WorldWideScience

Sample records for heritable translocations produced

  1. Dominant-lethal mutations and heritable translocations in mice

    Energy Technology Data Exchange (ETDEWEB)

    Generoso, W.M.

    1983-01-01

    Chromosome aberrations are a major component of radiation or chemically induced genetic damage in mammalian germ cells. The types of aberration produced are dependent upon the mutagen used and the germ-cell stage treated. For example, in male meiotic and postmeiotic germ cells certain alkylating chemicals induce both dominant-lethal mutations and heritable translocations while others induce primarily dominant-lethal mutations. Production of these two endpoints appears to be determined by the stability of alkylation products with the chromosomes. If the reaction products are intact in the male chromosomes at the time of sperm entry, they may be repaired in fertilized eggs. If repair is not effected and the alkylation products persist to the time of pronuclear chromosome replication, they lead to chromatid-type aberrations and eventually to dominant-lethality. The production of heritable translocations, on the other hand, requires a transformation of unstable alkylation products into suitable intermediate lesions. The process by which these lesions are converted into chromosome exchange within the male genome takes place after sperm enters the egg but prior to the time of pronuclear chromosome replication (i.e., chromosome-type). Thus, dominant-lethal mutations result from both chromatid- and chromosome-type aberrations while heritable translocations result primarily from the latter type. DNA target sites associated with the production of these two endpoints are discussed.

  2. 40 CFR 798.5955 - Heritable translocation test in drosophila melanogaster.

    Science.gov (United States)

    2010-07-01

    ... drosophila melanogaster. 798.5955 Section 798.5955 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY....5955 Heritable translocation test in drosophila melanogaster. (a) Purpose. The heritable translocation test in Drosophila measures the induction of chromosomal translocations in germ cells of insects...

  3. 40 CFR 798.5460 - Rodent heritable translocation assays.

    Science.gov (United States)

    2010-07-01

    ... SUBSTANCES CONTROL ACT (CONTINUED) HEALTH EFFECTS TESTING GUIDELINES Genetic Toxicity § 798.5460 Rodent... fertile animals for cytological confirmation as translocation heterozygotes. (3) Animal selection—(i... animals shall be used. (iii) Number. (A) The number of male animals necessary is determined by the...

  4. TALEN-mediated targeted mutagenesis produces a large variety of heritable mutations in rice.

    Science.gov (United States)

    Zhang, Hui; Gou, Feng; Zhang, Jinshan; Liu, Wenshan; Li, Qianqian; Mao, Yanfei; Botella, José Ramón; Zhu, Jian-Kang

    2016-01-01

    CRISPR/Cas9 and TALEN are currently the two systems of choice for genome editing. We have studied the efficiency of the TALEN system in rice as well as the nature and inheritability of TALEN-induced mutations and found important features of this technology. The N287C230 TALEN backbone resulted in low mutation rates (0-6.6%), but truncations in its C-terminal domain dramatically increased efficiency to 25%. In most transgenic T0 plants, TALEN produced a single prevalent mutation accompanied by a variety of low-frequency mutations. For each independent T0 plant, the prevalent mutation was present in most tissues within a single tiller as well as in all tillers examined, suggesting that TALEN-induced mutations occurred very early in the development of the shoot apical meristem. Multigenerational analysis showed that TALEN-induced mutations were stably transmitted to the T1 and T2 populations in a normal Mendelian fashion. In our study, the vast majority of TALEN-induced mutations (~81%) affected multiple bases and ~70% of them were deletions. Our results contrast with published reports for the CRISPR/Cas9 system in rice, in which the predominant mutations affected single bases and deletions accounted for only 3.3% of the overall mutations. © 2015 Society for Experimental Biology, Association of Applied Biologists and John Wiley & Sons Ltd.

  5. Heritability of antisocial behaviour

    NARCIS (Netherlands)

    Kretschmer, Tina; DeLisi, Matt

    2016-01-01

    This chapter reviews important strands of research on the heritability of antisocial behavior and crime, including both quantitative genetic studies using twin or adoption designs as well as molecular genetic approaches. Study designs are introduced and findings discussed. Contemporary avenues

  6. Selected Lactic Acid-Producing Bacterial Isolates with the Capacity to Reduce Salmonella Translocation and Virulence Gene Expression in Chickens

    OpenAIRE

    Xiaojian Yang; Jennifer Brisbin; Hai Yu; Qi Wang; Fugui Yin; Yonggang Zhang; Parviz Sabour; Shayan Sharif; Joshua Gong

    2014-01-01

    BACKGROUND: Probiotics have been used to control Salmonella colonization/infection in chickens. Yet the mechanisms of probiotic effects are not fully understood. This study has characterized our previously-selected lactic acid-producing bacterial (LAB) isolates for controlling Salmonella infection in chickens, particularly the mechanism underlying the control. METHODOLOGY/PRINCIPAL FINDINGS: In vitro studies were conducted to characterize 14 LAB isolates for their tolerance to low pH (2.0) an...

  7. Selected lactic acid-producing bacterial isolates with the capacity to reduce Salmonella translocation and virulence gene expression in chickens.

    Science.gov (United States)

    Yang, Xiaojian; Brisbin, Jennifer; Yu, Hai; Wang, Qi; Yin, Fugui; Zhang, Yonggang; Sabour, Parviz; Sharif, Shayan; Gong, Joshua

    2014-01-01

    Probiotics have been used to control Salmonella colonization/infection in chickens. Yet the mechanisms of probiotic effects are not fully understood. This study has characterized our previously-selected lactic acid-producing bacterial (LAB) isolates for controlling Salmonella infection in chickens, particularly the mechanism underlying the control. In vitro studies were conducted to characterize 14 LAB isolates for their tolerance to low pH (2.0) and high bile salt (0.3-1.5%) and susceptibility to antibiotics. Three chicken infection trials were subsequently carried out to evaluate four of the isolates for reducing the burden of Salmonella enterica serovar Typhimurium in the broiler cecum. Chicks were gavaged with LAB cultures (10(6-7) CFU/chick) or phosphate-buffered saline (PBS) at 1 day of age followed by Salmonella challenge (10(4) CFU/chick) next day. Samples of cecal digesta, spleen, and liver were examined for Salmonella counts on days 1, 3, or 4 post-challenge. Salmonella in the cecum from Trial 3 was also assessed for the expression of ten virulence genes located in its pathogenicity island-1 (SPI-1). These genes play a role in Salmonella intestinal invasion. Tested LAB isolates (individuals or mixed cultures) were unable to lower Salmonella burden in the chicken cecum, but able to attenuate Salmonella infection in the spleen and liver. The LAB treatments also reduced almost all SPI-1 virulence gene expression (9 out of 10) in the chicken cecum, particularly at the low dose. In vitro treatment with the extracellular culture fluid from a LAB culture also down-regulated most SPI-1 virulence gene expression. The possible correlation between attenuation of Salmonella infection in the chicken spleen and liver and reduction of Salmonella SPI-1 virulence gene expression in the chicken cecum by LAB isolates is a new observation. Suppression of Salmonella virulence gene expression in vivo can be one of the strategies for controlling Salmonella infection in chickens.

  8. Selected lactic acid-producing bacterial isolates with the capacity to reduce Salmonella translocation and virulence gene expression in chickens.

    Directory of Open Access Journals (Sweden)

    Xiaojian Yang

    Full Text Available BACKGROUND: Probiotics have been used to control Salmonella colonization/infection in chickens. Yet the mechanisms of probiotic effects are not fully understood. This study has characterized our previously-selected lactic acid-producing bacterial (LAB isolates for controlling Salmonella infection in chickens, particularly the mechanism underlying the control. METHODOLOGY/PRINCIPAL FINDINGS: In vitro studies were conducted to characterize 14 LAB isolates for their tolerance to low pH (2.0 and high bile salt (0.3-1.5% and susceptibility to antibiotics. Three chicken infection trials were subsequently carried out to evaluate four of the isolates for reducing the burden of Salmonella enterica serovar Typhimurium in the broiler cecum. Chicks were gavaged with LAB cultures (10(6-7 CFU/chick or phosphate-buffered saline (PBS at 1 day of age followed by Salmonella challenge (10(4 CFU/chick next day. Samples of cecal digesta, spleen, and liver were examined for Salmonella counts on days 1, 3, or 4 post-challenge. Salmonella in the cecum from Trial 3 was also assessed for the expression of ten virulence genes located in its pathogenicity island-1 (SPI-1. These genes play a role in Salmonella intestinal invasion. Tested LAB isolates (individuals or mixed cultures were unable to lower Salmonella burden in the chicken cecum, but able to attenuate Salmonella infection in the spleen and liver. The LAB treatments also reduced almost all SPI-1 virulence gene expression (9 out of 10 in the chicken cecum, particularly at the low dose. In vitro treatment with the extracellular culture fluid from a LAB culture also down-regulated most SPI-1 virulence gene expression. CONCLUSIONS/SIGNIFICANCE: The possible correlation between attenuation of Salmonella infection in the chicken spleen and liver and reduction of Salmonella SPI-1 virulence gene expression in the chicken cecum by LAB isolates is a new observation. Suppression of Salmonella virulence gene expression in

  9. Heritability of caffeine metabolism

    DEFF Research Database (Denmark)

    Matthaei, Johannes; Tzvetkov, Mladen V; Strube, Jakob

    2016-01-01

    Heritability of caffeine pharmacokinetics and CYP1A2 activity is controversial. Here we analyzed the pharmacokinetics of caffeine, an in vivo probe drug for CYP1A2 and arylamine N-acetyltransferase 2 (NAT2) activity, in monozygotic and dizygotic twins. In the entire group, common and unique envir...

  10. The heritability of perceived stress.

    NARCIS (Netherlands)

    Federenko, I.S.; Schlotz, W.; Kirschbaum, C.; Bartels, M.; Hellhammer, D.H.; Wüst, S.

    2006-01-01

    Background. Exploration of the degree to which perceived chronic stress is heritable is important as these self-reports have been linked to stress-related health outcomes. The aims of this study were to estimate whether perceived stress is a heritable condition and to assess whether heritability

  11. Robertsonian translocations

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1993-12-31

    Chapter 27, describes the occurrence of Robertsonian translocations (RTs), which refer to the recombination of whole chromosome arms, in both monocentric and dicentric chromosomes. The nonrandom participation of acrocentric chromosomes in RTs is documented by various methods, including unbiased ascertainment and ascertainment through trisomy, infertility, unspecified mental retardation, and Prader-Willi syndrome. Causes of nonrandom participation of chromosomes in RTs is presented, as are the following topics: segregation in carriers of RTs and segregation in sperm cells of RT carriers, interchromosomal effects and conclusions. 48 refs., 3 figs., 2 tabs.

  12. Heritability of attractiveness to mosquitoes.

    Science.gov (United States)

    Fernández-Grandon, G Mandela; Gezan, Salvador A; Armour, John A L; Pickett, John A; Logan, James G

    2015-01-01

    Female mosquitoes display preferences for certain individuals over others, which is determined by differences in volatile chemicals produced by the human body and detected by mosquitoes. Body odour can be controlled genetically but the existence of a genetic basis for differential attraction to insects has never been formally demonstrated. This study investigated heritability of attractiveness to mosquitoes by evaluating the response of Aedes aegypti (=Stegomyia aegypti) mosquitoes to odours from the hands of identical and non-identical twins in a dual-choice assay. Volatiles from individuals in an identical twin pair showed a high correlation in attractiveness to mosquitoes, while non-identical twin pairs showed a significantly lower correlation. Overall, there was a strong narrow-sense heritability of 0.62 (SE 0.124) for relative attraction and 0.67 (0.354) for flight activity based on the average of ten measurements. The results demonstrate an underlying genetic component detectable by mosquitoes through olfaction. Understanding the genetic basis for attractiveness could create a more informed approach to repellent development.

  13. Heritability of attractiveness to mosquitoes.

    Directory of Open Access Journals (Sweden)

    G Mandela Fernández-Grandon

    Full Text Available Female mosquitoes display preferences for certain individuals over others, which is determined by differences in volatile chemicals produced by the human body and detected by mosquitoes. Body odour can be controlled genetically but the existence of a genetic basis for differential attraction to insects has never been formally demonstrated. This study investigated heritability of attractiveness to mosquitoes by evaluating the response of Aedes aegypti (=Stegomyia aegypti mosquitoes to odours from the hands of identical and non-identical twins in a dual-choice assay. Volatiles from individuals in an identical twin pair showed a high correlation in attractiveness to mosquitoes, while non-identical twin pairs showed a significantly lower correlation. Overall, there was a strong narrow-sense heritability of 0.62 (SE 0.124 for relative attraction and 0.67 (0.354 for flight activity based on the average of ten measurements. The results demonstrate an underlying genetic component detectable by mosquitoes through olfaction. Understanding the genetic basis for attractiveness could create a more informed approach to repellent development.

  14. Knockdown of MAP4 and DNAL1 produces a post-fusion and pre-nuclear translocation impairment in HIV-1 replication

    Energy Technology Data Exchange (ETDEWEB)

    Gallo, Daniel E., E-mail: d-gallo@northwestern.edu; Hope, Thomas J., E-mail: thope@northwestern.edu

    2012-01-05

    DNAL1 and MAP4 are both microtubule-associated proteins. These proteins were identified as HIV-1 dependency factors in a screen with wild-type HIV-1. In this study we demonstrate that knockdown using DNAL1 and MAP4 siRNAs and shRNAs inhibits HIV-1 infection regardless of envelope. Using a fusion assay, we show that DNAL1 and MAP4 do not impact fusion. By assaying for late reverse transcripts and 2-LTR circles, we show that DNAL1 and MAP4 inhibit both by approximately 50%. These results demonstrate that DNAL1 and MAP4 impact reverse transcription but not nuclear translocation. DNAL1 and MAP4 knockdown cells do not display cytoskeletal defects. Together these experiments indicate that DNAL1 and MAP4 may exert their functions in the HIV life cycle at reverse transcription, prior to nuclear translocation.

  15. 8Wambi heritability.pmd

    African Journals Online (AJOL)

    ACSS

    as a percentage of the mean (GAM) and heritability were estimated using variance components. Phenotypic. Coefficient of Variation ... exhibited moderate GCV values. Broad and narrow sense heritability estimates for GRD disease score ..... in some faba bean genotypes (Vicia faba L.) grown in Northwestern Ethiopia.

  16. Heritability of neck pain

    DEFF Research Database (Denmark)

    Fejer, R; Hartvigsen, J; Kyvik, K O

    2006-01-01

    OBJECTIVES: To determine the heritability of neck pain in a large population-based study of twins. METHODS: Data on lifetime prevalence of neck pain from a population-based cross-sectional survey of Danish twins were used. To assess twin similarity, the probandwise concordance rates, zygosity......-specific odds ratios and tetrachoric correlations were calculated and compared for monozygotic and dizygotic twins. Using biometric modelling (structural equation modelling), the genetic and environmental contributions of the liability to neck pain were estimated. RESULTS: A total of 33,794 twins (response rate...... 73%) answered the questions regarding neck pain. Probandwise concordance rates, zygosity-specific odds ratios and tetrachoric correlations showed a significant genetic effect on neck pain. An overall additive genetic component of 44% was found. The genetic effect decreased with age, accounting...

  17. Heritable Disorders of Connective Tissue

    Science.gov (United States)

    ... rare. Common heritable disorders of connective tissue include: Ehlers-Danlos syndrome mostly affects the skin and joints. Connective ... of America, Inc. Website: https://www.debra.org Ehlers-Danlos National Foundation Website: https://www.ednf.org/ National ...

  18. Pregnancy failure and heritable thrombophilia

    NARCIS (Netherlands)

    Middeldorp, Saskia

    2007-01-01

    Heritable thrombophilia is associated with an increased risk for pregnancy failure, defined as sporadic and recurrent miscarriage, late fetal loss, and other vascular pregnancy complications such as preeclampsia and intrauterine growth retardation. The pathogenesis is likely to include effects on

  19. Heritable change caused by transient transcription errors.

    Directory of Open Access Journals (Sweden)

    Alasdair J E Gordon

    2013-06-01

    Full Text Available Transmission of cellular identity relies on the faithful transfer of information from the mother to the daughter cell. This process includes accurate replication of the DNA, but also the correct propagation of regulatory programs responsible for cellular identity. Errors in DNA replication (mutations and protein conformation (prions can trigger stable phenotypic changes and cause human disease, yet the ability of transient transcriptional errors to produce heritable phenotypic change ('epimutations' remains an open question. Here, we demonstrate that transcriptional errors made specifically in the mRNA encoding a transcription factor can promote heritable phenotypic change by reprogramming a transcriptional network, without altering DNA. We have harnessed the classical bistable switch in the lac operon, a memory-module, to capture the consequences of transient transcription errors in living Escherichia coli cells. We engineered an error-prone transcription sequence (A9 run in the gene encoding the lac repressor and show that this 'slippery' sequence directly increases epigenetic switching, not mutation in the cell population. Therefore, one altered transcript within a multi-generational series of many error-free transcripts can cause long-term phenotypic consequences. Thus, like DNA mutations, transcriptional epimutations can instigate heritable changes that increase phenotypic diversity, which drives both evolution and disease.

  20. Heritability in inflammatory bowel disease

    DEFF Research Database (Denmark)

    Gordon, Hannah; Trier Moller, Frederik; Andersen, Vibeke

    2015-01-01

    estimation regard genetic and environmental variance as separate entities, although it is now understood that there is a complex multidirectional interplay between genetic are environmental factors mediated by the microbiota, the epigenome, and the innate and acquired immune systems. Due to the limitations...... of heritability estimates, it is unlikely that a true value for heritability will be reached. Further work aimed at quantifying the variance explained across GWAS, epigenome-wide, and microbiota-wide association studies will help to define factors leading to inflammatory bowel disease....

  1. Heritability of MMPI-2 scales in the UCSF family alcoholism study.

    Science.gov (United States)

    Gizer, Ian R; Seaton-Smith, Kimberley L; Ehlers, Cindy L; Vieten, Cassandra; Wilhelmsen, Kirk C

    2010-01-01

    The current study evaluated the heritability of personality traits and psychopathology symptoms assessed by the Minnesota Multiphasic Personality Inventory 2nd Edition (MMPI-2) in a family-based sample selected for alcohol dependence. Participants included 950 probands and 1,204 first-degree relatives recruited for the University of California at San Francisco (UCSF) Family Alcoholism Study. Heritability estimates for MMPI-2 scales ranged from .25 to .49. When alcohol dependence was used as a covariate, heritability estimates remained significant but generally declined. However, when the MMPI-2 scales were used as covariates to estimate the heritability of alcohol dependence, the scales measuring antisocial behavior, depressive symptoms, and addictive behavior led to moderate increases in the heritability of alcohol dependence. This suggests that the scales may explain some of the non-genetic variance in the alcohol dependence diagnosis in this population when used as covariates, and thus may serve to produce a more homogeneous and heritable alcohol-dependence phenotype.

  2. Paramutation: Heritable in trans effects

    NARCIS (Netherlands)

    Stam, M.; Louwers, M.; Bennetzen, J.L.; Hake, S.

    2009-01-01

    Paramutation is the heritable transfer of epigenetic information from one allele of a gene to another allele of the same gene. In general, the consequence of this trans-communication is a change in gene expression. Paramutation has been observed in plants, fungi and mammals, but is most extensively

  3. Heritability and familial aggregation of diverticular disease

    DEFF Research Database (Denmark)

    Strate, Lisa L; Erichsen, Rune; Baron, John A

    2013-01-01

    Little is known about the role of heritable factors in diverticular disease. We evaluated the contribution of heritable factors to the development of diverticular disease diagnosed at a hospitalization or outpatient visit.......Little is known about the role of heritable factors in diverticular disease. We evaluated the contribution of heritable factors to the development of diverticular disease diagnosed at a hospitalization or outpatient visit....

  4. Genetic Variability, Heritability and Genetic Advance for the ...

    African Journals Online (AJOL)

    Sesame (Sesamum indicum L.) is an important crop produced in Ethiopia for oilseed production and it ranks first in total production from oil crops. a study was conducted to determine the extent of genetic variability, heritability and genetic advance among 64 sesame populations from Ethiopia. The populations were grown in ...

  5. Physiology in conservation translocations

    Science.gov (United States)

    Tarszisz, Esther; Dickman, Christopher R.; Munn, Adam J.

    2014-01-01

    Conservation translocations aim to restore species to their indigenous ranges, protect populations from threats and/or reinstate ecosystem functions. They are particularly important for the conservation and management of rare and threatened species. Despite tremendous efforts and advancement in recent years, animal conservation translocations generally have variable success, and the reasons for this are often uncertain. We suggest that when little is known about the physiology and wellbeing of individuals either before or after release, it will be difficult to determine their likelihood of survival, and this could limit advancements in the science of translocations for conservation. In this regard, we argue that physiology offers novel approaches that could substantially improve translocations and associated practices. As a discipline, it is apparent that physiology may be undervalued, perhaps because of the invasive nature of some physiological measurement techniques (e.g. sampling body fluids, surgical implantation). We examined 232 publications that dealt with translocations of terrestrial vertebrates and aquatic mammals and, defining ‘success’ as high or low, determined how many of these studies explicitly incorporated physiological aspects into their protocols and monitoring. From this review, it is apparent that physiological evaluation before and after animal releases could progress and improve translocation/reintroduction successes. We propose a suite of physiological measures, in addition to animal health indices, for assisting conservation translocations over the short term and also for longer term post-release monitoring. Perhaps most importantly, we argue that the incorporation of physiological assessments of animals at all stages of translocation can have important welfare implications by helping to reduce the total number of animals used. Physiological indicators can also help to refine conservation translocation methods. These approaches fall

  6. Heritability of chronic venous disease

    OpenAIRE

    Fiebig, Andreas; Krusche, Petra; De Wolf, Andreas; Krawczak, Michael; Timm, Birgitt; Nikolaus, Susanna; Frings, Norbert; Schreiber, Stefan

    2010-01-01

    Varicose veins without skin changes have a prevalence of approximately 20% in Northern and Western Europe whereas advanced chronic venous insufficiency affects about 3% of the population. Genetic risk factors are thought to play an important role in the aetiology of both these chronic venous diseases (CVD). We evaluated the relative genetic and environmental impact upon CVD risk by estimating the heritability of the disease in 4,033 nuclear families, comprising 16,434 individuals from all ove...

  7. Heritability of chronic venous disease

    Science.gov (United States)

    Krusche, Petra; Wolf, Andreas; Krawczak, Michael; Timm, Birgitt; Nikolaus, Susanna; Frings, Norbert; Schreiber, Stefan

    2010-01-01

    Varicose veins without skin changes have a prevalence of approximately 20% in Northern and Western Europe whereas advanced chronic venous insufficiency affects about 3% of the population. Genetic risk factors are thought to play an important role in the aetiology of both these chronic venous diseases (CVD). We evaluated the relative genetic and environmental impact upon CVD risk by estimating the heritability of the disease in 4,033 nuclear families, comprising 16,434 individuals from all over Germany. Upon clinical examination, patients were classified according to the CEAP guidelines as either C2 (simple varicose veins), C3 (oedema), C4 (skin changes without ulceration), C5 (healed ulceration), or C6 (active ulcers). The narrow-sense heritability (h2) of CVD equals 17.3% (standard error 2.5%, likelihood ratio test P = 1.4 × 10−13). The proportion of disease risk attributable to age (at ascertainment) and sex, the two main risk factors for CVD, was estimated as 10.7% (Kullback–Leibler deviance R2). The heritability of CVD is high, thereby suggesting a notable genetic component in the aetiology of the disease. Systematic population-based searches for CVD susceptibility genes are therefore warranted. PMID:20354728

  8. Epigenetic variation, phenotypic heritability, and evolution

    DEFF Research Database (Denmark)

    Furrow, Robert E.; Christiansen, Freddy Bugge; Feldman, Marcus W.

    2014-01-01

    Familial aggregation of complex diseases may have many causes in addition to and apart from genetic predisposition due to common ancestry. For example, exposure to an environment that induces susceptibility to a disease may produce similar familial aggregations when the environment is shared...... by family members. In general, according to the principles of (Johannsen 1903), the emergence of a disease phenotype is the result of the combined effects of the genotype of the individual and the environment that it experiences during development. The heritability of a disease is a measure of familial...... of evolution. Darwin’s inspiration originated from the practical use of family resemblance in animal breeding. Animal breeders have long known that a major obstacle to progress in genetic improvement is the interaction between familial aggregation of environments and the effects of similar genetics within...

  9. The heritability of blood donation

    DEFF Research Database (Denmark)

    Pedersen, Ole Birger; Axel, Skytthe; Rostgaard, Klaus

    2015-01-01

    BACKGROUND: Voluntary blood donation is believed to be mostly motivated by altruism. Because studies have suggested that altruistic personality is determined by both genetic and environmental factors, we speculated that willingness to donate blood could also be governed by constitutional factors...... active Danish blood donors from 2002 to 2012, to establish blood donor status for Danish twins, who at age 17 years became eligible for donation in 2002 or later. Casewise concordance in monozygotic (MZ) and dizygotic (DZ) twins were presented and heritability was estimated in Mx by variance component...... to donate blood, respectively. CONCLUSION: Becoming a volunteer blood donor is determined by both genetic and environmental factors shared within families....

  10. variation, correlation and heritability of interest characters

    African Journals Online (AJOL)

    ACSS

    2016-05-17

    May 17, 2016 ... The objective of this study was to determine genetic variability, strength of association and level of heritability among agronomic interest traits. Phenotypic and genotypic variations and heritability of 14 traits were estimated in 61 accessions at Institut de Développement Rural (IDR), Gampela in Burkina Faso ...

  11. Heritability estimates derived from threshold analyses for ...

    African Journals Online (AJOL)

    Heritability estimates derived from threshold analyses for reproduction and stayability traits in a beef cattle herd. ... South African Journal of Animal Science ... The object of this study was to estimate heritabilities and sire breeding values for stayability and reproductive traits in a composite multibreed beef cattle herd using a ...

  12. Heritability estimates derived from threshold analyses for ...

    African Journals Online (AJOL)

    Unknown

    Abstract. The object of this study was to estimate heritabilities and sire breeding values for stayability and reproductive traits in a composite multibreed beef cattle herd using a threshold model. A GFCAT set of programmes was used to analyse reproductive data. Heritabilities and product-moment correlations between.

  13. The heritability of leucocyte telomere length dynamics

    DEFF Research Database (Denmark)

    Hjelmborg, Jacob B; Dalgård, Christine; Möller, Sören

    2015-01-01

    BACKGROUND: Leucocyte telomere length (LTL) is a complex trait associated with ageing and longevity. LTL dynamics are defined by LTL and its age-dependent attrition. Strong, but indirect evidence suggests that LTL at birth and its attrition during childhood largely explains interindividual LTL...... variation among adults. A number of studies have estimated the heritability of LTL, but none has assessed the heritability of age-dependent LTL attrition. METHODS: We examined the heritability of LTL dynamics based on a longitudinal evaluation (an average follow-up of 12 years) in 355 monozygotic and 297...... dizygotic same-sex twins (aged 19-64 years at baseline). RESULTS: Heritability of LTL at baseline was estimated at 64% (95% CI 39% to 83%) with 22% (95% CI 6% to 49%) of shared environmental effects. Heritability of age-dependent LTL attrition rate was estimated at 28% (95% CI 16% to 44%). Individually...

  14. Marker-Based Estimation of Heritability in Immortal Populations

    Science.gov (United States)

    Kruijer, Willem; Boer, Martin P.; Malosetti, Marcos; Flood, Pádraic J.; Engel, Bas; Kooke, Rik; Keurentjes, Joost J. B.; van Eeuwijk, Fred A.

    2015-01-01

    Heritability is a central parameter in quantitative genetics, from both an evolutionary and a breeding perspective. For plant traits heritability is traditionally estimated by comparing within- and between-genotype variability. This approach estimates broad-sense heritability and does not account for different genetic relatedness. With the availability of high-density markers there is growing interest in marker-based estimates of narrow-sense heritability, using mixed models in which genetic relatedness is estimated from genetic markers. Such estimates have received much attention in human genetics but are rarely reported for plant traits. A major obstacle is that current methodology and software assume a single phenotypic value per genotype, hence requiring genotypic means. An alternative that we propose here is to use mixed models at the individual plant or plot level. Using statistical arguments, simulations, and real data we investigate the feasibility of both approaches and how these affect genomic prediction with the best linear unbiased predictor and genome-wide association studies. Heritability estimates obtained from genotypic means had very large standard errors and were sometimes biologically unrealistic. Mixed models at the individual plant or plot level produced more realistic estimates, and for simulated traits standard errors were up to 13 times smaller. Genomic prediction was also improved by using these mixed models, with up to a 49% increase in accuracy. For genome-wide association studies on simulated traits, the use of individual plant data gave almost no increase in power. The new methodology is applicable to any complex trait where multiple replicates of individual genotypes can be scored. This includes important agronomic crops, as well as bacteria and fungi. PMID:25527288

  15. Oncogene Translocations and NHL

    Science.gov (United States)

    A colloboration with several large population-based cohorts to determine whether the prevalence or level of t14;18 is associated with risk of NHL and to investigate the clonal relationship between translocation-bearing cells and subsequent tumors

  16. Heritability of bipolar affective disorder: Family study

    Directory of Open Access Journals (Sweden)

    Obradović Tanja

    2011-01-01

    Full Text Available Background/Aim. Bipolar affective disorder is mental disorder with polygenic type of heredity. Heritability - relation between genetic and environmental variance is used to estimate the level of influence of genetic variance to phenotype variance. Study results show decreasing trend in the value of heritability of bipolar affective disorder, thus indicating that this disorder is a complex behavioral threshold characteristic. Therefore, the aim of this study was to estimate the contribution of genetic variance to phenotype variance of bipolar affective disorder, i.e. to estimate heritability of this disorder. Methods. By the use of a questionnaire, 80 patients with over crossed threshold for bipolar affective disorder were asked for functional information about the members of their families belonging to the first degree of relation (fathers, mothers and full- sibs. By using ”Applet for calculating heritability for threshold traits (disease“, and regression analysis, heritability of bipolar affective disorder as well as its statistical significance, were estimated (χ2 test. Results. Heritability and relationship of genetic and environmental variance of bipolar affective disorder is 0.2 with statistically significant difference from zero (p < 0.001. Conclusion. The estimated contribution of genetic variance to phenotype variance of bipolar affective disorder is low being 20%, while the contribution of environmental variance is 80%. This result contributes to the understanding of bipolar affective disorder as a complex behavioral threshold trait.

  17. Phenome-wide heritability analysis of the UK Biobank

    OpenAIRE

    Tian Ge; Chia-Yen Chen; Neale, Benjamin M; Sabuncu, Mert R.; Smoller, Jordan W.

    2017-01-01

    Heritability estimation provides important information about the relative contribution of genetic and environmental factors to phenotypic variation, and provides an upper bound for the utility of genetic risk prediction models. Recent technological and statistical advances have enabled the estimation of additive heritability attributable to common genetic variants (SNP heritability) across a broad phenotypic spectrum. Here, we present a computationally and memory efficient heritability estima...

  18. Short communication: Heritability of twinning rate in Holstein cattle.

    Science.gov (United States)

    Lett, Beth M; Kirkpatrick, Brian W

    2018-02-14

    Multiple births or twinning in cattle is a naturally occurring reproductive phenomenon. For dairy cattle, twinning is considered a detrimental trait as it can be harmful to cow and calf as well as costly to the producer. The objective of this study was to examine recent US calving records for the Holstein breed to determine a current estimate of heritability for twinning rate along with effects of season and parity. Two models were used in this study: a linear sire model and a binary threshold-logit sire model. Both were mixed models considering fixed effects and random effects. Analyses were conducted using a restricted maximum likelihood method. Heritability estimates were 0.0192 ± 0.0009 and 0.1420 ± 0.0069 for the linear and threshold models, respectively. Repeatabilities from the linear and threshold-logit models were 0.0443 ± 0.0012 and 0.2310 ± 0.0072, respectively. The nonzero estimates of heritability indicate the potential to select against this trait for genetic improvement of Holstein cattle. Copyright © 2018 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  19. Will Big Data Close the Missing Heritability Gap?

    Science.gov (United States)

    Kim, Hwasoon; Grueneberg, Alexander; Vazquez, Ana I; Hsu, Stephen; de Los Campos, Gustavo

    2017-11-01

    Despite the important discoveries reported by genome-wide association (GWA) studies, for most traits and diseases the prediction R-squared (R-sq.) achieved with genetic scores remains considerably lower than the trait heritability. Modern biobanks will soon deliver unprecedentedly large biomedical data sets: Will the advent of big data close the gap between the trait heritability and the proportion of variance that can be explained by a genomic predictor? We addressed this question using Bayesian methods and a data analysis approach that produces a surface response relating prediction R-sq. with sample size and model complexity (e.g., number of SNPs). We applied the methodology to data from the interim release of the UK Biobank. Focusing on human height as a model trait and using 80,000 records for model training, we achieved a prediction R-sq. in testing (n = 22,221) of 0.24 (95% C.I.: 0.23-0.25). Our estimates show that prediction R-sq. increases with sample size, reaching an estimated plateau at values that ranged from 0.1 to 0.37 for models using 500 and 50,000 (GWA-selected) SNPs, respectively. Soon much larger data sets will become available. Using the estimated surface response, we forecast that larger sample sizes will lead to further improvements in prediction R-sq. We conclude that big data will lead to a substantial reduction of the gap between trait heritability and the proportion of interindividual differences that can be explained with a genomic predictor. However, even with the power of big data, for complex traits we anticipate that the gap between prediction R-sq. and trait heritability will not be fully closed. Copyright © 2017 by the Genetics Society of America.

  20. Heritable and non-heritable genetic effects on retained placenta in Meuse-Rhine-Yssel cattle

    NARCIS (Netherlands)

    Benedictus, L.; Koets, A.P.; Kuijpers, F.H.J.; Joosten, I.; Eldik, van P.; Heuven, H.C.M.

    2013-01-01

    Failure of the timely expulsion of the fetal membranes, called retained placenta, leads to reduced fertility, increased veterinary costs and reduced milk yields. The objectives of this study were to concurrently look at the heritable and non-heritable genetic effects on retained placenta and test

  1. Heritability of Choroidal Thickness in the Amish.

    Science.gov (United States)

    Sardell, Rebecca J; Nittala, Muneeswar G; Adams, Larry D; Laux, Reneé A; Cooke Bailey, Jessica N; Fuzzell, Denise; Fuzzell, Sarada; Reinhart-Mercer, Lori; Caywood, Laura J; Horst, Violet; Mackay, Tine; Dana, Debbie; Sadda, SriniVas R; Scott, William K; Stambolian, Dwight; Haines, Jonathan L; Pericak-Vance, Margaret A

    2016-12-01

    To evaluate the heritability of choroidal thickness and its relationship to age-related macular degeneration (AMD). Cohort study. Six hundred eighty-nine individuals from Amish families with early or intermediate AMD. Ocular coherence tomography was used to quantify choroidal thickness, and fundus photography was used to classify eyes into categories using a modified Clinical Age-Related Maculopathy Staging (CARMS) system. Repeatability and heritability of choroidal thickness and its phenotypic and genetic correlations with the AMD phenotype (CARMS category) were estimated using a generalized linear mixed model (GLMM) approach that accounted for relatedness, repeated measures (left and right eyes), and the effects of age, gender, and refraction. Heritability of choroidal thickness and its phenotypic and genetic correlation with the AMD phenotype (CARMS category). Phenotypic correlation between choroidal thickness and CARMS category was moderate (Spearman's rank correlation, rs = -0.24; n = 1313 eyes) and significant (GLMM posterior mean, -4.27; 95% credible interval [CI], -7.88 to -0.79; P = 0.02) after controlling for relatedness, age, gender, and refraction. Eyes with advanced AMD had thinner choroids than eyes without AMD (posterior mean, -73.8; 95% CI, -94.7 to -54.6; P < 0.001; n = 1178 eyes). Choroidal thickness was highly repeatable within individuals (repeatability, 0.78; 95% CI, 0.68 to 0.89) and moderately heritable (heritability, 0.40; 95% CI, 0.14 to 0.51), but did not show significant genetic correlation with CARMS category, although the effect size was moderate (genetic correlation, -0.18; 95% CI, -0.49 to 0.16). Choroidal thickness also varied with age, gender, and refraction. The CARMS category showed moderate heritability (heritability, 0.49; 95% CI, 0.26 to 0.72). We quantify the heritability of choroidal thickness for the first time, highlighting a heritable, quantitative trait that is measurable in all individuals regardless of AMD

  2. variation, correlation and heritability of interest characters

    African Journals Online (AJOL)

    ACSS

    2016-05-17

    May 17, 2016 ... fruit weight, leaf blade length and width, and height at flowering. In addition, genetic and phenotypic variances were high for the number of seed, fruit weight, plant height at flowering and days to 50% flowering. High heritability estimates were recorded for all traits. Fruit weight showed a positive association ...

  3. Heritability of markers of bone metabolism

    Science.gov (United States)

    Smith, Scott M.; Zwart, S. R.; Hargens, A. R.

    2005-01-01

    Several classic twin studies show genetic effects on markers of bone health, including bone mineral density and parathyroid hormone (PTH). This study was performed to assess the relative contribution of genetics to biochemical markers of bone metabolism. Fifteen sets of identical twins (8 male, 7 female) were housed in a clinical research center where diet was controlled (15% protein, 55% carbohydrate, 30% fat) for 3 consecutive days. Each day, 24-h urine pools were collected and N-telopeptide (NTX), deoxypyridinoline (DPD), calcium, and serum PTH were measured. The broad-sense heritability factor (H2) is an estimation of the portion of the total variance of a given phenotype that is attributable to genetic variance. H2 was estimated from the correlation coefficient of the phenotype data. H2 for NTX was 94% for males and 80% for females, DPD was 88% for males and 97% for females, urinary calcium excretion was 97% for males and 90% for females, and PTH was 92% for males and 79% for females. Since environmental variability was minimized for the 3 days of data collection, these heritability factors are likely overestimated. Nonetheless, the data support the concept that PTH is a predominantly heritable trait, and suggest that NTX, DPD, and calcium excretion are as well. These biochemical data support the previously documented heritability of bone health.

  4. Dominance, epistasis, heritabilities and expected genetic gains

    Directory of Open Access Journals (Sweden)

    José Marcelo Soriano Viana

    2005-03-01

    Full Text Available Although epistasis is common in gene systems that determine quantitative traits, it is usually not possible to estimate the epistatic components of genotypic variance because experiments in breeding programs include only one type of progeny. As the study of this phenomenon is complex, there is a lack of theoretical knowledge on the contribution of the epistatic variances when predicting gains from selection and on the bias in estimating genetic parameters when fitting the additive-dominant model. The objective of this paper is to discuss these aspects. Regarding a non-inbred population, the genetic value due to dominance and the epistatic components of the genotypic value are not indicators of the number of favorable genes present in an individual. Thus, the efficiency of a selection process should be based on the narrow-sense heritability, a function only of additive variance. If there is no epistasis, generally it is satisfactory to assess the selection efficiency and to predict gain based on the broad-sense heritability. Regardless of the selection unit or type of epistasis, the bias in the estimate of the additive variance when assuming the additive-dominant model is considerable. This implies overestimation of the heritabilities at half sib family mean, plant within family and plant levels, and underestimation if the selection units are full sib progenies. The predicted gains will have a bias proportional to that of the heritability.

  5. Sex differences in heritability of neck Pain

    DEFF Research Database (Denmark)

    Fejer, René; Hartvigsen, Jan; Kyvik, Kirsten Ohm

    2006-01-01

    Experimental studies have suggested biological factors as a possible explanation for gender disparities in perception of pain. Recently, heritability of liability to neck pain (NP) has been found to be statistically significantly larger in women compared to men. However, no studies have been...

  6. IQ Heritability: A Checklist of Methodological Fallacies

    Science.gov (United States)

    Taylor, Howard F.

    1976-01-01

    Presents a brief, quick-reference check list of methodological errors, fallacies, mistakes, and instances of out-and-out trickery that are found in recent well-known studies of IQ, IQ heritability, and race differences, focusing primarily upon the works of psychologist Jensen, Herrnstein, Eysenck, including selected works of William Shockley and…

  7. Assessing the heritability of attentional networks

    Directory of Open Access Journals (Sweden)

    Fossella John A

    2001-09-01

    Full Text Available Abstract Background Current efforts to study the genetics of higher functions have been lacking appropriate phenotypes to describe cognition. One of the problems is that many cognitive concepts for which there is a single word (e.g. attention have been shown to be related to several anatomical networks. Recently we have developed an Attention Network Test (ANT that provides a separate measure for each of three anatomically defined attention networks. In this small scale study, we ran 26 pairs of MZ and DZ twins in an effort to determine if any of these networks show sufficient evidence of heritability to warrant further exploration of their genetic basis. Results The efficiency of the executive attention network, that mediates stimulus and response conflict, shows sufficient heritability to warrant further study. Alerting and overall reaction time show some evidence for heritability and in our study the orienting network shows no evidence of heritability. Conclusions These results suggest that genetic variation contributes to normal individual differences in higher order executive attention involving dopamine rich frontal areas including the anterior cingulate. At least the executive portion of the ANT may serve as a valid endophenotype for larger twin studies and subsequent molecular genetic analysis in normal subject populations.

  8. Drosophila Modeling of Heritable Neurodevelopmental Disorders

    OpenAIRE

    Gatto, Cheryl L.; Broadie, Kendal

    2011-01-01

    Heritable neurodevelopmental disorders are multifaceted disease conditions encompassing a wide range of symptoms including intellectual disability, cognitive dysfunction, autism and myriad other behavioral impairments. In cases where single, causative genetic defects have been identified, such as Angelman syndrome, Rett syndrome, Neurofibromatosis Type 1 and Fragile X syndrome, the classical Drosophila genetic system has provided fruitful disease models. Recent Drosophila studies have advance...

  9. Heritability estimates and correlations between subjectively ...

    African Journals Online (AJOL)

    PavarniN

    exceptions were positive genetic correlations of fibre diameter (FD) and coefficient of variation of FD with staple formation score and belly and points score. Genetic progress in subjective traits thus appears possible, if desired in a selection strategy. Keywords: Correlations, heritabilities, linearly assessed traits, subjective ...

  10. Genotypic Variability, Heritability, Genetic Advance and Associations ...

    African Journals Online (AJOL)

    %) and kernel yield plant-1 (12.3%). Broad sense heritability were high for spike length (89.2%), plant height (87.1%) and thousand kernels weight (80.2%), indicating that these characters were predominantly controlled by genetic factors.

  11. Heritability of OSA in a Rural Population.

    Science.gov (United States)

    de Paula, Lilian K G; Alvim, Rafael O; Pedrosa, Rodrigo P; Horimoto, Andrea R V R; Krieger, José E; Oliveira, Camila M; Pereira, Alexandre C; Lorenzi-Filho, Geraldo

    2016-01-01

    OSA has a familial aggregation pattern indicating that it can be partially caused by a genetic component. However, the heritability of OSA has been estimated based on the study of families of obese probands of urban populations with established OSA diagnosis. The objective of this genetic-epidemiologic study is to study families ascertained from a general rural population to determine an unbiased estimate of OSA heritability. We studied a sample of families living in Baependi, a small rural southeastern Brazilian city. Participants were assessed for anthropometric measurements, physical examination, Epworth Sleepiness Scale, blood samples for glucose and cholesterol determination, and overnight home portable monitoring. We studied 587 participants (399 women) from 91 families, with a median (interquartile range [IQR]) of 4 (2-8) participants per family. The median age of the population was 44 years (IQR, 29-55 years) and median BMI was 25.0 kg/m(2) (IQR, 22.1-28.6 kg/m(2)). OSA, defined by apnea-hypopnea index (AHI) > 5/h, was diagnosed in 18.6% of the sample. Two polygenic models, model I (no covariate effects) and model II (with covariate effects), were fitted to the data in all analyses. Heritability estimates for AHI were 0.23 and 0.25 for model I and II, respectively. Covariates (age, sex, and BMI) showed no significant effects on the heritability estimate for AHI. The heritability of AHI in a rural population with low levels of obesity is intermediate (25%). Copyright © 2016 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

  12. Heritable and non-heritable pathways to early callous-unemotional behaviors

    Science.gov (United States)

    Hyde, Luke W.; Waller, Rebecca; Trentacosta, Christopher J.; Shaw, Daniel S.; Neiderhiser, Jenae M.; Ganiban, Jody M.; Reiss, David; Leve, Leslie D.

    2016-01-01

    Objective Callous-unemotional behaviors in early childhood identify children at high risk for severe trajectories of antisocial behavior and callous-unemotional traits that culminate in later diagnoses of conduct disorder, antisocial personality disorder, and psychopathy. Studies have demonstrated high heritability of callous-unemotional traits, but little research has examined specific heritable pathways to earlier callous-unemotional behaviors. Additionally, studies indicate that positive parenting protects against the development of callous-unemotional traits, but genetically informed designs have not been used to confirm that these relationships are not the product of gene-environment correlations. Method Using an adoption cohort of 561 families, biological mothers reported their history of severe antisocial behavior. Observations of adoptive mother positive reinforcement at 18 months were examined as predictors of callous-unemotional behaviors when children were 27 months old. Results Biological mother antisocial behavior predicted early callous-unemotional behaviors despite having no or limited contact with offspring. Adoptive mother positive reinforcement protected against early callous-unemotional behaviors in children not genetically related to the parent. High levels of adoptive mother positive reinforcement buffered the effects of heritable risk for callous-unemotional behaviors posed by biological mother antisocial behavior. Conclusions The findings elucidate heritable and non-heritable pathways to early callous-unemotional behaviors. The results provide a specific heritable pathway to callous-unemotional behaviors and compelling evidence that parenting is an important non-heritable factor in the development of callous-unemotional behaviors. As positive reinforcement buffered heritable risk for callous-unemotional behaviors, these findings have important translational implications for the prevention of trajectories to serious antisocial behavior. PMID

  13. Heritability of Drought Adaptive Traits and Relationships with Grain ...

    African Journals Online (AJOL)

    estimate: (i) broad-sense heritability of each tested trait; and (ii) relationships between grain yield and drought adaptive traits. The broad sense heritabilities of flowering traits were relatively high across all growing conditions. In contrast, the heritability for number of ears per plant (EPP) increased with increasing plant ...

  14. Heritability and linkage analysis of personality in bipolar disorder.

    Science.gov (United States)

    Greenwood, Tiffany A; Badner, Judith A; Byerley, William; Keck, Paul E; McElroy, Susan L; Remick, Ronald A; Dessa Sadovnick, A; Kelsoe, John R

    2013-11-01

    The many attempts that have been made to identify genes for bipolar disorder (BD) have met with limited success, which may reflect an inadequacy of diagnosis as an informative and biologically relevant phenotype for genetic studies. Here we have explored aspects of personality as quantitative phenotypes for bipolar disorder through the use of the Temperament and Character Inventory (TCI), which assesses personality in seven dimensions. Four temperament dimensions are assessed: novelty seeking (NS), harm avoidance (HA), reward dependence (RD), and persistence (PS). Three character dimensions are also included: self-directedness (SD), cooperativeness (CO), and self-transcendence (ST). We compared personality scores between diagnostic groups and assessed heritability in a sample of 101 families collected for genetic studies of BD. A genome-wide SNP linkage analysis was then performed in the subset of 51 families for which genetic data was available. Significant group differences were observed between BD subjects, their first-degree relatives, and independent controls for all but RD and PS, and all but HA and RD were found to be significantly heritable in this sample. Linkage analysis of the heritable dimensions produced several suggestive linkage peaks for NS (chromosomes 7q21 and 10p15), PS (chromosomes 6q16, 12p13, and 19p13), and SD (chromosomes 4q35, 8q24, and 18q12). The relatively small size of our linkage sample likely limited our ability to reach genome-wide significance in this study. While not genome-wide significant, these results suggest that aspects of personality may prove useful in the identification of genes underlying BD susceptibility. © 2013 Elsevier B.V. All rights reserved.

