public health issues. However, it has recently become difficult to identify B. anthracis by using previously reported molecular-based methods because of the emergence of B. cereus, which causes severe extra-intestinal infection, as well as the human pathogenic B. thuringiensis, both of which are genetically related to B. anthracis. The close genetic relation of chromosomal backgrounds has led to complexity of molecular-based diagnosis. In this study, we established a B. anthracis multiplex PCR that can screen for the presence of B. anthracis virulent plasmids and differentiate B. anthracis and its genetically related strains from other B. cereus group species. Six sets of primers targeting a chromosome of B. anthracis and B. anthracis-like strains, two virulent plasmids, pXO1 and pXO2, a bacterial gene, 16S rRNA gene, and a mammalian gene, actin-beta gene, were designed. The multiplex PCR detected approximately 3.0 CFU of B. anthracis DNA per PCR reaction and was sensitive to B. anthracis. The internal control primers also detected all bacterial and mammalian DNAs examined, indicating the practical applicability of this assay as it enables monitoring of appropriate amplification. The assay was also applied for detection of clinical strains genetically related to B. anthracis, which were B. cereus strains isolated from outbreaks of hospital infections in Japan, and field strains isolated in Zambia, and the assay differentiated B. anthracis and its genetically related strains from other B. cereus group strains. Taken together, the results indicate that the newly developed multiplex PCR is a sensitive and practical method for detecting B. anthracis.

  11. Complaints related to mandibular function impairment after closed treatment of fractures of the mandibular condyle

    NARCIS (Netherlands)

    Niezen, E. T.; Bos, R. R. M.; de Bont, L. G. M.; Stegenga, B.; Dijkstra, P. U.

    This study analysed the relationship between complaints and mandibular function after closed treatment of fractures of the mandibular condyle in a prospective study. In a I-year follow-up, complaints were assessed during physical examination and function was assessed using the mandibular function

  12. The death(s) of close friends and family moderate genetic influences on symptoms of major depressive disorder in adolescents. (United States)

    Gheyara, S; Klump, K L; McGue, M; Iacono, W G; Burt, S A


    Prior work has suggested that genetic influences on major depressive disorder (MDD) may be activated by the experience of negative life events. However, it is unclear whether these results persist when controlling for the possibility of confounding active gene-environment correlations (rGE). We examined a sample of 1230 adopted and biological siblings between the ages of 10 and 20 years from the Sibling Interaction and Behavior Study. MDD was measured via a lifetime DSM-IV symptom count. Number of deaths experienced served as our environmental risk experience. Because this variable is largely independent of the individual's choices/behaviors, we were able to examine gene-environment interactions while circumventing possible rGE confounds. Biometric analyses revealed pronounced linear increases in the magnitude of genetic influences on symptoms of MDD with the number of deaths experienced, such that genetic influences were estimated to be near-zero for those who had experienced no deaths but were quite large in those who had experienced two or more deaths (i.e. accounting for roughly two-thirds of the phenotypic variance). By contrast, shared and non-shared environmental influences on symptoms of MDD were not meaningfully moderated by the number of deaths experienced. Such results constructively replicate prior findings of genetic moderation of depressive symptoms by negative life events, thereby suggesting that this effect is not a function of active rGE confounds. Our findings are thus consistent with the notion that exposure to specific negative life events may serve to activate genetic risk for depression during adolescence.

  13. M-GCAT: interactively and efficiently constructing large-scale multiple genome comparison frameworks in closely related species

    Directory of Open Access Journals (Sweden)

    Messeguer Xavier


    Full Text Available Abstract Background Due to recent advances in whole genome shotgun sequencing and assembly technologies, the financial cost of decoding an organism's DNA has been drastically reduced, resulting in a recent explosion of genomic sequencing projects. This increase in related genomic data will allow for in depth studies of evolution in closely related species through multiple whole genome comparisons. Results To facilitate such comparisons, we present an interactive multiple genome comparison and alignment tool, M-GCAT, that can efficiently construct multiple genome comparison frameworks in closely related species. M-GCAT is able to compare and identify highly conserved regions in up to 20 closely related bacterial species in minutes on a standard computer, and as many as 90 (containing 75 cloned genomes from a set of 15 published enterobacterial genomes in an hour. M-GCAT also incorporates a novel comparative genomics data visualization interface allowing the user to globally and locally examine and inspect the conserved regions and gene annotations. Conclusion M-GCAT is an interactive comparative genomics tool well suited for quickly generating multiple genome comparisons frameworks and alignments among closely related species. M-GCAT is freely available for download for academic and non-commercial use at:

  14. Children's History of Speech-Language Difficulties: Genetic Influences and Associations with Reading-Related Measures (United States)

    DeThorne, Laura Segebart; Hart, Sara A.; Petrill, Stephen A.; Deater-Deckard, Kirby; Thompson, Lee Anne; Schatschneider, Chris; Davison, Megan Dunn


    Purpose: This study examined (a) the extent of genetic and environmental influences on children's articulation and language difficulties and (b) the phenotypic associations between such difficulties and direct assessments of reading-related skills during early school-age years. Method: Behavioral genetic analyses focused on parent-report data…

  15. Genetics of Unilateral and Bilateral Age-Related Macular Degeneration Severity Stages

    NARCIS (Netherlands)

    Schick, T.; Altay, L.; Viehweger, E.; Hoyng, C.B.; Hollander, A.I. den; Felsch, M.; Fauser, S.


    BACKGROUND: Age-related macular degeneration (AMD) is a common disease causing visual impairment and blindness. Various gene variants are strongly associated with late stage AMD, but little is known about the genetics of early forms of the disease. This study evaluated associations of genetic

  16. Recent speciation in three closely related sympatric specialists: inferences using multi-locus sequence, post-mating isolation and endosymbiont data.

    Directory of Open Access Journals (Sweden)

    Huai-Jun Xue

    Full Text Available Shifting between unrelated host plants is relatively rare for phytophagous insects, and distinct host specificity may play crucial roles in reproductive isolation. However, the isolation status and the relationship between parental divergence and post-mating isolation among closely related sympatric specialists are still poorly understood. Here, multi-locus sequence were used to estimate the relationship among three host plant-specific closely related flea beetles, Altica cirsicola, A. fragariae and A. viridicyanea (abbreviated as AC, AF and AV respectively. The tree topologies were inconsistent using different gene or different combinations of gene fragments. The relationship of AF+(AC+AV was supported, however, by both gene tree and species tree based on concatenated data. Post-mating reproductive data on the results of crossing these three species are best interpreted in the light of a well established phylogeny. Nuclear-induced but not Wolbachia-induced unidirectional cytoplasmic incompatibility, which was detected in AC-AF and AF-AV but not in AC-AV, may also suggest more close genetic affinity between AC and AV. Prevalence of Wolbachia in these three beetles, and the endosymbiont in most individuals of AV and AC sharing a same wsp haplotype may give another evidence of AF+(AC+AV. Our study also suggested that these three flea beetles diverged in a relative short time (0.94 My, which may be the result of shifting between unrelated host plants and distinct host specificity. Incomplete post-mating isolation while almost complete lineage sorting indicated that effective pre-mating isolation among these three species should have evolved.

  17. CREB expression in the brains of two closely related parasitic wasp species that differ in long-term memory formation

    NARCIS (Netherlands)

    Van den Berg, M.; Verbaarschot, P.; Hontelez, S.; Vet, L.E.M.; Dicke, M.; Smid, H.M.


    The cAMP/PKA signalling pathway and transcription factor cAMP response element-binding protein (CREB) play key roles in long-term memory (LTM) formation. We used two closely related parasitic wasp species, Cotesia glomerata and Cotesia rubecula, which were previously shown to be different in LTM

  18. Composition of the essential oils from underground parts of Valeriana officinalis L. s.l. and several closely related taxa

    NARCIS (Netherlands)

    Bos, Rein; Woerdenbag, Herman J.; Hendriks, Henk; Scheffer, Johannes J. C.


    The volatile constituents from roots and rhizomes of Valeriana officinalis L. s.l. and of several closely related Valeriana taxa were investigated by GC and GCMS (EI and NICI) analysis. Seeds were obtained from different botanical gardens in Europe, and the plants investigated were grown in an

  19. Phylogeny Inference of Closely Related Bacterial Genomes: Combining the Features of Both Overlapping Genes and Collinear Genomic Regions (United States)

    Zhang, Yan-Cong; Lin, Kui


    Overlapping genes (OGs) represent one type of widespread genomic feature in bacterial genomes and have been used as rare genomic markers in phylogeny inference of closely related bacterial species. However, the inference may experience a decrease in performance for phylogenomic analysis of too closely or too distantly related genomes. Another drawback of OGs as phylogenetic markers is that they usually take little account of the effects of genomic rearrangement on the similarity estimation, such as intra-chromosome/genome translocations, horizontal gene transfer, and gene losses. To explore such effects on the accuracy of phylogeny reconstruction, we combine phylogenetic signals of OGs with collinear genomic regions, here called locally collinear blocks (LCBs). By putting these together, we refine our previous metric of pairwise similarity between two closely related bacterial genomes. As a case study, we used this new method to reconstruct the phylogenies of 88 Enterobacteriale genomes of the class Gammaproteobacteria. Our results demonstrated that the topological accuracy of the inferred phylogeny was improved when both OGs and LCBs were simultaneously considered, suggesting that combining these two phylogenetic markers may reduce, to some extent, the influence of gene loss on phylogeny inference. Such phylogenomic studies, we believe, will help us to explore a more effective approach to increasing the robustness of phylogeny reconstruction of closely related bacterial organisms. PMID:26715828

  20. The Genetics of Stress-Related Disorders: PTSD, Depression, and Anxiety Disorders (United States)

    Smoller, Jordan W


    Research into the causes of psychopathology has largely focused on two broad etiologic factors: genetic vulnerability and environmental stressors. An important role for familial/heritable factors in the etiology of a broad range of psychiatric disorders was established well before the modern era of genomic research. This review focuses on the genetic basis of three disorder categories—posttraumatic stress disorder (PTSD), major depressive disorder (MDD), and the anxiety disorders—for which environmental stressors and stress responses are understood to be central to pathogenesis. Each of these disorders aggregates in families and is moderately heritable. More recently, molecular genetic approaches, including genome-wide studies of genetic variation, have been applied to identify specific risk variants. In this review, I summarize evidence for genetic contributions to PTSD, MDD, and the anxiety disorders including genetic epidemiology, the role of common genetic variation, the role of rare and structural variation, and the role of gene–environment interaction. Available data suggest that stress-related disorders are highly complex and polygenic and, despite substantial progress in other areas of psychiatric genetics, few risk loci have been identified for these disorders. Progress in this area will likely require analysis of much larger sample sizes than have been reported to date. The phenotypic complexity and genetic overlap among these disorders present further challenges. The review concludes with a discussion of prospects for clinical translation of genetic findings and future directions for research. PMID:26321314

  1. Comparative transcriptomic analysis of two closely related ground beetle species with marked genital divergence using pyrosequencing. (United States)

    Fujimaki, Kotaro; Fujisawa, Tomochika; Yazawa, Shigenobu; Nishimura, Osamu; Sota, Teiji


    Ground beetles of the subgenus Ohomopterus (genus Carabus) show marked divergence in species-specific male and female genital morphologies, which contributes to reproductive isolation among species. Characterizing the genetic basis of species-specific genital morphology is essential for understanding their diversification, but genomic information on Ohomopterus is not yet available. We analyzed mRNA extracted from abdominal sections of the last instar larvae and pupae of two sister species, Carabus (Ohomopterus) iwawakianus and C. (O.) uenoi, which show marked differences in genital morphology, to compare transcriptomic profiles using Roche 454 pyrosequencing. We obtained 1,608,572 high-quality reads and assembled them into 176,278 unique sequences, of which 66,049 sequences were combined into 12,662 clusters. Differential expression analyses for sexed pupae suggested that four and five clusters were differentially expressed between species for males and females, respectively. We also identified orthologous sequences of genes involved in genital development in Drosophila, which potentially affect genital development and species-specific genital morphology in Ohomopterus. This study provides the first large transcriptomic data set for a morphologically diversified beetle group, which can facilitate future studies on the genetic basis of species-specific genitalia.

  2. Eyes-Closed Single-Limb Balance is Not Related to Hypermobility Status in Dancers. (United States)

    Marulli, Tiffany A; Harmon-Matthews, Lindsay E; Davis-Coen, J Hope; Willigenburg, Nienke W; Hewett, Timothy E


    Hypermobility may be associated with decreased lower extremity proprioception, which in turn may increase injury risk. The prevalence of hypermobility in dancers varies across studies, but joint hypermobility appears to be more common in dancers than in the general population. The purpose of this study was to determine how hypermobility affects eyes-closed single-limb balance as an indirect measure of proprioception in dancers. The secondary aim was to compare hypermobility and balance across dancer affiliation groups. Data were collected from 45 professional dancers, 11 collegiate modern dancers, 227 student dancers, and 15 pre-professional dancers during routine dance screens. Dancer hypermobility status was assessed via an eight-point Beighton-Horan Laxity test. Single-limb balance time, in seconds, was assessed in parallel position with the eyes closed. Hypermobile (HM) and non-hypermobile (NHM) dancers showed very similar balance times (HM median: 36.5 seconds; NHM median: 33.0 seconds; p = 0.982). Hypermobility was not significantly different between dancer affiliation groups (p = 0.154): 47% in ballet academy students, 27% in collegiate modern dancers, 62% in pre-professional dancers, and 36% in professional dancers. The student, pre-professional, and professional ballet dancers all demonstrated longer balance times than the collegiate modern dancers; however, this difference was only significant between the professional ballet dancers and collegiate modern dancers (p = 0.026). Dancers demonstrated a higher prevalence of hypermobility than what has been reported for the general population. Joint hypermobility did not affect eyes-closed single-limb balance time. Future studies are needed to determine if joint hypermobility affects more sensitive measures of proprioception and risk of injury.

  3. Genetic analysis of autoimmune gld mice. I. Identification of a restriction fragment length polymorphism closely linked to the gld mutation within a conserved linkage group (United States)


    A linkage map of distal mouse chromosome 1 was generated using restriction fragment length polymorphism (RFLP) analysis of DNA prepared from 95 [C3H-gld/gld X Mus spretus)F1 X C3H-gld/gld] backcross mice. The gene order was: (centromere) C4bp, Ren-1,2, Ly-5, [At-3/gld], Apoa-2/Ly-17, Spna-1 (telomere). All mice expressing the phenotype of gld homozygotes were homozygous for the At-3 RFLP characteristic of C3H mice and none of the mice heterozygous for At-3 RFLPs had characteristics of gld homozygotes, demonstrating close linkage between these genes. The identification of an RFLP closely linked to the gld gene provides a starting point for the identification of a genetic defect that results in abnormal T cells and autoimmune disease. PMID:2894402

  4. Genetics Home Reference: MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (United States)

    ... DNA depletion syndrome MPV17-related hepatocerebral mitochondrial DNA depletion syndrome Printable PDF Open All Close All Enable ... collapse boxes. Description MPV17 -related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause ...

  5. Anxiety, depression and PTSD-related symptoms in spouses and close relatives of burn survivors: When the supporter needs to be supported. (United States)

    Bond, Suzie; Gourlay, Catherine; Desjardins, Alexandra; Bodson-Clermont, Paule; Boucher, Marie-Ève


    The aim of the study was to assess the prevalence of anxiety, depression and PTSD-related symptoms reported by spouses and close relatives of adult burn survivors. Potential associations between these symptoms and variables such as the severity of the burn were also explored. Participants were spouses (n=31) and close relatives (n=25) of hospitalized patients with acute burns. Anxiety and depression symptoms were assessed by the Hospital Distress Anxiety and Depression Scale and PTSD-related symptoms by the Modified PTSD Symptom Scale at both admission to and discharge from the burn unit. At admission, 77% of spouses and 56% of close relatives of burn patients reported anxiety, depression or PTSD-related symptoms in the clinical range. While spouses had higher scores than close relatives on symptom measures, significant differences were only established for anxiety symptoms (p<.02). A significant effect was found for gender, with women reporting more anxiety (p=.01) and depression (p=.02) symptoms than men. Results also showed a main effect for time, with anxiety (p<.0001), depression (p<.0001) and PTSD-related (p<.0001) symptoms being higher at admission than at discharge. Variables associated with the index patient, such as total body surface area burned, length of stay, number of ventilated days, facial burns, or level of care at admission, were not associated with outcome measures. Spouses and close relatives of burn survivors showed high levels of psychological distress in the first few days following admission, and more than a quarter still reported symptoms in the clinical range at discharge. Our analysis points to the need to offer psychological support and guidance to family members so that they can in turn provide effective support to the burn survivor. Copyright © 2016 Elsevier Ltd and ISBI. All rights reserved.

  6. Co-evolution in a landrace meta-population: two closely related pathogens interacting with the same host can lead to different adaptive outcomes. (United States)

    Rau, Domenico; Rodriguez, Monica; Leonarda Murgia, Maria; Balmas, Virgilio; Bitocchi, Elena; Bellucci, Elisa; Nanni, Laura; Attene, Giovanna; Papa, Roberto


    We examined the local adaptation patterns in a system comprising several interconnected heterogeneous plant populations from which populations of two phylogenetically closely related pathogens were also sampled. The host is Hordeum vulgare (cultivated barley); the pathogens are Pyrenophora teres f. teres (net form) and Pyrenophora teres f. maculata (spot form), the causal agents of barley net blotch. We integrated two approaches, the comparison between the population structures of the host and the pathogens, and a cross-inoculation test. We demonstrated that two closely related pathogens with very similar niche specialisation and life-styles can give rise to different co-evolutionary outcomes on the same host. Indeed, we detected local adaptation for the net form of the pathogen but not for the spot form. We also provided evidence that an a-priori well-known resistance quantitative-trait-locus on barley chromosome 6H is involved in the co-evolutionary 'arms race' between the plant and the net-form pathogen. Moreover, data suggested latitudinal clines of host resistance and that different ecological conditions can result in differential selective pressures at different sites. Our data are of interest for on-farm conservation of plant genetic resources, as also in establishing efficient breeding programs and strategies for deployment of resistance genes of P. teres.

  7. The Pathogenomic Sequence Analysis of B. cereus and B.thuringiensis Isolates Closely Related to Bacillus anthracis

    Energy Technology Data Exchange (ETDEWEB)

    Han, Cliff S.; Xie, Gary; Challacombe, Jean F.; Altherr, MichaelR.; Smriti, B.; Bruce, David; Campbell, Connie S.; Campbell, Mary L.; Chen, Jin; Chertkov, Olga; Cleland, Cathy; Dimitrijevic-Bussod, M.; Doggett, Norman A.; Fawcett, John J.; Glavina, Tijana; Goodwin, Lynne A.; Hill, Karen K.; Hitchcock, Penny; Jackson, Paul J.; Keim, Paul; Kewalramani, Avinash Ramesh; Longmire, Jon; Lucas, Susan; Malfatti,Stephanie; McMurry, Kim; Meincke, Linda J.; Misra, Monica; Moseman,Bernice L.; Mundt, Mark; Munk, A. Christine; Okinaka, Richard T.; Parson-Quintana, B.; Reilly, Lee P.; Richardson, Paul; Robinson, DonnaL.; Rubin, Eddy; Saunders, Elizabeth; Tapia, Roxanne; Tesmer, Judith G.; Thayer, Nina; Thompson, Linda S.; Tice, Hope; Ticknor, Lawrence O.; Wills, Patti L.; Gilna, Payl; Brettin, Thomas S.


    The sequencing and analysis of two close relatives of Bacillus anthracis are reported. AFLP analysis of over 300 isolates of B.cereus, B. thuringiensis and B. anthracis identified two isolates as being very closely related to B. anthracis. One, a B. cereus, BcE33L, was isolated from a zebra carcass in Nambia; the second, a B. thuringiensis, 97-27, was isolated from a necrotic human wound. The B. cereus appears to be the closest anthracis relative sequenced to date. A core genome of over 3,900 genes was compiled for the Bacillus cereus group, including Banthracis. Comparative analysis of these two genomes with other members of the B. cereus group provides insight into the evolutionary relationships among these organisms. Evidence is presented that differential regulation modulates virulence, rather than simple acquisition of virulence factors. These genome sequences provide insight into the molecular mechanisms contributing to the host range and virulence of this group of organisms.

  8. Calcium signaling in closely related protozoan groups (Alveolata): non-parasitic ciliates (Paramecium, Tetrahymena) vs. parasitic Apicomplexa (Plasmodium, Toxoplasma). (United States)

    Plattner, H; Sehring, I M; Mohamed, I K; Miranda, K; De Souza, W; Billington, R; Genazzani, A; Ladenburger, E-M


    The importance of Ca2+-signaling for many subcellular processes is well established in higher eukaryotes, whereas information about protozoa is restricted. Recent genome analyses have stimulated such work also with Alveolates, such as ciliates (Paramecium, Tetrahymena) and their pathogenic close relatives, the Apicomplexa (Plasmodium, Toxoplasma). Here we compare Ca2+ signaling in the two closely related groups. Acidic Ca2+ stores have been characterized in detail in Apicomplexa, but hardly in ciliates. Two-pore channels engaged in Ca2+-release from acidic stores in higher eukaryotes have not been stingently characterized in either group. Both groups are endowed with plasma membrane- and endoplasmic reticulum-type Ca2+-ATPases (PMCA, SERCA), respectively. Only recently was it possible to identify in Paramecium a number of homologs of ryanodine and inositol 1,3,4-trisphosphate receptors (RyR, IP3R) and to localize them to widely different organelles participating in vesicle trafficking. For Apicomplexa, physiological experiments suggest the presence of related channels although their identity remains elusive. In Paramecium, IP3Rs are constitutively active in the contractile vacuole complex; RyR-related channels in alveolar sacs are activated during exocytosis stimulation, whereas in the parasites the homologous structure (inner membrane complex) may no longer function as a Ca2+ store. Scrutinized comparison of the two closely related protozoan phyla may stimulate further work and elucidate adaptation to parasitic life. See also "Conclusions" section. Copyright © 2012 Elsevier Ltd. All rights reserved.

  9. Genetic differentiation in geographically close populations of the water rat Nectomys squamipes (Rodentia, Sigmodontinae from the Brazilian Atlantic Forest

    Directory of Open Access Journals (Sweden)

    Maroja L.S.


    Full Text Available We examined the genetic structure and the effects of a bottleneck in populations of the water rat Nectomys squamipes, a primary host of Schistosoma mansoni. Eight microsatellite loci were studied in 7 populations from the Sumidouro region of the Brazilian state of Rio de Janeiro. Our data, covering a four-year period during which a bottleneck occurred, revealed substantial variation (6-31 alleles per locus and high levels of both observed (0.718-0.789 and expected (0.748-0.832 heterozygosity. Most populations were in Hardy-Weinberg equilibrium without linkage disequilibrium between loci. Overall average genetic differentiation between populations (estimated with the F ST (q and R ST (r analogues was 0.037 for q and 0.060 for r. There was significant allelic and genotypic differentiation between populations, especially in pairwise comparisons that included the most geographically isolated population. Direct migration estimates showed a low rate of migration, indicating that infected N. squamipes populations had a limited ability to spread S. mansoni. When the pre- and post-bottleneck populations were compared there was no detectable reduction in heterozygosity or allele number, although a significant excess of heterozygosity was detected in the post-bottleneck population.

  10. Geography of Genetic Structure in Barley Wild Relative Hordeum vulgare subsp. spontaneum in Jordan. (United States)

    Thormann, Imke; Reeves, Patrick; Reilley, Ann; Engels, Johannes M M; Lohwasser, Ulrike; Börner, Andreas; Pillen, Klaus; Richards, Christopher M


    Informed collecting, conservation, monitoring and utilization of genetic diversity requires knowledge of the distribution and structure of the variation occurring in a species. Hordeum vulgare subsp. spontaneum (K. Koch) Thell., a primary wild relative of barley, is an important source of genetic diversity for barley improvement and co-occurs with the domesticate within the center of origin. We studied the current distribution of genetic diversity and population structure in H. vulgare subsp. spontaneum in Jordan and investigated whether it is correlated with either spatial or climatic variation inferred from publically available climate layers commonly used in conservation and ecogeographical studies. The genetic structure of 32 populations collected in 2012 was analyzed with 37 SSRs. Three distinct genetic clusters were identified. Populations were characterized by admixture and high allelic richness, and genetic diversity was concentrated in the northern part of the study area. Genetic structure, spatial location and climate were not correlated. This may point out a limitation in using large scale climatic data layers to predict genetic diversity, especially as it is applied to regional genetic resources collections in H. vulgare subsp. spontaneum.

  11. Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics

    Directory of Open Access Journals (Sweden)

    Liu Melissa M


    Full Text Available Abstract Age-related macular degeneration (AMD is a complex and multifaceted disease involving contributions from both genetic and environmental influences. Previous work exploring the genetic contributions of AMD has implicated numerous genomic regions and a variety of candidate genes as modulators of AMD susceptibility. Nevertheless, much of this work has revolved around single-nucleotide polymorphisms (SNPs, and it is apparent that a significant portion of the heritability of AMD cannot be explained through these mechanisms. In this review, we consider the role of common variants, rare variants, copy number variations, epigenetics, microRNAs, and mitochondrial genetics in AMD. Copy number variations in regulators of complement activation genes (CFHR1 and CFHR3 and glutathione S transferase genes (GSTM1 and GSTT1 have been associated with AMD, and several additional loci have been identified as regions of potential interest but require further evaluation. MicroRNA dysregulation has been linked to the retinal pigment epithelium degeneration in geographic atrophy, ocular neovascularization, and oxidative stress, all of which are hallmarks in the pathogenesis of AMD. Certain mitochondrial DNA haplogroups and SNPs in mitochondrially encoded NADH dehydrogenase genes have also been associated with AMD. The role of these additional mechanisms remains only partly understood, but the importance of their further investigation is clear to elucidate more completely the genetic basis of AMD.

  12. Genetic diversity is related to climatic variation and vulnerability in threatened bull trout (United States)

    Kovach, Ryan; Muhlfeld, Clint C.; Wade, Alisa A.; Hand, Brian K.; Whited, Diane C.; DeHaan, Patrick W.; Al-Chokhachy, Robert K.; Luikart, Gordon


    Understanding how climatic variation influences ecological and evolutionary processes is crucial for informed conservation decision-making. Nevertheless, few studies have measured how climatic variation influences genetic diversity within populations or how genetic diversity is distributed across space relative to future climatic stress. Here, we tested whether patterns of genetic diversity (allelic richness) were related to climatic variation and habitat features in 130 bull trout (Salvelinus confluentus) populations from 24 watersheds (i.e., ~4–7th order river subbasins) across the Columbia River Basin, USA. We then determined whether bull trout genetic diversity was related to climate vulnerability at the watershed scale, which we quantified on the basis of exposure to future climatic conditions (projected scenarios for the 2040s) and existing habitat complexity. We found a strong gradient in genetic diversity in bull trout populations across the Columbia River Basin, where populations located in the most upstream headwater areas had the greatest genetic diversity. After accounting for spatial patterns with linear mixed models, allelic richness in bull trout populations was positively related to habitat patch size and complexity, and negatively related to maximum summer temperature and the frequency of winter flooding. These relationships strongly suggest that climatic variation influences evolutionary processes in this threatened species and that genetic diversity will likely decrease due to future climate change. Vulnerability at a watershed scale was negatively correlated with average genetic diversity (r = −0.77;P bull trout and other imperiled species. Genetic diversity is already depressed where climatic vulnerability is highest; it will likely erode further in the very places where diversity may be most needed for future persistence.

  13. Molecular characterization of a naturally occurring intraspecific recombinant begomovirus with close relatives widespread in southern Arabia

    KAUST Repository

    Al-Saleh, Mohammed A


    in tomato closely resembled those observed in field infected tomato plants, indicating the virus is the causal agent of the leaf curl disease. The symptoms that developed in tomato seedlings closely resembled those observed in field infected tomato plants, indicating that ToLCSDV is the causal agent of the leaf curl disease in Gezira. 2014 Al-Saleh et al.; licensee BioMed Central Ltd.

  14. New insights into the phylogeny and worldwide dispersion of two closely related nematode species, Bursaphelenchus xylophilus and Bursaphelenchus mucronatus.

    Directory of Open Access Journals (Sweden)

    Filipe Pereira

    Full Text Available The pinewood nematode, Bursaphelenchus xylophilus, is one of the greatest threats to coniferous forests worldwide, causing severe ecological damage and economic loss. The biology of B. xylophilus is similar to that of its closest relative, B. mucronatus, as both species share food resources and insect vectors, and have very similar morphological characteristics, although little pathogenicity to conifers has been associated with B. mucronatus. Using both nuclear and mitochondrial DNA markers, we show that B. xylophilus and B. mucronatus form distinct phylogenetic groups with contrasting phylogeographic patterns. B. xylophilus presents lower levels of intraspecific diversity than B. mucronatus, as expected for a species that evolved relatively recently through geographical or reproductive isolation. Genetic diversity was particularly low in recently colonised areas, such as in southwestern Europe. By contrast, B. mucronatus displays high levels of genetic diversity and two well-differentiated clades in both mitochondrial and nuclear DNA phylogenies. The lack of correlation between genetic and geographic distances in B. mucronatus suggests intense gene flow among distant regions, a phenomenon that may have remained unnoticed due to the reduced pathogenicity of the species. Overall, our findings suggest that B. xylophilus and B. mucronatus have different demographic histories despite their morphological resemblance and ecological overlap. These results suggest that Bursaphelenchus species are a valuable model for understanding the dispersion of invasive species and the risks posed to native biodiversity and ecosystems.

  15. A new vanilla species from Costa Rica closely related to V. planifolia (Orchidaceae

    Directory of Open Access Journals (Sweden)

    José B. Azofeifa-Bolaños


    Full Text Available We describe a new vanilla species growing in sympatry with Vanilla planifolia Jacks. ex Andrews (Orchidaceae in the province of Limón, Caribbean coast of Costa Rica. The morphology of the reproductive and vegetative organs observed on vines cultivated under shade-house, the nuclear (Internal Transcribed Spacer and plastid (matK nucleotide sequences, as well as the contents of aromatic compounds measured in ripe fruits, show that this species is close to but distinct from V. planifolia. The name V. sotoarenasii M.Pignal, Azofeifa-Bolaños & Grisoni sp. nov. is proposed for this new Vanilla species endemic in Costa Rica. It is especially distinguished from V. planifolia by a reduction of about 30% of the size of the fruits and flowers, by a divergence of ITS sequences for at least two species-conserved nucleotides compared to seven other species of the V. planifolia group, and by the presence of anisic compounds and low content of phenolic compounds (including vanillin in the fruits. These results confirmed the extension of the area of distribution of V. planifolia southward to Costa Rica, where a recent speciation process occurred. Because of its particular agronomic and aromatic properties, V. sotoarenasii sp. nov. could represent a valuable biological resource for the vanilla industry.

  16. Endogenous lentivirus in Malayan colugo (Galeopterus variegatus), a close relative of primates. (United States)

    Hron, Tomáš; Fábryová, Helena; Pačes, Jan; Elleder, Daniel


    A significant fraction of mammalian genomes is composed of endogenous retroviral (ERV) sequences that are formed by germline infiltration of various retroviruses. In contrast to other retroviral genera, lentiviruses only rarely form ERV copies. We performed a computational search aimed at identification of novel endogenous lentiviruses in vertebrate genomes. Using the in silico strategy, we have screened 104 publicly available vertebrate genomes for the presence of endogenous lentivirus sequences. In addition to the previously described cases, the search revealed the presence of endogenous lentivirus in the genome of Malayan colugo (Galeopterus variegatus). At least three complete copies of this virus, denoted ELVgv, were detected in the colugo genome, and approximately one hundred solo LTR sequences. The assembled consensus sequence of ELVgv had typical lentivirus genome organization including three predicted accessory genes. Phylogenetic analysis placed this virus as a distinct subgroup within the lentivirus genus. The time of insertion into the dermopteran lineage was estimated to be more than thirteen million years ago. We report the discovery of the first endogenous lentivirus in the mammalian order Dermoptera, which is a taxon close to the Primates. Lentiviruses have infiltrated the mammalian germline several times across millions of years. The colugo virus described here represents possibly the oldest documented endogenization event and its discovery can lead to new insights into lentivirus evolution. This is also the first report of an endogenous lentivirus in an Asian mammal, indicating a long-term presence of this retrovirus family in Asian continent.

  17. Characteristics of genetics-related news content in Black weekly newspapers. (United States)

    Caburnay, C A; Babb, P; Kaphingst, K A; Roberts, J; Rath, S


    BACKGROUND/AIMS/OBJECTIVES: The media are an important source of health information, especially for those with less access to regular health care. Black news outlets such as Black newspapers are a source of health information for African Americans. This study characterized media coverage of genetics-related information in Black weekly newspapers and general audience newspapers from the same communities. All health stories in a sample of 24 Black weekly newspapers and 12 general audience newspapers from January 2004 to December 2007 were reviewed for genetics-related stories. These stories were further coded for both journalistic and public health variables. Of all health-related stories identified, only 2% (n = 357) were considered genetics related. Genetics-related stories in Black newspapers - compared to those in general audience newspapers - were larger, more locally and racially relevant, and more likely to contain recommendations or action steps to improve health or reduce disease risks and to mention the importance of knowing one's family history. Stories in general audience newspapers were more likely to discuss causes of disease, mention genetic testing or therapy, and suggest a high/moderate degree of genetic determinism. Black newspapers are a viable communication channel to disseminate findings and implications of human genome research to African American audiences.

  18. Relative humidity effects on water vapour fluxes measured with closed-path eddy-covariance systems with short sampling lines

    DEFF Research Database (Denmark)

    Fratini, Gerardo; Ibrom, Andreas; Arriga, Nicola


    It has been formerly recognised that increasing relative humidity in the sampling line of closed-path eddy-covariance systems leads to increasing attenuation of water vapour turbulent fluctuations, resulting in strong latent heat flux losses. This occurrence has been analyzed for very long (50 m...... from eddy-covariance systems featuring short (4 m) and very short (1 m) sampling lines running at the same clover field and show that relative humidity effects persist also for these setups, and should not be neglected. Starting from the work of Ibrom and co-workers, we propose a mixed method...... and correction method proposed here is deemed applicable to closed-path systems featuring a broad range of sampling lines, and indeed applicable also to passive gases as a special case. The methods described in this paper are incorporated, as processing options, in the free and open-source eddy...

  19. Embarrassment When Illness Strikes A Close Relative: A World Mental Health Survey Consortium Multi-Site Study (United States)

    Ahmedani, Brian K.; Kubiak, Sheryl Pimlott; Kessler, Ronald C.; de Graaf, Ron; Alonso, Jordi; Bruffaerts, Ronny; Zarkov, Zahari; Viana, Maria Carmen; Huang, Y.Q.; Hu, Chiyi; Posada-Villa, Jose A.; Lepine, Jean-Pierre; Angermeyer, Matthias C.; de Girolamo, Giovanni; Karam, Aimee N.; Medina-Mora, Maria Elena; Gureje, Oye; Ferry, Finola; Sagar, Rajesh; Anthony, James C.


    Background This global study seeks to estimate the degree to which a family member might feel embarrassed when a close relative is suffering from an alcohol, drug, or mental health condition (ADMC) versus a general medical condition (GMC). To date, most studies have considered embarrassment and stigma in society and internalized by the afflicted individual, but have not assessed family embarrassment in a large scale study. Method In 16 sites of the World Mental Health Surveys (WMHS), standardized assessments were completed including items on family embarrassment. Site matching was used to constrain local socially shared determinants of stigma-related feelings, enabling a conditional logistic regression model that estimates the embarrassment close relatives may hold in relation to family members affected by an ADMC, GMC, or both conditions. Results There was a statistically robust association such that subgroups with an ADMC-affected relative were more likely to feel embarrassed as compared to subgroups with a relative affected by a GMC (p<0.001), even with covariate adjustments for age and sex. Conclusions The pattern of evidence from this research is consistent with conceptual models for interventions that target individual- and family-level stigma-related feelings of embarrassment as might be part of the obstacles to effective early intervention and treatment for ADMC conditions. Macro-level interventions are underway, but micro-level interventions also may be required among family members, along with care for each person with an ADMC. PMID:23298443

  20. Wing pattern morphology of three closely related Melitaea (Lepidoptera, Nymphalidae) species reveals highly inaccurate external morphology-based species identification


    Jugovic,Jure; Koren,Toni


    Wing morphology of the three closely related species of Melitaea – M. athalia (Rottemburg, 1775), M. aurelia (Nickerl, 1850) and M. britomartis Assmann, 1847 – co-occurring in the Balkans (SE Europe) was investigated in detail through visual inspection, morphometric analysis and multivariate statistical analysis. Results are compared to recent phylogenetic studies, searching for concordant patterns and discrepancies between the two approaches. The morphology of the genitalic structures is als...

  1. Fine definition of the pedigree haplotypes of closely related rice cultivars by means of genome-wide discovery of single-nucleotide polymorphisms. (United States)

    Yamamoto, Toshio; Nagasaki, Hideki; Yonemaru, Jun-ichi; Ebana, Kaworu; Nakajima, Maiko; Shibaya, Taeko; Yano, Masahiro


    To create useful gene combinations in crop breeding, it is necessary to clarify the dynamics of the genome composition created by breeding practices. A large quantity of single-nucleotide polymorphism (SNP) data is required to permit discrimination of chromosome segments among modern cultivars, which are genetically related. Here, we used a high-throughput sequencer to conduct whole-genome sequencing of an elite Japanese rice cultivar, Koshihikari, which is closely related to Nipponbare, whose genome sequencing has been completed. Then we designed a high-throughput typing array based on the SNP information by comparison of the two sequences. Finally, we applied this array to analyze historical representative rice cultivars to understand the dynamics of their genome composition. The total 5.89-Gb sequence for Koshihikari, equivalent to 15.7 x the entire rice genome, was mapped using the Pseudomolecules 4.0 database for Nipponbare. The resultant Koshihikari genome sequence corresponded to 80.1% of the Nipponbare sequence and led to the identification of 67,051 SNPs. A high-throughput typing array consisting of 1917 SNP sites distributed throughout the genome was designed to genotype 151 representative Japanese cultivars that have been grown during the past 150 years. We could identify the ancestral origin of the pedigree haplotypes in 60.9% of the Koshihikari genome and 18 consensus haplotype blocks which are inherited from traditional landraces to current improved varieties. Moreover, it was predicted that modern breeding practices have generally decreased genetic diversity Detection of genome-wide SNPs by both high-throughput sequencer and typing array made it possible to evaluate genomic composition of genetically related rice varieties. With the aid of their pedigree information, we clarified the dynamics of chromosome recombination during the historical rice breeding process. We also found several genomic regions decreasing genetic diversity which might be

  2. Genetics Home Reference: age-related hearing loss (United States)

    ... quality of life. Because affected individuals have trouble understanding speech, the condition affects their ability to communicate. It can contribute to social isolation, depression, and loss of self-esteem. Age-related hearing loss also causes safety issues if individuals become ...

  3. Age-related maculopathy: A genetic and epidemiological approach

    NARCIS (Netherlands)

    J.J.M. Willemse-Assink (Jacqueline)


    textabstractIn the 19th century, age-related maculopathy (ARM) was described for the first time as an agerelated abnormality of the macula lutea. ARM consists of a variety of clinical signs, from the early stages with soft distinct drusen, indistinct drusen and pigment alterations up to the late

  4. Comparative genomics analysis of Streptococcus agalactiae reveals that isolates from cultured tilapia in China are closely related to the human strain A909. (United States)

    Liu, Guangjin; Zhang, Wei; Lu, Chengping


    Streptococcus agalactiae, also referred to as Group B Streptococcus (GBS), is a frequent resident of the rectovaginal tract in humans, and a major cause of neonatal infection. In addition, S. agalactiae is a known fish pathogen, which compromises food safety and represents a zoonotic hazard. The complete genome sequence of the piscine S. agalactiae isolate GD201008-001 was compared with 14 other piscine, human and bovine strains to explore their virulence determinants, evolutionary relationships and the genetic basis of host tropism in S. agalactiae. The pan-genome of S. agalactiae is open and its size increases with the addition of newly sequenced genomes. The core genes shared by all isolates account for 50 ~ 70% of any single genome. The Chinese piscine isolates GD201008-001 and ZQ0910 are phylogenetically distinct from the Latin American piscine isolates SA20-06 and STIR-CD-17, but are closely related to the human strain A909, in the context of the clustered regularly interspaced short palindromic repeats (CRISPRs), prophage, virulence-associated genes and phylogenetic relationships. We identified a unique 10 kb gene locus in Chinese piscine strains. Isolates from cultured tilapia in China have a close genomic relationship with the human strain A909. Our findings provide insight into the pathogenesis and host-associated genome content of piscine S. agalactiae isolated in China.

  5. Effects of turbidity on the neural structures of two closely related ...

    African Journals Online (AJOL)

    The neural structures of the sister species Pseudobarbus afer and P. asper were compared. P. afer, a redfin minnow which inhabits clear, perennial mountain streams, was found to have larger neural structures related to vision than P. asper, which inhabits turbid, intermittent streams of the Gamtoos River system, ...

  6. The close relation between birth, abortion and employment rates in Sweden from 1980 to 2004. (United States)

    Rahmqvist, Mikael


    Birth and abortion rates in Sweden have fluctuated since 1980 while the proportion between the rates are the same at the beginning and end of the period. An increase in birth rates in the late 1980s resulted in a peak in 1991 and 1992, with 124,000 live births each year. Thereafter followed a steady decline in the rate until 2000, when the number of live births was about 90,000. At that point, the trend changed to an increase. The aim of this analysis was to investigate any relation between employment rates and the number of live births among women aged 20-34, and at the same time to explore the trend for abortion rates compared to the trend for live births. The relation between employment status and live birth rate is statistically more significant for women than men, and the rates have a higher correlation for the period after 1986. Young adults in this age group are vulnerable to economic cycles that can explain this covariation but the decline in birth rates in economically developed societies has multidimensional aspects and many other possible explanations. Much has been done in recent years in Sweden to decrease household inequality for families with children to avoid the risk of relative poverty, but the fact that there is no explicit health policy to reduce the abortion level that remain unchanged since the early 1980s may appear as a notable lack of strategy in a country with many other health-related goals.

  7. Closed-loop surface-related multiple elimination and its application to simultaneous data reconstruction

    NARCIS (Netherlands)

    Lopez Angarita, G.A.; Verschuur, D.J.


    Surface-related multiple elimination (SRME) is one of the most commonly used methods for suppressing surface multiples. However, to obtain an accurate surface multiple estimation, dense source and receiver sampling is required. The traditional approach to this problem is performing data

  8. Veluticeps fasciculata sp. nov. (Gloeophyllaceae, Basidiomycota), a close relative to V. berkeleyi (United States)

    Jiao Yang; Karen K. Nakasone; Shuang-Hui. He


    A new brown-rot fungal species, Veluticeps fasciculata, is described from southern China. It is characterized by perennial effused basidiocarps with smooth or tuberculose hymenophore, nodose-septate generative hyphae, fasciculate cystidia (as hyphal pegs in hymenophore) and relatively small basidiospores. It occurs on wood of Cunninghamia...

  9. New criteria for selecting the origin of DNA replication in Wolbachia and closely related bacteria

    DEFF Research Database (Denmark)

    Ioannidis, Panagiotis; Dunning Hotopp, Julie C; Sapountzis, Panagiotis


    , the origin of DNA replication (ori) regions were identified in silico for Wolbachia strains and eleven other related bacteria belonging to Ehrlichia, Anaplasma, and Rickettsia genera. These features include DnaA-, CtrA- and IHF-binding sites as well as the flanking genes in C. crescentus. The Wolbachia ori...

  10. Wayward Relations: Novel Searches of the Donor-Conceived for Genetic Kinship. (United States)

    Klotz, Maren


    Searching and finding supposedly anonymous sperm donors or half-siblings by diverting direct-to-consumer genetic testing is a novel phenomenon. I refer to such new forms of kinship as 'wayward relations,' because they are often officially unintended and do not correspond to established kinship roles. Drawing on data mostly from the United Kingdom, Germany and the United States, I argue that wayward relations are a highly contemporary means of asserting agency in a technological world characterized by tensions over knowledge acquisition. I make the case that such relations reaffirm the genetic grounding of kinship, but do not displace other ways of relating--they are complementary not colonizing. Wayward relations challenge the gate-keeper status of fertility clinics and regulators over genetic knowledge and classical notions of privacy.

  11. Comparative genomics of four closely related Clostridium perfringens bacteriophages reveals variable evolution among core genes with therapeutic potential

    Directory of Open Access Journals (Sweden)

    Siragusa Gregory R


    Full Text Available Abstract Background Because biotechnological uses of bacteriophage gene products as alternatives to conventional antibiotics will require a thorough understanding of their genomic context, we sequenced and analyzed the genomes of four closely related phages isolated from Clostridium perfringens, an important agricultural and human pathogen. Results Phage whole-genome tetra-nucleotide signatures and proteomic tree topologies correlated closely with host phylogeny. Comparisons of our phage genomes to 26 others revealed three shared COGs; of particular interest within this core genome was an endolysin (PF01520, an N-acetylmuramoyl-L-alanine amidase and a holin (PF04531. Comparative analyses of the evolutionary history and genomic context of these common phage proteins revealed two important results: 1 strongly significant host-specific sequence variation within the endolysin, and 2 a protein domain architecture apparently unique to our phage genomes in which the endolysin is located upstream of its associated holin. Endolysin sequences from our phages were one of two very distinct genotypes distinguished by variability within the putative enzymatically-active domain. The shared or core genome was comprised of genes with multiple sequence types belonging to five pfam families, and genes belonging to 12 pfam families, including the holin genes, which were nearly identical. Conclusions Significant genomic diversity exists even among closely-related bacteriophages. Holins and endolysins represent conserved functions across divergent phage genomes and, as we demonstrate here, endolysins can have significant variability and host-specificity even among closely-related genomes. Endolysins in our phage genomes may be subject to different selective pressures than the rest of the genome. These findings may have important implications for potential biotechnological applications of phage gene products.

  12. Genetic variants in hormone-related genes and risk of breast cancer.

    Directory of Open Access Journals (Sweden)

    Tess Clendenen

    Full Text Available Sex hormones play a key role in the development of breast cancer. Certain polymorphic variants (SNPs and repeat polymorphisms in hormone-related genes are associated with sex hormone levels. However, the relationship observed between these genetic variants and breast cancer risk has been inconsistent. We conducted a case-control study nested within two prospective cohorts to assess the relationship between specific genetic variants in hormone-related genes and breast cancer risk. In total, 1164 cases and 2111 individually-matched controls were included in the study. We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. Our results suggest that these genetic variants do not have a strong effect on breast cancer risk.