  15. Heritability of and early environment effects on variation in mating preferences.

    Science.gov (United States)

    Schielzeth, Holger; Bolund, Elisabeth; Forstmeier, Wolfgang

    2010-04-01

    Many species show substantial between-individual variation in mating preferences, but studying the causes of such variation remains a challenge. For example, the relative importance of heritable variation versus shared early environment effects (like sexual imprinting) on mating preferences has never been quantified in a population of animals. Here, we estimate the heritability of and early rearing effects on mate choice decisions in zebra finches based on the similarity of choices between pairs of genetic sisters raised apart and pairs of unrelated foster sisters. We found a low and nonsignificant heritability of preferences and no significant shared early rearing effects. A literature review shows that a low heritability of preferences is rather typical, whereas empirical tests for the relevance of sexual imprinting within populations are currently limited to very few studies. Although effects on preference functions (i.e., which male to prefer) were weak, we found strong individual consistency in choice behavior and part of this variation was heritable. It seems likely that variation in choice behavior (choosiness, responsiveness, sampling behavior) would produce patterns of nonrandom mating and this might be the more important source of between-individual differences in mating patterns.

  16. HERITABILITY OF AND EARLY ENVIRONMENT EFFECTS ON VARIATION IN MATING PREFERENCES

    Science.gov (United States)

    Schielzeth, Holger; Bolund, Elisabeth; Forstmeier, Wolfgang

    2010-01-01

    Many species show substantial between-individual variation in mating preferences, but studying the causes of such variation remains a challenge. For example, the relative importance of heritable variation versus shared early environment effects (like sexual imprinting) on mating preferences has never been quantified in a population of animals. Here, we estimate the heritability of and early rearing effects on mate choice decisions in zebra finches based on the similarity of choices between pairs of genetic sisters raised apart and pairs of unrelated foster sisters. We found a low and nonsignificant heritability of preferences and no significant shared early rearing effects. A literature review shows that a low heritability of preferences is rather typical, whereas empirical tests for the relevance of sexual imprinting within populations are currently limited to very few studies. Although effects on preference functions (i.e., which male to prefer) were weak, we found strong individual consistency in choice behavior and part of this variation was heritable. It seems likely that variation in choice behavior (choosiness, responsiveness, sampling behavior) would produce patterns of nonrandom mating and this might be the more important source of between-individual differences in mating patterns. PMID:19895552

  17. Electochemical detection of chromosome translocation

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Dimaki, Maria; Silahtaroglu, Asli

    2014-01-01

    Cytogenetics is a study of the cell structure with a main focus on chromosomes content and their structure. Chromosome abnormalities, such as translocations may cause various genetic disorders and heametological malignancies. Chromosome translocations are structural rearrangements of two...... chromosomes that results in formation of derivative chromosomes with a mixed DNA sequence. The method currently used for their detection is Fluorescent In Situ Hybridization, which requires a use of expensive, fluorescently labeled probes that target the derivative chromosomes. We present here a double...... hybridization approach developed for label-free detection of the chromosome translocations. For specific translocation detection it is necessary to determine that the two DNA sequences forming a derivative chromosome are connected, which is achieved by two subsequent hybridization steps. The electrochemical...

  18. Structural insights into ribosome translocation.

    Science.gov (United States)

    Ling, Clarence; Ermolenko, Dmitri N

    2016-09-01

    During protein synthesis, tRNA and mRNA are translocated from the A to P to E sites of the ribosome thus enabling the ribosome to translate one codon of mRNA after the other. Ribosome translocation along mRNA is induced by the universally conserved ribosome GTPase, elongation factor G (EF-G) in bacteria and elongation factor 2 (EF-2) in eukaryotes. Recent structural and single-molecule studies revealed that tRNA and mRNA translocation within the ribosome is accompanied by cyclic forward and reverse rotations between the large and small ribosomal subunits parallel to the plane of the intersubunit interface. In addition, during ribosome translocation, the 'head' domain of small ribosomal subunit undergoes forward- and back-swiveling motions relative to the rest of the small ribosomal subunit around the axis that is orthogonal to the axis of intersubunit rotation. tRNA/mRNA translocation is also coupled to the docking of domain IV of EF-G into the A site of the small ribosomal subunit that converts the thermally driven motions of the ribosome and tRNA into the forward translocation of tRNA/mRNA inside the ribosome. Despite recent and enormous progress made in the understanding of the molecular mechanism of ribosome translocation, the sequence of structural rearrangements of the ribosome, EF-G and tRNA during translocation is still not fully established and awaits further investigation. WIREs RNA 2016, 7:620-636. doi: 10.1002/wrna.1354 For further resources related to this article, please visit the WIREs website. © 2016 The Authors. WIREs RNA published by Wiley Periodicals, Inc.

  19. Novel Molecular Therapies for Heritable Skin Disorders

    Science.gov (United States)

    Uitto, Jouni; Christiano, Angela M.; Irwin McLean, W. H.; McGrath, John A.

    2013-01-01

    Tremendous progress has been made in the past two decades in molecular genetics of heritable skin diseases, and pathogenic mutations have been identified in as many as 500 distinct human genes. This progress has resulted in improved diagnosis with prognostic implications, refined genetic counseling, and has formed the basis for prenatal and presymptomatic testing as well as preimplantation genetic diagnosis. However, there has been relatively little progress in developing effective and specific treatments for these often devastating diseases. Very recently, however, a number of novel molecular strategies, including gene therapy, cell-based approaches, and protein replacement therapy have been explored for treatment of these conditions. This overview will focus on the prototypic heritable blistering disorders, epidermolysis bullosa and related keratinopathies, in which significant progress has been recently made towards treatment, and illustrate how some of the translational research therapies have already entered the clinical arena. PMID:22158553

  20. Heritability of somatotype components: a multivariate analysis.

    Science.gov (United States)

    Peeters, M W; Thomis, M A; Loos, R J F; Derom, C A; Fagard, R; Claessens, A L; Vlietinck, R F; Beunen, G P

    2007-08-01

    To study the genetic and environmental determination of variation in Heath-Carter somatotype (ST) components (endomorphy, mesomorphy and ectomorphy). Multivariate path analysis on twin data. Eight hundred and three members of 424 adult Flemish twin pairs (18-34 years of age). The results indicate the significance of sex differences and the significance of the covariation between the three ST components. After age-regression, variation of the population in ST components and their covariation is explained by additive genetic sources of variance (A), shared (familial) environment (C) and unique environment (E). In men, additive genetic sources of variance explain 28.0% (CI 8.7-50.8%), 86.3% (71.6-90.2%) and 66.5% (37.4-85.1%) for endomorphy, mesomorphy and ectomorphy, respectively. For women, corresponding values are 32.3% (8.9-55.6%), 82.0% (67.7-87.7%) and 70.1% (48.9-81.8%). For all components in men and women, more than 70% of the total variation was explained by sources of variance shared between the three components, emphasising the importance of analysing the ST in a multivariate way. The findings suggest that the high heritabilities for mesomorphy and ectomorphy reported in earlier twin studies in adolescence are maintained in adulthood. For endomorphy, which represents a relative measure of subcutaneous adipose tissue, however, the results suggest heritability may be considerably lower than most values reported in earlier studies on adolescent twins. The heritability is also lower than values reported for, for example, body mass index (BMI), which next to the weight of organs and adipose tissue also includes muscle and bone tissue. Considering the differences in heritability between musculoskeletal robustness (mesomorphy) and subcutaneous adipose tissue (endomorphy) it may be questioned whether studying the genetics of BMI will eventually lead to a better understanding of the genetics of fatness, obesity and overweight.

  1. A family with Robertsonian translocation: a potential mechanism of speciation in humans.

    Science.gov (United States)

    Song, Jieping; Li, Xi; Sun, Lei; Xu, Shuqin; Liu, Nian; Yao, Yanyi; Liu, Zhi; Wang, Weipeng; Rong, Han; Wang, Bo

    2016-01-01

    Robertsonian translocations occur in approximately one in every 1000 newborns. Although most Robertsonian translocation carriers are healthy and have a normal lifespan, they are at increased risk of spontaneous abortions and risk of producing unbalanced gametes and, therefore unbalanced offspring. Here we reported a previously undescribed Robertsonian translocation. We identified three Robertsonian translocation carriers in this family. Two were heterozygous translocation carriers of 45,XX or XY,der(14;15)(q10;q10) and their son was a homozygous translocation carrier of a 44,XY,der(14;15)(q10;q10), der(14;15)(q10;q10) karyotype. Chromosomal analysis of sperm showed 99.7 % of sperm from the homozygous translocation carrier were normal/balanced while only 79.9 % of sperm from the heterozygous translocation carrier were normal/balanced. There was a significantly higher frequency of aneuploidy for sex chromosome in the heterozygous translocation carrier. The reproductive fitness of Robertsonian translocation carriers is reduced. Robertsonian translocation homozygosity can be a potential speciation in humans with 44 chromosomes.

  2. Heritability and intrafamilial aggregation of arterial characteristics

    Science.gov (United States)

    Seidlerová, Jitka; Bochud, Murielle; Staessen, Jan A.; Cwynar, Marcin; Dolejšová, Milena; Kuznetsova, Tatiana; Nawrot, Tim; Olszanecka, Agnieszka; Stolarz, Katarzyna; Thijs, Lutgarde; Wojciechowska, Wiktoria; Struijker-Boudier, Harry A.; Kawecka-Jaszcz, Kalina; Elston, Robert C.; Fagard, Robert; Filipovský, Jan

    2013-01-01

    Background We investigated the heritability and familial aggregation of various indexes of arterial stiffness and wave reflection and we partitioned the phenotypic correlation between these traits into shared genetic and environmental components. Methods Using a family-based population sample, we recruited 204 parents (mean age, 51.7 years) and 290 offspring (29.4 years) from the population in Cracow, Poland (62 families), Hechtel-Eksel, Belgium (36), and Pilsen, the Czech Republic (50). We measured peripheral pulse pressure (PPp) sphygmomanometrically at the brachial artery; central pulse pressure (PPc), the peripheral augmentation indexes (PAIxs) and central augmentation indexes (CAIxs) by applanation tonometry at the radial artery; and aortic pulse wave velocity (PWV) by tonometry or ultrasound. In multivariate-adjusted analyses, we used the ASSOC and PROC GENMOD procedures as implemented in SAGE and SAS, respectively. Results We found significant heritability for PAIx, CAIx, PPc and mean arterial pressure ranging from 0.37 to 0.41; P ≤ 0.0001. The method of intrafamilial concordance confirmed these results; intrafamilial correlation coefficients were significant for all arterial indexes (r > ≥ 0.12; P < ≤ 0.02) with the exception of PPc (r = −0.007; P = 0.90) in parent–offspring pairs. The sib–sib correlations were also significant for CAIx (r = 0.22; P = 0.001). The genetic correlation between PWV and the other arterial indexes were significant (ρG ≥ 0.29; P < 0.0001). The corresponding environmental correlations were only significantly positive for PPp (ρE = 0.10, P = 0.03). Conclusion The observation of significant intrafamilial concordance and heritability of various indexes of arterial stiffness as well as the genetic correlations among arterial phenotypes strongly support the search for shared genetic determinants underlying these traits. PMID:18327082

  3. Familial aggregation and heritability of pyloric stenosis.

    Science.gov (United States)

    Krogh, Camilla; Fischer, Thea K; Skotte, Line; Biggar, Robert J; Øyen, Nina; Skytthe, Axel; Goertz, Sanne; Christensen, Kaare; Wohlfahrt, Jan; Melbye, Mads

    2010-06-16

    Pyloric stenosis is the most common condition requiring surgery in the first months of life. Case reports have suggested familial aggregation, but to what extent this is caused by common environment or inheritance is unknown. To investigate familial aggregation of pyloric stenosis from monozygotic twins to fourth-generation relatives according to sex and maternal and paternal contributions and to estimate disease heritability. Population-based cohort study of 1,999,738 children born in Denmark between 1977 and 2008 and followed up for the first year of life, during which 3362 children had surgery for pyloric stenosis. Familial aggregation of pyloric stenosis, evaluated by rate ratios. The incidence rate (per 1000 person-years) of pyloric stenosis in the first year of life was 1.8 for singletons and 3.1 for twins. The rate ratios of pyloric stenosis were 182 (95% confidence interval [CI], 70.7-467) for monozygotic twins, 29.4 (95% CI, 9.45-91.5) for dizygotic twins, 18.5 (95% CI, 13.7-25.1) for siblings, 4.99 (95% CI, 2.59-9.65) for half-siblings, 3.06 (95% CI, 2.10-4.44) for cousins, and 1.60 (95% CI, 0.51-4.99) for half-cousins. We found no difference in rate ratios for maternal and paternal relatives of children with pyloric stenosis and no difference according to sex of cohort member or sex of relative. The heritability of pyloric stenosis was 87%. Pyloric stenosis in Danish children shows strong familial aggregation and heritability.

  4. Low heritability in pharmacokinetics of talinolol

    DEFF Research Database (Denmark)

    Matthaei, Johannes; Tzvetkov, Mladen V; Gal, Valerie

    2016-01-01

    BACKGROUND: Efflux transporters like MDR1 and MRP2 may modulate the pharmacokinetics of about 50 % of all drugs. It is currently unknown how much of the variation in the activities of important drug membrane transporters like MDR1 or MRP2 is determined by genetic or by environmental factors...... of talinolol was predefined as the primary parameter. Heritability was analyzed by structural equation modeling and by within- and between-subject variance and talinolol clearance was correlated with polymorphisms in MDR1, MRP2, BCRP, MDR5, OATP1B1, and OCT1. RESULTS: Talinolol clearance varied approximately...

  5. Aphid Heritable Symbiont Exploits Defensive Mutualism.

    Science.gov (United States)

    Doremus, Matthew R; Oliver, Kerry M

    2017-04-15

    Insects and other animals commonly form symbioses with heritable bacteria, which can exert large influences on host biology and ecology. The pea aphid, Acyrthosiphon pisum , is a model for studying effects of infection with heritable facultative symbionts (HFS), and each of its seven common HFS species has been reported to provide resistance to biotic or abiotic stresses. However, one common HFS, called X-type, rarely occurs as a single infection in field populations and instead typically superinfects individual aphids with Hamiltonella defensa , another HFS that protects aphids against attack by parasitic wasps. Using experimental aphid lines comprised of all possible infection combinations in a uniform aphid genotype, we investigated whether the most common strain of X-type provides any of the established benefits associated with aphid HFS as a single infection or superinfection with H. defensa We found that X-type does not confer protection to any tested threats, including parasitoid wasps, fungal pathogens, or thermal stress. Instead, component fitness assays identified large costs associated with X-type infection, costs which were ameliorated in superinfected aphids. Together these findings suggest that X-type exploits the aphid/ H. defensa mutualism and is maintained primarily as a superinfection by "hitchhiking" via the mutualistic benefits provided by another HFS. Exploitative symbionts potentially restrict the functions and distributions of mutualistic symbioses with effects that extend to other community members. IMPORTANCE Maternally transmitted bacterial symbionts are widespread and can have major impacts on the biology of arthropods, including insects of medical and agricultural importance. Given that host fitness and symbiont fitness are tightly linked, inherited symbionts can spread within host populations by providing beneficial services. Many insects, however, are frequently infected with multiple heritable symbiont species, providing potential

  6. Drosophila modeling of heritable neurodevelopmental disorders.

    Science.gov (United States)

    Gatto, Cheryl L; Broadie, Kendal

    2011-12-01

    Heritable neurodevelopmental disorders are multifaceted disease conditions encompassing a wide range of symptoms including intellectual disability, cognitive dysfunction, autism and myriad other behavioral impairments. In cases where single, causative genetic defects have been identified, such as Angelman syndrome, Rett syndrome, Neurofibromatosis Type 1 and Fragile X syndrome, the classical Drosophila genetic system has provided fruitful disease models. Recent Drosophila studies have advanced our understanding of UBE3A, MECP2, NF1 and FMR1 function, respectively, in genetic, biochemical, anatomical, physiological and behavioral contexts. Investigations in Drosophila continue to provide the essential mechanistic understanding required to facilitate the conception of rational therapeutic treatments. Copyright © 2011 Elsevier Ltd. All rights reserved.

  7. Familial aggregation and heritability of pyloric stenosis

    DEFF Research Database (Denmark)

    Krogh, Camilla; Fischer, Thea K; Skotte, Line

    2010-01-01

    for the first year of life, during which 3362 children had surgery for pyloric stenosis. MAIN OUTCOME MEASURE: Familial aggregation of pyloric stenosis, evaluated by rate ratios. RESULTS: The incidence rate (per 1000 person-years) of pyloric stenosis in the first year of life was 1.8 for singletons and 3......CONTEXT: Pyloric stenosis is the most common condition requiring surgery in the first months of life. Case reports have suggested familial aggregation, but to what extent this is caused by common environment or inheritance is unknown. OBJECTIVES: To investigate familial aggregation of pyloric...... familial aggregation and heritability....

  8. Efficient induction of Wheat-agropyron cristatum 6P translocation lines and GISH detection.

    Directory of Open Access Journals (Sweden)

    Liqiang Song

    Full Text Available The narrow genetic background restricts wheat yield and quality improvement. The wild relatives of wheat are the huge gene pools for wheat improvement and can broaden its genetic basis. Production of wheat-alien translocation lines can transfer alien genes to wheat. So it is important to develop an efficient method to induce wheat-alien chromosome translocation. Agropyroncristatum (P genome carries many potential genes beneficial to disease resistance, stress tolerance and high yield. Chromosome 6P possesses the desirable genes exhibiting good agronomic traits, such as high grain number per spike, powdery mildew resistance and stress tolerance. In this study, the wheat-A. cristatum disomic addition was used as bridge material to produce wheat-A. cristatum translocation lines induced by (60Co-γirradiation. The results of genomic in situ hybridization showed that 216 plants contained alien chromosome translocation among 571 self-pollinated progenies. The frequency of translocation was 37.83%, much higher than previous reports. Moreover, various alien translocation types were identified. The analysis of M2 showed that 62.5% of intergeneric translocation lines grew normally without losing the translocated chromosomes. The paper reported a high efficient technical method for inducing alien translocation between wheat and Agropyroncristatum. Additionally, these translocation lines will be valuable for not only basic research on genetic balance, interaction and expression of different chromosome segments of wheat and alien species, but also wheat breeding programs to utilize superior agronomic traits and good compensation effect from alien chromosomes.

  9. Beyond missing heritability: prediction of complex traits.

    Directory of Open Access Journals (Sweden)

    Robert Makowsky

    2011-04-01

    Full Text Available Despite rapid advances in genomic technology, our ability to account for phenotypic variation using genetic information remains limited for many traits. This has unfortunately resulted in limited application of genetic data towards preventive and personalized medicine, one of the primary impetuses of genome-wide association studies. Recently, a large proportion of the "missing heritability" for human height was statistically explained by modeling thousands of single nucleotide polymorphisms concurrently. However, it is currently unclear how gains in explained genetic variance will translate to the prediction of yet-to-be observed phenotypes. Using data from the Framingham Heart Study, we explore the genomic prediction of human height in training and validation samples while varying the statistical approach used, the number of SNPs included in the model, the validation scheme, and the number of subjects used to train the model. In our training datasets, we are able to explain a large proportion of the variation in height (h(2 up to 0.83, R(2 up to 0.96. However, the proportion of variance accounted for in validation samples is much smaller (ranging from 0.15 to 0.36 depending on the degree of familial information used in the training dataset. While such R(2 values vastly exceed what has been previously reported using a reduced number of pre-selected markers (<0.10, given the heritability of the trait (∼ 0.80, substantial room for improvement remains.

  10. Transcriptional Infidelity Promotes Heritable Phenotypic Change in a Bistable Gene Network

    Science.gov (United States)

    Gordon, Alasdair J. E; Halliday, Jennifer A; Blankschien, Matthew D; Burns, Philip A; Yatagai, Fumio; Herman, Christophe

    2009-01-01

    Bistable epigenetic switches are fundamental for cell fate determination in unicellular and multicellular organisms. Regulatory proteins associated with bistable switches are often present in low numbers and subject to molecular noise. It is becoming clear that noise in gene expression can influence cell fate. Although the origins and consequences of noise have been studied, the stochastic and transient nature of RNA errors during transcription has not been considered in the origin or modeling of noise nor has the capacity for such transient errors in information transfer to generate heritable phenotypic change been discussed. We used a classic bistable memory module to monitor and capture transient RNA errors: the lac operon of Escherichia coli comprises an autocatalytic positive feedback loop producing a heritable all-or-none epigenetic switch that is sensitive to molecular noise. Using single-cell analysis, we show that the frequency of epigenetic switching from one expression state to the other is increased when the fidelity of RNA transcription is decreased due to error-prone RNA polymerases or to the absence of auxiliary RNA fidelity factors GreA and GreB (functional analogues of eukaryotic TFIIS). Therefore, transcription infidelity contributes to molecular noise and can effect heritable phenotypic change in genetically identical cells in the same environment. Whereas DNA errors allow genetic space to be explored, RNA errors may allow epigenetic or expression space to be sampled. Thus, RNA infidelity should also be considered in the heritable origin of altered or aberrant cell behaviour. PMID:19243224

  11. Genetic variability and heritability studies of some reproductive traits ...

    African Journals Online (AJOL)

    GRACE

    2006-07-03

    Jul 3, 2006 ... genotypic variability of some reproductive traits and their heritability in some selected cowpea varieties. Results of ... Broad-sense heritability estimate (h2) was 98.9% for 100-seed weight, 94% for duration of reproductive phase, 84.5% for .... days interval to control flowering-and post-flowering insect pests.

  12. Genotype by environment interactions, stability, and heritability of ...

    African Journals Online (AJOL)

    Genotype x location x year interaction variances were also found significant at all the traits except first pod height. The estimates of heritabilities with limited phenotypic variance definition were ... Moderate or low heritabilities estimated for all the traits showed that family selection method could be used instead of individual ...

  13. Heritable factors influence sexual orientation in women.

    Science.gov (United States)

    Bailey, J M; Pillard, R C; Neale, M C; Agyei, Y

    1993-03-01

    Homosexual female probands with monozygotic cotwins, dizygotic cotwins, or adoptive sisters were recruited using homophile publications. Sexual orientation of relatives was assessed either by asking relatives directly, or, when this was impossible, by asking the probands. Of the relatives whose sexual orientation could be confidently rated, 34 (48%) of 71 monozygotic cotwins, six (16%) of 37 dizygotic cotwins, and two (6%) of 35 adoptive sisters were homosexual. Probands also reported 10 (14%) nontwin biologic sisters to be homosexual, although those sisters were not contacted to confirm their orientations. Heritabilities were significant using a wide range of assumptions about both the base rate of homosexuality in the population and ascertainment bias. The likelihood that a monozygotic cotwin would also be homosexual was unrelated to measured characteristics of the proband such as self-reported history of childhood gender nonconformity. Concordant monozygotic twins reported similar levels of childhood gender nonconformity.

  14. Human somatic, germinal and heritable mutagenicity

    Energy Technology Data Exchange (ETDEWEB)

    Mendelsohn, M.L.

    1987-05-01

    This report deals with the general process of variant formation rather than with the consequences of a specific variant being present. It focusses on mutational mechanisms, mutagens, and the method for detecting de novo mutants and estimating mutation rate. It is to human genetics much like disease causation and prevention medicine are to medicine as a whole. The word ''mutagenicity'' is used in the title and throughout the text to connote the causation of all classes of genetic damage. Mutagenicity and the corresponding words mutation, mutagen and mutagenesis can have multiple meaning, sometimes relating to gene mutation, sometimes to heritable mutation, and somtimes to all types of genetic damage. 38 refs., 1 tab.

  15. Sex-differences in heritability of BMI

    DEFF Research Database (Denmark)

    Schousboe, K; Willemsen, G; Kyvik, Kirsten Ohm

    2003-01-01

    Body mass index (BMI), a simple anthropometric measure, is the most frequently used measure of adiposity and has been instrumental in documenting the worldwide increase in the prevalence of obesity witnessed during the last decades. Although this increase in overweight and obesity is thought...... to be mainly due to environmental changes, i.e., sedentary lifestyles and high caloric diets, consistent evidence from twin studies demonstrates high heritability and the importance of genetic differences for normal variation in BMI. We analysed self-reported data on BMI from approximately 37,000 complete twin...... factors that influence variation in BMI. These results encourage the continued search for genes of importance to the body composition and the development of obesity. Furthermore, they suggest that strategies to identify predisposing genes may benefit from taking into account potential sex specific effects....

  16. Heritability of working memory brain activation.

    Science.gov (United States)

    Blokland, Gabriëlla A M; McMahon, Katie L; Thompson, Paul M; Martin, Nicholas G; de Zubicaray, Greig I; Wright, Margaret J

    2011-07-27

    Although key to understanding individual variation in task-related brain activation, the genetic contribution to these individual differences remains largely unknown. Here we report voxel-by-voxel genetic model fitting in a large sample of 319 healthy, young adult, human identical and fraternal twins (mean ± SD age, 23.6 ± 1.8 years) who performed an n-back working memory task during functional magnetic resonance imaging (fMRI) at a high magnetic field (4 tesla). Patterns of task-related brain response (BOLD signal difference of 2-back minus 0-back) were significantly heritable, with the highest estimates (40-65%) in the inferior, middle, and superior frontal gyri, left supplementary motor area, precentral and postcentral gyri, middle cingulate cortex, superior medial gyrus, angular gyrus, superior parietal lobule, including precuneus, and superior occipital gyri. Furthermore, high test-retest reliability for a subsample of 40 twins indicates that nongenetic variance in the fMRI brain response is largely due to unique environmental influences rather than measurement error. Individual variations in activation of the working memory network are therefore significantly influenced by genetic factors. By establishing the heritability of cognitive brain function in a large sample that affords good statistical power, and using voxel-by-voxel analyses, this study provides the necessary evidence for task-related brain activation to be considered as an endophenotype for psychiatric or neurological disorders, and represents a substantial new contribution to the field of neuroimaging genetics. These genetic brain maps should facilitate discovery of gene variants influencing cognitive brain function through genome-wide association studies, potentially opening up new avenues in the treatment of brain disorders.

  17. Heritability estimates of methane emissions from sheep.

    Science.gov (United States)

    Pinares-Patiño, C S; Hickey, S M; Young, E A; Dodds, K G; MacLean, S; Molano, G; Sandoval, E; Kjestrup, H; Harland, R; Hunt, C; Pickering, N K; McEwan, J C

    2013-06-01

    The objective of this study was to determine the genetic parameters of methane (CH4) emissions and their genetic correlations with key production traits. The trial measured the CH4 emissions, at 5-min intervals, from 1225 sheep placed in respiration chambers for 2 days, with repeat measurements 2 weeks later for another 2 days. They were fed in the chambers, based on live weight, a pelleted lucerne ration at 2.0 times estimated maintenance requirements. Methane outputs were calculated for g CH4/day and g CH4/kg dry matter intake (DMI) for each of the 4 days. Single trait models were used to obtain estimates of heritability and repeatability. Heritability of g CH4/day was 0.29 ± 0.05, and for g CH4/kg DMI 0.13 ± 0.03. Repeatability between measurements 14 days apart were 0.55 ± 0.02 and 0.26 ± 0.02, for the two traits. The genetic and phenotypic correlations of CH4 outputs with various production traits (weaning weight, live weight at 8 months of age, dag score, muscle depth and fleece weight at 12 months of age) measured in the first year of life, were estimated using bivariate models. With the exception of fleece weight, correlations were weak and not significantly different from zero for the g CH4/kg DMI trait. For fleece weight the phenotypic and genetic correlation estimates were -0.08 ± 0.03 and -0.32 ± 0.11 suggesting a low economically favourable relationship. These results indicate that there is genetic variation between animals for CH4 emission traits even after adjustment for feed intake and that these traits are repeatable. Current work includes the establishment of selection lines from these animals to investigate the physiological, microbial and anatomical changes, coupled with investigations into shorter and alternative CH4 emission measurement and breeding value estimation techniques; including genomic selection.

  18. Suitability of amphibians and reptiles for translocation.

    Science.gov (United States)

    Germano, Jennifer M; Bishop, Phillip J

    2009-02-01

    Translocations are important tools in the field of conservation. Despite increased use over the last few decades, the appropriateness of translocations for amphibians and reptiles has been debated widely over the past 20 years. To provide a comprehensive evaluation of the suitability of amphibians and reptiles for translocation, we reviewed the results of amphibian and reptile translocation projects published between 1991 and 2006. The success rate of amphibian and reptile translocations reported over this period was twice that reported in an earlier review in 1991. Success and failure rates were independent of the taxonomic class (Amphibia or Reptilia) released. Reptile translocations driven by human-wildlife conflict mitigation had a higher failure rate than those motivated by conservation, and more recent projects of reptile translocations had unknown outcomes. The outcomes of amphibian translocations were significantly related to the number of animals released, with projects releasing over 1000 individuals being most successful. The most common reported causes of translocation failure were homing and migration of introduced individuals out of release sites and poor habitat. The increased success of amphibian and reptile translocations reviewed in this study compared with the 1991 review is encouraging for future conservation projects. Nevertheless, more preparation, monitoring, reporting of results, and experimental testing of techniques and reintroduction questions need to occur to improve translocations of amphibians and reptiles as a whole.

  19. Translocation

    Science.gov (United States)

    Perkins JA. Diseases of white blood cells, lymph nodes, spleen, and thymus. In: Kumar V, Abbas AK, Aster JC, eds. Robbins and Cotran Pathologic Basis of Disease . 9th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 13.

  20. Group differences in the heritability of items and test scores

    Science.gov (United States)

    Wicherts, Jelte M.; Johnson, Wendy

    2009-01-01

    It is important to understand potential sources of group differences in the heritability of intelligence test scores. On the basis of a basic item response model we argue that heritabilities which are based on dichotomous item scores normally do not generalize from one sample to the next. If groups differ in mean ability, the functioning of items at different ability levels may result in group differences in the heritability of items, even when these items function equivalently across groups and the heritability of the underlying ability is equal across groups. We illustrate this graphically, by computer simulation, and by focusing on several problems associated with a recent study by Rushton et al. who argued that the heritability estimates of items of Raven's Progressive Matrices test in North-American twin samples generalized to other population groups, and hence that the population group differences on this test of general mental ability (or intelligence) had a substantial genetic component. Our results show that item heritabilities are strongly dependent on the group on which the heritabilities were based. Rushton et al.'s results were artefactual and do not speak to the nature of population group differences in intelligence test performance. PMID:19403538

  1. Heritability and mortality risk of insomnia-related symptoms: a genetic epidemiologic study in a population-based twin cohort.

    Science.gov (United States)

    Hublin, Christer; Partinen, Markku; Koskenvuo, Markku; Kaprio, Jaakko

    2011-07-01

    Our aim was to estimate heritability in phenotypic insomnia and the association between insomnia and mortality. Representative follow-up study. 1990 survey of the Finnish Twin Cohort (N = 12502 adults; 1554 monozygotic and 2991 dizygotic twin pairs). Current insomnia-related symptoms (insomnia in general, difficulty in initiating sleep, sleep latency, nocturnal awakening, early morning awakening, and non-restorative sleep assessed in the morning and during the day) were asked. Latent class analysis was used to classify subjects into different sleep quality classes. Quantitative genetic modelling was used to estimate heritability. Mortality data was obtained from national registers until end of April 2009. The heritability estimates of each symptom were similar in both genders varying from 34% (early morning awakening) to 45% (nocturnal awakening). The most parsimonious latent class analysis produced 3 classes: good sleepers (48%), average sleepers (up to weekly symptoms, 40%), and poor sleepers (symptoms daily or almost daily, 12%). The heritability estimate for the cluster was 46% (95% confidence interval 41% to 50%). In a model adjusted for smoking, BMI, and depressive symptoms, the all-cause mortality of poor sleepers was elevated (excess mortality 55% in men and 51% in women). Further adjustment for sleep length, use of sleep promoting medications, and sleep apnea-related symptoms did not change the results. Insomnia-related symptoms were common in both genders. The symptoms and their clusters showed moderate heritability estimates. A significant association was found between poor sleep and risk of mortality, especially in those with somatic disease.

  2. Problems with mitigation translocation of herpetofauna.

    Science.gov (United States)

    Sullivan, Brian K; Nowak, Erika M; Kwiatkowski, Matthew A

    2015-02-01

    Mitigation translocation of nuisance animals is a commonly used management practice aimed at resolution of human-animal conflict by removal and release of an individual animal. Long considered a reasonable undertaking, especially by the general public, it is now known that translocated subjects are negatively affected by the practice. Mitigation translocation is typically undertaken with individual adult organisms and has a much lower success rate than the more widely practiced conservation translocation of threatened and endangered species. Nonetheless, the public and many conservation practitioners believe that because population-level conservation translocations have been successful that mitigation translocation can be satisfactorily applied to a wide variety of human-wildlife conflict situations. We reviewed mitigation translocations of reptiles, including our own work with 3 long-lived species (Gila monsters [Heloderma suspectum], Sonoran desert tortoises [Gopherus morafkai], and western diamond-backed rattlesnakes [Crotalus atrox]). Overall, mitigation translocation had a low success rate when judged either by effects on individuals (in all studies reviewed they exhibited increased movement or increased mortality) or by the success of the resolution of the human-animal conflict (translocated individuals often returned to the capture site). Careful planning and identification of knowledge gaps are critical to increasing success rates in mitigation translocations in the face of increasing pressure to find solutions for species threatened by diverse anthropogenic factors, including climate change and exurban and energy development. © 2014 Society for Conservation Biology.

  3. Heritability of plasma neopterin levels in the Old Order Amish.

    Science.gov (United States)

    Raheja, Uttam K; Fuchs, Dietmar; Lowry, Christopher A; Stephens, Sarah H; Pavlovich, Mary A; Mohyuddin, Hira; Yousufi, Hassaan; Ryan, Kathleen A; O'Connell, Jeff; Brenner, Lisa A; Punzalan, Cecile; Hoisington, Andrew J; Nijjar, Gursharon K; Groer, Maureen; Shuldiner, Alan R; Pollin, Toni I; Stiller, John W; Mitchell, Braxton D; Postolache, Teodor T

    2017-06-15

    We examined the heritability of neopterin, a biomarker for cell-mediated immunity and oxidative stress, and potentially for psychiatric disorders, in the Old Order Amish. Plasma neopterin levels were determined in 2015 Old Order Amish adults. Quantitative genetic procedures were used to estimate heritability of neopterin. Heritability of log-neopterin was estimated at 0.07 after adjusting for age, gender, and household (p=0.03). The shared household effect was 0.06 (pAmish. Copyright © 2017. Published by Elsevier B.V.

  4. Environmental variation partitioned into separate heritable components.

    Science.gov (United States)

    Ørsted, Michael; Rohde, Palle Duun; Hoffmann, Ary Anthony; Sørensen, Peter; Kristensen, Torsten Nygaard

    2018-01-01

    Trait variation is normally separated into genetic and environmental components, yet genetic factors also control the expression of environmental variation, encompassing plasticity across environmental gradients and within-environment responses. We defined four components of environmental variation: plasticity across environments, variability in plasticity, variation within environments, and differences in within-environment variation across environments. We assessed these components for cold tolerance across five rearing temperatures using the Drosophila melanogaster Genetic Reference Panel (DGRP). The four components were found to be heritable, and genetically correlated to different extents. By whole genome single marker regression, we detected multiple candidate genes controlling the four components and showed limited overlap in genes affecting them. Using the binary UAS-GAL4 system, we functionally validated the effects of a subset of candidate genes affecting each of the four components of environmental variation and also confirmed the genetic and phenotypic correlations obtained from the DGRP in distinct genetic backgrounds. We delineate selection targets associated with environmental variation and the constraints acting upon them, providing a framework for evolutionary and applied studies on environmental sensitivity. Based on our results we suggest that the traditional quantitative genetic view of environmental variation and genotype-by-environment interactions needs revisiting. © 2017 The Author(s). Evolution © 2017 The Society for the Study of Evolution.

  5. Efficient and heritable transformation of Phalaenopsis orchids.

    Science.gov (United States)

    Hsing, Hong-Xian; Lin, Yi-Jyun; Tong, Chii-Gong; Li, Min-Jeng; Chen, Yun-Jin; Ko, Swee-Suak

    2016-12-01

    Phalaenopsis orchid (Phal. orchid) is visually attractive and it is important economic floriculture species. Phal. orchids have many unique biological features. However, investigation of these features and validation on their biological functions are limited due to the lack of an efficient transformation method. We developed a heritable and efficient Agrobacterium- mediated transformation using protocorms derived from tetraploid or diploid Phal. orchids. A T-DNA vector construct containing eGFP driven by ubiquitin promoter was subjected to transformation. An approximate 1.2-5.2 % transformation rate was achieved. Genomic PCR confirmed that hygromycin selection marker, HptII gene and target gene eGFP were integrated into the orchid genome. Southern blotting indicated a low T-DNA insertion number in the orchid genome of the transformants. Western blot confirmed the expression of eGFP protein in the transgenic orchids. Furthermore, the GFP signal was detected in the transgenic orchids under microscopy. After backcrossing the pollinia of the transgenic plants to four different Phal. orchid varieties, the BC1 progenies showed hygromycin resistance and all surviving BC1 seedlings were HptII positive in PCR and expressed GFP protein as shown by western blot. This study demonstrated a stable transformation system was generated for Phal. orchids. This useful transformation protocol enables functional genomics studies and molecular breeding.

  6. SNP based heritability estimation using a Bayesian approach

    DEFF Research Database (Denmark)

    Krag, Kristian; Janss, Luc; Mahdi Shariati, Mohammad

    2013-01-01

    of 0.05, all models had difficulties in estimating the true heritability. The two Bayesian models were compared with a restricted maximum likelihood (REML) approach using a genomic relationship matrix. The comparison showed that the Bayesian approaches performed equally well as the REML approach......Heritability is a central element in quantitative genetics. New molecular markers to assess genetic variance and heritability are continually under development. The availability of molecular single nucleotide polymorphism (SNP) markers can be applied for estimation of variance components....... Differences in family structure were in general not found to influence the estimation of the heritability. For the sample sizes used in this study, a 10-fold increase of SNP density did not improve precision estimates compared with set-ups with a less dense distribution of SNPs. The methods used in this study...

  7. Childhood and adolescent anxiety and depression: beyond heritability

    NARCIS (Netherlands)

    Franic, S.; Middeldorp, C.M.; Dolan, C.V.; Ligthart, L.; Boomsma, D.I.

    2010-01-01

    Objective: To review the methodology of behavior genetics studies addressing research questions that go beyond simple heritability estimation and illustrate these using representative research on childhood and adolescent anxiety and depression. Method: The classic twin design and its extensions may

  8. Childhood and Adolescent Anxiety and Depression: Beyond Heritability

    NARCIS (Netherlands)

    Franic, S.; Middeldorp, C.M.; Dolan, C.V.; Ligthart, R.S.L.; Boomsma, D.I.

    2010-01-01

    Objective: To review the methodology of behavior genetics studies addressing research questions that go beyond simple heritability estimation and illustrate these using representative research on childhood and adolescent anxiety and depression. Method: The classic twin design and its extensions may

  9. Heritability of wing-beat frequency in Anopheles quadrimaculatus.

    Science.gov (United States)

    Robertson, Shawn P; Caprio, Michael A; Faver, Marla K

    2002-12-01

    The repeatability of male wing-beat frequency measurements of Anopheles quadrimaculatus was determined by using mosquitoes allowed free flight in a confined space. Heritability of the wing-beat frequency trait was estimated for a laboratory and a wild-strain population of An. quadrimaculatus by using free-flight measurement with a parent-offspring regression of offspring on dams. Repeatability was 0.75 for free flight. Wing-beat frequency rose for the 1st day after adult emergence and then became steady. Female heritability of wing-beat frequency was 21.6% for colony and 24.0% for wild-strain mosquitoes. Male heritability was 57.2% for colony and 53.7% for wild-strain mosquitoes. Male heritability was significantly different from 0 when probabilities were combined across both populations.

  10. Tic symptom dimensions and their heritabilities in Tourette's syndrome

    NARCIS (Netherlands)

    de Haan, Marcel J; Delucchi, Kevin L; Mathews, Carol M; Cath, Danielle C

    INTRODUCTION: Gilles de la Tourette's syndrome (TS) is both genotypically and phenotypically heterogeneous. Gene-finding strategies have had limited success, possibly because of symptom heterogeneity. OBJECTIVE: This study aimed at specifically investigating heritabilities of tic symptom factors in

  11. Balanced Reciprocal Translocations Detected at Amniocentesis

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2010-12-01

    Conclusion: Balanced reciprocal translocations detected at amniocentesis may be associated with fetal anomalies in cases of concomitant aneuploidy, de novo X-autosome translocation or de novo CCR. Genetic counseling of a de novo simple reciprocal translocation at amniocentesis remains difficult because approximately one-fourth of the parents opt for termination of the pregnancy, and detailed ultrasonography and array comparative genomic hybridization are helpful for parental counseling under such circumstances.

  12. Partitioning heritability by functional category using GWAS summary statistics

    DEFF Research Database (Denmark)

    Finucane, Hilary K.; Bulik-Sullivan, Brendan; Gusev, Alexander

    2015-01-01

    in genome-wide association studies (GWAS) of 17 complex diseases and traits with an average sample size of 73,599. To enable this analysis, we introduce a new method, stratified LD score regression, for partitioning heritability from GWAS summary statistics while accounting for linked markers. This new...... type-specific enrichments, including significant enrichment of central nervous system cell types in the heritability of body mass index, age at menarche, educational attainment and smoking behavior....

  13. Polymer translocation through nanopore into active bath

    Science.gov (United States)

    Pu, Mingfeng; Jiang, Huijun; Hou, Zhonghuai

    2016-11-01

    Polymer translocation through nanopores into a crowded environment is of ubiquitous importance in many biological processes. Here we investigate polymer translocation through a nanopore into an active bath of self-propelled particles in two-dimensional space using Langevin dynamics simulations. Interestingly, we find that the mean translocation time can show a bell-shape dependence on the particle activity Fa at a fixed volume fraction ϕ, indicating that the translocation process may become slower for small activity compared to the case of the passive media, and only when the particle activity becomes large enough can the translocation process be accelerated. In addition, we also find that can show a minimum as a function of ϕ if the particle activity is large enough, implying that an intermediate volume fraction of active particles is most favorable for the polymer translocation. Detailed analysis reveals that such nontrivial behaviors result from the two-fold effect of active bath: one that active particles tend to accumulate near the pore, providing an extra pressure hindering the translocation, and the other that they also aggregate along the polymer chain, generating an effective pulling force accelerating the translocation. Such results demonstrate that active bath plays rather subtle roles on the polymer translocation process.

  14. Translocations affecting human immunoglobulin heavy chain locus

    Directory of Open Access Journals (Sweden)

    Sklyar I. V.

    2014-03-01

    Full Text Available Translocations involving human immunoglobulin heavy chain (IGH locus are implicated in different leukaemias and lymphomas, including multiple myeloma, mantle cell lymphoma, Burkitt’s lymphoma and diffuse large B cell lymphoma. We have analysed published data and identified eleven breakpoint cluster regions (bcr related to these cancers within the IgH locus. These ~1 kbp bcrs are specific for one or several types of blood cancer. Our findings could help devise PCR-based assays to detect cancer-related translocations, to identify the mechanisms of translocations and to help in the research of potential translocation partners of the immunoglobulin locus at different stages of B-cell differentiation.

  15. Haloarchaeal Protein Translocation via the Twin Arginine Translocation Pathway

    Energy Technology Data Exchange (ETDEWEB)

    Pohlschroder Mechthild

    2009-02-03

    Protein transport across hydrophobic membranes that partition cellular compartments is essential in all cells. The twin arginine translocation (Tat) pathway transports proteins across the prokaryotic cytoplasmic membranes. Distinct from the universally conserved Sec pathway, which secretes unfolded proteins, the Tat machinery is unique in that it secretes proteins in a folded conformation, making it an attractive pathway for the transport and secretion of heterologously expressed proteins that are Sec-incompatible. During the past 7 years, the DOE-supported project has focused on the characterization of the diversity of bacterial and archaeal Tat substrates as well as on the characterization of the Tat pathway of a model archaeon, Haloferax volcanii, a member of the haloarchaea. We have demonstrated that H. volcanii uses this pathway to transport most of its secretome.

  16. Heritabilities of somatotype components in a population from rural Mozambique.

    Science.gov (United States)

    Saranga, Sílvio Pedro José; Prista, António; Nhantumbo, Leonardo; Beunen, Gaston; Rocha, Jorge; Williams-Blangero, Sarah; Maia, José A

    2008-01-01

    There have been few genetic studies of normal variation in body size and composition conducted in Africa. In particular, the genetic determinants of somatotype remain to be established for an African population. (1) To estimate the heritabilities of aspects of somatotype and (2) to compare the quantitative genetic effects in an African population to those that have been assessed in European and American populations. The sample composed of 329 subjects (173 males and 156 females) aged 7-17 years, belonging to 132 families. The sibships in the sample ranged in size from two to seven individuals. All sampled individuals were residents of the Calanga region, an area located to the north of Maputo in Mozambique. Somatotype was assessed using the Heath-Carter technique. Herit abilities were estimated using SAGE software. Moderate heritabilities were determined for each trait. Between 30 and 40% of the variation in each somatotype measure was attributable to genetic factors. The heritability of ectomorphy was 31%. Mesomorphy was similarly moderately heritable, with approximately 30% of the variationattributable to genetic factors. The heritability of endomorph was higher in the Calanga population (h(2) = 0.40). Quantitative genetic analyses of somatotype variation among siblings indicate that genetic factors significantly influence endomorphy, mesomorhpy, and ectomorphy. However, environmental factors also have significant effects on the variation in physique present in the population of Calanga. Lack of proper nutrition, housing, medical assistance, and primary health care, together with very demanding and sex-specific daily chores may contribute to the environmental effects on these traits.

  17. Heritability of compulsive Internet use in adolescents.

    Science.gov (United States)

    Vink, Jacqueline M; van Beijsterveldt, Toos C E M; Huppertz, Charlotte; Bartels, Meike; Boomsma, Dorret I

    2016-03-01

    Over the past decades, Internet use has grown substantially, and it now serves people as a supportive tool that is used regularly and-in large parts of the world-inevitably. Some people develop problematic Internet use, which may lead to addictive behavior and it is becoming important to explore the risk factors for compulsive Internet use. Data were analyzed on compulsive Internet use [with the Compulsive Internet Use Scale (CIUS)] from 5247 monozygotic (MZ) and dizygotic (DZ) adolescent twins registered with the Netherlands Twin Register. The participants form a sample that is informative for genetic analyses, allowing the investigation of the causes of individual differences in compulsive Internet use. The internal consistency of the instrument was high and the 1.6-year test-retest correlation in a subsample (n = 902) was 0.55. CIUS scores increased slightly with age. Remarkably, gender did not explain variation in CIUS scores, as mean scores on the CIUS were the same in boys and girls. However, the time spent on specific Internet activities differed: boys spent more time on gaming, whereas girls spent more time on social network sites and chatting. The heritability estimates were the same for boys and girls: 48 percent of the individual differences in CIUS score were influenced by genetic factors. The remaining variance (52 percent) was due to environmental influences that were not shared between family members. Because a life without Internet is almost impossible nowadays, it is important to further explore the determinants of compulsive Internet use, including genetic risk factors. © 2015 The Authors. Addiction Biology published by John Wiley & Sons Ltd on behalf of Society for the Study of Addiction.

  18. Heritability of compulsive Internet use in adolescents

    Science.gov (United States)

    van Beijsterveldt, Toos C. E. M.; Huppertz, Charlotte; Bartels, Meike; Boomsma, Dorret I.

    2015-01-01

    Abstract Over the past decades, Internet use has grown substantially, and it now serves people as a supportive tool that is used regularly and—in large parts of the world—inevitably. Some people develop problematic Internet use, which may lead to addictive behavior and it is becoming important to explore the risk factors for compulsive Internet use. Data were analyzed on compulsive Internet use [with the Compulsive Internet Use Scale (CIUS)] from 5247 monozygotic (MZ) and dizygotic (DZ) adolescent twins registered with the Netherlands Twin Register. The participants form a sample that is informative for genetic analyses, allowing the investigation of the causes of individual differences in compulsive Internet use. The internal consistency of the instrument was high and the 1.6‐year test–retest correlation in a subsample (n = 902) was 0.55. CIUS scores increased slightly with age. Remarkably, gender did not explain variation in CIUS scores, as mean scores on the CIUS were the same in boys and girls. However, the time spent on specific Internet activities differed: boys spent more time on gaming, whereas girls spent more time on social network sites and chatting. The heritability estimates were the same for boys and girls: 48 percent of the individual differences in CIUS score were influenced by genetic factors. The remaining variance (52 percent) was due to environmental influences that were not shared between family members. Because a life without Internet is almost impossible nowadays, it is important to further explore the determinants of compulsive Internet use, including genetic risk factors. PMID:25582809

  19. Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for Thirteen Cancer Types

    NARCIS (Netherlands)

    Sampson, Joshua N; Wheeler, William A; Yeager, Meredith; Panagiotou, Orestis; Wang, Zhaoming; Berndt, Sonja I; Lan, Qing; Abnet, Christian C; Amundadottir, Laufey T; Figueroa, Jonine D; Landi, Maria Teresa; Mirabello, Lisa; Savage, Sharon A; Taylor, Philip R; Vivo, Immaculata De; McGlynn, Katherine A; Purdue, Mark P; Rajaraman, Preetha; Adami, Hans-Olov; Ahlbom, Anders; Albanes, Demetrius; Amary, Maria Fernanda; An, She-Juan; Andersson, Ulrika; Andriole, Gerald; Andrulis, Irene L; Angelucci, Emanuele; Ansell, Stephen M; Arici, Cecilia; Armstrong, Bruce K; Arslan, Alan A; Austin, Melissa A; Baris, Dalsu; Barkauskas, Donald A; Bassig, Bryan A; Becker, Nikolaus; Benavente, Yolanda; Benhamou, Simone; Berg, Christine; Van Den Berg, David; Bernstein, Leslie; Bertrand, Kimberly A; Birmann, Brenda M; Black, Amanda; Boeing, Heiner; Boffetta, Paolo; Boutron-Ruault, Marie-Christine; Bracci, Paige M; Brinton, Louise; Brooks-Wilson, Angela R; Bueno-de-Mesquita, H Bas; Burdett, Laurie; Buring, Julie; Butler, Mary Ann; Cai, Qiuyin; Cancel-Tassin, Geraldine; Canzian, Federico; Carrato, Alfredo; Carreon, Tania; Carta, Angela; Chan, John K C; Chang, Ellen T; Chang, Gee-Chen; Chang, I-Shou; Chang, Jiang; Chang-Claude, Jenny; Chen, Chien-Jen; Chen, Chih-Yi; Chen, Chu; Chen, Chung-Hsing; Chen, Constance; Chen, Hongyan; Chen, Kexin; Chen, Kuan-Yu; Chen, Kun-Chieh; Chen, Ying; Chen, Ying-Hsiang; Chen, Yi-Song; Chen, Yuh-Min; Chien, Li-Hsin; Chirlaque, María-Dolores; Choi, Jin Eun; Choi, Yi Young; Chow, Wong-Ho; Chung, Charles C; Clavel, Jacqueline; Clavel-Chapelon, Françoise; Cocco, Pierluigi; Colt, Joanne S; Comperat, Eva; Conde, Lucia; Connors, Joseph M; Conti, David; Cortessis, Victoria K; Cotterchio, Michelle; Cozen, Wendy; Crouch, Simon; Crous-Bou, Marta; Cussenot, Olivier; Davis, Faith G; Ding, Ti; Diver, W Ryan; Dorronsoro, Miren; Dossus, Laure; Duell, Eric J; Ennas, Maria Grazia; Erickson, Ralph L; Feychting, Maria; Flanagan, Adrienne M; Foretova, Lenka; Fraumeni, Joseph F; Freedman, Neal D; Beane Freeman, Laura E; Fuchs, Charles; Gago-Dominguez, Manuela; Gallinger, Steven; Gao, Yu-Tang; Gapstur, Susan M; Garcia-Closas, Montserrat; García-Closas, Reina; Gascoyne, Randy D; Gastier-Foster, Julie; Gaudet, Mia M; Gaziano, J Michael; Giffen, Carol; Giles, Graham G; Giovannucci, Edward; Glimelius, Bengt; Goggins, Michael; Gokgoz, Nalan; Goldstein, Alisa M; Gorlick, Richard; Gross, Myron; Grubb, Robert; Gu, Jian; Guan, Peng; Gunter, Marc; Guo, Huan; Habermann, Thomas M; Haiman, Christopher A; Halai, Dina; Hallmans, Goran; Hassan, Manal; Hattinger, Claudia; He, Qincheng; He, Xingzhou; Helzlsouer, Kathy; Henderson, Brian; Henriksson, Roger; Hjalgrim, Henrik; Hoffman-Bolton, Judith; Hohensee, Chancellor; Holford, Theodore R; Holly, Elizabeth A; Hong, Yun-Chul; Hoover, Robert N; Horn-Ross, Pamela L; Hosain, G M Monawar; Hosgood, H Dean; Hsiao, Chin-Fu; Hu, Nan; Hu, Wei; Hu, Zhibin; Huang, Ming-Shyan; Huerta, Jose-Maria; Hung, Jen-Yu; Hutchinson, Amy; Inskip, Peter D; Jackson, Rebecca D; Jacobs, Eric J; Jenab, Mazda; Jeon, Hyo-Sung; Ji, Bu-Tian; Jin, Guangfu; Jin, Li; Johansen, Christoffer; Johnson, Alison; Jung, Yoo Jin; Kaaks, Rudolph; Kamineni, Aruna; Kane, Eleanor; Kang, Chang Hyun; Karagas, Margaret R; Kelly, Rachel S; Khaw, Kay-Tee; Kim, Christopher; Kim, Hee Nam; Kim, Jin Hee; Kim, Jun Suk; Kim, Yeul Hong; Kim, Young Tae; Kim, Young-Chul; Kitahara, Cari M; Klein, Alison P; Klein, Robert J; Kogevinas, Manolis; Kohno, Takashi; Kolonel, Laurence N; Kooperberg, Charles; Kricker, Anne; Krogh, Vittorio; Kunitoh, Hideo; Kurtz, Robert C; Kweon, Sun-Seog; LaCroix, Andrea; Lawrence, Charles; Lecanda, Fernando; Lee, Victor Ho Fun; Li, Donghui; Li, Haixin; Li, Jihua; Li, Yao-Jen; Li, Yuqing; Liao, Linda M; Liebow, Mark; Lightfoot, Tracy; Lim, Wei-Yen; Lin, Chien-Chung; Lin, Dongxin; Lindstrom, Sara; Linet, Martha S; Link, Brian K; Liu, Chenwei; Liu, Jianjun; Liu, Li; Ljungberg, Börje; Lloreta, Josep; Lollo, Simonetta Di; Lu, Daru; Lund, Eiluv; Malats, Nuria; Mannisto, Satu; Marchand, Loic Le; Marina, Neyssa; Masala, Giovanna; Mastrangelo, Giuseppe; Matsuo, Keitaro; Maynadie, Marc; McKay, James; McKean-Cowdin, Roberta; Melbye, Mads; Melin, Beatrice S; Michaud, Dominique S; Mitsudomi, Tetsuya; Monnereau, Alain; Montalvan, Rebecca; Moore, Lee E; Mortensen, Lotte Maxild; Nieters, Alexandra; North, Kari E; Novak, Anne J; Oberg, Ann L; Offit, Kenneth; Oh, In-Jae; Olson, Sara H; Palli, Domenico; Pao, William; Park, In Kyu; Park, Jae Yong; Park, Kyong Hwa; Patiño-Garcia, Ana; Pavanello, Sofia; Peeters, Petra H M; Perng, Reury-Perng; Peters, Ulrike; Petersen, Gloria M; Picci, Piero; Pike, Malcolm C; Porru, Stefano; Prescott, Jennifer; Prokunina-Olsson, Ludmila; Qian, Biyun; Qiao, You-Lin; Rais, Marco; Riboli, Elio; Riby, Jacques; Risch, Harvey A; Rizzato, Cosmeri; Rodabough, Rebecca; Roman, Eve; Roupret, Morgan; Ruder, Avima M; Sanjose, Silvia de; Scelo, Ghislaine; Schned, Alan; Schumacher, Fredrick; Schwartz, Kendra; Schwenn, Molly; Scotlandi, Katia; Seow, Adeline; Serra, Consol; Serra, Massimo; Sesso, Howard D; Setiawan, Veronica Wendy; Severi, Gianluca; Severson, Richard K; Shanafelt, Tait D; Shen, Hongbing; Shen, Wei; Shin, Min-Ho; Shiraishi, Kouya; Shu, Xiao-Ou; Siddiq, Afshan; Sierrasesúmaga, Luis; Sihoe, Alan Dart Loon; Skibola, Christine F; Smith, Alex; Smith, Martyn T; Southey, Melissa C; Spinelli, John J; Staines, Anthony; Stampfer, Meir; Stern, Marianna C; Stevens, Victoria L; Stolzenberg-Solomon, Rachael S; Su, Jian; Su, Wu-Chou; Sund, Malin; Sung, Jae Sook; Sung, Sook Whan; Tan, Wen; Tang, Wei; Tardón, Adonina; Thomas, David; Thompson, Carrie A; Tinker, Lesley F; Tirabosco, Roberto; Tjønneland, Anne; Travis, Ruth C; Trichopoulos, Dimitrios; Tsai, Fang-Yu; Tsai, Ying-Huang; Tucker, Margaret; Turner, Jenny; Vajdic, Claire M; Vermeulen, Roel C H|info:eu-repo/dai/nl/216532620; Villano, Danylo J; Vineis, Paolo; Virtamo, Jarmo; Visvanathan, Kala; Wactawski-Wende, Jean; Wang, Chaoyu; Wang, Chih-Liang; Wang, Jiu-Cun; Wang, Junwen; Wei, Fusheng; Weiderpass, Elisabete; Weiner, George J; Weinstein, Stephanie; Wentzensen, Nicolas; White, Emily; Witzig, Thomas E; Wolpin, Brian M; Wong, Maria Pik; Wu, Chen; Wu, Guoping; Wu, Junjie; Wu, Tangchun; Wu, Wei; Wu, Xifeng; Wu, Yi-Long; Wunder, Jay S; Xiang, Yong-Bing; Xu, Jun; Xu, Ping; Yang, Pan-Chyr; Yang, Tsung-Ying; Ye, Yuanqing; Yin, Zhihua; Yokota, Jun; Yoon, Ho-Il; Yu, Chong-Jen; Yu, Herbert; Yu, Kai; Yuan, Jian-Min; Zelenetz, Andrew; Zeleniuch-Jacquotte, Anne; Zhang, Xu-Chao; Zhang, Yawei; Zhao, Xueying; Zhao, Zhenhong; Zheng, Hong; Zheng, Tongzhang; Zheng, Wei; Zhou, Baosen; Zhu, Meng; Zucca, Mariagrazia; Boca, Simina M; Cerhan, James R; Ferri, Giovanni M; Hartge, Patricia; Hsiung, Chao Agnes; Magnani, Corrado; Miligi, Lucia; Morton, Lindsay M; Smedby, Karin E; Teras, Lauren R; Vijai, Joseph; Wang, Sophia S; Brennan, Paul; Caporaso, Neil E; Hunter, David J; Kraft, Peter; Rothman, Nathaniel; Silverman, Debra T; Slager, Susan L; Chanock, Stephen J; Chatterjee, Nilanjan

    2015-01-01

    BACKGROUND: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites.

  20. Translocality in Global Software Development

    DEFF Research Database (Denmark)

    Bjørn, Pernille; Søderberg, Anne-Marie; Krishna, S.

    2017-01-01

    What happens when agile methods are introduced in global outsourcing set-ups? Agile methods are designed to empower IT developers in decision-making through self-managing collocated teams. We studied how agile methods were introduced into global outsourcing from the Indian IT vendor’s perspective....... We explored how agile processes in global outsourcing impacts work conditions of the Indian IT developers, and were surprised to find that agile methodologies, even after 3 years of implementation, created a stressful and inflexible work environment negatively impacting their personal lives. Many...... of the negative aspects of work, which agile methodologies were developed to reduce, were evident in the global agile outsourcing set-up. We propose translocality to repudiate the dichotomy of global/local reminding us that methodologies and technologies must be understood as immediately localized and situated...

  1. Translocations used to generate chromosome segment duplications ...

    Indian Academy of Sciences (India)

    Supplementary figure 1. (a–i) Putative novel genes created by the breakpoints. Translocation chromosomes are shown with the translocated segment indicated in red and the untranslocated segments in black or blue. Purple arrows indicate whether the chromosome is a donor (arrow pointing up) or a recipient (arrow ...

  2. Translocations used to generate chromosome segment duplications ...

    Indian Academy of Sciences (India)

    progeny bearing a duplication (Dp) of the translocated chromosome segment. Here, 30 ... [Singh P K, Iyer V S, Sowjanya T N, Raj B K and Kasbekar D P 2010 Translocations used to generate chromosome segment duplications in. Neurospora can ... of this work, namely, the definition of breakpoint junction sequences of 12 ...

  3. RNA polymerase stalls in a post-translocated register and can hyper-translocate.

    Science.gov (United States)

    Nedialkov, Yuri A; Nudler, Evgeny; Burton, Zachary F

    2012-01-01

    Exonuclease (Exo) III was used to probe translocation states of RNA polymerase (RNAP) ternary elongation complexes (TECs). Escherichia coli RNAP stalls primarily in a post-translocation register that makes relatively slow excursions to a hyper-translocated state or to a pre-translocated state. Tagetitoxin (TGT) strongly inhibits hyper-translocation and inhibits backtracking, so, as indicated by Exo III mapping, TGT appears to stabilize both the pre- and probably a partially post-translocation state of RNAP. Because the pre-translocated to post-translocated transition is slow at many template positions, these studies appear inconsistent with a model in which RNAP makes frequent and rapid (i.e., millisecond phase) oscillations between pre- and post-translocation states. Nine nucleotides (9-nt) and 10-nt TECs, and TECs with longer nascent RNAs, have distinct translocation properties consistent with a 9-10 nt RNA/DNA hybrid. RNAP mutant proteins in the bridge helix and trigger loop are identified that inhibit or stimulate forward and backward translocation.

  4. Heritability of QT interval : How much is explained by genes for resting heart rate? Heritability of QT interval: How much is explained by genes for resting heart rate?

    NARCIS (Netherlands)

    Dalageorgou, Chrysoula; Ge, Dongliang; Jamshidi, Yalda; Nolte, Ilja M.; Riese, Harriette; Savelieva, Irina; Carter, Nicholas D.; Spector, Tim D.; Snieder, Harold

    Heritability of QT Interval. Introduction: Objective of this study was to determine the optimal (most heritable) phenotype for gene finding studies of QT interval in the general population. We also studied the extent to which heritability of QT interval can be explained by genes that also influence

  5. Habitat drives dispersal and survival of translocated juvenile desert tortoises

    Science.gov (United States)

    Nafus, Melia G.; Esque, Todd C.; Averill-Murray, Roy C.; Nussear, Kenneth E.; Swaisgood, Ronald R.

    2017-01-01

    1.In spite of growing reliance on translocations in wildlife conservation, translocation efficacy remains inconsistent. One factor that can contribute to failed translocations is releasing animals into poor quality or otherwise inadequate habitat.

  6. Genetic variance components and heritability of multiallelic heterozygosity under inbreeding

    Science.gov (United States)

    Nietlisbach, P; Keller, L F; Postma, E

    2016-01-01

    The maintenance of genetic diversity in fitness-related traits remains a central topic in evolutionary biology, for example, in the context of sexual selection for genetic benefits. Among the solutions that have been proposed is directional sexual selection for heterozygosity. The importance of such selection is highly debated. However, a critical evaluation requires knowledge of the heritability of heterozygosity, a quantity that is rarely estimated in this context, and often assumed to be zero. This is at least partly the result of the lack of a general framework that allows for its quantitative prediction in small and inbred populations, which are the focus of most empirical studies. Moreover, while current predictors are applicable only to biallelic loci, fitness-relevant loci are often multiallelic, as are the neutral markers typically used to estimate genome-wide heterozygosity. To this end, we first review previous, but little-known, work showing that under most circumstances, heterozygosity at biallelic loci and in the absence of inbreeding is heritable. We then derive the heritability of heterozygosity and the underlying variances for multiple alleles and any inbreeding level. We also show that heterozygosity at multiallelic loci can be highly heritable when allele frequencies are unequal, and that this heritability is reduced by inbreeding. Our quantitative genetic framework can provide new insights into the evolutionary dynamics of heterozygosity in inbred and outbred populations. PMID:26174022

  7. Spondylosis deformans in the boxer: estimates of heritability.

    Science.gov (United States)

    Langeland, M; Lingaas, F

    1995-04-01

    This study presents the estimates of heritability for spondylosis deformans in the boxer based on 353 offspring from 24 randomly selected sires, each with at least three radiographically investigated offspring. The estimated heritability (h2) for maximum degree of osteophyte development was high, both when estimated by paternal half-sib correlation (0.42) and by the regression of offspring based on the parents (0.62). The heritability for the number of affected discs estimated by paternal half-sib correlation was also high (0.47). The estimate of heritability for the number of affected discs based on regression of offspring on the parents was lower at 0.13. All heritabilities had large standard errors. A positive phenotypic correlation between spondylosis deformans and hip dysplasia was observed. Assuming a significant portion of the correlation is genetic, this fact may permit selection against spondylosis deformans without negatively influencing the incidence of hip dysplasia. Since the incidence of spondylosis deformans is high even in young dogs, it should be possible to detect a large proportion of genetically predisposed animals by radiographic examination of the spine at one year of age; at the same time that dogs are presented for a routine test for hip dysplasia.

  8. Balanced reciprocal translocation 5,18: a case report

    Directory of Open Access Journals (Sweden)

    Shahram Savad

    2014-05-01

    Conclusion: A balanced reciprocal translocation carrier is phenotypically normal, but during meiosis І, carrier chromosomes cant pair normally and form quadrivalant instead of bivalant that depend on type of their segregation (alternate, adjacent 1, adjacent 2,3:1,4:0, produce gametes that are chromosomally unbalanced which can result in early fetus abortion. Considering the number of abnormal gametes, the most effective way to help couples with this problem seems to be PGD 24sure, since it can identify reciprocal and Robertsonian translocation and allows concurrent screening of all chromosomes for aneuploidy. Another technique that can be compared with PGD 24sure is fluorescence in situ hybridization (FISH, but it has several technical limitations such as it is expensive and complexity, in addition it has only few probes (for chromosomes 21, 13, 18, X, Y so sometimes necessary to create patient specific protocols.

  9. The Social Construction of Guangzhou as a Translocal Trading Place

    Directory of Open Access Journals (Sweden)

    Angelo Gilles

    2015-01-01

    Full Text Available Guangzhou has become a key destination for sub-Saharan African traders. These traders have established multilocal forms of business organisation and, in so doing, have developed diverse practices to overcome geographical, political and cultural boundaries. This paper focuses on these practices, looking at the ways in which the movements, relations and interactions within these organisational formations are produced, transformed and lived. A close ethnographic examination was made of the livelihoods of 33 African traders from 13 sub-Saharan African countries. Through the concept of trans-locality, the organisational formations of these Africans are conceptualised as links between different places on a larger geographical scale; these links then meet on a local scale in the specific place of Guangzhou. Following a relational understanding of spatial constructions in social science, these links are conceptualised as one of the main drivers for the social construction and transformation of the city as a trans-local trading place.

  10. Heritability of racing performance in the Australian Thoroughbred racing population.

    Science.gov (United States)

    Velie, B D; Hamilton, N A; Wade, C M

    2015-02-01

    Performance data for 164,046 Thoroughbreds entered in a race or official barrier trial in Australia were provided by Racing Information Services Australia. Analyses estimating the heritability for a range of racing performance traits using a single-trait animal model were performed using ASREML-R. Log of cumulative earnings (LCE; 0.19 ± 0.01), log of earnings per race start (0.23 ± 0.02) and best race distance (0.61 ± 0.03) were all significantly heritable. Fixed effects for sex were significant (P racing industry, contemporary heritability estimates from the current population of Thoroughbreds will play a vital role in identifying which traits are better suited to selection and in the development of more accurate genomic evaluations for racing performance. © 2014 Stichting International Foundation for Animal Genetics.

  11. Computer simulations and theory of protein translocation.

    Science.gov (United States)

    Makarov, Dmitrii E

    2009-02-17

    The translocation of proteins through pores is central to many biological phenomena, such as mitochondrial protein import, protein degradation, and delivery of protein toxins to their cytosolic targets. Because proteins typically have to pass through constrictions that are too narrow to accommodate folded structures, translocation must be coupled to protein unfolding. The simplest model that accounts for such co-translocational unfolding assumes that both translocation and unfolding are accomplished by pulling on the end of the polypeptide chain mechanically. In this Account, we describe theoretical studies and computer simulations of this model and discuss how the time scales of translocation depend on the pulling force and on the protein structure. Computationally, this is a difficult problem because biologically or experimentally relevant time scales of translocation are typically orders of magnitude slower than those accessible by fully atomistic simulations. For this reason, we explore one-dimensional free energy landscapes along suitably defined translocation coordinates and discuss various approaches to their computation. We argue that the free energy landscape of translocation is often bumpy because confinement partitions the protein's configuration space into distinct basins of attraction separated by large entropic barriers. Favorable protein-pore interactions and nonnative interactions within the protein further contribute to the complexity. Computer simulations and simple scaling estimates show that forces of just 2-6 pN are often sufficient to ensure transport of unstructured polypeptides, whereas much higher forces are typically needed to translocate folded protein domains. The unfolding mechanisms found from simulations of translocation are different from those observed in the much better understood case of atomic force microscopy (AFM) pulling studies, in which proteins are unraveled by stretching them between their N- and C-termini. In contrast to

  12. Evidence for a heritable unidimensional symptom factor underlying obsessionality.

    Science.gov (United States)

    Mathews, Carol A; Greenwood, Tiffany; Wessel, Jennifer; Azzam, Amin; Garrido, Helena; Chavira, Denise A; Chandavarkar, Uma; Bagnarello, Monica; Stein, Murray; Schork, Nicholas J

    2008-09-05

    The division of obsessive-compulsive symptoms (OCS) into specific factors is now widely accepted. However, the utility of these categories for genetic studies remains unclear, as studies examining their heritability have been inconsistent. Less attention has been paid to the possibility that clinically significant obsessionality is primarily determined by a "core" group of OCS that crosses the boundaries between symptom subgroups. The aim of this study is to determine whether such a core group exists, and to compare its heritability to that of the more traditionally derived symptom factors. We examined the properties and heritability of obsessive-compulsive symptoms in college students, medical students, and obsessive-compulsive disorder (OCD) families using the Leyton Obsessional Inventory. In each of the three samples, we identified a core group of symptoms that comprised a single unique construct and accounted for over 90% of the variation of the four more traditional symptom factors. This core construct was highly correlated with OCD in our families and had a heritability estimate of 0.19 when OCD was not included as a covariate and 0.49 when OCD was included as a covariate. In contrast, the four symptom factors were not heritable. There appears to be an underlying unidimensional component to obsessionality, both in non-clinical and clinical samples. This component, which is heritable, accounts for the majority of the variation of the more traditionally derived symptom factors in our sample, and is composed of OCS that are not specific to any of the symptom subgroups. 2007 Wiley-Liss, Inc.

  13. DNA nanopore translocation in glutamate solutions

    NARCIS (Netherlands)

    Plesa, C.; Van Loo, N.; Dekker, C.

    2015-01-01

    Nanopore experiments have traditionally been carried out with chloride-based solutions. Here we introduce silver/silver-glutamate-based electrochemistry as an alternative, and study the viscosity, conductivity, and nanopore translocation characteristics of potassium-, sodium-, and lithium-glutamate

  14. Dudleya Variegata Translocation - San Diego [ds654

    Data.gov (United States)

    California Department of Resources — At Mission Trails Regional Park, a translocation project of Dudleya variegata was conducted in efforts to save the population from a private property undergoing...

  15. Genetic variation and heritability of the antibody response to Mycobacterium avium subspecies paratuberculosis in Danish Hostein cows

    DEFF Research Database (Denmark)

    Mortensen, Hanne; Nielsen, Søren Saxmose; Berg, Peer

    2004-01-01

    The purpose of this study was to estimate the genetic variation and the heritability of the ability to establish an immune response by producing antibodies to Mycobacterium avium subsp. paratuberculosis. Antibody levels were determined using an ELISA and measuring optical density (OD) values from...... milk samples of 11,535 cows from 99 herds. The pedigree of the 11,535 cows and information about days in milk, parity, milk yield, and others were obtained from the Danish Cattle database. The statistical analyses were made using a bivariate mixed animal model. The bivariate model with daily milk yield...... and OD as dependent variables showed a significant heritability of the ability to produce Mycobacterium avium subsp. paratuberculosis antibodies of 0.102 (genetic variance = 0.054) and a nonsignificant genetic correlation of −0.037 between daily milk yield and OD. When a sire model was used...

  16. Translocation of polymers in a lattice model.

    Science.gov (United States)

    Zurek, S; Kośmider, M; Drzewiński, A; van Leeuwen, J M J

    2012-06-01

    Voltage-driven polymer translocation is studied by means of a stochastic lattice model. The model incorporates voltage drop over the membrane as a bias in the hopping rate through the pore and exhibits the two main ingredients of the translocation process: driven motion through the pore and diffusive supply of chain length towards the pore on the cis-side and the drift away from the pore on the trans-side. The translocation time is either bias limited or diffusion limited. In the bias-limited regime the translocation time is inversely proportional to the voltage drop over the membrane. In the diffusion-limited regime the translocation time is independent of the applied voltage, but it is rather sensitive to the motion rules of the model. We find that the whole regime is well described by a single curve determined by the initial slope and the saturation value. The dependence of these parameters on the length of the chain, the motion rules and the repton statistics are established. Repulsion of reptons as well as the increase of chain length decrease the throughput of the polymer through the pore. As for free polymers, the inclusion of a mechanism for hernia creations/annihilations leads to the cross-over from Rouse-like behaviour to reptation. For the experimentally most relevant case (Rouse dynamics) the bimodal power law dependence of the translocation time on the chain length is found.

  17. Stress and translocation: alterations in the stress physiology of translocated birds

    Science.gov (United States)

    Dickens, Molly J.; Delehanty, David J.; Romero, L. Michael

    2009-01-01

    Translocation and reintroduction have become major conservation actions in attempts to create self-sustaining wild populations of threatened species. However, avian translocations have a high failure rate and causes for failure are poorly understood. While ‘stress’ is often cited as an important factor in translocation failure, empirical evidence of physiological stress is lacking. Here we show that experimental translocation leads to changes in the physiological stress response in chukar partridge, Alectoris chukar. We found that capture alone significantly decreased the acute glucocorticoid (corticosterone, CORT) response, but adding exposure to captivity and transport further altered the stress response axis (the hypothalamic–pituitary–adrenal axis) as evident from a decreased sensitivity of the negative feedback system. Animals that were exposed to the entire translocation procedure, in addition to the reduced acute stress response and disrupted negative feedback, had significantly lower baseline CORT concentrations and significantly reduced body weight. These data indicate that translocation alters stress physiology and that chronic stress is potentially a major factor in translocation failure. Under current practices, the restoration of threatened species through translocation may unwittingly depend on the success of chronically stressed individuals. This conclusion emphasizes the need for understanding and alleviating translocation-induced chronic stress in order to use most effectively this important conservation tool. PMID:19324794

  18. Variablity, heritability and genetic advance in quantitative traits of Tef ...

    African Journals Online (AJOL)

    Seventy nine tef populations collected from ten administrative regions and seven altitude classes were planted with two improved varieties in simple lattice design at Gute and Bako during 2007 and 2008 cropping season, respectively, to assess variability, and estimate heritability and genetic advance of quantitative traits.

  19. Genetic variability and heritability studies of some reproductive traits ...

    African Journals Online (AJOL)

    The success of most crop improvement programs largely depends upon the genetic variability and the heritability of desirable traits. The magnitude and type of genetic variability help the breeder to determine the selection criteria and breeding schemes to be used for improvement purposes. A screen house experiment was ...

  20. heterosis and heritability estimates of purine alkaloids and ...

    African Journals Online (AJOL)

    ACSS

    to disease and to insect pest, or to climatic rigours. (Rhode etal., 2004; Korn et al., 2008). Despite the fact that purine alkaloids and flavanols are signature component in cocoa beans, little information is available on heterosis of these traits in cocoa. Another important genetic factor used by breeders is heritability. This term ...

  1. Childhood and Adolescent Anxiety and Depression: Beyond Heritability

    Science.gov (United States)

    Franic, Sanja; Middeldorp, Christel M.; Dolan, Conor V.; Ligthart, Lannie; Boomsma, Dorret I.

    2010-01-01

    Objective: To review the methodology of behavior genetics studies addressing research questions that go beyond simple heritability estimation and illustrate these using representative research on childhood and adolescent anxiety and depression. Method: The classic twin design and its extensions may be used to examine age and gender differences in…

  2. A Note on the Heritability of Memory Span.

    Science.gov (United States)

    Jensen, Arthur R.; Marisi, Daniel Q.

    The contribution of heredity to scores on a digit span intelligence test, Jensen's Memory for Numbers, was estimated with a standard heritability formula. The test measures level I mental ability--the capacity to store and recall, but not ability to elaborate or manipulate stimuli. Subjects were 35 monozygotic (MZ) twins and 35 same-sex dizygotic…

  3. Equality in Educational Policy and the Heritability of Educational Attainment.

    Science.gov (United States)

    Colodro-Conde, Lucía; Rijsdijk, Frühling; Tornero-Gómez, María J; Sánchez-Romera, Juan F; Ordoñana, Juan R

    2015-01-01

    Secular variation in the heritability of educational attainment are proposed to be due to the implementation of more egalitarian educational policies leading to increased equality in educational opportunities in the second part of the 20th century. The action of effect is hypothesized to be a decrease of shared environmental (e.g., family socioeconomic status or parents' education) influences on educational attainment, giving more room for genetic differences between individuals to impact on the variation of the trait. However, this hypothesis has not yet found consistent evidence. Support for this effect relies mainly on comparisons between countries adopting different educational systems or between different time periods within a country reflecting changes in general policy. Using a population-based sample of 1271 pairs of adult twins, we analyzed the effect of the introduction of a specific educational policy in Spain in 1970. The shared-environmental variance decreased, leading to an increase in heritability in the post-reform cohort (44 vs. 67%) for males. Unstandardized estimates of genetic variance were of a similar magnitude (.56 vs. .57) between cohorts, while shared environmental variance decreased from .56 to .04. Heritability remained in the same range for women (40 vs. 34%). Our results support the role of educational policy in affecting the relative weight of genetic and environmental factors on educational attainment, such that increasing equality in educational opportunities increases heritability estimates by reducing variation of non-genetic familial origin.

  4. Heritabilities of reproductive traits in a beef cattle herd using ...

    African Journals Online (AJOL)

    Unknown

    Heritabilities of reproductive traits in a beef cattle herd using multitrait analysis. R.R. van der Westhuizen. 1 ... animal, particularly in dairy cattle (Rege & Famula, 1993). However, in beef operations, ... These include lower birth weights, reduced incidence of dystocia, higher weaning and yearling weights and higher ...

  5. Heritability of carotid intima-media thickness : A twin study

    NARCIS (Netherlands)

    Zhao, Jinying; Cheema, Faiz A.; Bremner, J. Douglas; Goldberg, Jack; Su, Shaoyong; Snieder, Harold; Maisano, Carisa; Jones, Linda; Javed, Farhan; Murrah, Nancy; Le, Ngoc-Anh; Vaccarino, Viola

    Objective: To estimate the heritability of carotid intima-media thickness (IMT), a surrogate marker for atherosclerosis, independent of traditional coronary risk factors. Methods and results: We performed a classical twin study of carotid IMT using 98 middle-aged male twin pairs, 58 monozygotic (MZ)

  6. Heritability and genetic correlation of production and reproduction ...

    African Journals Online (AJOL)

    Heritability and genetic correlation of production and reproduction traits of Simmental cows. V Pantelić, L Sretenović, D Ostojić-Andrić, S Trivunović, MM Petrović, S Aleksić, D Ružić-Muslić ...

  7. Genetic variability, heritability and genetic advance of quantitative ...

    African Journals Online (AJOL)

    ONOS

    2010-05-10

    May 10, 2010 ... variability, heritability and genetic advance with significant enhancement (P 0.05 and P 0.01) in growth .... Effect of gamma rays on quantitative mean .... and genetic advance in pea. (Pisum sativum L.). Internat J. Plant Sci. 3(1): 211-212. Lush JL (1940). Intrusive collection of regression of offspring on dams.

  8. Equality in Educational Policy and the Heritability of Educational Attainment

    Science.gov (United States)

    Colodro-Conde, Lucía; Rijsdijk, Frühling; Tornero-Gómez, María J.; Sánchez-Romera, Juan F.; Ordoñana, Juan R.

    2015-01-01

    Secular variation in the heritability of educational attainment are proposed to be due to the implementation of more egalitarian educational policies leading to increased equality in educational opportunities in the second part of the 20th century. The action of effect is hypothesized to be a decrease of shared environmental (e.g., family socioeconomic status or parents’ education) influences on educational attainment, giving more room for genetic differences between individuals to impact on the variation of the trait. However, this hypothesis has not yet found consistent evidence. Support for this effect relies mainly on comparisons between countries adopting different educational systems or between different time periods within a country reflecting changes in general policy. Using a population-based sample of 1271 pairs of adult twins, we analyzed the effect of the introduction of a specific educational policy in Spain in 1970. The shared-environmental variance decreased, leading to an increase in heritability in the post-reform cohort (44 vs. 67%) for males. Unstandardized estimates of genetic variance were of a similar magnitude (.56 vs. .57) between cohorts, while shared environmental variance decreased from .56 to .04. Heritability remained in the same range for women (40 vs. 34%). Our results support the role of educational policy in affecting the relative weight of genetic and environmental factors on educational attainment, such that increasing equality in educational opportunities increases heritability estimates by reducing variation of non-genetic familial origin. PMID:26618539

  9. The heritability of depressive symptoms : multiple informants and multiple measures

    NARCIS (Netherlands)

    Happonen, M; Pulkkinen, L; Kaprio, J; Van der Meere, J; Viken, RJ; Rose, RJ

    Background: Earlier research suggests large rater differences in heritability estimates of children's depressive symptoms in the context of significant age and sex-limitation effects. Methods: With data from an ongoing, population-based twin-family study, we estimated genetic and environmental

  10. Heritability of psoriasis in a large twin sample

    DEFF Research Database (Denmark)

    Lønnberg, Ann Sophie; Skov, Liselotte; Skytthe, A

    2013-01-01

    AIM: To study the concordance of psoriasis in a population-based twin sample. METHODS: Data on psoriasis in 10,725 twin pairs, 20-71 years of age, from the Danish Twin Registry was collected via a questionnaire survey. The concordance and heritability of psoriasis were estimated. RESULTS: In total...

  11. Review Genetic prediction models and heritability estimates for ...

    African Journals Online (AJOL)

    edward

    2015-05-09

    sajas.v45i2.1. Review. Genetic prediction models and heritability estimates for functional longevity in dairy cattle. V.E. Imbayarwo-Chikosi1#, K. Dzama1, T.E. Halimani3, J.B. van Wyk4,. A. Maiwashe2 & C.B. Banga2. 1 Department ...

  12. Heritability and correlates of maize yield ( Zea mays L .) under ...

    African Journals Online (AJOL)

    The study was undertaken to estimate broad-sense heritability and correlations between grain yields and other traits in maize under non-stress, intermediate stress and severe drought stress conditions. Fifty six genotypes were evaluated in a simple lattice design with two replications during the 2012/13 dry season at ...

  13. Heritability of cold tolerance in Nile tilapia, Oreochromis niloticus, juveniles

    NARCIS (Netherlands)

    Charo-Karisa, H.; Rezk, M.A.; Bovenhuis, H.; Komen, J.

    2005-01-01

    The inability of tilapia to tolerate low temperatures is of major economic concern as it reduces their growing season and leads to over winter mortality. In this study, cold tolerance of juvenile Nile tilapia, Oreochromis niloticus, was investigated and heritability estimates obtained. A total of 80

  14. narrow sense heritability and gene effects for late leaf spot

    African Journals Online (AJOL)

    ACSS

    3Department of Food Technology and Nutrition, School of Food Technology, Nutrition and Bio-systems. Engineering, Makerere ... narrow sense heritability and gene action controlling LLS resistance in Valencia groundnut materials. The materials .... of gene actions controlling LLS resistance using. Valencia groundnut ...

  15. Narrow sense heritability and gene effects for late leaf spot ...

    African Journals Online (AJOL)

    The deployment of resistant cultivars is a better option to control this disease in groundnut. A study was conducted to determine narrow sense heritability and gene action controlling LLS resistance in Valencia groundnut materials. The materials used included six generations; F1, F2, F1 backcrosses to the susceptible ...

  16. Evaluation of Some Litter Traits and Heritability Estimates of ...

    African Journals Online (AJOL)

    SH

    indigenous pigs (NIP) from the Swine Unit of Obafemi Awolowo University Teaching and Research Farm for a period of fourteen years ... Key words: Litter traits, heritability estimates, Nigerian Indigenous Pigs, Sows. Introduction. Information on the .... and endoparasites was controlled by deworming the animals using ...

  17. Heritability of flow-mediated dilation : a twin study

    NARCIS (Netherlands)

    Zhao, J.; Cheema, F. A.; Reddy, U.; Bremner, J. D.; Su, S.; Goldberg, J.; Snieder, H.; Vaccarino, V.

    2007-01-01

    Background: Endothelial dysfunction assessed by brachial artery flow-mediated dilation (FMD) is a marker for early atherosclerotic vascular disease and future cardiovascular events.Objective: To estimate the heritability of brachial artery FMD using a twin design.Methods: We estimated the

  18. Heritability, variance components and genetic advance of some ...

    African Journals Online (AJOL)

    Eighty-eight (88) finger millet (Eleusine coracana (L.) Gaertn.) germplasm collections were tested using augmented randomized complete block design at Adet Agricultural Research Station in 2008 cropping season. The objective of this study was to find out heritability, variance components, variability and genetic advance ...

  19. Variance component and heritability estimates of early growth traits ...

    African Journals Online (AJOL)

    Restricted Maximum Likelihood (REML) procedures fitting three different models. Estimates were severely biased ... estimates for direct additive variance and heritability (h\\) when fitted simultaneously in an animal model. The genetic ..... demanding than the sire model with respect to CPU time used. For BW, 200 iterations ...

  20. Heritability of decisions and outcomes of public goods games

    Directory of Open Access Journals (Sweden)

    Kai eHiraishi

    2015-04-01

    Full Text Available Prosociality is one of the most distinctive features of human beings but there are individual differences in cooperative behavior. Employing the twin method, we examined the heritability of cooperativeness and its outcomes on public goods games using a strategy method. In two experiments (Study 1 and Study 2, twin participants were asked to indicate 1 how much they would contribute to a group when they did not know how much the other group members were contributing, and 2 how much they would contribute if they knew the contributions of others. Overall, the heritability estimates were relatively small for each type of decision, but heritability was greater when participants knew that the others had made larger contributions. Using registered decisions in Study 2, we conducted five Monte Carlo simulations to examine genetic and environmental influences on the expected game payoffs. For the simulated one-shot game, the heritability estimates were small, comparable to those of game decisions. For the simulated iterated games, we found that the genetic influences first decreased, then increased as the numbers of iterations grew. The implication for the evolution of individual differences in prosociality is discussed.

  1. The heritability of mating behaviour in a fly and its plasticity in response to the threat of sperm competition.

    Science.gov (United States)

    Bretman, Amanda; Lizé, Anne; Walling, Craig A; Price, Tom A R

    2014-01-01

    Phenotypic plasticity is a key mechanism by which animals can cope with rapidly changeable environments, but the evolutionary lability of such plasticity remains unclear. The socio-sexual environment can fluctuate very rapidly, affecting both the frequency of mating opportunities and the level of competition males may face. Males of many species show plastic behavioural responses to changes in social environment, in particular the presence of rival males. For example, Drosophila pseudoobscura males respond to rivals by extending mating duration and increasing ejaculate size. Whilst such responses are predicted to be adaptive, the extent to which the magnitude of response is heritable, and hence selectable, is unknown. We investigated this using isofemale lines of the fruit fly D. pseudoobscura, estimating heritability of mating duration in males exposed or not to a rival, and any genetic basis to the change in this trait between these environments (i.e. degree of plasticity). The two populations differed in population sex ratio, and the presence of a sex ratio distorting selfish chromosome. We find that mating duration is heritable, but no evidence of population differences. We find no significant heritability of plasticity in mating duration in one population, but borderline significant heritability of plasticity in the second. This difference between populations might be related to the presence of the sex ratio distorting selfish gene in the latter population, but this will require investigation in additional populations to draw any conclusions. We suggest that there is scope for selection to produce an evolutionary response in the plasticity of mating duration in response to rivals in D. pseudoobscura, at least in some populations.

  2. The heritability of mating behaviour in a fly and its plasticity in response to the threat of sperm competition.

    Directory of Open Access Journals (Sweden)

    Amanda Bretman

    Full Text Available Phenotypic plasticity is a key mechanism by which animals can cope with rapidly changeable environments, but the evolutionary lability of such plasticity remains unclear. The socio-sexual environment can fluctuate very rapidly, affecting both the frequency of mating opportunities and the level of competition males may face. Males of many species show plastic behavioural responses to changes in social environment, in particular the presence of rival males. For example, Drosophila pseudoobscura males respond to rivals by extending mating duration and increasing ejaculate size. Whilst such responses are predicted to be adaptive, the extent to which the magnitude of response is heritable, and hence selectable, is unknown. We investigated this using isofemale lines of the fruit fly D. pseudoobscura, estimating heritability of mating duration in males exposed or not to a rival, and any genetic basis to the change in this trait between these environments (i.e. degree of plasticity. The two populations differed in population sex ratio, and the presence of a sex ratio distorting selfish chromosome. We find that mating duration is heritable, but no evidence of population differences. We find no significant heritability of plasticity in mating duration in one population, but borderline significant heritability of plasticity in the second. This difference between populations might be related to the presence of the sex ratio distorting selfish gene in the latter population, but this will require investigation in additional populations to draw any conclusions. We suggest that there is scope for selection to produce an evolutionary response in the plasticity of mating duration in response to rivals in D. pseudoobscura, at least in some populations.

  3. Realized heritability and repeatability of risk-taking behaviour in relation to avian personalities

    NARCIS (Netherlands)

    Van Oers, K.; Drent, P.J.; De Goede, P.; Van Noordwijk, A.J.

    2004-01-01

    Personalities are general properties of humans and other animals. Different personality traits are phenotypically correlated, and heritabilities of personality traits have been reported in humans and various animals. In great tits, consistent heritable differences have been found in relation to

  4. Heritability estimations for diseases, coat color, body weight and height in a birth cohort of Boxers

    NARCIS (Netherlands)

    Nielen, A.L.J.; Janss, L.L.G.; Knol, B.W.

    2001-01-01

    Objective - To obtain heritability estimates for diseases and characteristics in Boxers. Animals - Birth cohort of 2,929 purebred Boxers from 414 litters. Procedure - Heritability estimates were determined for cheiloschisis-palatoschisis, cryptorchidism, epilepsy, stifle disorders, cardiac

  5. Heritability of hypothyroidism in the Finnish Hovawart population.

    Science.gov (United States)

    Åhlgren, Johanna; Uimari, Pekka

    2016-06-07

    The Hovawart is a working and companion dog breed of German origin. A few hundred Hovawart dogs are registered annually in Finland. The most common disease with a proposed genetic background in Hovawarts is hypothyroidism. The disease is usually caused by lymphocytic thyroiditis, an autoimmune disorder which destroys the thyroid gland. Hypothyroidism can be treated medically with hormone replacement. Its overall incidence could also be reduced through selection, provided that the trait shows an adequate genetic basis. The aim of this study was to estimate the heritability of hypothyroidism in the Finnish Hovawart population. The pedigree data for the study were provided by the Finnish Kennel Club and the hypothyroidism data by the Finnish Hovawart Club. The data included 4953 dogs born between 1990 and 2010, of which 107 had hypothyroidism and 4846 were unaffected. Prior to the estimation of heritability, we studied the effects of gender, birth year, birth month, and inbreeding on susceptibility to hypothyroidism. Heritability was estimated with the probit model both via restricted maximum likelihood (REML) and Gibbs sampling, using litter and sire of the dog as random effects. None of the studied systematic effects or level of inbreeding had a significant effect on susceptibility to hypothyroidism. The estimated heritability of hypothyroidism varied from 0.47 (SE = 0.18) using REML to 0.62 (SD = 0.21) using Gibbs sampling. Based on our analysis, the heritability of hypothyroidism is moderate to high, suggesting that its prevalence could be decreased through selection. Thus, breeders should notify the breed association of any affected dogs, and their use for breeding should be avoided.

  6. Molecular studies of free and translocation trisomy

    Energy Technology Data Exchange (ETDEWEB)

    Robinson, W.P.; Bernasconi, F.; Lefort, G. [Univ. of Zuerich (Switzerland)] [and others

    1994-09-01

    Twenty cases of trisomy 13 were examined with molecular markers to determine the origin of the extra chromosome. Six cases had translocation trisomy: two de novo rob(13q;14q), one paternally derived rob(13q;14q), two de novo t(13q;13q), and one mosaic de novo t(13q;14q), one paternally derived rob(13q;14q), two de novo t(13q;13q), and one mosaic de novo t(13q;13q)r(13). Eighteen of nineteen informative patients were consistant with a maternal origin of the extra chromosome. Lack of a third allele at any locus in any of the three t(13q;13q) cases indicate that all were most likely isochromosomes of post-meiotic origin. In addition, two free trisomy cases were compatible with a somatic origin. Two mosaic free trisomy-13 cases, however, were both consistent with a maternal meiotic origin. The patient with a paternal inheritance of the translocation chromosome was purely coincidental. Since there is not a significantly increased risk for unbalanced offspring of a t(13;14) carrier and most trisomies are maternal in origin, this result should not be surprising; however it illustrates that one cannot infer the origin of translocation trisomy based on parental origin of the translocation. One balanced (non-trisomic) case with a non-mosaic 45,-13,-13,+t(13;13) karyotype was also investigated and was determined to be a somatic Robertsonian translocation between the maternal and paternal homologs, as has been found for all homologous Robertsonian translocations so far investigated. It is therefore also incorrect to assume in de novo translocation cases that the two involved chromosomes are even from the same parent. We cannot therefore infer anything about the origin of the chromosomes 13 and 14 involved in the two cases with de novo t(13q;14q) plus a maternally derived trisomy 13.

  7. Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for Thirteen Cancer Types.