  13. CDKL5-Related Disorders: From Clinical Description to Molecular Genetics. (United States)

    Bahi-Buisson, N; Bienvenu, T


    Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been described in girls with Rett-like features and early-onset epileptic encephalopathy including infantile spasms. To date, with more than 80 reported cases, the phenotype of CDKL5-related encephalopathy is better defined. The main features consist of early-onset seizures starting before 5 months of age, severe mental retardation with absent speech and Rett-like features such as hand stereotypies and deceleration of head growth. On the other hand, neuro-vegetative signs and developmental regression are rare in CDKL5 mutation patients. The CDKL5 gene encodes a serine threonine kinase protein which is characterized by a catalytic domain and a long C-terminal extension involved in the regulation of the catalytic activity of CDKL5 and in the sub-nuclear localization of the protein. To our knowledge, more than 70 different point mutations have been described including missense mutations within the catalytic domain, nonsense mutations causing the premature termination of the protein distributed in the entire open reading frame, splice variants, and frameshift mutations. Additionally, CDKL5 mutations have recently been described in 7 males with a more severe epileptic encephalopathy and a worse outcome compared to female patients. Finally, about 23 male and female patients have been identified with gross rearrangements encompassing all or part of the CDKL5 gene, with a phenotype reminiscent of CDKL5-related encephalopathy combined with dysmorphic features. Even if recent data clearly indicate that CDKL5 plays an important role in brain function, the protein remains largely uncharacterized. Phenotype-genotype correlation is additionally hampered by the relatively small number of patients described.

  14. Bud structure, position and fate generate various branching patterns along shoots of closely related Rosaceae species: a review

    Directory of Open Access Journals (Sweden)

    Evelyne eCostes


    Full Text Available Branching in temperate plants is closely linked to bud fates, either floral or vegetative. Here, we review how the fate of meristematic tissues contained in buds and their position along a shoot imprint specific branching patterns which differ among species. Through examples chosen in closely related species in different genera of the Rosaceae family, a panorama of patterns is apparent. Patterns depend on whether vegetative and floral buds are borne individually or together in mixed buds, develop as the shoot grows or after a rest period, and are located in axillary or terminal positions along the parent shoot. The resulting branching patterns are conserved among varieties in a given species but progressively change with the parent shoot length during plant ontogeny. They can also be modulated by agronomic and environmental conditions. The existence of various organizations in the topology and fate of meristematic tissues and their appendages in closely related species questions the between-species conservation of physiological and molecular mechanisms leading to bud outgrowth vs quiescence and to floral induction vs vegetative development.

  15. Bud structure, position and fate generate various branching patterns along shoots of closely related Rosaceae species: a review. (United States)

    Costes, Evelyne; Crespel, Laurent; Denoyes, Béatrice; Morel, Philippe; Demene, Marie-Noëlle; Lauri, Pierre-Eric; Wenden, Bénédicte


    Branching in temperate plants is closely linked to bud fates, either floral or vegetative. Here, we review how the fate of meristematic tissues contained in buds and their position along a shoot imprint specific branching patterns which differ among species. Through examples chosen in closely related species in different genera of the Rosaceae family, a panorama of patterns is apparent. Patterns depend on whether vegetative and floral buds are borne individually or together in mixed buds, develop as the shoot grows or after a rest period, and are located in axillary or terminal positions along the parent shoot. The resulting branching patterns are conserved among varieties in a given species but progressively change with the parent shoot length during plant ontogeny. They can also be modulated by agronomic and environmental conditions. The existence of various organizations in the topology and fate of meristematic tissues and their appendages in closely related species questions the between-species conservation of physiological and molecular mechanisms leading to bud outgrowth vs. quiescence and to floral induction vs. vegetative development.

  16. The evolution of different maternal investment strategies in two closely related desert vertebrates (United States)

    Ennen, Joshua R.; Lovich, Jeffrey E.; Averill-Murray, Roy C.; Yackulic, Charles B.; Agha, Mickey; Loughran, Caleb; Tennant, Laura A.; Sinervo, Barry


    We compared egg size phenotypes and tested several predictions from the optimal egg size (OES) and bet-hedging theories in two North American desert-dwelling sister tortoise taxa, Gopherus agassizii and G. morafkai, that inhabit different climate spaces: relatively unpredictable and more predictable climate spaces, respectively. Observed patterns in both species differed from the predictions of OES in several ways. Mean egg size increased with maternal body size in both species. Mean egg size was inversely related to clutch order in G. agassizii, a strategy more consistent with the within-generation hypothesis arising out of bet-hedging theory or a constraint in egg investment due to resource availability, and contrary to theories of density dependence, which posit that increasing hatchling competition from later season clutches should drive selection for larger eggs. We provide empirical evidence that one species, G. agassizii, employs a bet-hedging strategy that is a combination of two different bet-hedging hypotheses. Additionally, we found some evidence for G. morafkai employing a conservative bet-hedging strategy. (e.g., lack of intra- and interclutch variation in egg size relative to body size). Our novel adaptive hypothesis suggests the possibility that natural selection favors smaller offspring in late-season clutches because they experience a more benign environment or less energetically challenging environmental conditions (i.e., winter) than early clutch progeny, that emerge under harsher and more energetically challenging environmental conditions (i.e., summer). We also discuss alternative hypotheses of sexually antagonistic selection, which arise from the trade-offs of son versus daughter production that might have different optima depending on clutch order and variation in temperature-dependent sex determination (TSD) among clutches. Resolution of these hypotheses will require long-term data on fitness of sons versus daughters as a function of

  17. Ethical considerations when conducting joint interviews with close relatives or family

    DEFF Research Database (Denmark)

    Voltelen, Barbara; Konradsen, Hanne; Østergaard, Birte


    simultaneously in the healthcare setting. AIM: To collect and share knowledge related to ethical considerations conducting joint interviews. DESIGN AND METHODS: A literature review inspired by the integrative review method was performed. Data were retrieved through a structured search in PubMed, CINAHL......; Conduction joint interviews and Reporting on joint interviews Findings: Participants should be offered the best terms for a constructive, on-going relationship after the joint interview has ended. This obligates the researcher to ensure a safe environment during the joint interview and create a delicate...

  18. Cause and effect analysis by fuzzy relational equations and a genetic algorithm

    International Nuclear Information System (INIS)

    Rotshtein, Alexander P.; Posner, Morton; Rakytyanska, Hanna B.


    This paper proposes using a genetic algorithm as a tool to solve the fault diagnosis problem. The fault diagnosis problem is based on a cause and effect analysis which is formally described by fuzzy relations. Fuzzy relations are formed on the basis of expert assessments. Application of expert fuzzy relations to restore and identify the causes through the observed effects requires the solution to a system of fuzzy relational equations. In this study this search for a solution amounts to solving a corresponding optimization problem. An optimization algorithm is based on the application of genetic operations of crossover, mutation and selection. The genetic algorithm suggested here represents an application in expert systems of fault diagnosis and quality control

  19. A comparison of two closely-related approaches to aerodynamic design optimization (United States)

    Shubin, G. R.; Frank, P. D.


    Two related methods for aerodynamic design optimization are compared. The methods, called the implicit gradient approach and the variational (or optimal control) approach, both attempt to obtain gradients necessary for numerical optimization at a cost significantly less than that of the usual black-box approach that employs finite difference gradients. While the two methods are seemingly quite different, they are shown to differ (essentially) in that the order of discretizing the continuous problem, and of applying calculus, is interchanged. Under certain circumstances, the two methods turn out to be identical. We explore the relationship between these methods by applying them to a model problem for duct flow that has many features in common with transonic flow over an airfoil. We find that the gradients computed by the variational method can sometimes be sufficiently inaccurate to cause the optimization to fail.

  20. A pospiviroid from symptomless portulaca plants closely related to iresine viroid 1. (United States)

    Verhoeven, J Th J; Roenhorst, J W; Hooftman, M; Meekes, E T M; Flores, R; Serra, P


    In symptomless plants of portulaca a potential new pospiviroid was characterized. Analysis by both double and return PAGE showed the presence of a circular RNA. RT-PCR and sequencing revealed a genome of 351 nt with properties characteristic of members of the genus Pospiviroid and with highest sequence identity (circa 80%) with iresine viroid 1 (IrVd-1). The circular RNA from portulaca was shown to replicate independently in its original host, thus showing that it is indeed a viroid. Based on its molecular characteristics, it should be considered a new species. However, since no biological differences have yet been found with its closest relative IrVd-1, the viroid from portulaca does not fulfil all criteria for species demarcation of the ICTV. Copyright © 2015 Elsevier B.V. All rights reserved.

  1. Genetics Home Reference: PPP2R5D-related intellectual disability (United States)

    ... Health Conditions PPP2R5D-related intellectual disability PPP2R5D-related intellectual disability Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description PPP2R5D -related intellectual disability is a neurological disorder characterized by moderate to ...

  2. I'm so tired: biological and genetic mechanisms of cancer-related fatigue

    NARCIS (Netherlands)

    Barsevick, Andrea; Frost, Marlene; Zwinderman, Aeilko; Hall, Per; Halyard, Michele; Abertnethy, Amy P.; Baas, Frank; Barsevick, Andrea M.; Bartels, Meike; Boomsma, Dorret I.; Chauhan, Cynthia; Cleeland, Charles S.; Dueck, Amylou C.; Frost, Marlene H.; Halyard, Michele Y.; Klepstad, Pål; Martin, Nicholas G.; Miaskowski, Christine; Mosing, Miriam; Movsas, Benjamin; van Noorden, Cornelis J. F.; Patrick, Donald L.; Pedersen, Nancy L.; Ropka, Mary E.; Shi, Quiling; Shinozaki, Gen; Singh, Jasvinder A.; Sloan, Jeff A.; Sprangers, Mirjam A. G.; Veenhoven, Ruut; Yang, Ping


    Objective The goal of this paper is to discuss cancer-related fatigue (CRF) and address issues related to the investigation into potential biological and genetic causal mechanisms. The objectives are to: (1) describe CRF as a component of quality of life (QOL); (2) address measurement issues that

  3. Pedigree-based estimation of covariance between dominance deviations and additive genetic effects in closed rabbit lines considering inbreeding and using a computationally simpler equivalent model. (United States)

    Fernández, E N; Legarra, A; Martínez, R; Sánchez, J P; Baselga, M


    Inbreeding generates covariances between additive and dominance effects (breeding values and dominance deviations). In this work, we developed and applied models for estimation of dominance and additive genetic variances and their covariance, a model that we call "full dominance," from pedigree and phenotypic data. Estimates with this model such as presented here are very scarce both in livestock and in wild genetics. First, we estimated pedigree-based condensed probabilities of identity using recursion. Second, we developed an equivalent linear model in which variance components can be estimated using closed-form algorithms such as REML or Gibbs sampling and existing software. Third, we present a new method to refer the estimated variance components to meaningful parameters in a particular population, i.e., final partially inbred generations as opposed to outbred base populations. We applied these developments to three closed rabbit lines (A, V and H) selected for number of weaned at the Polytechnic University of Valencia. Pedigree and phenotypes are complete and span 43, 39 and 14 generations, respectively. Estimates of broad-sense heritability are 0.07, 0.07 and 0.05 at the base versus 0.07, 0.07 and 0.09 in the final generations. Narrow-sense heritability estimates are 0.06, 0.06 and 0.02 at the base versus 0.04, 0.04 and 0.01 at the final generations. There is also a reduction in the genotypic variance due to the negative additive-dominance correlation. Thus, the contribution of dominance variation is fairly large and increases with inbreeding and (over)compensates for the loss in additive variation. In addition, estimates of the additive-dominance correlation are -0.37, -0.31 and 0.00, in agreement with the few published estimates and theoretical considerations. © 2017 Blackwell Verlag GmbH.

  4. Bacillus subtilis Protects Public Goods by Extending Kin Discrimination to Closely Related Species. (United States)

    Lyons, Nicholas A; Kolter, Roberto


    Kin discrimination systems are found in numerous communal contexts like multicellularity and are theorized to prevent exploitation of cooperative behaviors. The kin discrimination system in Bacillus subtilis differs from most other such systems because it excludes nonkin cells rather than including kin cells. Because nonkin are the target of the system, B. subtilis can potentially distinguish degrees of nonkin relatedness, not just kin versus nonkin. We examined this by testing a large strain collection of diverse Bacillus species against B. subtilis in different multicellular contexts. The effects of kin discrimination extend to nearby species, as the other subtilis clade species were treated with the same antagonism as nonkin. Species in the less-related pumilus clade started to display varied phenotypes but were mostly still discriminated against, while cereus clade members and beyond were no longer subject to kin discrimination. Seeking a reason why other species are perceived as antagonistic nonkin, we tested the ability of B. subtilis to steal communally produced surfactant from these species. We found that the species treated as nonkin were the only ones that made a surfactant that B. subtilis could utilize and that nonkin antagonism prevented such stealing when the two strains were mixed. The nonkin exclusion kin discrimination method thus allows effective protection of the cooperative behaviors prevalent in multicellularity while still permitting interactions with more distant species that are not a threat. IMPORTANCE Multicellular systems like bacterial biofilms and swarms rely on cooperative behaviors that could be undermined by exploitative invaders. Discriminating kin from nonkin is one way to help guard against such exploitation but has thus far been examined only intraspecifically, so the phylogenetic range of this important trait is unknown. We tested whether Bacillus subtilis treats other species as nonkin by testing a single strain against a

  5. Bacillus subtilis Protects Public Goods by Extending Kin Discrimination to Closely Related Species

    Directory of Open Access Journals (Sweden)

    Nicholas A. Lyons


    Full Text Available Kin discrimination systems are found in numerous communal contexts like multicellularity and are theorized to prevent exploitation of cooperative behaviors. The kin discrimination system in Bacillus subtilis differs from most other such systems because it excludes nonkin cells rather than including kin cells. Because nonkin are the target of the system, B. subtilis can potentially distinguish degrees of nonkin relatedness, not just kin versus nonkin. We examined this by testing a large strain collection of diverse Bacillus species against B. subtilis in different multicellular contexts. The effects of kin discrimination extend to nearby species, as the other subtilis clade species were treated with the same antagonism as nonkin. Species in the less-related pumilus clade started to display varied phenotypes but were mostly still discriminated against, while cereus clade members and beyond were no longer subject to kin discrimination. Seeking a reason why other species are perceived as antagonistic nonkin, we tested the ability of B. subtilis to steal communally produced surfactant from these species. We found that the species treated as nonkin were the only ones that made a surfactant that B. subtilis could utilize and that nonkin antagonism prevented such stealing when the two strains were mixed. The nonkin exclusion kin discrimination method thus allows effective protection of the cooperative behaviors prevalent in multicellularity while still permitting interactions with more distant species that are not a threat.

  6. Lokiarchaea are close relatives of Euryarchaeota, not bridging the gap between prokaryotes and eukaryotes (United States)

    Forterre, Patrick


    The eocyte hypothesis, in which Eukarya emerged from within Archaea, has been boosted by the description of a new candidate archaeal phylum, “Lokiarchaeota”, from metagenomic data. Eukarya branch within Lokiarchaeota in a tree reconstructed from the concatenation of 36 universal proteins. However, individual phylogenies revealed that lokiarchaeal proteins sequences have different evolutionary histories. The individual markers phylogenies revealed at least two subsets of proteins, either supporting the Woese or the Eocyte tree of life. Strikingly, removal of a single protein, the elongation factor EF2, is sufficient to break the Eukaryotes-Lokiarchaea affiliation. Our analysis suggests that the three lokiarchaeal EF2 proteins have a chimeric organization that could be due to contamination and/or homologous recombination with patches of eukaryotic sequences. A robust phylogenetic analysis of RNA polymerases with a new dataset indicates that Lokiarchaeota and related phyla of the Asgard superphylum are sister group to Euryarchaeota, not to Eukarya, and supports the monophyly of Archaea with their rooting in the branch leading to Thaumarchaeota. PMID:28604769

  7. Inter- and intra-guild interactions related to aphids in nettle (Urtica dioica L.) strips closed to field crops. (United States)

    Alhmedi, A; Haubruge, E; Bodson, B; Francis, F


    A field experiment designed to assess the biodiversity related to nettle strips closed to crops, and more particularly the aphid and related beneficial populations, was established in experimental farm located in Gembloux (Belgium). Margin strips of nettle (Urtica dioica) closed to wheat (Triticum aestivum), green pea (Pisum sativum) and rape (Brassicae napus) fields were investigated. The diversity, abundance of aphids and related predators were analysed according to the plant crop species and the differential pesticide application (treated plot and control). Insects were visually observed every week during all the cultivation season. Two main families of aphidophagous predators were found in all field crops and nettle, the Coccinellidae and Syrphidae. The diversity of the aphidophagous predators was shown to be higher on nettle than in field crops, particularly the Chrysopidae, the Anthocoridae and the Miridae. However, a striking difference of ladybird abundance was observed according to the aphid host plant. In one side, Coccinella septempunctata was much more abundant on Acyrthosiphon pisum infested green pea than on the other host plant species. At the opposite, higher occurrence of Harmonia axyridis was observed on the aphid infested nettle plants than on the crop plants. In particular, none of H. axyridis was found in wheat crop. Also, more than only a significant positive correlation between predator and aphid abundance, specialised relations between particular aphid species and some so-called generalist predators was determined in the fields. Finally, intraguild interactions between the aphidophagous predators was assessed and shown that only a significant negative correlation between Episyrphus balteatus and H. axyridis related to the nettle aphid, Micrlophium carnosum, was observed. The relative distribution of the ladybirds, namely C. septempunctata and H. axyridis according to the host plant, nettle strips and crop plots was discussed in relation to

  8. Swedish farmers attitudes, expectations and fears in relation to growing genetically modified crops. (United States)

    Lehrman, Anna; Johnson, Katy


    This study evaluates a survey about Swedish farmers' attitude towards genetically modified (GM) crops, and their perception concerning potential benefits and drawbacks that cropping of an insect resistant (IR) GM variety would involve. The questions were "tick a box" choices, included in a yearly omnibus survey sent to 1000 Swedish farmers (68% response rate). The results showed that a majority of the farmers were negative, although almost one third claimed to be neutral to GM crops. The farmers recognized several benefits both in terms of agricultural production and for the environment, but they were also highly concerned about the consumers' unwillingness to buy GM products. Farmers perceived an increase in yield, but nearly as many farmers thought that there would be no benefits with growing an IR GM crop. Several differences in hopes and concerns of the farmers surveyed were revealed when they were divided in positive, neutral and negative groups. Farmers negative to GM were more concerned than positive farmers about IR GM crops being dangerous for humans, livestock or other organisms to consume. GM-positive farmers seemed to be most concerned about potential problems with growing a marketable crop and expensive seeds, but saw a reduced health risk to the grower, due to less use of pesticides, as a possible benefit. The results among the GM-neutral farmers were in most cases closely related to the positive farmers' choices, implying that they believe that there are advantages with growing an IR GM crop, but also fear potential drawbacks. This general uncertainty about GM IR crops may prevent them from accepting the new technology.

  9. Genetic analysis of 430 Chinese Cynodon dactylon accessions using sequence-related amplified polymorphism markers. (United States)

    Huang, Chunqiong; Liu, Guodao; Bai, Changjun; Wang, Wenqiang


    Although Cynodon dactylon (C. dactylon) is widely distributed in China, information on its genetic diversity within the germplasm pool is limited. The objective of this study was to reveal the genetic variation and relationships of 430 C. dactylon accessions collected from 22 Chinese provinces using sequence-related amplified polymorphism (SRAP) markers. Fifteen primer pairs were used to amplify specific C. dactylon genomic sequences. A total of 481 SRAP fragments were generated, with fragment sizes ranging from 260-1800 base pairs (bp). Genetic similarity coefficients (GSC) among the 430 accessions averaged 0.72 and ranged from 0.53-0.96. Cluster analysis conducted by two methods, namely the unweighted pair-group method with arithmetic averages (UPGMA) and principle coordinate analysis (PCoA), separated the accessions into eight distinct groups. Our findings verify that Chinese C. dactylon germplasms have rich genetic diversity, which is an excellent basis for C. dactylon breeding for new cultivars.

  10. New antagonists of LHRH. II. Inhibition and potentiation of LHRH by closely related analogues. (United States)

    Bajusz, S; Csernus, V J; Janaky, T; Bokser, L; Fekete, M; Schally, A V


    Modifications of the previously described LHRH antagonists, [Ac-D-Nal(2)1, D-Phe(4Cl)2, D-Trp3, D-Cit6, D-Ala10]LHRH and the corresponding D-Hci6 analogue, have been made to alter the hydrophobicity of the N-terminal acetyl-tripeptide portion. Substitution of D-Trp3 with the less hydrophobic D-Pal(3) had only marginal effects on the antagonistic activities and receptor binding potencies of the D-Cit/D-Hci6 analogues, but it appeared to further improve the toxicity lowering effect of D-Cit/D-Hci6 substitution. Antagonists containing D-Pal(3)3 and D-Cit/D-Hci6 residues, i.e. [Ac-D-Nal(2)1, D-Phe(4Cl)2, D-Pal(3)3, D-Cit6, D-Ala10]LHRH (SB-75) and [Ac-D-Nal(2)1, D-Phe(4Cl)2, D-Pal(3)3, D-Hci6, D-Ala10]LHRH (SB-88), were completely free of the toxic effects, such as cyanosis and respiratory depression leading to death, which have been observed in rats with the D-Trp3, D-Arg6 antagonist and related antagonists. Replacement of the N-acetyl group with the hydrophilic carbamoyl group caused a slight decrease in antagonistic activities, particularly in vitro. Introduction of urethane type acyl group such as methoxycarbonyl (Moc) or t-butoxycarbonyl (Boc) led to analogues that showed LHRH-potentiating effect. The increase in potency induced by these analogues, e.g. [Moc-D-Nal(2)1, D-Phe(4Cl)2, D-Trp3, D-Cit6, D-Ala10]LHRH and [Boc-D-Phe1, D-Phe(4Cl)2, D-Pal(3)3, D-Cit6, D-Ala10]LHRH, was 170-260% and persisted for more than 2 h when studied in a superfused rat pituitary system.

  11. Heritability of brain activity related to response inhibition: a longitudinal genetic study in adolescent twins (United States)

    Anokhin, Andrey P.; Golosheykin, Simon; Grant, Julia D.; Heath, Andrew C.


    The ability to inhibit prepotent but context- or goal-inappropriate responses is essential for adaptive self-regulation of behavior. Deficits in response inhibition, a key component of impulsivity, have been implicated as a core dysfunction in a range of neuropsychiatric disorders such as ADHD and addictions. Identification of genetically transmitted variation in the neural underpinnings of response inhibition can help to elucidate etiological pathways to these disorders and establish the links between genes, brain, and behavior. However, little is known about genetic influences on the neural mechanisms of response inhibition during adolescence, a developmental period characterized by weak self-regulation of behavior. Here we investigated heritability of ERPs elicited in a Go/No-Go task in a large sample of adolescent twins assessed longitudinally at ages 12, 14, and 16. Genetic analyses showed significant heritability of inhibition-related frontal N2 and P3 components at all three ages, with 50 to 60% of inter-individual variability being attributable to genetic factors. These genetic influences included both common genetic factors active at different ages and novel genetic influences emerging during development. Finally, individual differences in the rate of developmental changes from age 12 to age 16 were significantly influenced by genetic factors. In conclusion, the present study provides the first evidence for genetic influences on neural correlates of response inhibition during adolescence and suggests that ERPs elicited in the Go/No-Go task can serve as intermediate neurophysiological phenotypes (endophenotypes) for the study of disinhibition and impulse control disorders. PMID:28300615

  12. Poecilia picta, a Close Relative to the Guppy, Exhibits Red Male Coloration Polymorphism: A System for Phylogenetic Comparisons.

    Directory of Open Access Journals (Sweden)

    Anna K Lindholm

    Full Text Available Studies on the evolution of female preference and male color polymorphism frequently focus on single species since traits and preferences are thought to co-evolve. The guppy, Poecilia reticulata, has long been a premier model for such studies because female preferences and orange coloration are well known to covary, especially in upstream/downstream pairs of populations. However, focused single species studies lack the explanatory power of the comparative method, which requires detailed knowledge of multiple species with known evolutionary relationships. Here we describe a red color polymorphism in Poecilia picta, a close relative to guppies. We show that this polymorphism is restricted to males and is maintained in natural populations of mainland South America. Using tests of female preference we show female P. picta are not more attracted to red males, despite preferences for red/orange in closely related species, such as P. reticulata and P. parae. Male color patterns in these closely related species are different from P. picta in that they occur in discrete patches and are frequently Y chromosome-linked. P. reticulata have an almost infinite number of male patterns, while P. parae males occur in discrete morphs. We show the red male polymorphism in P. picta extends continuously throughout the body and is not a Y-linked trait despite the theoretical prediction that sexually-selected characters should often be linked to the heterogametic sex chromosome. The presence/absence of red male coloration of P. picta described here makes this an ideal system for phylogenetic comparisons that could reveal the evolutionary forces maintaining mate choice and color polymorphisms in this speciose group.

  13. Genetics

    International Nuclear Information System (INIS)

    Hubitschek, H.E.


    Progress is reported on the following research projects: genetic effects of high LET radiations; genetic regulation, alteration, and repair; chromosome replication and the division cycle of Escherichia coli; effects of radioisotope decay in the DNA of microorganisms; initiation and termination of DNA replication in Bacillus subtilis; mutagenesis in mouse myeloma cells; lethal and mutagenic effects of near-uv radiation; effect of 8-methoxypsoralen on photodynamic lethality and mutagenicity in Escherichia coli; DNA repair of the lethal effects of far-uv; and near uv irradiation of bacterial cells

  14. Mutations and/or close relatives? Six case work examples where 49 autosomal SNPs were used as supplementary markers

    DEFF Research Database (Denmark)

    Børsting, Claus; Morling, Niels


    ID multiplex assay. The six cases included two duos, two trios and two cases, where the alleged father was not available for testing and one or two of his close relatives were tested instead. The SNP investigation was more informative than the STR investigation in all six cases. In two cases, the alleged...... father would have been falsely included based on the STR results, while the SNP results showed that the alleged father was not the true parent. These case work examples underline the importance of performing supplementary investigations in selected cases and demonstrate the usefulness of the SNPfor...

  15. Ademe et Vous. Research Newsletter No. 13, December 2015. Air quality and climate change: two closely-related issues

    International Nuclear Information System (INIS)

    Varet, Anne; Guignard, Stephanie


    This Research letter is the last in a series of three letters dedicated to climate change, produced in the run up to COP21. It covers the research carried out and the results obtained, with the support of ADEME, in terms of air quality and climate change. Content: - Air quality and climate change: two closely-related issues; - Significant Results: Implementing solutions to improve air quality in a wider context of climate change; - Meeting...: Vincent-Henri Peuch and Nathalie Poisson: 'Air and climate quality - developing joint solutions: a necessity'

  16. Posttraumatic Stress Disorder After Bereavement: Early Psychological Sequelae of Losing a Close Relative Due to Terminal Cancer

    DEFF Research Database (Denmark)

    Kristensen, T. E.; Elklit, A.; Karstoft, K. I.


    Very few studies have investigated posttraumatic stress disorder (PTSD) as a consequence of bereavement from terminal illness. Therefore, knowledge on the traumatizing effects of bereavement and risk factors for traumatization from bereavement is rather sparse. This study investigated prevalence...... and predictors of PTSD in a group of people who had recently lost a close relative due to incurable cancer. The participants were 132 persons who were assessed with the Harvard Trauma Questionnaire, the Trauma Symptom Checklist, and the Crisis Support Scale. One month after the loss, 29.5% of the subjects had...

  17. Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies. (United States)

    Broce, Iris; Karch, Celeste M; Wen, Natalie; Fan, Chun C; Wang, Yunpeng; Tan, Chin Hong; Kouri, Naomi; Ross, Owen A; Höglinger, Günter U; Muller, Ulrich; Hardy, John; Momeni, Parastoo; Hess, Christopher P; Dillon, William P; Miller, Zachary A; Bonham, Luke W; Rabinovici, Gil D; Rosen, Howard J; Schellenberg, Gerard D; Franke, Andre; Karlsen, Tom H; Veldink, Jan H; Ferrari, Raffaele; Yokoyama, Jennifer S; Miller, Bruce L; Andreassen, Ole A; Dale, Anders M; Desikan, Rahul S; Sugrue, Leo P


    Converging evidence suggests that immune-mediated dysfunction plays an important role in the pathogenesis of frontotemporal dementia (FTD). Although genetic studies have shown that immune-associated loci are associated with increased FTD risk, a systematic investigation of genetic overlap between immune-mediated diseases and the spectrum of FTD-related disorders has not been performed. Using large genome-wide association studies (GWASs) (total n = 192,886 cases and controls) and recently developed tools to quantify genetic overlap/pleiotropy, we systematically identified single nucleotide polymorphisms (SNPs) jointly associated with FTD-related disorders-namely, FTD, corticobasal degeneration (CBD), progressive supranuclear palsy (PSP), and amyotrophic lateral sclerosis (ALS)-and 1 or more immune-mediated diseases including Crohn disease, ulcerative colitis (UC), rheumatoid arthritis (RA), type 1 diabetes (T1D), celiac disease (CeD), and psoriasis. We found up to 270-fold genetic enrichment between FTD and RA, up to 160-fold genetic enrichment between FTD and UC, up to 180-fold genetic enrichment between FTD and T1D, and up to 175-fold genetic enrichment between FTD and CeD. In contrast, for CBD and PSP, only 1 of the 6 immune-mediated diseases produced genetic enrichment comparable to that seen for FTD, with up to 150-fold genetic enrichment between CBD and CeD and up to 180-fold enrichment between PSP and RA. Further, we found minimal enrichment between ALS and the immune-mediated diseases tested, with the highest levels of enrichment between ALS and RA (up to 20-fold). For FTD, at a conjunction false discovery rate enriched in microglia/macrophages compared to other central nervous system cell types. The main study limitation is that the results represent only clinically diagnosed individuals. Also, given the complex interconnectedness of the HLA region, we were not able to define the specific gene or genes on Chr 6 responsible for our pleiotropic signal. We

  18. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt


    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  19. Disclosing genetic information to at-risk relatives: new Australian privacy principles, but uniformity still elusive. (United States)

    Otlowski, Margaret F A


    There is growing understanding of the need for genetic information to be shared with genetic relatives in some circumstances. Since 2006, s 95AA of the Privacy Act 1988 (Cwlth) has permitted the disclosure of genetic information to genetic relatives without the patient's consent, provided that the health practitioner reasonably believes that disclosure is necessary to lessen or prevent a serious threat to the life, health or safety of the genetic relatives. Enabling guidelines were introduced in 2009. These were limited to the private sector, and excluded doctors working in the public sector at both Commonwealth and state and territory levels. Privacy legislation was amended in March 2014, and new Australian Privacy Principles, which replace the National Privacy Principles and Information Privacy Principles, now cover the collection and use of personal information. The Privacy Act and the Australian Privacy Principles now extend to practitioners employed by the Commonwealth but not to health practitioners working in state and territory public hospitals. In this article, I review these legislative developments and highlight the implications of the lack of uniformity and the consequent need for a collaborative, uniform approach by states and territories.

  20. New chloroplast microsatellite markers suitable for assessing genetic diversity of Lolium perenne and other related grass species. (United States)

    Diekmann, Kerstin; Hodkinson, Trevor R; Barth, Susanne


    their ability to monitor genetic diversity within breeding pools, to trace maternal inheritance and to distinguish closely related species.

  1. Alcohol-related cancers and genetic susceptibility in Europe: the ARCAGE project: study samples and data collection.

    LENUS (Irish Health Repository)

    Lagiou, Pagona


    Cancers of the upper aerodigestive tract (UADT) include those of the oral cavity, pharynx (other than nasopharynx), larynx, and esophagus. Tobacco smoking and consumption of alcoholic beverages are established causes of UADT cancers, whereas reduced intake of vegetables and fruits are likely causes. The role of genetic predisposition and possible interactions of genetic with exogenous factors, however, have not been adequately studied. Moreover, the role of pattern of smoking and drinking, as well as the exact nature of the implicated dietary variables, has not been clarified. To address these issues, the International Agency for Research on Cancer initiated in 2002 the alcohol-related cancers and genetic susceptibility (ARCAGE) in Europe project, with the participation of 15 centers in 11 European countries. Information and biological data from a total of 2304 cases and 2227 controls have been collected and will be used in a series of analyses. A total of 166 single nucleotide polymorphisms of 76 genes are being studied for genetic associations with UADT cancers. We report here the methodology of the ARCAGE project, main demographic and lifestyle characteristics of the cases and controls, as well as the distribution of cases by histology and subsite. About 80% of cases were males and fewer than 20% of all cases occurred before the age of 50 years. Overall, the most common subsite was larynx, followed by oral cavity, oropharynx, esophagus and hypopharynx. Close to 90% of UADT cancers were squamous cell carcinomas. A clear preponderance of smokers and alcohol drinkers among UADT cases compared with controls was observed.

  2. [The genetics of collagen diseases]. (United States)

    Kaplan, J; Maroteaux, P; Frezal, J


    Heritable disorders of collagen include Ehler-Danlos syndromes (11 types are actually known), Larsen syndrome and osteogenesis imperfecta. Their clinical, genetic and biochemical features are reviewed. Marfan syndrome is closely related to heritable disorders of collagen.

  3. Genetics Home Reference: rheumatoid arthritis (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Rheumatoid arthritis Rheumatoid arthritis Printable PDF Open All Close All Enable ... in my area? Other Names for This Condition arthritis, rheumatoid RA Related Information How are genetic conditions and ...

  4. Reconstruction of molecular phylogeny of closely related Amorphophallus species of India using plastid DNA marker and fingerprinting approaches. (United States)

    Gholave, Avinash R; Pawar, Kiran D; Yadav, Shrirang R; Bapat, Vishwas A; Jadhav, Jyoti P


    Plastid DNA markers sequencing and DNA fingerprinting approaches were used and compared for resolving molecular phylogeny of closely related, previously unexplored Amorphophallus species of India. The utility of individual plastid markers namely rbcL , matK , trnH - psbA , trnLC - trnLD , their combined dataset and two fingerprinting techniques viz. RAPD and ISSR were tested for their efficacy to resolves Amorphophallus species into three sections specific clades namely Rhaphiophallus , Conophallus and Amorphophallus . In the present study, sequences of these four plastid DNA regions as well as RAPD and ISSR profiles of 16 Amorphophallus species together with six varieties of two species were generated and analyzed. Maximum likelihood and Bayesian Inference based construction of phylogenetic trees indicated that among the four plastid DNA regions tested individually and their combined dataset, rbcL was found best suited for resolving closely related Amorphophallus species into section specific clades. When analyzed individually, rbcL exhibited better discrimination ability than matK , trnH - psbA , trnLC - trnLD and combination of all four tested plastid markers. Among two fingerprinting techniques used, the resolution of Amorphophallus species using RAPD was better than ISSR and combination of RAPD +ISSR and in congruence with resolution based on rbcL .

  5. Bacillus Strains Most Closely Related to Bacillus nealsonii Are Not Effectively Circumscribed within the Taxonomic Species Definition

    Directory of Open Access Journals (Sweden)

    K. Kealy Peak


    Full Text Available Bacillus strains with >99.7% 16S rRNA gene sequence similarity were characterized with DNA:DNA hybridization, cellular fatty acid (CFA analysis, and testing of 100 phenotypic traits. When paired with the most closely related type strain, percent DNA:DNA similarities (% S for six Bacillus strains were all far below the recommended 70% threshold value for species circumscription with Bacillus nealsonii. An apparent genomic group of four Bacillus strain pairings with 94%–70% S was contradicted by the failure of the strains to cluster in CFA- and phenotype-based dendrograms as well as by their differentiation with 9–13 species level discriminators such as nitrate reduction, temperature range, and acid production from carbohydrates. The novel Bacillus strains were monophyletic and very closely related based on 16S rRNA gene sequence. Coherent genomic groups were not however supported by similarly organized phenotypic clusters. Therefore, the strains were not effectively circumscribed within the taxonomic species definition.

  6. Comparison of closely related, uncultivated Coxiella tick endosymbiont population genomes reveals clues about the mechanisms of symbiosis. (United States)

    Tsementzi, Despina; Castro Gordillo, Juan; Mahagna, Mustafa; Gottlieb, Yuval; Konstantinidis, Konstantinos T


    Understanding the symbiotic interaction between Coxiella-like endosymbionts (CLE) and their tick hosts is challenging due to lack of isolates and difficulties in tick functional assays. Here we sequenced the metagenome of a CLE population from wild Rhipicephalus sanguineus ticks (CRs) and compared it to the previously published genome of its close relative, CLE of R. turanicus (CRt). The tick hosts are closely related sympatric species, and their two endosymbiont genomes are highly similar with only minor differences in gene content. Both genomes encode numerous pseudogenes, consistent with an ongoing genome reduction process. In silico flux balance metabolic analysis (FBA) revealed the excess production of L-proline for both genomes, indicating a possible proline transport from Coxiella to the tick. Additionally, both CR genomes encode multiple copies of the proline/betaine transporter, proP gene. Modelling additional Coxiellaceae members including other tick CLE, did not identify proline as an excreted metabolite. Although both CRs and CRt genomes encode intact B vitamin synthesis pathway genes, which are presumed to underlay the mechanism of CLE-tick symbiosis, the FBA analysis indicated no changes for their products. Therefore, this study provides new testable hypotheses for the symbiosis mechanism and a better understanding of CLE genome evolution and diversity. © 2018 Society for Applied Microbiology and John Wiley & Sons Ltd.

  7. Are the metabolomic responses to folivory of closely related plant species linked to macroevolutionary and plant-folivore coevolutionary processes?

    Energy Technology Data Exchange (ETDEWEB)

    Rivas-Ubach, Albert [Environmental Molecular Sciences Laboratory, Pacific Northwest National Laboratory, Richland Washington 99354 USA; CREAF, Cerdanyola del Vallès 08913 Catalonia Spain; Hódar, José A. [Grupo de Ecología Terrestre, Departamento de Biología Animal y Ecología, Facultad de Ciencias, Universidad de Granada, 18071 Granada Spain; Sardans, Jordi [CREAF, Cerdanyola del Vallès 08913 Catalonia Spain; CSIC, Global Ecology Unit CREAF-CEAB-CSIC-UAB, Cerdanyola del Vallès 08913 Catalonia Spain; Kyle, Jennifer E. [Biological Sciences Division, Pacific Northwest National Laboratory, Richland Washington 99354 USA; Kim, Young-Mo [Biological Sciences Division, Pacific Northwest National Laboratory, Richland Washington 99354 USA; Oravec, Michal [Global Change Research Centre, Academy of Sciences of the Czech Republic, Bĕlidla 4a CZ-603 00 Brno Czech Republic; Urban, Otmar [Global Change Research Centre, Academy of Sciences of the Czech Republic, Bĕlidla 4a CZ-603 00 Brno Czech Republic; Guenther, Alex [Department of Earth System Science, University of California, Irvine California 92697 USA; Peñuelas, Josep [CREAF, Cerdanyola del Vallès 08913 Catalonia Spain; CSIC, Global Ecology Unit CREAF-CEAB-CSIC-UAB, Cerdanyola del Vallès 08913 Catalonia Spain


    The debate whether the coevolution of plants and insects or macroevolutionary processes (phylogeny) is the main driver determining the arsenal of molecular defensive compounds of plants remains unresolved. Attacks by herbivorous insects affect not only the composition of defensive compounds in plants but the entire metabolome (the set of molecular metabolites), including defensive compounds. Metabolomes are the final products of genotypes and are directly affected by macroevolutionary processes, so closely related species should have similar metabolomic compositions and may respond in similar ways to attacks by folivores. We analyzed the elemental compositions and metabolomes of needles from Pinus pinaster, P. nigra and P. sylvestris to determine if these closely related Pinus species with different coevolutionary histories with the caterpillars of the processionary moth respond similarly to attacks by this lepidopteran. All pines had different metabolomes and metabolic responses to herbivorous attack. The metabolomic variation among the pine species and the responses to folivory reflected their macroevolutionary relationships, with P. pinaster having the most divergent metabolome. The concentrations of phenolic metabolites were generally not higher in the attacked trees, which had lower concentrations of terpenes, suggesting that herbivores avoid individuals with high concentrations of terpenes. Our results suggest that macroevolutionary history plays important roles in the metabolomic responses of these pine species to folivory, but plant-insect coevolution probably constrains those responses. Combinations of different evolutionary factors and trade-offs are likely responsible for the different responses of each species to folivory, which is not necessarily exclusively linked to plant-insect coevolution.

  8. C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases

    Directory of Open Access Journals (Sweden)

    Paulo Victor Sgobbi de Souza


    Full Text Available Neurodegenerative diseases represent a heterogeneous group of neurological conditions primarily involving dementia, motor neuron disease and movement disorders. They are mostly related to different pathophysiological processes, notably in family forms in which the clinical and genetic heterogeneity are lush. In the last decade, much knowledge has been acumulated about the genetics of neurodegenerative diseases, making it essential in cases of motor neuron disease and frontotemporal dementia the repeat expansions of C9orf72 gene. This review analyzes the main clinical, radiological and genetic aspects of the phenotypes related to the hexanucleotide repeat expansions (GGGGCC of C9orf72 gene. Future studies will aim to further characterize the neuropsychological, imaging and pathological aspects of the extra-motor features of motor neuron disease, and will help to provide a new classification system that is both clinically and biologically relevant.

  9. Genetic determinants of serum vitamin B12 and their relation to body mass index

    DEFF Research Database (Denmark)

    Allin, Kristine H.; Friedrich, Nele; Pietzner, Maik


    for associations between (1) serum vitamin B12 levels and body mass index (BMI), (2) genetic variants and serum vitamin B12 levels, and (3) genetic variants and BMI. The effect of a genetically determined decrease in serum vitamin B12 on BMI was estimated by instrumental variable regression. Decreased serum......Lower serum vitamin B12 levels have been related to adverse metabolic health profiles, including adiposity. We used a Mendelian randomization design to test whether this relation might be causal. We included two Danish population-based studies (ntotal = 9311). Linear regression was used to test...... vitamin B12 associated with increased BMI (P vitamin B12 associated variants associated strongly with serum vitamin B12 (P vitamin B12...

  10. Relationship between HTRA1 polymorphism and genetic susceptibility of wet age-related macular degeneration in Han population

    Directory of Open Access Journals (Sweden)

    Nan Yang


    Full Text Available AIM: To investigate the relationship between high temperature essential factor A-1(HTRA1polymorphism and genetic susceptibility of wet age-related macular degeneration(AMDin Han population. METHODS: Totally 201 patients of wet AMD in Han population were selected from May 2014 to January 2017 in our hospital as disease group, and 201 healthy persons of Han were selected as health group. Blood samples of peripheral vein were collected and genomic DNA was extracted. HTRA1 polymorphism loci were detected, and the rs11200638 and rs2248799 loci of HTRA1 gene were detected by Sequenom mass spectrometry platform. Then the relationship between HTRA1 polymorphism and genetic susceptibility of wet AMD were analyzed. RESULTS: The grade distributions of the genotype of the rs11200638 and rs2248799 loci in the two groups subjects had significant differences(PPPOR values of rs11200638 genotype AA and AG were respectively 5.36 and 3.45, which were the risk factors of wet AMD(POR values of rs2248799 genotype TT and TC were respectively 2.36 and 1.98, which were the risk factors of wet AMD(PCONCLUSION: The rs11200638 and rs2248799 polymorphisms of HTRA1 gene are associated with the incidence of wet AMD, and the genotype AA and TT are closely related to the risk of wet AMD in Han population, of which the higher frequencies can increase the risk of wet AMD.

  11. Four Closely Related HIV-1 CRF01_AE/CRF07_BC Recombinant Forms Identified in East China. (United States)

    Li, Fan; Li, Yuxueyun; Feng, Yi; Hu, Jing; Ruan, Yuhua; Xing, Hui; Shao, Yiming


    Five near full-length genomes of novel second-generation HIV-1 recombinant virus (JS150021, JS150029, JS150129, JS150132, and AH150183) were identified from five HIV-positive people in Jiangsu and Anhui province, east China. Phylogenic analyses showed that these five sequences are all composed of two well-established circulating recombinant forms (CRFs) CRF07_BC and CRF01_AE, grouped into four new discovered recombinant forms, which show several very similar but not identical recombinant breakpoints. The four recombinant forms are also identified to be a sort of family or related viruses, seems to be the results of different recombination events. The emergence of a serious new closely related CRF07_BC/CRF01_AE recombinant strain indicates the increasing complexity of sexual transmission of the HIV-1 epidemic in China.

  12. Initial assessment of a model relating intratumoral genetic heterogeneity to radiological morphology (United States)

    Noterdaeme, O; Kelly, M; Friend, P; Soonowalla, Z; Steers, G; Brady, M


    Tumour heterogeneity has major implications for tumour development and response to therapy. Tumour heterogeneity results from mutations in the genes responsible for mismatch repair or maintenance of chromosomal stability. Cells with different genetic properties may grow at different rates and exhibit different resistance to therapeutic interventions. To date, there exists no approach to non-invasively assess tumour heterogeneity. Here we present a biologically inspired model of tumour growth, which relates intratumoral genetic heterogeneity to gross morphology visible on radiological images. The model represents the development of a tumour as a set of expanding spheres, each sphere representing a distinct clonal centre, with the sprouting of new spheres corresponding to new clonal centres. Each clonal centre may possess different characteristics relating to genetic composition, growth rate and response to treatment. We present a clinical example for which the model accurately tracks tumour growth and shows the correspondence to genetic variation (as determined by array comparative genomic hybridisation). One clinical implication of our work is that the assessment of heterogeneous tumours using Response Evaluation Criteria In Solid Tumours (RECIST) or volume measurements may not accurately reflect tumour growth, stability or the response to treatment. We believe that this is the first model linking the macro-scale appearance of tumours to their genetic composition. We anticipate that our model will provide a more informative way to assess the response of heterogeneous tumours to treatment, which is of increasing importance with the development of novel targeted anti-cancer treatments. PMID:19690073

  13. Awareness and uptake of direct-to-consumer genetic testing among cancer cases, their relatives, and controls: the Northwest Cancer Genetics Network. (United States)

    Hall, Taryn O; Renz, Anne D; Snapinn, Katherine W; Bowen, Deborah J; Edwards, Karen L


    To determine if awareness of, interest in, and use of direct-to-consumer (DTC) genetic testing is greater in a sample of high-risk individuals (cancer cases and their relatives), compared to controls. Participants were recruited from the Northwest Cancer Genetics Network. A follow-up survey was mailed to participants to assess DTC genetic testing awareness, interest, and use. One thousand two hundred sixty-seven participants responded to the survey. Forty-nine percent of respondents were aware of DTC genetic testing. Of those aware, 19% indicated interest in obtaining and testing. Additional information supplied by respondents who reported use of DTC genetic tests indicated that 55% of these respondents likely engaged in clinical genetic testing, rather than DTC genetic testing. Awareness of DTC genetic testing was greater in our sample of high-risk individuals than in controls and population-based studies. Although interest in and use of these tests among cases in our sample were equivalent to other population-based studies, interest in testing was higher among relatives and people who self-referred for a registry focused on cancer than among cases and controls. Additionally, our results suggest that there may be some confusion about what constitutes DTC genetic testing.