    Science.gov (United States)

    Sampson, Joshua N; Wheeler, William A; Yeager, Meredith; Panagiotou, Orestis; Wang, Zhaoming; Berndt, Sonja I; Lan, Qing; Abnet, Christian C; Amundadottir, Laufey T; Figueroa, Jonine D; Landi, Maria Teresa; Mirabello, Lisa; Savage, Sharon A; Taylor, Philip R; De Vivo, Immaculata; McGlynn, Katherine A; Purdue, Mark P; Rajaraman, Preetha; Adami, Hans-Olov; Ahlbom, Anders; Albanes, Demetrius; Amary, Maria Fernanda; An, She-Juan; Andersson, Ulrika; Andriole, Gerald; Andrulis, Irene L; Angelucci, Emanuele; Ansell, Stephen M; Arici, Cecilia; Armstrong, Bruce K; Arslan, Alan A; Austin, Melissa A; Baris, Dalsu; Barkauskas, Donald A; Bassig, Bryan A; Becker, Nikolaus; Benavente, Yolanda; Benhamou, Simone; Berg, Christine; Van Den Berg, David; Bernstein, Leslie; Bertrand, Kimberly A; Birmann, Brenda M; Black, Amanda; Boeing, Heiner; Boffetta, Paolo; Boutron-Ruault, Marie-Christine; Bracci, Paige M; Brinton, Louise; Brooks-Wilson, Angela R; Bueno-de-Mesquita, H Bas; Burdett, Laurie; Buring, Julie; Butler, Mary Ann; Cai, Qiuyin; Cancel-Tassin, Geraldine; Canzian, Federico; Carrato, Alfredo; Carreon, Tania; Carta, Angela; Chan, John K C; Chang, Ellen T; Chang, Gee-Chen; Chang, I-Shou; Chang, Jiang; Chang-Claude, Jenny; Chen, Chien-Jen; Chen, Chih-Yi; Chen, Chu; Chen, Chung-Hsing; Chen, Constance; Chen, Hongyan; Chen, Kexin; Chen, Kuan-Yu; Chen, Kun-Chieh; Chen, Ying; Chen, Ying-Hsiang; Chen, Yi-Song; Chen, Yuh-Min; Chien, Li-Hsin; Chirlaque, María-Dolores; Choi, Jin Eun; Choi, Yi Young; Chow, Wong-Ho; Chung, Charles C; Clavel, Jacqueline; Clavel-Chapelon, Françoise; Cocco, Pierluigi; Colt, Joanne S; Comperat, Eva; Conde, Lucia; Connors, Joseph M; Conti, David; Cortessis, Victoria K; Cotterchio, Michelle; Cozen, Wendy; Crouch, Simon; Crous-Bou, Marta; Cussenot, Olivier; Davis, Faith G; Ding, Ti; Diver, W Ryan; Dorronsoro, Miren; Dossus, Laure; Duell, Eric J; Ennas, Maria Grazia; Erickson, Ralph L; Feychting, Maria; Flanagan, Adrienne M; Foretova, Lenka; Fraumeni, Joseph F; Freedman, Neal D; Beane Freeman, Laura E; Fuchs, Charles; Gago-Dominguez, Manuela; Gallinger, Steven; Gao, Yu-Tang; Gapstur, Susan M; Garcia-Closas, Montserrat; García-Closas, Reina; Gascoyne, Randy D; Gastier-Foster, Julie; Gaudet, Mia M; Gaziano, J Michael; Giffen, Carol; Giles, Graham G; Giovannucci, Edward; Glimelius, Bengt; Goggins, Michael; Gokgoz, Nalan; Goldstein, Alisa M; Gorlick, Richard; Gross, Myron; Grubb, Robert; Gu, Jian; Guan, Peng; Gunter, Marc; Guo, Huan; Habermann, Thomas M; Haiman, Christopher A; Halai, Dina; Hallmans, Goran; Hassan, Manal; Hattinger, Claudia; He, Qincheng; He, Xingzhou; Helzlsouer, Kathy; Henderson, Brian; Henriksson, Roger; Hjalgrim, Henrik; Hoffman-Bolton, Judith; Hohensee, Chancellor; Holford, Theodore R; Holly, Elizabeth A; Hong, Yun-Chul; Hoover, Robert N; Horn-Ross, Pamela L; Hosain, G M Monawar; Hosgood, H Dean; Hsiao, Chin-Fu; Hu, Nan; Hu, Wei; Hu, Zhibin; Huang, Ming-Shyan; Huerta, Jose-Maria; Hung, Jen-Yu; Hutchinson, Amy; Inskip, Peter D; Jackson, Rebecca D; Jacobs, Eric J; Jenab, Mazda; Jeon, Hyo-Sung; Ji, Bu-Tian; Jin, Guangfu; Jin, Li; Johansen, Christoffer; Johnson, Alison; Jung, Yoo Jin; Kaaks, Rudolph; Kamineni, Aruna; Kane, Eleanor; Kang, Chang Hyun; Karagas, Margaret R; Kelly, Rachel S; Khaw, Kay-Tee; Kim, Christopher; Kim, Hee Nam; Kim, Jin Hee; Kim, Jun Suk; Kim, Yeul Hong; Kim, Young Tae; Kim, Young-Chul; Kitahara, Cari M; Klein, Alison P; Klein, Robert J; Kogevinas, Manolis; Kohno, Takashi; Kolonel, Laurence N; Kooperberg, Charles; Kricker, Anne; Krogh, Vittorio; Kunitoh, Hideo; Kurtz, Robert C; Kweon, Sun-Seog; LaCroix, Andrea; Lawrence, Charles; Lecanda, Fernando; Lee, Victor Ho Fun; Li, Donghui; Li, Haixin; Li, Jihua; Li, Yao-Jen; Li, Yuqing; Liao, Linda M; Liebow, Mark; Lightfoot, Tracy; Lim, Wei-Yen; Lin, Chien-Chung; Lin, Dongxin; Lindstrom, Sara; Linet, Martha S; Link, Brian K; Liu, Chenwei; Liu, Jianjun; Liu, Li; Ljungberg, Börje; Lloreta, Josep; Di Lollo, Simonetta; Lu, Daru; Lund, Eiluv; Malats, Nuria; Mannisto, Satu; Le Marchand, Loic; Marina, Neyssa; Masala, Giovanna; Mastrangelo, Giuseppe; Matsuo, Keitaro; Maynadie, Marc; McKay, James; McKean-Cowdin, Roberta; Melbye, Mads; Melin, Beatrice S; Michaud, Dominique S; Mitsudomi, Tetsuya; Monnereau, Alain; Montalvan, Rebecca; Moore, Lee E; Mortensen, Lotte Maxild; Nieters, Alexandra; North, Kari E; Novak, Anne J; Oberg, Ann L; Offit, Kenneth; Oh, In-Jae; Olson, Sara H; Palli, Domenico; Pao, William; Park, In Kyu; Park, Jae Yong; Park, Kyong Hwa; Patiño-Garcia, Ana; Pavanello, Sofia; Peeters, Petra H M; Perng, Reury-Perng; Peters, Ulrike; Petersen, Gloria M; Picci, Piero; Pike, Malcolm C; Porru, Stefano; Prescott, Jennifer; Prokunina-Olsson, Ludmila; Qian, Biyun; Qiao, You-Lin; Rais, Marco; Riboli, Elio; Riby, Jacques; Risch, Harvey A; Rizzato, Cosmeri; Rodabough, Rebecca; Roman, Eve; Roupret, Morgan; Ruder, Avima M; Sanjose, Silvia de; Scelo, Ghislaine; Schned, Alan; Schumacher, Fredrick; Schwartz, Kendra; Schwenn, Molly; Scotlandi, Katia; Seow, Adeline; Serra, Consol; Serra, Massimo; Sesso, Howard D; Setiawan, Veronica Wendy; Severi, Gianluca; Severson, Richard K; Shanafelt, Tait D; Shen, Hongbing; Shen, Wei; Shin, Min-Ho; Shiraishi, Kouya; Shu, Xiao-Ou; Siddiq, Afshan; Sierrasesúmaga, Luis; Sihoe, Alan Dart Loon; Skibola, Christine F; Smith, Alex; Smith, Martyn T; Southey, Melissa C; Spinelli, John J; Staines, Anthony; Stampfer, Meir; Stern, Marianna C; Stevens, Victoria L; Stolzenberg-Solomon, Rachael S; Su, Jian; Su, Wu-Chou; Sund, Malin; Sung, Jae Sook; Sung, Sook Whan; Tan, Wen; Tang, Wei; Tardón, Adonina; Thomas, David; Thompson, Carrie A; Tinker, Lesley F; Tirabosco, Roberto; Tjønneland, Anne; Travis, Ruth C; Trichopoulos, Dimitrios; Tsai, Fang-Yu; Tsai, Ying-Huang; Tucker, Margaret; Turner, Jenny; Vajdic, Claire M; Vermeulen, Roel C H; Villano, Danylo J; Vineis, Paolo; Virtamo, Jarmo; Visvanathan, Kala; Wactawski-Wende, Jean; Wang, Chaoyu; Wang, Chih-Liang; Wang, Jiu-Cun; Wang, Junwen; Wei, Fusheng; Weiderpass, Elisabete; Weiner, George J; Weinstein, Stephanie; Wentzensen, Nicolas; White, Emily; Witzig, Thomas E; Wolpin, Brian M; Wong, Maria Pik; Wu, Chen; Wu, Guoping; Wu, Junjie; Wu, Tangchun; Wu, Wei; Wu, Xifeng; Wu, Yi-Long; Wunder, Jay S; Xiang, Yong-Bing; Xu, Jun; Xu, Ping; Yang, Pan-Chyr; Yang, Tsung-Ying; Ye, Yuanqing; Yin, Zhihua; Yokota, Jun; Yoon, Ho-Il; Yu, Chong-Jen; Yu, Herbert; Yu, Kai; Yuan, Jian-Min; Zelenetz, Andrew; Zeleniuch-Jacquotte, Anne; Zhang, Xu-Chao; Zhang, Yawei; Zhao, Xueying; Zhao, Zhenhong; Zheng, Hong; Zheng, Tongzhang; Zheng, Wei; Zhou, Baosen; Zhu, Meng; Zucca, Mariagrazia; Boca, Simina M; Cerhan, James R; Ferri, Giovanni M; Hartge, Patricia; Hsiung, Chao Agnes; Magnani, Corrado; Miligi, Lucia; Morton, Lindsay M; Smedby, Karin E; Teras, Lauren R; Vijai, Joseph; Wang, Sophia S; Brennan, Paul; Caporaso, Neil E; Hunter, David J; Kraft, Peter; Rothman, Nathaniel; Silverman, Debra T; Slager, Susan L; Chanock, Stephen J; Chatterjee, Nilanjan

    2015-12-01

    Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites. Between 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers. GWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, hl (2), on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (ρ = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (ρ = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (ρ = 0.51, SE =0.18), and bladder and lung (ρ = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures. Our results provide important insights into

  8. 78 FR 79471 - Discretionary Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Science.gov (United States)

    2013-12-30

    ... Heritable Disorders in Newborns and Children; Notice of Meeting In accordance with section 10(a)(2) of the... following meeting: Name: Discretionary Advisory Committee on Heritable Disorders in Newborns and Children....m. Eastern Standard Time (EST). Purpose: The Discretionary Advisory Committee on Heritable Disorders...

  9. 78 FR 51195 - Discretionary Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Science.gov (United States)

    2013-08-20

    ... Heritable Disorders in Newborns and Children; Notice of Meeting In accordance with section 10(a)(2) of the... following meeting: Name: Discretionary Advisory Committee on Heritable Disorders in Newborns and Children[email protected] . Purpose: The Discretionary Advisory Committee on Heritable Disorders in Newborns and...

  10. 75 FR 68802 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Science.gov (United States)

    2010-11-09

    ... Administration Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting... Advisory Committee on Heritable Disorders in Newborns and Children (Advisory Committee) was established to... in newborns and children having or at risk for heritable disorders. The Advisory Committee also...

  11. 76 FR 76740 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Science.gov (United States)

    2011-12-08

    ... Administration Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting... Committee on Heritable Disorders in Newborns and Children. Dates and Times: January 26, 2012, 8:30 a.m. to 5... Advisory Committee on Heritable Disorders in [[Page 76741

  12. Long-distance translocations to create a second millerbird population and reduce extinction risk

    Science.gov (United States)

    Holly Freifeld,; Sheldon Plentovich,; Chris Farmer,; Charles Kohley,; Peter Luscomb,; Work, Thierry M.; Daniel Tsukayama,; George Wallace,; Mark MacDonald,; Sheila Conant,

    2016-01-01

    Translocation is a conservation tool used with increasing frequency to create additional populations of threatened species. In addition to following established general guidelines for translocations, detailed planning to account for unique circumstances and intensive post-release monitoring to document outcomes and guide management are essential components of these projects. Recent translocation of the critically endangered Nihoa millerbird (Acrocephalus familiaris kingi) provides an example of this planning and monitoring. The Nihoa millerbird is a passerine bird endemic to Nihoa Island in the remote Northwestern Hawaiian Islands. The closely related, ecologically similar Laysan millerbird (Acrocephalus familiaris familiaris) went extinct on Laysan Island in the early 20th century when the island was denuded by introduced rabbits. To reduce extinction risk, we translocated 50 adult Nihoa millerbirds more than 1000 km by sea to Laysan, which has recovered substantially in the past century and has ample habitat and a rich prey-base for millerbirds. Following five years of intensive background research and planning, including development of husbandry techniques, fundraising, and regulatory compliance, translocations occurred in 2011 and 2012. Of 11 females in each cohort, 8 (2011 cohort) and 11 (2012 cohort) produced at least one brood of fledglings during their first year on Laysan. At the conclusion of monitoring in September 2014, 37 of the translocated birds were known to survive, and the population was estimated at 164 birds. The reintroduction of millerbirds to Laysan represents a milestone in the island's ongoing restoration.

  13. Engineering protein folding and translocation improves heterologous protein secretion in Saccharomyces cerevisiae.

    Science.gov (United States)

    Tang, Hongting; Bao, Xiaoming; Shen, Yu; Song, Meihui; Wang, Shenghuan; Wang, Chengqiang; Hou, Jin

    2015-09-01

    Saccharomyces cerevisiae is widely used as a producer of heterologous proteins of medical and industrial interest. Numerous efforts have been made to overcome bottlenecks in protein expression and secretion. However, the effect of engineering protein translocation to heterologous protein secretion has not been studied extensively in S. cerevisiae. In this work, we confirmed that heterologous protein expression in S. cerevisiae induced the unfolded protein response (UPR). To enhance protein folding capacity, the endoplasmic reticulum (ER) chaperone protein BiP and the disulfide isomerase Pdi1p were each over-expressed, and the secretion of three heterologous proteins, β-glucosidase, endoglucanase, and α-amylase, was improved. The impact of engineering key translocation components was also studied. The over-expression of co-translational translocation components Srp14p and Srp54p enhanced the secretion of three heterologous proteins (β-glucosidase, endoglucanase, and α-amylase), but over-expressing the cytosolic chaperone Ssa1p (involved in post-translational translocation) only enhanced the secretion of β-glucosidase. By engineering both co-translational translocation and protein folding, we obtained strains with β-glucosidase, endoglucanase, and α-amylase activities increased by 72%, 60%, and 103% compared to the controls. Our results show that protein translocation may be a limiting factor for heterologous protein production. © 2015 Wiley Periodicals, Inc.

  14. The Potential of Lr19 and Bdv2 Translocations to Improve Yield and Disease Resistance in the High Rainfall Wheat Zones of Australia

    Directory of Open Access Journals (Sweden)

    Garry Rosewarne

    2015-02-01

    Full Text Available Chromosomal translocations in wheat derived from alien species are a valuable source of genetic diversity that have provided increases in resistance to various diseases and improved tolerance to abiotic stresses in wheat. These alien genomic segments can also affect multiple traits, with a concomitant ability to alter yield potential in either a positive or negative fashion. The aim of this work was to characterize the effects on yield of two types of translocations, namely T4-derived translocations from Thinopyrum ponticum, carrying the leaf rust resistance gene Lr19, and the TC14 translocation from Th. intermedium, carrying the barley yellow dwarf virus resistance gene Bdv2, in Australian adapted genetic backgrounds and under Australian conditions. A large range of germplasm was developed by crossing donor sources of the translocations into 24 Australian adapted varieties producing 340 genotypes. Yield trials were conducted in 14 environments to identify effects on yield and yield components. The T4 translocations had a positive effect on yield in one high yielding environment, but negatively affected yield in low-yielding environments. The TC14 translocation was generally benign, however, it was associated with a negative impact on yield and reduced height in two genetic backgrounds. The translocation was also associated with a delayed maturity in several backgrounds. The T4 translocations results were consistent with previously published data, whilst this is the first time that such an investigation has been undertaken on the TC14 translocation. Our data suggests a limited role for each of these translocations in Australia. The T4 translocations may be useful in high yielding environments, such as under irrigation in NSW and in the more productive high rainfall regions of south-eastern Australia. Traits associated with the TC14 translocation, such as BYDV resistance and delayed maturity, would make this translocation useful in BYDV

  15. Stochastic resonance during a polymer translocation process.

    Science.gov (United States)

    Mondal, Debasish; Muthukumar, M

    2016-04-14

    We have studied the occurrence of stochastic resonance when a flexible polymer chain undergoes a single-file translocation through a nano-pore separating two spherical cavities, under a time-periodic external driving force. The translocation of the chain is controlled by a free energy barrier determined by chain length, pore length, pore-polymer interaction, and confinement inside the donor and receiver cavities. The external driving force is characterized by a frequency and amplitude. By combining the Fokker-Planck formalism for polymer translocation and a two-state model for stochastic resonance, we have derived analytical formulas for criteria for emergence of stochastic resonance during polymer translocation. We show that no stochastic resonance is possible if the free energy barrier for polymer translocation is purely entropic in nature. The polymer chain exhibits stochastic resonance only in the presence of an energy threshold in terms of polymer-pore interactions. Once stochastic resonance is feasible, the chain entropy controls the optimal synchronization conditions significantly.

  16. Heritable oxidative phosphorylation differences in a pollutant resistant Fundulus heteroclitus population

    Energy Technology Data Exchange (ETDEWEB)

    Du, Xiao, E-mail: xdu@rsmas.miami.edu [Marine Biology and Ecology, Rosenstiel School of Marine and Atmospheric Science, University of Miami, 4600 Rickenbacker Causeway, Miami, FL 33149 (United States); Crawford, Douglas L. [Marine Biology and Ecology, Rosenstiel School of Marine and Atmospheric Science, University of Miami, 4600 Rickenbacker Causeway, Miami, FL 33149 (United States); Nacci, Diane E. [Population Ecology Branch, Atlantic Ecology Division, Office of Research and Development, U.S. Environmental Protection Agency, 27 Tarzwell Dr., Narragansett, RI 02882 (United States); Oleksiak, Marjorie F., E-mail: moleksiak@rsmas.miami.edu [Marine Biology and Ecology, Rosenstiel School of Marine and Atmospheric Science, University of Miami, 4600 Rickenbacker Causeway, Miami, FL 33149 (United States)

    2016-08-15

    versus field-caught fish suggests that different physiological mechanisms produce the enhanced OxPhos differences. Finally, similar to field-caught Elizabeth River fish, acute benzo [a] pyrene exposure did not affect OxPhos function of the laboratory-reared F3 generation, supporting the heritability of the toxicity resistance. Overall, these results suggest that the Elizabeth River population has evolved genetic changes in physiological homeostasis that enhance routine metabolism, and we speculate that these genetic changes interact with environmental factors altering the physiological mechanisms (e.g., alter LEAK, Complex I, and electron transfer system capacity) used to achieve this enhanced metabolism.

  17. Rank Modulation for Translocation Error Correction

    CERN Document Server

    Farnoud, Farzad; Milenkovic, Olgica

    2012-01-01

    We consider rank modulation codes for flash memories that allow for handling arbitrary charge drop errors. Unlike classical rank modulation codes used for correcting errors that manifest themselves as swaps of two adjacently ranked elements, the proposed \\emph{translocation rank codes} account for more general forms of errors that arise in storage systems. Translocations represent a natural extension of the notion of adjacent transpositions and as such may be analyzed using related concepts in combinatorics and rank modulation coding. Our results include tight bounds on the capacity of translocation rank codes, construction techniques for asymptotically good codes, as well as simple decoding methods for one class of structured codes. As part of our exposition, we also highlight the close connections between the new code family and permutations with short common subsequences, deletion and insertion error-correcting codes for permutations and permutation arrays.

  18. Nuclear translocation and retention of growth hormone

    DEFF Research Database (Denmark)

    Mertani, Hichem C; Raccurt, Mireille; Abbate, Aude

    2003-01-01

    We have previously demonstrated that GH is subject to rapid receptor-dependent nuclear translocation. Here, we examine the importance of ligand activation of the GH-receptor (GHR)-associated Janus kinase (JAK) 2 and receptor dimerization for hormone internalization and nuclear translocation by use...... of cells stably transfected with cDNA for the GHR. Staurosporine and herbimycin A treatment of cells did not affect the ability of GH to internalize but resulted in increased nuclear accumulation of hormone. Similarly, receptor mutations, which prevent the association and activation of JAK2, did not affect...... the ability of the hormone to internalize or translocate to the nucleus but resulted in increased nuclear accumulation of GH. These results were observed both by nuclear isolation and confocal laser scanning microscopy. Staurosporine treatment of cells in which human GH (hGH) was targeted to the cytoplasm...

  19. Streptococcus pyogenes translocates across an epithelial barrier.

    Science.gov (United States)

    Sumitomo, Tomoko

    2017-01-01

    Streptococcus pyogenes is a β-hemolytic organism responsible for a wide variety of human diseases that commonly occur as self-limiting purulent diseases of the pharynx and skin. Although the occurrence of invasive infections by S. pyogenes is rare, mortality rates remain high even with progressive medical therapy. As a prerequisite for causing the severe invasive disease, S. pyogenes must invade underlying sterile tissues by translocating across the epithelial barrier. In this study, streptolysin S and SpeB were identified as the novel factors that facilitate bacterial translocation via degradation of intercellular junctions. Furthermore, we found that S. pyogenes exploits host plasminogen for acceleration of bacterial invasion into deeper tissues via tricellular tight junctions. Here, I would like to show our study on bacterial translocation across the epithelial barrier through paracellular route.

  20. Heritability, family, school and academic achievement in adolescence.

    Science.gov (United States)

    Pokropek, Artur; Sikora, Joanna

    2015-09-01

    We demonstrate how genetically informed designs can be applied to administrative exam data to study academic achievement. ACE mixture latent class models have been used with Year 6 and 9 exam data for seven cohorts of Polish students which include 24,285 pairs of twins. Depending on a learning domain and classroom environment history, from 58% to 88% of variance in exam results is attributable to heritability, up to 34% to shared environment and from 8% to 15% depends on unique events in students' lives. Moreover, between 54% and 66% of variance in students' learning gains made between Years 6 and 9 is explained by heritability. The unique environment accounts for between 34% and 46% of that variance. However, we find no classroom effects on student progress made between Years 6 and 9. We situate this finding against the view that classroom peer groups and teachers matter for adolescent learning. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. heterosis and heritability estimates of purine alkaloids and ...

    African Journals Online (AJOL)

    ACSS

    Besides, the heritability value in strict sense of this Cyanidin-3-galactoside was very high. ... croisement réciproque (F5 et F9) ont présenté une meilleure hétérosis par rapport au meilleur parent. L'utilisation de ces deux clones dans un .... banks of the Cameroon Cocoa Development. Corporation (SODECAO) at Mengang ...

  2. Heritability and genetics of lipid metabolism

    DEFF Research Database (Denmark)

    Fenger, Mogens

    2007-01-01

    In this article, the concept of heritability and genetic effect will be reviewed and our current knowledge of the genetics of lipid metabolism summarized. The concepts of polygenic conditions and epistasis are discussed at length, and an effort is made to put the biological processes in context...... in the search for genetic factors influencing the metabolic pathways. Particular physiological heterogeneity is addressed and procedures to handle this complex issue are suggested....

  3. Heritability of the Symbiodinium community in vertically- and horizontally-transmitting broadcast spawning corals.

    Science.gov (United States)

    Quigley, Kate M; Willis, Bette L; Bay, Line K

    2017-08-15

    The dinoflagellate-coral partnership influences the coral holobiont's tolerance to thermal stress and bleaching. However, the comparative roles of host genetic versus environmental factors in determining the composition of this symbiosis are largely unknown. Here we quantify the heritability of the initial Symbiodinium communities for two broadcast-spawning corals with different symbiont transmission modes: Acropora tenuis has environmental acquisition, whereas Montipora digitata has maternal transmission. Using high throughput sequencing of the ITS-2 region to characterize communities in parents, juveniles and eggs, we describe previously undocumented Symbiodinium diversity and dynamics in both corals. After one month of uptake in the field, Symbiodinium communities associated with A. tenuis juveniles were dominated by A3, C1, D1, A-type CCMP828, and D1a in proportional abundances conserved between experiments in two years. M. digitata eggs were predominantly characterized by C15, D1, and A3. In contrast to current paradigms, host genetic influences accounted for a surprising 29% of phenotypic variation in Symbiodinium communities in the horizontally-transmitting A. tenuis, but only 62% in the vertically-transmitting M. digitata. Our results reveal hitherto unknown flexibility in the acquisition of Symbiodinium communities and substantial heritability in both species, providing material for selection to produce partnerships that are locally adapted to changing environmental conditions.

  4. Leveraging population admixture to explain missing heritability of complex traits

    Science.gov (United States)

    Zaitlen, Noah; Pasaniuc, Bogdan; Sankararaman, Sriram; Bhatia, Gaurav; Zhang, Jianqi; Gusev, Alexander; Young, Taylor; Tandon, Arti; Pollack, Samuela; Vilhjálmsson, Bjarni J.; Assimes, Themistocles L.; Berndt, Sonja I.; Blot, William J.; Chanock, Stephen; Franceschini, Nora; Goodman, Phyllis G.; He, Jing; Hennis, Anselm JM; Hsing, Ann; Ingles, Sue A.; Isaacs, William; Kittles, Rick A.; Klein, Eric A.; Lange, Leslie A.; Nemesure, Barbara; Patterson, Nick; Reich, David; Rybicki, Benjamin A.; Stanford, Janet L.; Stevens, Victoria L; Strom, Sara S.; Whitsel, Eric A; Witte, John S.; Xu, Jianfeng; Haiman, Christopher; Wilson, James G.; Kooperberg, Charles; Stram, Daniel; Reiner, Alex P.; Tang, Hua; Price, Alkes L.

    2014-01-01

    Despite recent progress on estimating the heritability explained by genotyped SNPs (hg2), a large gap between hg2 and estimates of total narrow-sense heritability (h2) remains. Explanations for this gap include rare variants, or upward bias in family-based estimates of h2 due to shared environment or epistasis. We estimate h2 from unrelated individuals in admixed populations by first estimating the heritability explained by local ancestry (hγ2). We show that hγ2 = 2FSTCθ(1−θ)h2, where FSTC measures frequency differences between populations at causal loci and θ is the genome-wide ancestry proportion. Our approach is not susceptible to biases caused by epistasis or shared environment. We examined 21,497 African Americans from three cohorts, analyzing 13 phenotypes. For height and BMI, we obtained h2 estimates of 0.55 ± 0.09 and 0.23 ± 0.06, respectively, which are larger than estimates of hg2 in these and other data, but smaller than family-based estimates of h2. PMID:25383972

  5. Familial Aggregation and Heritability of Wuchereria bancrofti Infection.

    Science.gov (United States)

    Chesnais, Cédric B; Sabbagh, Audrey; Pion, Sébastien D; Missamou, François; Garcia, André; Boussinesq, Michel

    2016-08-15

    The familial recurrence risk of lymphatic filariasis (LF) is unknown. This case study aimed to evaluate the familial susceptibility to infection with Wuchereria bancrofti and to microfilaremia in a village of the Republic of Congo. The heritability and intrafamilial correlation coefficients were assessed for both W. bancrofti infection and microfilaremia by controlling for individual risk factors, environmental influence, and household effects. Pedigree charts were constructed for 829 individuals, including 143 individuals with a diagnosis of W. bancrofti circulating filarial antigens (CFAs) and 44 who also had microfilariae (MF). There was no intrafamilial correlation regarding CFA levels. However, the presence of MF (ρ = 0.45) and microfilarial density (ρ = 0.44) were significantly correlated among parent-offspring pairs. Heritability estimates for CFA positivity and intensity were 0.23 and 0.18, respectively. Heritability estimates were high for microfilarial positivity (h(2) = 0.74) and microfilarial density traits (h(2) = 0.81). Our study suggests that the acquisition of LF is mainly driven by environmental factors and habits and that genetic factors are moderately involved in the regulation of infection. By contrast, genetic factors play a major role in both the presence and intensity of microfilaremia. © The Author 2016. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail journals.permissions@oup.com.

  6. Cognitive profiles and heritability estimates in the Old Order Amish.

    Science.gov (United States)

    Kuehner, Ryan M; Kochunov, Peter; Nugent, Katie L; Jurius, Deanna E; Savransky, Anya; Gaudiot, Christopher; Bruce, Heather A; Gold, James; Shuldiner, Alan R; Mitchell, Braxton D; Hong, L Elliot

    2016-08-01

    This study aimed to establish the applicability of the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS) in the Old Order Amish (OOA) and to assess the genetic contribution toward the RBANS total score and its cognitive domains using a large family-based sample of OOA. RBANS data were collected in 103 OOA individuals from Lancaster County, Pennsylvania, including 85 individuals without psychiatric illness and 18 individuals with current psychiatric diagnoses. The RBANS total score and all five cognitive domains of in nonpsychiatric OOA were within half a SD of the normative data of the general population. The RBANS total score was highly heritable (h=0.51, P=0.019). OOA with psychiatric diagnoses had a numerically lower RBANS total score and domain scores compared with the nonpsychiatric participants. The RBANS appears to be a suitable cognitive battery for the OOA population as measurements obtained from the OOA are comparable with normative data in the US population. The heritability estimated from the OOA is in line with heritabilities of other cognitive batteries estimated in other populations. These results support the use of RBANS in cognitive assessment, clinical care, and behavioral genetic studies of neuropsychological functioning in this population.

  7. Analysis of heritability and shared heritability based on Genome-Wide Association Studies for 13 Cancer Types

    OpenAIRE

    Sampson, JN; Wheeler, WA; Yeager, M.; Panagiotou, O.; Wang, Z; Berndt, SI; Lan, Q; Abnet, CC; Amundadottir, LT; Figueroa, JD; Landi, Mt; Mirabello, L.; Savage, SA; TAYLOR, PR; De Vivo, I

    2015-01-01

    Background: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common SNPs for cancer at 13 anatomical sites. Methods: Between 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49,492 cancer cases and 34,131 controls. We apply novel mixed model methodology (GCTA) to this GWAS data...

  8. Combining ability, heritability and genotypic relations of different physiological traits in cacao hybrids.

    Science.gov (United States)

    Pereira, Allan Silva; de Almeida, Alex-Alan Furtado; Branco, Márcia Christina da Silva; Costa, Marcio Gilberto Cardoso; Ahnert, Dario

    2017-01-01

    Selecting parents and evaluating progenies is a very important step in breeding programs and involves approaches such as understanding the initial stages of growth and characterizing the variability among genotypes for different parameters, such as physiological, growth, biomass partitioning and nutrient translocation to the aerial part. In these cases, facilitating tools can be used to understand the involved gene dynamics, such as diallel crosses and genetic and phenotypic correlations. Our main hypothesis is that the contrasting phenotypes of these parental genotypes of cocoa used are due to genetic factors, and progenies derived from crosses of these parental genotypes are useful for breeding programs related to plant architecture, physiological parameters and translocation of mineral nutrients. We aimed to evaluate the combining abilities in progenies of cacao (Theobroma cacao L) originating from contrasting parents for canopy vigor. Emphasis was given to the evaluation of morphological and physiological parameters and the phenotypic and genotypic correlations to understand the dynamics of the action of the genes involved, as well as in expression profile from genes of gibberellins biosynthesis pathway in the parents. Fifteen F1 progenies were obtained from crosses of six clones (IMC 67, P4B, PUCALA, SCA 6, SCA 24 and SJ 02) that were evaluated in a randomized complete block design with four replicates of 12 plants per progeny, in a balanced half table diallel scheme. It is possible to identify and select plants and progenies of low, medium and high height, as there is expressive genetic variability for the evaluated parameters, some of these on higher additive effects, others on larger nonadditive effects and others under a balance of these effects. Most physiological parameters evaluated show that for selection of plants with the desired performance, no complex breeding methods would be necessary due to the high and medium heritability observed. Strong

  9. Combining ability, heritability and genotypic relations of different physiological traits in cacao hybrids.

    Directory of Open Access Journals (Sweden)

    Allan Silva Pereira

    Full Text Available Selecting parents and evaluating progenies is a very important step in breeding programs and involves approaches such as understanding the initial stages of growth and characterizing the variability among genotypes for different parameters, such as physiological, growth, biomass partitioning and nutrient translocation to the aerial part. In these cases, facilitating tools can be used to understand the involved gene dynamics, such as diallel crosses and genetic and phenotypic correlations. Our main hypothesis is that the contrasting phenotypes of these parental genotypes of cocoa used are due to genetic factors, and progenies derived from crosses of these parental genotypes are useful for breeding programs related to plant architecture, physiological parameters and translocation of mineral nutrients. We aimed to evaluate the combining abilities in progenies of cacao (Theobroma cacao L originating from contrasting parents for canopy vigor. Emphasis was given to the evaluation of morphological and physiological parameters and the phenotypic and genotypic correlations to understand the dynamics of the action of the genes involved, as well as in expression profile from genes of gibberellins biosynthesis pathway in the parents. Fifteen F1 progenies were obtained from crosses of six clones (IMC 67, P4B, PUCALA, SCA 6, SCA 24 and SJ 02 that were evaluated in a randomized complete block design with four replicates of 12 plants per progeny, in a balanced half table diallel scheme. It is possible to identify and select plants and progenies of low, medium and high height, as there is expressive genetic variability for the evaluated parameters, some of these on higher additive effects, others on larger nonadditive effects and others under a balance of these effects. Most physiological parameters evaluated show that for selection of plants with the desired performance, no complex breeding methods would be necessary due to the high and medium heritability

  10. Case Report: Extrauterine Translocated Contraceptive Device: A ...

    African Journals Online (AJOL)

    Three of the five translocated intraperitoneal devices were recovered by laparotomy and the forth by laparoscopy. The fifth patient, pregnant, defaulted with the device still retained. We are of the opinion that primary iatrogenic uterine perforation occurs occasionally. Other possible translocatory mechanisms include ...

  11. Familial cryptic translocation in Angelman syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Weyerts, L.K.; Wiley, J.E.; Loud, K.M. [ECU School of Medicine, Greenville, NC (United States)] [and others

    1994-09-01

    The majority of patients with Angelman syndrome have been shown to have a cytogenetic or molecular deletion on the maternally derived chromosome 15. We report on a case of Angelman syndrome in which this deletion occurs as an unbalanced cryptic translocation involving chromosomes 14 and 15. The proband was diagnosed clinically as having Angelman syndrome. Multiple cytogenetic studies were done without detecting any deletion. When DNA probes (Oncor) specific for the Prader Willi/Angelman locus became available, the patient was restudied and found to be deleted for {open_quotes}region A{close_quotes} (D15S11) but not for {open_quotes}region B{close_quotes} (GABRB3). No other abnormality was detected. The proband`s mother was then studied. The chromosome 15 marker probe and D15S11 were detected on different chromosomes. Using alpha-satellite probes, a cryptic 14;15 translocation was uncovered. This balanced translocation was also found to be carried by the sister of the proband. This case, along with a case presented at the 1993 ASHG meeting, illustrates the need for using acrocentric probes when studying Angelman syndrome patients. The proband was studied using additional probes specific for this region and found to be deleted for SNRPN but not for D15S10. The breakpoint of the translocation in this patient delineates the smallest deletion of the Angelman syndrome region reported to date and therefore may represent the specific gene involved.

  12. Effect of height of cut on translocation of C-14-labelled assimilates in ...

    African Journals Online (AJOL)

    A pot experiment was conducted in the glasshouse to determine the effect of three heights of cut on translocation of C-14-labelled assimilates in Eragrostis curvula cv. Ermelo. Autoradiographs revealed that to produce regrowth plants defoliated to a height of 7,5 cm did not draw on their reserves significantly and that both ...

  13. Theoretical and experimental determination of phloem translocation speeds in gymnosperm and angiosperm trees

    DEFF Research Database (Denmark)

    Liesche, Johannes; Jensen, K.; Minchin, P.

    2013-01-01

    In trees, carbohydrates produced in photosynthesizing leaves are transported to roots and other sink organs over distances of up to 100 m inside a specialized transport tissue, the phloem. Carbohydrate translocation in the phloem is a fundamental aspect of tree physiology with relevance for tree ...

  14. Laboratory evalution of a translocation double heterozygote for genetic control of Aedes aegypti.

    Science.gov (United States)

    Uppal, D K; Curtis, C F; Soni, V K

    1978-07-01

    Two pure translocation homozygote stocks, T1/T1 and T3/T3, were used to produce a double translocation heterozygote system designated T1/T3, employing T1/T1 as the male and T3/T3 as the female parent. The double heterozygote showed 73 % sterility when mated to wild females. Tests on mating competitiveness, recombination frequency in the differential segment, insemination rate and inheritance of sterility after release, for four generations in laboratory cages, have been carried out to evaluate the efficiency of this strain as an agent for a population control programme.

  15. Control of Bean Rust using Antibiotics Produced by Bacillus and ...

    African Journals Online (AJOL)

    Antibiotic culture filtrates produced by Bacillus (CA5) and Streptomyces spp. were tested for translocation and persistence when applied on snap beans inoculated with rust (Uromyces appendiculatus) in greenhouse pot experiments. The antibiotics were applied on the first trifoliate leaves and translocation was assessed as ...

  16. Control of Bean Rust using Antibiotics Produced by Bacillus and ...

    African Journals Online (AJOL)

    MICHAEL

    ABSTRACT: Antibiotic culture filtrates produced by Bacillus (CA5) and Streptomyces spp. were tested for translocation and persistence when applied on snap beans inoculated with rust (Uromyces appendiculatus) in greenhouse pot experiments. The antibiotics were applied on the first trifoliate leaves and translocation was ...

  17. Heritability of Biomarkers of Oxidized Lipoproteins: A Twin Pair Study

    Science.gov (United States)

    Rao, Fangwen; Schork, Andrew J.; Maihofer, Adam X.; Nievergelt, Caroline M.; Marcovina, Santica; Miller, Elizabeth R.; Witztum, Joseph L.; O'Connor, Daniel T.; Tsimikas, Sotirios

    2015-01-01

    Objective To determine if biomarkers of oxidized lipoproteins are genetically determined. Lipoprotein(a) [Lp(a)] is a heritable risk factor and carrier of oxidized phospholipids (OxPL). Approach and Results We measured OxPL-apoB, Lp(a), IgG and IgM autoantibodies to malondialdehyde-modified low density lipoprotein (MDA-LDL), copper oxidized LDL (CuOxLDL) and apoB-immune complexes (ApoB-IC) in 386 monozygotic and dizygotic twins to estimate trait heritability (h2) and determine specific genetic effects among traits. A genome wide linkage study followed by genetic association was performed. The h2 (scale:0-1) for Lp(a) was 0.91±0.01 and for OxPL-apoB 0.87±0.02, which were higher than physiologic, inflammatory, or lipid traits. h2 of IgM MDA-LDL, CuOxLDL and ApoB-IC were 0.69±0.04, 0.67±0.05, and 0.80±0.03, respectively, and for IgG MDA-LDL, CuOxLDL and apoB-IC 0.62±0.05, 0.52±0.06, and 0.53±0.06, respectively. There was an inverse correlation between the major apo(a) isoform and OxPL-apoB (R=-0.49, plipoproteins are highly heritable cardiovascular risk factors that suggest novel genetic origins of atherothrombosis. PMID:25953646

  18. Familial aggregation and heritability of Loa loa microfilaremia.

    Science.gov (United States)

    Eyebe, Serge; Sabbagh, Audrey; Pion, Sébastien D; Nana-Djeunga, Hugues C; Kamgno, Joseph; Boussinesq, Michel; Chesnais, Cédric B

    2017-10-10

    For a given prevalence of Loa loa microfilaremia, the proportion of people with high densities varies significantly between communities. We hypothesized that this variation is related to the existence of familial clusters of hypermicrofilaremic individuals that would be the consequence of a genetic predisposition to present high L. loa microfilarial densities. A familial study was performed in 10 villages in the Okola Health District of Cameroon. Intra-familial correlation coefficients and heritability estimates were assessed for both the presence of L. loa microfilaremia and individual microfilarial densities by controlling for age, sex, Mansonella perstans coinfection and household effects. Pedigrees were constructed for 1,126 individuals. A significant familial susceptibility to be microfilaremic for L. loa was found for first-degree relatives (ρ = 0.08, P < .05; heritability = 0.23). Regarding individual microfilarial densities, a significant familial aggregation was demonstrated (ρ = 0.36 for first- and 0.27 for second-degree relatives). For first-degree relatives, the highest coefficient was found between mothers and daughters (ρ = 0.57). Overall heritability estimate for L. loa microfilarial density was 0.24 (P = .003). A significant genetic component governs L. loa microfilarial density. This supports the hypothesis that a genetic predisposition to be hypermicrofilaremic exists, leading to the presence of familial clusters of individuals at risk for post-ivermectin severe adverse events. This finding should be taken into account while developing sampling strategies (including a household-level sampling) to identify villages where community-directed treatment with ivermectin cannot be applied.

  19. Heritability of objectively assessed daily physical activity and sedentary behavior.

    Science.gov (United States)

    den Hoed, Marcel; Brage, Søren; Zhao, Jing Hua; Westgate, Kate; Nessa, Ayrun; Ekelund, Ulf; Spector, Tim D; Wareham, Nicholas J; Loos, Ruth J F

    2013-11-01

    Twin and family studies that estimated the heritability of daily physical activity have been limited by poor measurement quality and a small sample size. We examined the heritability of daily physical activity and sedentary behavior assessed objectively by using combined heart rate and movement sensing in a large twin study. Physical activity traits were assessed in daily life for a mean (± SD) 6.7 ± 1.1 d in 1654 twins from 420 monozygotic and 352 dizygotic same-sex twin pairs aged 56.3 ± 10.4 y with body mass index (in kg/m(2)) of 26.1 ± 4.8. We estimated the average daily movement, physical activity energy expenditure, and time spent in moderate-to-vigorous intensity physical activity and sedentary behavior from heart rate and acceleration data. We used structural equation modeling to examine the contribution of additive genetic, shared environmental, and unique environmental factors to between-individual variation in traits. Additive genetic factors (ie, heritability) explained 47% of the variance in physical activity energy expenditure (95% CI: 23%, 53%) and time spent in moderate-to-vigorous intensity physical activity (95% CI: 29%, 54%), 35% of the variance in acceleration of the trunk (95% CI: 0%, 44%), and 31% of the variance in the time spent in sedentary behavior (95% CI: 9%, 51%). The remaining variance was predominantly explained by unique environmental factors and random error, whereas shared environmental factors played only a marginal role for all traits with a range of 0-15%. The between-individual variation in daily physical activity and sedentary behavior is mainly a result of environmental influences. Nevertheless, genetic factors explain up to one-half of the variance, suggesting that innate biological processes may be driving some of our daily physical activity.

  20. Aorta measurements are heritable and influenced by bicuspid aortic valve

    Directory of Open Access Journals (Sweden)

    Lisa J Martin

    2011-09-01

    Full Text Available Abstract: Word Count 266, 1609 charactersObjectives: To determine whether the contributions of genetics and bicuspid aortic valve (BAV independently influence aortic (Ao dimensions.Background: Ao dilation is a risk factor for aneurysm, dissection, and sudden cardiac death. Frequent association of BAV with Ao dilation implicates a common underlying defect possibly due to genetic factors. Methods: Families enriched for BAV underwent standardized transthoracic echocardiography. In addition to BAV status, echocardiographic measures of Ao (annulus to descending Ao, pulmonary artery and mitral valve annulus diameters were obtained. Using variance components analysis, heritability was estimated with and without BAV status. Additionally, bivariate genetic analyses between Ao dimensions and BAV were performed.Results: Our cohort was obtained from 209 families enriched for BAV. After adjusting for age, body surface area and sex, individuals with BAV had a statistically significant increase in all echocardiographic measurements (p < 0.006 except descending Ao and mitral valve annulus. Individuals with BAV were at greater odds of having Ao dilation (OR = 4.44, 95% CI 2.93 – 6.72 than family members without BAV. All echocardiographic measurements exhibited moderate to strong heritability (0.25 to 0.53, and these estimates were not influenced by inclusion of BAV as a covariate. Bivariate genetic analyses supported that the genetic correlation between BAV and echo measures were not significantly different from zero.Conclusions: We show for the first time that echocardiographic measurements of Ao, pulmonary artery and mitral valve annulus diameters are quantitative traits that exhibit significant heritability. In addition, our results suggest the presence of BAV independently influences the proximal Ao and pulmonary artery measures but not those in the descending Ao or mitral valve annulus.

  1. Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

    Directory of Open Access Journals (Sweden)

    Bani Bandana Ganguly

    2011-01-01

    Full Text Available Unbalanced chromosomal rearrangements are not common; however, they have a significant clinical expression. The parental balanced translocation produces unbalanced chromosome, which is transmitted to next generation through fertilization of gametes carrying the derivative chromosome. The carriers of balanced rearrangements mostly do not have recognizable phenotypic expression. We report a family comprising of healthy and non-consanguineous young parents and their preemie newborn severely affected with congenital anomalies and systemic disorders. Conventional Gbanding analysis of somatic chromosomes identified a balanced translocation, t(6;10(p23;q24, in mother and an unbalanced rearrangement, der(6t(6:10(p23;q24mat, in the child. The child has inherited a derivative chromosome 6 with partial deletion of 6(p23-pter and partial trisomy 10(q24-qter, which has resulted in fusion of genes of two different chromosomes. The prominent phenotypic features of del(6p, including high forehead, flat nasal bridge, agenesis of left ear, atrial septal defect (ASD, craniosynostosis, and growth retardation, are overlapping with specific Axenfeld-Reiger-, Larsen-, and Ritscher-Sinzel/3-C syndromes, however, lacking in ocular anomalies, skeletal laxity, or cerebellar malformation. Therefore, this paper rules out the isolated effect of del(6p23 or trisomy 10(q24 on distinct previously reported syndromes and proposes the combined effect of unbalanced chromosomal alteration.

  2. Macular translocation surgery: computer simulation of visual perception.

    Science.gov (United States)

    Wong, D; Liazos, S; Mehta, J; Farnell, D J J

    2008-06-01

    Macular translocation can be associated with visual improvement, but patients often experience symptoms of confusion or diplopia. There is a high incidence of suppression of the operated or the fellow eye. The aim of this study is to use computer software to examine the pre- and post-operative fundal images, in order to better understand how patients see after macular translocation surgery. We created a graphical user interface that allowed a user to identify and record common landmark points in pre- and post-operative fundal images. We used these points to carry out interpolations using two algorithms, namely bilinear and thin-plate spline transformations. The transformations were applied to the Mona Lisa in order to appreciate how patients might see. Given two sets of corresponding points, both algorithms were able to approximate the effect of the surgery. Bilinear transformation was able to account for changes to the retina as a whole, including rotation, stretches, compression and shear. The thin-plate spline algorithm additionally accounted for the considerable regional and uneven local effects. Applying the later algorithm to the Mona Lisa produced inconsistent and warped images. Our results confirmed that neurosensory redistribution was associated with most cases of MT360. We infer from these results that corresponding retinal elements between two eyes would no longer correspond after surgery. The distortion of images from the operated eye could not be completely corrected by squint surgery, and this may account for the high incidence of suppression of the fellow or the operated eye after surgery.

  3. Sustainable Development Mechanism of Food Culture’s Translocal Production Based on Authenticity

    Directory of Open Access Journals (Sweden)

    Guojun Zeng

    2014-10-01

    Full Text Available Food culture is a kind of non-material culture with authenticity. To achieve sustainable development of translocal heritage and food culture, we must protect its authenticity. By selecting the cases of the Dongbeiren Flavor Dumpling Restaurant and the Daozanjia Northeast Dumpling Restaurant and using the in-depth interview method, this study discusses how northeastern Cuisine in Guangzhou balances the inheritance and innovation of authenticity, how producers and customers negotiate, and how to realize sustainable development. The main conclusions are: first, there are two different paths of translocal food culture production, which are “authentic food culture production” and “differentiated food culture production”. Second, what translocal enterprises produce is not objective authenticity, but constructive authenticity, or even existential authenticity. Third, compared with differentiated food culture production, authentic food culture production is helpful for the sustainable development of local food culture production. It protects the locality while transmitting and developing the local culture. Fourth, translocal food culture production is a process in which the producers and consumers continue to interact to maintain a state of equilibrium, which informs the sustainable development mechanism with a high degree of authenticity.

  4. Heritability of eleven metabolic phenotypes in Danish and Chinese twins

    DEFF Research Database (Denmark)

    Li, Shuxia; Duan, Hongmei; Pang, Zengchang

    2013-01-01

    A twin-based comparative study on the genetic influences in metabolic endophenotypes in two populations of substantial ethnic, environmental, and cultural differences was performed. Design and Methods: Data on 11 metabolic phenotypes including anthropometric measures, blood glucose, and lipids...... similar heritability patterns in the two samples with body weight showing only a slight difference. Higher genetic influences were estimated for fasting blood glucose level in Chinese twins, whereas the Danish twins showed more genetic regulation over most lipids phenotypes. Systolic blood pressure...... was more genetically controlled in Danish than in Chinese twins. Conclusions: Metabolic endophenotypes show disparity in their genetic determinants in populations under distinct environmental conditions....

  5. HERITABILITY AND PATH ANALYSIS OF SOME ECONOMICAL CHARACTERISTICS IN LENTIL

    Directory of Open Access Journals (Sweden)

    B BIÇER

    2008-07-01

    Full Text Available Twenty-nine lentil (Lens culinaris Medik genotypes were grown from 1997/98 to 1998/2001 at Dicle University, Faculty of Agriculture in Diyarbakir The heritability for days to fl owering and maturity, plant height, height of lowest pod, number of pod per plant, 1000 seed weight and seed yield were estimated as 0.94, 0.78, 0.52, 0.72, 0.37, 0.87 and 0.53, respectively. The path analysis indicated that total biological yield and number of clusters and pods per plant had very high positive direct effect on seed yield.

  6. Lessons on the pathogenesis of aneurysm from heritable conditions

    Science.gov (United States)

    Lindsay, Mark E.; Dietz, Harry C.

    2013-01-01

    Aortic aneurysm is common, accounting for 1–2% of all deaths in industrialized countries. Early theories of the causes of human aneurysm mostly focused on inherited or acquired defects in components of the extracellular matrix in the aorta. Although several mutations in the genes encoding extracellular matrix proteins have been recognized, more recent discoveries have shown important perturbations in cytokine signalling cascades and intracellular components of the smooth muscle contractile apparatus. The modelling of single-gene heritable aneurysm disorders in mice has shown unexpected involvement of the transforming growth factor-β cytokine pathway in aortic aneurysm, highlighting the potential for new therapeutic strategies. PMID:21593863

  7. Heritability of Tpeak-Tend Interval and T-wave Amplitude: A Twin Study

    DEFF Research Database (Denmark)

    Haarmark, Christian; Kyvik, Kirsten O; Vedel-Larsen, Esben

    2011-01-01

    BACKGROUND: -Tpeak-Tend interval (TpTe) and T-wave amplitude (Tamp) carry diagnostic and prognostic information regarding cardiac morbidity and mortality. Heart rate and QT interval are known to be heritable traits. The heritability of T-wave morphology parameters such as TpTe and Tamp is unknown...... interval, QTpeak and QTend interval) were measured and averaged over three consecutive beats in lead V5. TpTe was calculated as the QTend and QTpeak interval difference. Heritability was assessed using structural equation models adjusting for age, gender and BMI. All models were reducible to a model...... are heritable ECG parameters....

  8. Are range-size distributions consistent with species-level heritability?

    DEFF Research Database (Denmark)

    Borregaard, Michael Krabbe; Gotelli, Nicholas; Rahbek, Carsten

    2012-01-01

    The concept of species-level heritability is widely contested. Because it is most likely to apply to emergent, species-level traits, one of the central discussions has focused on the potential heritability of geographic range size. However, a central argument against range-size heritability has...... been that it is not compatible with the observed shape of present-day species range-size distributions (SRDs), a claim that has never been tested. To assess this claim, we used forward simulation of range-size evolution in clades with varying degrees of range-size heritability, and compared the output...

  9. Interaction of Prions Causes Heritable Traits in Saccharomyces cerevisiae.

    Directory of Open Access Journals (Sweden)

    Anton A Nizhnikov

    2016-12-01

    Full Text Available The concept of "protein-based inheritance" defines prions as epigenetic determinants that cause several heritable traits in eukaryotic microorganisms, such as Saccharomyces cerevisiae and Podospora anserina. Previously, we discovered a non-chromosomal factor, [NSI+], which possesses the main features of yeast prions, including cytoplasmic infectivity, reversible curability, dominance, and non-Mendelian inheritance in meiosis. This factor causes omnipotent suppression of nonsense mutations in strains of S. cerevisiae bearing a deleted or modified Sup35 N-terminal domain. In this work, we identified protein determinants of [NSI+] using an original method of proteomic screening for prions. The suppression of nonsense mutations in [NSI+] strains is determined by the interaction between [SWI+] and [PIN+] prions. Using genetic and biochemical methods, we showed that [SWI+] is the key determinant of this nonsense suppression, whereas [PIN+] does not cause nonsense suppression by itself but strongly enhances the effect of [SWI+]. We demonstrated that interaction of [SWI+] and [PIN+] causes inactivation of SUP45 gene that leads to nonsense suppression. Our data show that prion interactions may cause heritable traits in Saccharomyces cerevisiae.

  10. Heritability of dollar spot resistance in creeping bentgrass.

    Science.gov (United States)

    Bonos, Stacy A

    2006-08-01

    ABSTRACT The dollar spot disease incited by Sclerotinia homoeocarpa is an important disease of creeping bentgrass (Agrostis stolonifera). Genetic resistance is an important control strategy and could reduce fungicide use. Despite recent research, the genetic mechanism of dollar spot resistance in turfgrasses is still not fully understood. The objectives of this study were to (i) determine narrow-sense heritability and predicted gain from selection for dollar spot resistance in creeping bentgrass and (ii) evaluate inheritance characteristics of dollar spot disease resistance. Inheritance characteristics such as the detection of major genes, heterosis, maternal effects, and combining ability were determined by evaluating the disease severity of progeny from crosses between resistant and susceptible bent-grass clones. Parental clones and progenies from crosses were established in a field trial in a randomized complete block design and inoculated with one isolate of S. homoeocarpa applied at a rate of 0.25 g m(-2) of prepared inoculum. Differences in progeny means between crosses were observed over both years. Progeny from resistant x resistant crosses had significantly less disease severity than resistant x susceptible and susceptible x susceptible crosses. High narrow-sense heritability estimates (0.79 [2002], 0.79 [2003]) and large mean squares for general combining ability support the idea that additive gene action plays a significant role in disease resistance and support previous research that dollar spot resistance is most likely quantitatively inherited.

  11. Dark matter: are mice the solution to missing heritability?

    Directory of Open Access Journals (Sweden)

    Clarissa Carlin Parker

    2011-06-01

    Full Text Available Genome-wide association studies (GWAS in humans have identified hundreds of single nucleotide polymorphisms associated with complex traits, yet for most traits studied, the sum total of all these identified variants fail to explain a significant portion of the heritable variation. Reasons for this missing heritability are thought to include the existence of rare causative variants not captured by current genotyping arrays, structural variants that go undetected by existing technology, insufficient power to identify multi-gene interactions, small sample sizes, and the influence of environmental and epigenetic effects. As genotyping technologies have evolved it has become inexpensive and relatively straightforward to perform GWAS in mice. Mice offer a powerful tool for elucidating the genetic architecture of behavioral and physiological traits, and are complementary to human studies. Unlike F2 crosses of inbred strains, advanced intercross lines, heterogeneous stocks, outbred, and wild-caught mice have more rapid breakdown of linkage disequilibrium which allow for increasingly high resolution mapping. Because some of these populations are created using a small number of founder chromosomes they are not expected to harbor rare alleles. We discuss the differences between these mouse populations and examine their potential to overcome some of the pitfalls that have plagued human GWAS studies.

  12. Financial costs of large carnivore translocations--accounting for conservation.

    Directory of Open Access Journals (Sweden)

    Florian J Weise

    Full Text Available Human-carnivore conflict continues to present a major conservation challenge around the world. Translocation of large carnivores is widely implemented but remains strongly debated, in part because of a lack of cost transparency. We report detailed translocation costs for three large carnivore species in Namibia and across different translocation scenarios. We consider the effect of various parameters and factors on costs and translocation success. Total translocation cost for 30 individuals in 22 events was $80,681 (US Dollars. Median translocation cost per individual was $2,393, and $2,669 per event. Median cost per cheetah was $2,760 (n = 23, and $2,108 per leopard (n = 6. One hyaena was translocated at a cost of $1,672. Tracking technology was the single biggest cost element (56%, followed by captive holding and feeding. Soft releases, prolonged captivity and orphaned individuals also increased case-specific costs. A substantial proportion (65.4% of the total translocation cost was successfully recovered from public interest groups. Less than half the translocations were confirmed successes (44.4%, 3 unknown with a strong species bias. Four leopards (66.7% were successfully translocated but only eight of the 20 cheetahs (40.0% with known outcome met these strict criteria. None of the five habituated cheetahs was translocated successfully, nor was the hyaena. We introduce the concept of Individual Conservation Cost (ICC and define it as the cost of one successfully translocated individual adjusted by costs of unsuccessful events of the same species. The median ICC for cheetah was $6,898 and $3,140 for leopard. Translocations are costly, but we demonstrate that they are not inherently more expensive than other strategies currently employed in non-lethal carnivore conflict management. We conclude that translocation should be one available option for conserving large carnivores, but needs to be critically evaluated on a case-by-case basis.

  13. Financial costs of large carnivore translocations--accounting for conservation.

    Science.gov (United States)

    Weise, Florian J; Stratford, Ken J; van Vuuren, Rudolf J

    2014-01-01

    Human-carnivore conflict continues to present a major conservation challenge around the world. Translocation of large carnivores is widely implemented but remains strongly debated, in part because of a lack of cost transparency. We report detailed translocation costs for three large carnivore species in Namibia and across different translocation scenarios. We consider the effect of various parameters and factors on costs and translocation success. Total translocation cost for 30 individuals in 22 events was $80,681 (US Dollars). Median translocation cost per individual was $2,393, and $2,669 per event. Median cost per cheetah was $2,760 (n = 23), and $2,108 per leopard (n = 6). One hyaena was translocated at a cost of $1,672. Tracking technology was the single biggest cost element (56%), followed by captive holding and feeding. Soft releases, prolonged captivity and orphaned individuals also increased case-specific costs. A substantial proportion (65.4%) of the total translocation cost was successfully recovered from public interest groups. Less than half the translocations were confirmed successes (44.4%, 3 unknown) with a strong species bias. Four leopards (66.7%) were successfully translocated but only eight of the 20 cheetahs (40.0%) with known outcome met these strict criteria. None of the five habituated cheetahs was translocated successfully, nor was the hyaena. We introduce the concept of Individual Conservation Cost (ICC) and define it as the cost of one successfully translocated individual adjusted by costs of unsuccessful events of the same species. The median ICC for cheetah was $6,898 and $3,140 for leopard. Translocations are costly, but we demonstrate that they are not inherently more expensive than other strategies currently employed in non-lethal carnivore conflict management. We conclude that translocation should be one available option for conserving large carnivores, but needs to be critically evaluated on a case-by-case basis.

  14. Inter-species grafting caused extensive and heritable alterations of DNA methylation in Solanaceae plants.

    Science.gov (United States)

    Wu, Rui; Wang, Xiaoran; Lin, Yan; Ma, Yiqiao; Liu, Gang; Yu, Xiaoming; Zhong, Silin; Liu, Bao

    2013-01-01

    Grafting has been extensively used to enhance the performance of horticultural crops. Since Charles Darwin coined the term "graft hybrid" meaning that asexual combination of different plant species may generate products that are genetically distinct, highly discrepant opinions exist supporting or against the concept. Recent studies have documented that grafting enables exchanges of both RNA and DNA molecules between the grafting partners, thus providing a molecular basis for grafting-induced genetic variation. DNA methylation is known as prone to alterations as a result of perturbation of internal and external conditions. Given characteristics of grafting, it is interesting to test whether the process may cause an alteration of this epigenetic marker in the grafted organismal products. We analyzed relative global DNA methylation levels and locus-specific methylation patterns by the MSAP marker and locus-specific bisulfite-sequencing in the seed plants (wild-type controls), self- and hetero-grafted scions/rootstocks, selfed progenies of scions and their seed-plant controls, involving three Solanaceae species. We quantified expression of putative genes involved in establishing and/or maintaining DNA methylation by q-(RT)-PCR. We found that (1) hetero-grafting caused extensive alteration of DNA methylation patterns in a locus-specific manner, especially in scions, although relative methylation levels remain largely unaltered; (2) the altered methylation patterns in the hetero-grafting-derived scions could be inherited to sexual progenies with some sites showing further alterations or revisions; (3) hetero-grafting caused dynamic changes in steady-state transcript abundance of genes encoding for a set of enzymes functionally relevant to DNA methylation. Our results demonstrate that inter-species grafting in plants could produce extensive and heritable alterations in DNA methylation. We suggest that these readily altered, yet heritable, epigenetic modifications due to

  15. Heterodimeric TALENs induce targeted heritable mutations in the crustacean Daphnia magna

    Directory of Open Access Journals (Sweden)

    Akiko Naitou

    2015-02-01

    Full Text Available Transcription activator-like effector nucleases (TALENs are artificial nucleases harboring a customizable DNA-binding domain and a FokI nuclease domain. The high specificity of the DNA-binding domain and the ease of design have enabled researchers to use TALENs for targeted mutagenesis in various organisms. Here, we report the development of TALEN-dependent targeted gene disruption in the crustacean Daphnia magna, the emerging model for ecological and toxicological genomics. First, a reporter transgene DsRed2 (EF1α-1::DsRed2 was targeted. Using the Golden Gate method with a GoldyTALEN scaffold, we constructed homodimeric and heterodimeric TALENs containing wild-type and ELD/KKR FokI domains. mRNAs that coded for either the customized homodimeric or heterodimeric TALENs were injected into one-cell-stage embryos. The high mortality of embryos injected with homodimeric TALEN mRNAs prevented us from detecting mutations. In contrast, embryos injected with heterodimeric TALEN mRNAs survived and 78%–87% of the adults lost DsRed2 fluorescence in a large portion of cells throughout the body. In addition, these adults produced non-fluorescent progenies, all of which carried mutations at the dsRed2 locus. We also tested heterodimeric TALENs targeted for the endogenous eyeless gene and found that biallelic mutations could be transmitted through germ line cells at a rate of up to 22%. Both somatic and heritable mutagenesis efficiencies of TALENs were higher than those of the CRISPR/Cas9 system that we recently developed. These results suggest that the TALEN system may efficiently induce heritable mutations into the target genes, which will further contribute to the progress of functional genomics in D. magna.

  16. WARBURG EFFECT AND TRANSLOCATION-INDUCED GENOMIC INSTABILITY: TWO YEAST MODELS FOR CANCER CELLS

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    Valentina eTosato

    2013-01-01

    Full Text Available Yeast has been established as an efficient model system to study biological principles underpinning human health. In this review we focus on yeast models covering two aspects of cancer formation and progression i the activity of pyruvate kinase (PK, which recapitulates metabolic features of cancer cells, including the Warburg effect, and ii Bridge-Induced chromosome Translocation (BIT mimicking genome instability in cancer. Saccharomyces cerevisiae is an excellent model to study cancer cell metabolism, as exponentially growing yeast cells exhibit many metabolic similarities with rapidly proliferating cancer cells. The metabolic reconfiguration includes an increase in glucose uptake and fermentation, at the expense of respiration and oxidative phosphorylation (the Warburg effect, and involves a broad reconfiguration of nucleotide and amino acid metabolism. Both in yeast and humans, the regulation of this process seems to have a central player, pyruvate kinase, which is up-regulated in cancer, and to occur mostly on a post-transcriptional and posttranslational basis. Furthermore, BIT allows to generate selectable translocation-derived recombinants (translocants, between any two desired chromosomal locations, in wild-type yeast strains transformed with a linear DNA cassette carrying a selectable marker flanked by two DNA sequences homologous to different chromosomes. Using the Bridge-Induced Translocation system, targeted non-reciprocal translocations in mitosis are easily inducible. An extensive collection of different yeast translocants exhibiting genome instability and aberrant phenotypes similar to cancer cells has been produced and subjected to analysis. In this review, we hence provide an overview upon two yeast cancer models, and extrapolate general principles for mimicking human disease mechanisms in yeast.

  17. Heritability of Biomarkers of Oxidized Lipoproteins: Twin Pair Study.

    Science.gov (United States)

    Rao, Fangwen; Schork, Andrew J; Maihofer, Adam X; Nievergelt, Caroline M; Marcovina, Santica M; Miller, Elizabeth R; Witztum, Joseph L; O'Connor, Daniel T; Tsimikas, Sotirios

    2015-07-01

    To determine whether biomarkers of oxidized lipoproteins are genetically determined. Lipoprotein(a) (Lp[a]) is a heritable risk factor and carrier of oxidized phospholipids (OxPL). We measured oxidized phospholipids on apolipoprotein B-containing lipoproteins (OxPL-apoB), Lp(a), IgG, and IgM autoantibodies to malondialdehyde-modified low-density lipoprotein, copper oxidized low-density lipoprotein, and apoB-immune complexes in 386 monozygotic and dizygotic twins to estimate trait heritability (h(2)) and determine specific genetic effects among traits. A genome-wide linkage study followed by genetic association was performed. The h(2) (scale: 0-1) for Lp(a) was 0.91±0.01 and for OxPL-apoB 0.87±0.02, which were higher than physiological, inflammatory, or lipid traits. h(2) of IgM malondialdehyde-modified low-density lipoprotein, copper oxidized low-density lipoprotein, and apoB-immune complexes were 0.69±0.04, 0.67±0.05, and 0.80±0.03, respectively, and for IgG malondialdehyde-modified low-density lipoprotein, copper oxidized low-density lipoprotein, and apoB-immune complexes 0.62±0.05, 0.52±0.06, and 0.53±0.06, respectively. There was an inverse correlation between the major apo(a) isoform and OxPL-apoB (R=-0.49; Plipoprotein and copper oxidized low-density lipoprotein, and apoB-immune complexes. Sib-pair genetic linkage of the Lp(a) trait revealed that single nucleotide polymorphism rs10455872 was significantly associated with OxPL-apoB after adjusting for Lp(a). OxPL-apoB and other biomarkers of oxidized lipoproteins are highly heritable cardiovascular risk factors that suggest novel genetic origins of atherothrombosis. © 2015 American Heart Association, Inc.

  18. Measurement of background translocation frequencies in individuals with clones

    Energy Technology Data Exchange (ETDEWEB)

    Wade, Marcelle J. [California State Univ. (CalState), Hayward, CA (United States)

    1996-08-01

    In the leukemia case the unseparated B and T lymphocytes had a high translocation frequency even after 0.0014, respectively. After purging all clones from the data, the translocation frequencies for Bio 8 and Bio 23 were 0.00750.0014 and 0.0073 metaphases were scored for chromosomal aberrations,, specifically reciprocal translocations, using fluorescence in situ hybridization (FISH). Metaphase spreads were used from two healthy, unexposed individuals (not exposed to radiation, chemotherapy or radiotherapy) and one early B- precursor acute lymphocytic leukemia (ALL) patient (metaphase spreads from both separated T lymphocytes and unseparated B and T lymphocytes were scored). All three individuals had an abnormally high translocation frequency. The high translocation frequencies resulted from clonal expansion of specific translocated chromosomes. I show in this thesis that by purging (discounting or removing) clones from the data of unexposed individuals, one can obtain true background translocation frequencies. In two cases, Bio 8 and Bio 23, the measured translocation frequency for chromosomes 1, 2 and 4 was 0.0124 purging all of the clones from the data. This high translocation frequency may be due to a low frequency of some clones and may not be recognized. The separated T lymphocytes had a higher translocation frequency than expected.

  19. Translocation can drive the unfolding of a preprotein domain.

    Science.gov (United States)

    Arkowitz, R A; Joly, J C; Wickner, W

    1993-01-01

    Precursor proteins are believed to have secondary and tertiary structure prior to translocation across the Escherichia coli plasma membrane. We now find that preprotein unfolding during translocation can be driven by the translocation event itself. At certain stages, translocation and unfolding can occur without exogenous energy input. To examine this unfolding reaction, we have prepared proOmpA-Dhfr, a fusion protein of the well studied cytosolic enzyme dihydrofolate reductase (Dhfr) connected to the C-terminus of proOmpA, the precursor form of outer membrane protein A. At an intermediate stage of its in vitro translocation, the N-terminal proOmpA domain has crossed the membrane while the folded Dhfr portion, stabilized by its ligands NADPH and methotrexate, has not. When the ligands are removed from this intermediate, translocation occurs by a two-step process. First, 20-30 amino acid residues of the fusion protein translocate concomitant with unfolding of the Dhfr domain. This reaction requires neither ATP, delta mu H+ nor the SecA subunit of translocase. Strikingly, this translocation accelerates the net unfolding of the Dhfr domain. In a second step, SecA and ATP hydrolysis drive the rapid completion of translocation. Thus energy derived from translocation can drive the unfolding of a substantial protein domain.

  20. Heritability of Verbal and Performance Intelligence in a Pediatric Longitudinal Sample

    NARCIS (Netherlands)

    van Soelen, I.L.C.; Brouwer, R.M.; van Leeuwen, M.; Kahn, R.S.; Hulshoff Pol, H.E.; Boomsma, D.I.

    2011-01-01

    The longitudinal stability of IQ is well-documented as is its increasing heritability with age. In a longitudinal twin study, we addressed the question to what extent heritability and stability differ for full scale (FSIQ), verbal (VIQ), and performance IQ (PIQ) in childhood (age 9-11 years), and

  1. Heritability of telomere length in a study of long-lived families

    DEFF Research Database (Denmark)

    Honig, Lawrence S; Kang, Min Suk; Cheng, Rong

    2015-01-01

    in a given age group, it has been hypothesized to be a marker of biological aging. However, the principal basis for the variation of human LTL has not been established, although various studies have reported heritability. Here, we use a family-based study of longevity to study heritability of LTL in 3037...

  2. Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture

    NARCIS (Netherlands)

    Davis, L.K.; Yu, D.; Keenan, C.L.; Gamazon, E.R.; Konkashbaev, A.I.; Derks, E.M.; Neale, B.M.; Yang, J.; Lee, S.H.; Evans, P.; Barr, C.L.; Bellodi, L.; Benarroch, F.; Berrio, G.B.; Bienvenu, O.J.; Bloch, M.H.; Blom, R.M.; Bruun, R.D.; Budman, C.L.; Camarena, B.; Campbell, D.; Cappi, C.; Cardona Silgado, J.C.; Cath, D.C.; Cavallini, M.C.; Chavira, D.A.; Chouinard, S.; Conti, D.V.; Cook, E.H.; Coric, V.; Cullen, B.A.; Deforce, D.; Delorme, R.; Dion, Y.; Edlund, C.K.; Egberts, K.; Falkai, P.; Fernandez, T.V.; Gallagher, P.J.; Garrido, H.; Geller, D.; Girard, S.L.; Grabe, H.J.; Grados, M.A.; Greenberg, B.D.; Gross-Tsur, V.; Haddad, S.; Heiman, G.A.; Hemmings, S.M.; Hounie, A.G.; Illmann, C.; Jankovic, J.; Jenike, M.A.; Kennedy, J.L.; King, R.A.; Kremeyer, B.; Kurlan, R.; Lanzagorta, N.; Leboyer, M.; Leckman, J.F.; Lennertz, L.; Liu, C.; Lochner, C.; Lowe, T.L.; Macciardi, F.; McCracken, J.T.; McGrath, L.M.; Mesa Restrepo, S.C.; Moessner, R.; Morgan, J.; Muller, H.; Murphy, D.L.; Naarden, A.L.; Ochoa, W.C.; Ophoff, R.A.; Osiecki, L.; Pakstis, A.J.; Pato, M.T.; Piacentini, J.; Pittenger, C.; Pollak, Y.; Rauch, S.L.; Renner, T.J.; Reus, V.I.; Richter, M.A.; Riddle, M.A.; Robertson, M.M.; Romero, R.; Rosàrio, M.C.; Rosenberg, D.; Rouleau, G.A.; Ruhrmann, S.; Ruiz-Linares, A.; Sampaio, A.S.; Samuels, J.; Sandor, P.; Sheppard, B.; Singer, H.S.; Smit, J.H.; Stein, D.J.; Strengman, E.; Tischfield, J.A.; Valencia Duarte, A.V.; Vallada, H.; van Nieuwerburgh, F.; Veenstra-Vanderweele, J.; Walitza, S.; Wang, Y.; Wendland, J.R.; Westenberg, H.G.; Shugart, Y.Y.; Miguel, E.C.; McMahon, W.; Wagner, M.; Nicolini, H.; Posthuma, D.; Hanna, G.L.; Heutink, P.; Denys, D.; Arnold, P.D.; Oostra, B.A.; Nestadt, G.; Freimer, N.B.; Pauls, D.L.; Wray, N.R.; Stewart, S.E.; Mathews, C.A.; Knowles, J.A.; Cox, N.J.; Scharf, J.M.

    2013-01-01

    The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease

  3. The estimate of genetic correlation and heritability of various traits in ...

    African Journals Online (AJOL)

    This study was done on three strains of East African goats namely, Dodoma. Kigoma and Mtwara with the aim of estimating heritability for pre-weaning (4 months), post-weaning (8 months) and yearling (12 months) growth rates. Other heritability parameters measured were for weight at birth, 4, 8, and 12 months of age and ...

  4. Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture

    NARCIS (Netherlands)

    Davis, Lea K.; Yu, Dongmei; Keenan, Clare L.; Gamazon, Eric R.; Konkashbaev, Anuar I.; Derks, Eske M.; Neale, Benjamin M.; Yang, Jian; Lee, S. Hong; Evans, Patrick; Barr, Cathy L.; Bellodi, Laura; Benarroch, Fortu; Berrio, Gabriel Bedoya; Bienvenu, Oscar J.; Bloch, Michael H.; Blom, Rianne M.; Bruun, Ruth D.; Budman, Cathy L.; Camarena, Beatriz; Campbell, Desmond; Cappi, Carolina; Cardona Silgado, Julio C.; Cath, Danielle C.; Cavallini, Maria C.; Chavira, Denise A.; Chouinard, Sylvain; Conti, David V.; Cook, Edwin H.; Coric, Vladimir; Cullen, Bernadette A.; Deforce, Dieter; Delorme, Richard; Dion, Yves; Edlund, Christopher K.; Egberts, Karin; Falkai, Peter; Fernandez, Thomas V.; Gallagher, Patience J.; Garrido, Helena; Geller, Daniel; Girard, Simon L.; Grabe, Hans J.; Grados, Marco A.; Greenberg, Benjamin D.; Gross-Tsur, Varda; Haddad, Stephen; Heiman, Gary A.; Hemmings, Sian M. J.; Hounie, Ana G.; Illmann, Cornelia; Jankovic, Joseph; Jenike, Michael A.; Kennedy, James L.; King, Robert A.; Kremeyer, Barbara; Kurlan, Roger; Lanzagorta, Nuria; Leboyer, Marion; Leckman, James F.; Lennertz, Leonhard; Liu, Chunyu; Lochner, Christine; Lowe, Thomas L.; Macciardi, Fabio; McCracken, James T.; McGrath, Lauren M.; Mesa Restrepo, Sandra C.; Moessner, Rainald; Morgan, Jubel; Muller, Heike; Murphy, Dennis L.; Naarden, Allan L.; Ochoa, William Cornejo; Ophoff, Roel A.; Osiecki, Lisa; Pakstis, Andrew J.; Pato, Michele T.; Pato, Carlos N.; Piacentini, John; Pittenger, Christopher; Pollak, Yehuda; Rauch, Scott L.; Renner, Tobias J.; Reus, Victor I.; Richter, Margaret A.; Riddle, Mark A.; Robertson, Mary M.; Romero, Roxana; Rosàrio, Maria C.; Rosenberg, David; Rouleau, Guy A.; Ruhrmann, Stephan; Ruiz-Linares, Andres; Sampaio, Aline S.; Samuels, Jack; Sandor, Paul; Sheppard, Brooke; Singer, Harvey S.; Smit, Jan H.; Stein, Dan J.; Strengman, E.; Tischfield, Jay A.; Valencia Duarte, Ana V.; Vallada, Homero; van Nieuwerburgh, Filip; Veenstra-Vanderweele, Jeremy; Walitza, Susanne; Wang, Ying; Wendland, Jens R.; Westenberg, Herman G. M.; Shugart, Yin Yao; Miguel, Euripedes C.; McMahon, William; Wagner, Michael; Nicolini, Humberto; Posthuma, Danielle; Hanna, Gregory L.; Heutink, Peter; Denys, Damiaan; Arnold, Paul D.; Oostra, Ben A.; Nestadt, Gerald; Freimer, Nelson B.; Pauls, David L.; Wray, Naomi R.; Stewart, S. Evelyn; Mathews, Carol A.; Knowles, James A.; Cox, Nancy J.; Scharf, Jeremiah M.

    2013-01-01

    The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease

  5. 77 FR 22791 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Science.gov (United States)

    2012-04-17

    ... Disorders in Newborns and Children; Notice of Meeting In accordance with section 10(a)(2) of the Federal... following meeting: Name: Secretary's Advisory Committee on Heritable Disorders in Newborns and Children... mortality in newborns and children having (or at risk for) heritable disorders. The Advisory Committee's...

  6. 75 FR 17929 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Science.gov (United States)

    2010-04-08

    ... Disorders in Newborns and Children; Notice of Meeting In accordance with section 10(a)(2) of the Federal... Advisory Committee on Heritable Disorders in Newborns and Children. Dates and Times: May 13, 2010, 8:30 a.m... . Purpose: The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (Advisory...

  7. 77 FR 35698 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children

    Science.gov (United States)

    2012-06-14

    ... Disorders in Newborns and Children AGENCY: Health Resources and Services Administration (HRSA), Department...'s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) members to serve as... specialty services for newborns and children at risk for heritable disorders. Organizations will also be...

  8. 76 FR 17140 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Science.gov (United States)

    2011-03-28

    ... Disorders in Newborns and Children; Notice of Meeting In accordance with section 10(a)(2) of the Federal... Advisory Committee on Heritable Disorders in Newborns and Children. Dates and Times: May 5, 2011, 9:30 a.m....org . Purpose: The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children...

  9. 75 FR 46947 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Science.gov (United States)

    2010-08-04

    ... Disorders in Newborns and Children; Notice of Meeting In accordance with section 10(a)(2) of the Federal...: Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. Dates and Times: September....org . Purpose: The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children...

  10. 78 FR 16514 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Science.gov (United States)

    2013-03-15

    ... Disorders in Newborns and Children; Notice of Meeting In accordance with section 10(a)(2) of the Federal... following meeting: Name: Secretary's Advisory Committee on Heritable Disorders in Newborns and Children.../heritabledisorders . Purpose: The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children...

  11. The biological roots of complex thinking: are heritable attitudes more complex?

    Science.gov (United States)

    Conway, Lucian Gideon; Dodds, Daniel P; Towgood, Kirsten Hands; McClure, Stacey; Olson, James M

    2011-02-01

    Are highly heritable attitudes more or less complex than less heritable attitudes? Over 2,000 participant responses on topics varying in heritability were coded for overall integrative complexity and its 2 subcomponents (dialectical complexity and elaborative complexity). Across different heritability sets drawn from 2 separate prior twin research programs, the present results yielded a consistent pattern: Heritability was always significantly positively correlated with integrative complexity. Further analyses of the subcomponents suggested that the manner in which complexity was expressed differed by topic type: For societal topics, heritable attitudes were more likely to be expressed in dialectically complex terms, whereas for personally involving topics, heritable attitudes were more likely to be expressed in elaboratively complex terms. Most of these relationships remained significant even when controlling for measurements of attitude strength. The authors discuss the genetic roots of complex versus simple attitudes, implications for understanding attitude development more broadly, and the contribution of these results to previous work on both heritability and complexity. © 2011 The Authors. Journal of Personality © 2011, Wiley Periodicals, Inc.

  12. Heritability of Facial Characteristics between Parents and Offsprings: A Photographic Study

    Directory of Open Access Journals (Sweden)

    Seema Kapil Lahoti

    2013-01-01

    Conclusion: The evidence of significant genetic contribution was there for linear and proportional parameters. Sons showed stronger heritability to their mothers than to their fathers while daughter showed heritability from both the parents. Thus, the soft tissue form of offspring can be predicted from parental data and the information from the siblings can also be used.

  13. Microdeletion syndromes, balanced translocations, and gene mapping.

    Science.gov (United States)

    Schinzel, A

    1988-01-01

    High resolution prometaphase chromosome banding has allowed the detection of discrete chromosome aberrations which escaped earlier metaphase examinations. Consistent tiny deletions have been detected in some well established malformation syndromes: an interstitial deletion in 15q11/12 in the majority of patients with the Prader-Willi syndrome and in a minority of patients with the Angelman (happy puppet) syndrome; a terminal deletion of 17p13.3 in most patients examined with the Miller-Dieker syndrome; an interstitial deletion of 8q23.3/24.1 in a large majority of patients with the Giedion-Langer syndrome; an interstitial deletion of 11p13 in virtually all patients with the WAGR (Wilms' tumour-aniridia-gonadoblastoma-retardation) syndrome; and an interstitial deletion in 22q11 in about one third of patients with the DiGeorge sequence. In addition, a combination of chromosome prometaphase banding and DNA marker studies has allowed the localisation of the genes for retinoblastoma and for Wilms' tumour and the clarification of both the autosomal recessive nature of the mutation and the possible somatic mutations by which the normal allele can be lost in retina and kidney cells. After a number of X linked genes had been mapped, discrete deletions in the X chromosome were detected by prometaphase banding with specific attention paid to the sites of the gene(s) in males who had from one to up to four different X linked disorders plus mental retardation. Furthermore, the detection of balanced translocations in probands with disorders caused by autosomal dominant or X linked genes has allowed a better insight into the localisation of these genes. In some females with X linked disorders, balanced X; autosomal translocations have allowed the localisation of X linked genes at the breakpoint on the X chromosome. Balanced autosome; autosome translocations segregating with autosomal dominant conditions have provided some clues to the gene location of these conditions. In two

  14. Heritability of selective attention and working memory in preschoolers.

    Science.gov (United States)

    Stins, J F; de Sonneville, Leo M J; Groot, Alexia S; Polderman, Tinca C; van Baal, Caroline G C M; Boomsma, Dorret I

    2005-07-01

    In this study aspects of selective attention and working memory were tested in a large sample of nearly 6-year old monozygotic and dizygotic twin pairs, using a computerized test battery (Amsterdam Neuropsychological tasks). In the selective attention task the presence of a foil signal (target signal at an irrelevant location) resulted in more false alarms than a non-target signal. In the working memory task an increase in memory load lead to an increase in response times and errors. We analyzed variations in absolute performance parameters (overall speed and accuracy) and relative performance parameters (increase in errors and/or reaction time). The results showed clear familial resemblances on performance. It proved difficult to ascribe these effects to shared genes or to shared environment. An exception was memory search rate, which was clearly heritable.

  15. Pectus excavatum and heritable disorders of the connective tissue

    Directory of Open Access Journals (Sweden)

    Francesca Tocchioni

    2013-09-01

    Full Text Available Pectus excavatum, the most frequent congenital chest wall deformity, may be rarely observed as a sole deformity or as a sign of an underlying connective tissue disorder. To date, only few studies have described correlations between this deformity and heritable connective tissue disorders such as Marfan, Ehlers-Danlos, Poland, MASS (Mitral valve prolapse, not progressive Aortic enlargement, Skeletal and Skin alterations phenotype among others. When concurring with connective tissue disorder, cardiopulmonary and vascular involvement may be associated to the thoracic defect. Ruling out the concomitance of pectus excavatum and connective tissue disorders, therefore, may have a direct implication both on surgical outcome and long term prognosis. In this review we focused on biological bases of connective tissue disorders which may be relevant to the pathogenesis of pectus excavatum, portraying surgical and clinical implication of their concurrence.

  16. Pectus excavatum and heritable disorders of the connective tissue.

    Science.gov (United States)

    Tocchioni, Francesca; Ghionzoli, Marco; Messineo, Antonio; Romagnoli, Paolo

    2013-09-24

    Pectus excavatum, the most frequent congenital chest wall deformity, may be rarely observed as a sole deformity or as a sign of an underlying connective tissue disorder. To date, only few studies have described correlations between this deformity and heritable connective tissue disorders such as Marfan, Ehlers-Danlos, Poland, MASS (Mitral valve prolapse, not progressive Aortic enlargement, Skeletal and Skin alterations) phenotype among others. When concurring with connective tissue disorder, cardiopulmonary and vascular involvement may be associated to the thoracic defect. Ruling out the concomitance of pectus excavatum and connective tissue disorders, therefore, may have a direct implication both on surgical outcome and long term prognosis. In this review we focused on biological bases of connective tissue disorders which may be relevant to the pathogenesis of pectus excavatum, portraying surgical and clinical implication of their concurrence.

  17. Small RNAs and heritable epigenetic variation in plants.

    Science.gov (United States)

    Bond, Donna M; Baulcombe, David C

    2014-02-01

    Recent studies suggest that inheritance of phenotypes in plants is more likely to involve epigenetics than in mammals. There are two reasons for this difference. First, there is a RNA-based system in plants involving small (s)RNAs that influences de novo establishment and maintenance of DNA methylation at many sites in plant genomes. These regions of methylated DNA are epigenetic marks with the potential to affect gene expression that are transmitted between dividing cells of the same generation. Second, unlike mammals, DNA methyltransferases in plants are active during gametogenesis and embryogenesis so that patterns of DNA methylation can persist from parent to progeny and do not need to be reset. We discuss how the effects of stress and genome interactions in hybrid plants are two systems that illustrate how RNA-based mechanisms can influence heritable phenotypes in plants. Copyright © 2013 Elsevier Ltd. All rights reserved.

  18. Heritability of syringomyelia in Cavalier King Charles spaniels.

    Science.gov (United States)

    Lewis, Tom; Rusbridge, Clare; Knowler, Penny; Blott, Sarah; Woolliams, John A

    2010-03-01

    Mixed model analysis of 384 Cavalier King Charles spaniels (CKCS), with a magnetic resonance imaging diagnosis for the presence or absence of a syrinx, in conjunction with the Kennel Club pedigree records of all dogs registered from the mid 1980s to September 2007, revealed a moderately high estimate of heritability of syringomyelia (h(2)=0.37+/-0.15 standard error) when analysed as a binary trait. Inspection of cases where the disease segregated within families pointed to genes at more than one locus influencing syringomyelia. The availability of estimated breeding values for Kennel Club registered CKCS is a significant step in being able to select against syringomyelia, particularly given the difficulty of ascertaining the disease phenotype. 2009 Elsevier Ltd. All rights reserved.

  19. Estimating heritability for cause specific mortality based on twin studies

    DEFF Research Database (Denmark)

    Scheike, Thomas; Holst, Klaus K.; Hjelmborg, Jacob B.

    2014-01-01

    There has been considerable interest in studying the magnitude and type of inheritance of specific diseases. This is typically derived from family or twin studies, where the basic idea is to compare the correlation for different pairs that share different amount of genes. We here consider data from...... the Danish twin registry and discuss how to define heritability for cancer occurrence. The key point is that this should be done taking censoring as well as competing risks due to e.g.  death into account. We describe the dependence between twins on the probability scale and show that various models can...... be used to achieve sensible estimates of the dependence within monozygotic and dizygotic twin pairs that may vary over time. These dependence measures can subsequently be decomposed into a genetic and environmental component using random effects models. We here present several novel models that in essence...

  20. Human-directed social behaviour in dogs shows significant heritability.

    Science.gov (United States)

    Persson, M E; Roth, L S V; Johnsson, M; Wright, D; Jensen, P

    2015-04-01

    Through domestication and co-evolution with humans, dogs have developed abilities to attract human attention, e.g. in a manner of seeking assistance when faced with a problem solving task. The aims of this study were to investigate within breed variation in human-directed contact seeking in dogs and to estimate its genetic basis. To do this, 498 research beagles, bred and kept under standardized conditions, were tested in an unsolvable problem task. Contact seeking behaviours recorded included both eye contact and physical interactions. Behavioural data was summarized through a principal component analysis, resulting in four components: test interactions, social interactions, eye contact and physical contact. Females scored significantly higher on social interactions and physical contact and age had an effect on eye contact scores. Narrow sense heritabilities (h(2) ) of the two largest components were estimated at 0.32 and 0.23 but were not significant for the last two components. These results show that within the studied dog population, behavioural variation in human-directed social behaviours was sex dependent and that the utilization of eye contact seeking increased with age and experience. Hence, heritability estimates indicate a significant genetic contribution to the variation found in human-directed social interactions, suggesting that social skills in dogs have a genetic basis, but can also be shaped and enhanced through individual experiences. This research gives the opportunity to further investigate the genetics behind dogs' social skills, which could also play a significant part into research on human social disorders such as autism. © 2015 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.

  1. Prevalence and heritability of distichiasis in the English Cocker spaniel.

    Science.gov (United States)

    Petersen, Tanja; Proschowsky, Helle Friis; Hardon, Tommy; Rasch, Søren Nyhuus; Fredholm, Merete

    2015-01-01

    Canine distichiasis is a well-known cause of ocular irritation and excessive lacrimation (secretion of tears) in the dog. The term distichiasis originates from the Greek words di and stichos meaning two and rows, respectively, and as the name implies, the condition is characterized by an additional row of cilia, which erupts on the eyelid margin. Many purebred dogs are known to be predisposed to the condition, with many affected individuals within the populations. Even though the problem is widespread, the exact mode of inheritance and the heredity has not been studied extensively. However, some degree of genetic influence has been assumed, due to the high incidences within specific breeds. In the present study we have examined a cohort of English Cocker spaniels in Denmark to determine the prevalence and heritability of the disease. Data from English Cocker spaniels with an ECVO eye examination registered between 2004-2013 were included in the study. The number of dogs examined during this period was 799, and the prevalence of distichiasis within this cohort was estimated at 49.31 % with a gender predisposition that females are more likely to get distichiasis than males. The correlation between the distichiasis status of the parents and their offspring revealed a significant association between the breeding combination of the parents and the occurrence of distichiasis in the offspring (p spaniels from Denmark, examined in 2004-2013 was shown to be extremely high. The relative risk of developing the disease was 1.3 and 1.8 for offspring of one or two affected parents respectively. This together with the moderate to high heritability of the condition indicates that selective breeding could be used to reduce the incidence of distichiasis.

  2. Heritability and genome-wide linkage scan of subjective happiness.

    Science.gov (United States)

    Bartels, Meike; Saviouk, Viatcheslav; de Moor, Marleen H M; Willemsen, Gonneke; van Beijsterveldt, Toos C E M; Hottenga, Jouke-Jan; de Geus, Eco J C; Boomsma, Dorret I

    2010-04-01

    Causes of individual differences in happiness, as assessed with the Subjective Happiness Scale, are investigated in a large of sample twins and siblings from the Netherlands Twin Register. Over 12,000 twins and siblings, average age 24.7 years (range 12 to 88), took part in the study. A genetic model with an age by sex design was fitted to the data with structural equation modeling in Mx. The heritability of happiness was estimated at 22% for males and 41% in females. No effect of age was observed. To identify the genomic regions contributing to this heritability, a genome-wide linkage study for happiness was conducted in sibling pairs. A subsample of 1157 offspring from 441 families was genotyped with an average of 371 micro-satellite markers per individual. Phenotype and genotype data were analyzed in MERLIN with multipoint variance component linkage analysis and age and sex as covariates. A linkage signal (logarithm of odds score 2.73, empirical p value 0.095) was obtained at the end of the long arm of chromosome 19 for marker D19S254 at 110 cM. A second suggestive linkage peak was found at the short arm of chromosome 1 (LOD of 2.37) at 153 cM, marker D1S534 (empirical p value of .209). These two regions of interest are not overlapping with the regions found for contrasting phenotypes (such as depression, which is negatively associated with happiness). Further linkage and future association studies are warranted.

  3. ATHENA: the analysis tool for heritable and environmental network associations.

    Science.gov (United States)

    Holzinger, Emily R; Dudek, Scott M; Frase, Alex T; Pendergrass, Sarah A; Ritchie, Marylyn D

    2014-03-01

    Advancements in high-throughput technology have allowed researchers to examine the genetic etiology of complex human traits in a robust fashion. Although genome-wide association studies have identified many novel variants associated with hundreds of traits, a large proportion of the estimated trait heritability remains unexplained. One hypothesis is that the commonly used statistical techniques and study designs are not robust to the complex etiology that may underlie these human traits. This etiology could include non-linear gene × gene or gene × environment interactions. Additionally, other levels of biological regulation may play a large role in trait variability. To address the need for computational tools that can explore enormous datasets to detect complex susceptibility models, we have developed a software package called the Analysis Tool for Heritable and Environmental Network Associations (ATHENA). ATHENA combines various variable filtering methods with machine learning techniques to analyze high-throughput categorical (i.e. single nucleotide polymorphisms) and quantitative (i.e. gene expression levels) predictor variables to generate multivariable models that predict either a categorical (i.e. disease status) or quantitative (i.e. cholesterol levels) outcomes. The goal of this article is to demonstrate the utility of ATHENA using simulated and biological datasets that consist of both single nucleotide polymorphisms and gene expression variables to identify complex prediction models. Importantly, this method is flexible and can be expanded to include other types of high-throughput data (i.e. RNA-seq data and biomarker measurements). ATHENA is freely available for download. The software, user manual and tutorial can be downloaded from http://ritchielab.psu.edu/ritchielab/software.

  4. High Heritability Is Compatible with the Broad Distribution of Set Point Viral Load in HIV Carriers

    Science.gov (United States)

    Bonhoeffer, Sebastian; Fraser, Christophe; Leventhal, Gabriel E.

    2015-01-01

    Set point viral load in HIV patients ranges over several orders of magnitude and is a key determinant of disease progression in HIV. A number of recent studies have reported high heritability of set point viral load implying that viral genetic factors contribute substantially to the overall variation in viral load. The high heritability is surprising given the diversity of host factors associated with controlling viral infection. Here we develop an analytical model that describes the temporal changes of the distribution of set point viral load as a function of heritability. This model shows that high heritability is the most parsimonious explanation for the observed variance of set point viral load. Our results thus not only reinforce the credibility of previous estimates of heritability but also shed new light onto mechanisms of viral pathogenesis. PMID:25658741

  5. High heritability is compatible with the broad distribution of set point viral load in HIV carriers.

    Directory of Open Access Journals (Sweden)

    Sebastian Bonhoeffer

    2015-02-01

    Full Text Available Set point viral load in HIV patients ranges over several orders of magnitude and is a key determinant of disease progression in HIV. A number of recent studies have reported high heritability of set point viral load implying that viral genetic factors contribute substantially to the overall variation in viral load. The high heritability is surprising given the diversity of host factors associated with controlling viral infection. Here we develop an analytical model that describes the temporal changes of the distribution of set point viral load as a function of heritability. This model shows that high heritability is the most parsimonious explanation for the observed variance of set point viral load. Our results thus not only reinforce the credibility of previous estimates of heritability but also shed new light onto mechanisms of viral pathogenesis.

  6. Using extended genealogy to estimate components of heritability for 23 quantitative and dichotomous traits.

    Directory of Open Access Journals (Sweden)

    Noah Zaitlen

    2013-05-01

    Full Text Available Important knowledge about the determinants of complex human phenotypes can be obtained from the estimation of heritability, the fraction of phenotypic variation in a population that is determined by genetic factors. Here, we make use of extensive phenotype data in Iceland, long-range phased genotypes, and a population-wide genealogical database to examine the heritability of 11 quantitative and 12 dichotomous phenotypes in a sample of 38,167 individuals. Most previous estimates of heritability are derived from family-based approaches such as twin studies, which may be biased upwards by epistatic interactions or shared environment. Our estimates of heritability, based on both closely and distantly related pairs of individuals, are significantly lower than those from previous studies. We examine phenotypic correlations across a range of relationships, from siblings to first cousins, and find that the excess phenotypic correlation in these related individuals is predominantly due to shared environment as opposed to dominance or epistasis. We also develop a new method to jointly estimate narrow-sense heritability and the heritability explained by genotyped SNPs. Unlike existing methods, this approach permits the use of information from both closely and distantly related pairs of individuals, thereby reducing the variance of estimates of heritability explained by genotyped SNPs while preventing upward bias. Our results show that common SNPs explain a larger proportion of the heritability than previously thought, with SNPs present on Illumina 300K genotyping arrays explaining more than half of the heritability for the 23 phenotypes examined in this study. Much of the remaining heritability is likely to be due to rare alleles that are not captured by standard genotyping arrays.