  14. Genetic evidence for causal relationships between maternal obesity-related traits and birth weight

    NARCIS (Netherlands)

    A.W.R. Tyrrell; R.C. Richmond (Rebecca C.); T.M. Palmer (Tom); B. Feenstra (Bjarke); J. Rangarajan (Janani); S. Metrustry (Sarah); A. Cavadino (Alana); L. Paternoster (Lavinia); L.L. Armstrong (Loren L.); N.M.G. De Silva (N. Maneka G.); A.R. Wood (Andrew); M. Horikoshi (Momoko); F. Geller (Frank); R. Myhre (Ronny); J.P. Bradfield (Jonathan); E. Kreiner-Møller (Eskil); I. Huikari (Ille); J.N. Painter (Jodie N.); J.J. Hottenga (Jouke Jan); C. Allard (Catherine); D. Berry (Diane); L. Bouchard (Luigi); S. Das (Shikta); D.M. Evans (David); H. Hakonarson (Hakon); M.G. Hayes (M. Geoffrey); J. Heikkinen (Jani); A. Hofman (Albert); B.A. Knight (Bridget); P.A. Lind (Penelope); M.I. McCarthy (Mark); G. Mcmahon (George); S.E. Medland (Sarah Elizabeth); M. Melbye (Mads); A.P. Morris (Andrew); M. Nodzenski (Michael); C. Reichetzeder (Christoph); S.M. Ring (Susan); S. Sebert (Sylvain); V. Sengpiel (Verena); T.I.A. Sørensen (Thorkild); G.A.H.M. Willemsen (Gonneke); E.J.C. de Geus (Eco); N.G. Martin (Nicholas); T.D. Spector (Timothy); C. Power (Christine); M.-R. Jarvelin (Marjo-Riitta); H. Bisgaard (Hans); S.F.A. Grant (Struan); C. Nohr (Christian); V.W.V. Jaddoe (Vincent); B. Jacobsson (Bo); J.C. Murray (Jeffrey C.); B. Hocher (Berthold); A.T. Hattersley (Andrew); D.M. Scholtens (Denise M.); G.D. Smith; M.-F. Hivert (Marie-France); J.F. Felix (Janine); E. Hypponen (Elina); W.L. Lowe Jr. (William); T.M. Frayling (Timothy); D.A. Lawlor (Debbie); R.M. Freathy (Rachel)


    textabstractIMPORTANCE Neonates born to overweight or obese women are larger and at higher risk of birth complications. Many maternal obesity-related traits are observationally associated with birth weight, but the causal nature of these associations is uncertain. OBJECTIVE To test for genetic


    NARCIS (Netherlands)

    Roberts, Susanna; Keers, Robert; Lester, Kathryn J.; Coleman, Jonathan R. I.; Breen, Gerome; Arendt, Kristian; Blatter-Meunier, Judith; Cooper, Peter; Creswell, Cathy; Fjermestad, Krister; Havik, Odd E.; Herren, Chantal; Hogendoorn, Sanne M.; Hudson, Jennifer L.; Krause, Karen; Lyneham, Heidi J.; Morris, Talia; Nauta, Maaike; Rapee, Ronald M.; Rey, Yasmin; Schneider, Silvia; Schneider, Sophie C.; Silverman, Wendy K.; Thastum, Mikael; Thirlwall, Kerstin; Waite, Polly; Eley, Thalia C.; Wong, Chloe C. Y.


    Hypothalamic-pituitary-adrenal (HPA) axis functioning has been implicated in the development of stress-related psychiatric diagnoses and response to adverse life experiences. This study aimed to investigate the association between genetic and epigenetics in HPA axis and response to cognitive

  16. Genetic structure of Polytrichum formosum in relation to the breeding system as revealed by microsatellites

    NARCIS (Netherlands)

    Van der Velde, M; Van de Zande, L; Bijlsma, R

    Microsatellite variation was determined for three Danish and three Dutch populations of the haploid moss species Polytrichum formosum to gain insight into the relative importance of sexual vs. asexual reproduction for the amount and structure of genetic variation. In general, low levels of

  17. Relating adaptive genetic traits to climate for Sandberg bluegrass from the intermountain western United States (United States)

    Richard C. Johnson; Matthew E. Horning; Erin Espeland; Ken Vance-Borland


    Genetic variation for potentially adaptive traits of the key restoration species Sandberg bluegrass (Poa secunda J. Presl) was assessed over the intermountain western United States in relation to source population climate. Common gardens were established at two intermountain west sites with progeny from two maternal parents from each of 130 wild populations. Data were...

  18. Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight. (United States)

    Tyrrell, Jessica; Richmond, Rebecca C; Palmer, Tom M; Feenstra, Bjarke; Rangarajan, Janani; Metrustry, Sarah; Cavadino, Alana; Paternoster, Lavinia; Armstrong, Loren L; De Silva, N Maneka G; Wood, Andrew R; Horikoshi, Momoko; Geller, Frank; Myhre, Ronny; Bradfield, Jonathan P; Kreiner-Møller, Eskil; Huikari, Ville; Painter, Jodie N; Hottenga, Jouke-Jan; Allard, Catherine; Berry, Diane J; Bouchard, Luigi; Das, Shikta; Evans, David M; Hakonarson, Hakon; Hayes, M Geoffrey; Heikkinen, Jani; Hofman, Albert; Knight, Bridget; Lind, Penelope A; McCarthy, Mark I; McMahon, George; Medland, Sarah E; Melbye, Mads; Morris, Andrew P; Nodzenski, Michael; Reichetzeder, Christoph; Ring, Susan M; Sebert, Sylvain; Sengpiel, Verena; Sørensen, Thorkild I A; Willemsen, Gonneke; de Geus, Eco J C; Martin, Nicholas G; Spector, Tim D; Power, Christine; Järvelin, Marjo-Riitta; Bisgaard, Hans; Grant, Struan F A; Nohr, Ellen A; Jaddoe, Vincent W; Jacobsson, Bo; Murray, Jeffrey C; Hocher, Berthold; Hattersley, Andrew T; Scholtens, Denise M; Davey Smith, George; Hivert, Marie-France; Felix, Janine F; Hyppönen, Elina; Lowe, William L; Frayling, Timothy M; Lawlor, Debbie A; Freathy, Rachel M


    Neonates born to overweight or obese women are larger and at higher risk of birth complications. Many maternal obesity-related traits are observationally associated with birth weight, but the causal nature of these associations is uncertain. To test for genetic evidence of causal associations of maternal body mass index (BMI) and related traits with birth weight. Mendelian randomization to test whether maternal BMI and obesity-related traits are potentially causally related to offspring birth weight. Data from 30,487 women in 18 studies were analyzed. Participants were of European ancestry from population- or community-based studies in Europe, North America, or Australia and were part of the Early Growth Genetics Consortium. Live, term, singleton offspring born between 1929 and 2013 were included. Genetic scores for BMI, fasting glucose level, type 2 diabetes, systolic blood pressure (SBP), triglyceride level, high-density lipoprotein cholesterol (HDL-C) level, vitamin D status, and adiponectin level. Offspring birth weight from 18 studies. Among the 30,487 newborns the mean birth weight in the various cohorts ranged from 3325 g to 3679 g. The maternal genetic score for BMI was associated with a 2-g (95% CI, 0 to 3 g) higher offspring birth weight per maternal BMI-raising allele (P = .008). The maternal genetic scores for fasting glucose and SBP were also associated with birth weight with effect sizes of 8 g (95% CI, 6 to 10 g) per glucose-raising allele (P = 7 × 10(-14)) and -4 g (95% CI, -6 to -2 g) per SBP-raising allele (P = 1×10(-5)), respectively. A 1-SD ( ≈ 4 points) genetically higher maternal BMI was associated with a 55-g higher offspring birth weight (95% CI, 17 to 93 g). A 1-SD ( ≈ 7.2 mg/dL) genetically higher maternal fasting glucose concentration was associated with 114-g higher offspring birth weight (95% CI, 80 to 147 g). However, a 1-SD ( ≈ 10 mm Hg) genetically higher maternal SBP was associated with a 208-g

  19. Internet addiction and its facets: The role of genetics and the relation to self-directedness. (United States)

    Hahn, Elisabeth; Reuter, Martin; Spinath, Frank M; Montag, Christian


    A growing body of research focuses on problematic behavior patterns related to the use of the Internet to identify contextual as well as individual risk factors of this new phenomenon called Internet addiction (IA). IA can be described as a multidimensional syndrome comprising aspects such as craving, development of tolerance, loss of control and negative consequences. Given that previous research on other addictive behaviors showed substantial heritability, it can be expected that the vulnerability to IA may also be due to a person's genetic predisposition. However, it is questionable whether distinct components of IA have different etiologies. Using data from a sample of adult monozygotic and dizygotic twins and non-twin siblings (N=784 individuals, N=355 complete pairs, M=30.30years), we investigated the magnitude of genetic and environmental influences on generalized IA as well as on specific facets such as excessive use, self-regulation, preference for online social interaction or negative consequences. To explain the heritability in IA, we further examined the relation to Self-Directedness as potential mediating source. Results showed that relative contributions of genetic influences vary considerable for different components of IA. For generalized IA factors, individual differences could be explained by shared and non-shared environmental influences while genetic influences did not play a role. For specific facets of IA and private Internet use in hours per week, heritability estimates ranged between 21% and 44%. Bivariate analysis indicated that Self-Directedness accounted for 20% to 65% of the genetic variance in specific IA facets through overlapping genetic pathways. Implications for future research are discussed. Copyright © 2016 Elsevier Ltd. All rights reserved.

  20. Like will to like: abundances of closely related species can predict susceptibility to intestinal colonization by pathogenic and commensal bacteria. (United States)

    Stecher, Bärbel; Chaffron, Samuel; Käppeli, Rina; Hapfelmeier, Siegfried; Freedrich, Susanne; Weber, Thomas C; Kirundi, Jorum; Suar, Mrutyunjay; McCoy, Kathy D; von Mering, Christian; Macpherson, Andrew J; Hardt, Wolf-Dietrich


    The intestinal ecosystem is formed by a complex, yet highly characteristic microbial community. The parameters defining whether this community permits invasion of a new bacterial species are unclear. In particular, inhibition of enteropathogen infection by the gut microbiota ( = colonization resistance) is poorly understood. To analyze the mechanisms of microbiota-mediated protection from Salmonella enterica induced enterocolitis, we used a mouse infection model and large scale high-throughput pyrosequencing. In contrast to conventional mice (CON), mice with a gut microbiota of low complexity (LCM) were highly susceptible to S. enterica induced colonization and enterocolitis. Colonization resistance was partially restored in LCM-animals by co-housing with conventional mice for 21 days (LCM(con21)). 16S rRNA sequence analysis comparing LCM, LCM(con21) and CON gut microbiota revealed that gut microbiota complexity increased upon conventionalization and correlated with increased resistance to S. enterica infection. Comparative microbiota analysis of mice with varying degrees of colonization resistance allowed us to identify intestinal ecosystem characteristics associated with susceptibility to S. enterica infection. Moreover, this system enabled us to gain further insights into the general principles of gut ecosystem invasion by non-pathogenic, commensal bacteria. Mice harboring high commensal E. coli densities were more susceptible to S. enterica induced gut inflammation. Similarly, mice with high titers of Lactobacilli were more efficiently colonized by a commensal Lactobacillus reuteri(RR) strain after oral inoculation. Upon examination of 16S rRNA sequence data from 9 CON mice we found that closely related phylotypes generally display significantly correlated abundances (co-occurrence), more so than distantly related phylotypes. Thus, in essence, the presence of closely related species can increase the chance of invasion of newly incoming species into the gut

  1. Phytophthora megakarya and Phytophthora palmivora, Closely Related Causal Agents of Cacao Black Pod Rot, Underwent Increases in Genome Sizes and Gene Numbers by Different Mechanisms (United States)

    Ali, Shahin S.; Shao, Jonathan; Lary, David J.; Kronmiller, Brent A.; Shen, Danyu; Strem, Mary D.; Amoako-Attah, Ishmael; Akrofi, Andrew Yaw; Begoude, B.A. Didier; ten Hoopen, G. Martijn; Coulibaly, Klotioloma; Kebe, Boubacar Ismaël; Melnick, Rachel L.; Guiltinan, Mark J.; Tyler, Brett M.; Meinhardt, Lyndel W.


    Phytophthora megakarya (Pmeg) and Phytophthora palmivora (Ppal) are closely related species causing cacao black pod rot. Although Ppal is a cosmopolitan pathogen, cacao is the only known host of economic importance for Pmeg. Pmeg is more virulent on cacao than Ppal. We sequenced and compared the Pmeg and Ppal genomes and identified virulence-related putative gene models (PGeneM) that may be responsible for their differences in host specificities and virulence. Pmeg and Ppal have estimated genome sizes of 126.88 and 151.23 Mb and PGeneM numbers of 42,036 and 44,327, respectively. The evolutionary histories of Pmeg and Ppal appear quite different. Postspeciation, Ppal underwent whole-genome duplication whereas Pmeg has undergone selective increases in PGeneM numbers, likely through accelerated transposable element-driven duplications. Many PGeneMs in both species failed to match transcripts and may represent pseudogenes or cryptic genetic reservoirs. Pmeg appears to have amplified specific gene families, some of which are virulence-related. Analysis of mycelium, zoospore, and in planta transcriptome expression profiles using neural network self-organizing map analysis generated 24 multivariate and nonlinear self-organizing map classes. Many members of the RxLR, necrosis-inducing phytophthora protein, and pectinase genes families were specifically induced in planta. Pmeg displays a diverse virulence-related gene complement similar in size to and potentially of greater diversity than Ppal but it remains likely that the specific functions of the genes determine each species’ unique characteristics as pathogens. PMID:28186564

  2. Specificity of herbivore-induced hormonal signaling and defensive traits in five closely related milkweeds (Asclepias spp.). (United States)

    Agrawal, Anurag A; Hastings, Amy P; Patrick, Eamonn T; Knight, Anna C


    Despite the recognition that phytohormonal signaling mediates induced responses to herbivory, we still have little understanding of how such signaling varies among closely related species and may generate herbivore-specific induced responses. We studied closely related milkweeds (Asclepias) to link: 1) plant damage by two specialist chewing herbivores (milkweed leaf beetles Labidomera clivicolis and monarch caterpillars Danaus plexippus); 2) production of the phytohormones jasmonic acid (JA), salicylic acid (SA), and abscisic acid (ABA); 3) induction of defensive cardenolides and latex; and 4) impacts on Danaus caterpillars. We first show that A. syriaca exhibits induced resistance following monarch herbivory (i.e., reduced monarch growth on previously damaged plants), while the defensively dissimilar A. tuberosa does not. We next worked with a broader group of five Asclepias, including these two species, that are highly divergent in defensive traits yet from the same clade. Three of the five species showed herbivore-induced changes in cardenolides, while induced latex was found in four species. Among the phytohormones, JA and ABA showed specific responses (although they generally increased) to insect species and among the plant species. In contrast, SA responses were consistent among plant and herbivore species, showing a decline following herbivore attack. Jasmonic acid showed a positive quantitative relationship only with latex, and this was strongest in plants damaged by D. plexippus. Although phytohormones showed qualitative tradeoffs (i.e., treatments that enhanced JA reduced SA), the few significant individual plant-level correlations among hormones were positive, and these were strongest between JA and ABA in monarch damaged plants. We conclude that: 1) latex exudation is positively associated with endogenous JA levels, even among low-latex species; 2) correlations among milkweed hormones are generally positive, although herbivore damage induces a

  3. A novel PCR-RFLP assay for molecular characterization of Echinococcus granulosus sensu lato and closely related species in developing countries. (United States)

    Chaâbane-Banaoues, Raja; Oudni-M'rad, Myriam; M'rad, Selim; Amani, Hizem; Mezhoud, Habib; Babba, Hamouda


    Cystic echinococcosis, due to Echinococcus granulosus sensu lato (s. l.), currently affects three million people, especially in low-income countries and results in high livestock production loss. DNA-based methods demonstrated genetic variability of E. granulosus s. l., and five species were recognized to belong to the complex, including E. granulosus sensu stricto (s.s) (genotypes G1-G3), Echinococcus equinus (genotype G4), Echinococcus ortleppi (genotype G5), Echinococcus canadensis (genotypes G6-G10), and the lion strain Echinococcus felidis. The characterization of Echinococcus species responsible for human and animal echinococcosis is crucial to adapt the preventive measures against this parasitic disease. The sequencing approach is the gold standard for genotyping assays. Unfortunately, developing countries do not often have access to these techniques. Based on in silico RFLP tools, we described an accurate PCR-RFLP method for Echinococcus spp. characterization. The double digestion with the HaeIII and HinfI restriction enzymes of the PCR product from nad1 gene (1071 bp) led to a clear discrimination between E. granulosus s. l. and most closely related species (Echinococcus shiquicus and Echinococcus multilocularis).Molecular procedures and phylogenetic analysis confirmed the efficiency and the reproducibility of this simple and fast PCR-RFLP method. This technique is proved useful for fresh/unfixed and FF-PET tissues and enables large-scale molecular epidemiological screening in developing countries.

  4. The evolution and diversity of a low complexity vaccine candidate, merozoite surface protein 9 (MSP-9), in Plasmodium vivax and closely related species. (United States)

    Chenet, Stella M; Pacheco, M Andreína; Bacon, David J; Collins, William E; Barnwell, John W; Escalante, Ananias A


    The merozoite surface protein-9 (MSP-9) has been considered a target for an anti-malarial vaccine since it is one of many proteins involved in the erythrocyte invasion, a critical step in the parasite life cycle. Orthologs encoding this antigen have been found in all known species of Plasmodium parasitic to primates. In order to characterize and investigate the extent and maintenance of MSP-9 genetic diversity, we analyzed DNA sequences of the following malaria parasite species: Plasmodium falciparum, Plasmodium reichenowi, Plasmodium chabaudi, Plasmodium yoelii, Plasmodium berghei, Plasmodium coatneyi, Plasmodium gonderi, Plasmodium knowlesi, Plasmodium inui, Plasmodium simiovale, Plasmodium fieldi, Plasmodium cynomolgi and Plasmodium vivax and evaluated the signature of natural selection in all MSP-9 orthologs. Our findings suggest that the gene encoding MSP-9 is under purifying selection in P. vivax and closely related species. We further explored how selection affected different regions of MSP-9 by comparing the polymorphisms in P. vivax and P. falciparum, and found contrasting patterns between these two species that suggest differences in functional constraints. This observation implies that the MSP-9 orthologs in human parasites may interact differently with the host immune response. Thus, studies carried out in one species cannot be directly translated into the other. Copyright © 2013 Elsevier B.V. All rights reserved.

  5. Clinical and genetic analysis of Indian patients with NDP-related retinopathies. (United States)

    Sudha, Dhandayuthapani; Ganapathy, Aparna; Mohan, Puja; Mannan, Ashraf U; Krishna, Shuba; Neriyanuri, Srividya; Swaminathan, Meenakshi; Rishi, Pukhraj; Chidambaram, Subbulakshmi; Arunachalam, Jayamuruga Pandian


    NDP-related retinopathies are a group of X-linked disorders characterized by degenerative and proliferative changes of the neuroretina, occasionally accompanied with varying degrees of mental retardation and sensorineural hearing loss. NDP is the predominant gene associated with NDP-related retinopathies. The purpose of this study was to report the clinical and genetic findings in three unrelated patients diagnosed with NDP-related retinopathies. The patients underwent complete ophthalmic examination followed by genetic analyses. NDP gene was screened by direct sequencing approach. Targeted resequencing of several other ocular genes was carried out in patient samples that either indicated NDP gene deletion or tested negative for NDP mutation. Gene quantitation analysis was performed using real-time PCR. The whole NDP gene was deleted in patient I, while a missense NDP mutation, c.205T>C, was identified in patient II, and both had classical Norrie disease ocular phenotype (with no other systemic defects). Patient III who was diagnosed with familial exudative vitreoretinopathy did not show any mutation in the known candidate genes as well as in other ocular genes tested. The patient with whole NDP gene deletion did not exhibit any apparent extraocular defects (like mental retardation or sensorineural hearing loss) during his first decade of life, and this is considered to be a notable finding. Our study also provides evidence emphasizing the need for genetic testing which could eliminate ambiguities in clinical diagnosis and detect carrier status, thereby aiding the patient and family members during genetic counseling.

  6. Age-related decline in brain resources modulates genetic effects on cognitive functioning

    Directory of Open Access Journals (Sweden)

    Ulman Lindenberger


    Full Text Available Individual differences in cognitive performance increase from early to late adulthood, likely reflecting influences of a multitude of factors. We hypothesize that losses in neurochemical and anatomical brain resources in normal aging modulate the effects of common genetic variations on cognitive functioning. Our hypothesis is based on the assumption that the function relating brain resources to cognition is nonlinear, so that genetic differences exert increasingly large effects on cognition as resources recede from high to medium levels in the course of aging.Direct empirical support for this hypothesis comes from a study by Nagel et al. (2008, who reported that the effects of the Catechol-O-Methyltransferase (COMT gene on cognitive performance are magnified in old age and interacted with the Brain-Derived Neurotrophic Factor (BDNF gene. We conclude that common genetic polymorphisms contribute to the increasing heterogeneity of cognitive functioning in old age. Extensions of the hypothesis to other polymorphisms are discussed.

  7. Introgression from cultivated rice alters genetic structures of wild relative populations: implications for in situ conservation (United States)

    Jin, Xin; Chen, Yu; Liu, Ping; Li, Chen; Cai, Xingxing; Rong, Jun


    Abstract Maintaining genetic integrity is essential for in situ and ex situ conservation of crop wild relative (CWR) species. However, introgression of crop alleles into CWR species/populations may change their genetic structure and diversity, resulting in more invasive weeds or, in contrast, the extinction of endangered populations. To determine crop-wild introgression and its consequences, we examined the genetic structure and diversity of six wild rice (Oryza rufipogon) populations under in situ conservation in China. Thirty-four simple sequence repeat (SSR) and 34 insertion/deletion markers were used to genotype the wild rice populations and two sets of rice cultivars (O. sativa), corresponding to the two types of molecular markers. Shared alleles and STRUCTURE analyses suggested a variable level of crop-wild introgression and admixture. Principal coordinates and cluster analyses indicated differentiation of wild rice populations, which was associated with the spatial distances to cultivated rice fields. The level of overall genetic diversity was comparable between wild rice populations and rice cultivars, but a great number of wild-specific alleles was detected in the wild populations. We conclude based on the results that crop-wild introgression can considerably alter the pattern of genetic structure and relationships of CWR populations. Appropriate measures should be taken for effective in situ conservation of CWR species under the scenario of crop-wild introgression. PMID:29308123

  8. Estimation of genetic parameters related to eggshell strength using random regression models. (United States)

    Guo, J; Ma, M; Qu, L; Shen, M; Dou, T; Wang, K


    This study examined the changes in eggshell strength and the genetic parameters related to this trait throughout a hen's laying life using random regression. The data were collected from a crossbred population between 2011 and 2014, where the eggshell strength was determined repeatedly for 2260 hens. Using random regression models (RRMs), several Legendre polynomials were employed to estimate the fixed, direct genetic and permanent environment effects. The residual effects were treated as independently distributed with heterogeneous variance for each test week. The direct genetic variance was included with second-order Legendre polynomials and the permanent environment with third-order Legendre polynomials. The heritability of eggshell strength ranged from 0.26 to 0.43, the repeatability ranged between 0.47 and 0.69, and the estimated genetic correlations between test weeks was high at > 0.67. The first eigenvalue of the genetic covariance matrix accounted for about 97% of the sum of all the eigenvalues. The flexibility and statistical power of RRM suggest that this model could be an effective method to improve eggshell quality and to reduce losses due to cracked eggs in a breeding plan.

  9. Authentication of Closely Related Fish and Derived Fish Products Using Tandem Mass Spectrometry and Spectral Library Matching. (United States)

    Nessen, Merel A; van der Zwaan, Dennis J; Grevers, Sander; Dalebout, Hans; Staats, Martijn; Kok, Esther; Palmblad, Magnus


    Proteomics methodology has seen increased application in food authentication, including tandem mass spectrometry of targeted species-specific peptides in raw, processed, or mixed food products. We have previously described an alternative principle that uses untargeted data acquisition and spectral library matching, essentially spectral counting, to compare and identify samples without the need for genomic sequence information in food species populations. Here, we present an interlaboratory comparison demonstrating how a method based on this principle performs in a realistic context. We also increasingly challenge the method by using data from different types of mass spectrometers, by trying to distinguish closely related and commercially important flatfish, and by analyzing heavily contaminated samples. The method was found to be robust in different laboratories, and 94-97% of the analyzed samples were correctly identified, including all processed and contaminated samples.

  10. Different strategies of osmoadaptation in the closely related marine myxobacteria Enhygromyxa salina SWB007 and Plesiocystis pacifica SIR-1. (United States)

    Amiri Moghaddam, Jamshid; Boehringer, Nils; Burdziak, Amal; Kunte, Hans-Jörg; Galinski, Erwin A; Schäberle, Till F


    Only a few myxobacteria are known to date which are classified as marine due to their salt-dependency. In this study, the salt tolerance mechanism of these bacteria was investigated. Therefore, a growth medium was designed, in which the mutated Escherichia coli strain BKA13 served as sole food source for the predatory, heterotrophic myxobacteria. This enabled measurement of the osmolytes without any background and revealed that the closely related strains Enhygromyxa salina SWB007 and Plesiocystis pacifica SIR-1 developed different strategies to handle salt stress. P. pacifica SIR-1, which was grown between 1-4 % NaCl, relies solely on the accumulation of amino acids, while E. salina SWB007, which was grown between 0.5-3 % NaCl, employs, beside betaine, hydroxyectoine as the major compatible solute. In accordance with this analysis, only in the latter strain a gene locus was identified which codes for genes corresponding to the biosynthesis of betaine, ectoine, and hydroxyectoine.

  11. Leave for illness/accident or in the event of illness of a close relative - New medical certificate templates

    CERN Multimedia

    HR department


    Medical certificate templates are now available in the Admin e-guide (follow the “Forms and templates” link):    Medical certificate for illness/accident Medical certificate for a medical examination or treatment Medical certificate in the event of illness of a close relative These templates are provided for the convenience of members of the personnel and their use is recommended but not compulsory. Other forms of medical certificates issued by a medical doctor may also be submitted, provided they contain the same items of information as those given in the templates. More information on the applicable rules and on the way leave is managed at CERN can be found in the Admin e-guide web pages. Human Resources department

  12. Report on {open_quotes}inspection of human subject research in intelligence and intelligence-related projects{close_quotes}

    Energy Technology Data Exchange (ETDEWEB)



    Executive Order 12333, {open_quotes}United States Intelligence Activities,{close_quotes} (1) designates the Department`s intelligence element as a member of the Intelligence Community, and (2) states that no agency within the Intelligence community shall sponsor, contract for or conduct research on human subjects except in accordance with guidelines issued by the Department of Health and Human Services. The Federal policy for the Protection of Human Subjects, which was based on Department of Health and Human Services regulations, was promulgated in Title 10 Code of Federal Regulations Part 745 by the Department of Energy. The purpose of this inspection was to review the internal control procedures used by the Office of Nonproliferation and National Security to manage selected intelligence and intelligence-related projects that involve human subject research.

  13. Yeasts from Scarlet ibises (Eudocimus ruber): A focus on monitoring the antifungal susceptibility of Candida famata and closely related species. (United States)

    Brilhante, Raimunda Sâmia Nogueira; Silva, Aline Lobão da; Monteiro, Frederico Ozanan Barros; Guedes, Glaucia Morgana de Melo; Sales, Jamille Alencar; Oliveira, Jonathas Sales de; Maia Junior, José Erisvaldo; Miranda, Stefânia Araújo; Sidrim, José Júlio Costa; Alencar, Lucas Pereira de; Castelo-Branco, Débora Souza Collares Maia; Cordeiro, Rossana de Aguiar; Pereira Neto, Waldemiro de Aquino; Rocha, Marcos Fábio Gadelha


    This study aimed to identify yeasts from the gastrointestinal tract of scarlet ibises (Eudocimus ruber) and from plant material collected from the environment where they live. Then, the isolates phenotypically identified as Candida famata were submitted to molecular identification of their closely related species and evaluated for their antifungal susceptibility and possible resistance mechanisms to antifungal drugs. Cloacal swabs from 20 scarlet ibises kept in captivity at Mangal das Garças Park (Brazil), pooled stool samples (n = 20) and samples of trunks and hollow of trees (n = 20) obtained from their enclosures were collected. The samples were seeded on Sabouraud agar supplemented with chloramphenicol. The 48 recovered isolates were phenotypically identified as 15 Candida famata, 13 Candida catenulata, 2 Candida intermedia, 1 Candida lusitaniae, 2 Candida guilliermondii, 1 Candida kefyr, 1 Candida amapae, 1 Candida krusei, 8 Trichosporon spp., and 4 Rhodotorula spp. The C. famata isolates were further identified as 3 C. famata, 8 Debaryomyces nepalensis, and 4 C. palmioleophila. All C. famata and C. palmioleophila were susceptible to caspofungin and itraconazole, while one D. nepalensis was resistant to fluconazole and voriconazole. This same isolate and another D. nepalensis had lower amphotericin B susceptibility. The azole resistant strain had an increased efflux of rhodamine 6G and an alteration in the membrane sterol content, demonstrating multifactorial resistance mechanism. Finally, this research shows that scarlet ibises and their environment harbor C. famata and closely related species, including antifungal resistant isolates, emphasizing the need of monitoring the antifungal susceptibility of these yeast species. © The Author 2017. Published by Oxford University Press on behalf of The International Society for Human and Animal Mycology. All rights reserved. For permissions, please e-mail:

  14. Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight

    DEFF Research Database (Denmark)

    Tyrrell, Jessica; Richmond, Rebecca C; Palmer, Tom M


    IMPORTANCE: Neonates born to overweight or obese women are larger and at higher risk of birth complications. Many maternal obesity-related traits are observationally associated with birth weight, but the causal nature of these associations is uncertain. OBJECTIVE: To test for genetic evidence...... of causal associations of maternal body mass index (BMI) and related traits with birth weight. DESIGN, SETTING, AND PARTICIPANTS: Mendelian randomization to test whether maternal BMI and obesity-related traits are potentially causally related to offspring birth weight. Data from 30,487 women in 18 studies...

  15. ”How do the patients and their close relatives experience The Coordinated Investigation Model of Dementia in the North Denmark Region?”

    DEFF Research Database (Denmark)

    Hulgaard, Hanne; Ottesen, Aase Marie

    How do the patients and their close relatives experience The Coordinated Investigation Model of Dementia in the North Denmark Region? The aim of the project was to investigate how the patients and their close relatives experienced the investigation and the subsequent social medicine intervention,...... with lowest effective cost. A formal agreement regarding follow-up should be implemented. The relatives should be more involved during both investigation period and in the socio-medical follow-up....

  16. Finger taps and constipation are closely related to symptoms of overactive bladder in male patients with Parkinson's disease. (United States)

    Tsujimura, Akira; Yamamoto, Yoichi; Sakoda, Saburo; Okuda, Hidenobu; Yamamoto, Keisuke; Fukuhara, Shinichiro; Yoshioka, Iwao; Kiuchi, Hiroshi; Takao, Tetsuya; Miyagawa, Yasushi; Nonomura, Norio


    To assess which motor and non-motor symptoms are closely related to overactive bladder severity in male patients with Parkinson's disease. A total of 160 male patients (mean age 71.4 ± 8.2 years) diagnosed with Parkinson's disease were included in the present study at Osaka University and affiliated hospitals. The severity of Parkinson's disease was classified as stage 3, 4 or 5 based on the Hoehn and Yahr staging system. Disease duration was 8.9 ± 5.1 years. Age, seven items from the Unified Parkinson's Disease Rating Scale motor section part III and three non-motor symptoms were assessed by multivariate analysis for their impact on the overactive bladder symptom score, a specific questionnaire for overactive bladder. Overactive bladder symptom score was significantly higher in the group with severe motor symptoms related to finger taps and gait than in the group with mild motor symptoms related to these two factors. Furthermore, overactive bladder symptom score of patients with erectile dysfunction and constipation was significantly higher than that in patients without these symptoms. Multivariate analysis identified only finger taps and constipation as factors independently associated with overactive bladder symptom score. Although a study on a larger scale is required to further assess the association of Parkinson's disease symptoms with overactive bladder symptom score, information on finger taps and severity of constipation should be obtained when assessing urological patients with Parkinson's disease. © 2013 The Japanese Urological Association.

  17. Rapid differentiation of closely related isolates of two plant viruses by polymerase chain reaction and restriction fragment length polymorphism analysis. (United States)

    Barbara, D J; Morton, A; Spence, N J; Miller, A


    Immunocapture reverse transcriptase-polymerase chain reaction (RT-PCR) followed by restriction fragment length polymorphism (RFLP) analysis of the product has been shown to be an effective procedure for discriminating serologically indistinguishable isolates of two plant viruses, raspberry bushy dwarf (RBDV) and zucchini yellow mosaic (ZYMV). For both viruses, only limited sequence information was available at the time of primer design, but most of the isolates which were tested could be amplified (the one exception being a serologically quite distinct isolate of ZYMV). Restriction endonucleases revealing diagnostic RFLPs were readily identified. Each of two isolates of ZYMV could be detected in the presence of the other and the relative proportions approximately quantified by visual estimation of the relative intensity of the appropriate bands. A range of isolates of different RBDV pathotypes were compared; isolates were grouped in ways that accorded with their known history. Computer analysis of the published sequence from which the primers had been derived showed the sequenced isolate to be identical with an isolate imported from the USSR. The PCR/RFLP procedure is rapid (it can be completed in less than 2 days), effective and will probably be generally applicable to distinguishing closely related virus isolates, even where little sequence information is available.

  18. Genetics of allergy and bronchial hyperresponsiveness

    NARCIS (Netherlands)

    Howard, TD; Wiesch, DG; Koppelman, GH; Postma, DS; Meyers, DA; Bleecker, ER

    Allergy and asthma are closely related complex diseases caused by a combination of both genetic and environmental influences. Two common genetic approaches, candidate gene studies and genome-wide screens, have been used to localize and evaluate potential genetic factors that confer susceptibility or

  19. Update on the role of genetics in the onset of age-related macular degeneration (United States)

    Francis, Peter James; Klein, Michael L


    Age-related macular degeneration (AMD), akin to other common age-related diseases, has a complex pathogenesis and arises from the interplay of genes, environmental factors, and personal characteristics. The past decade has seen very significant strides towards identification of those precise genetic variants associated with disease. That genes encoding proteins of the (alternative) complement pathway (CFH, C2, CFB, C3, CFI) are major players in etiology came as a surprise to many but has already lead to the development of therapies entering human clinical trials. Other genes replicated in many populations ARMS2, APOE, variants near TIMP3, and genes involved in lipid metabolism have also been implicated in disease pathogenesis. The genes discovered to date can be estimated to account for approximately 50% of the genetic variance of AMD and have been discovered by candidate gene approaches, pathway analysis, and latterly genome-wide association studies. Next generation sequencing modalities and meta-analysis techniques are being employed with the aim of identifying the remaining rarer but, perhaps, individually more significant sequence variations, linked to disease status. Complementary studies have also begun to utilize this genetic information to develop clinically useful algorithms to predict AMD risk and evaluate pharmacogenetics. In this article, contemporary commentary is provided on rapidly progressing efforts to elucidate the genetic pathogenesis of AMD as the field stands at the end of the first decade of the 21st century. PMID:21887094

  20. Genetic variants of the unsaturated fatty acid receptor GPR120 relating to obesity in dogs. (United States)

    Miyabe, Masahiro; Gin, Azusa; Onozawa, Eri; Daimon, Mana; Yamada, Hana; Oda, Hitomi; Mori, Akihiro; Momota, Yutaka; Azakami, Daigo; Yamamoto, Ichiro; Mochizuki, Mariko; Sako, Toshinori; Tamura, Katsutoshi; Ishioka, Katsumi


    G protein-coupled receptor (GPR) 120 is an unsaturated fatty acid receptor, which is associated with various physiological functions. It is reported that the genetic variant of GPR120, p.Arg270His, is detected more in obese people, and this genetic variation functionally relates to obesity in humans. Obesity is a common nutritional disorder also in dogs, but the genetic factors have not ever been identified in dogs. In this study, we investigated the molecular structure of canine GPR120 and searched for candidate genetic variants which may relate to obesity in dogs. Canine GPR120 was highly homologous to those of other species, and seven transmembrane domains and two N-glycosylation sites were conserved. GPR120 mRNA was expressed in lung, jejunum, ileum, colon, hypothalamus, hippocampus, spinal cord, bone marrow, dermis and white adipose tissues in dogs, as those in mice and humans. Genetic variants of GPR120 were explored in client-owned 141 dogs, resulting in that 5 synonymous and 4 non-synonymous variants were found. The variant c.595C>A (p.Pro199Thr) was found in 40 dogs, and the gene frequency was significantly higher in dogs with higher body condition scores, i.e. 0.320 in BCS4-5 dogs, 0.175 in BCS3 dogs and 0.000 in BCS2 dogs. We conclude that c.595C>A (p.Pro199Thr) is a candidate variant relating to obesity, which may be helpful for nutritional management of dogs.

  1. Characterization of a novel Lactobacillus species closely related to Lactobacillus johnsonii using a combination of molecular and comparative genomics methods

    Directory of Open Access Journals (Sweden)

    Pérez-Martínez Gaspar


    Full Text Available Abstract Background Comparative genomic hybridization (CGH constitutes a powerful tool for identification and characterization of bacterial strains. In this study we have applied this technique for the characterization of a number of Lactobacillus strains isolated from the intestinal content of rats fed with a diet supplemented with sorbitol. Results Phylogenetic analysis based on 16S rRNA gene, recA, pheS, pyrG and tuf sequences identified five bacterial strains isolated from the intestinal content of rats as belonging to the recently described Lactobacillus taiwanensis species. DNA-DNA hybridization experiments confirmed that these five strains are distinct but closely related to Lactobacillus johnsonii and Lactobacillus gasseri. A whole genome DNA microarray designed for the probiotic L. johnsonii strain NCC533 was used for CGH analysis of L. johnsonii ATCC 33200T, L. johnsonii BL261, L. gasseri ATCC 33323T and L. taiwanensis BL263. In these experiments, the fluorescence ratio distributions obtained with L. taiwanensis and L. gasseri showed characteristic inter-species profiles. The percentage of conserved L. johnsonii NCC533 genes was about 83% in the L. johnsonii strains comparisons and decreased to 51% and 47% for L. taiwanensis and L. gasseri, respectively. These results confirmed the separate status of L. taiwanensis from L. johnsonii at the level of species, and also that L. taiwanensis is closer to L. johnsonii than L. gasseri is to L. johnsonii. Conclusion Conventional taxonomic analyses and microarray-based CGH analysis have been used for the identification and characterization of the newly species L. taiwanensis. The microarray-based CGH technology has been shown as a remarkable tool for the identification and fine discrimination between phylogenetically close species, and additionally provided insight into the adaptation of the strain L. taiwanensis BL263 to its ecological niche.

  2. Association of Genetic Variants Related to Serum Calcium Levels With Coronary Artery Disease and Myocardial Infarction. (United States)

    Larsson, Susanna C; Burgess, Stephen; Michaëlsson, Karl


    Serum calcium has been associated with cardiovascular disease in observational studies and evidence from randomized clinical trials indicates that calcium supplementation, which raises serum calcium levels, may increase the risk of cardiovascular events, particularly myocardial infarction. To evaluate the potential causal association between genetic variants related to elevated serum calcium levels and risk of coronary artery disease (CAD) and myocardial infarction using mendelian randomization. The analyses were performed using summary statistics obtained for single-nucleotide polymorphisms (SNPs) identified from a genome-wide association meta-analysis of serum calcium levels (N = up to 61 079 individuals) and from the Coronary Artery Disease Genome-wide Replication and Meta-analysis Plus the Coronary Artery Disease Genetics (CardiogramplusC4D) consortium's 1000 genomes-based genome-wide association meta-analysis (N = up to 184 305 individuals) that included cases (individuals with CAD and myocardial infarction) and noncases, with baseline data collected from 1948 and populations derived from across the globe. The association of each SNP with CAD and myocardial infarction was weighted by its association with serum calcium, and estimates were combined using an inverse-variance weighted meta-analysis. Genetic risk score based on genetic variants related to elevated serum calcium levels. Co-primary outcomes were the odds of CAD and myocardial infarction. Among the mendelian randomized analytic sample of 184 305 individuals (60 801 CAD cases [approximately 70% with myocardial infarction] and 123 504 noncases), the 6 SNPs related to serum calcium levels and without pleiotropic associations with potential confounders were estimated to explain about 0.8% of the variation in serum calcium levels. In the inverse-variance weighted meta-analysis (combining the estimates of the 6 SNPs), the odds ratios per 0.5-mg/dL increase (about 1 SD) in genetically

  3. An analysis of psychotropic drug sales. Increasing sales of selective serotonin reuptake inhibitors are closely related to number of products. (United States)

    Nielsen, Margrethe; Gøtzsche, Peter


    Prescribing of selective serotonin reuptake inhibitors (SSRIs) has increased dramatically. To compare the sales of benzodiazepines and SSRIs within the primary care sector in Denmark and relate changes in usage to number of indications and products on the market. We used data from various sources to establish the sales curves of psychotropic drugs in the period 1970 to 2007, based on the Anatomic Therapeutic Classification system and Defined Daily Doses. Fluctuations in sales of psychotropic drugs that cannot be explained by disease prevalence were caused by changes in sales of the benzodiazepines and SSRIs. We found a decline in the sales of benzodiazepines after a peak in 1986, likely due to the recognition that they cause dependence. From a low level in 1992, we found that the sales of SSRIs increased almost linearly by a factor of 18, up to 44 DDD per 1000 inhabitants, which was closely related to the number of products on the market that increased by a factor of 16. Sales of antidepressant drugs are mainly determined by market availability of products indicating that marketing pressures are playing an important role. Thus the current level of use of SSRIs may not be evidence-based, which is supported by studies showing that the effect of SSRIs has been overestimated.

  4. Close relation of interpersonal sensitivity with negative core beliefs about the self, the central construct of cognitive vulnerability to depression. (United States)

    Otani, Koichi; Suzuki, Akihito; Matsumoto, Yoshihiko; Shirata, Toshinori


    Interpersonal sensitivity is a personality trait linked with anxious attachment conceptualized in attachment theory. This personality trait is comprised of four components, i.e., interpersonal awareness, separation anxiety, timidity and fragile inner-self, which are measured by the corresponding subscales of the Interpersonal Sensitivity Measure (IPSM). Meanwhile, one study showed that six items of the IPSM tentatively used as negative self-schemas predicted the onset of depression. To clarify if interpersonal sensitivity reflects cognitive vulnerability, we examined the relation of this personality trait with negative core beliefs about the self. The study population consisted of 335 Japanese volunteers. Interpersonal sensitivity was measured by the IPSM, and negative core beliefs about the self were assessed by the negative-self subscale of the Brief Core Schema Scales (BCSS). Multiple regression analysis showed that scores of the four subscales of the IPSM were strongly correlated with those of the negative-self subscale of the BCSS (P < 0.001). Similarly, sequential equation modeling demonstrated that the four components of interpersonal sensitivity were strongly predicted by core beliefs of negative-self (P < 0.001). The present study shows that interpersonal sensitivity is closely related to negative core beliefs about the self, suggesting that this personality trait can be regarded as a cognitive vulnerability to depression. Copyright © 2018 Elsevier B.V. All rights reserved.

  5. Gustatory sensitivity and food acceptance in two phylogenetically closely related papilionid species: Papilio hospiton and Papilio machaon. (United States)

    Sollai, Giorgia; Tomassini Barbarossa, Iole; Masala, Carla; Solari, Paolo; Crnjar, Roberto


    In herbivorous insects, food selection depends on sensitivity to specific chemical stimuli from host-plants as well as to secondary metabolites (bitter) and to sugars (phagostimulatory). Bitter compounds are noxious, unpalatable or both and evoke an aversive feeding response. Instead, sugars and sugar alcohols play a critical role in determining and enhancing the palatability of foods. We assumed that peripheral taste sensitivity may be related to the width of the host selection. Our model consists of two closely phylogenetically related Papilionid species exhibiting a difference in host plant choice: Papilio hospiton and Papilio machaon. The spike activity of the lateral and medial maxillary styloconic taste sensilla was recorded following stimulation with several carbohydrates, nicotine and NaCl, with the aim of characterizing their gustatory receptor neurons and of comparing their response patterns in the light of their different acceptability in feeding behaviour. The results show that: a) each sensillum houses phagostimulant and phagodeterrent cells; b) the spike activity of the gustatory neurons in response to different taste stimuli is higher in P. hospiton than in P. machaon; c) sugar solutions inhibit the spike activity of the deterrent and salt cells, and the suppression is higher in P. machaon than in P. hospiton. In conclusion, we propose that the different balance between the phagostimulant and phagodeterrent inputs from GRNs of maxillary sensilla may contribute in determining the difference in food choice and host range.

  6. Phylogeny, Traits, and Biodiversity of a Neotropical Bat Assemblage: Close Relatives Show Similar Responses to Local Deforestation. (United States)

    Frank, Hannah K; Frishkoff, Luke O; Mendenhall, Chase D; Daily, Gretchen C; Hadly, Elizabeth A


    If species' evolutionary pasts predetermine their responses to evolutionarily novel stressors, then phylogeny could predict species survival in an increasingly human-dominated world. To understand the role of phylogenetic relatedness in structuring responses to rapid environmental change, we focused on assemblages of Neotropical bats, an ecologically diverse and functionally important group. We examined how taxonomic and phylogenetic diversity shift between tropical forest and farmland. We then explored the importance of evolutionary history by ascertaining whether close relatives share similar responses to environmental change and which species traits might mediate these trends. We analyzed a 5-year data set (5,011 captures) from 18 sites in a countryside landscape in southern Costa Rica using statistical models that account and correct for imperfect detection of species across sites, spatial autocorrelation, and consideration of spatial scale. Taxonomic and phylogenetic diversity decreased with deforestation, and assemblages became more phylogenetically clustered. Species' responses to deforestation were strongly phylogenetically correlated. Body mass and absolute wing loading explained a substantial portion of species variation in species' habitat preferences, likely related to these traits' influence on maneuverability in cluttered forest environments. Our findings highlight the role that evolutionary history plays in determining which species will survive human impacts and the need to consider diversity metrics, evolutionary history, and traits together when making predictions about species persistence for conservation or ecosystem functioning.

  7. Gustatory sensitivity and food acceptance in two phylogenetically closely related papilionid species: Papilio hospiton and Papilio machaon.

    Directory of Open Access Journals (Sweden)

    Giorgia Sollai

    Full Text Available In herbivorous insects, food selection depends on sensitivity to specific chemical stimuli from host-plants as well as to secondary metabolites (bitter and to sugars (phagostimulatory. Bitter compounds are noxious, unpalatable or both and evoke an aversive feeding response. Instead, sugars and sugar alcohols play a critical role in determining and enhancing the palatability of foods. We assumed that peripheral taste sensitivity may be related to the width of the host selection. Our model consists of two closely phylogenetically related Papilionid species exhibiting a difference in host plant choice: Papilio hospiton and Papilio machaon. The spike activity of the lateral and medial maxillary styloconic taste sensilla was recorded following stimulation with several carbohydrates, nicotine and NaCl, with the aim of characterizing their gustatory receptor neurons and of comparing their response patterns in the light of their different acceptability in feeding behaviour. The results show that: a each sensillum houses phagostimulant and phagodeterrent cells; b the spike activity of the gustatory neurons in response to different taste stimuli is higher in P. hospiton than in P. machaon; c sugar solutions inhibit the spike activity of the deterrent and salt cells, and the suppression is higher in P. machaon than in P. hospiton. In conclusion, we propose that the different balance between the phagostimulant and phagodeterrent inputs from GRNs of maxillary sensilla may contribute in determining the difference in food choice and host range.

  8. Echocardiographic evaluation of pre-diagnostic development in young relatives genetically predisposed to hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Jensen, Morten K; Havndrup, Ole; Christiansen, Michael


    Identification of the first echocardiographic manifestations of hypertrophic cardiomyopathy may be important for clinical management and our understanding of the pathogenesis. We studied the development of pre-diagnostic echocardiographic changes in young relatives to HCM patients during long...... of relatives with unknown genetic status. Children carrying pathogenic sarcomere gene mutations develop reduced LVEDd and increased E/e' as first pre-diagnostic echocardiographic manifestations during follow-up into adulthood.......-term years follow-up. HCM-relatives not fulfilling the diagnostic criteria for HCM and age of family screening of 11 sarcomere genes, CRYAB, α-GAL, and titin, we evaluated...

  9. Genetic influence on the relation between exhaled nitric oxide and pulse wave reflection. (United States)

    Tarnoki, David Laszlo; Tarnoki, Adam Domonkos; Medda, Emanuela; Littvay, Levente; Lazar, Zsofia; Toccaceli, Virgilia; Fagnani, Corrado; Stazi, Maria Antonietta; Nisticó, Lorenza; Brescianini, Sonia; Penna, Luana; Lucatelli, Pierleone; Boatta, Emanuele; Zini, Chiara; Fanelli, Fabrizio; Baracchini, Claudio; Meneghetti, Giorgio; Koller, Akos; Osztovits, Janos; Jermendy, Gyorgy; Preda, Istvan; Kiss, Robert Gabor; Karlinger, Kinga; Lannert, Agnes; Horvath, Tamas; Schillaci, Giuseppe; Molnar, Andrea Agnes; Garami, Zsolt; Berczi, Viktor; Horvath, Ildiko


    Nitric oxide has an important role in the development of the structure and function of the airways and vessel walls. Fractional exhaled nitric oxide (FE(NO)) is inversely related to the markers and risk factors of atherosclerosis. We aimed to estimate the relative contribution of genes and shared and non-shared environmental influences to variations and covariation of FE(NO) levels and the marker of elasticity function of arteries. Adult Caucasian twin pairs (n = 117) were recruited in Hungary, Italy and in the United States (83 monozygotic and 34 dizygotic pairs; age: 48 ± 16 SD years). FE(NO) was measured by an electrochemical sensor-based device. Pulse wave reflection (aortic augmentation index, Aix(ao)) was determined by an oscillometric method (Arteriograph). A bivariate Cholesky decomposition model was applied to investigate whether the heritabilities of FE(NO) and Aix(ao) were linked. Genetic effects accounted for 58% (95% confidence interval (CI): 42%, 71%) of the variation in FE(NO) with the remaining 42% (95%CI: 29%, 58%) due to non-shared environmental influences. A modest negative correlation was observed between FE(NO) and Aix(ao) (r = -0.17; 95%CI:-0.32,-0.02). FE(NO) showed a significant negative genetic correlation with Aix(ao) (r(g) = -0.25; 95%CI:-0.46,-0.02). Thus in humans, variations in FE(NO) are explained both by genetic and non-shared environmental effects. Covariance between FE(NO) and Aix(ao) is explained entirely by shared genetic factors. This is consistent with an overlap among the sets of genes involved in the expression of these phenotypes and provides a basis for further genetic studies on cardiovascular and respiratory diseases.

  10. Genetic and non-iodine-related factors in the aetiology of nodular goitre

    DEFF Research Database (Denmark)

    Knudsen, Nils; Brix, Thomas Heiberg


    Genetic and a large number of environmental non-iodine-related factors play a role in the cause of nodular goitre. Most evidence for the influence of genetic and environmental factors in the cause of goitre is from cross-sectional, population-based studies. Only a few studies have included...... prospective data on risk factors for nodular goitre, although few prospective data are available on the effect of iodine and tobacco smoking on goitre development. Goitre is not one single phenotype. Many epidemiological studies do not distinguish diffuse from nodular goitre, as the investigated parameter...... is often thyroid volume or frequency with increased thyroid volume. Moreover, information on the presence and effect of gene-environment, gene-gene, and environment-environment effect modifications is limited. Thus, firm conclusions about the relative contributions and causality of the investigated risk...

  11. Cancer-related inflammation, the seventh hallmark of cancer: links to genetic instability. (United States)

    Colotta, Francesco; Allavena, Paola; Sica, Antonio; Garlanda, Cecilia; Mantovani, Alberto


    Inflammatory conditions in selected organs increase the risk of cancer. An inflammatory component is present also in the microenvironment of tumors that are not epidemiologically related to inflammation. Recent studies have begun to unravel molecular pathways linking inflammation and cancer. In the tumor microenvironment, smoldering inflammation contributes to proliferation and survival of malignant cells, angiogenesis, metastasis, subversion of adaptive immunity, reduced response to hormones and chemotherapeutic agents. Recent data suggest that an additional mechanism involved in cancer-related inflammation (CRI) is induction of genetic instability by inflammatory mediators, leading to accumulation of random genetic alterations in cancer cells. In a seminal contribution, Hanahan and Weinberg [(2000) Cell, 100, 57-70] identified the six hallmarks of cancer. We surmise that CRI represents the seventh hallmark.

  12. Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.

    Directory of Open Access Journals (Sweden)

    Iris Broce


    Full Text Available Converging evidence suggests that immune-mediated dysfunction plays an important role in the pathogenesis of frontotemporal dementia (FTD. Although genetic studies have shown that immune-associated loci are associated with increased FTD risk, a systematic investigation of genetic overlap between immune-mediated diseases and the spectrum of FTD-related disorders has not been performed.Using large genome-wide association studies (GWASs (total n = 192,886 cases and controls and recently developed tools to quantify genetic overlap/pleiotropy, we systematically identified single nucleotide polymorphisms (SNPs jointly associated with FTD-related disorders-namely, FTD, corticobasal degeneration (CBD, progressive supranuclear palsy (PSP, and amyotrophic lateral sclerosis (ALS-and 1 or more immune-mediated diseases including Crohn disease, ulcerative colitis (UC, rheumatoid arthritis (RA, type 1 diabetes (T1D, celiac disease (CeD, and psoriasis. We found up to 270-fold genetic enrichment between FTD and RA, up to 160-fold genetic enrichment between FTD and UC, up to 180-fold genetic enrichment between FTD and T1D, and up to 175-fold genetic enrichment between FTD and CeD. In contrast, for CBD and PSP, only 1 of the 6 immune-mediated diseases produced genetic enrichment comparable to that seen for FTD, with up to 150-fold genetic enrichment between CBD and CeD and up to 180-fold enrichment between PSP and RA. Further, we found minimal enrichment between ALS and the immune-mediated diseases tested, with the highest levels of enrichment between ALS and RA (up to 20-fold. For FTD, at a conjunction false discovery rate < 0.05 and after excluding SNPs in linkage disequilibrium, we found that 8 of the 15 identified loci mapped to the human leukocyte antigen (HLA region on Chromosome (Chr 6. We also found novel candidate FTD susceptibility loci within LRRK2 (leucine rich repeat kinase 2, TBKBP1 (TBK1 binding protein 1, and PGBD5 (piggyBac transposable element

  13. Aedeagus morphology as a discriminant marker in two closely related Cactophilic species of Drosophila (Diptera; Drosophilidae in South America

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    Franco Fernando F.


    Full Text Available Drosophila serido and D. antonietae are sibling species belonging to the Drosophila buzzatii cluster. Morphologically, they can only be discriminated by quantitative traits. In this paper we analyze the length and equalized average curvature of four regions of the aedeagus of D. antonietae and D. serido. Specimens of D. serido and D. antonietae were classified correctly 96.74% of the time. Based only on the variable that most contributed to the discrimination of the groups (equalized average curvature of the arch IV of the aedeagus, we observed significant intraspecific morphological divergence in D. serido in relation to the D. antonietae, in agreement with other markers. The high morphological divergence in equalized average curvature of the arch IV of the aedeagus shows that this region evolved faster than others, since the divergence of the two species. The importance of the present study to the understanding of the genetic basis that controls the formation of the aedeagus, in the species of the Drosophila buzzatii cluster, is discussed.

  14. Mycobacterium franklinii sp. nov., a species closely related to members of the Mycobacterium chelonae-Mycobacterium abscessus group. (United States)

    Lourenço Nogueira, Christiane; Simmon, Keith E; Chimara, Erica; Cnockaert, Margo; Carlos Palomino, Juan; Martin, Anandi; Vandamme, Peter; Brown-Elliott, Barbara A; Wallace, Richard; Cardoso Leão, Sylvia


    Two isolates from water, D16Q19 and D16R27, were shown to be highly similar in their 16S rRNA, 16S-23S internal transcribed spacer (ITS), hsp65 and rpoB gene sequences to 'Mycobacterium franklinii' DSM 45524, described in 2011 but with the name not validly published. They are all nonpigmented rapid growers and are related phenotypically and genetically to the Mycobacterium chelonae-Mycobacterium abscessus group. Extensive characterization by phenotypic analysis, biochemical tests, drug susceptibility testing, PCR restriction enzyme analysis of the hsp65 gene and ITS, DNA sequencing of housekeeping genes and DNA-DNA hybridization demonstrated that 'M. franklinii' DSM 45524, D16Q19 and D16R27 belong to a single species that is separated from other members of the M. chelonae-M. abscessus group. On the basis of these results we propose the formal recognition of Mycobacterium franklinii sp. nov. Strain DSM 45524(T) ( = ATCC BAA-2149(T)) is the type strain.

  15. <Symposium I>Genetic dissection of age-related memory impairment in Drosophila


    Yamazaki, Daisuke; Horiuchi, Junjiro; Saitoe, Minoru


    Age-related memory impairment (AMI) is an important phenotype of brain aging. Understandingthe molecular mechanisms underlying AMI is important not only from a scientific viewpoint but also for thedevelopment of therapeutics that may eventually lead to developing drugs to combat memory loss. AMI has beengenerally considered to be an overall or nonspecifi c decay of memory processes that results from dysfunction ofneural networks. However, extensive behavioral genetic characterization of AMI w...

  16. Association study of functional genetic variants of innate immunity related genes in celiac disease

    Directory of Open Access Journals (Sweden)

    Martín J


    Full Text Available Abstract Background Recent evidence suggest that the innate immune system is implicated in the early events of celiac disease (CD pathogenesis. In this work for the first time we have assessed the relevance of different proinflammatory mediators typically related to innate immunity in CD predisposition. Methods We performed a familial study in which 105 celiac families characterized by the presence of an affected child with CD were genotyped for functional polymorphisms located at regulatory regions of IL-1α, IL-1β, IL-1RN, IL-18, RANTES and MCP-1 genes. Familial data was analysed with a transmission disequilibrium test (TDT that revealed no statistically significant differences in the transmission pattern of the different genetic markers considered. Results The TDT analysis for IL-1α, IL-1β, IL-1RN, IL-18, and MCP-1 genes genetic variants did not reveal biased transmission to the affected offspring. Only a borderline association of RANTES promoter genetic variants with CD predisposition was observed. Conclusion Our results suggest that the analysed polymorphisms of IL-1α, IL-1β, IL-1RN, IL-18, RANTES and MCP-1 genes do not seem to play a major role in CD genetic predisposition in our population.

  17. The relative importance of genetic and environmental effects for the early stages of thyroid autoimmunity

    DEFF Research Database (Denmark)

    Hansen, Pia S; Brix, Thomas H; Iachine, Ivan


    OBJECTIVE: In euthyroid individuals, autoantibodies to thyroid peroxidase (TPOab) and thyroglobulin (Tgab) are regarded as early markers of thyroid autoimmunity. Family and twin studies suggest that development of thyroid autoantibodies in first-degree relatives of patients with autoimmune thyroi....... The analyses suggest that it is the same set of genes that operate in males and females. However, complex mechanisms such as dominance and/or epistasis may be involved....... concordance and intraclass correlations were consistently higher for MZ than for DZ twin pairs indicating genetic influence. Genetic components (with 95% confidence intervals) accounted for 73% (46-89%) of the liability of being thyroid antibody positive. Adjusting for covariates (age, TSH and others......), the estimate for genetic influence on serum TPOab concentrations was 61% (49-70%) in males and 72% (64-79%) in females. For serum Tgab concentrations, the estimates were 39% (24-51%) and 75% (66-81%) respectively. CONCLUSIONS: Early markers of thyroid autoimmunity appear to be under strong genetic influence...

  18. Progress and Prospects in Human Genetic Research into Age-Related Hearing Impairment

    Directory of Open Access Journals (Sweden)

    Yasue Uchida


    Full Text Available Age-related hearing impairment (ARHI is a complex, multifactorial disorder that is attributable to confounding intrinsic and extrinsic factors. The degree of impairment shows substantial variation between individuals, as is also observed in the senescence of other functions. This individual variation would seem to refute the stereotypical view that hearing deterioration with age is inevitable and may indicate that there is ample scope for preventive intervention. Genetic predisposition could account for a sizable proportion of interindividual variation. Over the past decade or so, tremendous progress has been made through research into the genetics of various forms of hearing impairment, including ARHI and our knowledge of the complex mechanisms of auditory function has increased substantially. Here, we give an overview of recent investigations aimed at identifying the genetic risk factors involved in ARHI and of what we currently know about its pathophysiology. This review is divided into the following sections: (i genes causing monogenic hearing impairment with phenotypic similarities to ARHI; (ii genes involved in oxidative stress, biologic stress responses, and mitochondrial dysfunction; and (iii candidate genes for senescence, other geriatric diseases, and neurodegeneration. Progress and prospects in genetic research are discussed.

  19. [Environmental and genetic variables related with alterations in language acquisition in early childhood]. (United States)

    Moriano-Gutierrez, A; Colomer-Revuelta, J; Sanjuan, J; Carot-Sierra, J M


    A great deal of research has addressed problems in the correct acquisition of language, but with few overall conclusions. The reasons for this lie in the individual variability, the existence of different measures for assessing language and the fact that a complex network of genetic and environmental factors are involved in its development. To review the environmental and genetic variables that have been studied to date, in order to gain a better under-standing of the causes of specific language impairment and create new evidence that can help in the development of screening systems for the early detection of these disorders. The environmental variables related with poorer early child language development include male gender, low level of education of the mother, familial history of problems with language or psychiatric problems, perinatal problems and health problems in early childhood. Bilingualism seems to be a protective factor. Temperament and language are related. Within the genetic factors there are several specific genes associated with language, two of which have a greater influence on its physiological acquisition: FOXP2 and CNTNAP2. The other genes that are most related with specific language disorders are ATP2C2, CMIP, ROBO2, ZNF277 and NOP9. The key to comprehending the development of specific language disorders lies in reaching an understanding of the true role played by genes in the ontogenesis, in the regulation of the different developmental processes, and how this role is modulated by the environment.

  20. Use of a twin dataset to identify AMD-related visual patterns controlled by genetic factors (United States)

    Quellec, Gwénolé; Abràmoff, Michael D.; Russell, Stephen R.


    The mapping of genotype to the phenotype of age-related macular degeneration (AMD) is expected to improve the diagnosis and treatment of the disease in a near future. In this study, we focused on the first step to discover this mapping: we identified visual patterns related to AMD which seem to be controlled by genetic factors, without explicitly relating them to the genes. For this purpose, we used a dataset of eye fundus photographs from 74 twin pairs, either monozygotic twins, who have the same genotype, or dizygotic twins, whose genes responsible for AMD are less likely to be identical. If we are able to differentiate monozygotic twins from dizygotic twins, based on a given visual pattern, then this pattern is likely to be controlled by genetic factors. The main visible consequence of AMD is the apparition of drusen between the retinal pigment epithelium and Bruch's membrane. We developed two automated drusen detectors based on the wavelet transform: a shape-based detector for hard drusen, and a texture- and color- based detector for soft drusen. Forty visual features were evaluated at the location of the automatically detected drusen. These features characterize the texture, the shape, the color, the spatial distribution, or the amount of drusen. A distance measure between twin pairs was defined for each visual feature; a smaller distance should be measured between monozygotic twins for visual features controlled by genetic factors. The predictions of several visual features (75.7% accuracy) are comparable or better than the predictions of human experts.

  1. Hypocrea rufa/Trichoderma viride: a reassessment, and description of five closely related species with and without warted conidia. (United States)

    Jaklitsch, Walter M; Samuels, Gary J; Dodd, Sarah L; Lu, Bing-Sheng; Druzhinina, Irina S


    The type species of the genus Hypocrea (Hypocreaceae, Hypocreales, Ascomycota, Fungi), H. rufa, is re-defined and epitypified using a combination of phenotype (morphology of teleomorphs and anamorphs, and characteristics in culture) and phylogenetic analyses of the translation-elongation factor 1alpha gene. Its anamorph, T. viride, the type species of Trichoderma, is re-described and epitypified. Eidamia viridescens is combined as Trichoderma viridescens and is recognised as one of the most morphologically and phylogenetically similar relatives of T. viride. Its teleomorph is newly described as Hypocrea viridescens. Contrary to frequent citations of H. rufa and T. viride in the literature, this species is relatively rare. Although both T. viride and T. viridescens have a wide geographic distribution, their greatest genetic diversity appears to be in Europe and North America. Hypocrea vinosa is characterised and its anamorph, T. vinosum sp. nov., is described. Conidia of T. vinosum are subglobose and warted. The new species T. gamsii is proposed. It shares eidamia-like morphology of conidiophores with T. viridescens, but it has smooth, ellipsoidal conidia that have the longest L/W ratio that we have seen in Trichoderma. Trichoderma scalesiae, an endophyte of trunks of Scalesia pedunculata in the Galapagos Islands, is described as new. It only produces conidia on a low-nutrient agar to which filter paper has been added. Additional phylogenetically distinct clades are recognised and provisionally delimited from the species here described. Trichoderma neokoningii, a T. koningii-like species, is described from a collection made in Peru on a fruit of Theobroma cacao infected with Moniliophthora roreri.

  2. The standard genetic code and its relation to mutational pressure: robustness and equilibrium criteria

    International Nuclear Information System (INIS)

    Hernandez Caceres, Jose Luis; Hong, Rolando; Martinez Ortiz, Carlos; Sautie Castellanos, Miguel; Valdes, Kiria; Guevara Erra, Ramon


    Under the assumption of even point mutation pressure on the DNA strand, rates for transitions from one amino acid into another were assessed. Nearly 25% of all mutations were silent. About 48% of the mutations from a given amino acid stream either into the same amino acid or into an amino acid of the same class. These results suggest a great stability of the Standard Genetic Code respect to mutation load. Concepts from chemical equilibrium theory are applicable into this case provided that mutation rate constants are given. It was obtained that unequal synonymic codon usage may lead to changes in the equilibrium concentrations. Data from real biological species showed that several amino acids are close to the respective equilibrium concentration. However in all the cases the concentration of leucine nearly doubled its equilibrium concentration, whereas for the stop command (Term) it was about 10 times lower. The overall distance from equilibrium for a set of species suggests that eukaryotes are closer to equilibrium than prokaryotes, and the HIV virus was closest to equilibrium among 15 species. We obtained that contemporary species are closer to the equilibrium than the Last Universal Common Ancestor (LUCA) was. Similarly, nonpreserved regions in proteins are closer to equilibrium than the preserved ones. We suggest that this approach can be useful for exploring some aspects of biological evolution in the framework of Standard Genetic Code properties. (author)

  3. Ethical and clinical practice considerations for genetic counselors related to direct-to-consumer marketing of genetic tests. (United States)

    Wade, Christopher H; Wilfond, Benjamin S


    Several companies utilize direct-to-consumer (DTC) advertising for genetic tests and some, but not all, bypass clinician involvement by offering DTC purchase of the tests. This article examines how DTC marketing strategies may affect genetic counselors, using available cardiovascular disease susceptibility tests as an illustration. The interpretation of these tests is complex and includes consideration of clinical validity and utility, and the further complications of gene-environment interactions and pleiotropy. Although it is unclear to what extent genetic counselors will encounter clients who have been exposed to DTC marketing strategies, these strategies may influence genetic counseling interactions if they produce directed interest in specific tests and unrealistic expectations for the tests' capacity to predict disease. Often, a client's concern about risk for cardiovascular diseases is best addressed by established clinical tests and a family history assessment. Ethical dilemmas may arise for genetic counselors who consider whether to accept clients who request test interpretation or to order DTC-advertised tests that require a clinician's authorization. Genetic counselors' obligations to care for clients extend to interpreting DTC tests, although this obligation may be fulfilled by referral or consultation with specialists. Genetic counselors do not have an obligation to order DTC-advertised tests that have minimal clinical validity and utility at a client's request. This can be a justified restriction on autonomy based on consideration of risks to the client, the costs, and the implications for society. Published 2006 Wiley-Liss, Inc.

  4. Brucella Genetic Variability in Wildlife Marine Mammals Populations Relates to Host Preference and Ocean Distribution. (United States)

    Suárez-Esquivel, Marcela; Baker, Kate S; Ruiz-Villalobos, Nazareth; Hernández-Mora, Gabriela; Barquero-Calvo, Elías; González-Barrientos, Rocío; Castillo-Zeledón, Amanda; Jiménez-Rojas, César; Chacón-Díaz, Carlos; Cloeckaert, Axel; Chaves-Olarte, Esteban; Thomson, Nicholas R; Moreno, Edgardo; Guzmán-Verri, Caterina


    Intracellular bacterial pathogens probably arose when their ancestor adapted from a free-living environment to an intracellular one, leading to clonal bacteria with smaller genomes and less sources of genetic plasticity. Still, this plasticity is needed to respond to the challenges posed by the host. Members of the Brucella genus are facultative-extracellular intracellular bacteria responsible for causing brucellosis in a variety of mammals. The various species keep different host preferences, virulence, and zoonotic potential despite having 97-99% similarity at genome level. Here, we describe elements of genetic variation in Brucella ceti isolated from wildlife dolphins inhabiting the Pacific Ocean and the Mediterranean Sea. Comparison with isolates obtained from marine mammals from the Atlantic Ocean and the broader Brucella genus showed distinctive traits according to oceanic distribution and preferred host. Marine mammal isolates display genetic variability, represented by an important number of IS711 elements as well as specific IS711 and SNPs genomic distribution clustering patterns. Extensive pseudogenization was found among isolates from marine mammals as compared with terrestrial ones, causing degradation in pathways related to energy, transport of metabolites, and regulation/transcription. Brucella ceti isolates infecting particularly dolphin hosts, showed further degradation of metabolite transport pathways as well as pathways related to cell wall/membrane/envelope biogenesis and motility. Thus, gene loss through pseudogenization is a source of genetic variation in Brucella, which in turn, relates to adaptation to different hosts. This is relevant to understand the natural history of bacterial diseases, their zoonotic potential, and the impact of human interventions such as domestication. © The Author 2017. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

  5. Comparison of Genetic Variants in Cancer-Related Genes between Chinese Hui and Han Populations.

    Directory of Open Access Journals (Sweden)

    Chaoyong Tian

    Full Text Available The Chinese Hui population, as the second largest minority ethnic group in China, may have a different genetic background from Han people because of its unique demographic history. In this study, we aimed to identify genetic differences between Han and Hui Chinese from the Ningxia region of China by comparing eighteen single nucleotide polymorphisms in cancer-related genes.DNA samples were collected from 99 Hui and 145 Han people from the Ningxia Hui Autonomous Region in China, and SNPs were detected using an improved multiplex ligase detection reaction method. Genotyping data from six 1000 Genomes Project population samples (99 Utah residents with northern and western European ancestry (CEU, 107 Toscani in Italy (TSI, 108 Yoruba in Ibadan (YRI, 61 of African ancestry in the southwestern US (ASW, 103 Han Chinese in Beijing (CHB, and 104 Japanese in Tokyo (JPT were also included in this study. Differences in the distribution of alleles among the populations were assessed using χ2 tests, and FST was used to measure the degree of population differentiation.We found that the genetic diversity of many SNPs in cancer-related genes in the Hui Chinese in Ningxia was different from that in the Han Chinese in Ningxia. For example, the allele frequencies of four SNPs (rs13361707, rs2274223, rs465498, and rs753955 showed different genetic distributions (p0.000 between the Hui and Han populations.These results suggest that some SNPs associated with cancer-related genes vary among different Chinese ethnic groups. We suggest that population differences should be carefully considered in evaluating cancer risk and prognosis as well as the efficacy of cancer therapy.

  6. The experience of being a middle-aged close relative of a person who has suffered a stroke--six months after discharge from a rehabilitation clinic. (United States)

    Bäckström, Britt; Sundin, Karin


    Being a close relative brings with it a large number of consequences, with the life situation changing over time. The aim of this study was to illuminate the experiences of being a middle-aged close relative of a person who has suffered a stroke 6 months after being discharged from a medical rehabilitation clinic. Narrative interviews were conducted with nine middle-aged close relatives and analysed using a content analysis with a latent approach. The analysis revealed that being close to someone who had suffered a stroke 6 months after discharge meant; a struggling for control and a renewal of family life in the shadow of suffering and hope. The middle-aged close relatives began to perceive the changed reality. They were struggling to take on something new, become reconciled and find a balance in their family life. Their ability to work, relief from caring concerns and having support and togetherness with others seemed to be essential for the close relatives in their efforts to manage their life situation and maintain their well-being. Having reached the 'halfway point' in their lives and still with half of their life in front of them created worries. They felt dejected about their changed relationships and roles, experience a sense of loss of shared child responsibilities, a negative impact on their marital relationships and sexual satisfaction. They felt trapped in a caring role and they worried about how to endure in the future. The middle-aged close relatives' experiences were of being alone and neglected, in an arduous and complex life situation filled with loss and grief. The findings highlights that health professionals need to see and listen to the close relatives' experiences of transition in order to provide appropriate support adjusted to their varying needs during a time of renewal.

  7. A new isolation with migration model along complete genomes infers very different divergence processes among closely related great ape species.

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    Thomas Mailund

    Full Text Available We present a hidden Markov model (HMM for inferring gradual isolation between two populations during speciation, modelled as a time interval with restricted gene flow. The HMM describes the history of adjacent nucleotides in two genomic sequences, such that the nucleotides can be separated by recombination, can migrate between populations, or can coalesce at variable time points, all dependent on the parameters of the model, which are the effective population sizes, splitting times, recombination rate, and migration rate. We show by extensive simulations that the HMM can accurately infer all parameters except the recombination rate, which is biased downwards. Inference is robust to variation in the mutation rate and the recombination rate over the sequence and also robust to unknown phase of genomes unless they are very closely related. We provide a test for whether divergence is gradual or instantaneous, and we apply the model to three key divergence processes in great apes: (a the bonobo and common chimpanzee, (b the eastern and western gorilla, and (c the Sumatran and Bornean orang-utan. We find that the bonobo and chimpanzee appear to have undergone a clear split, whereas the divergence processes of the gorilla and orang-utan species occurred over several hundred thousands years with gene flow stopping quite recently. We also apply the model to the Homo/Pan speciation event and find that the most likely scenario involves an extended period of gene flow during speciation.

  8. The closely related CD103+ dendritic cells (DCs and lymphoid-resident CD8+ DCs differ in their inflammatory functions.

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    Zhijun Jiao

    Full Text Available Migratory CD103+ and lymphoid-resident CD8+ dendritic cells (DCs share many attributes, such as dependence on the same transcription factors, cross-presenting ability and expression of certain surface molecules, such that it has been proposed they belong to a common sub-lineage. The functional diversity of the two DC types is nevertheless incompletely understood. Here we reveal that upon skin infection with herpes simplex virus, migratory CD103+ DCs from draining lymph nodes were more potent at inducing Th17 cytokine production by CD4+ T cells than CD8+ DCs. This superior capacity to drive Th17 responses was also evident in CD103+ DCs from uninfected mice. Their differential potency to induce Th17 differentiation was reflected by higher production of IL-1β and IL-6 by CD103+ DCs compared with CD8+ DCs upon stimulation. The two types of DCs from isolated lymph nodes also differ in expression of certain pattern recognition receptors. Furthermore, elevated levels of GM-CSF, typical of those found in inflammation, substantially increased the pool size of CD103+ DCs in lymph nodes and skin. We argue that varied levels of GM-CSF may explain the contrasting reports regarding the positive role of GM-CSF in regulating development of CD103+ DCs. Together, we find that these two developmentally closely-related DC subsets display functional differences and that GM-CSF has differential effect on the two types of DCs.

  9. Wing pattern morphology of three closely related Melitaea (Lepidoptera, Nymphalidae species reveals highly inaccurate external morphology-based species identification

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    Jure Jugovic


    Full Text Available Wing morphology of the three closely related species of Melitaea – M. athalia (Rottemburg, 1775, M. aurelia (Nickerl, 1850 and M. britomartis Assmann, 1847 – co-occurring in the Balkans (SE Europe was investigated in detail through visual inspection, morphometric analysis and multivariate statistical analysis. Results are compared to recent phylogenetic studies, searching for concordant patterns and discrepancies between the two approaches. The morphology of the genitalic structures is also compared with the results of the other two approaches. The main conclusions are as follows: (1 small albeit significant differences in wing morphology exist among the three species and (2 while the structure of male genitalia and phylogenetic position of the three species are concordant, they are (3 in discordance with the wing morphology. The present study represents another example where identification based on external morphology would lead to highly unreliable determinations, hence identification based on phylogenetic studies and/or genitalia is strongly recommended not only for the three studied species but also more broadly within the genus. Furthermore, we show that some of the characters generally used in the identification of these three Melitaea species should be avoided in future.

  10. Using SSR-HRM to Identify Closely Related Species in Herbal Medicine Products: A Case Study on Licorice. (United States)

    Li, Jingjian; Xiong, Chao; He, Xia; Lu, Zhaocen; Zhang, Xin; Chen, Xiaoyang; Sun, Wei


    Traditional herbal medicines have played important roles in the ways of life of people around the world since ancient times. Despite the advanced medical technology of the modern world, herbal medicines are still used as popular alternatives to synthetic drugs. Due to the increasing demand for herbal medicines, plant species identification has become an important tool to prevent substitution and adulteration. Here we propose a method for biological assessment of the quality of prescribed species in the Chinese Pharmacopoeia by use of high resolution melting (HRM) analysis of microsatellite loci. We tested this method on licorice, a traditional herbal medicine with a long history. Results showed that nine simple sequence repeat (SSR) markers produced distinct melting curve profiles for the five licorice species investigated using HRM analysis. These results were validated by capillary electrophoresis. We applied this protocol to commercially available licorice products, thus enabling the consistent identification of 11 labels with non-declared Glycyrrhiza species. This novel strategy may thus facilitate DNA barcoding as a method of identification of closely related species in herbal medicine products. Based on this study, a brief operating procedure for using the SSR-HRM protocol for herbal authentication is provided.

  11. ATGC: a database of orthologous genes from closely related prokaryotic genomes and a research platform for microevolution of prokaryotes

    Energy Technology Data Exchange (ETDEWEB)

    Novichkov, Pavel S.; Ratnere, Igor; Wolf, Yuri I.; Koonin, Eugene V.; Dubchak, Inna


    The database of Alignable Tight Genomic Clusters (ATGCs) consists of closely related genomes of archaea and bacteria, and is a resource for research into prokaryotic microevolution. Construction of a data set with appropriate characteristics is a major hurdle for this type of studies. With the current rate of genome sequencing, it is difficult to follow the progress of the field and to determine which of the available genome sets meet the requirements of a given research project, in particular, with respect to the minimum and maximum levels of similarity between the included genomes. Additionally, extraction of specific content, such as genomic alignments or families of orthologs, from a selected set of genomes is a complicated and time-consuming process. The database addresses these problems by providing an intuitive and efficient web interface to browse precomputed ATGCs, select appropriate ones and access ATGC-derived data such as multiple alignments of orthologous proteins, matrices of pairwise intergenomic distances based on genome-wide analysis of synonymous and nonsynonymous substitution rates and others. The ATGC database will be regularly updated following new releases of the NCBI RefSeq. The database is hosted by the Genomics Division at Lawrence Berkeley National laboratory and is publicly available at

  12. Age-related changes and sex differences in postural control adaptability in children during periodic floor oscillation with eyes closed. (United States)

    Fujiwara, Katsuo; Kiyota, Takeo; Mammadova, Aida; Yaguchi, Chie


    We investigated age-related changes and sex differences in adaptability of anticipatory postural control in children. Subjects comprised 449 children (4-12 years old) and 109 young adults (18-29 years old). Subjects stood with eyes closed on a force-platform fixed to a floor oscillator. We conducted five trials of 1-minute oscillation (0.5 Hz frequency, 2.5 cm amplitude) in the anteroposterior direction. Postural steadiness was quantified as the mean speed of the center of pressure in the anteroposterior direction (CoPy). In young adults, CoPy speed decreased rapidly until the third trial for both sexes. Adaptability was evaluated by changes in steadiness. The adaptability of children was categorized as "good," "moderate," and "poor," compared with a standard variation of the mean CoPy speed regression line between the first and fifth trials in young adults. Results were as follows: (1) anticipatory postural control adaptability starts to develop from age 6 in boys and 5 in girls, and greatly improves at age 7-8 in boys and 6 in girls; (2) the adaptability of children at age 11-12 (74% of boys and 63% of girls were categorized as "good") has not yet reached the same level as for young adults; (3) the adaptability at age 11-12 for girls is temporarily disturbed due to early puberty.

  13. A double-mutant collection targeting MAP kinase related genes in Arabidopsis for studying genetic interactions. (United States)

    Su, Shih-Heng; Krysan, Patrick J


    Mitogen-activated protein kinase cascades are conserved in all eukaryotes. In Arabidopsis thaliana there are approximately 80 genes encoding MAP kinase kinase kinases (MAP3K), 10 genes encoding MAP kinase kinases (MAP2K), and 20 genes encoding MAP kinases (MAPK). Reverse genetic analysis has failed to reveal abnormal phenotypes for a majority of these genes. One strategy for uncovering gene function when single-mutant lines do not produce an informative phenotype is to perform a systematic genetic interaction screen whereby double-mutants are created from a large library of single-mutant lines. Here we describe a new collection of 275 double-mutant lines derived from a library of single-mutants targeting genes related to MAP kinase signaling. To facilitate this study, we developed a high-throughput double-mutant generating pipeline using a system for growing Arabidopsis seedlings in 96-well plates. A quantitative root growth assay was used to screen for evidence of genetic interactions in this double-mutant collection. Our screen revealed four genetic interactions, all of which caused synthetic enhancement of the root growth defects observed in a MAP kinase 4 (MPK4) single-mutant line. Seeds for this double-mutant collection are publicly available through the Arabidopsis Biological Resource Center. Scientists interested in diverse biological processes can now screen this double-mutant collection under a wide range of growth conditions in order to search for additional genetic interactions that may provide new insights into MAP kinase signaling. © 2016 The Authors The Plant Journal © 2016 John Wiley & Sons Ltd.

  14. Genetics of kidney disease and related cardiometabolic phenotypes in Zuni Indians: The Zuni Kidney Project

    Directory of Open Access Journals (Sweden)

    Sandra L Laston


    Full Text Available The objective of this study is to identify genetic factors associated with chronic kidney disease (CKD and related cardiometabolic phenotypes among participants of the Genetics of Kidney Disease in Zuni Indians study. The study was conducted as a community-based participatory research project in the Zuni Indians, a small endogamous tribe in rural New Mexico. We recruited 998 members from 28 extended multigenerational families, ascertained through probands with CKD who had at least one sibling with CKD. We used the Illumina Infinium Human1M-Duo v3.0 BeadChips to type 1.1 million single nucleotide polymorphisms (SNPs. Prevalence estimates for CKD, hyperuricemia, diabetes and hypertension were 24%, 30%, 17% and 34%, respectively. We found a significant (p<1.58 × 10-7 association for a SNP in a novel gene for serum creatinine (PTPLAD2. We replicated significant associations for genes with serum uric acid (SLC2A9, triglyceride levels (APOA1, BUD13, ZNF259, and total cholesterol (PVRL2. We found novel suggestive associations (p<1.58 × 10-6 for SNPs in genes with systolic (OLFML2B, and diastolic blood pressure (NFIA. We identified a series of genes associated with CKD and related cardiometabolic phenotypes among Zuni Indians, a population with a high prevalence of kidney disease. Illuminating genetic variations that modulate the risk for these disorders may ultimately provide a basis for novel preventive strategies and therapeutic interventions.

  15. Current ethical and legal issues in health-related direct-to-consumer genetic testing. (United States)

    Niemiec, Emilia; Kalokairinou, Louiza; Howard, Heidi Carmen


    A variety of health-related genetic testing is currently advertized directly to consumers. This article provides a timely overview of direct-to-consumer genetic testing (DTC GT) and salient ethical issues, as well as an analysis of the impact of the recently adopted regulation on in vitro diagnostic medical devices on DTC GT. DTC GT companies currently employ new testing approaches, report on a wide spectrum of conditions and target new groups of consumers. Such activities raise ethical issues including the questionable analytic and clinical validity of tests, the adequacy of informed consent, potentially misleading advertizing, testing in children, research uses and commercialization of genomic data. The recently adopted regulation on in vitro diagnostic medical devices may limit the offers of predisposition DTC GT in the EU market.

  16. How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease

    DEFF Research Database (Denmark)

    Nielsen, Ole Haagen; LaCasse, Eric Charles


    infections, such as Epstein-Barr virus (EBV). Children with XIAP-related XLP-2 may present with either familial hemophagocytic lymphohistiocytosis, often triggered in response to EBV infection, or with a treatment-refractory severe pediatric form of inflammatory bowel disease (IBD) that might be diagnosed...... treatment history and patient morbidity/mortality since its original identification in 2006. Since XLP-2 is rare, cases are probably undergiagnosed or misdiagnosed. Consideration of XLP-2 in children with severe symptoms of IBD can prevent serious morbidities and mortality, avoid unnecessary procedures......, and expedite specific targeted therapy.Genet Med advance online publication 14 July 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.82....

  17. The use of genetic algorithms with niching methods in nuclear reactor related problems

    International Nuclear Information System (INIS)

    Sacco, Wagner Figueiredo


    Genetic Algorithms (GAs) are biologically motivated adaptive systems which have been used, with good results, in function optimization. However, traditional GAs rapidly push an artificial population toward convergence. That is, all individuals in the population soon become nearly identical. Niching Methods allow genetic algorithms to maintain a population of diverse individuals. GAs that incorporate these methods are capable of locating multiple, optimal solutions within a single population. The purpose of this study is to test existing niching techniques and two methods introduced herein, bearing in mind their eventual application in nuclear reactor related problems, specially the nuclear reactor core reload one, which has multiple solutions. Tests are performed using widely known test functions and their results show that the new methods are quite promising, specially in real world problems like the nuclear reactor core reload. (author)

  18. Field of Genes: An Investigation of Sports-Related Genetic Testing (United States)

    Wagner, Jennifer K.; Royal, Charmaine D.


    Sports-related genetic testing is a sector of the diverse direct-to-consumer (DTC) industry that has not yet been examined thoroughly by academic scholars. A systematic search was used to identify companies in this sector and content analysis of online information was performed. More than a dozen companies were identified. Marketing practices observed generally did not target parents for child testing, and marketing images were mild compared to images used in popular media. Information was provided at a high reading level (industry-wide Flesh-Kincaid Grade Levels > 11). While ~75% of companies provide privacy policies and terms of service prior to purchase and ~40% provide scientific citations for their tests, e-commerce generally may adequately protect DTC genetics consumers without new federal legislation or regulation. PMID:25562204

  19. Genetics of Age-Related Macular Degeneration: Current Concepts, Future Directions (United States)

    DeAngelis, Margaret M.; Silveira, Alexandra C.; Carr, Elizabeth A.; Kim, Ivana K.


    Age-related macular degeneration (AMD) is a progressive degenerative disease which leads to blindness, affecting the quality of life of millions of Americans. More than 1.75 million individuals in the United States are affected by the advanced form of AMD. The etiological pathway of AMD is not yet fully understood, but there is a clear genetic influence on disease risk. To date, the 1q32 (CFH) and 10q26 (PLEKHA1/ARMS2/HTRA1) loci are the most strongly associated with disease; however, the variation in these genomic regions alone is unable to predict disease development with high accuracy. Therefore, current genetic studies are aimed at identifying new genes associated with AMD and their modifiers, with the goal of discovering diagnostic or prognostic biomarkers. Moreover, these studies provide the foundation for further investigation into the pathophysiology of AMD by utilizing a systems-biology-based approach to elucidate underlying mechanistic pathways. PMID:21609220

  20. Socially related fears following exposure to trauma: environmental and genetic influences. (United States)

    Collimore, Kelsey C; Asmundson, Gordon J G; Taylor, Steven; Jang, Kerry L


    Few studies have examined why socially related fears and posttraumatic stress commonly, but not invariably, co-occur. It may be that only traumata of human agency (e.g., sexual assault), for which there is an interpersonal component, give rise to co-occurring socially related fears. These symptoms might also co-occur because of shared genetic factors. We investigated these issues using a sample of 882 monozygotic and dizygotic twins. No significant differences in socially related fear (i.e., fear of negative evaluation, fear of socially observable arousal symptoms) were found between participants reporting assaultive or nonassaultive trauma. However, significant differences in socially related fear were found when participants were grouped into probable PTSD and no PTSD groups. Participants with probable PTSD exhibited greater socially related fear (i.e., fear of negative evaluation) than those without PTSD. Using biometric structural equation modeling, trauma exposure was best explained by shared and nonshared environmental influences. The fear of socially observable arousal symptoms was influenced by genetic and nonshared environmental influences. Implications and directions for future research are discussed.

  1. Pulmonary phenotypes associated with genetic variation in telomere-related genes. (United States)

    Hoffman, Thijs W; van Moorsel, Coline H M; Borie, Raphael; Crestani, Bruno


    Genomic mutations in telomere-related genes have been recognized as a cause of familial forms of idiopathic pulmonary fibrosis (IPF). However, it has become increasingly clear that telomere syndromes and telomere shortening are associated with various types of pulmonary disease. Additionally, it was found that also single nucleotide polymorphisms (SNPs) in telomere-related genes are risk factors for the development of pulmonary disease. This review focuses on recent updates on pulmonary phenotypes associated with genetic variation in telomere-related genes. Genomic mutations in seven telomere-related genes cause pulmonary disease. Pulmonary phenotypes associated with these mutations range from many forms of pulmonary fibrosis to emphysema and pulmonary vascular disease. Telomere-related mutations account for up to 10% of sporadic IPF, 25% of familial IPF, 10% of connective-tissue disease-associated interstitial lung disease, and 1% of COPD. Mixed disease forms have also been found. Furthermore, SNPs in TERT, TERC, OBFC1, and RTEL1, as well as short telomere length, have been associated with several pulmonary diseases. Treatment of pulmonary disease caused by telomere-related gene variation is currently based on disease diagnosis and not on the underlying cause. Pulmonary phenotypes found in carriers of telomere-related gene mutations and SNPs are primarily pulmonary fibrosis, sometimes emphysema and rarely pulmonary vascular disease. Genotype-phenotype relations are weak, suggesting that environmental factors and genetic background of patients determine disease phenotypes to a large degree. A disease model is presented wherever genomic variation in telomere-related genes cause specific pulmonary disease phenotypes whenever triggered by environmental exposure, comorbidity, or unknown factors.

  2. Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder

    Directory of Open Access Journals (Sweden)

    Mayor-Olea Alvaro


    Full Text Available Abstract Background Temporomandibular disorder (TMD is a multifactorial syndrome related to a critical period of human life. TMD has been associated with psychological dysfunctions, oxidative state and sexual dimorphism with coincidental occurrence along the pubertal development. In this work we study the association between TMD and genetic polymorphisms of folate metabolism, neurotransmission, oxidative and hormonal metabolism. Folate metabolism, which depends on genes variations and diet, is directly involved in genetic and epigenetic variations that can influence the changes of last growing period of development in human and the appearance of the TMD. Methods A case-control study was designed to evaluate the impact of genetic polymorphisms above described on TMD. A total of 229 individuals (69% women were included at the study; 86 were patients with TMD and 143 were healthy control subjects. Subjects underwent to a clinical examination following the guidelines by the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD. Genotyping of 20 Single Nucleotide Polymorphisms (SNPs, divided in two groups, was performed by multiplex minisequencing preceded by multiplex PCR. Other seven genetic polymorphisms different from SNPs (deletions, insertions, tandem repeat, null genotype were achieved by a multiplex-PCR. A chi-square test was performed to determine the differences in genotype and allelic frequencies between TMD patients and healthy subjects. To estimate TMD risk, in those polymorphisms that shown significant differences, odds ratio (OR with a 95% of confidence interval were calculated. Results Six of the polymorphisms showed statistical associations with TMD. Four of them are related to enzymes of folates metabolism: Allele G of Serine Hydoxymethyltransferase 1 (SHMT1 rs1979277 (OR = 3.99; 95%CI 1.72, 9.25; p = 0.002, allele G of SHMT1 rs638416 (OR = 2.80; 95%CI 1.51, 5.21; p = 0.013, allele T of Methylentetrahydrofolate

  3. A study on some welfare-related parameters of hDAF transgenic pigs when compared with their conventional close relatives. (United States)

    Martelli, G; Sardi, L; Stancampiano, L; Govoni, N; Zannoni, A; Nannoni, E; Forni, M; Bacci, M L


    Pigs are increasingly used in medical research as transgenic laboratory animals; however, little knowledge is presently available concerning their welfare assessment. The aim of the present study was to investigate some welfare-related parameters of transgenic pigs intended for xenotrasplantation (human decay-accelerating factor (hDAF)) when compared with their conventional (i.e. not transgenic) close relatives (full sibs and half sibs). A total of 14 Large White female transgenic pigs and 10 female non-transgenic (conventional) pigs from four litters were used. All pigs were from the same conventional boar, donor of the semen treated for sperm-mediated gene transfer. During the experiment, BW ranged from 50 to about 80 kg and pigs were weighed at the beginning and at the end of the experiment. Animals were subjected to a set of behavioural tests: a human approach test (HAT), a novel object test (NOT) and an open-door test (ODT). Food preferences were tested through the offer of different foods (banana, apple, carrot, cracker and lemon). During a 4-day period, pigs were diurnally videotaped to study the prevalence of the different behaviours and social interactions (aggressive and non-aggressive interactions). At the end of the trial, cortisol level had been assessed on bristles. No significant differences (P>0.05) were observed between hDAF transgenic and conventional pigs with respect to growth traits, reactivity towards unexpected situations (HAT, NOT, ODT), food preferences, main behavioural traits, social interactions and hair cortisol.

  4. The changes in various hydroxyproline fractions in aortic tissue of rabbits are closely related to the progression of atherosclerosis

    Directory of Open Access Journals (Sweden)

    Alhomida AS


    Full Text Available Abstract Background The most important function of collagen and elastin is to induce several mechanical parameters which are known to play a dominant role in governing mechanical properties of the blood vessels. The aortic tissue of rabbit is one of the important sources of collagen and elastin. The effects of high fat diet (HFD on the hydroxyproline (Hyp fractions in serum and aortic tissues of rabbits and collagen content in the aortic tissues of rabbits have not been documented before. The present study was undertaken to investigate the changes in Hyp fractions in serum and aortic tissues of rabbits and collagen content in the aortic tissues of rabbits during the progression of atherosclerosis. The atherosclerotic model used in this study was the New Zealand white rabbit (male; 12 weeks old. Twenty five rabbits were individually caged, and divided into control group (NOR; n = 10 and HFD group (CHO; n = 15. The control group was fed (100 g/day of normal (NOR diet for a period of 15 weeks. The HFD group was fed normal diet supplemented with 1.0% cholesterol plus 1.0% olive oil (100 g/day for the same period of time. Results We found that the TC, LDLC, and TG (mg/dl were significantly (p Conclusions These results suggest that percentage decrease in various Hyp fractions in aortic tissue of HFD rabbits are closely related to percentage decrease of collagen content in aortic tissues of HFD rabbits. These results also suggest that it may be possible to use the changes in various Hyp fractions in aortic tissues of rabbits as an important risk factor during the progression of atherosclerosis.