  7. Using extended genealogy to estimate components of heritability for 23 quantitative and dichotomous traits.

    Science.gov (United States)

    Zaitlen, Noah; Kraft, Peter; Patterson, Nick; Pasaniuc, Bogdan; Bhatia, Gaurav; Pollack, Samuela; Price, Alkes L

    2013-05-01

    Important knowledge about the determinants of complex human phenotypes can be obtained from the estimation of heritability, the fraction of phenotypic variation in a population that is determined by genetic factors. Here, we make use of extensive phenotype data in Iceland, long-range phased genotypes, and a population-wide genealogical database to examine the heritability of 11 quantitative and 12 dichotomous phenotypes in a sample of 38,167 individuals. Most previous estimates of heritability are derived from family-based approaches such as twin studies, which may be biased upwards by epistatic interactions or shared environment. Our estimates of heritability, based on both closely and distantly related pairs of individuals, are significantly lower than those from previous studies. We examine phenotypic correlations across a range of relationships, from siblings to first cousins, and find that the excess phenotypic correlation in these related individuals is predominantly due to shared environment as opposed to dominance or epistasis. We also develop a new method to jointly estimate narrow-sense heritability and the heritability explained by genotyped SNPs. Unlike existing methods, this approach permits the use of information from both closely and distantly related pairs of individuals, thereby reducing the variance of estimates of heritability explained by genotyped SNPs while preventing upward bias. Our results show that common SNPs explain a larger proportion of the heritability than previously thought, with SNPs present on Illumina 300K genotyping arrays explaining more than half of the heritability for the 23 phenotypes examined in this study. Much of the remaining heritability is likely to be due to rare alleles that are not captured by standard genotyping arrays.

  8. Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture

    Science.gov (United States)

    Davis, Lea K.; Yu, Dongmei; Keenan, Clare L.; Gamazon, Eric R.; Konkashbaev, Anuar I.; Derks, Eske M.; Neale, Benjamin M.; Yang, Jian; Lee, S. Hong; Evans, Patrick; Barr, Cathy L.; Bellodi, Laura; Benarroch, Fortu; Berrio, Gabriel Bedoya; Bienvenu, Oscar J.; Bloch, Michael H.; Blom, Rianne M.; Bruun, Ruth D.; Budman, Cathy L.; Camarena, Beatriz; Campbell, Desmond; Cappi, Carolina; Cardona Silgado, Julio C.; Cath, Danielle C.; Cavallini, Maria C.; Chavira, Denise A.; Chouinard, Sylvain; Conti, David V.; Cook, Edwin H.; Coric, Vladimir; Cullen, Bernadette A.; Deforce, Dieter; Delorme, Richard; Dion, Yves; Edlund, Christopher K.; Egberts, Karin; Falkai, Peter; Fernandez, Thomas V.; Gallagher, Patience J.; Garrido, Helena; Geller, Daniel; Girard, Simon L.; Grabe, Hans J.; Grados, Marco A.; Greenberg, Benjamin D.; Gross-Tsur, Varda; Haddad, Stephen; Heiman, Gary A.; Hemmings, Sian M. J.; Hounie, Ana G.; Illmann, Cornelia; Jankovic, Joseph; Jenike, Michael A.; Kennedy, James L.; King, Robert A.; Kremeyer, Barbara; Kurlan, Roger; Lanzagorta, Nuria; Leboyer, Marion; Leckman, James F.; Lennertz, Leonhard; Liu, Chunyu; Lochner, Christine; Lowe, Thomas L.; Macciardi, Fabio; McCracken, James T.; McGrath, Lauren M.; Mesa Restrepo, Sandra C.; Moessner, Rainald; Morgan, Jubel; Muller, Heike; Murphy, Dennis L.; Naarden, Allan L.; Ochoa, William Cornejo; Ophoff, Roel A.; Osiecki, Lisa; Pakstis, Andrew J.; Pato, Michele T.; Pato, Carlos N.; Piacentini, John; Pittenger, Christopher; Pollak, Yehuda; Rauch, Scott L.; Renner, Tobias J.; Reus, Victor I.; Richter, Margaret A.; Riddle, Mark A.; Robertson, Mary M.; Romero, Roxana; Rosàrio, Maria C.; Rosenberg, David; Rouleau, Guy A.; Ruhrmann, Stephan; Ruiz-Linares, Andres; Sampaio, Aline S.; Samuels, Jack; Sandor, Paul; Sheppard, Brooke; Singer, Harvey S.; Smit, Jan H.; Stein, Dan J.; Strengman, E.; Tischfield, Jay A.; Valencia Duarte, Ana V.; Vallada, Homero; Van Nieuwerburgh, Filip; Veenstra-VanderWeele, Jeremy; Walitza, Susanne; Wang, Ying; Wendland, Jens R.; Westenberg, Herman G. M.; Shugart, Yin Yao; Miguel, Euripedes C.; McMahon, William; Wagner, Michael; Nicolini, Humberto; Posthuma, Danielle; Hanna, Gregory L.; Heutink, Peter; Denys, Damiaan; Arnold, Paul D.; Oostra, Ben A.; Nestadt, Gerald; Freimer, Nelson B.; Pauls, David L.; Wray, Naomi R.

    2013-01-01

    The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained by all SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded a heritability point estimate of 0.58 (se = 0.09, p = 5.64e-12) for TS, and 0.37 (se = 0.07, p = 1.5e-07) for OCD. In addition, we conducted multiple genomic partitioning analyses to identify genomic elements that concentrate this heritability. We examined genomic architectures of TS and OCD by chromosome, MAF bin, and functional annotations. In addition, we assessed heritability for early onset and adult onset OCD. Among other notable results, we found that SNPs with a minor allele frequency of less than 5% accounted for 21% of the TS heritability and 0% of the OCD heritability. Additionally, we identified a significant contribution to TS and OCD heritability by variants significantly associated with gene expression in two regions of the brain (parietal cortex and cerebellum) for which we had available expression quantitative trait loci (eQTLs). Finally we analyzed the genetic correlation between TS and OCD, revealing a genetic correlation of 0.41 (se = 0.15, p = 0.002). These results are very close to previous heritability estimates for TS and OCD based on twin and family studies, suggesting that very little, if any, heritability is truly missing (i.e., unassayed) from TS and OCD GWAS studies of common variation. The results also indicate that there is some genetic overlap between these two phenotypically-related neuropsychiatric disorders, but suggest that the two disorders have distinct genetic architectures. PMID:24204291

  9. Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture.

    Directory of Open Access Journals (Sweden)

    Lea K Davis

    2013-10-01

    Full Text Available The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained by all SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD and Tourette Syndrome (TS, using GCTA. Our analysis yielded a heritability point estimate of 0.58 (se = 0.09, p = 5.64e-12 for TS, and 0.37 (se = 0.07, p = 1.5e-07 for OCD. In addition, we conducted multiple genomic partitioning analyses to identify genomic elements that concentrate this heritability. We examined genomic architectures of TS and OCD by chromosome, MAF bin, and functional annotations. In addition, we assessed heritability for early onset and adult onset OCD. Among other notable results, we found that SNPs with a minor allele frequency of less than 5% accounted for 21% of the TS heritability and 0% of the OCD heritability. Additionally, we identified a significant contribution to TS and OCD heritability by variants significantly associated with gene expression in two regions of the brain (parietal cortex and cerebellum for which we had available expression quantitative trait loci (eQTLs. Finally we analyzed the genetic correlation between TS and OCD, revealing a genetic correlation of 0.41 (se = 0.15, p = 0.002. These results are very close to previous heritability estimates for TS and OCD based on twin and family studies, suggesting that very little, if any, heritability is truly missing (i.e., unassayed from TS and OCD GWAS studies of common variation. The results also indicate that there is some genetic overlap between these two phenotypically-related neuropsychiatric disorders, but suggest that the two disorders have distinct genetic architectures.

  10. Mechanism for translocation of fluoroquinolones across lipid membranes

    DEFF Research Database (Denmark)

    Cramariuc, O.; Rog, T.; Javanainen, M.

    2012-01-01

    Classical atom-scale molecular dynamics simulations, constrained free energy calculations, and quantum mechanical (QM) calculations are employed to study the diffusive translocation of ciprofloxacin (CPFX) across lipid membranes. CPFX is considered here as a representative of the fluoroquinolone....... Subsequent QM analysis of the observed molecular stacking shows the important role of partial charge neutralization in the stacks, highlighting how the zwitterionic form of the drug is neutralized for translocation. The findings propose a translocation mechanism in which zwitterionic CPFX molecules approach...

  11. Metallic oxide nanoparticle translocation across the human bronchial epithelial barrier.

    Science.gov (United States)

    George, Isabelle; Naudin, Grégoire; Boland, Sonja; Mornet, Stéphane; Contremoulins, Vincent; Beugnon, Karine; Martinon, Laurent; Lambert, Olivier; Baeza-Squiban, Armelle

    2015-03-14

    Inhalation is the most frequent route of unintentional exposure to nanoparticles (NPs). Our aim was to quantify the translocation of different metallic NPs across human bronchial epithelial cells and to determine the factors influencing this translocation. Calu-3 cells forming a tight epithelial barrier when grown on a porous membrane in a two compartment chamber were exposed to fluorescently labelled NPs to quantify the NP translocation. NP translocation and uptake by cells were also studied by confocal and transmission electron microscopy. Translocation was characterized according to NP size (16, 50, or 100 nm), surface charge (negative or positive SiO2), composition (SiO2 or TiO2), presence of proteins or phospholipids and in an inflammatory context. Our results showed that NPs can translocate through the Calu-3 monolayer whatever their composition (SiO2 or TiO2), but this translocation was increased for the smallest and negatively charged NPs. Translocation was not associated with an alteration of the integrity of the epithelial monolayer, suggesting a transcytosis of the internalized NPs. By modifying the NP corona, the ability of NPs to cross the epithelial barrier differed depending on their intrinsic properties, making positively charged NPs more prone to translocate. NP translocation can be amplified by using agents known to open tight junctions and to allow paracellular passage. NP translocation was also modulated when mimicking an inflammatory context frequently found in the lungs, altering the epithelial integrity and inducing transient tight junction opening. This in vitro evaluation of NP translocation could be extended to other inhaled NPs to predict their biodistribution.

  12. Longing Itineraries: Building the Translocal Community

    Directory of Open Access Journals (Sweden)

    Gustavo López Angel

    2017-06-01

    Full Text Available Migration has reshaped social practices, the sense of belonging has been rethought, and the membership is renegotiated and contended; this is why strategies for their sustainability have been generated. The translocal community operates through multilocated relationships that reveal the ways in which migrants are adapting to the new demands of the community. We emphasize the emotional impulse of nostalgia as one of the vehicles of sustainability for the community. The community is redefined and understood in a set of socio-cultural relationships its members generate, and where the locality is not central, but the connection. A new dimension of the social community space is not just the community gathered in a specific place, but also that agreements, commitments, and acknowledgments are exhibited and settled in the cyberspace; this cyberspace gives cohesion and brings a dynamic element to preserve the community, despite the fact that it is even less concrete than the spatial notion of territory. Facebook, YouTube and a blog are the web platforms of the virtual space where "neighbors, compatriots and citizens" (categories of ascription from the migration get together, where there is a reproduction of social practices (even the most ancient and fundamental ones, to give a new dimension to a translocal, multilocated and ciberlocated community.

  13. Another reptile translocation to a national park

    Directory of Open Access Journals (Sweden)

    W.R. Branch

    1990-10-01

    Full Text Available On 4 May 1988 a sub-adult (50 mm snout-vent length, 42 mm tail Jones' girdled lizard Cordylus tropidosternum jonesi was collected in a pile of wood being off-loaded at the new restcamp in the Karoo National Park, Beaufort West. The wood had been transported by lorry from the Kruger National Park. The specimen is deposited in the herpetological collection of the Port Elizabeth Museum (PEM R 4584. Jones' girdled lizard is a small, arboreal cordylid that shelters under tree bark and in hollow logs. It is common and widely-distributed in the Kruger National Park (Pienaar, Haacke & Jacobsen 1983, The Reptiles of the Kruger National Park, 3rd edition. Pretoria: National Parks Board and adjacent lowveld, being replaced in northern Zimbabwe and East Africa by the nominate race. Hewitt & Power (1913, Transactions of the Royal Society of South Africa 3: 147-176, 1913 reported a similar translocation of the species to Kimberley in association with timber brought to the diamond mining camps. One of us noted recently the ease and danger of the unwitting spread of commensal reptile species into conservation areas (Branch 1978, Koedoe 30: 165, and this is confirmed by this additional example. We recommend that should similar shipments of wood be considered essential, then they be fumigated to prevent the translocation of other alien organisms that may potentially have more dangerous consequences.

  14. Chaperone-assisted translocation of flexible polymers in three dimensions

    Science.gov (United States)

    Suhonen, P. M.; Linna, R. P.

    2016-01-01

    Polymer translocation through a nanometer-scale pore assisted by chaperones binding to the polymer is a process encountered in vivo for proteins. Studying the relevant models by computer simulations is computationally demanding. Accordingly, previous studies are either for stiff polymers in three dimensions or flexible polymers in two dimensions. Here, we study chaperone-assisted translocation of flexible polymers in three dimensions using Langevin dynamics. We show that differences in binding mechanisms, more specifically, whether a chaperone can bind to a single site or multiple sites on the polymer, lead to substantial differences in translocation dynamics in three dimensions. We show that the single-binding mode leads to dynamics that is very much like that in the constant-force driven translocation and accordingly mainly determined by tension propagation on the cis side. We obtain β ≈1.26 for the exponent for the scaling of the translocation time with polymer length. This fairly low value can be explained by the additional friction due to binding particles. The multiple-site binding leads to translocation the dynamics of which is mainly determined by the trans side. For this process we obtain β ≈1.36 . This value can be explained by our derivation of β =4 /3 for constant-bias translocation, where translocated polymer segments form a globule on the trans side. Our results pave the way for understanding and utilizing chaperone-assisted translocation where variations in microscopic details lead to rich variations in the emerging dynamics.

  15. Chromosomal Translocations: Chicken or Egg? | Center for Cancer Research

    Science.gov (United States)

    Many tumor cells have abnormal chromosomes. Some of these abnormalities are caused by chromosomal translocations, which occur when two chromosomes break and incorrectly rejoin, resulting in an exchange of genetic material. Translocations can activate oncogenes, silence tumor suppressor genes, or result in the creation of completely new fusion gene products. While there is little doubt that chromosomal translocations can contribute to cancer, there is an active "chicken and the egg" discussion about the role translocations and other chromosomal abnormalities play—do they actually cause cancer or merely occur because of other changes within the cancer cell.  

  16. ZResponse to selection, heritability and genetic correlations between body weight and body size in Pacific white shrimp, Litopenaeus vannamei

    Science.gov (United States)

    Andriantahina, Farafidy; Liu, Xiaolin; Huang, Hao; Xiang, Jianhai

    2012-03-01

    To quantify the response to selection, heritability and genetic correlations between weight and size of Litopenaeus vannamei, the body weight (BW), total length (TL), body length (BL), first abdominal segment depth (FASD), third abdominal segment depth (TASD), first abdominal segment width (FASW), and partial carapace length (PCL) of 5-month-old parents and of offspnng were measured by calculating seven body measunngs of offspnng produced by a nested mating design. Seventeen half-sib families and 42 full-sib families of L. vannamei were produced using artificial fertilization from 2-4 dams by each sire, and measured at around five months post-metamorphosis. The results show that hentabilities among vanous traits were high: 0.515±0.030 for body weight and 0.394±0.030 for total length. After one generation of selection. the selection response was 10.70% for offspring growth. In the 5th month, the realized heritability for weight was 0.296 for the offspnng generation. Genetic correlations between body weight and body size were highly variable. The results indicate that external morphological parameters can be applied dunng breeder selection for enhancing the growth without sacrificing animals for determining the body size and breed ability; and selective breeding can be improved significantly, simultaneously with increased production.

  17. Translocation of cell-penetrating peptides into Candida fungal pathogens.

    Science.gov (United States)

    Gong, Zifan; Karlsson, Amy J

    2017-09-01

    Cell-penetrating peptides (CPPs) are small peptides capable of crossing cellular membranes while carrying molecular cargo. Although they have been widely studied for their ability to translocate nucleic acids, small molecules, and proteins into mammalian cells, studies of their interaction with fungal cells are limited. In this work, we evaluated the translocation of eleven fluorescently labeled peptides into the important human fungal pathogens Candida albicans and C. glabrata and explored the mechanisms of translocation. Seven of these peptides (cecropin B, penetratin, pVEC, MAP, SynB, (KFF)3 K, and MPG) exhibited substantial translocation (>80% of cells) into both species in a concentration-dependent manner, and an additional peptide (TP-10) exhibiting strong translocation into only C. glabrata. Vacuoles were involved in translocation and intracellular trafficking of the peptides in the fungal cells and, for some peptides, escape from the vacuoles and localization in the cytosol were correlated to toxicity toward the fungal cells. Endocytosis was involved in the translocation of cecropin B, MAP, SynB, MPG, (KFF)3 K, and TP-10, and cecropin B, penetratin, pVEC, and MAP caused membrane permeabilization during translocation. These results indicate the involvement of multiple translocation mechanisms for some CPPs. Although high levels of translocation were typically associated with toxicity of the peptides toward the fungal cells, SynB was translocated efficiently into Candida cells at concentrations that led to minimal toxicity. Our work highlights the potential of CPPs in delivering antifungal molecules and other bioactive cargo to Candida pathogens. © 2017 The Protein Society.

  18. Heritability of nestling begging intensity in the house sparrow (Passer domesticus).

    Science.gov (United States)

    Dor, Roi; Lotem, Arnon

    2009-03-01

    Evolutionary theory of parent-offspring conflict assumes that offspring food solicitation behavior, known as begging, and parental response to begging are subjected to selection and coevolution. This assumption implies that begging intensity should be heritable, at least to some degree. Although some studies have suggested that begging is heritable, the evidence for this is rare and mostly indirect. To assess the heritability of begging we used artificial selection, sibling analysis, and the monitoring of begging intensity in four generations of cross-fostered captive house sparrow nestlings. We also contrasted the heritability of begging with that of morphological traits, known to be heritable in this species. Our results show that adult wing length and body mass were heritable as expected. The heritability estimates of the visual and vocal components of nestling begging (standardized for food deprivation and body mass) were low to moderate, as expected for behavioral traits in general, and lower than previously reported for passerine birds. Our sibling analysis shows that common environment had much greater effect on begging than genetic origin, suggesting that begging evolution may be strongly influenced by gene-environment interaction, probably through the mechanisms that adjust begging response to environmental and social conditions.

  19. Heritability of the somatotype components in Biscay families.

    Science.gov (United States)

    Rebato, E; Jelenkovic, A; Salces, I

    2007-01-01

    The anthropometric somatotype is a quantitative description of body shape and composition. Familial studies indicate the existence of a familial resemblance for this phenotype and they suggest a substantial action by genetic factors on this aggregation. The aim of this study is to examine the degree of familial resemblance of the somatotype components and of a factor of shape, in a sample of Biscay nuclear families (Basque Country, Spain). One thousand three hundred and thirty nuclear families were analysed. The anthropometric somatotype components [Carter, J.E.L., Heath, B.H., 1990. Somatotyping. Development and applications. Cambridge University Press, Cambridge, p. 503] were computed. Each component was fitted for the other two through a stepwise multiple regression, and also fitted through the LMS method [Cole, T., 1988. Fitting smoothed centile curves to reference data. J. Roy. Stat. Soc. 151, 385-418] in order to eliminate the age, sex and generation effects. The three raw components were introduced in a PCA from which a shape factor (PC1) was extracted for each generation. The correlations analysis was performed with the SEGPATH package [Province, M.A., Rao, D.C., 1995. General purpose model and computer programme for combined segregation and path analysis (SEGPATH): automatically creating computer from symbolic language model specifications. Genet. Epidemiol. 12, 203-219]. A general model of transmission and nine reduced models were tested. Maximal heritability was estimated with the formula of [Rice, T., Warwick, D.E., Gagnon, J., Bouchard, C., Leon, A.S., Skinner, J.S., Wilmore, J.H., Rao, D.C., 1997. Familial resemblance for body composition measures: the HERITAGE family study. Obes. Res. 5, 557-562]. The correlations were higher between offspring than in parents and offspring and a significant resemblance between mating partners existed. Maximum heritabilities were 55%, 52% and 46% for endomorphy, mesomorphy and ectomorphy, respectively, and 52% for PC1

  20. Use of a genealogical database demonstrates heritability of pulmonary fibrosis.

    Science.gov (United States)

    Scholand, Mary Beth; Coon, Hilary; Wolff, Roger; Cannon-Albright, Lisa

    2013-10-01

    Pulmonary fibrosis (PF) is a progressive fatal disease of unknown etiology. Identification of risk genes and pathways will enhance our understanding of this disease. Analysis of Utah genealogical resources has shown previously strong evidence for a genetic contribution to other disease, such as cancer. This approach has led to gene discovery in diseases, such as breast cancer and colon cancer and is used here for PF to quantify the heritability. We hypothesize that there is a heritable contribution to death from PF and use existing genealogic and death certificate data to examine patterns of relatedness amongst individuals who have died of PF. We analyzed familial clustering of individuals who died from PF using the Utah Population Database, a unique population-based genealogical resource that has been linked to death certificates dating from 1904. We identified 1,000 individuals with at least three generations of genealogy data and a cause of death documented as PF (cases). We estimated the relative risk (RR) of death from PF among the first-, second-, and third-degree relatives of cases. We also tested the hypothesis of excess relatedness among the cases by comparing the average pairwise relatedness of all cases to the average pair-wise relatedness of 1,000 sets of matched controls. We observed significantly increased risk for death from PF among the first- (RR = 4.69), second- (RR = 1.92), and third-degree relatives (RR = 1.14) of cases. The average relatedness of the 1,000 cases was significantly higher than the expected average relatedness of matched control sets (p < 0.001). When close (first- and second-degree) relationships were ignored, significantly increased relatedness remained (p = 0.002). Our results demonstrate significant clustering among both close and distant relatives, providing strong support for genetic contributions to death from PF. High-risk pedigrees derived from this unique resource may help identify new risk genes and gene

  1. Resistance to infectious diseases is a heritable trait in rabbits.

    Science.gov (United States)

    Gunia, M; David, I; Hurtaud, J; Maupin, M; Gilbert, H; Garreau, H

    2015-12-01

    Selection for disease resistance is a powerful way to improve the health status of herds and to reduce the use of antibiotics. The objectives of this study were to estimate 1) the genetic parameters for simple visually assessed disease syndromes and for a composite trait of resistance to infectious disease including all syndromes and 2) their genetic correlations with production traits in a rabbit population. Disease symptoms were recorded in the selection herds of 2 commercial paternal rabbit lines during weighing at the end of the test (63 and 70 d of age, respectively). Causes of mortality occurring before these dates were also recorded. Seven disease traits were analyzed: 3 elementary traits visually assessed by technicians on farm (diarrhea, various digestive syndromes, and respiratory syndromes), 2 composite traits (all digestive syndromes and all infectious syndromes), and 2 mortality traits (digestive mortality and infectious mortality). Each animal was assigned only 1 disease trait, corresponding to the main syndrome ( = 153,400). Four production traits were also recorded: live weight the day before the end of test on most animals ( = 137,860) and cold carcass weight, carcass yield, and perirenal fat percentage of the carcass on a subset of slaughtered animals ( = 13,765). Records on both lines were analyzed simultaneously using bivariate linear animal models after validation of consistency with threshold models applied to logit-transformed traits. The heritabilities were low for disease traits, from 0.01 ± 0.002 for various digestive syndromes to 0.04 ± 0.004 for infectious mortality, and moderate to high for production traits. The genetic correlations between digestive syndromes were high and positive, whereas digestive and respiratory syndromes were slightly negatively correlated. The genetic correlations between the composite infectious disease trait and digestive or respiratory syndromes were moderate. Genetic correlations between disease and

  2. An Updated View of Translocator Protein (TSPO

    Directory of Open Access Journals (Sweden)

    Nunzio Denora

    2017-12-01

    Full Text Available Decades of study on the role of mitochondria in living cells have evidenced the importance of the 18 kDa mitochondrial translocator protein (TSPO, first discovered in the 1977 as an alternative binding site for the benzodiazepine diazepam in the kidneys. This protein participates in a variety of cellular functions, including cholesterol transport, steroid hormone synthesis, mitochondrial respiration, permeability transition pore opening, apoptosis, and cell proliferation. Thus, TSPO has become an extremely attractive subcellular target for the early detection of disease states that involve the overexpression of this protein and the selective mitochondrial drug delivery. This special issue was programmed with the aim of summarizing the latest findings about the role of TSPO in eukaryotic cells and as a potential subcellular target of diagnostics or therapeutics. A total of 9 papers have been accepted for publication in this issue, in particular, 2 reviews and 7 primary data manuscripts, overall describing the main advances in this field.

  3. The mathematical simulation of carbohydrate translocation in natural ...

    African Journals Online (AJOL)

    Carbohydrate translocation within plants, in each growth stage, is driven by the ration of the existing mass of given plant parts to the total plant mass. The mass in each plant organ strives to attain an optimal proportion of the total plant mass by means of the translocation of carbohydrate. In each growth stage a maximum ...

  4. Label Free Chromosome Translocation Detection with Silicon nanowires

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Andersen, Karsten Brandt; Frøhling, Kasper Bayer

    HROMOSOME translocation, which is a rearrangement of arms between two chromosomes, is a major group of chromosome abnormalities leading to cancer. As a result, two derivative chromosomes with sequences coming from both chromosomes are formed. The current translocation detection method is a Fluore...

  5. Handedness, heritability, neurocognition and brain asymmetry in schizophrenia

    Science.gov (United States)

    Deep-Soboslay, Amy; Hyde, Thomas M.; Callicott, Joseph P.; Lener, Marc S.; Verchinski, Beth A.; Apud, José A.; Weinberger, Daniel R.

    2010-01-01

    Higher rates of non-right-handedness (i.e. left- and mixed-handedness) have been reported in schizophrenia and have been a centrepiece for theories of anomalous lateralization in this disorder. We investigated whether non-right-handedness is (i) more prevalent in patients as compared with unaffected siblings and healthy unrelated control participants; (ii) familial; (iii) associated with disproportionately poorer neurocognition; and (iv) associated with grey matter volume asymmetries. We examined 1445 participants (375 patients with schizophrenia, 502 unaffected siblings and 568 unrelated controls) using the Edinburgh Handedness Inventory, a battery of neuropsychological tasks and structural magnetic resonance imaging data. Patients displayed a leftward shift in Edinburgh Handedness Inventory laterality quotient scores as compared with both their unaffected siblings and unrelated controls, but this finding disappeared when sex was added to the model. Moreover, there was no evidence of increased familial risk for non-right-handedness. Non-right-handedness was not associated with disproportionate neurocognitive disadvantage or with grey matter volume asymmetries in the frontal pole, lateral occipital pole or temporal pole. Non-right-handedness was associated with a significant reduction in left asymmetry in the superior temporal gyrus in both patients and controls. Our data neither provide strong support for ‘atypical’ handedness as a schizophrenia risk-associated heritable phenotype nor that it is associated with poorer neurocognition or anomalous cerebral asymmetries. PMID:20639549

  6. Repeatability and Heritability of Behavioural Types in a Social Cichlid

    Directory of Open Access Journals (Sweden)

    Noémie Chervet

    2011-01-01

    Full Text Available Aim. The quantitative genetics underlying correlated behavioural traits (‘‘animal personality’’ have hitherto been studied mainly in domesticated animals. Here we report the repeatability ( and heritability (ℎ2 of behavioural types in the highly social cichlid fish Neolamprologus pulcher. Methods. We tested 1779 individuals repeatedly and calculated the ℎ2 of behavioural types by variance components estimation (GLMM REML, using 1327 offspring from 162 broods from 74 pairs. Results. Repeatability of behavioural types was significant and considerable (0.546, but declined from 0.83 between tests conducted on the same day, to 0.19 on tests conducted up to 1201 days apart. All ℎ2 estimates were significant but low (e.g., pair identity ℎ2=0.15±0.03 SE. Additionally, we found significant variation between broods nested within the parent(s, but these were not related to several environmental factors tested. Conclusions. We conclude that despite a considerable , ℎ2 in this cichlid species is low, and variability in behavioural type appears to be strongly affected by other (nongenetic effects.

  7. Familial resemblance for physique: heritabilities for somatotype components.

    Science.gov (United States)

    Katzmarzyk, P T; Malina, R M; Pérusse, L; Rice, T; Province, M A; Rao, D C; Bouchard, C

    2000-01-01

    To examine familial resemblance in the Heath-Carter anthropometric somatotype in a sample of 328 participants from 103 nuclear families in Northern Ontario (Canada). The three somatotype components (endomorphy, mesomorphy, ectomorphy) were subjected to principal components analysis and the resulting first principal component (PCI) was used as an additional index of physique. The four phenotypes were adjusted for age, sex and generation effects, while each of the three somatotype components was further adjusted for the effects of the other two components using regression procedures. A familial correlation model was fit to the data and used to estimate the degree of familial resemblance in somatotype. For all somatotype variables, the most parsimonious model was one in which there was no spouse resemblance and no sex or generation effects in the familial correlations. Maximal heritabilities were 56%, 68%, 56% and 64% for endomorphy, mesomorphy, ectomorphy and PCI, respectively, indicating significant familial resemblance for the Heath-Carter anthropometric somatotype. Further, the pattern of familial correlations suggests the role of genetic factors in explaining variation in human physique. In general, a pattern of no spouse but significant parent-child correlations implicates the role of genes on human physique, provided that mating is random with regard to these traits.

  8. Social Networks and the Heritability of Migratory Behavior.

    Science.gov (United States)

    Napierala, Jeffrey S; Gage, Timothy

    2016-01-01

    A small but growing body of literature examines the relationship between genetics and human migration. These studies suggest that some DRD4 alleles, particularly 7R+, are related to migration. This is surprising from a sociological perspective, which views migration largely as a product of social and economic forces. However, social relationships with migrants, which have been theorized to influence migration by providing access to migration-specific information and resources, can also be viewed as proxies for genetic relatedness within households. This study computed intraclass correlations for five relatedness groups, along with narrow-sense heritability and environmental correlations, using a large survey of Mexicans. Shared and independent variance components were estimated using multilevel models for the relatedness groups simultaneously with sex and age components. The results indicate that strong environmental influences are exerted on young family members and, to a lesser extent, males. On the other hand, genetic relatedness plays a large role in determining migration for older migrants and females; surprisingly, this is true for both domestic and international migrants.

  9. Handedness, heritability, neurocognition and brain asymmetry in schizophrenia.

    Science.gov (United States)

    Deep-Soboslay, Amy; Hyde, Thomas M; Callicott, Joseph P; Lener, Marc S; Verchinski, Beth A; Apud, José A; Weinberger, Daniel R; Elvevåg, Brita

    2010-10-01

    Higher rates of non-right-handedness (i.e. left- and mixed-handedness) have been reported in schizophrenia and have been a centrepiece for theories of anomalous lateralization in this disorder. We investigated whether non-right-handedness is (i) more prevalent in patients as compared with unaffected siblings and healthy unrelated control participants; (ii) familial; (iii) associated with disproportionately poorer neurocognition; and (iv) associated with grey matter volume asymmetries. We examined 1445 participants (375 patients with schizophrenia, 502 unaffected siblings and 568 unrelated controls) using the Edinburgh Handedness Inventory, a battery of neuropsychological tasks and structural magnetic resonance imaging data. Patients displayed a leftward shift in Edinburgh Handedness Inventory laterality quotient scores as compared with both their unaffected siblings and unrelated controls, but this finding disappeared when sex was added to the model. Moreover, there was no evidence of increased familial risk for non-right-handedness. Non-right-handedness was not associated with disproportionate neurocognitive disadvantage or with grey matter volume asymmetries in the frontal pole, lateral occipital pole or temporal pole. Non-right-handedness was associated with a significant reduction in left asymmetry in the superior temporal gyrus in both patients and controls. Our data neither provide strong support for 'atypical' handedness as a schizophrenia risk-associated heritable phenotype nor that it is associated with poorer neurocognition or anomalous cerebral asymmetries.

  10. Age at fatherhood: heritability and associations with psychiatric disorders.

    Science.gov (United States)

    Frans, E M; Lichtenstein, P; Hultman, C M; Kuja-Halkola, R

    2016-10-01

    Advancing paternal age has been linked to psychiatric disorders. These associations might be caused by the increased number of de novo mutations transmitted to offspring of older men. It has also been suggested that the associations are confounded by a genetic liability for psychiatric disorders in parents. The aim of this study was to indirectly test the confounding hypotheses by examining if there is a genetic component to advancing paternal age and if men with a genetic liability for psychiatric disorders have children at older ages. We examined the genetic component to advancing paternal age by utilizing the twin model in a cohort of male twins (N = 14 679). We also studied ages at childbirth in men with or without schizophrenia, bipolar disorder and/or autism spectrum disorder. Ages were examined in: (1) healthy men, (2) affected men, (3) healthy men with an affected sibling, (4) men with healthy spouses, (5) men with affected spouses, and (6) men with healthy spouses with an affected sibling. The twin analyses showed that late fatherhood is under genetic influence (heritability = 0.33). However, affected men or men with affected spouses did not have children at older ages. The same was found for healthy individuals with affected siblings. Instead, these men were generally having children at younger ages. Although there is a genetic component influencing late fatherhood, our data suggest that the associations are not explained by psychiatric disorders or a genetic liability for psychiatric disorders in the parent.

  11. Multistep Current Signal in Protein Translocation through Graphene Nanopores

    KAUST Repository

    Bonome, Emma Letizia

    2015-05-07

    © 2015 American Chemical Society. In nanopore sensing experiments, the properties of molecules are probed by the variation of ionic currents flowing through the nanopore. In this context, the electronic properties and the single-layer thickness of graphene constitute a major advantage for molecule characterization. Here we analyze the translocation pathway of the thioredoxin protein across a graphene nanopore, and the related ionic currents, by integrating two nonequilibrium molecular dynamics methods with a bioinformatic structural analysis. To obtain a qualitative picture of the translocation process and to identify salient features we performed unsupervised structural clustering on translocation conformations. This allowed us to identify some specific and robust translocation intermediates, characterized by significantly different ionic current flows. We found that the ion current strictly anticorrelates with the amount of pore occupancy by thioredoxin residues, providing a putative explanation of the multilevel current scenario observed in recently published translocation experiments.

  12. Range-wide success of red-cockaded woodpecker translocations.

    Energy Technology Data Exchange (ETDEWEB)

    Edwards, John W; Costa, Ralph

    2004-12-31

    Edwards, John W.; Costa, Ralph. 2004. Range-wide success of red-cockaded woodpecker translocations. In: Red-cockaded woodpecker; Road to Recovery. Proceedings of the 4th Red-cockaded woodpecker Symposium. Ralph Costa and Susan J. Daniels, eds. Savannah, Georgia. January, 2003. Chapter 6. Translocation. Pp 307-311. Abstract: Red-cockaded woodpeckers (Picoides borealis) have declined range-wide during the past century, suffering from habitat loss and the effects of fire exclusion in older southern pine forests. Red-cockaded woodpecker translocations are a potentially important tool in conservation efforts to reestablish red-cockaded woodpeckers in areas from which they have been extirpated. Currently, translocations are critical in ongoing efforts to save and restore the many existing small populations. We examined the effects of demographic and environmental factors on the range-wide success of translocations between 1989 and 1995.

  13. MYC translocation partner gene determines survival of patients with large B-cell lymphoma with MYC- or double-hit MYC/BCL2 translocations

    DEFF Research Database (Denmark)

    Pedersen, Mette Ø; Gang, Anne O; Poulsen, Tim S

    2014-01-01

    data were collected from patient files. MYC translocation was identified in 28/225 patients. IG-MYC translocation partner gene was identified in 12/24 patients. DH translocation was identified in 23/228 patients. IG-MYC translocation partner gene was identified in 9/19 DH patients. Neither MYC-nor DH...

  14. Mechanisms underlying stage-1 TRPL channel translocation in Drosophila photoreceptors.

    Directory of Open Access Journals (Sweden)

    Minh-Ha Lieu

    Full Text Available TRP channels function as key mediators of sensory transduction and other cellular signaling pathways. In Drosophila, TRP and TRPL are the light-activated channels in photoreceptors. While TRP is statically localized in the signaling compartment of the cell (the rhabdomere, TRPL localization is regulated by light. TRPL channels translocate out of the rhabdomere in two distinct stages, returning to the rhabdomere with dark-incubation. Translocation of TRPL channels regulates their availability, and thereby the gain of the signal. Little, however, is known about the mechanisms underlying this trafficking of TRPL channels.We first examine the involvement of de novo protein synthesis in TRPL translocation. We feed flies cycloheximide, verify inhibition of protein synthesis, and test for TRPL translocation in photoreceptors. We find that protein synthesis is not involved in either stage of TRPL translocation out of the rhabdomere, but that re-localization to the rhabdomere from stage-1, but not stage-2, depends on protein synthesis. We also characterize an ex vivo eye preparation that is amenable to biochemical and genetic manipulation. We use this preparation to examine mechanisms of stage-1 TRPL translocation. We find that stage-1 translocation is: induced with ATP depletion, unaltered with perturbation of the actin cytoskeleton or inhibition of endocytosis, and slowed with increased membrane sterol content.Our results indicate that translocation of TRPL out of the rhabdomere is likely due to protein transport, and not degradation/re-synthesis. Re-localization from each stage to the rhabdomere likely involves different strategies. Since TRPL channels can translocate to stage-1 in the absence of ATP, with no major requirement of the cytoskeleton, we suggest that stage-1 translocation involves simple diffusion through the apical membrane, which may be regulated by release of a light-dependent anchor in the rhabdomere.

  15. Characterization of the Infant BMI Peak: Sex Differences, Birth Year Cohort Effects, Association with Concurrent Adiposity, and Heritability

    Science.gov (United States)

    Johnson, William; Choh, Audrey C.; Lee, Miryoung; Towne, Bradford; Czerwinski, Stefan A.; Demerath, Ellen W.

    2014-01-01

    Objectives To characterize an early trait in the BMI-for-age curve, the infant BMI peak. Methods BMI-for-age curves were produced for 747 non-Hispanic, white Fels Longitudinal Study participants, from which individual age (AgePeak) and BMI (BMIPeak) at maximum infant BMI were estimated. Multivariable general linear regression was used to examine the effects of sex and birth year cohort (1929–1950, 1951–1970, and 1971–2010) on AgePeak and BMIPeak, with associations between BMIPeak and concurrent sum of four skinfold thicknesses assessed in a subsample (N = 155). Heritability (h2) of AgePeak and BMIPeak was estimated using maximum-likelihood variance components analysis. Results AgePeak occurred at 9 months of age in both sexes, but BMIPeak was 0.4 kg/m2 higher for boys than for girls (P-value adiposity, AgePeak appears to occur later than does the well-documented peak in infant fat mass and BMIPeak does not capture known sex differences in infant adiposity. Strong heritability of these infant BMI traits suggests investigation of genetic control, and validation of their relationship to body composition is greatly needed. PMID:23606227

  16. Minimizing the cost of translocation failure with decision-tree models that predict species' behavioral response in translocation sites.

    Science.gov (United States)

    Ebrahimi, Mehregan; Ebrahimie, Esmaeil; Bull, C Michael

    2015-08-01

    The high number of failures is one reason why translocation is often not recommended. Considering how behavior changes during translocations may improve translocation success. To derive decision-tree models for species' translocation, we used data on the short-term responses of an endangered Australian skink in 5 simulated translocations with different release conditions. We used 4 different decision-tree algorithms (decision tree, decision-tree parallel, decision stump, and random forest) with 4 different criteria (gain ratio, information gain, gini index, and accuracy) to investigate how environmental and behavioral parameters may affect the success of a translocation. We assumed behavioral changes that increased dispersal away from a release site would reduce translocation success. The trees became more complex when we included all behavioral parameters as attributes, but these trees yielded more detailed information about why and how dispersal occurred. According to these complex trees, there were positive associations between some behavioral parameters, such as fight and dispersal, that showed there was a higher chance, for example, of dispersal among lizards that fought than among those that did not fight. Decision trees based on parameters related to release conditions were easier to understand and could be used by managers to make translocation decisions under different circumstances. © 2015 Society for Conservation Biology.

  17. Fitness consequences of northward dispersal as possible adaptation to climate change, using experimental translocation of a migratory passerine.

    Directory of Open Access Journals (Sweden)

    Claudia Burger

    Full Text Available Climate change leads to rapid, differential changes in phenology across trophic levels, often resulting in temporal mismatches between predators and their prey. If a species cannot easily adjust its timing, it can adapt by choosing a new breeding location with a later phenology of its prey. In this study, we experimentally investigated whether long-distance dispersal to northern breeding grounds with a later phenology could be a feasible process to restore the match between timing of breeding and peak food abundance and thus improve reproductive success. Here, we report the successful translocation of pied flycatchers (Ficedula hypoleuca to natural breeding sites 560 km to the Northeast. We expected translocated birds to have a fitness advantage with respect to environmental phenology, but to potentially pay costs through the lack of other locally adapted traits. Translocated individuals started egg laying 11 days earlier than northern control birds, which were translocated only within the northern site. The number of fledglings produced was somewhat lower in translocated birds, compared to northern controls, and fledglings were in lower body condition. Translocated individuals were performing not significantly different to control birds that remained at the original southern site. The lack of advantage of the translocated individuals most likely resulted from the exceptionally cold spring in which the experiment was carried out. Our results, however, suggest that pied flycatchers can successfully introduce their early breeding phenotype after dispersing to more northern areas, and thus that adaptation through dispersal is a viable option for populations that get locally maladapted through climate change.

  18. 75 FR 21645 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children

    Science.gov (United States)

    2010-04-26

    ... risk for heritable disorders. The changing dynamics of emerging technology and the complexity of... identifies rare genetic, congenital and functional disorders, ensures early management and endeavors to... Standards Institute (CLSI). Blood collection on filter paper for newborn screening programs; approved...

  19. Childhood intelligence is heritable, highly polygenic and associated with FNBP1L

    NARCIS (Netherlands)

    Benyamin, B.; Pourcain, B.; Davis, O.S.; Davies, G.; Hansell, N.K.; Brion, M.J.; Kirkpatrick, R.M.; Cents, R.A.; Franić, S.; Miller, M.B.; Haworth, C.M.; Meaburn, E.; Price, T.S.; Evans, D.M.; Timpson, N.; Kemp, J.; Ring, S.; McArdle, W.; Medland, S.E.; Yang, J.; Harris, S.E.; Liewald, D.C.; Scheet, P.; Xiao, X.; Hudziak, J.J.; de Geus, E.J.C.; Jaddoe, V.W.; Star, J.M.; Verhulst, F.C.; Pennell, C.; Tiemeier, H.; Iacono, W.G.; Palmer, L.J.; Montgomery, G.W.; Martin, N.G.; Boomsma, D.I.; Posthuma, D.; McGue, M.; Wright, M.J.; Davey Smith, G.; Deary, I.J.; Plomin, R.; Visscher, P.M.

    2014-01-01

    Intelligence in childhood, as measured by psychometric cognitive tests, is a strong predictor of many important life outcomes, including educational attainment, income, health and lifespan. Results from twin, family and adoption studies are consistent with general intelligence being highly heritable

  20. Heritability of performance test traits in Chianina, Marchigiana and Romagnola breeds

    National Research Council Canada - National Science Library

    Sbarra, Fiorella; Mantovani, Roberto; Bittante, Giovanni

    2010-01-01

    .... Data of 2422 young bulls (735 Marchigiana, 863 Chianina and 824 Romagnola) were used to update estimates of heritability for performance test traits of aforementioned Italian beef cattle breeds...

  1. HERITABLE VARIATION FOR AGGRESSION AS A REFLECTION OF INDIVIDUAL COPING STRATEGIES

    NARCIS (Netherlands)

    BENUS, RF; BOHUS, B; KOOLHAAS, JM; VANOORTMERSSEN, GA

    1991-01-01

    Evidence is presented in rodents, that individual differences in aggression reflect heritable, fundamentally different, but equally valuable alternative strategies to cope with environmental demands. Generally, aggressive individuals show an active response to aversive situations. In a social

  2. Culture of an aphid heritable symbiont demonstrates its direct role in defence against parasitoids.

    Science.gov (United States)

    Brandt, Jayce W; Chevignon, Germain; Oliver, Kerry M; Strand, Michael R

    2017-11-15

    Heritable symbionts are common in insects with many contributing to host defence. Hamiltonella defensa is a facultative, bacterial symbiont of the pea aphid, Acyrthosiphon pisum that provides protection against the endoparasitoid wasp Aphidius ervi Protection levels vary among strains of H. defensa that are differentially infected by bacteriophages named APSEs. By contrast, little is known about mechanism(s) of resistance owing to the intractability of host-restricted microbes for functional study. Here, we developed methods for culturing strains of H. defensa that varied in the presence and type of APSE. Most H. defensa strains proliferated at 27°C in co-cultures with the TN5 cell line or as pure cultures with no insect cells. The strain infected by APSE3, which provides high levels of protection in vivo, produced a soluble factor(s) that disabled development of A. ervi embryos independent of any aphid factors. Experimental transfer of APSE3 also conferred the ability to disable A. ervi development to a phage-free strain of H. defensa Altogether, these results provide a critical foundation for characterizing symbiont-derived factor(s) involved in host protection and other functions. Our results also demonstrate that phage-mediated transfer of traits provides a mechanism for innovation in host restricted symbionts. © 2017 The Author(s).

  3. Protoplasts from Phytolacca dodecandra L'Herit (endod) and P. americana L. (pokeweed).

    Science.gov (United States)

    Koch, P E; Bonness, M S; Lu, H; Mabry, T J

    1996-08-01

    Pokeweed (Phytolacca americana L.) and endod (P. dodecandra L'Herit) produce ribosome-inactivating proteins which are sequestered in leaf cell walls. These proteins display strong antiviral activity. To aid in studying the antiviral mechanism, we developed protocols to isolate protoplasts from suspension culture cells and leaves. Ninety-five percent of pokeweed or endod culture cells were converted to protoplasts using 2% cellulase, 0.25% pectinase, 0.2 M mannitol, 2% sucrose, 15 mM CaCl2 Murashige and Skoog salts, pH 5.7. Viability was >85% after 24 h. Culture-derived protoplasts were purified by centrifugation through a 15% sucrose pad. Protoplasts collected from the supernatant were then pelleted in 0.3 M mannitol. Pokeweed leaves provided respectable yields (4×10(6) protoplasts/g f w) of partially-purified viable protoplasts when digested in solution containing 1% cellulase, 0.2% Pectolyase, 0.4 M mannitol, CPW salts, 0.5 mM MES, pH 5.6. We were unable to completely separate cell debris from mesophyll protoplasts, which were small and easily damaged by centrifugation. Endod leaves were found to be resilient to several digestion enzymes tested.

  4. Enhanced translocation of bacteria across metabolically stressed epithelia is reduced by butyrate.

    Science.gov (United States)

    Lewis, Kimberley; Lutgendorff, Femke; Phan, Van; Söderholm, Johan D; Sherman, Philip M; McKay, Derek M

    2010-07-01

    The gut microflora in some patients with Crohn's disease can be reduced in numbers of butyrate-producing bacteria and this could result in metabolic stress in the colonocytes. Thus, we hypothesized that the short-chain fatty acid, butyrate, is important in the maintenance and regulation of the barrier function of the colonic epithelium. Confluent monolayers of the human colon-derived T84 or HT-29 epithelial cell lines were exposed to dinitrophenol (DNP (0.1 mM), uncouples oxidative phosphorylation) + Escherichia coli (strain HB101, 10(6) cfu) +/- butyrate (3-50 mM). Transepithelial resistance (TER), and bacterial internalization and translocation were assessed over a 24-hour period. Epithelial ultrastructure was assessed by transmission electron microscopy. Epithelia under metabolic stress display decreased TER and increased numbers of pseudopodia that is consistent with increased internalization and translocation of the E. coli. Butyrate (but not acetate) significantly reduced the bacterial translocation across DNP-treated epithelia but did not ameliorate the drop in TER in the DNP+E. coli exposed monolayers. Inhibition of bacterial transcytosis across metabolically stressed epithelia was associated with reduced I-kappaB phosphorylation and hence NF-kappaB activation. Reduced butyrate-producing bacteria could result in increased epithelial permeability particularly in the context of concomitant exposure to another stimulus that reduces mitochondria function. We speculate that prebiotics, the substrate for butyrate synthesis, is a valuable prophylaxis in the regulation of epithelial permeability and could be of benefit in preventing relapses in IBD.