  5. Annickia affinis and A. chlorantha (Enantia chlorantha)--A review of two closely related medicinal plants from tropical Africa. (United States)

    Olivier, D K; Van Vuuren, S F; Moteetee, A N


    Annickia affinis (Exell) Versteegh & Sosef, closely related to A. chlorantha Setten & P.J.Maas (both species also referred to as Enantia chlorantha Oliv.), from the Annonaceae family, are multi-purpose medicinal plants used widely across tropical Africa. The two Annickia species are morphologically distinct from each other and have different distribution patterns, but are frequently confused. Furthermore, the name Enantia chlorantha is an illegitimate name, but is still used today. A review of the literature was undertaken and an in-depth analysis of previous research and future prospectives are considered. While a myriad of publications cite the species "Enantia chlorantha", this is not the case for A. affinis and A. chlorantha, and no reviews are available for any of the species to date. Consequently, a summary of their ethnobotany, phytochemistry and biological properties is presented here (for the period 1933 - November 2014) in order to substantiate their traditional importance as medicines for rural people in Africa. To this effect, these species seem to be the preferred traditional treatments for malaria in tropical Africa, an area suffering heavily under the malaria pandemic. Their chemical composition is dominated particularly by various isoquinoline alkaloids, as well as by acetogenins and sesquiterpenes, which have been isolated from the bark and leaves. All three of these classes of compounds have been reported to exhibit noteworthy biological activity. Due to their widespread use, especially of the bark, these species have already been categorized as threatened with extinction. Consequently this study further aims to identify areas where more research needs to be conducted involving these important species, and also to suggest possible means of increasing the biological activities of their extracts as a way to conserve the species. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  6. Choose Your Weaponry: Selective Storage of a Single Toxic Compound, Latrunculin A, by Closely Related Nudibranch Molluscs.

    Directory of Open Access Journals (Sweden)

    Karen L Cheney

    Full Text Available Natural products play an invaluable role as a starting point in the drug discovery process, and plants and animals use many interesting biologically active natural products as a chemical defense mechanism against predators. Among marine organisms, many nudibranch gastropods are known to derive defensive metabolites from the sponges they eat. Here we investigated the putative sequestration of the toxic compound latrunculin A--a 16-membered macrolide that prevents actin polymerization within cellular processes--which has been identified from sponge sources, by five closely related nudibranch molluscs of the genus Chromodoris. Only latrunculin A was present in the rim of the mantle of these species, where storage reservoirs containing secondary metabolites are located, whilst a variety of secondary metabolites were found in their viscera. The species studied thus selectively accumulate latrunculin A in the part of the mantle that is more exposed to potential predators. This study also demonstrates that latrunculin-containing sponges are not their sole food source. Latrunculin A was found to be several times more potent than other compounds present in these species of nudibranchs when tested by in vitro and in vivo toxicity assays. Anti-feedant assays also indicated that latrunculin A was unpalatable to rock pool shrimps, in a dose-dependent manner. These findings led us to propose that this group of nudibranchs has evolved means both to protect themselves from the toxicity of latrunculin A, and to accumulate this compound in the mantle rim for defensive purposes. The precise mechanism by which the nudibranchs sequester such a potent compound from sponges without disrupting their own key physiological processes is unclear, but this work paves the way for future studies in this direction. Finally, the possible occurrence of both visual and chemosensory Müllerian mimicry in the studied species is discussed.

  7. Degradation of formaldehyde at high concentrations by phenol-adapted Ralstonia eutropha closely related to pink-pigmented facultative methylotrophs. (United States)

    Habibi, Alireza; Vahabzadeh, Farzaneh


    The ability of the phenol-adapted Ralstonia eutropha to utilize formaldehyde (FD) as the sole source of carbon and energy was studied. Adaptation to FD was accomplished by substituting FD for glucose in a stepwise manner. The bacterium in the liquid test culture could tolerate concentrations of FD up to 900 mg L(-1). Degradation of FD was complete in 528 h at 30°C with shaking at 150 rpm (r = 1.67 mg L(-1) h(-1)), q = 0.035 g(FD) g(cell) (-1) h(-1). Substrate inhibition kinetics (Haldane and Luong equations) are used to describe the experimental data. At non-inhibitory concentrations of FD, the Monod equation was used. According to the Luong model, the values of the maximum specific growth rate (μ(max)), half-saturation coefficient (k(S)), the maximum allowable formaldehyde concentration (S(m)), and the shape factor (n) were 0.117 h(-1), 47.6 mg L(-1), 900 mg L(-1), and 2.2, respectively. The growth response of the test bacterium to consecutive FD feedings was examined, and the FD-adapted R. eutropha cells were able to degrade 1000 mg L(-1) FD in 150 h through 4 cycles of FD feeds. During FD degradation, formic acid metabolite was formed. Assimilation of FD, methanol, formic acid, and oxalate by the test bacterium was accompanied by the formation of a pink pigment. The carotenoid nature of the cellular pigment has been confirmed and the test bacterium appeared to be closely related to pink-pigmented facultative methylotrophs (PPFM). The extent of harm to soil exposed to biotreated wastewaters containing FD may be moderated due to the association between methylotrophic/oxalotrophic bacteria and plants.

  8. Mycobacterium saopaulense sp. nov., a rapidly growing mycobacterium closely related to members of the Mycobacterium chelonae--Mycobacterium abscessus group. (United States)

    Nogueira, Christiane Lourenço; Whipps, Christopher M; Matsumoto, Cristianne Kayoko; Chimara, Erica; Droz, Sara; Tortoli, Enrico; de Freitas, Denise; Cnockaert, Margo; Palomino, Juan Carlos; Martin, Anandi; Vandamme, Peter; Leão, Sylvia Cardoso


    Five isolates of non-pigmented, rapidly growing mycobacteria were isolated from three patients and,in an earlier study, from zebrafish. Phenotypic and molecular tests confirmed that these isolates belong to the Mycobacterium chelonae-Mycobacterium abscessus group, but they could not be confidently assigned to any known species of this group. Phenotypic analysis and biochemical tests were not helpful for distinguishing these isolates from other members of the M. chelonae–M.abscessus group. The isolates presented higher drug resistance in comparison with other members of the group, showing susceptibility only to clarithromycin. The five isolates showed a unique PCR restriction analysis pattern of the hsp65 gene, 100 % similarity in 16S rRNA gene and hsp65 sequences and 1-2 nt differences in rpoB and internal transcribed spacer (ITS) sequences.Phylogenetic analysis of a concatenated dataset including 16S rRNA gene, hsp65, and rpoB sequences from type strains of more closely related species placed the five isolates together, as a distinct lineage from previously described species, suggesting a sister relationship to a group consisting of M. chelonae, Mycobacterium salmoniphilum, Mycobacterium franklinii and Mycobacterium immunogenum. DNA–DNA hybridization values .70 % confirmed that the five isolates belong to the same species, while values ,70 % between one of the isolates and the type strains of M. chelonae and M. abscessus confirmed that the isolates belong to a distinct species. The polyphasic characterization of these isolates, supported by DNA–DNA hybridization results,demonstrated that they share characteristics with M. chelonae–M. abscessus members, butconstitute a different species, for which the name Mycobacterium saopaulense sp. nov. is proposed. The type strain is EPM10906T (5CCUG 66554T5LMG 28586T5INCQS 0733T).

  9. Parallel habitat acclimatization is realized by the expression of different genes in two closely related salamander species (genus Salamandra). (United States)

    Goedbloed, D J; Czypionka, T; Altmüller, J; Rodriguez, A; Küpfer, E; Segev, O; Blaustein, L; Templeton, A R; Nolte, A W; Steinfartz, S


    The utilization of similar habitats by different species provides an ideal opportunity to identify genes underlying adaptation and acclimatization. Here, we analysed the gene expression of two closely related salamander species: Salamandra salamandra in Central Europe and Salamandra infraimmaculata in the Near East. These species inhabit similar habitat types: 'temporary ponds' and 'permanent streams' during larval development. We developed two species-specific gene expression microarrays, each targeting over 12 000 transcripts, including an overlapping subset of 8331 orthologues. Gene expression was examined for systematic differences between temporary ponds and permanent streams in larvae from both salamander species to establish gene sets and functions associated with these two habitat types. Only 20 orthologues were associated with a habitat in both species, but these orthologues did not show parallel expression patterns across species more than expected by chance. Functional annotation of a set of 106 genes with the highest effect size for a habitat suggested four putative gene function categories associated with a habitat in both species: cell proliferation, neural development, oxygen responses and muscle capacity. Among these high effect size genes was a single orthologue (14-3-3 protein zeta/YWHAZ) that was downregulated in temporary ponds in both species. The emergence of four gene function categories combined with a lack of parallel expression of orthologues (except 14-3-3 protein zeta) suggests that parallel habitat adaptation or acclimatization by larvae from S. salamandra and S. infraimmaculata to temporary ponds and permanent streams is mainly realized by different genes with a converging functionality.

  10. Evidence that hippocampal-parahippocampal dysfunction is related to genetic risk for schizophrenia. (United States)

    Di Giorgio, A; Gelao, B; Caforio, G; Romano, R; Andriola, I; D'Ambrosio, E; Papazacharias, A; Elifani, F; Bianco, L Lo; Taurisano, P; Fazio, L; Popolizio, T; Blasi, G; Bertolino, A


    Abnormalities in hippocampal-parahippocampal (H-PH) function are prominent features of schizophrenia and have been associated with deficits in episodic memory. However, it remains unclear whether these abnormalities represent a phenotype related to genetic risk for schizophrenia or whether they are related to disease state. We investigated H-PH-mediated behavior and physiology, using blood oxygenation level-dependent functional magnetic resonance imaging (BOLD fMRI), during episodic memory in a sample of patients with schizophrenia, clinically unaffected siblings and healthy subjects. Patients with schizophrenia and unaffected siblings displayed abnormalities in episodic memory performance. During an fMRI memory encoding task, both patients and siblings demonstrated a similar pattern of reduced H-PH engagement compared with healthy subjects. Our findings suggest that the pathophysiological mechanism underlying the inability of patients with schizophrenia to properly engage the H-PH during episodic memory is related to genetic risk for the disorder. Therefore, H-PH dysfunction can be assumed as a schizophrenia susceptibility-related phenotype.

  11. Uniform Variation in Genetic-Traits of a Marine Bivalve Related to Starvation, Pollution and Geographic Clines

    NARCIS (Netherlands)

    Hummel, H.; Bogaards, R.H.; Amiard-Triquet, C.; Bachelet, G.; Desprez, M.; Marchand, J.; Rybarczyk, H.; Sylvand, B.; De Wit, Y.; De Wolf, L.


    Consistent patterns of genetic variation in the marine bivalve Macoma balthica (L.) were found after exposure to low levels of copper, starvation, and along geographic dines. The geographic dines were related to temperature and salinity. Genetic differences were primarily found in the LAP (Leucine

  12. Genetic insights into age-related macular degeneration: Controversies addressing Risk, Causality, and Therapeutics (United States)

    Gorin, Michael B.


    Age-related macular degeneration (AMD) is a common condition among the elderly population that leads to the progressive central vision loss and serious compromise of quality of life for its sufferers. It is also one of the few disorders for whom the investigation of its genetics has yielded rich insights into its diversity and causality and holds the promise of enabling clinicians to provide better risk assessments for individuals as well as to develop and selectively deploy new therapeutics to either prevent or slow the development of disease and lessen the threat of vision loss. The genetics of AMD began initially with the appreciation of familial aggregation and increase risk and expanded with the initial association of APOE variants with the disease. The first major breakthroughs came with family-based linkage studies of affected (and discordant) sibs, which identified a number of genetic loci and led to the targeted search of the 1q31 and 10q26 loci for associated variants. Three of the initial four reports for the CFH variant, Y402H, were based on regional candidate searches, as were the two initial reports of the ARMS2/HTRA1 locus variants. Case-control association studies initially also played a role in discovering the major genetic variants for AMD, and the success of those early studies have been used to fuel enthusiasm for the methodology for a number of diseases. Until 2010, all of the subsequent genetic variants associated with AMD came from candidate gene testing based on the complement factor pathway. In 2010, several large-scale genome-wide association studies (GWAS) identified genes that had not been previously identified. Much of this historical information is available in a number of recent reviews.(Chen et al., 2010b; Deangelis et al., 2011; Fafowora and Gorin, 2012b; Francis and Klein, 2011; Kokotas et al., 2011) Large meta analysis of AMD GWAS has added new loci and variants to this collection.(Chen et al., 2010a; Kopplin et al., 2010; Yu et

  13. Selection on Optimal Haploid Value Increases Genetic Gain and Preserves More Genetic Diversity Relative to Genomic Selection. (United States)

    Daetwyler, Hans D; Hayden, Matthew J; Spangenberg, German C; Hayes, Ben J


    Doubled haploids are routinely created and phenotypically selected in plant breeding programs to accelerate the breeding cycle. Genomic selection, which makes use of both phenotypes and genotypes, has been shown to further improve genetic gain through prediction of performance before or without phenotypic characterization of novel germplasm. Additional opportunities exist to combine genomic prediction methods with the creation of doubled haploids. Here we propose an extension to genomic selection, optimal haploid value (OHV) selection, which predicts the best doubled haploid that can be produced from a segregating plant. This method focuses selection on the haplotype and optimizes the breeding program toward its end goal of generating an elite fixed line. We rigorously tested OHV selection breeding programs, using computer simulation, and show that it results in up to 0.6 standard deviations more genetic gain than genomic selection. At the same time, OHV selection preserved a substantially greater amount of genetic diversity in the population than genomic selection, which is important to achieve long-term genetic gain in breeding populations. Copyright © 2015 by the Genetics Society of America.

  14. The genetics of age-related macular degeneration (AMD)--Novel targets for designing treatment options? (United States)

    Grassmann, Felix; Fauser, Sascha; Weber, Bernhard H F


    Age-related macular degeneration (AMD) is a progressive disease of the central retina and the main cause of legal blindness in industrialized countries. Risk to develop the disease is conferred by both individual as well as genetic factors with the latter being increasingly deciphered over the last decade. Therapeutically, striking advances have been made for the treatment of the neovascular form of late stage AMD while for the late stage atrophic form of the disease, which accounts for almost half of the visually impaired, there is currently no effective therapy on the market. This review highlights our current knowledge on the genetic architecture of early and late stage AMD and explores its potential for the discovery of novel, target-guided treatment options. We reflect on current clinical and experimental therapies for all forms of AMD and specifically note a persisting lack of efficacy for treatment in atrophic AMD. We further explore the current insight in AMD-associated genes and pathways and critically question whether this knowledge is suited to design novel treatment options. Specifically, we point out that known genetic factors associated with AMD govern the risk to develop disease and thus may not play a role in its severity or progression. Treatments based on such knowledge appear appropriate rather for prevention than treatment of manifest disease. As a consequence, future research in AMD needs to be greatly focused on approaches relevant to the patients and their medical needs. Copyright © 2015 Elsevier B.V. All rights reserved.

  15. Genetics of Unilateral and Bilateral Age-Related Macular Degeneration Severity Stages. (United States)

    Schick, Tina; Altay, Lebriz; Viehweger, Eva; Hoyng, Carel B; den Hollander, Anneke I; Felsch, Moritz; Fauser, Sascha


    Age-related macular degeneration (AMD) is a common disease causing visual impairment and blindness. Various gene variants are strongly associated with late stage AMD, but little is known about the genetics of early forms of the disease. This study evaluated associations of genetic factors and different AMD stages depending on unilateral and bilateral disease severity. In this case-control study, participants were assigned to nine AMD severity stages based on the characteristics of each eye. 18 single nucleotide polymorphisms (SNPs) were genotyped and attempted to correlate with AMD severity stages by uni- and multivariate logistic regression analyses and trend analyses. Area under the receiver operating characteristic curves (AUC) were calculated. Of 3444 individuals 1673 were controls, 379 had early AMD, 333 had intermediate AMD and 989 showed late AMD stages. With increasing severity of disease and bilateralism more SNPs with significant associations were found. Odds ratios, especially for the main risk polymorphisms in ARMS2 (rs10490924) and CFH (rs1061170), gained with increasing disease severity and bilateralism (exemplarily: rs1061170: unilateral early AMD: OR = 1.18; bilateral early AMD: OR = 1.20; unilateral intermediate AMD: OR = 1.28; bilateral intermediate AMD: OR = 1.39, unilateral geographic atrophy (GA): OR = 1.50; bilateral GA: OR = 1.71). Trend analyses showed pstages was lowest for unilateral early AMD (AUC = 0.629) and showed higher values in more severely and bilaterally affected individuals being highest for late AMD with GA in one eye and neovascular AMD in the other eye (AUC = 0.957). The association of known genetic risk factors with AMD became stronger with increasing disease severity, which also led to an increasing discriminative ability of AMD cases and controls. Genetic predisposition was also associated with the disease severity of the fellow-eye, highlighting the importance of both eyes in AMD patients.

  16. Evaluation of Oxidative Stress Response Related Genetic Variants, Pro-oxidants, Antioxidants and Prostate Cancer

    Directory of Open Access Journals (Sweden)

    Nicole Lavender


    Full Text Available Background: Oxidative stress and detoxification mechanisms have been commonly studied in Prostate Cancer (PCa due to their function in the detoxification of potentially damaging reactive oxygen species (ROS and carcinogens. However, findings have been either inconsistent or inconclusive. These mixed findings may, in part, relate to failure to consider interactions among oxidative stress response related genetic variants along with pro- and antioxidant factors. Methods: We examined the effects of 33 genetic and 26 environmental oxidative stress and defense factors on PCa risk and disease aggressiveness among 2,286 men from the Cancer Genetic Markers of Susceptibility project (1,175 cases, 1,111 controls. Single and joint effects were analyzed using a comprehensive statistical approach involving logistic regression, multi-dimensionality reduction, and entropy graphs. Results: Inheritance of one CYP2C8 rs7909236 T or two SOD2 rs2758331 A alleles was linked to a 1.3- and 1.4-fold increase in risk of developing PCa, respectively (p-value = 0.006-0.013. Carriers of CYP1B1 rs1800440GG, CYP2C8 rs1058932TC and, NAT2 (rs1208GG, rs1390358CC, rs7832071TT genotypes were associated with a 1.3 to 2.2-fold increase in aggressive PCa [p-value = 0.04-0.001, FDR 0.088-0.939]. We observed a 23% reduction in aggressive disease linked to inheritance of one or more NAT2 rs4646247 A alleles (p = 0.04, FDR = 0.405. Only three NAT2 sequence variants remained significant after adjusting for multiple hypotheses testing, namely NAT2 rs1208, rs1390358, and rs7832071. Lastly, there were no significant gene-environment or gene-gene interactions associated with PCa outcomes. Conclusions: Variations in genes involved in oxidative stress and defense pathways may modify PCa. Our findings do not firmly support the role of oxidative stress genetic variants combined with lifestyle/environmental factors as modifiers of PCa and disease progression. However, additional multi

  17. Attitudes toward genetic testing among the general population and relatives of patients with a severe genetic disease

    DEFF Research Database (Denmark)

    Hietala, M; Hakonen, A; Aro, A R


    evaluated attitudes toward gene tests in general and also respondents' preparedness to undergo gene tests for predictive testing, carrier detection, prenatal diagnosis, and selective abortion, in theoretical situations. The results of the study indicate that both the Finnish population in general and family...... members of AGU patients have a favorable attitude toward genetic testing. However, a commonly expressed reason against testing was that test results might lead to discrimination in employment or insurance policies. Based on the responses, we predict that future genetic testing programs will most probably...

  18. The complete mitochondrial genome of Strongylus equinus (Chromadorea: Strongylidae): Comparison with other closely related species and phylogenetic analyses. (United States)

    Xu, Wen-Wen; Qiu, Jian-Hua; Liu, Guo-Hua; Zhang, Yan; Liu, Ze-Xuan; Duan, Hong; Yue, Dong-Mei; Chang, Qiao-Cheng; Wang, Chun-Ren; Zhao, Xing-Cun


    The roundworms of genus Strongylus are the common parasitic nematodes in the large intestine of equine, causing significant economic losses to the livestock industries. In spite of its importance, the genetic data and epidemiology of this parasite are not entirely understood. In the present study, the complete S. equinus mitochondrial (mt) genome was determined. The length of S. equinus mt genome DNA sequence is 14,545 bp, containing 36 genes, of which 12 code for protein, 22 for transfer RNA, and two for ribosomal RNA, but lacks atp8 gene. All 36 genes are encoded in the same direction which is consistent with all other Chromadorea nematode mtDNAs published to date. Phylogenetic analysis based on concatenated amino acid sequence data of all 12 protein-coding genes showed that there were two large branches in the Strongyloidea nematodes, and S. equinus is genetically closer to S. vulgaris than to Cylicocyclus insignis in Strongylidae. This new mt genome provides a source of genetic markers for the molecular phylogeny and population genetics of equine strongyles. Copyright © 2015 Elsevier Inc. All rights reserved.

  19. Next-Generation Sequencing Reveals the Impact of Repetitive DNA Across Phylogenetically Closely Related Genomes of Orobanchaceae

    Czech Academy of Sciences Publication Activity Database

    Piednoël, M.; Aberer, A.J.; Schneeweiss, G. M.; Macas, Jiří; Novák, Petr; Gundlach, H.; Temsch, E.M.; Renner, S.S.


    Roč. 29, č. 11 (2012), s. 3601-3611 ISSN 0737-4038 Institutional research plan: CEZ:AV0Z50510513 Institutional support: RVO:60077344 Keywords : next-generation sequencing * polyploidy * genome size * Ty3/Gypsy * transposable elements Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 10.353, year: 2012

  20. Differences in HIV Type 1 RNA Plasma Load Profile of Closely Related Cocirculating Ethiopian Subtype C Strains: C and C '

    NARCIS (Netherlands)

    Ayele, Workenesh; Mekonnen, Yared; Messele, Tsehaynesh; Mengistu, Yohannes; Tsegaye, Aster; Bakker, Margreet; Berkhout, Ben; Dorigo-Zetsma, Wendelien; Wolday, Dawit; Goudsmit, Jaap; Coutinho, Roel; de Baar, Michel; Paxton, William A.; Pollakis, Georgios


    Two HIV-1 subtype C subclusters have been identified in Ethiopia (C and C') with little knowledge regarding their biological or clinical differences. We longitudinally monitored HIV-1 viral loads and CD4(+) T cell counts for 130 subtype C-infected individuals from Ethiopia over 5 years. The genetic

  1. Detection and genetic characterization of a novel parvovirus distantly related to human bufavirus in domestic pigs. (United States)

    Hargitai, Renáta; Pankovics, Péter; Kertész, Attila Mihály; Bíró, Hunor; Boros, Ákos; Phan, Tung Gia; Delwart, Eric; Reuter, Gábor


    In this study, a novel parvovirus (strain swine/Zsana3/2013/HUN, KT965075) was detected in domestic pigs and genetically characterized by viral metagenomics and PCR methods. The novel parvovirus was distantly related to the human bufaviruses and was detected in 19 (90.5 %) of the 21 and five (33.3 %) of the 15 faecal samples collected from animals with and without cases of posterior paraplegia of unknown etiology from five affected farms and one control farm in Hungary, respectively. Swine/Zsana3/2013/HUN is highly prevalent in domestic pigs and potentially represents a novel parvovirus species in the subfamily Parvovirinae.

  2. Genetic analysis of relative traits for a drought-sensitive mutant

    International Nuclear Information System (INIS)

    Gao Kangning; Wang Huaqi


    A drought-sensitive mutant (M616), selected from Handao 616 (HD616) by 60 Co γ-irradiation at 200Gy, was used. Some morphological and yield related traits of M166 and HD616 related to drought resistance were investigated. We further developed F 1 and F 2 reciprocal hybrid combinations derived from the crosses between M616 and HD616, between M616 and IRAT109, respectively, and genetic analysis of 3 traits including plant height, culm width of main stem and seed setting rate on main panicle were camed out. The results showed that M616 showed obviously sensitive to drought stress. Analysis of variance for three traits in upland and paddy between F 1 reciprocal hybrid combinations showed that each trait had no significant difference, and indicated that there were no differences of cytoplasmic hereditary effect. In addition, 3 traits of F 2 populations, were found that the frequency distributions of culm width showed normal distribution, indicating that culm width was polygenic trait, and the frequency distribution of plant height and seed setting rate did not show normal distribution, indicating that the two traits were qualitative-quantitative traits. Genetic analysis of relative traits for a drought-sensitive mutant of upland rice was a basic work for the gene location and cloning. (authors)

  3. Oxytocin receptor genetic variation relates to empathy and stress reactivity in humans. (United States)

    Rodrigues, Sarina M; Saslow, Laura R; Garcia, Natalia; John, Oliver P; Keltner, Dacher


    Oxytocin, a peptide that functions as both a hormone and neurotransmitter, has broad influences on social and emotional processing throughout the body and the brain. In this study, we tested how a polymorphism (rs53576) of the oxytocin receptor relates to two key social processes related to oxytocin: empathy and stress reactivity. Compared with individuals homozygous for the G allele of rs53576 (GG), individuals with one or two copies of the A allele (AG/AA) exhibited lower behavioral and dispositional empathy, as measured by the "Reading the Mind in the Eyes" Test and an other-oriented empathy scale. Furthermore, AA/AG individuals displayed higher physiological and dispositional stress reactivity than GG individuals, as determined by heart rate response during a startle anticipation task and an affective reactivity scale. Our results provide evidence of how a naturally occurring genetic variation of the oxytocin receptor relates to both empathy and stress profiles.

  4. Mental quality of life is related to a cytokine genetic pathway.

    Directory of Open Access Journals (Sweden)

    Dounya Schoormans

    Full Text Available BACKGROUND: Quality of life (QoL in patients with chronic disease is impaired and cannot be solely explained by disease severity. We explored whether genetic variability and activity contributes to QoL in patients with Marfan syndrome (MFS, a genetic connective tissue disorder. METHODOLOGY/PRINCIPAL FINDINGS: In 121 MFS patients, patient characteristics (i.e. demographics and MFS-related symptoms were assessed. Patients completed the SF-36 to measure QoL. In addition, transcriptome wide gene expression and 484 Single Nucleotide Polymorphysms (SNPs in cytokine genes were available. QoL was first analyzed and associated with patient characteristics. Patients' physical QoL was impaired and weakly related with age and scoliosis, whereas mental quality of life (MCS was normal. To explain a largely lacking correlation between disease severity and QoL, we related genome wide gene expression to QoL. Patients with lower MCS scores had high expression levels of CXCL9 and CXCL11 cytokine-related genes (p=0.001; p=0.002; similarly, patients with low vitality scores had high expression levels of CXCL9, CXCL11 and IFNA6 cytokine-related genes (p=0.02; p=0.02; p=0.04, independent of patient characteristics. Subsequently, we associated cytokine related SNPs to mental QoL (MCS and vitality. SNP-cluster in the IL4R gene showed a weak association with MCS and vitality (strongest association p=0.0017. Although overall mental QoL was normal, >10% of patients had low scores for MCS and vitality. Post-hoc analysis of systemic inflammatory mediators showed that patients with lowest MCS and vitality scores had high levels of CCL11 cytokine (p=0.03; p=0.04. CONCLUSIONS/SIGNIFICANCE: Variation in the cytokine genetic pathway and its activation is related to mental QoL. These findings might allow us to identify and, ultimately, treat patients susceptible to poor QoL.

  5. Relation between premorbid adjustment, duration of untreated psychosis and close interpersonal trauma in first-episode psychosis

    DEFF Research Database (Denmark)

    Haahr, Ulrik Helt; Larsen, Tor Ketil; Simonsen, Erik


    Trauma Survey at their 5 years follow-up interview. RESULTS: Half of the patients reported that they had experienced interpersonal trauma and one-third reported having experienced close interpersonal trauma before the age of 18. Women reported more sexual abuse, physical attacks and emotional...... different types of trauma, in particular close interpersonal traumas experienced before the age of 18, premorbid factors and baseline clinical characteristics in a sample of first-episode psychosis patients. METHODS: A total of 191 patients from the 'TIPS' cohort completed assessment with the Brief Betrayal...... and physical maltreatment than men. There were significant associations between early interpersonal trauma and premorbid adjustment and duration of untreated psychosis, but no significant associations with length of education, comorbid substance use or baseline clinical symptomatology. CONCLUSIONS: Close...

  6. Health-related direct-to-consumer genetic tests: a public health assessment and analysis of practices related to Internet-based tests for risk of thrombosis. (United States)

    Goddard, K A B; Robitaille, J; Dowling, N F; Parrado, A R; Fishman, J; Bradley, L A; Moore, C A; Khoury, M J


    Recent years have seen increased concern about direct-to-consumer (DTC) genetic testing (i.e., the sale and use of genetic tests without involving a health care provider). Numerous professional organizations have developed policies in this area. However, little systematic evidence exists to inform public policy about these tests. We conducted a systematic search to identify genetic tests that are sold DTC without involving a health care provider. We evaluated the practices of companies offering DTC genetic tests for risk of thrombosis using criteria from multiple sources and a minimal set of key practices. We identified 84 instances of currently available health-related DTC genetic tests sold on 27 Web sites; the most common were for pharmacogenomics (12), risk of thrombosis (10), and nutrigenomics (10). For the DTC genetic tests for risk of thrombosis, we found low adherence to recommendations. Online information was frequently incomplete and had low agreement with professional recommendations. Our findings document the rapid growth in the availability of health-related DTC genetic tests and highlight the need to improve the delivery of DTC genetic tests. A major implication of this study is the need for the scientific and medical community to develop consistent recommendations to increase their impact. Copyright 2008 S. Karger AG, Basel.

  7. Risk of colorectal adenomas in relation to meat consumption, meat preparation, and genetic susceptibility in a Dutch population

    NARCIS (Netherlands)

    Tiemersma, E.W.; Voskuil, D.W.; Bunschoten, A.; Kok, F.J.; Kampman, E.


    Objective: We studied the association between meat consumption and colorectal adenomas, and potential influence of genetic susceptibility to heterocyclic aromatic amines (HCAs) formed during meat cooking at high temperatures. Methods: We studied HCA concentration in relation to preparation habits


    Directory of Open Access Journals (Sweden)

    Nur Kholilatul Izzah


    Full Text Available Development of Expressed Sequence Tag-Simple Sequence Repeat (EST-SSR markers derived from public database is known to be more efficient, faster and low cost. The objective of this study was to generate a new set of EST-SSR markers for broccoli and its related species and their usefulness for assessing their genetic diversity. A total of 202 Brassica oleracea ESTs were retrieved from NCBI and then assembled into 172 unigenes by means of CAP3 program. Identification of SSRs was carried out using web-based tool, RepeatMasker software. Afterwards, EST-SSR markers were developed using Primer3 program. Among the identified SSRs, trinucleotide repeats were the most common repeat types, which accounted for about 50%. A total of eight primer pairs were successfully designed and yielded amplification products. Among them, five markers were polymorphic and displayed a total of 30 alleles with an average number of six alleles per locus. The polymorphic markers were subsequently used for analyzing genetic diversity of 36 B. oleracea cultivars including 22 broccoli, five cauliflower and nine kohlrabi cultivars based on genetic similarity matrix as implemented in NTSYS program. At similarity coefficient of 61%, a UPGMA clustering dendrogram effectively separated 36 genotypes into three main groups, where 30 out of 36 genotypes were clearly discriminated. The result obtained in the present study would help breeders in selecting parental lines for crossing. Moreover, the novel EST-SSR markers developed in the study could be a valuable tool for differentiating cultivars of broccoli and related species.

  9. Unified method to integrate and blend several, potentially related, sources of information for genetic evaluation. (United States)

    Vandenplas, Jérémie; Colinet, Frederic G; Gengler, Nicolas


    A condition to predict unbiased estimated breeding values by best linear unbiased prediction is to use simultaneously all available data. However, this condition is not often fully met. For example, in dairy cattle, internal (i.e. local) populations lead to evaluations based only on internal records while widely used foreign sires have been selected using internally unavailable external records. In such cases, internal genetic evaluations may be less accurate and biased. Because external records are unavailable, methods were developed to combine external information that summarizes these records, i.e. external estimated breeding values and associated reliabilities, with internal records to improve accuracy of internal genetic evaluations. Two issues of these methods concern double-counting of contributions due to relationships and due to records. These issues could be worse if external information came from several evaluations, at least partially based on the same records, and combined into a single internal evaluation. Based on a Bayesian approach, the aim of this research was to develop a unified method to integrate and blend simultaneously several sources of information into an internal genetic evaluation by avoiding double-counting of contributions due to relationships and due to records. This research resulted in equations that integrate and blend simultaneously several sources of information and avoid double-counting of contributions due to relationships and due to records. The performance of the developed equations was evaluated using simulated and real datasets. The results showed that the developed equations integrated and blended several sources of information well into a genetic evaluation. The developed equations also avoided double-counting of contributions due to relationships and due to records. Furthermore, because all available external sources of information were correctly propagated, relatives of external animals benefited from the integrated

  10. Interaction between genetic predisposition to obesity and dietary calcium in relation to subsequent change in body weight and waist circumference

    DEFF Research Database (Denmark)

    Larsen, Sofus C; Angquist, Lars; Ahluwalia, Tarun Veer Singh


    Studies indicate an effect of dietary calcium on change in body weight (BW) and waist circumference (WC), but the results are inconsistent. Furthermore, a relation could depend on genetic predisposition to obesity.......Studies indicate an effect of dietary calcium on change in body weight (BW) and waist circumference (WC), but the results are inconsistent. Furthermore, a relation could depend on genetic predisposition to obesity....

  11. Actor-Observer Bias in Close Relationships: The Role of Self-Knowledge and Self-Related Language. (United States)

    Fiedler, Klaus; And Others


    Studied attributional biases in close relationships. Found that partner attributions prevail at the abstract level of adjectives, whereas self-attributions resided at the concrete level of action verbs. Findings underscore language's importance in attributional biases and reveal how people talk in less abstract terms about the self than about…

  12. Genetic and non-iodine-related factors in the aetiology of nodular goitre. (United States)

    Knudsen, Nils; Brix, Thomas Heiberg


    Genetic and a large number of environmental non-iodine-related factors play a role in the cause of nodular goitre. Most evidence for the influence of genetic and environmental factors in the cause of goitre is from cross-sectional, population-based studies. Only a few studies have included prospective data on risk factors for nodular goitre, although few prospective data are available on the effect of iodine and tobacco smoking on goitre development. Goitre is not one single phenotype. Many epidemiological studies do not distinguish diffuse from nodular goitre, as the investigated parameter is often thyroid volume or frequency with increased thyroid volume. Moreover, information on the presence and effect of gene-environment, gene-gene, and environment-environment effect modifications is limited. Thus, firm conclusions about the relative contributions and causality of the investigated risk factors should be made with caution. Smoking seems to be an established risk factor for nodular goitre, possibly with effect modification from iodine intake, as the risk associated with smoking is smaller or absent in areas with sufficient iodine intake. The use of oral contraceptives might have protective effects against goitre, and childbirth is an increased risk factor for goitre in areas with non-optimal iodine intake. Insulin resistance is a recently investigated risk factor, and the risk of goitre may be reversible with metformin treatment. Iodine remains the major environmental risk factor for nodular goitre. Copyright © 2014 Elsevier Ltd. All rights reserved.

  13. Trial latencies estimation of event-related potentials in EEG by means of genetic algorithms (United States)

    Da Pelo, P.; De Tommaso, M.; Monaco, A.; Stramaglia, S.; Bellotti, R.; Tangaro, S.


    Objective. Event-related potentials (ERPs) are usually obtained by averaging thus neglecting the trial-to-trial latency variability in cognitive electroencephalography (EEG) responses. As a consequence the shape and the peak amplitude of the averaged ERP are smeared and reduced, respectively, when the single-trial latencies show a relevant variability. To date, the majority of the methodologies for single-trial latencies inference are iterative schemes providing suboptimal solutions, the most commonly used being the Woody’s algorithm. Approach. In this study, a global approach is developed by introducing a fitness function whose global maximum corresponds to the set of latencies which renders the trial signals most aligned as possible. A suitable genetic algorithm has been implemented to solve the optimization problem, characterized by new genetic operators tailored to the present problem. Main results. The results, on simulated trials, showed that the proposed algorithm performs better than Woody’s algorithm in all conditions, at the cost of an increased computational complexity (justified by the improved quality of the solution). Application of the proposed approach on real data trials, resulted in an increased correlation between latencies and reaction times w.r.t. the output from RIDE method. Significance. The above mentioned results on simulated and real data indicate that the proposed method, providing a better estimate of single-trial latencies, will open the way to more accurate study of neural responses as well as to the issue of relating the variability of latencies to the proper cognitive and behavioural correlates.

  14. Genetic association analysis of vitamin D receptor gene polymorphisms and obesity-related phenotypes. (United States)

    Correa-Rodríguez, M; Carrillo-Ávila, J A; Schmidt-RioValle, J; González-Jiménez, E; Vargas, S; Martín, J; Rueda-Medina, B


    Vitamin D has been established as a key factor in the development of obesity through the vitamin D receptor (VDR). The aim of this study was to investigate the contribution of the VDR gene to obesity-related phenotypes in a population of Caucasian young adults. The study population consisted of 701 healthy Spanish young adults (mean age 20.41±2.48). Three single-nucleotide polymorphisms (SNPs) of VDR (TaqI, BsmI and FokI) were selected as genetic markers. Body composition measurements including weight, body mass index (BMI), fat mass (FM), percentage of fat mass (PFM), fat-free mass (FFM) and visceral fat level (VFL) were analysed. Differences in obesity traits across the genotypes were determined using analysis of covariance (ANCOVA). The FokI polymorphism showed a significant association with PFM across the whole population after adjusting for age and sex (p=0.022). Age-adjusted analysis revealed an association between body weight and the TaqI and BsmI SNPs in males (p=0.033 and p=0.028, respectively). However, these positive findings did not remain significant after applying the Bonferroni correction for multiple testing. Our findings suggest that VDR genetic variants are unlikely to play a major role in obesity-related phenotypes in a population of Caucasian young adults. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. Constitutional and functional genetics of human alcohol-related hepatocellular carcinoma. (United States)

    Nahon, Pierre; Nault, Jean-Charles


    Exploration of the constitutional genetics of hepatocellular carcinoma (HCC) has identified numerous variants associated with a higher risk of liver cancer in alcoholic cirrhotic patients. Although Genome-Wide Association studies have not been carried out in the field of alcohol-related HCC, common single nucleotide polymorphisms conferring a small increase in the risk of liver cancer risk have been identified and shown to modulate ethanol metabolism, inflammation, oxidative stress, iron or lipid metabolism. Specific patterns of gene mutations including CTNNB1, TERT, ARID1A and SMARCA2 exist in alcohol-related HCC. Moreover, a specific mutational process observed at the nucleotide level by next generation sequencing has revealed cooperation between alcohol and tobacco in the development of HCC. Combining this genetic information with epidemiological and clinical data that might define specific HCC risk classes and refine surveillance strategies needs to be assessed in large prospective cohorts of patients with alcoholic cirrhosis. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  16. Genetic Association of Major Depression With Atypical Features and Obesity-Related Immunometabolic Dysregulations

    DEFF Research Database (Denmark)

    Milaneschi, Yuri; Lamers, Femke; Peyrot, Wouter J


    Importance: The association between major depressive disorder (MDD) and obesity may stem from shared immunometabolic mechanisms particularly evident in MDD with atypical features, characterized by increased appetite and/or weight (A/W) during an active episode. Objective: To determine whether...... subgroups of patients with MDD stratified according to the A/W criterion had a different degree of genetic overlap with obesity-related traits (body mass index [BMI] and levels of C-reactive protein [CRP] and leptin). Design, Setting, and Patients: This multicenter study assembled genome-wide genotypic...... between atypical depressive symptoms and obesity-related traits may arise from shared pathophysiologic mechanisms in patients with MDD. Development of treatments effectively targeting immunometabolic dysregulations may benefit patients with depression and obesity, both syndromes with important disability....

  17. Intellectual property rights related to the genetically modified glyphosate tolerant soybeans in Brazil. (United States)

    Rodrigues, Roberta L; Lage, Celso L S; Vasconcellos, Alexandre G


    The present work analyzes the different modalities of protection of the intellectual creations in the biotechnology agricultural field. Regarding the Brazilian legislations related to the theme (the Industrial Property Law - no. 9. 279/96 and the Plant Variety Protection Law - no. 9. 456/97), and based in the international treaties signed by Brazil, the present work points to the inclusions of each of them, as well as to their interfaces using as reference the case study of glyphosate tolerant genetically modified soybean. For this case study, Monsanto's pipelines patents were searched and used to analyze the limits of patent protection in respect to others related to the Intellectual Property (IP) laws. Thus, it was possible to elucidate the complex scenario of the Intellectual Property of the glyphosate tolerant soybeans, since for the farmer it is hard to correlate the royalties payment with the IP enterprise's rights.

  18. Selection on Optimal Haploid Value Increases Genetic Gain and Preserves More Genetic Diversity Relative to Genomic Selection


    Daetwyler, Hans D.; Hayden, Matthew J.; Spangenberg, German C.; Hayes, Ben J.


    Doubled haploids are routinely created and phenotypically selected in plant breeding programs to accelerate the breeding cycle. Genomic selection, which makes use of both phenotypes and genotypes, has been shown to further improve genetic gain through prediction of performance before or without phenotypic characterization of novel germplasm. Additional opportunities exist to combine genomic prediction methods with the creation of doubled haploids. Here we propose an extension to genomic selec...

  19. Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

    Directory of Open Access Journals (Sweden)

    Joshua J. Todd


    Full Text Available The ryanodine receptor 1-related congenital myopathies (RYR1-RM comprise a spectrum of slow, rare neuromuscular diseases. Affected individuals present with a mild-to-severe symptomatology ranging from proximal muscle weakness, hypotonia and joint contractures to scoliosis, ophthalmoplegia, and respiratory involvement. Although there is currently no FDA-approved treatment for RYR1-RM, our group recently conducted the first clinical trial in this patient population (NCT02362425. This study aimed to characterize novel RYR1 variants with regard to genetic, laboratory, muscle magnetic resonance imaging (MRI, and clinical findings. Genetic and histopathology reports were obtained from participant’s medical records. Alamut Visual Software was used to determine if participant’s variants had been previously reported and to assess predicted pathogenicity. Physical exams, pulmonary function tests, T1-weighted muscle MRI scans, and blood measures were completed during the abovementioned clinical trial. Six novel variants (two de novo, three dominant, and one recessive were identified in individuals with RYR1-RM. Consistent with established RYR1-RM histopathology, cores were observed in all biopsies, except Case 6 who exhibited fiber-type disproportion. Muscle atrophy and impaired mobility with Trendelenburg gait were the most common clinical symptoms and were identified in all cases. Muscle MRI revealed substantial inter-individual variation in fatty infiltration corroborating the heterogeneity of the disease. Two individuals with dominant RYR1 variants exhibited respiratory insufficiency: a clinical symptom more commonly associated with recessive RYR1-RM cases. This study demonstrates that a genetics-led approach is suitable for the diagnosis of suspected RYR1-RM which can be corroborated through histopathology, muscle MRI and clinical examination.

  20. Genetic predisposition for adult lactose intolerance and relation to diet, bone density, and bone fractures. (United States)

    Obermayer-Pietsch, Barbara M; Bonelli, Christine M; Walter, Daniela E; Kuhn, Regina J; Fahrleitner-Pammer, Astrid; Berghold, Andrea; Goessler, Walter; Stepan, Vinzenz; Dobnig, Harald; Leb, Georg; Renner, Wilfried


    Evidence that genetic disposition for adult lactose intolerance significantly affects calcium intake, bone density, and fractures in postmenopausal women is presented. PCR-based genotyping of lactase gene polymorphisms may complement diagnostic procedures to identify persons at risk for both lactose malabsorption and osteoporosis. Lactase deficiency is a common autosomal recessive condition resulting in decreased intestinal lactose degradation. A -13910 T/C dimorphism (LCT) near the lactase phlorizin hydrolase gene, reported to be strongly associated with adult lactase nonpersistence, may have an impact on calcium supply, bone density, and osteoporotic fractures in the elderly. We determined LCT genotypes TT, TC, and CC in 258 postmenopausal women using a polymerase chain reaction-based assay. Genotypes were related to milk intolerance, nutritional calcium intake, intestinal calcium absorption, bone mineral density (BMD), and nonvertebral fractures. Twenty-four percent of all women were found to have CC genotypes and genetic lactase deficiency. Age-adjusted BMD at the hip in CC genotypes and at the spine in CC and TC genotypes was reduced by -7% to -11% depending on the site measured (p = 0.04). LCT(T/C-13910) polymorphisms alone accounted for 2-4% of BMD in a multiple regression model. Bone fracture incidence was significantly associated with CC genotypes (p = 0.001). Milk calcium intake was significantly lower (-55%, p = 0.004) and aversion to milk consumption was significantly higher (+166%, p = 0.01) in women with the CC genotype, but there were no differences in overall dietary calcium intake or in intestinal calcium absorption test values. The LCT(T/C-13910) polymorphism is associated with subjective milk intolerance, reduced milk calcium intake, and reduced BMD at the hip and the lumbar spine and may predispose to bone fractures. Genetic testing for lactase deficiency may complement indirect methods in the detection of individuals at risk for both lactose

  1. Genetic control of late blight, yield and some yield related traits in tomato (lycopersicon esculentum mill.)

    International Nuclear Information System (INIS)

    Saleem, M.Y.; Asghar, M.; Khan, A.R.; Iqbal, Q.


    Genetic control of late blight (LB) and some economic traits was assessed to identify genotypes suitable for the hybrids were derived from crossing of 2 male sterile lines viz., development of late blight resistant hybrids in tomato. 10 F/sub 1/ hybrid were derived from crossing of 2 male sterile lines viz., TMS1 and TMS2 with 5 elite lines viz., Nagina, Riogrande, Roma, 88572 and Picdenato according to line x tester technique. Disease resistance was measured using detached leaf and whole plant assay techniques. Data were also recorded for days to maturity, number of fruit per plant, single fruit weight and yield per plant. The analysis of variance showed significant differences among crosses, lines, testers and line x tester interaction for almost all parameters. Estimate of genetic components indicated preponderance of additive type of gene action for detached leaf assay, whole plant assay, number of fruit per plant and yield per plant whereas non-additive type of gene action for days to maturity and single fruit weight. Among parents, TMS2, Nagina, Roma and Picdenato showed significant favorable general combing ability (GCA) effects for disease rating traits while TMS1 and Riogrande indicated desirable GCA effects for yield and some yield related traits. Among hybrids, TMS2 x Roma and TMS1 x Riogrande had significant specific combing ability (SCA) effects for detached and whole plant assays. However, hybrid TMS2 x Roma appeared as good combination of LB resistance as it had both parents with desirable GCA effects. All hybrids showed average type of SCA effects for yield and yield components. Genetic control of LB revealed that a multiple crossing program involving genotypes with high GCA effects would be rewarding to identify LB resistant genotypes in early generations. (author)

  2. lme4qtl: linear mixed models with flexible covariance structure for genetic studies of related individuals. (United States)

    Ziyatdinov, Andrey; Vázquez-Santiago, Miquel; Brunel, Helena; Martinez-Perez, Angel; Aschard, Hugues; Soria, Jose Manuel


    Quantitative trait locus (QTL) mapping in genetic data often involves analysis of correlated observations, which need to be accounted for to avoid false association signals. This is commonly performed by modeling such correlations as random effects in linear mixed models (LMMs). The R package lme4 is a well-established tool that implements major LMM features using sparse matrix methods; however, it is not fully adapted for QTL mapping association and linkage studies. In particular, two LMM features are lacking in the base version of lme4: the definition of random effects by custom covariance matrices; and parameter constraints, which are essential in advanced QTL models. Apart from applications in linkage studies of related individuals, such functionalities are of high interest for association studies in situations where multiple covariance matrices need to be modeled, a scenario not covered by many genome-wide association study (GWAS) software. To address the aforementioned limitations, we developed a new R package lme4qtl as an extension of lme4. First, lme4qtl contributes new models for genetic studies within a single tool integrated with lme4 and its companion packages. Second, lme4qtl offers a flexible framework for scenarios with multiple levels of relatedness and becomes efficient when covariance matrices are sparse. We showed the value of our package using real family-based data in the Genetic Analysis of Idiopathic Thrombophilia 2 (GAIT2) project. Our software lme4qtl enables QTL mapping models with a versatile structure of random effects and efficient computation for sparse covariances. lme4qtl is available at .

  3. A genetic risk score is associated with polycystic ovary syndrome-related traits. (United States)

    Lee, Hyejin; Oh, Jee-Young; Sung, Yeon-Ah; Chung, Hye Won


    Is a genetic risk score (GRS) associated with polycystic ovary syndrome (PCOS) and its related clinical features? The GRS calculated by genome-wide association studies (GWASs) was significantly associated with PCOS status and its related clinical features. PCOS is a heterogeneous disorder and is characterized by oligomenorrhea, hyperandrogenism and polycystic ovary morphology. Although recent GWASs have identified multiple genes associated with PCOS, a comprehensive genetic risk study of these loci with PCOS and related traits (e.g. free testosterone, menstruation number/year and ovarian morphology) has not been performed. This study was designed as a cross-sectional case-control study. We recruited 862 women with PCOS and 860 controls. Women with PCOS were divided into four subgroups: (1) oligomenorrhea + hyperandrogenism + polycystic ovary, (2) oligomenorrhea + hyperandrogenism, (3) oligomenorrhea + polycystic ovary and (4) hyperandrogenism + polycystic ovary. Genomic DNA was genotyped for the PCOS susceptibility loci using the HumanOmni1-Quad v1 array. Venous blood was drawn in the early follicular phase to measure baseline metabolic and hormonal parameters. A GRS was calculated by summing the number of risk alleles from 11 single-nucleotide polymorphisms (SNPs) that were identified in previous GWASs on PCOS. A weighted GRS (wGRS) was calculated by multiplying the number of risk alleles for each SNP by its estimated effect (beta) obtained from the association analysis. The GRS was higher in women with PCOS than in controls (8.8 versus 8.2, P treatment approaches, which could potentially improve health outcomes. None of the authors have any conflicts of interest to declare. No funding was obtained for the study. © The Author 2015. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email:

  4. JRC GMO-Amplicons: a collection of nucleic acid sequences related to genetically modified organisms. (United States)

    Petrillo, Mauro; Angers-Loustau, Alexandre; Henriksson, Peter; Bonfini, Laura; Patak, Alex; Kreysa, Joachim


    The DNA target sequence is the key element in designing detection methods for genetically modified organisms (GMOs). Unfortunately this information is frequently lacking, especially for unauthorized GMOs. In addition, patent sequences are generally poorly annotated, buried in complex and extensive documentation and hard to link to the corresponding GM event. Here, we present the JRC GMO-Amplicons, a database of amplicons collected by screening public nucleotide sequence databanks by in silico determination of PCR amplification with reference methods for GMO analysis. The European Union Reference Laboratory for Genetically Modified Food and Feed (EU-RL GMFF) provides these methods in the GMOMETHODS database to support enforcement of EU legislation and GM food/feed control. The JRC GMO-Amplicons database is composed of more than 240 000 amplicons, which can be easily accessed and screened through a web interface. To our knowledge, this is the first attempt at pooling and collecting publicly available sequences related to GMOs in food and feed. The JRC GMO-Amplicons supports control laboratories in the design and assessment of GMO methods, providing inter-alia in silico prediction of primers specificity and GM targets coverage. The new tool can assist the laboratories in the analysis of complex issues, such as the detection and identification of unauthorized GMOs. Notably, the JRC GMO-Amplicons database allows the retrieval and characterization of GMO-related sequences included in patents documentation. Finally, it can help annotating poorly described GM sequences and identifying new relevant GMO-related sequences in public databases. The JRC GMO-Amplicons is freely accessible through a web-based portal that is hosted on the EU-RL GMFF website. Database URL: © The Author(s) 2015. Published by Oxford University Press.

  5. Race/ethnicity, genetic ancestry, and breast cancer-related lymphedema in the Pathways Study. (United States)

    Kwan, Marilyn L; Yao, Song; Lee, Valerie S; Roh, Janise M; Zhu, Qianqian; Ergas, Isaac J; Liu, Qian; Zhang, Yali; Kutner, Susan E; Quesenberry, Charles P; Ambrosone, Christine B; Kushi, Lawrence H


    Breast cancer-related lymphedema (BCRL) is a serious chronic condition after breast cancer (BC) surgery and treatment. It is unclear if BCRL risk varies by race/ethnicity. In a multiethnic prospective cohort study of 2953 BC patients, we examined the association of self-reported BCRL status with self-reported race/ethnicity and estimated genetic ancestry. Hazard ratios (HR) and 95 % confidence intervals (CI) were calculated by multivariable Cox proportional hazards models, with follow-up starting 6 months post-BC diagnosis. Estimates were further stratified by body mass index (BMI). By 48 months of follow-up, 342 (11.6 %) women reported having BCRL. Younger age at BC diagnosis, higher BMI at baseline, and lower physical activity were associated with greater BCRL risk. African American (AA) women had a 2-fold increased risk of BCRL compared with White women (HR = 2.04; 95 % CI 1.35-3.08). African genetic ancestry was also associated with an increased risk (HR = 2.50; 95 % CI 1.43, 4.36). Both risks were attenuated but remained elevated after adjusting for known risk factors and became more pronounced when restricted to the nonobese women (adjusted HR = 2.31 for AA and HR = 3.70 for African ancestry, both p ancestry data, with a potential ancestry-obesity interaction.

  6. Fluorescent nanodiamond tracking reveals intraneuronal transport abnormalities induced by brain-disease-related genetic risk factors (United States)

    Haziza, Simon; Mohan, Nitin; Loe-Mie, Yann; Lepagnol-Bestel, Aude-Marie; Massou, Sophie; Adam, Marie-Pierre; Le, Xuan Loc; Viard, Julia; Plancon, Christine; Daudin, Rachel; Koebel, Pascale; Dorard, Emilie; Rose, Christiane; Hsieh, Feng-Jen; Wu, Chih-Che; Potier, Brigitte; Herault, Yann; Sala, Carlo; Corvin, Aiden; Allinquant, Bernadette; Chang, Huan-Cheng; Treussart, François; Simonneau, Michel


    Brain diseases such as autism and Alzheimer's disease (each inflicting >1% of the world population) involve a large network of genes displaying subtle changes in their expression. Abnormalities in intraneuronal transport have been linked to genetic risk factors found in patients, suggesting the relevance of measuring this key biological process. However, current techniques are not sensitive enough to detect minor abnormalities. Here we report a sensitive method to measure the changes in intraneuronal transport induced by brain-disease-related genetic risk factors using fluorescent nanodiamonds (FNDs). We show that the high brightness, photostability and absence of cytotoxicity allow FNDs to be tracked inside the branches of dissociated neurons with a spatial resolution of 12 nm and a temporal resolution of 50 ms. As proof of principle, we applied the FND tracking assay on two transgenic mouse lines that mimic the slight changes in protein concentration (∼30%) found in the brains of patients. In both cases, we show that the FND assay is sufficiently sensitive to detect these changes.

  7. Genetic basis of yield and some yield related traits in basmati rice

    International Nuclear Information System (INIS)

    Saleem, M.Y.; Haq, M.A.; Mirza, J.I.


    Additive, dominance and epistasis components of genetic variation for yield and some yield related traits were assessed through modified triple test cross technique in Basmati rice. Epistasis was found an important part of genetic variation for plant height, tillers per plant, secondary branches per panicle, grains per panicle, 1000-grain weight and yield per plant except primary branches per panicle and panicle length. Bifurcation of epistasis showed that additive x additive (i) type and additive x dominance + dominance x dominance (j + l) types of non-allelic interactions were involved in the expression of these traits. Additive and dominance type of gene action influenced the expression of primary branches per panicle and panicle length. No evidence of directional dominance was observed for these two traits. For plant height, tillers per plant, secondary branches per panicle, grains per panicle, 1000-grain weight and yield per plant, recurrent selection or bi parental mating may be exercised in F2 and following generations however, selection of desired plants may be postponed till F5 or F6 generations to permit maximum obsession of epistatic effects to develop desired cultivar(s) in Basmati rice.(author)

  8. Genetic Variability in DNA Repair Proteins in Age-Related Macular Degeneration

    Directory of Open Access Journals (Sweden)

    Janusz Blasiak


    Full Text Available The pathogenesis of age-related macular degeneration (AMD is complex and involves interactions between environmental and genetic factors, with oxidative stress playing an important role inducing damage in biomolecules, including DNA. Therefore, genetic variability in the components of DNA repair systems may influence the ability of the cell to cope with oxidative stress and in this way contribute to the pathogenesis of AMD. However, few reports have been published on this subject so far. We demonstrated that the c.977C>G polymorphism (rs1052133 in the hOGG1 gene and the c.972G>C polymorphism (rs3219489 in the MUTYH gene, the products of which play important roles in the repair of oxidatively damaged DNA, might be associated with the risk of AMD. Oxidative stress may promote misincorporation of uracil into DNA, where it is targeted by several DNA glycosylases. We observed that the g.4235T>C (rs2337395 and c.−32A>G (rs3087404 polymorphisms in two genes encoding such glycosylases, UNG and SMUG1, respectively, could be associated with the occurrence of AMD. Polymorphisms in some other DNA repair genes, including XPD (ERCC2, XRCC1 and ERCC6 (CSB have also been reported to be associated with AMD. These data confirm the importance of the cellular reaction to DNA damage, and this may be influenced by variability in DNA repair genes, in AMD pathogenesis.

  9. Genetic Differentiations among the Populations of Salvia japonica (Lamiaceae and Its Related Species

    Directory of Open Access Journals (Sweden)



    Full Text Available Morphological and genetic variations within Salvia japonica (Lamiaceae and its related species in Japan were analyzed for clarifying their taxonomic significance. The genetic variations were explored through chloroplast and nuclear ribosomal DNA sequences and allozyme polymorphisms. Since chromosome numbers characterized the genus of Salvia, we also examined whether the karyotypes were different. We examined 58 populations of S. japonica and 14 populations of others species of Salvia. Among the populations of S. japonica represented four forms (f. japonica, f. longipes, f. lanuginosa and f. albiflora. The size of chromosomes were various among Salvia spp. Based on the allozyme as well as the DNA sequence, the populations of S. japonica separated from the others Salvia species. The populations of S. japonica exhibited four combinations of the morphological characters. However, these combinations did not correlate to the four forms of S. japonica. In addition, the morphological variations did not correlate to the allozyme and DNA sequences. It is suggested that the four morphological variations as well as the four form of S. japonica should not considered to be a taxonomic unit; accordingly, S. japonica were considered to be still at the early stage of speciation process.

  10. Genetic Regulation of Embryological Limb Development with Relation to Congenital Limb Deformity in Humans


    Barham, Guy; Clarke, Nicholas M. P.


    Over the last 15 years, great improvements in genetic engineering and genetic manipulation strategies have led to significant advances in the understanding of the genetics governing embryological limb development. This field of science continues to develop, and the complex genetic interactions and signalling pathways are still not fully understood. In this review we will discuss the roles of the principle genes involved in the three-dimensional patterning of the developing limb and will discu...

  11. Ecology and distribution of two sympatric, closely related sponge species, Halichondria panicea (Pallas, 1766) and H. bowerbanki Burton, 1930 (Porifera, Demospongiae), with remarks on their speciation

    NARCIS (Netherlands)

    Vethaak, A.D.; Cronie, R.J.A.; Soest, van R.W.M.


    North Atlantic coastal waters harbour two closely related sympatric sponges belonging to the genus Halichondria, viz. H. panicea and H. bowerbanki. From the study of their littoral and sublittoral microdistribution and ecology in the Oosterschelde area (= Eastern Scheldt, S.W. part of The

  12. Niche segregation in two closely related species of stickleback along a physiological axis: explaining multidecadel changes in fish distribution from iron-induced respiratory impairment

    NARCIS (Netherlands)

    Verberk, W.C.E.P.; Munckhof, van den P.J.J.; Pollux, B.J.A.


    Acute exposure to iron can be lethal to fish, but long-term sublethal impacts of iron require further study. Here we investigated whether the spatial and temporal distribution (1967–2004) of two closely related species of stickleback matched the spatial distribution of iron concentrations in the

  13. Phytophthora megakarya and P. palmivora, closely related causal agents of cacao black pod rot, underwent increases in genome sizes and gene numbers by different mechanisms (United States)

    Phytophthora megakarya (Pmeg) and P. palmivora (Ppal) are closely related species causing black pod rot of cacao. While Ppal is a cosmopolitan plant pathogen, cacao is the only known host of importance for Pmeg. Pmeg is more virulent on cacao than Ppal. Therefore, we have sequenced both the Pmeg and...

  14. A pathway closely related to the (D)-tagatose pathway of gram-negative enterobacteria identified in the gram-positive bacterium Bacillus licheniformis. (United States)

    Van der Heiden, Edwige; Delmarcelle, Michaël; Lebrun, Sarah; Freichels, Régine; Brans, Alain; Vastenavond, Christian M; Galleni, Moreno; Joris, Bernard


    We report the first identification of a gene cluster involved in d-tagatose catabolism in Bacillus licheniformis. The pathway is closely related to the d-tagatose pathway of the Gram-negative bacterium Klebsiella oxytoca, in contrast to the d-tagatose 6-phosphate pathway described in the Gram-positive bacterium Staphylococcus aureus.

  15. A Pathway Closely Related to the d-Tagatose Pathway of Gram-Negative Enterobacteria Identified in the Gram-Positive Bacterium Bacillus licheniformis (United States)

    Van der Heiden, Edwige; Lebrun, Sarah; Freichels, Régine; Brans, Alain; Vastenavond, Christian M.; Galleni, Moreno; Joris, Bernard


    We report the first identification of a gene cluster involved in d-tagatose catabolism in Bacillus licheniformis. The pathway is closely related to the d-tagatose pathway of the Gram-negative bacterium Klebsiella oxytoca, in contrast to the d-tagatose 6-phosphate pathway described in the Gram-positive bacterium Staphylococcus aureus. PMID:23524682

  16. A Pathway Closely Related to the d-Tagatose Pathway of Gram-Negative Enterobacteria Identified in the Gram-Positive Bacterium Bacillus licheniformis


    Van der Heiden, Edwige; Delmarcelle, Michaël; Lebrun, Sarah; Freichels, Régine; Brans, Alain; Vastenavond, Christian M.; Galleni, Moreno; Joris, Bernard


    We report the first identification of a gene cluster involved in d-tagatose catabolism in Bacillus licheniformis. The pathway is closely related to the d-tagatose pathway of the Gram-negative bacterium Klebsiella oxytoca, in contrast to the d-tagatose 6-phosphate pathway described in the Gram-positive bacterium Staphylococcus aureus.

  17. Distinctive Features of Oral Cancer in Changhua County: High Incidence, Buccal Mucosa Preponderance, and a Close Relation to Betel Quid Chewing Habit

    Directory of Open Access Journals (Sweden)

    Che-Chun Su


    Conclusion: We conclude that the high incidence and buccal mucosa preponderance of oral cancer in Changhua may have an exceptionally close relation with patients' betel quid chewing habit, and other unknown etiologic factors may also be present locally. [J Formos Med Assoc 2007;106(3:225-233

  18. Genetic testing for colorectal carcinoma susceptibility: focus group responses of individuals with colorectal carcinoma and first-degree relatives. (United States)

    Kinney, A Y; DeVellis, B M; Skrzynia, C; Millikan, R


    Colorectal carcinoma (CRC) may be the most frequent form of hereditary cancer. Genetic counseling and testing for heritable CRC is a promising approach for reducing the high incidence and mortality rates associated with the disease. Patients with CRC or those with at least one family member with the disease are the most likely persons to request or be offered genetic testing in the clinical or research setting. Currently, however, little is known about the behavioral, psychosocial, ethical, legal, and economic outcomes of CRC genetic counseling and testing. Eight focus group interviews, four for CRC patients (n = 28) and four for first-degree relatives (n = 33), were conducted to obtain insights into attitudes, beliefs, and informational needs about genetic testing for hereditary CRC. Focus group interviews revealed a general lack of knowledge about cancer genetics and genetic testing; worry about confidentiality issues; strong concern for family members, particularly children; and a need for primary care providers to be informed about these issues. Major perceived advantages of genetic testing included improving health-related decisions, guiding physicians in making recommendations for surveillance, and informing relatives about risk potential. Disadvantages included potential discrimination, adverse psychologic effects, and financial costs associated with testing. As knowledge and media coverage of genetics continue to expand, it becomes increasingly important to continue efforts on behalf of, and in partnership with, those individuals most affected by genetic testing for hereditary cancer syndromes. These findings provide data needed to develop and implement informational, educational, counseling, and research-oriented programs that are sensitive to individuals' concerns and preferences. Copyright 2001 American Cancer Society.

  19. Genetic variation in transpiration efficiency and relationships between whole plant and leaf gas exchange measurements in Saccharum spp. and related germplasm. (United States)

    Jackson, Phillip; Basnayake, Jaya; Inman-Bamber, Geoff; Lakshmanan, Prakash; Natarajan, Sijesh; Stokes, Chris


    Fifty-one genotypes of sugarcane (Saccharum spp.) or closely related germplasm were evaluated in a pot experiment to examine genetic variation in transpiration efficiency. Significant variation in whole plant transpiration efficiency was observed, with the difference between lowest and highest genotypes being about 40% of the mean. Leaf gas exchange measurements were made across a wide range of conditions. There was significant genetic variation in intrinsic transpiration efficiency at a leaf level as measured by leaf internal CO2 (Ci) levels. Significant genetic variation in Ci was also observed within subsets of data representing narrow ranges of stomatal conductance. Ci had a low broad sense heritability (Hb = 0.11) on the basis of single measurements made at particular dates, because of high error variation and genotype × date interaction, but broad sense heritability for mean Ci across all dates was high (Hb = 0.81) because of the large number of measurements taken at different dates. Ci levels among genotypes at mid-range levels of conductance had a strong genetic correlation (-0.92 ± 0.30) with whole plant transpiration efficiency but genetic correlations between Ci and whole plant transpiration efficiency were weaker or not significant at higher and lower levels of conductance. Reduced Ci levels at any given level of conductance may result in improved yields in water-limited environments without trade-offs in rates of water use and growth. Targeted selection and improvement of lowered Ci per unit conductance via breeding may provide longer-term benefits for water-limited environments but the challenge will be to identify a low-cost screening methodology. © The Author 2015. Published by Oxford University Press on behalf of the Society for Experimental Biology.

  20. Genetic trend for growth and wool performance in a closed flock of Bharat Merino sheep at sub temperate region of Kodai hills, Tamil Nadu. (United States)

    Mallick, P K; Thirumaran, S M K; Pourouchottamane, R; Rajapandi, S; Venkataramanan, R; Nagarajan, G; Murali, G; Rajendiran, A S


    The study was conducted at Southern Regional Research Center, ICAR-Central Sheep and Wool Research Institute (CSWRI), Mannavanur, Kodaikanal, Tamil Nadu to estimate genetic trends for birth weight (BWT), weaning weight (3WT), 6 months weight (6WT), and greasy fleece weight (GFY) in a Bharat Merino (BM) flock, where selection was practiced for 6WT and GFY. The data for this study represents a total of 1652 BM lambs; progeny of 144 sires spread over 15 years starting from 2000 to 2014, obtained from the BM flock of ICAR-SRRC (CSWRI), Mannavanur, Kodaikanal, Tamil Nadu, India. The genetic trends were calculated by regression of average predicted breeding values using software WOMBAT for the traits BWT, 3WT, 6WT and GFY versus the animal's birth year. The least square means were 3.28±0.02 kg, 19.08±0.23 kg, 25.00±0.35 kg and 2.13±0.07 kg for BWT, 3WT, 6WT and GFY, respectively. Genetic trends were positive and highly significant (p<0.01) for BWT, while the values for 3WT, 6WT and GFY though positive, were not significant. The estimates of genetic trends in BWT, 3WT, 6WT and GFY were 5 g, 0.8 g, 7 g and 0.3 g/year gain and the fit of the regression shows 55%, 22%, 42% and 12% coefficient of determination with the regressed value, respectively. In this study, estimated mean predicted breeding value (kg) in BWT and 3WT, 6WT and GFY were 0.067, 0.008, 0.036 and -0.003, respectively. Estimates of genetic trends indicated that there was a positive genetic improvement in all studied traits and selection would be effective for the improvement of body weight traits and GFY of BM sheep.

  1. An evaluation of sequence tagged microsatellite site markers for genetic analysis within Citrus and related species. (United States)

    Kijas, J M; Fowler, J C; Thomas, M R


    Microsatellites, also called sequence tagged microsatellite sites (STMSs), have become important markers for genome analysis but are currently little studied in plants. To assess the value of STMSs for analysis within the Citrus plant species, two example STMSs were isolated from an intergeneric cross between rangpur lime (Citrus x limonia Osbeck) and trifoliate orange (Poncirus trifoliata (L.) Raf.). Unique flanking primers were constructed for polymerase chain reaction amplification both within the test cross and across a broad range of citrus and related species. Both loci showed length variation between test cross parents with alleles segregating in a Mendelian fashion to progeny. Amplification across species showed the STMS flanking primers to be conserved in every genome tested. The traits of polymorphism, inheritance, and conservation across species mean that STMS markers are ideal for genome mapping within Citrus, which contains high levels of genetic variability.

  2. Some improvements on adaptive genetic algorithms for reliability-related applications

    International Nuclear Information System (INIS)

    Ye Zhisheng; Li Zhizhong; Xie Min


    Adaptive genetic algorithms (GAs) have been shown to be able to improve GA performance in reliability-related optimization studies. However, there are different ways to implement adaptive GAs, some of which are even in conflict with each other. In this study, a simple parameter-adjusting method using mean and variance of each generation is introduced. This method is used to compare two of such conflicting adaptive GA methods: GAs with increasing mutation rate and decreasing crossover rate and GAs with decreasing mutation rate and increasing crossover rate. The illustrative examples indicate that adaptive GAs with decreasing mutation rate and increasing crossover rate finally yield better results. Furthermore, a population disturbance method is proposed to avoid local optimum solutions. This idea is similar to exotic migration to a tribal society. To solve the problem of large solution space, a variable roughening method is also embedded into GA. Two case studies are presented to demonstrate the effectiveness of the proposed method.

  3. Field of Genes: An Investigation of Sports-Related Genetic Testing

    Directory of Open Access Journals (Sweden)

    Jennifer K. Wagner


    Full Text Available Sports-related genetic testing is a sector of the diverse direct-to-consumer (DTC industry that has not yet been examined thoroughly by academic scholars. A systematic search was used to identify companies in this sector and content analysis of online information was performed. More than a dozen companies were identified. Marketing practices observed generally did not target parents for child testing, and marketing images were mild compared to images used in popular media. Information was provided at a high reading level (industry-wide Flesh-Kincaid Grade Levels > 11. While ~75% of companies provide privacy policies and terms of service prior to purchase and ~40% provide scientific citations for their tests,

  4. Straight versus tortuous retinal arteries in relation to blood pressure and genetics

    DEFF Research Database (Denmark)

    Taarnhøj, N C B B; Munch, I C; Sander, B


    dizygotic same-sex healthy twin pairs, aged 20 to 46 years, who were characterised by determination of retinal vessel diameters, arterial blood pressure, blood glucose, body mass index, smoking habits and retinal arterial tortuosity, using a three-level grading scale (straight, wavy, tortuous). Heritability......BACKGROUND/AIMS: To assess the relative influence of genetic and environmental factors on retinal arterial tortuosity and the association between tortuosity and various health indices in healthy young to middle-aged persons. METHODS: This cross-sectional study included 57 monozygotic and 52...... accounting for the remaining 18% (CI(95 )8, 36%). Increasing values of mean arterial blood pressure and body mass index were both associated with decreasing levels of retinal arterial tortuosity. CONCLUSION: There was a large variation in tortuosity of retinal arteries in these healthy subjects...

  5. Some improvements on adaptive genetic algorithms for reliability-related applications

    Energy Technology Data Exchange (ETDEWEB)

    Ye Zhisheng, E-mail: [Department of Industrial and Systems Engineering, National University of Singapore, Singapore 119 260 (Singapore); Li Zhizhong [Department of Industrial Engineering, Tsinghua University, beijing 100084 (China); Xie Min [Department of Industrial and Systems Engineering, National University of Singapore, Singapore 119 260 (Singapore)


    Adaptive genetic algorithms (GAs) have been shown to be able to improve GA performance in reliability-related optimization studies. However, there are different ways to implement adaptive GAs, some of which are even in conflict with each other. In this study, a simple parameter-adjusting method using mean and variance of each generation is introduced. This method is used to compare two of such conflicting adaptive GA methods: GAs with increasing mutation rate and decreasing crossover rate and GAs with decreasing mutation rate and increasing crossover rate. The illustrative examples indicate that adaptive GAs with decreasing mutation rate and increasing crossover rate finally yield better results. Furthermore, a population disturbance method is proposed to avoid local optimum solutions. This idea is similar to exotic migration to a tribal society. To solve the problem of large solution space, a variable roughening method is also embedded into GA. Two case studies are presented to demonstrate the effectiveness of the proposed method.

  6. Genetic Variants from Lipid-Related Pathways and Risk for Incident Myocardial Infarction (United States)

    Song, Ci; Pedersen, Nancy L.; Reynolds, Chandra A.; Sabater-Lleal, Maria; Kanoni, Stavroula; Willenborg, Christina; Syvänen, Ann-Christine; Watkins, Hugh; Hamsten, Anders; Prince, Jonathan A.; Ingelsson, Erik


    Background Circulating lipids levels, as well as several familial lipid metabolism disorders, are strongly associated with initiation and progression of atherosclerosis and incidence of myocardial infarction (MI). Objectives We hypothesized that genetic variants associated with circulating lipid levels would also be associated with MI incidence, and have tested this in three independent samples. Setting and Subjects Using age- and sex-adjusted additive genetic models, we analyzed 554 single nucleotide polymorphisms (SNPs) in 41 candidate gene regions proposed to be involved in lipid-related pathways potentially predisposing to incidence of MI in 2,602 participants of the Swedish Twin Register (STR; 57% women). All associations with nominal P<0.01 were further investigated in the Uppsala Longitudinal Study of Adult Men (ULSAM; N = 1,142). Results In the present study, we report associations of lipid-related SNPs with incident MI in two community-based longitudinal studies with in silico replication in a meta-analysis of genome-wide association studies. Overall, there were 9 SNPs in STR with nominal P-value <0.01 that were successfully genotyped in ULSAM. rs4149313 located in ABCA1 was associated with MI incidence in both longitudinal study samples with nominal significance (hazard ratio, 1.36 and 1.40; P-value, 0.004 and 0.015 in STR and ULSAM, respectively). In silico replication supported the association of rs4149313 with coronary artery disease in an independent meta-analysis including 173,975 individuals of European descent from the CARDIoGRAMplusC4D consortium (odds ratio, 1.03; P-value, 0.048). Conclusions rs4149313 is one of the few amino acid changing variants in ABCA1 known to associate with reduced cholesterol efflux. Our results are suggestive of a weak association between this variant and the development of atherosclerosis and MI. PMID:23555974

  7. Acceptance of genetically modified foods: the relation between technology and evaluation. (United States)

    Tenbült, Petra; De Vries, Nanne K; van Breukelen, Gerard; Dreezens, Ellen; Martijn, Carolien


    This study investigates why consumers accept different genetically modified food products to different extents. The study shows that whether food products are genetically modified or not and whether they are processed or not are the two important features that affect the acceptance of food products and their evaluation (in terms of perceived healthiness, naturalness, necessity and tastiness). The extent to which these evaluation attributes and acceptance of a product are affected by genetic modification or processing depends on whether the product is negatively affected by the other technology: Any technological change to a 'natural' product (when nonprocessed products are genetically modified or when non-genetically modified products are processed) affect evaluation and acceptance stronger than a change to an technologically adapted product (when processed products are also genetically modified or vice versa). Furthermore, evaluation attributes appear to mediate the effects of genetic modification and processing on acceptance.

  8. So far away, yet so close: strong genetic structure in Homonota uruguayensis (Squamata, Phyllodactylidae, a species with restricted geographic distribution in the Brazilian and Uruguayan Pampas.

    Directory of Open Access Journals (Sweden)

    Jéssica F Felappi

    Full Text Available The Pampas is a biologically rich South American biome, but is poorly represented in phylogeographic studies. While the Pleistocene glacial cycles may have affected the evolutionary history of species distributed in forested biomes, little is known about their effects on the habitats that remained stable through glacial cycles. The South American Pampas have been covered by grasslands during both glacial and interglacial periods and therefore represent an interesting system to test whether the genetic structure in such environments is less pronounced. In this study, we sampled Pampean populations of Homonota uruguayensis from Southern Brazil and Uruguay to assess the tempo and mode of population divergence, using both morphological measurements and molecular markers. Our results indicate that, in spite of its narrow geographic distribution, populations of H. uruguayensis show high levels of genetic structure. We found four major well-supported mtDNA clades with strong geographic associations. Estimates of their divergence times fell between 3.16 and 1.82 million years before the present. Populations from the central portion of the species distribution, on the border between Uruguay and Brazil, have high genetic diversity and may have undergone a population expansion approximately 250,000 years before the present. The high degree of genetic structure is reflected in the analyses of morphological characters, and most individuals could be correctly assigned to their parental population based on morphology alone. Finally, we discuss the biogeographic and conservation implications of these findings.

  9. Novel Techniques and Their Wide Applications to Health Foods, Medical and Agricultural Biotechnology in Relation to Policy Making on Genetically Modified Crops and Foods

    CERN Document Server

    Baianu, I C; Lozano, P; Lin, H C


    Selected applications of novel techniques in Agricultural Biotechnology, Health Food formulations and Medical Biotechnology are being reviewed with the aim of unraveling future developments and policy changes that are likely to open new markets for Biotechnology and prevent the shrinking or closing of existing ones. Amongst the selected novel techniques with applications in both Agricultural and Medical Biotechnology are: immobilized bacterial cells and enzymes, microencapsulation and liposome production, genetic manipulation of microorganisms, development of novel vaccines from plants, epigenomics of mammalian cells and organisms, and biocomputational tools for molecular modeling related to disease and Bioinformatics. Both fundamental and applied aspects of the emerging new techniques are being discussed in relation to their anticipated, marked impact on future markets and present policy changes that are needed for success in either Agricultural or Medical Biotechnology. The novel techniques are illustrated ...

  10. Genetic engineering in agriculture and corporate engineering in public debate: risk, public relations, and public debate over genetically modified crops. (United States)

    Patel, Rajeev; Torres, Robert J; Rosset, Peter


    Corporations have long influenced environmental and occupational health in agriculture, doing a great deal of damage, making substantial profits, and shaping public debate to make it appear that environmental misfortunes are accidents of an otherwise well-functioning system, rather than systemic. The debate over the genetically modified (GM) crops is an example. The largest producer of commercial GM seeds, Monsanto, exemplifies the industry's strategies: the invocation of poor people as beneficiaries, characterization of opposition as technophobic or anti-progress, and portrayal of their products as environmentally beneficial in the absence of or despite the evidence. This strategy is endemic to contemporary market capitalism, with its incentives to companies to externalize health and environmental costs to increase profits.

  11. Disclosure of genetics research results after the death of the patient participant: a qualitative study of the impact on relatives. (United States)

    Ormondroyd, E; Moynihan, C; Watson, M; Foster, C; Davolls, S; Ardern-Jones, A; Eeles, R


    When a gene mutation is identified in a research study following the death of the study participant, it is not clear whether such information should be made available to relatives. We report here an evaluation of the impact on relatives of being informed of study results that detected pathogenic BRCA2 mutations in a male relative, now deceased, who had early onset (under the age of 55) prostate cancer. The breast and ovarian cancer risk was unknown to the living relatives. Qualitative analysis of interviews with thirteen relatives indicated that those who had a higher risk perception, resulting from an awareness of cancer family history or experiential knowledge of cancer in their family, tended to adjust more easily to the results. All participants believed that genetics research results of clinical significance should be fed back to relatives. Those who were fully aware of the BRCA2 results and implications for themselves felt they had benefited from the information, irrespective of whether or not they had elected for genetic testing, because of the consequent availability of surveillance programs. Initial anxiety upon learning about the BRCA2 result was alleviated by genetic counselling. Factors influencing those who have not engaged with the information included scepticism related to the relative who attempted to inform them, young age and fear of cancer. Those who had not sought genetic counselling did not attempt further dissemination, and some were not undergoing regular screening. Implications for informed consent in genetics research programs, and the requirement for genetic counselling when research results are disclosed, are discussed.

  12. Closeness and distance in the nurse-patient relation. The relevance of Edith Stein's concept of empathy. (United States)

    Määttä, Sylvia M


    This paper emanates from the concept of empathy as understood by the German philosopher Edith Stein. It begins by highlighting different interpretations of empathy. According to the German philosopher Martin Buber, empathy cannot be achieved as an act of will. In contrast, the psychologist Carl Rogers believes that empathy is identical with dialogue and is the outcome of a cognitive act of active listening. The empathy concept of Edith Stein, philosopher and follower of Edmund Husserl's phenomenology, goes beyond these conflicting views and offers a more complex interpretation, with relevance for both healthcare and nursing education. When studying Stein's three-level model of empathy, a field of tension between perspectives of closeness and distance becomes apparent. The paper concludes by suggesting Stein's model of empathy as a strategy to overcome the tension and meet the demands of empathy.

  13. The genome of herpesvirus papio 2 is closely related to the genomes of human herpes simplex viruses. (United States)

    Bigger, John E; Martin, David W


    Infection of baboons (Papio species) with herpesvirus papio 2 (HVP-2) produces a disease that is clinically similar to herpes simplex virus (HSV-1 and HSV-2) infection of humans. The development of a primate model of simplexvirus infection based on HVP-2 would provide a powerful resource to study virus biology and test vaccine strategies. In order to characterize the molecular biology of HVP-2 and justify further development of this model system we have constructed a physical map of the HVP-2 genome. The results of these studies have identified the presence of 26 reading frames that closely resemble HSV homologues. Furthermore, the HVP-2 genome shares a collinear arrangement with the genome of HSV. These studies further validate the development of the HVP-2 model as a surrogate system to study the biology of HSV infections.

  14. Associations between genetic polymorphisms of insulin-like growth factor axis genes and risk for age-related macular degeneration (United States)

    Purpose: Our objective was to investigate if insulin-like growth factor (IGF) axis genes affect the risk for age-related macular degeneration (AMD). Methods: 864 Caucasian non-diabetic participants from the Age-Related Eye Disease Study (AREDS) Genetic Repository were used in this case control st...

  15. Genetic variation in meat production related traits in reindeer (Rangifer t. tarandus

    Directory of Open Access Journals (Sweden)

    Kirsi Muuttoranta


    Full Text Available Normal 0 21 false false false SV X-NONE X-NONE /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Normal tabell"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-parent:""; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin-top:0cm; mso-para-margin-right:0cm; mso-para-margin-bottom:10.0pt; mso-para-margin-left:0cm; line-height:115%; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-fareast-language:EN-US;} In reindeer husbandry, animal breeding could offer tools for improving productivity by selection. The traits affecting meat production efficiency are primarily related to calf growth and survival, and to dam’s longevity and lifetime ability to raise heavy calves. Information on genetic (covariation in these traits is scarce but needed in estimating the potential and effectiveness of selection as well as biological constraints. The objectives of the study were to estimate these genetic parameters from the data of an experimental reindeer herd at Kutuharju (Inari, Finland. Heritabilities (h2 and genetic correlations (rg among the average daily gain of calves (ADG, dams’ age at maturity, individual fitness (λind and the cumulative sum of her calves’ weaning weight over seven years (WW7 were studied with AS-Reml software using the dataset from the experimental herd. The pedigree included also sire information to allow the separation of the maternal effects. Direct and maternal heritabilities of ADG were moderate (0.24±0.09 and 0.18±0.05, respectively and the direct-maternal correlation was highly negative (-0.73±0.17. Indeed, selection on growth necessitates information on both calf and dam. The genetic correlation of growth with birth date and birth weight could not be detected with the data. The age

  16. Genomic resources for wild populations of the house mouse, Mus musculus and its close relative Mus spretus (United States)

    Harr, Bettina; Karakoc, Emre; Neme, Rafik; Teschke, Meike; Pfeifle, Christine; Pezer, Željka; Babiker, Hiba; Linnenbrink, Miriam; Montero, Inka; Scavetta, Rick; Abai, Mohammad Reza; Molins, Marta Puente; Schlegel, Mathias; Ulrich, Rainer G.; Altmüller, Janine; Franitza, Marek; Büntge, Anna; Künzel, Sven; Tautz, Diethard


    Wild populations of the house mouse (Mus musculus) represent the raw genetic material for the classical inbred strains in biomedical research and are a major model system for evolutionary biology. We provide whole genome sequencing data of individuals representing natural populations of M. m. domesticus (24 individuals from 3 populations), M. m. helgolandicus (3 individuals), M. m. musculus (22 individuals from 3 populations) and M. spretus (8 individuals from one population). We use a single pipeline to map and call variants for these individuals and also include 10 additional individuals of M. m. castaneus for which genomic data are publically available. In addition, RNAseq data were obtained from 10 tissues of up to eight adult individuals from each of the three M. m. domesticus populations for which genomic data were collected. Data and analyses are presented via tracks viewable in the UCSC or IGV genome browsers. We also provide information on available outbred stocks and instructions on how to keep them in the laboratory. PMID:27622383

  17. Rough and smooth morphotypes isolated from Lactobacillus farciminis CNCM I-3699 are two closely-related variants. (United States)

    Tareb, Raouf; Bernardeau, Marion; Horvath, Philippe; Vernoux, Jean-Paul


    This study focused on a pleomorphic strain Lactobacillus farciminis CNCM I-3699 known as probiotic for animal applications. On plating, this strain was characterized by the presence of rough and smooth morphotypes depending on experimental conditions. Dominant smooth (S) form, bright white, having smooth edges with moist, ropy, and creamy along with rough (R) form, pale white, having irregular edges and a dry and granular aspect were always obtained from the parent strain under aerobic culture conditions. In anaerobic conditions, only S form growth was observed. Biochemical dosage of capsular exopolysaccharides showed a significant difference between S and R forms (pstrains. Furthermore, the novelty and uniqueness of CRISPR spacer sequences in CNCM I-3699 provides a genetic support for the development of a molecular tracking tool for CNCM I-3699 and its variants. In conclusion, L. farciminis CNCM I-3699 is a pleomorphic strain giving reproducibly rise to two phenotypically distinct morphotypes R and S. This phenomenon may explain survival and growth abilities in in vitro fluctuating aerobic-anaerobic conditions along with modulation of exopolysaccharide synthesis and autoaggregation profile. Copyright © 2014 Elsevier B.V. All rights reserved.

  18. New genetic associations in thiopurine-related bone marrow toxicity among inflammatory bowel disease patients. (United States)

    Zabala, William; Cruz, Raquel; Barreiro-de Acosta, Manuel; Chaparro, María; Panes, Julián; Echarri, Ana; Esteve, Maria; Carpio, Daniel; Andreu, Montserrat; García-Planella, Esther; Domenech, Eugeni; Carracedo, Angel; Gisbert, Javier P; Barros, Francisco


    The toxicity related to thiopurine drug therapy for inflammatory bowel disease (IBD) varies widely among patients. Almost 15-30% of patients with IBD develop side effects during treatment, often bone marrow suppression. Several factors have been implicated in determining this toxicity, mainly individual genetic variation related to formation of active thiopurine metabolites. The aim was to identify genes involved in thiopurine-related myelosuppression. A two-stage investigation of 19,217 coding SNPs (cSNPs) was performed in a Spanish (Inflammatory Bowel Disease Group of Galicia [EIGA]) cohort of 173 IBD patients, 15 with bone marrow suppression. The top 20 cSNPs identified in the first stage with p ENEIDA) cohort (87 patients, 29 with bone marrow suppression). Several cSNPs showed a significant p-value in the allelic joint analysis (p-Cochran-Mantel-Haenszel test ≤2.55 × 10(-3)) despite no cSNP passing correction for multiple testing in the first cohort. Of note is rs3729961 in the gene IL6ST, a transducer signal chain shared by many cytokines including IL6 (p-value combined = 2.36 × 10(-4), odds ratio [95% CI]: 3.41 [1.71-6.78]). In addition, we detected association with rs3749598 in the FSTL5 gene that appears to interact with metalloproteases at the extracellular matrix level (p-value combined = 4.89 × 10(-4)), odds ratio (95% CI): 3.67 (1.68-8.01). We have identified IL6ST and FSLT5 as new bone marrow suppression susceptibility candidate genes after thiopurine treatment in IBD patients. This is the first report of variants associated with thiopurine-related myelosuppression that was identified by a genome-wide association study. Its validation awaits functional analyses and replication in additional studies. Original submitted 14 September 2012; Revision submitted 13 February 2013.

  19. Television watching, leisure time physical activity, and the genetic predisposition in relation to body mass index in women and men. (United States)

    Qi, Qibin; Li, Yanping; Chomistek, Andrea K; Kang, Jae H; Curhan, Gary C; Pasquale, Louis R; Willett, Walter C; Rimm, Eric B; Hu, Frank B; Qi, Lu


    Previous studies on gene-lifestyle interaction and obesity have focused mostly on the FTO gene and physical activity, whereas little attention has been paid to sedentary behavior as indicated by television (TV) watching. We analyzed interactions between TV watching, leisure time physical activity, and genetic predisposition in relation to body mass index (BMI) in 7740 women and 4564 men from 2 prospective cohorts: The Nurses' Health Study and the Health Professionals Follow-up Study. Data on physical activity and TV watching were collected 2 years before assessment of BMI. A weighted genetic risk score was calculated on the basis of 32 established BMI-associated variants. In both women and men, the genetic associations with BMI strengthened with increased hours of TV watching. An increment of 10 points in the weighted genetic risk score was associated with 0.8 (SE, 0.4), 0.8 (SE, 0.2), 1.4 (SE, 0.2), 1.5 (SE, 0.2), and 3.4 (SE, 1.0) kg/m(2) higher BMI across the 5 categories of TV watching (0-1, 2-5, 6-20, 21-40, and >40 h/wk; P for interaction=0.001). In contrast, the genetic association with BMI weakened with increased levels of physical activity. An increment of 10 points in the weighted genetic risk score was associated with 1.5 (SE, 0.2), 1.3 (SE, 0.2), 1.2 (SE, 0.2), 1.2 (SE, 0.2), and 0.8 (SE, 0.2) kg/m(2) higher BMI across the quintiles of physical activity. The interactions of TV watching and physical activity with genetic predisposition in relation to BMI were independent of each other. A sedentary lifestyle, indicated by prolonged TV watching, may accentuate the predisposition to elevated adiposity, whereas greater leisure time physical activity may attenuate the genetic association.

  20. Population-related genetic aspects of the low doses radiological risk and melanin influence on genetic radiosensitivity

    International Nuclear Information System (INIS)

    Mosse, I.B.; Plotnikova, S.I.; Kostrova, L.N.; Subbot, S.T.; Maksymenia, I.P.; Dubovic, B.V.


    From the genetic point of view, radiation sensitivity is a quantitative character, and the distribution of individuals in the population with different radiation sensitivities is characterized by a binomial curve. Thus rise in irradiation dose first results in a very slow increase in the number of sensitive genotypes, and then in a sharp rise. Since quantitative characters are dependent on several polymeric genes, and their manifestation is strongly affected by external conditions, radiation sensitivity of the organism depends on many hereditary and environmental factors. One of them is the presence of melanin pigment in cells. In particular, we have shown that the introduction of exogenous melanin into the organisms of mice reduces (2-4 times) the frequency of mutations, induced not only by acute, but also by chronic irradiation. It was also established, that mutational load, accumulated in drosophila populations, irradiated within 125 generations, has been decreased under melanin influence almost to the control level. Antimutagenic action of melanin is also manifested on cultured human cells. So, it was shown by the example of melanin, that it is possible to increase the radiation resistance of individuals, and in the first place of the population highly sensitive fraction. (author)

  1. Multilocus Sequence Typing Reveals a New Cluster of Closely Related Candida tropicalis Genotypes in Italian Patients With Neurological Disorders. (United States)

    Scordino, Fabio; Giuffrè, Letterio; Barberi, Giuseppina; Marino Merlo, Francesca; Orlando, Maria Grazia; Giosa, Domenico; Romeo, Orazio


    Candida tropicalis is a pathogenic yeast that has emerged as an important cause of candidemia especially in elderly patients with hematological malignancies. Infections caused by this species are mainly reported from Latin America and Asian-Pacific countries although recent epidemiological data revealed that C. tropicalis accounts for 6-16.4% of the Candida bloodstream infections (BSIs) in Italy by representing a relevant issue especially for patients receiving long-term hospital care. The aim of this study was to describe the genetic diversity of C. tropicalis isolates contaminating the hands of healthcare workers (HCWs) and hospital environments and/or associated with BSIs occurring in patients with different neurological disorders and without hematological disease. A total of 28 C. tropicalis isolates were genotyped using multilocus sequence typing analysis of six housekeeping ( ICL1, MDR1, SAPT2, SAPT4, XYR1 , and ZWF1 ) genes and data revealed the presence of only eight diploid sequence types (DSTs) of which 6 (75%) were completely new. Four eBURST clonal complexes (CC2, CC10, CC11, and CC33) contained all DSTs found in this study and the CC33 resulted in an exclusive, well-defined, clonal cluster from Italy. In conclusion, C. tropicalis could represent an important cause of BSIs in long-term hospitalized patients with no underlying hematological disease. The findings of this study also suggest a potential horizontal transmission of a specific C. tropicalis clone through hands of HCWs and expand our understanding of the molecular epidemiology of this pathogen whose population structure is still far from being fully elucidated as its complexity increases as different categories of patients and geographic areas are examined.