  5. Heritability of pulmonary function estimated from genome-wide SNPs in healthy Japanese adults.

    Science.gov (United States)

    Yamada, Hideyasu; Yatagai, Yohei; Masuko, Hironori; Sakamoto, Tohru; Iijima, Hiroaki; Naito, Takashi; Noguchi, Emiko; Hirota, Tomomitsu; Tamari, Mayumi; Hizawa, Nobuyuki

    2015-03-01

    Pulmonary function is a heritable trait, and recent genome-wide association studies (GWASs) have identified a number of loci influencing the trait. Genome-wide Complex Trait Analysis (GCTA) is a novel method provided by a software package that estimates the total additive genetic influence caused by common single nucleotide polymorphisms (SNPs) on whole-genome arrays. We conducted a GWAS and assessed the heritability of pulmonary function in an adult Japanese population using this approach. We initially conducted a GWAS on %forced vital capacity (FVC), %forced expiratory volume (FEV1) and FEV1/FVC in healthy Japanese adults (N=967). We then examined the heritability of these traits using GCTA with a total of 480,026 SNPs. We also estimated the genetic impact of the 24 genes identified as susceptibility genes to FEV1/FVC in six previous GWASs on the heritability of FEV1/FVC in the Japanese population. The heritabilities for %FVC, %FEV1, and FEV1/FVC were 71.2%, 51.9% and 41.6%, respectively. These results corresponded to previous heritability estimates for pulmonary function obtained by GCTA or by twin studies. The 24 previously reported pulmonary function genes accounted for 4.3-12.0% of the entire estimated heritability of FEV1/FVC. This study demonstrated that the heritability of pulmonary function traits can be explained by the additive effects of multiple common SNPs in healthy Japanese adults. The pulmonary function genes reported in previous GWASs of non-Japanese populations showed a definite impact of the genes on FEV1/FVC, thus indicating the presence of common pathways related to this trait beyond ethnicity. Copyright © 2014 The Japanese Respiratory Society. Published by Elsevier B.V. All rights reserved.

  6. What role does heritability play in transgenerational phenotypic responses to captivity? Implications for managing captive populations.

    Science.gov (United States)

    Courtney Jones, Stephanie K; Byrne, Phillip G

    2017-12-01

    Animals maintained in captivity exhibit rapid changes in phenotypic traits, which may be maladaptive for natural environments. The phenotype can shift away from the wild phenotype via transgenerational effects, with the environment experienced by parents influencing the phenotype and fitness of offspring. There is emerging evidence that controlling transgenerational effects could help mitigate the effects of captivity, improving the success of captively bred animals post release. However, controlling transgenerational effects requires knowledge of the mechanisms driving transgenerational changes. To better understand the genetic mechanisms that contribute to transgenerational effects in captivity we investigated the heritability of behavioral phenotypes using mid parent- and single parent-offspring regressions in a population of captive-reared house mouse (Mus musculus) that we had previously shown exhibit transgenerational changes in boldness and activity behavioral types. Slopes for boldness and activity were all positive, indicating a low to moderate degree of heritability. Though, none of the heritability estimates were statistically significant due to the large surrounding errors. However, the large error surrounding the heritability estimates may also indicate that there is variability in heritability between behavioral traits within the boldness and activity behavioral types. The implication of this finding is that the potential for heritable genetic changes in captivity varies considerably between traits. We conclude that continued investigation of the potential for traits to evolve in captivity is needed to better inform captive breeding and reintroduction programs. © 2017 Wiley Periodicals, Inc.

  7. The contribution of additive genetic variation to personality variation: heritability of personality.

    Science.gov (United States)

    Dochtermann, Ned A; Schwab, Tori; Sih, Andrew

    2015-01-07

    Individual animals frequently exhibit repeatable differences from other members of their population, differences now commonly referred to as 'animal personality'. Personality differences can arise, for example, from differences in permanent environmental effects--including parental and epigenetic contributors--and the effect of additive genetic variation. Although several studies have evaluated the heritability of behaviour, less is known about general patterns of heritability and additive genetic variation in animal personality. As overall variation in behaviour includes both the among-individual differences that reflect different personalities and temporary environmental effects, it is possible for personality to be largely genetically influenced even when heritability of behaviour per se is quite low. The relative contribution of additive genetic variation to personality variation can be estimated whenever both repeatability and heritability are estimated for the same data. Using published estimates to address this issue, we found that approximately 52% of animal personality variation was attributable to additive genetic variation. Thus, while the heritability of behaviour is often moderate or low, the heritability of personality is much higher. Our results therefore (i) demonstrate that genetic differences are likely to be a major contributor to variation in animal personality and (ii) support the phenotypic gambit: that evolutionary inferences drawn from repeatability estimates may often be justified. © 2014 The Author(s) Published by the Royal Society. All rights reserved.

  8. Heritability of Recurrent Exertional Rhabdomyolysis in Standardbred and Thoroughbred Racehorses Derived From SNP Genotyping Data

    Science.gov (United States)

    Norton, Elaine M.; Mickelson, James R.; Binns, Matthew M.; Blott, Sarah C.; Caputo, Paul; Isgren, Cajsa M.; McCoy, Annette M.; Moore, Alison; Piercy, Richard J.; Swinburne, June E.; Vaudin, Mark

    2016-01-01

    Recurrent exertional rhabdomyolysis (RER) in Thoroughbred and Standardbred racehorses is characterized by episodes of muscle rigidity and cell damage that often recur upon strenuous exercise. The objective was to evaluate the importance of genetic factors in RER by obtaining an unbiased estimate of heritability in cohorts of unrelated Thoroughbred and Standardbred racehorses. Four hundred ninety-one Thoroughbred and 196 Standardbred racehorses were genotyped with the 54K or 74K SNP genotyping arrays. Heritability was calculated from genome-wide SNP data with a mixed linear and Bayesian model, utilizing the standard genetic relationship matrix (GRM). Both the mixed linear and Bayesian models estimated heritability of RER in Thoroughbreds to be approximately 0.34 and in Standardbred racehorses to be approximately 0.45 after adjusting for disease prevalence and sex. To account for potential differences in the genetic architecture of the underlying causal variants, heritability estimates were adjusted based on linkage disequilibrium weighted kinship matrix, minor allele frequency and variant effect size, yielding heritability estimates that ranged between 0.41–0.46 (Thoroughbreds) and 0.39–0.49 (Standardbreds). In conclusion, between 34–46% and 39–49% of the variance in RER susceptibility in Thoroughbred and Standardbred racehorses, respectively, can be explained by the SNPs present on these 2 genotyping arrays, indicating that RER is moderately heritable. These data provide further rationale for the investigation of genetic mutations associated with RER susceptibility. PMID:27489252

  9. On the reconciliation of missing heritability for genome-wide association studies

    Science.gov (United States)

    Chen, Guo-Bo

    2016-01-01

    The definition of heritability has been unique and clear, but its estimation and estimates vary across studies. Linear mixed model (LMM) and Haseman–Elston (HE) regression analyses are commonly used for estimating heritability from genome-wide association data. This study provides an analytical resolution that can be used to reconcile the differences between LMM and HE in the estimation of heritability given the genetic architecture, which is responsible for these differences. The genetic architecture was classified into three forms via thought experiments: (i) coupling genetic architecture that the quantitative trait loci (QTLs) in the linkage disequilibrium (LD) had a positive covariance; (ii) repulsion genetic architecture that the QTLs in the LD had a negative covariance; (iii) and neutral genetic architecture that the QTLs in the LD had a covariance with a summation of zero. The neutral genetic architecture is so far most embraced, whereas the coupling and the repulsion genetic architecture have not been well investigated. For a quantitative trait under the coupling genetic architecture, HE overestimated the heritability and LMM underestimated the heritability; under the repulsion genetic architecture, HE underestimated but LMM overestimated the heritability for a quantitative trait. These two methods gave identical results under the neutral genetic architecture. A general analytical result for the statistic estimated under HE is given regardless of genetic architecture. In contrast, the performance of LMM remained elusive, such as further depended on the ratio between the sample size and the number of markers, but LMM converged to HE with increased sample size. PMID:27436266

  10. [Development of spontaneous bacterial peritonitis in an experimental model in cirrhotic rats. Relationship with intestinal bacterial translocation].

    Science.gov (United States)

    Martín, L; Sánchez, E; Casafont, F; Agüero, J; Ledesma, P; Nevado, N; Pons Romero, F

    1995-09-01

    Spontaneous bacterial peritonitis (SBP) is one of the most important complication in cirrhotic patients with ascites, but is pathogenesis is not well known. It is thought that the impaired host defences and the passage of enteric bacteria into the mesenteric lymph nodes, named bacterial translocation, may be two important mechanisms in the pathogenesis of SBP. We have studied this phenomenon in an experimental model with oral CC14 induced cirrhotic rats. SBP occurred in 36% of ascitic rats, all cases being produced by enteric Gram (-) bacteria. Bacterial translocation was observed in 100% of rats with SBP but in 53% of rats without SBP (p < 0.05). In all cases the same organism was isolated in ascitic fluid and in mesenteric lymph nodes. These results suggest that bacterial translocation could play an important role in the pathogenesis of SBP.

  11. Does translocation influence physiological stress in the desert tortoise?

    Science.gov (United States)

    Drake, K.K.; Nussear, K.E.; Esque, T.C.; Barber, A.M.; Vittum, K.M.; Medica, P.A.; Tracy, C.R.; Hunter, K.W.

    2012-01-01

    Wildlife translocation is increasingly used to mitigate disturbances to animals or habitat due to human activities, yet little is known about the extent to which translocating animals causes stress. To understand the relationship between physiological stress and translocation, we conducted a multiyear study (2007–2009) using a population of desert tortoises (Gopherus agassizii) near Fort Irwin, California. Blood samples were collected from adult tortoises in three treatment groups (resident, translocated and control) for 1 year prior to and 2 years after translocation. Samples were analyzed by radioimmunoassay for plasma total corticosterone (CORT), a glucocorticoid hormone commonly associated with stress responses in reptiles. CORT values were analyzed in relation to potential covariates (animal sex, date, behavior, treatment, handling time, air temperature, home-range size, precipitation and annual plant production) among seasons and years. CORT values in males were higher than in females, and values for both varied monthly throughout the activity season and among years. Year and sex were strong predictors of CORT, and translocation explained little in terms of CORT. Based on these results, we conclude that translocation does not elicit a physiological stress response in desert tortoises.

  12. Sequential recruitment of study participants may inflate genetic heritability estimates.

    Science.gov (United States)

    Noce, Damia; Gögele, Martin; Schwienbacher, Christine; Caprioli, Giulia; De Grandi, Alessandro; Foco, Luisa; Platzgummer, Stefan; Pramstaller, Peter P; Pattaro, Cristian

    2017-06-01

    After the success of genome-wide association studies to uncover complex trait loci, attempts to explain the remaining genetic heritability (h (2)) are mainly focused on unraveling rare variant associations and gene-gene or gene-environment interactions. Little attention is paid to the possibility that h (2) estimates are inflated as a consequence of the epidemiological study design. We studied the time series of 54 biochemical traits in 4373 individuals from the Cooperative Health Research In South Tyrol (CHRIS) study, a pedigree-based study enrolling ten participants/day over several years, with close relatives preferentially invited within the same day. We observed distributional changes of measured traits over time. We hypothesized that the combination of such changes with the pedigree structure might generate a shared-environment component with consequent h (2) inflation. We performed variance components (VC) h (2) estimation for all traits after accounting for the enrollment period in a linear mixed model (two-stage approach). Accounting for the enrollment period caused a median h (2) reduction of 4%. For 9 traits, the reduction was of >20%. Results were confirmed by a Bayesian Markov chain Monte Carlo analysis with all VCs included at the same time (one-stage approach). The electrolytes were the traits most affected by the enrollment period. The h (2) inflation was independent of the h (2) magnitude, laboratory protocol changes, and length of the enrollment period. The enrollment process may induce shared-environment effects even under very stringent and standardized operating procedures, causing h (2) inflation. Including the day of participation as a random effect is a sensitive way to avoid overestimation.

  13. Mode of ATM-dependent suppression of chromosome translocation

    Energy Technology Data Exchange (ETDEWEB)

    Yamauchi, Motohiro, E-mail: motoyama@nagasaki-u.ac.jp [Graduate School of Biomedical Sciences, Nagasaki University, 1-12-4 Sakamoto, Nagasaki 852-8523 (Japan); Suzuki, Keiji; Oka, Yasuyoshi; Suzuki, Masatoshi; Kondo, Hisayoshi; Yamashita, Shunichi [Graduate School of Biomedical Sciences, Nagasaki University, 1-12-4 Sakamoto, Nagasaki 852-8523 (Japan)

    2011-12-09

    Highlights: Black-Right-Pointing-Pointer We addressed how ATM suppresses frequency of chromosome translocation. Black-Right-Pointing-Pointer We found ATM/p53-dependent G1 checkpoint suppresses translocation frequency. Black-Right-Pointing-Pointer We found ATM and DNA-PKcs function in a common pathway to suppress translocation. -- Abstract: It is well documented that deficiency in ataxia telangiectasia mutated (ATM) protein leads to elevated frequency of chromosome translocation, however, it remains poorly understood how ATM suppresses translocation frequency. In the present study, we addressed the mechanism of ATM-dependent suppression of translocation frequency. To know frequency of translocation events in a whole genome at once, we performed centromere/telomere FISH and scored dicentric chromosomes, because dicentric and translocation occur with equal frequency and by identical mechanism. By centromere/telomere FISH analysis, we confirmed that chemical inhibition or RNAi-mediated knockdown of ATM causes 2 to 2.5-fold increase in dicentric frequency at first mitosis after 2 Gy of gamma-irradiation in G0/G1. The FISH analysis revealed that ATM/p53-dependent G1 checkpoint suppresses dicentric frequency, since RNAi-mediated knockdown of p53 elevated dicentric frequency by 1.5-fold. We found ATM also suppresses dicentric occurrence independently of its checkpoint role, as ATM inhibitor showed additional effect on dicentric frequency in the context of p53 depletion and Chk1/2 inactivation. Epistasis analysis using chemical inhibitors revealed that ATM kinase functions in the same pathway that requires kinase activity of DNA-dependent protein kinase catalytic subunit (DNA-PKcs) to suppress dicentric frequency. From the results in the present study, we conclude that ATM minimizes translocation frequency through its commitment to G1 checkpoint and DNA double-strand break repair pathway that requires kinase activity of DNA-PKcs.

  14. Translocation of threatened plants as a conservation measure in China.

    Science.gov (United States)

    Liu, Hong; Ren, Hai; Liu, Qiang; Wen, XiangYing; Maunder, Michael; Gao, JiangYun

    2015-12-01

    We assessed the current status of plant conservation translocation efforts in China, a topic poorly reported in recent scientific literature. We identified 222 conservation translocation cases involving 154 species, of these 87 were Chinese endemic species and 101 (78%) were listed as threatened on the Chinese Species Red List. We categorized the life form of each species and, when possible, determined for each case the translocation type, propagule source, propagule type, and survival and reproductive parameters. A surprisingly large proportion (26%) of the conservation translocations in China were conservation introductions, largely implemented in response to large-scale habitat destruction caused by the Three-Gorge Dam and another hydropower project. Documentation and management of the translocations varied greatly. Less than half the cases had plant survival records. Statistical analyses showed that survival percentages were significantly correlated with plant life form and the type of planting materials. Thirty percent of the cases had records on whether or not individuals flowered or fruited. Results of information theoretic model selection indicated that plant life form, translocation type, propagule type, propagule source, and time since planting significantly influenced the likelihood of flowering and fruiting on the project level. We suggest that the scientific-based application of species conservation translocations should be promoted as part of a commitment to species recovery management. In addition, we recommend that the common practice of within and out of range introductions in nature reserves to be regulated more carefully due to its potential ecological risks. We recommend the establishment of a national office and database to coordinate conservation translocations in China. Our review effort is timely considering the need for a comprehensive national guideline for the newly announced nation-wide conservation program on species with extremely

  15. Microbiome and bacterial translocation in cirrhosis.

    Science.gov (United States)

    Gómez-Hurtado, Isabel; Such, José; Francés, Rubén

    2016-12-01

    Qualitative and quantitative changes in gut microbiota play a very important role in cirrhosis. Humans harbour around 100 quintillion gut bacteria, thus representing around 10 times more microbial cells than eukaryotic ones. The gastrointestinal tract is the largest surface area in the body and it is subject to constant exposure to these living microorganisms. The existing symbiosis, proven by the lack of proinflammatory response against commensal bacteria, implies the presence of clearly defined communication lines that contribute to the maintenance of homeostasis of the host. Therefore, alterations of gut flora seem to play a role in the pathogenesis and progress of multiple liver and gastrointestinal diseases. This has made its selective modification into an area of high therapeutic interest. Bacterial translocation is defined as the migration of bacteria or bacterial products from the intestines to the mesenteric lymph nodes. It follows that alteration in gut microbiota have shown importance, at least to some extent, in the pathogenesis of several complications arising from terminal liver disease, such as hepatic encephalopathy, portal hypertension and spontaneous bacterial peritonitis. This review sums up, firstly, how liver disease can alter the common composition of gut microbiota, and secondly, how this alteration contributes to the development of complications in cirrhosis. Copyright © 2015 Elsevier España, S.L.U., AEEH y AEG. All rights reserved.

  16. Fiber: effect on bacterial translocation and intestinal mucin content.

    Science.gov (United States)

    Frankel, W; Zhang, W; Singh, A; Bain, A; Satchithanandam, S; Klurfeld, D; Rombeau, J

    1995-01-01

    Total parenteral nutrition (TPN) and elemental diet (ED) produce intestinal atrophy and increase bacterial translocation (BT) to mesenteric lymph nodes. The increased rate of BT may be due to alterations in mucosal structure, enzyme activity, or mucin content. Fiber improves intestinal structure and function in rats and may reduce the rate of BT. This study determined whether the addition of fiber to TPN or ED would maintain intestinal integrity and decrease BT to the mesenteric lymph nodes. Fifty-six adult male Sprague-Dawley rats underwent placement of jugular catheters and were assigned to one of five dietary groups: TPN, TPN+oral oat fiber (TPNF) 2 g/day, ED, ED+oral oat fiber (EDF) 2 g/day, or AIN-76 (control); they were pair-fed for 7 days. On day 8 the mesenteric lymph nodes were removed for bacterial cultures; and jejunal mucosal weight, DNA, protein, alkaline phosphatase, maltase, and jejunal mucin content were measured. Enteral nutrition significantly decreased BT when compared to parenteral feeding, and fiber significantly decreased BT when administered to rats receiving TPN or ED. Improvements in intestinal mucosal structure were not consistently associated with decreased rates of BT. Additionally, BT occurred independently of jejunal mucin concentration. Mechanisms other than maintenance of mucosal structure or mucin content are important in the mediation of fiber-induced decreased BT in rats receiving TPN or ED.

  17. Fragility in the 14q21q translocation region

    Directory of Open Access Journals (Sweden)

    Stacy R. Denison

    2002-01-01

    Full Text Available Aphidicolin (APC-induced chromosomal breakage was analyzed for women representing three generations of a single family and carrying a Robertsonian translocation rob(14q21q. Fluorescence in situ hybridization (FISH analysis confirmed the dicentric constitution of the derived chromosome and indicated the absence of beta-satellite signal at the translocation region. Per-individual analysis of metaphases from APC-treated peripheral blood lymphocyte cultures identified significantly nonrandom chromosomal breakage at the translocation region in all three individuals examined. The APC-inducible fragility at the 14q21q translocation region suggests that this rearrangement was the result of chromosomal mutation at fragile site(s in the progenitor chromosomes, or that this fragility was the result of the fusion of nonfragile progenitor chromosomes.

  18. TRANSLOCATION OF BACTERIA AND ENDOTOXIN IN ORGAN DONORS

    NARCIS (Netherlands)

    van Goor, Harry; Rosman, C; Kooi, K; Wubbels, GH; Bleichrodt, RP

    1994-01-01

    Objective: To determine if bacterial translocation and endotoxin absorption occur in organ donors with an anatomically intact gastrointestinal tract. Design: Case series. Setting: Intensive care units in general and university hospitals. Patients: Twenty-one (multiple) organ donors. Intervention:

  19. Evaluation of cadmium bioaccumulation and translocation by Hopea ...

    African Journals Online (AJOL)

    leaves. In order to evaluate the potential of species selected as phytoremediator, three indicators were used namely, bioconcentration factor (BCF, the metal concentration ratio of plant roots to soil), translocation factor (TF, the metal concentration ...

  20. DNA Translocations through Solid-State Plasmonic Nanopores

    Science.gov (United States)

    2015-01-01

    Nanopores enable label-free detection and analysis of single biomolecules. Here, we investigate DNA translocations through a novel type of plasmonic nanopore based on a gold bowtie nanoantenna with a solid-state nanopore at the plasmonic hot spot. Plasmonic excitation of the nanopore is found to influence both the sensor signal (nanopore ionic conductance blockade during DNA translocation) and the process that captures DNA into the nanopore, without affecting the duration time of the translocations. Most striking is a strong plasmon-induced enhancement of the rate of DNA translocation events in lithium chloride (LiCl, already 10-fold enhancement at a few mW of laser power). This provides a means to utilize the excellent spatiotemporal resolution of DNA interrogations with nanopores in LiCl buffers, which is known to suffer from low event rates. We propose a mechanism based on plasmon-induced local heating and thermophoresis as explanation of our observations. PMID:25347403

  1. Heritability of racing durability traits in the Australian and Hong Kong Thoroughbred racing populations.

    Science.gov (United States)

    Velie, B D; Hamilton, N A; Wade, C M

    2016-05-01

    Many attempts have been made to improve the well-being of racing Thoroughbreds through improvements in management and veterinary care. However, these attempts are often limited by the industry's ability to regulate a large number of environmental variables and as a result have arguably had limited success in providing long-lasting change for the breed. To identify heritable durability traits for Thoroughbred horses racing in Australia and Hong Kong. Heritability analysis of a longitudinal dataset. Performance data on the Thoroughbred populations racing in Australia and Hong Kong between 2000 and 2011 (n = 168,993) were used to estimate the heritabilities and probability values of fixed effects and covariates for a range of racing durability traits. Heritabilities for all durability traits were estimated using a single trait animal model. Each model included, as a minimum, the effects of sex and trainer. Racing longevity (0.12 ± 0.01), racing persistence (0.10 ± 0.01), racing frequency (0.03 ± 0.01), spells (a time period between consecutive races, official trials and/or jump-outs greater than 90 days in length) per year (0.05 ± 0.01), spells per 10 starts (0.03 ± 0.01) and variation of days between races (0.08 ± 0.03) were all significantly heritable for horses racing in Australia. Racing longevity (0.08 ± 0.02), racing persistence (0.04 ± 0.02), spells per year (0.06 ± 0.02) and spells per 10 starts (0.11 ± 0.04) were significantly heritable for horses racing in Hong Kong. The heritabilities estimated for durability traits in this study provide support for the successful and practical application of genetic selection methodologies to improving the well-being of racing Thoroughbreds. © 2015 EVJ Ltd.

  2. Molecular studies of translocations and trisomy involving chromosome 13

    Energy Technology Data Exchange (ETDEWEB)

    Robinson, W.P.; Bernasconi, F.; Dutly, F.; Schinzel, A.A. [Univ. of British Columbia, Vancouver (Canada)] [and others

    1996-01-11

    Twenty-four cases of trisomy 13 and one case with disomy 13, but a de novo dic(13,13)(p12p12) chromosome, were examined with molecular markers to determine the origin of the extra (or rearranged) chromosome. Twenty-one of 23 informative patients were consistent with a maternal origin of the extra chromosome. Lack of a third allele at any locus in both paternal origin cases indicate a somatic duplication of the paternal chromosome occurred. Five cases had translocation trisomy. The patient with a paternal rob(13q14q) had a maternal meiotic origin of the trisomy; thus, the paternal inheritance of the translocation chromosome was purely coincidental. Since there is not a significantly increased risk for unbalanced offspring of a t(13q14q) carrier and most trisomies are maternal in origin, this result should not be surprising; however, it illustrates that one cannot infer the origin of translocation trisomy based on parental origin of the translocation. Lack of a third allele at any locus in one of the three t(13q13q) cases indicates that it was most likely an isochromosome of postmeiotic origin, whereas the other two cases showed evidence of recombination. One balanced (nontrisomic) case with a nonmosaic 45, -13, -13, +t(13;13) karyotype was also investigated and was determined to be a somatic Robertsonian translocation between the maternal and paternal homologues, as has been found for all balanced homologous Robertsonian translocations so far investigated. Thus, it is also incorrect to assume in de novo translocation cases that the two involved chromosomes are even from the same parent. Despite a maternal origin of the trisomy, we cannot therefore infer anything about the parental origin of the chromosomes 13 and 14 involved in the translocation in the de novo t(13q14q) case nor for the two t(13;13) chromosomes showing a meiotic origin of the trisomy. 30 refs., 1 fig., 2 tabs.

  3. Role of non-equilibrium conformations on driven polymer translocation

    Science.gov (United States)

    Katkar, H. H.; Muthukumar, M.

    2018-01-01

    One of the major theoretical methods in understanding polymer translocation through a nanopore is the Fokker-Planck formalism based on the assumption of quasi-equilibrium of polymer conformations. The criterion for applicability of the quasi-equilibrium approximation for polymer translocation is that the average translocation time per Kuhn segment, ⟨τ⟩/NK, is longer than the relaxation time τ0 of the polymer. Toward an understanding of conditions that would satisfy this criterion, we have performed coarse-grained three dimensional Langevin dynamics and multi-particle collision dynamics simulations. We have studied the role of initial conformations of a polyelectrolyte chain (which were artificially generated with a flow field) on the kinetics of its translocation across a nanopore under the action of an externally applied transmembrane voltage V (in the absence of the initial flow field). Stretched (out-of-equilibrium) polyelectrolyte chain conformations are deliberately and systematically generated and used as initial conformations in translocation simulations. Independent simulations are performed to study the relaxation behavior of these stretched chains, and a comparison is made between the relaxation time scale and the mean translocation time (⟨τ⟩). For such artificially stretched initial states, ⟨τ⟩/NK theory of polyelectrolyte dynamics reveals that the Zimm relaxation time (τZimm) is shorter than the mean translocation time for several polymers including single stranded DNA (ssDNA), double stranded DNA (dsDNA), and synthetic polymers. Even when these data are rescaled assuming a constant effective velocity of translocation, it is found that for flexible (ssDNA and synthetic) polymers with NK Kuhn segments, the condition ⟨τ⟩/NK < τZimm is satisfied. We predict that for flexible polymers such as ssDNA, a crossover from quasi-equilibrium to non-equilibrium behavior would occur at NK ˜ O(1000).

  4. Slowing DNA Translocation in a Nanofluidic Field-Effect Transistor.

    Science.gov (United States)

    Liu, Yifan; Yobas, Levent

    2016-04-26

    Here, we present an experimental demonstration of slowing DNA translocation across a nanochannel by modulating the channel surface charge through an externally applied gate bias. The experiments were performed on a nanofluidic field-effect transistor, which is a monolithic integrated platform featuring a 50 nm-diameter in-plane alumina nanocapillary whose entire length is surrounded by a gate electrode. The field-effect transistor behavior was validated on the gating of ionic conductance and protein transport. The gating of DNA translocation was subsequently studied by measuring discrete current dips associated with single λ-DNA translocation events under a source-to-drain bias of 1 V. The translocation speeds under various gate bias conditions were extracted by fitting event histograms of the measured translocation time to the first passage time distributions obtained from a simple 1D biased diffusion model. A positive gate bias was observed to slow the translocation of single λ-DNA chains markedly; the translocation speed was reduced by an order of magnitude from 18.4 mm/s obtained under a floating gate down to 1.33 mm/s under a positive gate bias of 9 V. Therefore, a dynamic and flexible regulation of the DNA translocation speed, which is vital for single-molecule sequencing, can be achieved on this device by simply tuning the gate bias. The device is realized in a conventional semiconductor microfabrication process without the requirement of advanced lithography, and can be potentially further developed into a compact electronic single-molecule sequencer.

  5. Success of Delayed Translocation of Loggerhead Turtle Nests

    OpenAIRE

    Abella, Elena; Marco, Adolfo; López-Jurado, Luis F.

    2007-01-01

    Sea turtle embryo mortality in natural nests due to environmental and anthropogenic factors can be very high. To increase hatching success of these endangered species, nest translocation to hatcheries immediately after egg-laying is a common management tool. To test the viability of delayed translocation, we moved 50 loggerhead sea turtle (Caretta caretta) nests to a beach hatchery after various times (0– 96 hr) after egg-laying at Boavista Island (Republic of Cabo Verde, western Af...

  6. Translocation-coupled DNA cleavage by the Type ISP restriction-modification enzymes.

    Science.gov (United States)

    Chand, Mahesh K; Nirwan, Neha; Diffin, Fiona M; van Aelst, Kara; Kulkarni, Manasi; Pernstich, Christian; Szczelkun, Mark D; Saikrishnan, Kayarat

    2015-11-01

    Production of endonucleolytic double-strand DNA breaks requires separate strand cleavage events. Although catalytic mechanisms for simple, dimeric endonucleases are known, there are many complex nuclease machines that are poorly understood. Here we studied the single polypeptide Type ISP restriction-modification (RM) enzymes, which cleave random DNA between distant target sites when two enzymes collide after convergent ATP-driven translocation. We report the 2.7-Å resolution X-ray crystal structure of a Type ISP enzyme-DNA complex, revealing that both the helicase-like ATPase and nuclease are located upstream of the direction of translocation, an observation inconsistent with simple nuclease-domain dimerization. Using single-molecule and biochemical techniques, we demonstrate that each ATPase remodels its DNA-protein complex and translocates along DNA without looping it, leading to a collision complex in which the nuclease domains are distal. Sequencing of the products of single cleavage events suggests a previously undescribed endonuclease model, where multiple, stochastic strand-nicking events combine to produce DNA scission.

  7. Identification and analysis of proton-translocating pyrophosphatases in the methanogenic archaeon Methansarcina mazei.

    Science.gov (United States)

    Bäumer, Sebastian; Lentes, Sabine; Gottschalk, Gerhard; Deppenmeier, Uwe

    2002-03-01

    Analysis of genome sequence data from the methanogenic archaeon Methanosarcina mazei Gö1 revealed the existence of two open reading frames encoding proton-translocating pyrophosphatases (PPases). These open reading frames are linked by a 750-bp intergenic region containing TC-rich stretches and are transcribed in opposite directions. The corresponding polypeptides are referred to as Mvp1 and Mvp2 and consist of 671 and 676 amino acids, respectively. Both enzymes represent extremely hydrophobic, integral membrane proteins with 15 predicted transmembrane segments and an overall amino acid sequence similarity of 50.1%. Multiple sequence alignments revealed that Mvp1 is closely related to eukaryotic PPases, whereas Mvp2 shows highest homologies to bacterial PPases. Northern blot experiments with RNA from methanol-grown cells harvested in the mid-log growth phase indicated that only Mvp2 was produced under these conditions. Analysis of washed membranes showed that Mvp2 had a specific activity of 0.34 U mg (protein)(-1). Proton translocation experiments with inverted membrane vesicles prepared from methanol-grown cells showed that hydrolysis of 1 mol of pyrophosphate was coupled to the translocation of about 1 mol of protons across the cytoplasmic membrane. Appropriate conditions for mvp1 expression could not be determined yet. The pyrophosphatases of M. mazei Gö1 represent the first examples of this enzyme class in methanogenic archaea and may be part of their energy-conserving system.

  8. [Surgical management of monocular torsion and head tilt after macular translocation].

    Science.gov (United States)

    Klainguti, G; Nguyen, C

    2005-03-01

    Macular translocation following 360 degrees retinotomy is a possible surgical treatment of patients with age-related macular degeneration. However, it produces important subjective disturbances with diplopia and head tilt due to cyclodeviation. Complex surgical procedures involving both oblique muscles and two or four recti have been advocated. Four symptomatic patients with macular translocation underwent counter-rotating surgery by very large recession and advancement of both oblique muscles of the affected eye. Preoperative subjective cyclo-deviations varied between 25 degrees and 60 degrees and head tilt ranged between 25 degrees and 45 degrees . Reduction of cyclodeviation ranged between 22 degrees ant 30 degrees in our four patients. Two patients showed residual cyclo-deviations of 3 degrees and 7 degrees with complete recovery of the head tilt. The remaining two patients showed significant subjective improvements and important reductions of head tilt, in spite of a large residual cyclodeviation. No patient exhibited binocular vision. Without jeopardizing the anterior segment blood supply of these elderly patients, a combined surgical procedure on both oblique muscles has shown to be sufficiently effective in reducing subjective cyclodeviation and head tilt in four cases of macular translocation. A complete counter-rotation does not seem to be required to achieve an important improvement of subjective symptoms. This may be due to sensorial adaptation.

  9. Intestinal Dysbiosis, Barrier Dysfunction, and Bacterial Translocation Account for CKD-Related Systemic Inflammation.

    Science.gov (United States)

    Andersen, Kirstin; Kesper, Marie Sophie; Marschner, Julian A; Konrad, Lukas; Ryu, Mi; Kumar Vr, Santhosh; Kulkarni, Onkar P; Mulay, Shrikant R; Romoli, Simone; Demleitner, Jana; Schiller, Patrick; Dietrich, Alexander; Müller, Susanna; Gross, Oliver; Ruscheweyh, Hans-Joachim; Huson, Daniel H; Stecher, Bärbel; Anders, Hans-Joachim

    2017-01-01

    CKD associates with systemic inflammation, but the underlying cause is unknown. Here, we investigated the involvement of intestinal microbiota. We report that collagen type 4 α3-deficient mice with Alport syndrome-related progressive CKD displayed systemic inflammation, including increased plasma levels of pentraxin-2 and activated antigen-presenting cells, CD4 and CD8 T cells, and Th17- or IFNγ-producing T cells in the spleen as well as regulatory T cell suppression. CKD-related systemic inflammation in these mice associated with intestinal dysbiosis of proteobacterial blooms, translocation of living bacteria across the intestinal barrier into the liver, and increased serum levels of bacterial endotoxin. Uremia did not affect secretory IgA release into the ileum lumen or mucosal leukocyte subsets. To test for causation between dysbiosis and systemic inflammation in CKD, we eradicated facultative anaerobic microbiota with antibiotics. This eradication prevented bacterial translocation, significantly reduced serum endotoxin levels, and fully reversed all markers of systemic inflammation to the level of nonuremic controls. Therefore, we conclude that uremia associates with intestinal dysbiosis, intestinal barrier dysfunction, and bacterial translocation, which trigger the state of persistent systemic inflammation in CKD. Uremic dysbiosis and intestinal barrier dysfunction may be novel therapeutic targets for intervention to suppress CKD-related systemic inflammation and its consequences. Copyright © 2016 by the American Society of Nephrology.

  10. PRODUCTION OF A NOVEL ROBERTSONIAN TRANSLOCATION FROM THINOPYRUM BESSARABICUM INTO BREAD WHEAT.

    Science.gov (United States)

    Ghazali, S; Mirzaghaderi, G; Majdi, M

    2015-01-01

    Development of wheat-alien translocation lines will facilitate its practical utilization in wheat improvement. The objective of the present study was to produce compensating wheat--Thinopyrum bessarabicum whole arm Robertsonian translocations (RobTs) involving chromosomes 2B of wheat and 2E(b) of Th. bessarabicum through the mechanism of centric breakage-fusion. F2 population from crosses between DS2E(b)(2B) substitution line and bread wheat 'Roushan' (2n = 6x = 42, AABBDD) as female parent were made. Forty one F2 lines (L1 to L41) were screened for their chromosome composition. Three 2E(b) specific PCR-based Landmark Unique Gene (PLUG) markers were used for screening F2 progeny derived from plants double-monosomic for chromosome 2B and 2E(b). Two Rob Ts (-5%) were observed among F2 plants. Homozygous translocation (T2E(b)S.2BL) with good plant vigor and full fertility were selected from F3 families. The T2E(b)S.2BL stock has longer awn than that of its parents. It is cytogenetically stable, and may be useful in wheat improvement.

  11. The Heritability of Glaucoma-Related Traits Corneal Hysteresis, Central Corneal Thickness, Intraocular Pressure, and Choroidal Blood Flow Pulsatility

    OpenAIRE

    Ellen E Freeman; Marie-Hélène Roy-Gagnon; Denise Descovich; Hugues Massé; Lesk, Mark R.

    2013-01-01

    PURPOSE: The purpose of this work was to investigate the heritability of potential glaucoma endophenotypes. We estimated for the first time the heritability of the pulsatility of choroidal blood flow. We also sought to confirm the heritability of corneal hysteresis, central corneal thickness, and 3 ways of measuring intraocular pressure. METHODS: Measurements were performed on 96 first-degree relatives recruited from Maisonneuve-Rosemont Hospital in Montreal. Corneal hysteresis was determined...

  12. Evaluation of wheat chromosome translocation lines for high temperature stress tolerance at grain filling stage.

    Directory of Open Access Journals (Sweden)

    Gautam Prasad Pradhan

    Full Text Available High temperature (HT, heat stress is detrimental to wheat (Triticum aestivum L. production. Wild relatives of bread wheat may offer sources of HT stress tolerance genes because they grow in stressed habitats. Wheat chromosome translocation lines, produced by introgressing small segments of chromosome from wild relatives to bread wheat, were evaluated for tolerance to HT stress during the grain filling stage. Sixteen translocation lines and four wheat cultivars were grown at optimum temperature (OT of 22/14°C (day/night. Ten days after anthesis, half of the plants were exposed to HT stress of 34/26°C for 16 d, and other half remained at OT. Results showed that HT stress decreased grain yield by 43% compared with OT. Decrease in individual grain weight (by 44% was the main reason for yield decline at HT. High temperature stress had adverse effects on leaf chlorophyll content and Fv/Fm; and a significant decrease in Fv/Fm was associated with a decline in individual grain weight. Based on the heat response (heat susceptibility indices, HSIs of physiological and yield traits to each other and to yield HSI, TA5594, TA5617, and TA5088 were highly tolerant and TA5637 and TA5640 were highly susceptible to HT stress. Our results suggest that change in Fv/Fm is a highly useful trait in screening genotypes for HT stress tolerance. This study showed that there is genetic variability among wheat chromosome translocation lines for HT stress tolerance at the grain filling stage and we suggest further screening of a larger set of translocation lines.

  13. Mental retardation due to chromosomal translocation in an Iranian consanguineous family: report of three cases

    Directory of Open Access Journals (Sweden)

    Soudeh Ghafouri-Fard

    2017-02-01

    Full Text Available Background: Mental retardation is defined as impaired mental capacity and ability to comply with environmental and social conditions. Chromosomal abnormalities are the most important causes of mental retardation. Carriers of balanced chromosomal translocation are phenotypically normal, although they may be at risk of infertility, recurrent miscarriage or giving birth to mentally retarded children. These abnormalities are caused because chromosomes participated in the reciprocal translocations produce quadrivalents at meiosis. These quadrivalents segregate and lead to several different meiotic outcomes, just two of which are normal or balanced. Case Presentation: A consanguineous family with three mentally retarded daughters at the ages of 24, 18 and 10 years was referred to Comprehensive Medical Genetics Centre, Shiraz, Iran in 2015. Family history showed a case of unexplained infant death as well as a spontaneous abortion. Three survived siblings had hypotonia and severe developmental delay during infantile period. In addition, they suffer from primary amenorrhea. Two siblings have vesicoureteral reflux (VUR. Cytogenetic analysis of two patients showed 46,XX,t(6;12(q23;q22,der(9t(8;9(q24;p24 with partial monosomy of chromosome 9 and partial trisomy of 8q24 segment, while the other patient had 46,XX,der(12t(6;12(q23;q22 with partial monosomy of 12q22qter and partial trisomy of 6q23qter segment. Their mother had two balanced chromosomal translocations (46, XX, t(6,12(q21;q22, t(8,9(q24;p24. Conclusion: The above presented case is another example for the rare occurrence of double balanced chromosomal translocations in a phenotypically normal person. Although the most important causes of mental retardation in consanguineous marriages are autosomal recessive disorders, the role of chromosomal aberrations in mental retardation in these families must not be neglected. In other words, cytogenetic studies should be performed as a first line test in

  14. Heritability of flight and resting metabolic rates in the Glanville fritillary butterfly.

    Science.gov (United States)

    Mattila, A L K; Hanski, I

    2014-08-01

    Dispersal capacity is a key life-history trait especially in species inhabiting fragmented landscapes. Evolutionary models predict that, given sufficient heritable variation, dispersal rate responds to natural selection imposed by habitat loss and fragmentation. Here, we estimate phenotypic variance components and heritability of flight and resting metabolic rates (RMRs) in an ecological model species, the Glanville fritillary butterfly, in which flight metabolic rate (FMR) is known to correlate strongly with dispersal rate. We modelled a two-generation pedigree with the animal model to distinguish additive genetic variance from maternal and common environmental effects. The results show that FMR is significantly heritable, with additive genetic variance accounting for about 40% of total phenotypic variance; thus, FMR has the potential to respond to selection on dispersal capacity. Maternal influences on flight metabolism were negligible. Heritability of flight metabolism was context dependent, as in stressful thermal conditions, environmentally induced variation dominated over additive genetic effects. There was no heritability in RMR, which was instead strongly influenced by maternal effects. This study contributes to a mechanistic understanding of the evolution of dispersal-related traits, a pressing question in view of the challenges posed to many species by changing climate and fragmentation of natural habitats. © 2014 The Authors. Journal of Evolutionary Biology © 2014 European Society For Evolutionary Biology.

  15. Heritability of arterial stiffness in a Brazilian population: Baependi Heart Study.

    Science.gov (United States)

    Alvim, Rafael O; Horimoto, Andréa R V R; Oliveira, Camila M; Bortolotto, Luiz A; Krieger, José E; Pereira, Alexandre C

    2017-01-01

    Increased arterial stiffness is an important determinant of cardiovascular disease risk. In addition, it has been recognized that arterial stiffness has familial aggregation; however, there are no studies involving Brazilian families. Thus, the aim of this study was to evaluate the heritability of arterial stiffness in a Brazilian population. In this study, 1675 eligible individuals (both sexes and aged 18-102 years) were distributed in 125 families resident in the municipality of Baependi, a city located in the southeast of Brazil. Carotid-femoral pulse wave velocity (PWV) was measured with a noninvasive automatic device (Complior; Artech Medical, Pantin, France). Variance component approaches, implemented in the SOLAR computer package (San Antonio, Texas, USA), were applied to estimate the heritability of the studied phenotype under different statistical models. Heritability estimates for carotid-femoral PWV stratified by age ranging from 11 to 35% (higher in individuals aged ≤45 years and lower in individuals aged 18-102 years). Age and hypertension showed significant effects on the PWV trait and significantly affect heritability estimates in all models. We conclude that the heritability of carotid-femoral PWV in a Brazilian population is intermediate, and therefore genetic studies evolving arterial stiffness phenotypes should be encouraged.

  16. Evidence for higher heritability of somatotype compared to body mass index in female twins.

    Science.gov (United States)

    Reis, Victor Machado; Machado, João V; Fortes, Marcos S; Fernandes, Paula Roquetti; Silva, António José; Dantas, Paulo Silva; Filho, José Fernandes

    2007-01-01

    The influence of genetics on human physique and obesity has been addressed by the literature. Evidence for heritability of anthropometric characteristics has been previously described, mainly for the body mass index (BMI). However, few studies have investigated the influence of genetics on the Heath-Carter somatotype. The aim of the present study was to assess the heritability of BMI and somatotype (endomorphy, mesomorphy, and ectomorphy) in a group of female monozygotic and dizygotic twins from childhood to early adulthood. A total of 28 females aged from 7 to 19 years old were studied. The group included 5 monozygotic and 9 dizygotic pairs of twins. The heritability was assessed by the twin method (h(2)). The anthropometric measures and somatotype were assessed using standard validated procedures. Significant differences between monozygotic and dizygotic pairs of twins were found for height, endomorphy, ectomorphy, and mesomorphy, and the heritability for these measures was high (h(2) between 0.88 and 0.97). No significant differences were found between monozygotic and dizygotic twins for weight, and the BMI and the heritability indexes were lower for these measures (respectively 0.42 and 0.52). The results of the present study have indicated that the somatotype may be more sensible to genetic influences than the BMI in females.

  17. Estimates of repeatability and heritability of productive and reproductive traits in a herd of Jersey cattle

    Directory of Open Access Journals (Sweden)

    Roman R.M.

    2000-01-01

    Full Text Available Estimates of the repeatability and heritability of 19 measures of performance in Jersey cows were obtained using an animal model with a relationship matrix and a derivative-free restricted maximum likelihood algorithm. The data consisted of 935 records for 374 cows by 69 sires over the period 1969-1987. The estimates were similar to those obtained by ordinary least squares methods reported for the same data set and in other studies, but had smaller error variances. A likelihood ratio test showed agreement between these heritability estimates and those in the literature. The heritability estimates of milk, fat, protein, lactose-mineral, solids-not-fat, and total solids yields were about 0.25; for the corresponding percentages, and for the protein to fat and solids-not-fat to fat ratios, the estimates were 0.50. Heritability estimates were 0.10 or less for the time from parturition to first breeding and for three measures of somatic cell counts. These estimates of heritability in a dairy cattle population in a subtropical environment were not different from those of populations in temperate climates.

  18. On the Estimation of Heritability with Family-Based and Population-Based Samples

    Directory of Open Access Journals (Sweden)

    Youngdoe Kim

    2015-01-01

    Full Text Available For a family-based sample, the phenotypic variance-covariance matrix can be parameterized to include the variance of a polygenic effect that has then been estimated using a variance component analysis. However, with the advent of large-scale genomic data, the genetic relationship matrix (GRM can be estimated and can be utilized to parameterize the variance of a polygenic effect for population-based samples. Therefore narrow sense heritability, which is both population and trait specific, can be estimated with both population- and family-based samples. In this study we estimate heritability from both family-based and population-based samples, collected in Korea, and the heritability estimates from the pooled samples were, for height, 0.60; body mass index (BMI, 0.32; log-transformed triglycerides (log TG, 0.24; total cholesterol (TCHL, 0.30; high-density lipoprotein (HDL, 0.38; low-density lipoprotein (LDL, 0.29; systolic blood pressure (SBP, 0.23; and diastolic blood pressure (DBP, 0.24. Furthermore, we found differences in how heritability is estimated—in particular the amount of variance attributable to common environment in twins can be substantial—which indicates heritability estimates should be interpreted with caution.

  19. Correlation and heritability Analysis in the genetic improvement of camu-camu

    Directory of Open Access Journals (Sweden)

    Mario Pinedo Panduro

    2012-03-01

    Full Text Available In Peru and Brazil have been made between 2002 and 2011, correlation and heritability in search of tools for genetic improvement of camu-camu. We studied basic collections, comparative and progeny clones exist in the INIA, IIAP and INPA. The length of petiole (LP, has a half heritability (in the broad sense of h2 g = 0.42 and correlation coefficients of r2 = 0.37 with fruit yield and r2 = 0.54 with fruit weight. Basal branch number (NRB also shows levels of heritability average (in the strict sense: h2 a = 0.45 and h2 g = 0.33 in the broad sense. NRB in turn significantly correlated with fruit yield (RF (r2 = 0.43, fruit weight (FW (r2 = 0.38 and ascorbic acid (AA (r2 =- 0.30. The values of pH and soluble solids (degrees Brix of the pulp showed a high correlation with AA (r2 = 0.85 and r2 = 0.94 respectively. In light of the information correlation and heritability, we emphasize that the parameters "number of basal branches", "petiole length" and "fruit weight" and present a relatively high correlation with "yield fruit" also have a level intermediate heritability, which qualify them as important tools for the selection of superior plants camu-camu

  20. Heritability estimates of the Big Five personality traits based on common genetic variants.

    Science.gov (United States)

    Power, R A; Pluess, M

    2015-07-14

    According to twin studies, the Big Five personality traits have substantial heritable components explaining 40-60% of the variance, but identification of associated genetic variants has remained elusive. Consequently, knowledge regarding the molecular genetic architecture of personality and to what extent it is shared across the different personality traits is limited. Using genomic-relatedness-matrix residual maximum likelihood analysis (GREML), we here estimated the heritability of the Big Five personality factors (extraversion, agreeableness, conscientiousness, neuroticism and openness for experience) in a sample of 5011 European adults from 527,469 single-nucleotide polymorphisms across the genome. We tested for the heritability of each personality trait, as well as for the genetic overlap between the personality factors. We found significant and substantial heritability estimates for neuroticism (15%, s.e. = 0.08, P = 0.04) and openness (21%, s.e. = 0.08, P Big Five personality traits using the GREML approach. Findings should be considered exploratory and suggest that detectable heritability estimates based on common variants is shared between neuroticism and openness to experiences.