  2. Familial aggregation of gout and relative genetic and environmental contributions: a nationwide population study in Taiwan. (United States)

    Kuo, Chang-Fu; Grainge, Matthew J; See, Lai-Chu; Yu, Kuang-Hui; Luo, Shue-Fen; Valdes, Ana M; Zhang, Weiya; Doherty, Michael


    To examine familial aggregation of gout and to estimate the heritability and environmental contributions to gout susceptibility in the general population. Using data from the National Health Insurance (NHI) Research Database in Taiwan, we conducted a nationwide cross-sectional study of data collected from 22 643 748 beneficiaries of the NHI in 2004; among them 1 045 059 individuals had physician-diagnosed gout. We estimated relative risks (RR) of gout in individuals with affected first-degree and second-degree relatives and relative contributions of genes (heritability), common environment shared by family members and non-shared environment to gout susceptibility. RRs for gout were significantly higher in individuals with affected first-degree relatives (men, 1.91 (95% CI 1.90 to 1.93); women, 1.97 (95% CI 1.94 to 1.99)) and also in those with affected second-degree relatives (men, 1.27 (95% CI 1.23 to 1.31); women, 1.40 (95% CI 1.35 to 1.46)). RRs (95% CIs) for individuals with an affected twin, sibling, offspring, parent, grandchild, nephew/niece, uncle/aunt and grandparent were 8.02 (6.95 to 9.26), 2.59 (2.54 to 2.63), 1.96 (1.95 to 1.97), 1.93 (1.91 to 1.94), 1.48 (1.43 to 1.53), 1.40 (1.32 to 1.47), 1.31 (1.24 to 1.39), and 1.26 (1.21 to 1.30), respectively. The relative contributions of heritability, common and non-shared environmental factors to phenotypic variance of gout were 35.1, 28.1 and 36.8% in men and 17.0, 18.5 and 64.5% in women, respectively. This population-based study confirms that gout aggregates within families. The risk of gout is higher in people with a family history. Genetic and environmental factors contribute to gout aetiology, and the relative contributions are sexually dimorphic. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to

  3. Dietary Magnesium and Genetic Interactions in Diabetes and Related Risk Factors: A Brief Overview of Current Knowledge (United States)

    Hruby, Adela; McKeown, Nicola M.; Song, Yiqing; Djoussé, Luc


    Nutritional genomics has exploded in the last decade, yielding insights—both nutrigenomic and nutrigenetic—into the physiology of dietary interactions and our genes. Among these are insights into the regulation of magnesium transport and homeostasis and mechanisms underlying magnesium’s role in insulin and glucose handling. Recent observational evidence has attempted to examine some promising research avenues on interaction between genetics and dietary magnesium in relation to diabetes and diabetes risk factors. This brief review summarizes the recent evidence on dietary magnesium’s role in diabetes and related traits in the presence of underlying genetic risk, and discusses future potential research directions. PMID:24322525

  4. Association of HPA axis-related genetic variation with stress reactivity and aggressive behaviour in pigs

    Directory of Open Access Journals (Sweden)

    Muráni Eduard


    Full Text Available Abstract Background Stress, elicited for example by aggressive interactions, has negative effects on various biological functions including immune defence, reproduction, growth, and, in livestock, on product quality. Stress response and aggressiveness are mutually interrelated and show large interindividual variation, partly attributable to genetic factors. In the pig little is known about the molecular-genetic background of the variation in stress responsiveness and aggressiveness. To identify candidate genes we analyzed association of DNA markers in each of ten genes (CRH g.233C>T, CRHR1 c.*866_867insA, CRHBP c.51G>A, POMC c.293_298del, MC2R c.306T>G, NR3C1 c.*2122A>G, AVP c.207A>G, AVPR1B c.1084A>G, UCN g.1329T>C, CRHR2 c.*13T>C related to the hypothalamic-pituitary-adrenocortical (HPA axis, one of the main stress-response systems, with various stress- and aggression-related parameters at slaughter. These parameters were: physiological measures of the stress response (plasma concentrations of cortisol, creatine kinase, glucose, and lactate, adrenal weight (which is a parameter reflecting activity of the central branch of the HPA axis over time and aggressive behaviour (measured by means of lesion scoring in the context of psychosocial stress of mixing individuals with different aggressive temperament. Results The SNP NR3C1 c.*2122A>G showed association with cortisol concentration (p = 0.024, adrenal weight (p = 0.003 and aggressive behaviour (front lesion score, p = 0.012; total lesion score p = 0.045. The SNP AVPR1B c.1084A>G showed a highly significant association with aggressive behaviour (middle lesion score, p = 0.007; total lesion score p = 0.003. The SNP UCN g.1329T>C showed association with adrenal weight (p = 0.019 and aggressive behaviour (front lesion score, p = 0.029. The SNP CRH g.233C>T showed a significant association with glucose concentration (p = 0.002, and the polymorphisms POMC c.293_298del and MC2R c.306T>G with adrenal

  5. A Duty To Warn Relatives in Clinical Genetics: Arguably ‘Fair just and reasonable’ in English Law? (United States)

    Mitchell, C; Ploem, M C; Hennekam, R C M; Kaye, J


    The use of ‘next-generation’ genetic sequencing technology that allows the sequencing of large parts, or even the entirety, of a patient’s genome is advancing rapidly in the UK and around the world. This is set to greatly increase the level of health information that will be of relevance to relatives and the latest medical guidance advises that there is a professional duty to consider warning a patient’s relatives of a serious genetic risk in limited circumstances. However, the High Court in ABC v St George’s Healthcare NHS Trust [2015] EWHC 1394 (QB), recently found that a legal duty on the part of doctors to warn a patient’s daughter of a genetic risk of Huntington’s Disease without the patient’s consent, was not even ‘reasonably arguable’ and would not be ‘fair, just and reasonable’. This article considers the courts’ approach to a duty of care towards ‘third parties’ in this context and concludes that some form of a duty of care to genetic relatives in clinical genetics is at very least arguably ‘fair, just and reasonable’. PMID:27478488

  6. Management of insect pests: Nuclear and related molecular and genetic techniques

    International Nuclear Information System (INIS)


    The conference was organized in eight sessions: opening, genetic engineering and molecular biology, genetics, operational programmes, F 1 sterility and insect behaviour, biocontrol, research and development on the tsetse fly, and quarantine. The 64 individual contributions have been indexed separately for INIS. Refs, figs and tabs

  7. Genetic association analysis of 30 genes related to obesity in a European American population. (United States)

    Li, P; Tiwari, H K; Lin, W-Y; Allison, D B; Chung, W K; Leibel, R L; Yi, N; Liu, N


    Obesity, which is frequently associated with diabetes, hypertension and cardiovascular diseases, is primarily the result of a net excess of caloric intake over energy expenditure. Human obesity is highly heritable, but the specific genes mediating susceptibility in non-syndromic obesity remain unclear. We tested candidate genes in pathways related to food intake and energy expenditure for association with body mass index (BMI). We reanalyzed 355 common genetic variants of 30 candidate genes in seven molecular pathways related to obesity in 1982 unrelated European Americans from the New York Cancer Project. Data were analyzed by using a Bayesian hierarchical generalized linear model. The BMIs were log-transformed and then adjusted for covariates, including age, age(2), gender and diabetes status. The single-nucleotide polymorphisms (SNPs) were modeled as additive effects. With the stipulated adjustments, nine SNPs in eight genes were significantly associated with BMI: ghrelin (GHRL; rs35683), agouti-related peptide (AGRP; rs5030980), carboxypeptidase E (CPE; rs1946816 and rs4481204), glucagon-like peptide-1 receptor (GLP1R; rs2268641), serotonin receptors (HTR2A; rs912127), neuropeptide Y receptor (NPY5R;Y5R1c52), suppressor of cytokine signaling 3 (SOCS3; rs4969170) and signal transducer and activator of transcription 3 (STAT3; rs4796793). We also found a gender-by-SNP interaction (rs1745837 in HTR2A), which indicated that variants in the gene HTR2A had a stronger association with BMI in males. In addition, NPY1R was detected as having a significant gene effect even though none of the SNPs in this gene was significant. Variations in genes AGRP, CPE, GHRL, GLP1R, HTR2A, NPY1R, NPY5R, SOCS3 and STAT3 showed modest associations with BMI in European Americans. The pathways in which these genes participate regulate energy intake, and thus these associations are mechanistically plausible in this context.

  8. The Relationship between Instructor Misbehaviors and Student Antisocial Behavioral Alteration Techniques: The Roles of Instructor Attractiveness, Humor, and Relational Closeness (United States)

    Claus, Christopher J.; Booth-Butterfield, Melanie; Chory, Rebecca M.


    Using rhetorical/relational goal theory as a guiding frame, we examined relationships between instructor misbehaviors (i.e., indolence, incompetence, and offensiveness) and the likelihood of students communicating antisocial behavioral alteration techniques (BATs). More specifically, the study focused on whether students' perceptions of instructor…

  9. A tight association in two genetically unlinked dispersal related traits in sympatric and allopatric salt marsh beetle populations. (United States)

    Van Belleghem, Steven M; Hendrickx, Frederik


    Local adaptation likely involves selection on multiple, genetically unlinked traits to increase fitness in divergent habitats. Conversely, recombination is expected to counteract local adaptation under gene flow by breaking down adaptive gene combinations. Western European populations of the salt marsh beetle Pogonus chalceus are characterized by large interpopulation variation at various geographical ranges in two traits related to dispersal ability, i.e. wing size and different allozymes of the mitochondrial NADP(+)-dependent isocitrate dehydrogenase (mtIdh) gene. In this study, we tested whether variation in wing length was as strongly genetically determined in locally adapted populations in a sympatric mosaic compared to allopatric populations, and if variation in mtIDH and wing size was genetically unlinked. We demonstrate that the genetic determination of wing size is very high (h (2) = 0.90) in sympatry and of comparable magnitude as geographically separated populations. Second, we show that, although frequencies of mtIDH allozymes are tightly associated with mean population wing size across Western European populations, the correlation is strongly reduced within some of the populations. These findings demonstrate that the divergence involves at least two traits under independent genetic control and that the genetically distinct ecotypes are retained at geographical distances with ample opportunity for gene flow.

  10. Amygdala functional connectivity, HPA axis genetic variation, and life stress in children and relations to anxiety and emotion regulation. (United States)

    Pagliaccio, David; Luby, Joan L; Bogdan, Ryan; Agrawal, Arpana; Gaffrey, Michael S; Belden, Andrew C; Botteron, Kelly N; Harms, Michael P; Barch, Deanna M


    Internalizing pathology is related to alterations in amygdala resting state functional connectivity, potentially implicating altered emotional reactivity and/or emotion regulation in the etiological pathway. Importantly, there is accumulating evidence that stress exposure and genetic vulnerability impact amygdala structure/function and risk for internalizing pathology. The present study examined whether early life stress and genetic profile scores (10 single nucleotide polymorphisms within 4 hypothalamic-pituitary-adrenal axis genes: CRHR1, NR3C2, NR3C1, and FKBP5) predicted individual differences in amygdala functional connectivity in school-age children (9- to 14-year-olds; N = 120). Whole-brain regression analyses indicated that increasing genetic "risk" predicted alterations in amygdala connectivity to the caudate and postcentral gyrus. Experience of more stressful and traumatic life events predicted weakened amygdala-anterior cingulate cortex connectivity. Genetic "risk" and stress exposure interacted to predict weakened connectivity between the amygdala and the inferior and middle frontal gyri, caudate, and parahippocampal gyrus in those children with the greatest genetic and environmental risk load. Furthermore, amygdala connectivity longitudinally predicted anxiety symptoms and emotion regulation skills at a later follow-up. Amygdala connectivity mediated effects of life stress on anxiety and of genetic variants on emotion regulation. The current results suggest that considering the unique and interacting effects of biological vulnerability and environmental risk factors may be key to understanding the development of altered amygdala functional connectivity, a potential factor in the risk trajectory for internalizing pathology. (c) 2015 APA, all rights reserved).

  11. Amygdala functional connectivity, HPA axis genetic variation, and life stress in children and relations to anxiety and emotion regulation (United States)

    Pagliaccio, David; Luby, Joan L.; Bogdan, Ryan; Agrawal, Arpana; Gaffrey, Michael S.; Belden, Andrew C.; Botteron, Kelly N.; Harms, Michael P.; Barch, Deanna M.


    Internalizing pathology is related to alterations in amygdala resting state functional connectivity, potentially implicating altered emotional reactivity and/or emotion regulation in the etiological pathway. Importantly, there is accumulating evidence that stress exposure and genetic vulnerability impact amygdala structure/function and risk for internalizing pathology. The present study examined whether early life stress and genetic profile scores (10 single nucleotide polymorphisms within four hypothalamic-pituitary-adrenal axis genes: CRHR1, NR3C2, NR3C1, and FKBP5) predicted individual differences in amygdala functional connectivity in school-age children (9–14 year olds; N=120). Whole-brain regression analyses indicated that increasing genetic ‘risk’ predicted alterations in amygdala connectivity to the caudate and postcentral gyrus. Experience of more stressful and traumatic life events predicted weakened amygdala-anterior cingulate cortex connectivity. Genetic ‘risk’ and stress exposure interacted to predict weakened connectivity between the amygdala and the inferior and middle frontal gyri, caudate, and parahippocampal gyrus in those children with the greatest genetic and environmental risk load. Furthermore, amygdala connectivity longitudinally predicted anxiety symptoms and emotion regulation skills at a later follow-up. Amygdala connectivity mediated effects of life stress on anxiety and of genetic variants on emotion regulation. The current results suggest that considering the unique and interacting effects of biological vulnerability and environmental risk factors may be key to understanding the development of altered amygdala functional connectivity, a potential factor in the risk trajectory for internalizing pathology. PMID:26595470

  12. In situ genetic association for serotiny, a fire-related trait, in Mediterranean maritime pine (Pinus pinaster). (United States)

    Budde, Katharina B; Heuertz, Myriam; Hernández-Serrano, Ana; Pausas, Juli G; Vendramin, Giovanni G; Verdú, Miguel; González-Martínez, Santiago C


    Wildfire is a major ecological driver of plant evolution. Understanding the genetic basis of plant adaptation to wildfire is crucial, because impending climate change will involve fire regime changes worldwide. We studied the molecular genetic basis of serotiny, a fire-related trait, in Mediterranean maritime pine using association genetics. A single nucleotide polymorphism (SNP) set was used to identify genotype : phenotype associations in situ in an unstructured natural population of maritime pine (eastern Iberian Peninsula) under a mixed-effects model framework. RR-BLUP was used to build predictive models for serotiny in this region. Model prediction power outside the focal region was tested using independent range-wide serotiny data. Seventeen SNPs were potentially associated with serotiny, explaining approximately 29% of the trait phenotypic variation in the eastern Iberian Peninsula. Similar prediction power was found for nearby geographical regions from the same maternal lineage, but not for other genetic lineages. Association genetics for ecologically relevant traits evaluated in situ is an attractive approach for forest trees provided that traits are under strong genetic control and populations are unstructured, with large phenotypic variability. This will help to extend the research focus to ecological keystone non-model species in their natural environments, where polymorphisms acquired their adaptive value. © 2013 The Authors. New Phytologist © 2013 New Phytologist Trust.

  13. Genetic relations among procrastination, impulsivity, and goal-management ability: implications for the evolutionary origin of procrastination. (United States)

    Gustavson, Daniel E; Miyake, Akira; Hewitt, John K; Friedman, Naomi P


    Previous research has revealed a moderate and positive correlation between procrastination and impulsivity. However, little is known about why these two constructs are related. In the present study, we used behavior-genetics methodology to test three predictions derived from an evolutionary account that postulates that procrastination arose as a by-product of impulsivity: (a) Procrastination is heritable, (b) the two traits share considerable genetic variation, and (c) goal-management ability is an important component of this shared variation. These predictions were confirmed. First, both procrastination and impulsivity were moderately heritable (46% and 49%, respectively). Second, although the two traits were separable at the phenotypic level (r = .65), they were not separable at the genetic level (r genetic = 1.0). Finally, variation in goal-management ability accounted for much of this shared genetic variation. These results suggest that procrastination and impulsivity are linked primarily through genetic influences on the ability to use high-priority goals to effectively regulate actions. © The Author(s) 2014.

  14. Metabolic syndrome-related composite factors over 5 years in the STANISLAS family study: genetic heritability and common environmental influences. (United States)

    Herbeth, Bernard; Samara, Anastasia; Ndiaye, Coumba; Marteau, Jean-Brice; Berrahmoune, Hind; Siest, Gérard; Visvikis-Siest, Sophie


    We estimated genetic heritability and common environmental influences for various traits related to metabolic syndrome in young families from France. At entrance and after 5 years, nineteen traits related to metabolic syndrome were measured in a sample of families drawn from the STANISLAS study. In addition, 5 aggregates of these traits were identified using factor analysis. At entrance, genetic heritability was high (20 to 44%) for plasma lipids and lipoproteins, uric acid, fasting glucose, and the related clusters "risk lipids" and "protective lipids". Intermediate or low genetic heritability (less than 20%) was shown for triglycerides, adiposity indices, blood pressure, hepatic enzyme activity, inflammatory makers and the related clusters: "liver enzymes", "adiposity/blood pressure" and "inflammation". Moreover, common environmental influences were significant for all the parameters. With regard to 5-year changes, polygenic variance was low and not statistically significant for any of the individual variables or clusters whereas shared environment influence was significant. In these young families, genetic heritability of metabolic syndrome-related traits was generally lower than previously reported while the common environmental influences were greater. In addition, only shared environment contributed to short-term changes of these traits. Copyright 2010 Elsevier B.V. All rights reserved.

  15. Induction of genetic changes in Saccharomyces cerevisiae by partial drying in air of constant relative humidity and by UV

    International Nuclear Information System (INIS)

    Hieda, K.


    It was investigated whether there was a critical degree of dryness for induction of genetic changes by drying. Saccharomyces cerevisiae cells were dried in air of 0.33, 53 and 76% relative humidity (RH). The frequencies of mitotic recombination at ade2, of gene conversion at leu1, and of gene mutation at can1 were measured in X2447, XS1473 and S288C strains, respectively. After the cells had been dried at 0% RH for 4 h the frequencies of the genetic changes at ade2, leu1 and can1 were, respectively, 56, 7 and 3.5 times higher than each spontaneous frequency. Induction rates, defined as the frequencies of the induced genetic changes per unit time (1 h) of drying, were greatly decreased with increase in RH. Partial drying in air of 76% RH up to 4 and 8 h induced no genetic change at ade2 and leu1, respectively. It was concluded, therefore, that drying at a certain RH between 53 and 76% gave the critical degreee of dryness of cells for the induction of the genetic changes. The water contents of cells (g water per g dry material) were 12% at 53% RH and 21% at 76% RH, whereas the water content of native cells was 212%. Removal of a large amount of cellular water had no effect on the induction of the genetic changes. UV sensitivity of partially dried cells of X2447 for the induction of the genetic change at ade2 drastically increased with decrease in RH between 76 and 53%. The drastic change in the UV sensitivity suggested that photochemical reactivity of DNA of chromosome XV, in which the ade2 locus is located, changed between 76 and 53% RH. It seems that the genetic changes were induced only in the low RH region where DNA in vivo had a different photochemical reactivity. (orig.)

  16. Multilocus genetic models of handedness closely resemble single-locus models in explaining family data and are compatible with genome-wide association studies. (United States)

    McManus, I C; Davison, Angus; Armour, John A L


    Right- and left-handedness run in families, show greater concordance in monozygotic than dizygotic twins, and are well described by single-locus Mendelian models. Here we summarize a large genome-wide association study (GWAS) that finds no significant associations with handedness and is consistent with a meta-analysis of GWASs. The GWAS had 99% power to detect a single locus using the conventional criterion of P < 5 × 10(-8) for the single locus models of McManus and Annett. The strong conclusion is that handedness is not controlled by a single genetic locus. A consideration of the genetic architecture of height, primary ciliary dyskinesia, and intelligence suggests that handedness inheritance can be explained by a multilocus variant of the McManus DC model, classical effects on family and twins being barely distinguishable from the single locus model. Based on the ENGAGE meta-analysis of GWASs, we estimate at least 40 loci are involved in determining handedness. © 2013 New York Academy of Sciences.

  17. Masticatory function and oral health-related quality of life in patients after partial maxillectomies with closed or open defects. (United States)

    Said, Mohamed M; Otomaru, Takafumi; Yeerken, Yesiboli; Taniguchi, Hisashi


    The healing pattern after surgical resection of tumors of the oral cavity involving the maxilla may vary from one patient to another. The result may be open communication between the oral and nasal cavities (open defect) or complete oronasal separation after healing of the defect area (closed defect). The purpose of this clinical study was to compare masticatory function and oral health-related quality of life (OHRQoL) between patients with closed and open defects who had undergone a partial maxillectomy and were wearing dentomaxillary prostheses. Thirty-eight participants who had undergone a partial maxillectomy and who were wearing dentomaxillary prostheses were enrolled between September 2014 and April 2016. Participants were assigned to 2 groups according to the type of defect after healing: 19 participants had a closed defect, and 19 participants had an open defect. Masticatory function was evaluated objectively and subjectively. The objective measurement was food-mixing ability, which was assessed using color-changeable chewing gum. The subjective measurement was perceived mastication ability, rated as a masticatory score based on the patient's responses to a 35-item food intake questionnaire. OHRQoL was assessed using the Geriatric Oral Health Assessment Index (GOHAI). The GOHAI questionnaire consists of 12 items reflecting 3 hypothesized domains of the impact of oral disease: physical function, psychosocial function, and pain or discomfort. Differences in the scores obtained by the 3 measurements were compared between the 2 groups, using the Wilcoxon rank-sum test (α=.05). No significant differences were seen between the 2 groups in objective mixing ability, subjective masticatory score, or GOHAI (P>.05). Regarding the GOHAI physical function domain, only the swallowing item was significantly lower (P=.025) in participants with an open defect than in participants with a closed defect. Regarding the GOHAI psychological function domain, the item related to

  18. Ethics or Morals: Understanding Students' Values Related to Genetic Tests on Humans (United States)

    Lindahl, Mats Gunnar


    To make meaning of scientific knowledge in such a way that concepts and values of the life-world are not threatened is difficult for students and laymen. Ethics and morals pertaining to the use of genetic tests for hereditary diseases have been investigated and discussed by educators, anthropologists, medical doctors and philosophers giving, at least in part, diverging results. This study investigates how students explain and understand their argumentation about dilemmas concerning gene testing for the purpose to reduce hereditary diseases. Thirteen students were interviewed about their views on this issue. Qualitative analysis was done primarily by relating students’ argumentation to their movements between ethics and morals as opposing poles. Students used either objective or subjective knowledge but had difficulties to integrate them. They tried to negotiate ethic arguments using utilitarian motives and medical knowledge with sympathy or irrational and personal arguments. They discussed the embryo’s moral status to decide if it was replaceable in a social group or not. The educational implications of the students’ use of knowledge in personal arguments are discussed.

  19. Genetic Expression in Cystic Fibrosis Related Bone Disease. An Observational, Transversal, Cross-Sectional Study. (United States)

    Ciuca, Ioana M; Pop, Liviu L; Rogobete, Alexandru F; Onet, Dan I; Guta-Almajan, Bogdan; Popa, Zoran; Horhat, Florin G


    Cystic fibrosis (CF) is the most frequent monogenic genetic disease with autosomal recessive transmission and characterized by important clinical polymorphism and significant lethal prospective. CF related bone disease occurs frequently in adults with CF. Childhood is the period of bone formation, and therefore, children are more susceptible to low bone density. Several factors like pancreatic insufficiency, hormone imbalance, and physical inactivity contribute to CF bone disease development. Revealing this would be important for prophylactic treatment against bone disease occurrence. The study was observational, transversal, with a cross-sectional design. The study included 68 children with cystic fibrosis, genotyped and monitored in the National CF Centre. At the annual assessment, besides clinical examination, biochemical evaluation for pancreatic insufficiency, and diabetes, they were evaluated for bone mineral density using dual energy X-ray absorptiometry (DXA). Twenty-six patients, aged over 10 years were diagnosed with CF bone disease, without significant gender gap. Bone disease was frequent in patients aged over 10 years with exocrine pancreatic insufficiency, carriers of severe mutations, and CF liver disease. CF carriers of a severe genotype which associates pancreatic insufficiency and CF liver disease, are more likely predisposed to low bone mineral density. Further studies should discover other significant influences in order to prevent the development of CF bone disease and an improved quality of life in cystic fibrosis children.

  20. Transcription factor Fos-Related Antigen-2 induces progressive peripheral vasculopathy in mice closely resembling human systemic sclerosis


    Maurer, B; Busch, N; Jüngel, A; Pileckyte, M; Gay, R E; Michel, B A; Schett, G; Gay, S; Distler, J; Distler, O


    BACKGROUND: -Microvascular damage is one of the first pathological changes in systemic sclerosis. In this study, we investigated the role of Fos-related antigen-2 (Fra-2), a transcription factor of the activator protein-1 family, in the peripheral vasculopathy of systemic sclerosis and examined the underlying mechanisms. Methods and Results-Expression of Fra-2 protein was significantly increased in skin biopsies of systemic sclerosis patients compared with healthy controls, especially in endo...

  1. Genetics of complex diseases

    DEFF Research Database (Denmark)

    Mellerup, Erling; Møller, Gert Lykke; Koefoed, Pernille


    A complex disease with an inheritable component is polygenic, meaning that several different changes in DNA are the genetic basis for the disease. Such a disease may also be genetically heterogeneous, meaning that independent changes in DNA, i.e. various genotypes, can be the genetic basis...... for the disease. Each of these genotypes may be characterized by specific combinations of key genetic changes. It is suggested that even if all key changes are found in genes related to the biology of a certain disease, the number of combinations may be so large that the number of different genotypes may be close...... to the number of patients suffering from the disease. This hypothesis is based on a study of bipolar disorder....

  2. Reverse genetics of SARS-related coronavirus using vaccinia virus-based recombination.

    Directory of Open Access Journals (Sweden)

    Sjoerd H E van den Worm

    Full Text Available Severe acute respiratory syndrome (SARS is a zoonotic disease caused by SARS-related coronavirus (SARS-CoV that emerged in 2002 to become a global health concern. Although the original outbreak was controlled by classical public health measures, there is a real risk that another SARS-CoV could re-emerge from its natural reservoir, either in its original form or as a more virulent or pathogenic strain; in which case, the virus would be difficult to control in the absence of any effective antiviral drugs or vaccines. Using the well-studied SARS-CoV isolate HKU-39849, we developed a vaccinia virus-based SARS-CoV reverse genetic system that is both robust and biosafe. The SARS-CoV genome was cloned in separate vaccinia virus vectors, (vSARS-CoV-5prime and vSARS-CoV-3prime as two cDNAs that were subsequently ligated to create a genome-length SARS-CoV cDNA template for in vitro transcription of SARS-CoV infectious RNA transcripts. Transfection of the RNA transcripts into permissive cells led to the recovery of infectious virus (recSARS-CoV. Characterization of the plaques produced by recSARS-CoV showed that they were similar in size to the parental SARS-CoV isolate HKU-39849 but smaller than the SARS-CoV isolate Frankfurt-1. Comparative analysis of replication kinetics showed that the kinetics of recSARS-CoV replication are similar to those of SARS-CoV Frankfurt-1, although the titers of virus released into the culture supernatant are approximately 10-fold less. The reverse genetic system was finally used to generate a recSARS-CoV reporter virus expressing Renilla luciferase in order to facilitate the analysis of SARS-CoV gene expression in human dendritic cells (hDCs. In parallel, a Renilla luciferase gene was also inserted into the genome of human coronavirus 229E (HCoV-229E. Using this approach, we demonstrate that, in contrast to HCoV-229E, SARS-CoV is not able to mediate efficient heterologous gene expression in hDCs.

  3. Depression, pregnancy-related anxiety and parental-antenatal attachment in couples using preimplantation genetic diagnosis. (United States)

    Winter, C; Van Acker, F; Bonduelle, M; Van Berkel, K; Belva, F; Liebaers, I; Nekkebroeck, J


    Do preimplantation genetic diagnosis (PGD) couples experience higher levels of stress during pregnancy and the perinatal period compared with couples who conceive spontaneously (SC) or with ICSI? PGD couples did not experience more psychological stress during pregnancy and beyond than ICSI or SC couples. Previous studies have shown that assisted reproduction technology (ART) couples are more prone to pregnancy-related anxieties than SC couples, but display depressed feelings to an equal or lesser extent. However, only one study has focused on a female PGD sample, which may be a more vulnerable group than other ART groups, due to the potentially complex hereditary background, adverse childhood experiences and losses. In that study, PGD women experienced a reduction in state anxiety, and maternal-antenatal attachment did not differ from normative data. Unfortunately, no data exist on pregnancy-related anxiety, depression and parental-antenatal attachment. Valuable information from both parents (e.g.: couples) is also lacking. For this longitudinal prospective study questionnaire, data from 185 women and 157 men (157 couples) were collected between February 2012 until April 2014. Data were analysed using multilevel analysis. The couples conceiving after PGD, ICSI or SC were followed from the first trimester of the pregnancy until the third month post-partum. A total of 60 PGD, 58 ICSI and 69 SC couples were initially recruited by various departments of Universitair Ziekenhuis Brussel (UZ Brussel). At each trimester (T1: 12-14 weeks, T2: 20-22 weeks, T3: 30-32 weeks) of pregnancy, depression (EPDS), pregnancy-related anxieties (PRAQ) and parental-antenatal attachment (M/PAAS) were recorded. At T4 (3 months post-partum), depression (EPDS) was assessed again. In the first trimester (T1) broad socio-demographic data and at T4 perinatal health data of both mother and child were recorded. Differences between conception groups over time were analysed using multilevel

  4. The commercialization of human genetic information and related circumstances within Turkish law. (United States)

    Memiş, Tekin


    Today, human genetic information is used for commercial purposes as well. This means, based on the case, the direct or indirect commercialization of genetic information. In this study, this specific issue is analyzed in light of the new legal regulations as to the subject in the Turkish Law. Specifically, this study focuses on the issue of whether the commercialization of genetic information is allowed under the Turkish Law. This study also attempts to clarify the issue of whether there is any limitations for the commercialization of genetic information in the Turkish Law provided that the commercialization of genetic information is permitted. Prior to this legal analysis, the problems of the legal ownership for genetic information and of whether genetic information should be considered as an organ of human body is discussed. Accordingly, relevant Turkish laws and regulations are individually analyzed within this context. In the mean time legal regulations of some countries in this respect are taken into account with a comparative approach. In the end a general evaluation and suggestions are provided to the reader.

  5. Nature Versus Nurture: Does Proteostasis Imbalance Underlie the Genetic, Environmental, and Age-Related Risk Factors for Alzheimer's Disease? (United States)

    Kikis, Elise A


    Aging is a risk factor for a number of "age-related diseases", including Alzheimer's disease (AD). AD affects more than a third of all people over the age of 85, and is the leading cause of dementia worldwide. Symptoms include forgetfulness, memory loss, and cognitive decline, ultimately resulting in the need for full-time care. While there is no cure for AD, pharmacological approaches to alleviate symptoms and target underlying causes of the disease have been developed, albeit with limited success. This review presents the age-related, genetic, and environmental risk factors for AD and proposes a hypothesis for the mechanistic link between genetics and the environment. In short, much is known about the genetics of early-onset familial AD (EO-FAD) and the central role played by the Aβ peptide and protein misfolding, but late-onset AD (LOAD) is not thought to have direct genetic causes. Nonetheless, genetic risk factors such as isoforms of the protein ApoE have been identified. Additional findings suggest that air pollution caused by the combustion of fossil fuels may be an important environmental risk factor for AD. A hypothesis suggesting that poor air quality might act by disrupting protein folding homeostasis (proteostasis) is presented.

  6. The Genetic Intersection of Neurodevelopmental Disorders and Shared Medical Comorbidities – Relations that Translate from Bench to Bedside

    Directory of Open Access Journals (Sweden)

    Jamsine Plummer


    Full Text Available Most psychiatric disorders are considered neurodevelopmental, and the associated genes often are expressed in tissues outside of the brain. This suggests a biological relatedness with medical co-occurrences that could have broad clinical implications for diagnosis and patient management over a lifetime. A qualitative integration of public data from genetic consortia of psychiatric disorders and medical comorbidities explores the question of whether genetically associated psychiatric illnesses present with co-occurring disturbances can be used to define specific mental-physical health relations. Novel patterns of gene-disorder relations appear with approximately one-third of conservatively defined, consortia-generated candidate risk genes with multiple psychiatric diagnoses. Moreover, nearly as many genes overlap with non-psychiatric phenotypes, including cardiovascular, renal, respiratory and metabolic disturbances. While the landscape of genetic risk will change as study populations are expanded and biological confirmations accrue, the current relationships suggest that a mostly siloed perspective of gene relatedness to one categorical psychiatric diagnosis is not clinically useful. The future holds the promise that once candidates are fully validated, genome screening and mutation identification will bring more precision for predicting the risk for complex health conditions. Our view is that as genetic data is refined, continuing to decipher a shared pattern of genetic risk for brain and peripheral organ pathophysiology is not simply an academic exercise. Rather, determining relatedness will impact predictions of multifaceted health risks, patient treatment and management.

  7. Relationships between genetic polymorphisms in inflammation-related factor gene and the pathogenesis of nasopharyngeal cancer. (United States)

    Qu, Yan-Li; Yu, Hong; Chen, Yan-Zhi; Zhao, Yu-Xia; Chen, Guang-Jun; Bai, Lu; Liu, Dan; Su, Hong-Xin; Wang, He-Tong


    Our study aims to discuss the association between inflammation-related factors such as single nucleotide polymorphisms (SNPs) with susceptibility and recurrence in nasopharyngeal carcinoma. We used Taqman real-time polymerase chain reaction (PCR) to characterize the genetic variation of five SNPs in 194 nasopharyngeal carcinoma patients and 231 healthy subjects. All statistical analysis is performed with statistical product and service solutions v13.0; odds ratio (OR) value and 95 % confidence interval (CI) were calculated. There is no relationship between TGFβ1 -869 T/C, IL-6 -634C/G, TGFβ1 -509C/T, IL1 -511C/T and nasopharyngeal carcinoma susceptibility. Both single factor and multiple factors analysis showed that IL1a -889 T/T genotype is significantly associated with nasopharyngeal carcinoma in decreasing the risk of nasopharyngeal carcinoma. A highly significant association was found between IL1a -889 T/T genotype and protective genotype as defined by various pathological types. This is more obvious in the protective genotype of the non-keratin-type squamous carcinoma undifferentiated type. We also discovered that genotype G/G and C/G + G/G of IL6 -634 gene are associated with reduced recurrence of nasopharyngeal carcinoma. IL1a -889 gene polymorphism and susceptibility is related to nasopharyngeal carcinoma and can potentially decrease the risk of nasopharyngeal carcinoma in the Han Chinese population in north China. IL1-889 TT genotype is protective genotype for nasopharyngeal carcinoma. We have provided evidence that the GG genotype of the IL6 -634 gene is associated with recurrent risk of nasopharyngeal carcinoma. The G allele is the protective gene of nasopharyngeal carcinoma recurrence.

  8. Public health issues related with the consumption of food obtained from genetically modified organisms. (United States)

    Paparini, Andrea; Romano-Spica, Vincenzo


    Genetically Modified Organisms (GMOs) are a fact of modern agriculture and a major field of discussion in biotechnology. As science incessantly achieves innovative and unexpected breakthroughs, new medical, political, ethical and religious debates arise over the production and consumption of transgenic organisms. Despite no described medical condition being directly associated with a diet including approved GM crops in large exposed populations such as 300,000,000 Americans and a billion Chinese, public opinion seems to look at this new technology with either growing concern or even disapproval. It is generally recognized that a high level of vigilance is necessary and highly desirable, but it should also be considered that GMOs are a promising new challenge for the III Millennium societies, with remarkable impact on many disciplines and fields related to biotechnology. To acquire a basic knowledge on GMO production, GM-food consumption, GMO interaction with humans and environment is of primary importance for risk assessment. It requires availability of clear data and results from rigorous experiments. This review will focus on public health risks related with a GMO-containing diet. The objective is to summarize state of the art research, provide fundamental technical information, point out problems and perspectives, and make available essential tools for further research. Are GMO based industries and GMO-derived foods safe to human health? Can we consider both social, ethical and public health issues by means of a constant and effective monitoring of the food chain and by a clear, informative labeling of the products? Which are the so far characterized or alleged hazards of GMOs? And, most importantly, are these hazards actual, potential or merely contrived? Several questions remain open; answers and solutions belong to science, to politics and to the personal opinion of each social subject.

  9. Clinical and Genetic Analysis of Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism in Chinese.

    Directory of Open Access Journals (Sweden)

    Jing Kong

    Full Text Available Multiple endocrine neoplasia type 1-related primary hyperparathyroidism (MHPT differs in many aspects from sporadic PHPT (SHPT. The aims of this study were to summarize the clinical features and genetic background of Chinese MHPT patients and compare the severity of the disease with those of SHPT.A total of 40 MHPT (27 sporadic, 7 families and 169 SHPT cases of Chinese descent were retrospectively analyzed. X-rays and ultrasound were used to assess the bone and urinary system. Dual energy x-ray absorptiometry (DXA were performed to measure bone mineral density (BMD. Besides direct sequencing of the MEN1 and CDKN1B genes, multiplex ligation-dependent probe amplification (MLPA was used to screen gross deletion for the MEN1 gene.Compared with SHPT patients, MHPT patients showed lower prevalence of typical X-ray changes related to PHPT (26.3% vs. 55.7%, P = 0.001 but higher prevalence of urolithiasis/renal calcification (40.2% vs. 60.0%, P = 0.024. MHPT patients showed higher phosphate level (0.84 vs. 0.73mmol/L, P<0.05 but lower ALP (103.0 vs. 174.0U/L, P<0.001 and PTH (4.0 vs. 9.8×upper limit, P<0.001 levels than SHPT patients. There were no significant differences in BMD Z-scores at the lumbar spine and femoral neck between the two groups. Mutations in the MEN1 gene were detected in 27 MHPT cases. Among the nine novel mutations were novel, one of them involved the deletion of exon 5 and 6.MHPT patients experienced more common kidney complications but less skeletal issues, and a milder biochemical manifestation compared with SHPT patients. MEN1 mutation detection rate was 79.4% and 9 of the identified mutations were novel.

  10. High-Resolution Amplified Fragment Length Polymorphism Typing of Lactococcus lactis Strains Enables Identification of Genetic Markers for Subspecies-Related Phenotypes▿ (United States)

    Kütahya, Oylum Erkus; Starrenburg, Marjo J. C.; Rademaker, Jan L. W.; Klaassen, Corné H. W.; van Hylckama Vlieg, Johan E. T.; Smid, Eddy J.; Kleerebezem, Michiel


    A high-resolution amplified fragment length polymorphism (AFLP) methodology was developed to achieve the delineation of closely related Lactococcus lactis strains. The differentiation depth of 24 enzyme-primer-nucleotide combinations was experimentally evaluated to maximize the number of polymorphisms. The resolution depth was confirmed by performing diversity analysis on 82 L. lactis strains, including both closely and distantly related strains with dairy and nondairy origins. Strains clustered into two main genomic lineages of L. lactis subsp. lactis and L. lactis subsp. cremoris type-strain-like genotypes and a third novel genomic lineage rooted from the L. lactis subsp. lactis genomic lineage. Cluster differentiation was highly correlated with small-subunit rRNA homology and multilocus sequence analysis (MLSA) studies. Additionally, the selected enzyme-primer combination generated L. lactis subsp. cremoris phenotype-specific fragments irrespective of the genotype. These phenotype-specific markers allowed the differentiation of L. lactis subsp. lactis phenotype from L. lactis subsp. cremoris phenotype strains within the same L. lactis subsp. cremoris type-strain-like genomic lineage, illustrating the potential of AFLP for the generation of phenotype-linked genetic markers. PMID:21666014

  11. Predominance of new G9P[8] rotaviruses closely related to Turkish strains in Nizhny Novgorod (Russia). (United States)

    Sashina, T A; Morozova, O V; Epifanova, N V; Novikova, N A


    Genotype G9P[8] rotaviruses are rare in the territory of Russia. They were found in Nizhny Novgorod only in 2011-2012 for the first time, when their proportion was 25.9%. During the next two seasons, G9P[8] strains were detected in only 1.8% of cases. Their proportion substantially increased again in 2014, and they became predominant in the city by 2016. Phylogenetic analysis on the basis of gene VP7 nucleotide sequences showed that this increase was accompanied by the emergence of new strains in the population. These isolates were related to Turkish strains, but not to Russian ones detected earlier.

  12. Current Issues in the Neurology and Genetics of Learning-Related Traits and Disorders: Introduction to the Special Issue. (United States)

    Gilger, Jeffrey W.


    This introductory article briefly describes each of the following eight articles in this special issue on the neurology and genetics of learning related disorders. It notes the greater appreciation of learning disability as a set of complex disorders with broad and intricate neurological bases and of the large individual differences in how these…

  13. Genetic analysis of the estrogen-related receptor alpha and studies of association with obesity and type 2 diabetes

    DEFF Research Database (Denmark)

    Larsen, L H; Rose, C S; Sparsø, T


    The estrogen-related receptor alpha (ERRalpha or NR3B1) is a transcription factor from the nuclear receptor super-family, group III. The gene encoding ERRalpha (ESRRA) is located on chromosome 11q13, a region showing genetic linkage to body mass index and fat percentage. Through interaction...

  14. The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment

    NARCIS (Netherlands)

    Geerlings, M.J.; Jong, E.K.; Hollander, A.I. den


    Age-related macular degeneration (AMD) is a progressive retinal disease and the major cause of irreversible vision loss in the elderly. Numerous studies have found both common and rare genetic variants in the complement pathway to play a role in the pathogenesis of AMD. In this review we provide an

  15. [Beginnings of the study of Western sciences, "Rangaku," in Kyoto and Osaka in close relations with the Edo school]. (United States)

    Murata, T


    Beginnings of the study of Western sciences, "Rangaku," in Kyoto and Osaka in the late 18th century are reviewed. Profiles and achievements of several active learners are briefly described; they include Koishi Genzui (Osaka-Kyoto), Tsuji Ranshitsu (Kyoto), Kimura Kenkadō (Osaka), and Hashimoto Sōkichi (Osaka). Genzui, after having successfully made good relations with Sugita Genpaku and Ohtsuki Gentaku, leading masters of the Edo school, played a role of an advocator for promoting "Rangaku" in Osaka and Kyoto. As a result, Kenkadō attained the publication of his book "Ikkaku Sankō," a monograph of the Western crude drug unicorn, with the help of Gentaku, who had translated a Dutch reference into Japanese for him. Ranshitsu and Sōkichi were taught the Dutch language by Gentaku; Sōkichi is known as the founder of "Rangaku" in Osaka.

  16. Close Relationship of Ruminant Pestiviruses and Classical Swine Fever Virus (United States)

    Postel, Alexander; Schmeiser, Stefanie; Oguzoglu, Tuba Cigdem; Indenbirken, Daniela; Alawi, Malik; Fischer, Nicole; Grundhoff, Adam


    To determine why serum from small ruminants infected with ruminant pestiviruses reacted positively to classical swine fever virus (CSFV)–specific diagnostic tests, we analyzed 2 pestiviruses from Turkey. They differed genetically and antigenically from known Pestivirus species and were closely related to CSFV. Cross-reactions would interfere with classical swine fever diagnosis in pigs. PMID:25811683

  17. Insights into the genetics of gastroesophageal reflux disease (GERD) and GERD-related disorders. (United States)

    Böhmer, A C; Schumacher, J


    Gastroesophageal reflux disease (GERD) is associated with obesity and hiatal hernia, and often precedes the development of Barrett's esophagus (BE) and esophageal adenocarcinoma (EA). Epidemiological studies show that the global prevalence of GERD is increasing. GERD is a multifactorial disease with a complex genetic architecture. Genome-wide association studies (GWAS) have provided initial insights into the genetic background of GERD. The present review summarizes current knowledge of the genetics of GERD and a possible genetic overlap between GERD and BE and EA. The review discusses genes and cellular pathways that have been implicated through GWAS, and provides an outlook on how future molecular research will enhance understanding of GERD pathophysiology. © 2017 John Wiley & Sons Ltd.

  18. Age-related variation in genetic control of height growth in Douglas-fir. (United States)

    Namkoong, G; Usanis, R A; Silen, R R


    The development of genetic variances in height growth of Douglas-fir over a 53-year period is analyzed and found to fall into three periods. In the juvenile period, variances in environmental error increase logarithmically, genetic variance within populations exists at moderate levels, and variance among populations is low but increasing. In the early reproductive period, the response to environmental sources of error variance is restricted, genetic variance within populations disappears, and populational differences strongly emerge but do not increase as expected. In the later period, environmental error again increases rapidly, but genetic variance within populations does not reappear and population differences are maintained at about the same level as established in the early reproductive period. The change between the juvenile and early reproductive periods is perhaps associated with the onset of ecological dominance and significant allocations of energy to reproduction.

  19. The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

    DEFF Research Database (Denmark)

    Ng, Yi Shiau; Alston, Charlotte L; Diodato, Daria


    BACKGROUND: Mutations in the RMND1 (Required for Meiotic Nuclear Division protein 1) gene have recently been linked to infantile onset mitochondrial disease characterised by multiple mitochondrial respiratory chain defects. METHODS: We summarised the clinical, biochemical and molecular genetic in...

  20. Preliminary results on observation of genetic relations among the exotic cosmic-ray phenomena

    International Nuclear Information System (INIS)

    Hasegawa, S.


    In order to see the genetic hypothesis on the exotic interactions, a systematic study is made for the Chiron-type families on their secondary interactions in the emulsion chamber, and the results are presented. (L.C.) [pt

  1. Cross-species comparison of the gut: Differential gene expression sheds light on biological differences in closely related tenebrionids. (United States)

    Oppert, Brenda; Perkin, Lindsey; Martynov, Alexander G; Elpidina, Elena N


    The gut is one of the primary interfaces between an insect and its environment. Understanding gene expression profiles in the insect gut can provide insight into interactions with the environment as well as identify potential control methods for pests. We compared the expression profiles of transcripts from the gut of larval stages of two coleopteran insects, Tenebrio molitor and Tribolium castaneum. These tenebrionids have different life cycles, varying in the duration and number of larval instars. T. castaneum has a sequenced genome and has been a model for coleopterans, and we recently obtained a draft genome for T. molitor. We assembled gut transcriptome reads from each insect to their respective genomes and filtered mapped reads to RPKM>1, yielding 11,521 and 17,871 genes in the T. castaneum and T. molitor datasets, respectively. There were identical GO terms in each dataset, and enrichment analyses also identified shared GO terms. From these datasets, we compiled an ortholog list of 6907 genes; 45% of the total assembled reads from T. castaneum were found in the top 25 orthologs, but only 27% of assembled reads were found in the top 25 T. molitor orthologs. There were 2281 genes unique to T. castaneum, and 2088 predicted genes unique to T. molitor, although improvements to the T. molitor genome will likely reduce these numbers as more orthologs are identified. We highlight a few unique genes in T. castaneum or T. molitor that may relate to distinct biological functions. A large number of putative genes expressed in the larval gut with uncharacterized functions (36 and 68% from T. castaneum and T. molitor, respectively) support the need for further research. These data are the first step in building a comprehensive understanding of the physiology of the gut in tenebrionid insects, illustrating commonalities and differences that may be related to speciation and environmental adaptation. Published by Elsevier Ltd.

  2. On indicators of genetic relation between uranium-bearing bitumen with oil-like substances

    International Nuclear Information System (INIS)

    Pen'kov, V.F.


    Mineralogical indicators are considered which confirm that uranium-bearing (containing pitchblende) solid carbon substrates in the process of their formation had a stage of liquid-viscous state, and were sedimented in a close association with solid oil bitumens. The following cases are studied: 1) in concentrated macroextracts of uranium-bearing bitumens fine relicts of coloured oreless bitumens, less oxidated and carbonizated, are found sporadically in the passing light; 2) indicators of the development of black uranium-bearing bitumen along separate extracts or joint agregates of kerito- and asphalt-like substrates are observed in passing light within the veinlets of solid bitumens being in carbonate rocks; 3) linses of solid bitumens of fragmentary rock have zone structure according to the observation in passing light. The direct relation between black uranium-bearing bitumens and solid hydrocarbons which can form out of oil-like substances. Initial substances for them were defferent; resinous bitumens in the first case, kerito- and asphalt-like substances - in the second one, and paraffin substances - in the third one. It shows the nonselective character of the formation out of them of black uranium-bearing bitumens due to the processes of oxidation and carbonization [ru

  3. Genetic and environmental influences on the relation between parental social class and mortality

    DEFF Research Database (Denmark)

    Osler, Merete; Petersen, L.; Prescott, Eva Irene Bossano


    Genetic and maternal prenatal environmental factors as well as the post-natal rearing environment may contribute to the association between childhood socioeconomic circumstances and later mortality. In order to disentangle these influences, we studied all-cause and cause-specific mortality in a c...... in a cohort of adoptees, in whom we estimated the effects of their biological and adoptive fathers' social classes as indicators of the genetic and/or prenatal environmental factors and the post-natal environment, respectively....

  4. Genetic structure, relationships and admixture with wild relatives in native pig breeds from Iberia and its islands. (United States)

    Gama, Luis T; Martínez, Amparo M; Carolino, Inês; Landi, Vincenzo; Delgado, Juan V; Vicente, Antonio A; Vega-Pla, José L; Cortés, Oscar; Sousa, Conceição O


    Native pig breeds in the Iberian Peninsula are broadly classified as belonging to either the Celtic or the Mediterranean breed groups, but there are other local populations that do not fit into any of these groups. Most of the native pig breeds in Iberia are in danger of extinction, and the assessment of their genetic diversity and population structure, relationships and possible admixture between breeds, and the appraisal of conservation alternatives are crucial to adopt appropriate management strategies. A panel of 24 microsatellite markers was used to genotype 844 animals representing the 17 most important native swine breeds and wild populations existing in Portugal and Spain and various statistical tools were applied to analyze the results. Genetic diversity was high in the breeds studied, with an overall mean of 13.6 alleles per locus and an average expected heterozygosity of 0.80. Signs of genetic bottlenecks were observed in breeds with a small census size, and population substructure was present in some of the breeds with larger census sizes. Variability among breeds accounted for about 20% of the total genetic diversity, and was explained mostly by differences among the Celtic, Mediterranean and Basque breed groups, rather than by differences between domestic and wild pigs. Breeds clustered closely according to group, and proximity was detected between wild pigs and the Mediterranean cluster of breeds. Most breeds had their own structure and identity, with very little evidence of admixture, except for the Retinto and Entrepelado varieties of the Mediterranean group, which are very similar. Genetic influence of the identified breed clusters extends beyond the specific geographical areas across borders throughout the Iberian Peninsula, with a very sharp transition from one breed group to another. Analysis of conservation priorities confirms that the ranking of a breed for conservation depends on the emphasis placed on its contribution to the between- and

  5. Associations between Salivary Testosterone Levels, Androgen‐Related Genetic Polymorphisms, and Self‐Estimated Ejaculation Latency Time

    Directory of Open Access Journals (Sweden)

    Patrick Jern, PhD


    Conclusions: We were unable to find support for the hypothesis suggesting an association between T levels and ELT, possibly because of the low number of phenotypically extreme cases (the sample used in the present study was population based. Our results concerning genetic associations should be interpreted with caution until replication studies have been conducted. Jern P, Westberg L, Ankarberg‐Lindgren C, Johansson A, Gunst A, Sandnabba NK, and Santtila P. Associations between salivary testosterone levels, androgen‐related genetic polymorphisms, and self‐estimated ejaculation latency time. Sex Med 2014;2:107–114.

  6. The challenge for genetic epidemiologists: how to analyze large numbers of SNPs in relation to complex diseases. (United States)

    Heidema, A Geert; Boer, Jolanda M A; Nagelkerke, Nico; Mariman, Edwin C M; van der A, Daphne L; Feskens, Edith J M


    Genetic epidemiologists have taken the challenge to identify genetic polymorphisms involved in the development of diseases. Many have collected data on large numbers of genetic markers but are not familiar with available methods to assess their association with complex diseases. Statistical methods have been developed for analyzing the relation between large numbers of genetic and environmental predictors to disease or disease-related variables in genetic association studies. In this commentary we discuss logistic regression analysis, neural networks, including the parameter decreasing method (PDM) and genetic programming optimized neural networks (GPNN) and several non-parametric methods, which include the set association approach, combinatorial partitioning method (CPM), restricted partitioning method (RPM), multifactor dimensionality reduction (MDR) method and the random forests approach. The relative strengths and weaknesses of these methods are highlighted. Logistic regression and neural networks can handle only a limited number of predictor variables, depending on the number of observations in the dataset. Therefore, they are less useful than the non-parametric methods to approach association studies with large numbers of predictor variables. GPNN on the other hand may be a useful approach to select and model important predictors, but its performance to select the important effects in the presence of large numbers of predictors needs to be examined. Both the set association approach and random forests approach are able to handle a large number of predictors and are useful in reducing these predictors to a subset of predictors with an important contribution to disease. The combinatorial methods give more insight in combination patterns for sets of genetic and/or environmental predictor variables that may be related to the outcome variable. As the non-parametric methods have different strengths and weaknesses we conclude that to approach genetic association

  7. Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related hereditary haemochromatosis

    Directory of Open Access Journals (Sweden)

    Barton David E


    Full Text Available Abstract Background Hereditary haemochromatosis (HH is a recessively-inherited disorder of iron over-absorption prevalent in Caucasian populations. Affected individuals for Type 1 HH are usually either homozygous for a cysteine to tyrosine amino acid substitution at position 282 (C282Y of the HFE gene, or compound heterozygotes for C282Y and for a histidine to aspartic acid change at position 63 (H63D. Molecular genetic testing for these two mutations has become widespread in recent years. With diverse testing methods and reporting practices in use, there was a clear need for agreed guidelines for haemochromatosis genetic testing. The UK Clinical Molecular Genetics Society has elaborated a consensus process for the development of disease-specific best practice guidelines for genetic testing. Methods A survey of current practice in the molecular diagnosis of haemochromatosis was conducted. Based on the results of this survey, draft guidelines were prepared using the template developed by UK Clinical Molecular Genetics Society. A workshop was held to develop the draft into a consensus document. The consensus document was then posted on the Clinical Molecular Genetics Society website for broader consultation and amendment. Results Consensus or near-consensus was achieved on all points in the draft guidelines. The consensus and consultation processes worked well, and outstanding issues were documented in an appendix to the guidelines. Conclusion An agreed set of best practice guidelines were developed for diagnostic, predictive and carrier testing for hereditary haemochromatosis and for reporting the results of such testing.

  8. Transcription factor fos-related antigen-2 induces progressive peripheral vasculopathy in mice closely resembling human systemic sclerosis. (United States)

    Maurer, Britta; Busch, Nicole; Jüngel, Astrid; Pileckyte, Margarita; Gay, Renate E; Michel, Beat A; Schett, Georg; Gay, Steffen; Distler, Jörg; Distler, Oliver


    Microvascular damage is one of the first pathological changes in systemic sclerosis. In this study, we investigated the role of Fos-related antigen-2 (Fra-2), a transcription factor of the activator protein-1 family, in the peripheral vasculopathy of systemic sclerosis and examined the underlying mechanisms. Expression of Fra-2 protein was significantly increased in skin biopsies of systemic sclerosis patients compared with healthy controls, especially in endothelial and vascular smooth muscle cells. Fra-2 transgenic mice developed a severe loss of small blood vessels in the skin that was paralleled by progressive skin fibrosis at 12 weeks of age. The reduction in capillary density was preceded by a significant increase in apoptosis in endothelial cells at week 9 as detected by immunohistochemistry. Similarly, suppression of Fra-2 by small interfering RNA prevented human microvascular endothelial cells from staurosporine-induced apoptosis and improved both the number of tubes and the cumulative tube lengths in the tube formation assay. In addition, cell migration in the scratch assay and vascular endothelial growth factor-dependent chemotaxis in a modified Boyden chamber assay were increased after transfection of human microvascular endothelial cells with Fra-2 small interfering RNA, whereas proliferation was not affected. Fra-2 is present in human systemic sclerosis and may contribute to the development of microvasculopathy by inducing endothelial cell apoptosis and by reducing endothelial cell migration and chemotaxis. Fra-2 transgenic mice are a promising preclinical model to study the mechanisms and therapeutic approaches of the peripheral vasculopathy in systemic sclerosis.

  9. Similar local, but different systemic, metabolomics responses of closely related pine subspecies to folivory by caterpillars of the processionary moth

    Energy Technology Data Exchange (ETDEWEB)

    Rivas-Ubach, A. [Environmental Molecular Sciences Laboratory, Pacific Northwest National Laboratory, Richland WA USA; CSIC, Global Ecology Unit CREAF-CEAB-CSIC-UAB, Cerdanyola del Vallès, Catalonia Spain; Cerdanyola del Vallès, CREAF, Catalonia Spain; Sardans, J. [CSIC, Global Ecology Unit CREAF-CEAB-CSIC-UAB, Cerdanyola del Vallès, Catalonia Spain; Cerdanyola del Vallès, CREAF, Catalonia Spain; Hódar, J. A. [Grupo de Ecología Terrestre, Departamento de Biología Animal y Ecología, Facultad de Ciencias, Universidad de Granada, Granada Spain; Garcia-Porta, J. [Institute of Evolutionary Biology, CSIC-Universitat Pompeu Fabra, Barcelona Spain; Guenther, A. [Department of Earth System Science, University of California, Irvine CA USA; Global Change Research Centre, Academy of Sciences of the Czech Republic, Brno Czech Republic; Oravec, M. [Global Change Research Centre, Academy of Sciences of the Czech Republic, Brno Czech Republic; Urban, O. [Global Change Research Centre, Academy of Sciences of the Czech Republic, Brno Czech Republic; Peñuelas, J. [CSIC, Global Ecology Unit CREAF-CEAB-CSIC-UAB, Cerdanyola del Vallès, Catalonia Spain; Cerdanyola del Vallès, CREAF, Catalonia Spain; Leiss, K.


    Plants respond locally and systemically to herbivore attack. Most of the research conducted on plant-herbivore relationships at elemental and molecular levels have focused on nutrients or/and certain molecular compounds or specific families of defensive metabolites showing that herbivores tend to select plant individuals or species with higher nutrient concentrations and to avoid those with higher levels of phenolics and terpenes. Unfortunately, the defensive role of phenolics in conifers is still unclear. We performed stoichiometric and metabolomics, local and systemic, analyses in two subspecies of Pinus sylvestris under the herbivorous attack by the caterpillars of the pine processionary moth, an important pest in the Mediterranean Basin. Herbivorous attack was not associated with any of the elements analyzed. Both pine subspecies responded locally to folivory mainly by increasing the concentrations of various terpenes and phenolics. Systemic responses differed between subspecies and most of the metabolites presented intermediate concentrations between those of the affected parts and unattacked trees. Contrary as usually thought, foliar nutrient concentrations did not show to be a main factor of an alleged plant selection by adult female processionary moths for oviposition. Local increases in phenolics were more associated with antioxidant function for protection against oxidative damage produced by folivory. On the other hand, terpenes were directly related to defense against herbivores. Herbivory attack produced a general systemic shift in pines, including both primary and secondary metabolisms, that was, however, less intense and chemically different from the local responses. Subspecies responded similarly locally but differently to folivory at systemic level.

  10. Magnetic resonance imaging of blood brain/nerve barrier dysfunction and leukocyte infiltration: closely related or discordant?

    Directory of Open Access Journals (Sweden)

    Gesa eWeise


    Full Text Available Unlike other organs the nervous system is secluded from the rest of the organism by the blood brain (BBB or blood nerve barrier (BNB preventing passive influx of fluids from the circulation. Similarly, leukocyte entry to the nervous system is tightly controlled. Breakdown of these barriers and cellular inflammation are hallmarks of inflammatory as well as ischemic neurological diseases and thus represent potential therapeutic targets. The spatiotemporal relationship between BBB/BNB disruption and leukocyte infiltration has been a matter of debate. We here review contrast-enhanced magnetic resonance imaging (MRI as a non-invasive tool to depict barrier dysfunction and its relation to macrophage infiltration in the central and peripheral nervous system under pathological conditions. Novel experimental contrast agents like Gadofluorine M (Gf allow more sensitive assessment of BBB dysfunction than conventional Gadolinium (Gd-DTPA-enhanced MRI. In addition, Gf facilitates visualization of functional and transient alterations of the BBB remote from lesions. Cellular contrast agents such as superparamagnetic iron oxide particles (SPIO and perfluorocarbons (PFC enable assessment of leukocyte (mainly macrophage infiltration by MR technology. Combined use of these MR contrast agents disclosed that leukocytes can enter the nervous system independent from a disturbance of the BBB, and vice versa, a dysfunctional BBB/BNB by itself is not sufficient to attract inflammatory cells from the circulation. We will illustrate these basic imaging findings in animal models of multiple sclerosis (MS, cerebral ischemia and traumatic nerve injury and review corresponding findings in patients.

  11. Mimetic Muscles in a Despotic Macaque (Macaca mulatta) Differ from Those in a Closely Related Tolerant Macaque (M. nigra). (United States)

    Burrows, Anne M; Waller, Bridget M; Micheletta, Jérôme


    Facial displays (or expressions) are a primary means of visual communication among conspecifics in many mammalian orders. Macaques are an ideal model among primates for investigating the co-evolution of facial musculature, facial displays, and social group size/behavior under the umbrella of "ecomorphology". While all macaque species share some social behaviors, dietary, and ecological parameters, they display a range of social dominance styles from despotic to tolerant. A previous study found a larger repertoire of facial displays in tolerant macaque species relative to despotic species. The present study was designed to further explore this finding by comparing the gross morphological features of mimetic muscles between the Sulawesi macaque (Macaca nigra), a tolerant species, and the rhesus macaque (M. mulatta), a despotic species. Five adult M. nigra heads were dissected and mimetic musculature was compared to those from M. mulatta. Results showed that there was general similarity in muscle presence/absence between the species as well as muscle form except for musculature around the external ear. M. mulatta had more musculature around the external ear than M. nigra. In addition, M. nigra lacked a zygomaticus minor while M. mulatta is reported to have one. These morphological differences match behavioral observations documenting a limited range of ear movements used by M. nigra during facial displays. Future studies focusing on a wider phylogenetic range of macaques with varying dominance styles may further elucidate the roles of phylogeny, ecology, and social variables in the evolution of mimetic muscles within Macaca Anat Rec, 299:1317-1324, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  12. The function of the yeast molecular chaperone Sse1 is mechanistically distinct from the closely related hsp70 family. (United States)

    Shaner, Lance; Trott, Amy; Goeckeler, Jennifer L; Brodsky, Jeffrey L; Morano, Kevin A


    The Sse1/Hsp110 molecular chaperones are a poorly understood subgroup of the Hsp70 chaperone family. Hsp70 can refold denatured polypeptides via a C-terminal peptide binding domain (PBD), which is regulated by nucleotide cycling in an N-terminal ATPase domain. However, unlike Hsp70, both Sse1 and mammalian Hsp110 bind unfolded peptide substrates but cannot refold them. To test the in vivo requirement for interdomain communication, SSE1 alleles carrying amino acid substitutions in the ATPase domain were assayed for their ability to complement sse1Delta yeast. Surprisingly, all mutants predicted to abolish ATP hydrolysis (D8N, K69Q, D174N, D203N) complemented the temperature sensitivity of sse1Delta and lethality of sse1Deltasse2Delta cells, whereas mutations in predicted ATP binding residues (G205D, G233D) were non-functional. Complementation ability correlated well with ATP binding assessed in vitro. The extreme C terminus of the Hsp70 family is required for substrate targeting and heterocomplex formation with other chaperones, but mutant Sse1 proteins with a truncation of up to 44 C-terminal residues that were not included in the PBD were active. Remarkably, the two domains of Sse1, when expressed in trans, functionally complement the sse1Delta growth phenotype and interact by coimmunoprecipitation analysis. In addition, a functional PBD was required to stabilize the Sse1 ATPase domain, and stabilization also occurred in trans. These data represent the first structure-function analysis of this abundant but ill defined chaperone, and establish several novel aspects of Sse1/Hsp110 function relative to Hsp70.

  13. Genetic engineering to enhance crop-based phytonutrients (nutraceuticals) to alleviate diet-related diseases. (United States)

    Mattoo, Autar K; Shukla, Vijaya; Fatima, Tahira; Handa, Avtar K; Yachha, Surender K


    Nutrition studies have provided unambiguous evidence that a number of human health maladies including chronic coronary artery, hypertension, diabetes, osteoporosis, cancer and age- and lifestyle-related diseases are associated with the diet. Several favorable and a few deleterious natural dietary ingredients have been identified that predispose human populations to various genetic and epigenetic based disorders. Media dissemination of this information has greatly raised public awareness of the beneficial effects due to increased consumption of fruit, vegetables and whole grain cereals-foods rich in phytonutrients, protein and fiber. However, the presence of intrinsically low levels of the beneficial phytonutrients in the available genotypes of crop plants is not always at par with the recommended daily allowance (RDA) for different phytonutrients (nutraceuticals). Molecular engineering of crop plants has offered a number of tools to markedly enhance intracellular concentrations of some of the beneficial nutrients, levels that, in some cases, are closer to the RDA threshold. This review brings together literature on various strategies utilized for bioengineering both major and minor crops to increase the levels of desirable phytonutrients while also decreasing the concentrations of deleterious metabolites. Some of these include increases in: protein level in potato; lysine in corn and rice; methionine in alfalfa; carotenoids (beta-carotene, phytoene, lycopene, zeaxanthin and lutein) in rice, potato, canola, tomato; choline in tomato; folates in rice, corn, tomato and lettuce; vitamin C in corn and lettuce; polyphenolics such as flavonol, isoflavone, resveratrol, chlorogenic acid and other flavonoids in tomato; anthocyanin levels in tomato and potato; alpha-tocopherol in soybean, oil seed, lettuce and potato; iron and zinc in transgenic rice. Also, molecular engineering has succeeded in considerably reducing the levels of the offending protein glutelin in rice

  14. Response to Antenatal Cholecalciferol Supplementation Is Associated With Common Vitamin D-Related Genetic Variants. (United States)

    Moon, Rebecca J; Harvey, Nicholas C; Cooper, Cyrus; D'Angelo, Stefania; Curtis, Elizabeth M; Crozier, Sarah R; Barton, Sheila J; Robinson, Sian M; Godfrey, Keith M; Graham, Nikki J; Holloway, John W; Bishop, Nicholas J; Kennedy, Stephen; Papageorghiou, Aris T; Schoenmakers, Inez; Fraser, Robert; Gandhi, Saurabh V; Prentice, Ann; Inskip, Hazel M; Javaid, M Kassim


    Single-nucleotide polymorphisms (SNPs) in genes related to vitamin D metabolism have been associated with serum 25-hydroxyvitamin D [25(OH)D] concentration, but these relationships have not been examined following antenatal cholecalciferol supplementation. To determine whether SNPs in DHCR7, CYP2R1, CYP24A1, and GC are associated with the response to gestational cholecalciferol supplementation. Within-randomization group analysis of the Maternal Vitamin D Osteoporosis Study trial of antenatal cholecalciferol supplementation. Hospital antenatal clinics. In total, 682 women of white ethnicity (351 placebo, 331 cholecalciferol) were included. SNPs at rs12785878 (DHCR7), rs10741657 (CYP2R1), rs6013897 (CYP24A1), and rs2282679 (GC) were genotyped. 1000 IU/d cholecalciferol from 14 weeks of gestation until delivery. 25(OH)D at randomization and 34 weeks of gestation were measured in a single batch (Liaison; Diasorin, Dartford, UK). Associations between 25(OH)D and the SNPs were assessed by linear regression using an additive model [β represents the change in 25(OH)D per additional common allele]. Only rs12785878 (DHCR7) was associated with baseline 25(OH)D [β = 3.1 nmol/L; 95% confidence interval (CI), 1.0 to 5.2 nmol/L; P D status following supplementation, whereas rs12785878 and rs6013897 (CYP24A1) were not. Genetic variation in DHCR7, which encodes 7-dehyrocholesterol reductase in the epidermal vitamin D biosynthesis pathway, appears to modify baseline 25(OH)D. In contrast, the response to antenatal cholecalciferol supplementation was associated with SNPs in CYP2R1, which may alter 25-hydroxylase activity, and GC, which may affect vitamin D binding protein synthesis or metabolite affinity. Copyright © 2017 Endocrine Society

  15. Genetics of serum carotenoid concentrations and their correlation with obesity-related traits in Mexican American children. (United States)

    Farook, Vidya S; Reddivari, Lavanya; Mummidi, Srinivas; Puppala, Sobha; Arya, Rector; Lopez-Alvarenga, Juan Carlos; Fowler, Sharon P; Chittoor, Geetha; Resendez, Roy G; Kumar, Birunda Mohan; Comuzzie, Anthony G; Curran, Joanne E; Lehman, Donna M; Jenkinson, Christopher P; Lynch, Jane L; DeFronzo, Ralph A; Blangero, John; Hale, Daniel E; Duggirala, Ravindranath; Vanamala, Jairam Kp


    Background: Dietary intake of phytonutrients present in fruits and vegetables, such as carotenoids, is associated with a lower risk of obesity and related traits, but the impact of genetic variation on these associations is poorly understood, especially in children. Objective: We estimated common genetic influences on serum carotenoid concentrations and obesity-related traits in Mexican American (MA) children. Design: Obesity-related data were obtained from 670 nondiabetic MA children, aged 6-17 y. Serum α- and β-carotenoid concentrations were measured in ∼570 (α-carotene in 565 and β-carotene in 572) of these children with the use of an ultraperformance liquid chromatography-photodiode array. We determined heritabilities for both carotenoids and examined their genetic relation with 10 obesity-related traits [body mass index (BMI), waist circumference (WC), high-density lipoprotein (HDL) cholesterol, triglycerides, fat mass (FM), systolic and diastolic blood pressure, fasting insulin and glucose, and homeostasis model assessment of insulin resistance] by using family data and a variance components approach. For these analyses, carotenoid values were inverse normalized, and all traits were adjusted for significant covariate effects of age and sex. Results: Carotenoid concentrations were highly heritable and significant [α-carotene: heritability ( h 2 ) = 0.81, P = 6.7 × 10 -11 ; β-carotene: h 2 = 0.90, P = 3.5 × 10 -15 ]. After adjusting for multiple comparisons, we found significant ( P ≤ 0.05) negative phenotypic correlations between carotenoid concentrations and the following traits: BMI, WC, FM, and triglycerides (range: α-carotene = -0.19 to -0.12; β-carotene = -0.24 to -0.13) and positive correlations with HDL cholesterol (α-carotene = 0.17; β-carotene = 0.24). However, when the phenotypic correlations were partitioned into genetic and environmental correlations, we found marginally significant ( P = 0.051) genetic correlations only between

  16. Relative variations of gut microbiota in disordered cholesterol metabolism caused by high-cholesterol diet and host genetics. (United States)

    Bo, Tao; Shao, Shanshan; Wu, Dongming; Niu, Shaona; Zhao, Jiajun; Gao, Ling


    Recent studies performed provide mechanistic insight into effects of the microbiota on cholesterol metabolism, but less focus was given to how cholesterol impacts the gut microbiota. In this study, ApoE -/- Sprague Dawley (SD) rats and their wild-type counterparts (n = 12) were, respectively, allocated for two dietary condition groups (normal chow and high-cholesterol diet). Total 16S rDNA of fecal samples were extracted and sequenced by high-throughput sequencing to determine differences in microbiome composition. Data were collected and performed diversity analysis and phylogenetic analysis. The influence of cholesterol on gut microbiota was discussed by using cholesterol dietary treatment as exogenous cholesterol disorder factor and genetic modification as endogenous metabolic disorder factor. Relative microbial variations were compared to illustrate the causality and correlation of cholesterol and gut microbiota. It turned out comparing to genetically modified rats, exogenous cholesterol intake may play more effective role in changing gut microbiota profile, although the serum cholesterol level of genetically modified rats was even higher. Relative abundance of some representative species showed that the discrepancies due to dietary variation were more obvious, whereas some low abundance species changed because of genetic disorders. Our results partially demonstrated that gut microbiota are relatively more sensitive to dietary variation. Nevertheless, considering the important effect of bacteria in cholesterol metabolism, the influence to gut flora by "genetically caused cholesterol disorder" cannot be overlooked. Manipulation of gut microbiota might be an effective target for preventing cholesterol-related metabolic disorders. © 2017 The Authors. MicrobiologyOpen published by John Wiley & Sons Ltd.

  17. Close genetic relationship between Legionella pneumophila serogroup 1 isolates from sputum specimens and puddles on roads, as determined by sequence-based typing. (United States)

    Kanatani, Jun-ichi; Isobe, Junko; Kimata, Keiko; Shima, Tomoko; Shimizu, Miwako; Kura, Fumiaki; Sata, Tetsutaro; Watahiki, Masanori


    We investigated the prevalence of Legionella species isolated from puddles on asphalt roads. In addition, we carried out sequence-based typing (SBT) analysis on the genetic relationship between L. pneumophila serogroup 1 (SG 1) isolates from puddles and from stock strains previously obtained from sputum specimens and public baths. Sixty-nine water samples were collected from puddles on roads at 6 fixed locations. Legionella species were detected in 33 samples (47.8%) regardless of season. Among the 325 isolates from puddles, strains of L. pneumophila SG 1, a major causative agent of Legionnaires' disease, were the most frequently isolated (n = 62, 19.1%). Sixty-two isolates of L. pneumophila SG 1 from puddles were classified into 36 sequence types (STs) by SBT. ST120 and ST48 were identified as major STs. Environmental ST120 strains from puddles were found for the first time in this study. Among the 14 STs of the clinical isolates (n = 19), 4 STs (n = 6, 31.6%), including ST120, were also detected in isolates from puddles on roads, and the sources of infection in these cases remained unclear. The lag-1 gene, a tentative marker for clinical isolates, was prevalent in puddle isolates (61.3%). Our findings suggest that puddles on asphalt roads serve as potential reservoirs for L. pneumophila in the environment.

  18. Conserved PCR primer set designing for closely-related species to complete mitochondrial genome sequencing using a sliding window-based PSO algorithm.

    Directory of Open Access Journals (Sweden)

    Cheng-Hong Yang

    Full Text Available BACKGROUND: Complete mitochondrial (mt genome sequencing is becoming increasingly common for phylogenetic reconstruction and as a model for genome evolution. For long template sequencing, i.e., like the entire mtDNA, it is essential to design primers for Polymerase Chain Reaction (PCR amplicons which are partly overlapping each other. The presented chromosome walking strategy provides the overlapping design to solve the problem for unreliable sequencing data at the 5' end and provides the effective sequencing. However, current algorithms and tools are mostly focused on the primer design for a local region in the genomic sequence. Accordingly, it is still challenging to provide the primer sets for the entire mtDNA. METHODOLOGY/PRINCIPAL FINDINGS: The purpose of this study is to develop an integrated primer design algorithm for entire mt genome in general, and for the common primer sets for closely-related species in particular. We introduce ClustalW to generate the multiple sequence alignment needed to find the conserved sequences in closely-related species. These conserved sequences are suitable for designing the common primers for the entire mtDNA. Using a heuristic algorithm particle swarm optimization (PSO, all the designed primers were computationally validated to fit the common primer design constraints, such as the melting temperature, primer length and GC content, PCR product length, secondary structure, specificity, and terminal limitation. The overlap requirement for PCR amplicons in the entire mtDNA is satisfied by defining the overlapping region with the sliding window technology. Finally, primer sets were designed within the overlapping region. The primer sets for the entire mtDNA sequences were successfully demonstrated in the example of two closely-related fish species. The pseudo code for the primer design algorithm is provided. CONCLUSIONS/SIGNIFICANCE: In conclusion, it can be said that our proposed sliding window-based PSO

  19. Temperature as an ecological factor in the distribution of two closely related freshwater Triclads: an experimental study. [Polycelis tenuis, polycelis nigra

    Energy Technology Data Exchange (ETDEWEB)

    Lascombe, C.; Pattee, E.; Bornard, C.


    The influence of temperature on the ecophysiology of two closely related limnophilic Triclads, Polycelis tenuis and P. nigra, in the Lyons region was investigated. Both species have the same physiological rate in the middle zone of the temperature range, but P. tenuis prevails at both ends of the range. It tolerates higher temperatures and its reproduction rate is greater in the cold. Also, because of the existence of physiological races, it seems adapted to a greater diversity of situations. It appears as a real eurytherm. These different points contribute to the explanation of the habitat of both species in the region.

  20. Cancer Genetics Services Directory (United States)

    ... Services Directory Cancer Prevention Overview Research NCI Cancer Genetics Services Directory This directory lists professionals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, ...

  1. Intellectual property rights related to the genetically modified glyphosate tolerant soybeans in Brazil

    Directory of Open Access Journals (Sweden)

    Roberta L Rodrigues


    Full Text Available The present work analyzes the different modalities of protection of the intellectual creations in the biotechnology agricultural field. Regarding the Brazilian legislations related to the theme (the Industrial Property Law - no. 9. 279/96 and the Plant Variety Protection Law - no. 9. 456/97, and based in the international treaties signed by Brazil, the present work points to the inclusions of each of them, as well as to their interfaces using as reference the case study of glyphosate tolerant genetically modified soybean. For this case study, Monsanto's pipelines patents were searched and used to analyze the limits of patent protection in respect to others related to the Intellectual Property (IP laws. Thus, it was possible to elucidate the complex scenario of the Intellectual Property of the glyphosate tolerant soybeans, since for the farmer it is hard to correlate the royalties payment with the IP enterprise's rightsO presente trabalho analisa as diferentes modalidades de proteção das criações intelectuais no campo da biotecnologia agrícola. A partir das leis Brasileiras relacionadas ao tema (Lei da Propriedade Industrial - nº 9.279/96 e Lei da Proteção de Cultivares - nº 9.456/97, e com base nos tratados internacionais assinados pelo Brasil, o presente trabalho aponta as inclusões de cada uma, assim como, suas interfaces usando como referência o estudo de caso da soja geneticamente modificada para tolerância ao glifosato. Para este caso, patentes pipelines da Monsanto foram buscadas e usadas para analisar os limites de proteção das patentes frente às outras leis de Propriedade Intelectual (PI relacionadas. Assim, foi possível elucidar o cenário complexo da Propriedade Intelectual das sojas tolerantes ao glifosato, já que para o agricultor não é fácil correlacionar o pagamento dos royalties com os direitos de PI da empresa

  2. Higher physiopathogenicity by Fasciola gigantica than by the genetically close F. hepatica: experimental long-term follow-up of biochemical markers. (United States)

    Valero, M Adela; Bargues, M Dolores; Khoubbane, Messaoud; Artigas, Patricio; Quesada, Carla; Berinde, Lavinia; Ubeira, Florencio M; Mezo, Mercedes; Hernandez, Jose L; Agramunt, Veronica H; Mas-Coma, Santiago


    Fascioliasis is caused by Fasciola hepatica and F. gigantica. The latter, always considered secondary in human infection, nowadays appears increasingly involved in Africa and Asia. Unfortunately, little is known about its pathogenicity, mainly due to difficulties in assessing the moment a patient first becomes infected and the differential diagnosis with F. hepatica. A long-term, 24-week, experimental study comparing F. hepatica and F. gigantica was made for the first time in the same animal model host, Guirra sheep. Serum biochemical parameters of liver damage, serum electrolytes, protein metabolism, plasma proteins, carbohydrate metabolism, hepatic lipid metabolism and inflammation were analysed on a biweekly basis as morbidity indicators. Serum anti-Fasciola IgG, coproantigen and egg shedding were simultaneously followed up. rDNA and mtDNA sequencing and the morphometric study by computer image analysis system (CIAS) showed that fasciolids used fitted standard species characteristics. Results demonstrated that F. gigantica is more pathogenic, given its bigger size and biomass but not due to genetic differences which are few. Fasciola gigantica shows a delayed development of 1-2 weeks regarding both the biliary phase and the beginning of egg shedding, with respective consequences for biochemical modifications in the acute and chronic periods. The higher F. gigantica pathogenicity contrasts with previous studies which only reflected the faster development of F. hepatica observed in short-term experiments. © The Author 2015. Published by Oxford University Press on behalf of Royal Society of Tropical Medicine and Hygiene. All rights reserved. For permissions, please e-mail:

  3. Shared genetic aetiology of puberty timing between sexes and with health-related outcomes. (United States)

    Day, Felix R; Bulik-Sullivan, Brendan; Hinds, David A; Finucane, Hilary K; Murabito, Joanne M; Tung, Joyce Y; Ong, Ken K; Perry, John R B


    Understanding of the genetic regulation of puberty timing has come largely from studies of rare disorders and population-based studies in women. Here, we report the largest genomic analysis for puberty timing in 55,871 men, based on recalled age at voice breaking. Analysis across all genomic variants reveals strong genetic correlation (0.74, P=2.7 × 10(-70)) between male and female puberty timing. However, some loci show sex-divergent effects, including directionally opposite effects between sexes at the SIM1/MCHR2 locus (Pheterogeneity=1.6 × 10(-12)). We find five novel loci for puberty timing (Ppuberty, LEPR and KAL1. Finally, we identify genetic correlations that indicate shared aetiologies in both sexes between puberty timing and body mass index, fasting insulin levels, lipid levels, type 2 diabetes and cardiovascular disease.

  4. The Moroccan Genetic Disease Database (MGDD): a database for DNA variations related to inherited disorders and disease susceptibility. (United States)

    Charoute, Hicham; Nahili, Halima; Abidi, Omar; Gabi, Khalid; Rouba, Hassan; Fakiri, Malika; Barakat, Abdelhamid


    National and ethnic mutation databases provide comprehensive information about genetic variations reported in a population or an ethnic group. In this paper, we present the Moroccan Genetic Disease Database (MGDD), a catalogue of genetic data related to diseases identified in the Moroccan population. We used the PubMed, Web of Science and Google Scholar databases to identify available articles published until April 2013. The Database is designed and implemented on a three-tier model using Mysql relational database and the PHP programming language. To date, the database contains 425 mutations and 208 polymorphisms found in 301 genes and 259 diseases. Most Mendelian diseases in the Moroccan population follow autosomal recessive mode of inheritance (74.17%) and affect endocrine, nutritional and metabolic physiology. The MGDD database provides reference information for researchers, clinicians and health professionals through a user-friendly Web interface. Its content should be useful to improve researches in human molecular genetics, disease diagnoses and design of association studies. MGDD can be publicly accessed at

  5. High-Density Genetic Map Construction and Stem Total Polysaccharide Content-Related QTL Exploration for Chinese Endemic Dendrobium (Orchidaceae) (United States)

    Lu, Jiangjie; Liu, Yuyang; Xu, Jing; Mei, Ziwei; Shi, Yujun; Liu, Pengli; He, Jianbo; Wang, Xiaotong; Meng, Yijun; Feng, Shangguo; Shen, Chenjia; Wang, Huizhong


    Plants of the Dendrobium genus are orchids with not only ornamental value but also high medicinal value. To understand the genetic basis of variations in active ingredients of the stem total polysaccharide contents (STPCs) among different Dendrobium species, it is of paramount importance to understand the mechanism of STPC formation and identify genes affecting its process at the whole genome level. Here, we report the first high-density single-nucleotide polymorphism (SNP) integrated genetic map with a good genome coverage of Dendrobium. The specific-locus amplified fragment sequencing (SLAF-seq) technology led to identification of 7,013,400 SNPs from 1,503,626 high-quality SLAF markers from two parents (Dendrobium moniliforme ♀ × Dendrobium officinale ♂) and their interspecific F1 hybrid population. The final genetic map contained 8, 573 SLAF markers, covering 19 linkage groups (LGs). This genetic map spanned a length of 2,737.49 cM, where the average distance between markers is 0.32 cM. In total, 5 quantitative trait loci (QTL) related to STPC were identified, 3 of which have candidate genes within the confidence intervals of these stable QTLs based on the D. officinale genome sequence. This study will build a foundation up for the mapping of other medicinal-related traits and provide an important reference for the molecular breeding of these Chinese herb. PMID:29636767

  6. Imprints from genetic drift and mutation imply relative divergence times across marine transition zones in a Pan European small pelagic fish (Sprattus sprattus)

    DEFF Research Database (Denmark)

    Limborg, Morten; Hanel, R.; Debes, P.


    .) by combining inference from both mtDNA and microsatellite genetic markers throughout the species’ distribution. We compared effects from genetic drift and mutation for both genetic markers in shaping genetic differentiation across four transition zones. Microsatellite markers revealed significant isolation...... by distance and a complex population structure across the species0 distribution (overall yST¼0.038, Po0.01). Across transition zones markers indicated larger effects of genetic drift over mutations in the northern distribution of sprat contrasting a stronger relative impact of mutation in the species...

  7. Comparison of relative efficiency of genomic SSR and EST-SSR markers in estimating genetic diversity in sugarcane. (United States)

    Parthiban, S; Govindaraj, P; Senthilkumar, S


    Twenty-five primer pairs developed from genomic simple sequence repeats (SSR) were compared with 25 expressed sequence tags (EST) SSRs to evaluate the efficiency of these two sets of primers using 59 sugarcane genetic stocks. The mean polymorphism information content (PIC) of genomic SSR was higher (0.72) compared to the PIC value recorded by EST-SSR marker (0.62). The relatively low level of polymorphism in EST-SSR markers may be due to the location of these markers in more conserved and expressed sequences compared to genomic sequences which are spread throughout the genome. Dendrogram based on the genomic SSR and EST-SSR marker data showed differences in grouping of genotypes. A total of 59 sugarcane accessions were grouped into 6 and 4 clusters using genomic SSR and EST-SSR, respectively. The highly efficient genomic SSR could subcluster the genotypes of some of the clusters formed by EST-SSR markers. The difference in dendrogram observed was probably due to the variation in number of markers produced by genomic SSR and EST-SSR and different portion of genome amplified by both the markers. The combined dendrogram (genomic SSR and EST-SSR) more clearly showed the genetic relationship among the sugarcane genotypes by forming four clusters. The mean genetic similarity (GS) value obtained using EST-SSR among 59 sugarcane accessions was 0.70, whereas the mean GS obtained using genomic SSR was 0.63. Although relatively lower level of polymorphism was displayed by the EST-SSR markers, genetic diversity shown by the EST-SSR was found to be promising as they were functional marker. High level of PIC and low genetic similarity values of genomic SSR may be more useful in DNA fingerprinting, selection of true hybrids, identification of variety specific markers and genetic diversity analysis. Identification of diverse parents based on cluster analysis can be effectively done with EST-SSR as the genetic similarity estimates are based on functional attributes related to

  8. [Analysis of literature citations in original articles published in Spanish and international nursing journals and journals in 2 closely related disciplines]. (United States)

    Muñoz-Soler, Verónica; Flores-López, María José; Cabañero-Martínez, María José; Richart-Martínez, Miguel


    To compare Spanish nursing journals with 2 English-language standard journals, as well as Spanish journals in closely related disciplines, to identify possible quantitative and qualitative shortcomings in scientific documentation. We performed a descriptive, cross-sectional study of the references contained in 796 articles from 6 Spanish journals from 3 health disciplines (2000-2002) and 2 English-language nursing journals (2000-2001). The number of references, type of publication cited, and language of the document cited were compared in individual journals, and in journals grouped by discipline and according to language. Spanish-language nursing journals had the lowest mean number of references per article (X- = 16.20) when compared with psychology journals (X- = 31.24), medical journals (X- = 31.39) and international nursing journals (X- = 37.11). Among Spanish journals, citation of English-language publications was most frequent in medical journals (X- = 26.28) and least frequent in nursing journals (X- = 6.04). In contrast, citation of Spanish documents was most frequent in nursing journals (X- = 9.79) and least frequent in medical journals (X- = 4.43). Although scientific publication of Spanish nursing has improved, it is not comparable to publication of closely related disciplines and international nursing. The low citation of English documents clearly reveals the risk of scientific insularity.

  9. Genomics of Sponge-Associated Streptomyces spp. Closely Related to Streptomyces albus J1074: Insights into Marine Adaptation and Secondary Metabolite Biosynthesis Potential (United States)

    Ian, Elena; Malko, Dmitry B.; Sekurova, Olga N.; Bredholt, Harald; Rückert, Christian; Borisova, Marina E.; Albersmeier, Andreas; Kalinowski, Jörn; Gelfand, Mikhail S.; Zotchev, Sergey B.


    A total of 74 actinomycete isolates were cultivated from two marine sponges, Geodia barretti and Phakellia ventilabrum collected at the same spot at the bottom of the Trondheim fjord (Norway). Phylogenetic analyses of sponge-associated actinomycetes based on the 16S rRNA gene sequences demonstrated the presence of species belonging to the genera Streptomyces, Nocardiopsis, Rhodococcus, Pseudonocardia and Micromonospora. Most isolates required sea water for growth, suggesting them being adapted to the marine environment. Phylogenetic analysis of Streptomyces spp. revealed two isolates that originated from different sponges and had 99.7% identity in their 16S rRNA gene sequences, indicating that they represent very closely related strains. Sequencing, annotation, and analyses of the genomes of these Streptomyces isolates demonstrated that they are sister organisms closely related to terrestrial Streptomyces albus J1074. Unlike S. albus J1074, the two sponge streptomycetes grew and differentiated faster on the medium containing sea water. Comparative genomics revealed several genes presumably responsible for partial marine adaptation of these isolates. Genome mining targeted to secondary metabolite biosynthesis gene clusters identified several of those, which were not present in S. albus J1074, and likely to have been retained from a common ancestor, or acquired from other actinomycetes. Certain genes and gene clusters were shown to be differentially acquired or lost, supporting the hypothesis of divergent evolution of the two Streptomyces species in different sponge hosts. PMID:24819608

  10. Genetic disorders of transporters/channels in the inner ear and their relation to the kidney.

    NARCIS (Netherlands)

    Peters, T.A.; Monnens, L.A.H.; Cremers, C.W.R.J.; Curfs, J.H.A.J.


    Inner ear physiology is reviewed with emphasis on features common to renal physiology. Genetic disorders in transporters/channels for chloride (ClC-K), bicarbonate (Cl(-)/HCO(3)(-) exchanger), protons (H(+)-ATPase), sodium (ENaC, NKKC1, NBC3, NHE3), potassium (KCNQ1/KCNE1, Kcc4), and water (AQP4) in

  11. The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

    Czech Academy of Sciences Publication Activity Database

    Ng, Y. S.; Alston, Ch. L.; Diodato, D.; Morris, A. A.; Ulrick, N.; Kmoch, S.; Houštěk, Josef; Martinelli, D.; Haghighi, A.; Atiq, M.; Gamero, M. A.; Garcia-Martinez, E.; Kratochvílová, H.; Santra, S.; Brown, R. M.; Brown, G. K.; Ragge, N.; Monavari, A.; Pysden, K.; Ravn, K.; Casey, J. P.; Khan, A.; Chakrapani, A.; Vassallo, G.; Simons, C.; McKeever, K.; O´Sullivan, S.; Childs, A.-M.; Ostergaard, E.; Vanderver, A.; Goldstein, A.; Vogt, J.; Taylor, R. W.; McFarland, R.


    Roč. 53, č. 11 (2016), s. 768-775 ISSN 0022-2593 R&D Projects: GA ČR(CZ) GB14-36804G Institutional support: RVO:67985823 Keywords : congenital sensorineural deafness * lactic acidosis * mitochondrial respiratory chain deficiencies * prognosis * renal disease Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 5.451, year: 2016

  12. Genetic Analysis of Health-Related Secondary Metabolites in a Brassica rapa Recombinant Inbred Line Population

    NARCIS (Netherlands)

    Bagheri, H.; Soda, El M.; Kim, H.K.; Fritsche, S.; Jung, C.; Aarts, M.G.M.


    The genetic basis of the wide variation for nutritional traits in Brassica rapa is largely unknown. A new Recombinant Inbred Line (RIL) population was profiled using High Performance Liquid Chromatography (HPLC) and Nuclear Magnetic Resonance (NMR) analysis to detect quantitative trait loci (QTLs)

  13. Proteomic studies related to genetic determinants of variability in protein concentrations

    NARCIS (Netherlands)

    Horvatovich, Peter; Franke, Lude; Bischoff, Rainer


    Genetic variation has multiple effects on the proteome. It may influence the expression level of proteins, modify their sequences through single nucleotide polymorphisms, the occurrence of allelic variants, or alternative splicing (ASP) events. This perspective paper summarizes the major effects of

  14. Ethics or Morals: Understanding Students' Values Related to Genetic Tests on Humans (United States)

    Lindahl, Mats Gunnar


    To make meaning of scientific knowledge in such a way that concepts and values of the life-world are not threatened is difficult for students and laymen. Ethics and morals pertaining to the use of genetic tests for hereditary diseases have been investigated and discussed by educators, anthropologists, medical doctors and philosophers giving, at…

  15. Stable Genetic Influence on Anxiety-Related Behaviours across Middle Childhood (United States)

    Trzaskowski, Maciej; Zavos, Helena M. S.; Haworth, Claire M. A.; Plomin, Robert; Eley, Thalia C.


    We examined the aetiology of anxiety symptoms in an unselected population at ages 7 and 9, a period during which anxiety disorders first begin to develop (mean age at onset is 11 years). Specifically, the aim of the study was to investigate genetic and environmental continuity and change in components of anxiety in middle childhood. Parents of…

  16. Assessment of the food safety issues related to genetically modified foods

    NARCIS (Netherlands)

    Kuiper, H.A.; Kleter, G.A.; Noteborn, H.P.J.M.; Kok, E.J.


    International consensus has been reached on the principles regarding evaluation of the food safety of genetically modified plants. The concept of substantial equivalence has been developed as part of a safety evaluation framework, based on the idea that existing foods can serve as a basis for

  17. From Precaution to Peril: Public Relations Across Forty Years of Genetic Engineering. (United States)

    Hogan, Andrew J


    The Asilomar conference on genetic engineering in 1975 has long been pointed to by scientists as a model for internal regulation and public engagement. In 2015, the organizers of the International Summit on Human Gene Editing in Washington, DC looked to Asilomar as they sought to address the implications of the new CRISPR gene editing technique. Like at Asilomar, the conveners chose to limit the discussion to a narrow set of potential CRISPR applications, involving inheritable human genome editing. The adoption by scientists in 2015 of an Asilomar-like script for discussing genetic engineering offers historians the opportunity to analyze the adjustments that have been made since 1975, and to identify the blind spots that remain in public engagement. Scientists did take important lessons from the fallout of their limited engagement with public concerns at Asilomar. Nonetheless, the scientific community has continued to overlook some of the longstanding public concerns about genetic engineering, in particular the broad and often covert genetic modification of food products. Copyright © 2016 Elsevier Ltd. All rights reserved.

  18. A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

    Directory of Open Access Journals (Sweden)

    Sanjeev Rajakulendran

    Full Text Available Mutations in the nuclear gene POL