  1. Conflict bear translocation: investigating population genetics and fate of bear translocation in Dachigam National Park, Jammu and Kashmir, India.

    Directory of Open Access Journals (Sweden)

    Mukesh

    Full Text Available The Asiatic black bear population in Dachigam landscape, Jammu and Kashmir is well recognized as one of the highest density bear populations in India. Increasing incidences of bear-human interactions and the resultant retaliatory killings by locals have become a serious threat to the survivorship of black bears in the Dachigam landscape. The Department of Wildlife Protection in Jammu and Kashmir has been translocating bears involved in conflicts, henceforth 'conflict bears' from different sites in Dachigam landscape to Dachigam National Park as a flagship activity to mitigate conflicts. We undertook this study to investigate the population genetics and the fate of bear translocation in Dachigam National Park. We identified 109 unique genotypes in an area of ca. 650 km2 and observed bear population under panmixia that showed sound genetic variability. Molecular tracking of translocated bears revealed that mostly bears (7 out of 11 bears returned to their capture sites, possibly due to homing instincts or habituation to the high quality food available in agricultural croplands and orchards, while only four bears remained in Dachigam National Park after translocation. Results indicated that translocation success was most likely to be season dependent as bears translocated during spring and late autumn returned to their capture sites, perhaps due to the scarcity of food inside Dachigam National Park while bears translocated in summer remained in Dachigam National Park due to availability of surplus food resources. Thus, the current management practices of translocating conflict bears, without taking into account spatio-temporal variability of food resources in Dachigam landscape seemed to be ineffective in mitigating conflicts on a long-term basis. However, the study highlighted the importance of molecular tracking of bears to understand their movement patterns and socio-biology in tough terrains like Dachigam landscape.

  2. Conflict bear translocation: investigating population genetics and fate of bear translocation in Dachigam National Park, Jammu and Kashmir, India.

    Science.gov (United States)

    Mukesh; Sharma, Lalit Kumar; Charoo, Samina Amin; Sathyakumar, Sambandam

    2015-01-01

    The Asiatic black bear population in Dachigam landscape, Jammu and Kashmir is well recognized as one of the highest density bear populations in India. Increasing incidences of bear-human interactions and the resultant retaliatory killings by locals have become a serious threat to the survivorship of black bears in the Dachigam landscape. The Department of Wildlife Protection in Jammu and Kashmir has been translocating bears involved in conflicts, henceforth 'conflict bears' from different sites in Dachigam landscape to Dachigam National Park as a flagship activity to mitigate conflicts. We undertook this study to investigate the population genetics and the fate of bear translocation in Dachigam National Park. We identified 109 unique genotypes in an area of ca. 650 km2 and observed bear population under panmixia that showed sound genetic variability. Molecular tracking of translocated bears revealed that mostly bears (7 out of 11 bears) returned to their capture sites, possibly due to homing instincts or habituation to the high quality food available in agricultural croplands and orchards, while only four bears remained in Dachigam National Park after translocation. Results indicated that translocation success was most likely to be season dependent as bears translocated during spring and late autumn returned to their capture sites, perhaps due to the scarcity of food inside Dachigam National Park while bears translocated in summer remained in Dachigam National Park due to availability of surplus food resources. Thus, the current management practices of translocating conflict bears, without taking into account spatio-temporal variability of food resources in Dachigam landscape seemed to be ineffective in mitigating conflicts on a long-term basis. However, the study highlighted the importance of molecular tracking of bears to understand their movement patterns and socio-biology in tough terrains like Dachigam landscape.

  3. Computer simulation of viral-assembly and translocation

    Science.gov (United States)

    Mahalik, Jyoti Prakash

    We investigated four different problems using coarse grained computational models : self-assembly of single stranded (ss) DNA virus, ejection dynamics of double stranded(ds) DNA from phages, translocation of ssDNA through MspA protein pore, and segmental dynamics of a polymer translocating through a synthetic nanopore. In the first part of the project, we investigated the self-assembly of a virus with and without its genome. A coarse-grained model was proposed for the viral subunit proteins and its genome (ssDNA). Langevin dynamics simulation, and replica exchange method were used to determine the kinetics and energetics of the self-assembly process, respectively. The self-assembly follows a nucleation-growth kind of mechanism. The ssDNA plays a crucial role in the self-assembly by acting as a template and enhancing the local concentration of the subunits. The presence of the genome does not changes the mechanism of the self-assembly but it reduces the nucleation time and enhances the growth rate by almost an order of magnitude. The second part of the project involves the investigation of the dynamics of the ejection of dsDNA from phages. A coarse-grained model was used for the phage and dsDNA. Langevin dynamics simulation was used to investigate the kinetics of the ejection. The ejection is a stochastic process and a slow intermediate rate kinetics was observed for most ejection trajectories. We discovered that the jamming of the DNA at the pore mouth at high packing fraction and for a disordered system is the reason for the intermediate slow kinetics. The third part of the project involves translocation of ssDNA through MspA protein pore. MspA protein pore has the potential for genome sequencing because of its ability to clearly distinguish the four different nucleotides based on their blockade current, but it is a challenge to use this pore for any practical application because of the very fast traslocation time. We resolved the state of DNA translocation

  4. Identification of chromosomal translocation hotspots via scan statistics.

    Science.gov (United States)

    Silva, Israel T; Rosales, Rafael A; Holanda, Adriano J; Nussenzweig, Michel C; Jankovic, Mila

    2014-09-15

    The detection of genomic regions unusually rich in a given pattern is an important undertaking in the analysis of next-generation sequencing data. Recent studies of chromosomal translocations in activated B lymphocytes have identified regions that are frequently translocated to c-myc oncogene. A quantitative method for the identification of translocation hotspots was crucial to this study. Here we improve this analysis by using a simple probabilistic model and the framework provided by scan statistics to define the number and location of translocation breakpoint hotspots. A key feature of our method is that it provides a global chromosome-wide nominal control level to clustering, as opposed to previous methods based on local criteria. While being motivated by a specific application, the detection of unusual clusters is a widespread problem in bioinformatics. We expect our method to be useful in the analysis of data from other experimental approaches such as of ChIP-seq and 4C-seq. The analysis of translocations from B lymphocytes with the method described here reveals the presence of longer hotspots when compared with those defined previously. Further, we show that the hotspot size changes substantially in the absence of DNA repair protein 53BP1. When 53BP1 deficiency is combined with overexpression of activation-induced cytidine deaminase, the hotspot length increases even further. These changes are not detected by previous methods that use local significance criteria for clustering. Our method is also able to identify several exclusive translocation hotspots located in genes of known tumor supressors. The detection of translocation hotspots is done with hot_scan, a program implemented in R and Perl. Source code and documentation are freely available for download at https://github.com/itojal/hot_scan. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  5. Hinge action versus grip in translocation by RNA polymerase.

    Science.gov (United States)

    Nedialkov, Yuri A; Opron, Kristopher; Caudill, Hailey L; Assaf, Fadi; Anderson, Amanda J; Cukier, Robert I; Wei, Guowei; Burton, Zachary F

    2018-01-01

    Based on molecular dynamics simulations and functional studies, a conformational mechanism is posited for forward translocation by RNA polymerase (RNAP). In a simulation of a ternary elongation complex, the clamp and downstream cleft were observed to close. Hinges within the bridge helix and trigger loop supported generation of translocation force against the RNA-DNA hybrid resulting in opening of the furthest upstream i-8 RNA-DNA bp, establishing conditions for RNAP sliding. The β flap tip helix and the most N-terminal β' Zn finger engage the RNA, indicating a path of RNA threading out of the exit channel. Because the β flap tip connects to the RNAP active site through the β subunit double-Ψ-β-barrel and the associated sandwich barrel hybrid motif (also called the flap domain), the RNAP active site is coupled to the RNA exit channel and to the translocation of RNA-DNA. Using an exonuclease III assay to monitor translocation of RNAP elongation complexes, we show that K + and Mg 2+ and also an RNA 3'-OH or a 3'-H 2 affect RNAP sliding. Because RNAP grip to template suggests a sticky translocation mechanism, and because grip is enhanced by increasing K + and Mg 2+ concentration, biochemical assays are consistent with a conformational change that drives forward translocation as observed in simulations. Mutational analysis of the bridge helix indicates that 778-GARKGL-783 (Escherichia coli numbering) is a homeostatic hinge that undergoes multiple bends to compensate for complex conformational dynamics during phosphodiester bond formation and translocation.

  6. Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases

    DEFF Research Database (Denmark)

    Gusev, Alexander; Lee, S Hong; Trynka, Gosia

    2014-01-01

    Regulatory and coding variants are known to be enriched with associations identified by genome-wide association studies (GWASs) of complex disease, but their contributions to trait heritability are currently unknown. We applied variance-component methods to imputed genotype data for 11 common...... diseases to partition the heritability explained by genotyped SNPs (hg(2)) across functional categories (while accounting for shared variance due to linkage disequilibrium). Extensive simulations showed that in contrast to current estimates from GWAS summary statistics, the variance-component approach...... partitions heritability accurately under a wide range of complex-disease architectures. Across the 11 diseases DNaseI hypersensitivity sites (DHSs) from 217 cell types spanned 16% of imputed SNPs (and 24% of genotyped SNPs) but explained an average of 79% (SE = 8%) of hg(2) from imputed SNPs (5.1× enrichment...

  7. Heritability of acquiescence bias and item keying response style associated with the HEXACO personality scale.

    Science.gov (United States)

    Kam, Chester; Schermer, Julie Aitken; Harris, Juliette; Vernon, Philip A

    2013-08-01

    The current research investigates the heritability of two of the most common response styles: acquiescence bias (tendency to agree or disagree with survey items regardless of the items' actual content) and item keying (differential responding related to the use of regular- and reverse-keyed items). We estimated response styles from a common personality measure (HEXACO) and examined the heritability of each with univariate genetics analyses. The results show item keying effect was heritable but acquiescence bias was not. Neither response style was strongly influenced by the shared environment of the twins. Unique environmental effects were found to be substantial for response styles. The current findings have important implications for future research of response behaviors that are often overlooked by behavioral geneticists.

  8. Heritability maps of human face morphology through large-scale automated three-dimensional phenotyping

    Science.gov (United States)

    Tsagkrasoulis, Dimosthenis; Hysi, Pirro; Spector, Tim; Montana, Giovanni

    2017-04-01

    The human face is a complex trait under strong genetic control, as evidenced by the striking visual similarity between twins. Nevertheless, heritability estimates of facial traits have often been surprisingly low or difficult to replicate. Furthermore, the construction of facial phenotypes that correspond to naturally perceived facial features remains largely a mystery. We present here a large-scale heritability study of face geometry that aims to address these issues. High-resolution, three-dimensional facial models have been acquired on a cohort of 952 twins recruited from the TwinsUK registry, and processed through a novel landmarking workflow, GESSA (Geodesic Ensemble Surface Sampling Algorithm). The algorithm places thousands of landmarks throughout the facial surface and automatically establishes point-wise correspondence across faces. These landmarks enabled us to intuitively characterize facial geometry at a fine level of detail through curvature measurements, yielding accurate heritability maps of the human face (www.heritabilitymaps.info).

  9. Heritability analysis of surface-based cortical thickness estimation on a large twin cohort

    Science.gov (United States)

    Shen, Kaikai; Doré, Vincent; Rose, Stephen; Fripp, Jurgen; McMahon, Katie L.; de Zubicaray, Greig I.; Martin, Nicholas G.; Thompson, Paul M.; Wright, Margaret J.; Salvado, Olivier

    2015-03-01

    The aim of this paper is to assess the heritability of cerebral cortex, based on measurements of grey matter (GM) thickness derived from structural MR images (sMRI). With data acquired from a large twin cohort (328 subjects), an automated method was used to estimate the cortical thickness, and EM-ICP surface registration algorithm was used to establish the correspondence of cortex across the population. An ACE model was then employed to compute the heritability of cortical thickness. Heritable cortical thickness measures various cortical regions, especially in frontal and parietal lobes, such as bilateral postcentral gyri, superior occipital gyri, superior parietal gyri, precuneus, the orbital part of the right frontal gyrus, right medial superior frontal gyrus, right middle occipital gyrus, right paracentral lobule, left precentral gyrus, and left dorsolateral superior frontal gyrus.

  10. A note on the heritability of reactivity assessed at field tests for Danish Warmblood horses

    DEFF Research Database (Denmark)

    Rothmann, Janne; Christensen, Ole F.; Søndergaard, Eva

    2014-01-01

    of the horse at field tests. The study included 323 3-year-old Warmblood horses. Data were analyzed according to an animal model, and the estimation was based on restricted maximum likelihood. Results showed a low (0.17) heritability of reactivity. Probably because of the limited number of horses in the study......Temperament traits in horses, especially reactivity, are an important trait in relation to human–horse accidents and the welfare of the horses. However, so far, temperament is often not included in many horse breeding programs. Most of the behavioral genetic studies in horses have been based...... on indirect indications of a sire effect and not on estimations of the heritability of temperament traits. Therefore, the aim of this study was to estimate the heritability of behavior reactions related to reactivity observed in a practical situation, that is, during the evaluation of the conformation...

  11. The high heritability of educational achievement reflects many genetically influenced traits, not just intelligence.

    Science.gov (United States)

    Krapohl, Eva; Rimfeld, Kaili; Shakeshaft, Nicholas G; Trzaskowski, Maciej; McMillan, Andrew; Pingault, Jean-Baptiste; Asbury, Kathryn; Harlaar, Nicole; Kovas, Yulia; Dale, Philip S; Plomin, Robert

    2014-10-21

    Because educational achievement at the end of compulsory schooling represents a major tipping point in life, understanding its causes and correlates is important for individual children, their families, and society. Here we identify the general ingredients of educational achievement using a multivariate design that goes beyond intelligence to consider a wide range of predictors, such as self-efficacy, personality, and behavior problems, to assess their independent and joint contributions to educational achievement. We use a genetically sensitive design to address the question of why educational achievement is so highly heritable. We focus on the results of a United Kingdom-wide examination, the General Certificate of Secondary Education (GCSE), which is administered at the end of compulsory education at age 16. GCSE scores were obtained for 13,306 twins at age 16, whom we also assessed contemporaneously on 83 scales that were condensed to nine broad psychological domains, including intelligence, self-efficacy, personality, well-being, and behavior problems. The mean of GCSE core subjects (English, mathematics, science) is more heritable (62%) than the nine predictor domains (35-58%). Each of the domains correlates significantly with GCSE results, and these correlations are largely mediated genetically. The main finding is that, although intelligence accounts for more of the heritability of GCSE than any other single domain, the other domains collectively account for about as much GCSE heritability as intelligence. Together with intelligence, these domains account for 75% of the heritability of GCSE. We conclude that the high heritability of educational achievement reflects many genetically influenced traits, not just intelligence.

  12. The high heritability of educational achievement reflects many genetically influenced traits, not just intelligence

    Science.gov (United States)

    Krapohl, Eva; Rimfeld, Kaili; Shakeshaft, Nicholas G.; Trzaskowski, Maciej; McMillan, Andrew; Pingault, Jean-Baptiste; Asbury, Kathryn; Harlaar, Nicole; Kovas, Yulia; Dale, Philip S.; Plomin, Robert

    2014-01-01

    Because educational achievement at the end of compulsory schooling represents a major tipping point in life, understanding its causes and correlates is important for individual children, their families, and society. Here we identify the general ingredients of educational achievement using a multivariate design that goes beyond intelligence to consider a wide range of predictors, such as self-efficacy, personality, and behavior problems, to assess their independent and joint contributions to educational achievement. We use a genetically sensitive design to address the question of why educational achievement is so highly heritable. We focus on the results of a United Kingdom-wide examination, the General Certificate of Secondary Education (GCSE), which is administered at the end of compulsory education at age 16. GCSE scores were obtained for 13,306 twins at age 16, whom we also assessed contemporaneously on 83 scales that were condensed to nine broad psychological domains, including intelligence, self-efficacy, personality, well-being, and behavior problems. The mean of GCSE core subjects (English, mathematics, science) is more heritable (62%) than the nine predictor domains (35–58%). Each of the domains correlates significantly with GCSE results, and these correlations are largely mediated genetically. The main finding is that, although intelligence accounts for more of the heritability of GCSE than any other single domain, the other domains collectively account for about as much GCSE heritability as intelligence. Together with intelligence, these domains account for 75% of the heritability of GCSE. We conclude that the high heritability of educational achievement reflects many genetically influenced traits, not just intelligence. PMID:25288728

  13. 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...... dates of 11,363 cows for ICF. The activity traits were derived from electronic activity tags for 3533 Holstein cows. Estimates of heritability were 0.05 for ICF and 0.15 for DFHA. The genetic correlation between ICF and DFHA was strong (0.92). The high heritability estimate and the strong genetic...

  14. [Heritability analysis on serum lipids of adult twins in Qingdao City

    DEFF Research Database (Denmark)

    Lan, Jinfeng; Pang, Zengchang; Wang, Shaojie

    2010-01-01

    OBJECTIVE: To study the level and heritability of serum total cholesterol (TC), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C) and triglycerides (TG) in adult twins sampled from Qingdao City of China. METHODS: 316 pairs of healthy twin aged 18 to 60 years...... were recruited from the database of Qingdao City twin registry. Fasting serum lipids were detected by automatic biochemical analyzer. The zygosity of twins was established by using polymorphic DNA-based microsatellite markers. The heritability was estimated by formulating univariate ACE twin mode in Mx...

  15. Prevalence, concordance, and heritability of Scheuermann kyphosis based on a study of twins

    DEFF Research Database (Denmark)

    Damborg, Frank; Engell, Vilhelm; Andersen, Mikkel

    2006-01-01

    BACKGROUND: The purpose of this study was to establish a cohort of symptomatic twins with Scheuermann kyphosis to provide estimates of prevalence, concordance, odds ratio, and heritability. These estimates indicate to what extent genetic factors contribute to the etiology of this disease. METHODS...... with Scheuermann disease by a doctor"? The prevalence of self-reported Scheuermann disease was calculated, with the total number of answers used as the general population. Pairwise and probandwise concordance, odds ratio, tetrachoric correlations, and heritability were calculated. RESULTS: We found...... that the overall prevalence of Scheuermann disease was 2.8%, with a prevalence of 2.1% among women and 3.6% among men (p

  16. Heritability estimation of osteoarthritis in the pig-tailed macaque (Macaca nemestrina with a look toward future data collection

    Directory of Open Access Journals (Sweden)

    Peter B. Chi

    2014-05-01

    Full Text Available We examine heritability estimation of an ordinal trait for osteoarthritis, using a population of pig-tailed macaques from the Washington National Primate Research Center (WaNPRC. This estimation is non-trivial, as the data consist of ordinal measurements on 16 intervertebral spaces throughout each macaque’s spinal cord, with many missing values. We examine the resulting heritability estimates from different model choices, and also perform a simulation study to compare the performance of heritability estimation with these different models under specific known parameter values. Under both the real data analysis and the simulation study, we find that heritability estimates from an assumption of normality of the trait differ greatly from those of ordered probit regression, which considers the ordinality of the trait. This finding indicates that some caution should be observed regarding model selection when estimating heritability of an ordinal quantity. Furthermore, we find evidence that our real data have little information for valid heritability estimation under ordered probit regression. We thus conclude with an exploration of sample size requirements for heritability estimation under this model. For an ordinal trait, an incorrect assumption of normality can lead to severely biased heritability estimation. Sample size requirements for heritability estimation of an ordinal trait under the threshold model depends on the pedigree structure, trait distribution and the degree of relatedness between each phenotyped individual. Our sample of 173 monkeys did not have enough information from which to estimate heritability, but estimable heritability can be obtained with as few as 180 related individuals under certain scenarios examined here.

  17. Heritability estimation of osteoarthritis in the pig-tailed macaque (Macaca nemestrina) with a look toward future data collection.

    Science.gov (United States)

    Chi, Peter B; Duncan, Andrea E; Kramer, Patricia A; Minin, Vladimir N

    2014-01-01

    We examine heritability estimation of an ordinal trait for osteoarthritis, using a population of pig-tailed macaques from the Washington National Primate Research Center (WaNPRC). This estimation is non-trivial, as the data consist of ordinal measurements on 16 intervertebral spaces throughout each macaque's spinal cord, with many missing values. We examine the resulting heritability estimates from different model choices, and also perform a simulation study to compare the performance of heritability estimation with these different models under specific known parameter values. Under both the real data analysis and the simulation study, we find that heritability estimates from an assumption of normality of the trait differ greatly from those of ordered probit regression, which considers the ordinality of the trait. This finding indicates that some caution should be observed regarding model selection when estimating heritability of an ordinal quantity. Furthermore, we find evidence that our real data have little information for valid heritability estimation under ordered probit regression. We thus conclude with an exploration of sample size requirements for heritability estimation under this model. For an ordinal trait, an incorrect assumption of normality can lead to severely biased heritability estimation. Sample size requirements for heritability estimation of an ordinal trait under the threshold model depends on the pedigree structure, trait distribution and the degree of relatedness between each phenotyped individual. Our sample of 173 monkeys did not have enough information from which to estimate heritability, but estimable heritability can be obtained with as few as 180 related individuals under certain scenarios examined here.

  18. A somatic origin of homologous Robertsonian translocations and isochromosomes

    Energy Technology Data Exchange (ETDEWEB)

    Robinson, W.P.; Bernasconi, F.; Schinzel, A.A. (Univ. of Zurich (Switzerland)); Basaran, S.; Yueksel-Apak, M. (Univ. of Istanbul (Turkey)); Neri, G. (Universita Cattolica, Rome (Italy)); Serville, F. (Hopital d' Enfants Pellegrin, Bordeaux (France)); Balicek, P.; Haluza, R. (Univ. Hospital of Hradeck Kralove, Hradec Kralove (Czech Republic)); Farah, L.M.S. (Escuola Paulista de Medicina, Sao Paulo (Brazil)) (and others)

    1994-02-01

    One t(14q 14q), three t(15q 15q), two t(21q21q), and two t(22q22q) nonmosaic, apparently balanced, de novo Robertsonian translocation cases were investigated with polymorphic markers to establish the origin of the translocated chromosomes. Four cases had results indicative of an isochromosome: one t(14q14q) case with mild mental retardation and maternal uniparental disomy (UPD) for chromosome 14, one t(15q15q) case with the Prader-Willi syndrome and UPD(15), a phenotypically normal carrier of t(22q22q) with maternal UPD(22), and a phenotypically normal t(21q21q) case of paternal UPD(21). All UPD cases showed complete homozygosity throughout the involved chromosome, which is supportive of a postmeiotic origin. In the remaining four cases, maternal and paternal inheritance of the involved chromosome was found, which unambiguously implies a somatic origin. One t(15q15q) female had a child with a ring chromosome 15, which was also of probable postmeiotic origin as recombination between grandparental haplotypes had occurred prior to ring formation. UPD might be expected to result from de novo Robertsonian translocations of meiotic origin; however, all de novo homologous translocation cases, so far reported, with UPD of chromosomes 14, 15, 21, or 22 have been isochromosomes. These data provide the first direct evidence that nonmosaic Robertsonian translocations, as well as isochromosomes, are commonly the result of a mitotic exchange. 75 refs., 1 fig., 4 tabs.

  19. Electrostatics of polymer translocation events in electrolyte solutions.

    Science.gov (United States)

    Buyukdagli, Sahin; Ala-Nissila, T

    2016-07-07

    We develop an analytical theory that accounts for the image and surface charge interactions between a charged dielectric membrane and a DNA molecule translocating through the membrane. Translocation events through neutral carbon-based membranes are driven by a competition between the repulsive DNA-image-charge interactions and the attractive coupling between the DNA segments on the trans and the cis sides of the membrane. The latter effect is induced by the reduction of the coupling by the dielectric membrane. In strong salt solutions where the repulsive image-charge effects dominate the attractive trans-cis coupling, the DNA molecule encounters a translocation barrier of ≈10 kBT. In dilute electrolytes, the trans-cis coupling takes over image-charge forces and the membrane becomes a metastable attraction point that can trap translocating polymers over long time intervals. This mechanism can be used in translocation experiments in order to control DNA motion by tuning the salt concentration of the solution.

  20. Nonabsorbable Antibiotics Reduce Bacterial and Endotoxin Translocation in Hepatectomised Rats

    Directory of Open Access Journals (Sweden)

    S. K. Kakkos

    1997-01-01

    Full Text Available There is increasing evidence that septic complications, occurring after major hepatectomies, may be caused by gram negative bacteria, translocating from the gut. We investigated in rats, the effect of extended hepatectomy on the structure and morphology of the intestinal mucosa as well as on the translocation of intestinal bacteria and endotoxins. We also examined the effect of nonabsorbable antibiotics on reducing the intestinal flora and consequently the phenomenon of translocation by administering neomycin sulphate and cefazoline. Hepatectomy was found to increase translocation, while administration of nonabsorbable antibiotics decreased it significantly. In addition, hepatectomy increased the aerobic cecal bacterial population, which normalised in the group receiving antibiotics. Among the histological parameters evaluated, villus height demonstrated a significant reduction after hepatectomy, while the number of villi per cm and the number of mitoses per crypt, remained unchanged. Our results indicate that administration of nonabsorbable antibiotics presents a positive effect on bacterial and endotoxin translocation after extended hepatectomy, and this may be related to reduction of colonic bacterial load as an intraluminal effect of antibiotics.

  1. Understanding publication bias in reintroduction biology by assessing translocations of New Zealand's herpetofauna.

    Science.gov (United States)

    Miller, Kimberly A; Bell, Trent P; Germano, Jennifer M

    2014-08-01

    The intentional translocation of animals is an important tool for species conservation and ecosystem restoration, but reported success rates are low, particularly for threatened and endangered species. Publication bias further distorts success rates because the results of successful translocations may be more likely to be published than failed translocations. We conducted the first comprehensive review of all published and unpublished translocations of herpetofauna in New Zealand to assess publication bias. Of 74 translocations of 29 species in 25 years, 35 have been reported in the published literature, and the outcomes of 12 have been published. Using a traditional definition of success, publication bias resulted in a gross overestimate of translocation success rates (41.7% and 8.1% for published and all translocations, respectively), but bias against failed translocations was minimal (8.3% and 6.8%, respectively). Publication bias against translocations with uncertain outcomes, the vast majority of projects, was also strong (50.0% and 85.1% for published and all translocations, respectively). Recent translocations were less likely to be published than older translocations. The reasons behind translocations were related to publication. A greater percentage of translocations for conservation and research were published (63.3% and 40.0%, respectively) than translocations for mitigation during land development (10.0%). Translocations conducted in collaboration with a university were more frequently published (82.7% and 24.4%, respectively). To account for some of this publication bias, we reassessed the outcome of each translocation using a standardized definition of success, which takes into consideration the species' life history and the time since release. Our standardized definition of translocation success provided a more accurate summary of success rates and allows for a more rigorous evaluation of the causes of translocation success and failure in large

  2. Differential uptake and translocation of β-HCH and dieldrin by several plant species from hydroponic medium.

    Science.gov (United States)

    Namiki, Sayuri; Otani, Takashi; Seike, Nobuyasu; Satoh, Shinobu

    2015-03-01

    To compare the uptake and translocation of hydrophobic organic chemicals by plant species, the authors performed uptake experiments with β-1,2,3,4,5,6-hexachlorocyclohexane (β-HCH) and 1,2,3,4,10,10-Hexachloro-6,7-epoxy-1,4,4a,5,6,7,8,8a-octahydro-endo-1,4-exo-5,8-dimethanonaphthalene (dieldrin) using 5 species: Hordeum vulgare, Glycine max, Solanum lycopersicum, Brassica oleracea, and Cucurbita pepo. The present study evaluated uptake ability using root concentration factor (RCF) and translocation ability by transpiration stream concentration factor (TSCF). The RCFs of β-HCH and dieldrin did not differ remarkably among species, except that the RCF of β-HCH in B. oleracea was high. The TSCFs of β-HCH and dieldrin were high in C. pepo, which was not superior in uptake as estimated by RCF. The TSCF of dieldrin in C. pepo was decreased in darkness and was markedly decreased by heating of roots. These results support the hypothesis that transport proteins produced in the root contribute to dieldrin translocation. In contrast, TSCF of β-HCH was not decreased by these treatments. Therefore, translocation of β-HCH might not need the contribution of transport proteins. It is possible that C. pepo has a certain function to transport hydrophobic organic chemicals smoothly in root tissues. © 2014 SETAC.

  3. Tracking GLUT2 Translocation by Live-Cell Imaging.

    Science.gov (United States)

    Tsytkin-Kirschenzweig, Sabina; Cohen, Merav; Nahmias, Yaakov

    2018-01-01

    The facilitative glucose transporter (GLUT) family plays a key role in metabolic homeostasis, controlling the absorption rates and rapid response to changing carbohydrate levels. The facilitative GLUT2 transporter is uniquely expressed in metabolic epithelial cells of the intestine, pancreas, liver, and kidney. GLUT2 dysfunction is associated with several pathologies, including Fanconi-Bickel syndrome, a glycogen storage disease, characterized by growth retardation and renal dysfunction. Interestingly, GLUT2 activity is modulated by its cellular localization. Membrane translocation specifically regulates GLUT2 activity in enterocytes, pancreatic β-cells, hepatocytes, and proximal tubule cells. We have established a system to visualize and quantify GLUT2 translocation, and its dynamics, by live imaging of a mCherry-hGLUT2 fusion protein in polarized epithelial cells. This system enables testing of putative modulators of GLUT2 translocation, which are potential drugs for conditions of impaired glucose homeostasis and associated nephropathy.

  4. Translocation techniques used to establish pen farmed Alaskan reindeer

    Directory of Open Access Journals (Sweden)

    R. A. Dieterich

    1990-09-01

    Full Text Available Small herds of reindeer (Rangifer tarandus frequently have been needed to be established in fenced holding pens for research or commercial reasons in Alaska and other areas. Native ranges of reindeer in Alaska were not on road systems, and the diet of the native reindeer had to be changed when they were translocated to small pens. Economics of transportation and feeding played an important role in the feasibility of translocation. Gathering and holding of reindeer for shipment, transport methods, adjustment of free-ranging reindeer to confinement, and a new diet were primary considerations to insure survival. Minimal psychologic stress of short duration, thermoregulation, and physical comfort were extremely important in carrying out a successful translocation. Receiving facilities, feed, and personnel were equally important. A minimum of one month was required to adjust reindeer to confinement and diet change.

  5. The heritability of G2 chromosomal radiosensitivity and its association with cancer in Danish cancer survivors and their offspring

    DEFF Research Database (Denmark)

    Curwen, Gillian B; Cadwell, Kevin K; Winther, Jeanette Falck

    2010-01-01

    To investigate the relationship between chromosomal radiosensitivity and early-onset cancer under the age of 35 years and to examine the heritability of chromosomal radiosensitivity.......To investigate the relationship between chromosomal radiosensitivity and early-onset cancer under the age of 35 years and to examine the heritability of chromosomal radiosensitivity....

  6. Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample

    NARCIS (Netherlands)

    Lin, B.; Mbarek, H.; Willemsen, G.; Dolan, C.V.; Fedko, I.O.; Abdellaoui, A.; de Geus, E.J.C.; Boomsma, D.I.; Hottenga, J.J.

    2015-01-01

    Hair color is one of the most visible and heritable traits in humans. Here, we estimated heritability by structural equation modeling (N = 20,142), and performed a genome wide association (GWA) analysis (N = 7091) and a GCTA study (N = 3340) on hair color within a large cohort of twins, their

  7. Heritable DNA methylation in CD4+ cells among complex families displays genetic and non-genetic effects

    Science.gov (United States)

    DNA methylation at CpG sites is both heritable and influenced by environment, but the relative contributions of each to DNA methylation levels are unclear. We conducted a heritability analysis of CpG methylation in human CD4+ cells across 975 individuals from 163 families in the Genetics of Lipid-lo...

  8. Heritable DNA Methylation in CD4+ Cells among Complex Families Displays Genetic and Non-Genetic Effects.

    Directory of Open Access Journals (Sweden)

    Kenneth Day

    Full Text Available DNA methylation at CpG sites is both heritable and influenced by environment, but the relative contributions of each to DNA methylation levels are unclear. We conducted a heritability analysis of CpG methylation in human CD4+ cells across 975 individuals from 163 families in the Genetics of Lipid-lowering Drugs and Diet Network (GOLDN. Based on a broad-sense heritability (H2 value threshold of 0.4, we identified 20,575 highly heritable CpGs among the 174,445 most variable autosomal CpGs (SD > 0.02. Tests for associations of heritable CpGs with genotype at 2,145,360 SNPs using 717 of 975 individuals showed that ~74% were cis-meQTLs (1 Mb away from the CpG or located on a different chromosome, and 20% of CpGs showed no strong significant associations with genotype (based on a p-value threshold of 1e-7. Genes proximal to the genotype independent heritable CpGs were enriched for functional terms related to regulation of T cell activation. These CpGs were also among those that distinguished T cells from other blood cell lineages. Compared to genes proximal to meQTL-associated heritable CpGs, genotype independent heritable CpGs were moderately enriched in the same genomic regions that escape erasure during primordial germ cell development and could carry potential for generational transmission.

  9. A feasible strategy of preimplantation genetic diagnosis for carriers with chromosomal translocation: Using blastocyst biopsy and array comparative genomic hybridization

    OpenAIRE

    Huang, Chu-Chun; Chang, Li-Jung; Tsai, Yi-Yi; Hung, Chia-Cheng; Fang, Mei-Ya; Su, Yi-Ning; Chen, Hsin-Fu; Chen, Shee-Uan

    2013-01-01

    Patients with chromosomal translocation are highly vulnerable to produce unbalanced gametes that result in recurrent miscarriages, affected offspring, or infertility. Preimplantation genetic diagnosis (PGD) with blastomere biopsy and fluorescent in-situ hybridization (FISH) has been used to select normal/balanced embryos for transfer. However, FISH is inherent with some technical difficulties such as cell fixation and signal reading. Here we introduce a strategy of PGD using blastocyst biopsy...

  10. Metabolism and long-distance translocation of cytokinins.

    Science.gov (United States)

    Kudo, Toru; Kiba, Takatoshi; Sakakibara, Hitoshi

    2010-01-01

    During plant development, distantly-located organs must communicate in order to adapt morphological and physiological features in response to environmental inputs. Among the recognized signaling molecules, a class of phytohormones known as the cytokinins functions as both local and long-distance regulatory signals for the coordination of plant development. This cytokinin-dependent communication system consists of orchestrated regulation of the metabolism, translocation, and signal transduction of this phytohormone class. Here, to gain insight into this elaborate signaling system, we summarize current models of biosynthesis, trans-membrane transport, and long-distance translocation of cytokinins in higher plants.

  11. Role of non-equilibrium conformations on driven polymer translocation.

    Science.gov (United States)

    Katkar, H H; Muthukumar, M

    2018-01-14

    One of the major theoretical methods in understanding polymer translocation through a nanopore is the Fokker-Planck formalism based on the assumption of quasi-equilibrium of polymer conformations. The criterion for applicability of the quasi-equilibrium approximation for polymer translocation is that the average translocation time per Kuhn segment, ⟨τ⟩/NK, is longer than the relaxation time τ0 of the polymer. Toward an understanding of conditions that would satisfy this criterion, we have performed coarse-grained three dimensional Langevin dynamics and multi-particle collision dynamics simulations. We have studied the role of initial conformations of a polyelectrolyte chain (which were artificially generated with a flow field) on the kinetics of its translocation across a nanopore under the action of an externally applied transmembrane voltage V (in the absence of the initial flow field). Stretched (out-of-equilibrium) polyelectrolyte chain conformations are deliberately and systematically generated and used as initial conformations in translocation simulations. Independent simulations are performed to study the relaxation behavior of these stretched chains, and a comparison is made between the relaxation time scale and the mean translocation time (⟨τ⟩). For such artificially stretched initial states, ⟨τ⟩/NK equilibrium approximation. Nevertheless, we observe a scaling of ⟨τ⟩ ∼ 1/V over the entire range of chain stretching studied, in agreement with the predictions of the Fokker-Planck model. On the other hand, for realistic situations where the initial artificially imposed flow field is absent, a comparison of experimental data reported in the literature with the theory of polyelectrolyte dynamics reveals that the Zimm relaxation time (τZimm) is shorter than the mean translocation time for several polymers including single stranded DNA (ssDNA), double stranded DNA (dsDNA), and synthetic polymers. Even when these data are rescaled assuming a

  12. Identification of the chromosomes of the rye translocation tester set.

    Science.gov (United States)

    Sybenga, J; van Eden, J; van der Meijs, Q G; Roeterdink, B W

    1985-05-01

    Intercrossing the Wageningen translocation tester set of rye and the series of 'Imperial' rye additions to 'Chinese Spring' wheat of Sears yielded 29 chromosome disomic translocation hybrids. Observation of trivalents led to the identification of the chromosomes of the tester set in terms of the terminology system used in the Triticinae. The analysis was complicated by very low chiasma frequencies in some short chromosome segments in the hybrids. Nevertheless, it could be safely concluded that 1R=VII; 2R=III; 3R=II; 4R=IV; 5R=VI; 6R=V; 7R=I, which deviates slightly from previous classifications based on other methods.

  13. Heritability of problem drinking and the genetic overlap with personality in a general population sample

    NARCIS (Netherlands)

    de Moor, M.H.M.; Vink, K.; van Beek, J.H.D.A.; Geels, L.M.; Bartels, M.; de Geus, E.J.C.; Willemsen, G.; Boomsma, D.I.

    2011-01-01

    This study examined the heritability of problem drinking and investigated the phenotypic and genetic relationships between problem drinking and personality. In a sample of 5,870 twins and siblings and 4,420 additional family members from the Netherlands Twin Register. Data on problem drinking

  14. Absorption and excretion of black currant anthocyanins in human and Watanabe Heritable Hyperlipidemic rabbits

    DEFF Research Database (Denmark)

    Nielsen, I. L.. F.; Ravn-Haren, Gitte; Dragsted, L. O.

    2003-01-01

    Anthocyanins are thought to protect against cardiovascular diseases. Watanabe heritable hyperlipidemic (WHHL) rabbits are hypercholesterolemic and used as a model of the development of atherosclerosis. To compare the uptake and excretion of anthocyanins in humans and WHHL rabbits, single-dose bla...... as Trolox equivalent antioxidant capacity and ferruc reducing ability of plasma....

  15. A review and meta-analysis of the heritability of specific phobia subtypes and corresponding fears.

    Science.gov (United States)

    Van Houtem, C M H H; Laine, M L; Boomsma, D I; Ligthart, L; van Wijk, A J; De Jongh, A

    2013-05-01

    Evidence from twin studies suggests that genetic factors contribute to the risk of developing a fear or a phobia. The aim of the present study was to review the current literature regarding twin studies describing the genetic basis of specific phobias and their corresponding fears. The analysis included five twin studies on fears and ten twin studies on specific phobias. Heritability estimates of fear subtypes and specific phobia subtypes both varied widely, even within the subtypes. A meta-analysis performed on the twin study results indicated that fears and specific phobias are moderately heritable. The highest mean heritability (±SEM) among fear subtypes was found for animal fear (45%±0.004), and among specific phobias for the blood-injury-injection phobia (33%±0.06). For most phenotypes, variance could be explained solely by additive genetic and unique environmental effects. Given the dearth of independent data on the heritability of specific phobias and fears, additional research is needed. Copyright © 2013 Elsevier Ltd. All rights reserved.

  16. Growth Performance and Initial Heritability Estimates for Growth Traits in Juvenile Sea Urchin Tripneustes gratilla

    Directory of Open Access Journals (Sweden)

    Ma. Josefa Pante

    2007-06-01

    Full Text Available Genetic improvement of performance traits of maricultured species is becoming an important concern. Improvement of performance traits is important for two reasons: it enhances the growth and survival of the animals and it translates to economic gains to the fish farmer. In the sea urchin, Tripneustes gratilla, growth performance of the different families and heritabilities for wet weight, test diameter and test height were estimated from 1,020 offspring from a mating of each of the 15 males with 1 or 2 females. Measurements were done monthly starting at the grow-out stage or four months after hatching. There were significant family differences for the performance traits in sea urchin reared in tanks at the BML hatchery as revealed by ANOVA. Estimates of heritabilities based on the sire component of variance were low for wet weight (0.027, test diameter (0.033 and zero for test height. Heritabilities estimated from the dam component of variance were low for wet weight (0.063, moderate for test diameter (0.286 and test height (0.227. The results indicate that test diameter and wet weight have lowly heritable traits, which means that mass or individual selection may not be the best method for improving the traits for sea urchin populations in Bolinao. Other methods such as family and combined family selection should be explored.

  17. Heritability of Body Mass Index: A comparison between the Netherlands and Spain.

    NARCIS (Netherlands)

    Ordoñana, J.R.; Rebollo-Mesa, I.; González-Javier, F.; Pérez-Riquelme, F.; Martinez-Selva, J.M.; Willemsen, A.H.M.; Boomsma, D.I.

    2007-01-01

    A high body mass index (BMI) is commonly used as an index of overweight and obesity. There is persistent evidence of high heritability for variation in BMI, but the effects of common environment appear inconsistent across different European countries. Our objective was to compare genetic and

  18. Neogenomic events challenge current models of heritability, neuronal plasticity dynamics, and machine learning.

    Science.gov (United States)

    Teixeira, Cláudio Eduardo Corrêa; de Carvalho-Filho, Nelson Monte; Silveira, Luiz Carlos de Lima

    2012-10-01

    We address current needs for neogenomics-based theoretical and computational approaches for several neuroscience research fields, from investigations of heritability properties, passing by investigations of spatiotemporal dynamics in the neuromodulatory microcircuits involved in perceptual learning and attentional shifts, to the application of genetic algorithms to create robots exhibiting ongoing emergence.

  19. Female strobili incidence in a Minnesota population of black spruce: heritability and correlation with height growth

    Science.gov (United States)

    C. Dana Nelson; C. A. Mohn

    1989-01-01

    Significant family variation in female strobili incidence, ripeness-to-flower and production were found in a Minnesota black spruce (Picea mariana (Mill.) B.S.P.) population tested at four locations. Heritability estimates indicated that gain in early flowering from selection would be possible. Height growth through age 12 years was positively correlated (genetic and...

  20. Heritability of Polycystic Ovary Syndrome in a Dutch Twin-family study

    NARCIS (Netherlands)

    Vink, J.M.; Sadrzadeh, S.; Lambalk, C.B.; Boomsma, D.I.

    2006-01-01

    Background: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders among women of reproductive age. There is evidence for a genetic component in PCOS based on familial clustering of cases. Objective: In the present study, the heritability of PCOS was estimated.

  1. Estimation of heritability and genetic gain in height growth in Ceiba ...

    African Journals Online (AJOL)

    However, there is relatively inefficient information available on the heritability and genetic gain in height growth in C. pentandra based on which selection and subsequent breeding could be made. This poses a major challenge to the production of new cultivars for the forestry industry of Ghana. The current study looked at ...

  2. Heritability of HR and BP Response To Exercise Training in the HERITAGE Family Study.

    Science.gov (United States)

    Rice, Treva; Gagnon, Jacques; Leon, Arthur S.; Skinner, James S.; Wilmore, Jack H.; Bouchard, Claude; Rao, D. C.

    2002-01-01

    Assessed the heritability of response to exercise training in resting blood pressure (BP) and heart rate (HR) among sedentary Caucasians comprising 98 families who completed an exercise training program. Results indicated that the trainability of systolic BP and HR in families with elevated BP was partially determined by genetic factors. Diastolic…

  3. DNA evidence for strong genetic stability and increasing heritability of intelligence from age 7 to 12.

    Science.gov (United States)

    Trzaskowski, M; Yang, J; Visscher, P M; Plomin, R

    2014-03-01

    Two genetic findings from twin research have far-reaching implications for understanding individual differences in the development of brain function as indexed by general cognitive ability (g, aka intelligence): (1) The same genes affect g throughout development, even though (2) heritability increases. It is now possible to test these hypotheses using DNA alone. From 1.7 million DNA markers and g scores at ages 7 and 12 on 2875 children, the DNA genetic correlation from age 7 to 12 was 0.73, highly similar to the genetic correlation of 0.75 estimated from 6702 pairs of twins from the same sample. DNA-estimated heritabilities increased from 0.26 at age 7 to 0.45 at age 12; twin-estimated heritabilities also increased from 0.35 to 0.48. These DNA results confirm the results of twin studies indicating strong genetic stability but increasing heritability for g, despite mean changes in brain structure and function from childhood to adolescence.

  4. Stress-induced DNA methylation changes and their heritability in asexual dandelions

    NARCIS (Netherlands)

    Verhoeven, K.J.F.; Jansen, J.J.; Dijk, P.J.; Biere, A.

    2010-01-01

    DNA methylation can cause heritable phenotypic modifications in the absence of changes in DNA sequence. Environmental stresses can trigger methylation changes and this may have evolutionary consequences, even in the absence of sequence variation. However, it remains largely unknown to what extent

  5. Association Between Mortality and Heritability of the Scale of Aging Vigor in Epidemiology

    DEFF Research Database (Denmark)

    Sanders, Jason L; Singh, Jatinder; Minster, Ryan L

    2016-01-01

    OBJECTIVES: To investigate the association between mortality and heritability of a rescaled Fried frailty index, the Scale of Aging Vigor in Epidemiology (SAVE), to determine its value for genetic analyses. DESIGN: Longitudinal, community-based cohort study. SETTING: The Long Life Family Study......, suggesting a genetic component to age-related vigor and frailty and supporting its use for further genetic analyses....

  6. Appetitive operant conditioning in mice: heritability and dissociability of training stages

    NARCIS (Netherlands)

    Malkki, H.A.I.; Donga, L.A.B.; de Groot, S.E.; Battaglia, F.P.; Brussaard, A.B.; Borst, J.G.G.; Elgersma, Y.; Galjart, N.; van der Horst, G.T.; Levelt, C.N.; Pennartz, C.M.A.; Smit, A.B.; Spruijt, B.M.; Verhage, M.; de Zeeuw, C.I.

    2010-01-01

    To study the heritability of different training stages of appetitive operant conditioning, we carried out behavioral screening of 5 standard inbred mouse strains, 28 recombinant-inbred (BxD) mouse lines and their progenitor strains C57BL/6J and DBA/2J. We also computed correlations between

  7. Heritability of performance deficit accumulation during acute sleep deprivation in twins.

    Science.gov (United States)

    Kuna, Samuel T; Maislin, Greg; Pack, Frances M; Staley, Bethany; Hachadoorian, Robert; Coccaro, Emil F; Pack, Allan I

    2012-09-01

    To determine if the large and highly reproducible interindividual differences in rates of performance deficit accumulation during sleep deprivation, as determined by the number of lapses on a sustained reaction time test, the Psychomotor Vigilance Task (PVT), arise from a heritable trait. Prospective, observational cohort study. Academic medical center. There were 59 monozygotic (mean age 29.2 ± 6.8 [SD] yr; 15 male and 44 female pairs) and 41 dizygotic (mean age 26.6 ± 7.6 yr; 15 male and 26 female pairs) same-sex twin pairs with a normal polysomnogram. Thirty-eight hr of monitored, continuous sleep deprivation. Patients performed the 10-min PVT every 2 hr during the sleep deprivation protocol. The primary outcome was change from baseline in square root transformed total lapses (response time ≥ 500 ms) per trial. Patient-specific linear rates of performance deficit accumulation were separated from circadian effects using multiple linear regression. Using the classic approach to assess heritability, the intraclass correlation coefficients for accumulating deficits resulted in a broad sense heritability (h(2)) estimate of 0.834. The mean within-pair and among-pair heritability estimates determined by analysis of variance-based methods was 0.715. When variance components of mixed-effect multilevel models were estimated by maximum likelihood estimation and used to determine the proportions of phenotypic variance explained by genetic and nongenetic factors, 51.1% (standard error = 8.4%, P performance deficit accumulations on PVT during sleep deprivation.

  8. Heritabilities and genetic correlations for honey yield, gentleness, calmness and swarming behaviour in Austrian honey bees

    NARCIS (Netherlands)

    Brascamp, Evert; Willam, Alfons; Boigenzahn, Christian; Bijma, Piter; Veerkamp, Roel F.

    2016-01-01

    Heritabilities and genetic correlations were estimated for honey yield and behavioural traits in Austrian honey bees using data on nearly 15,000 colonies of the bee breeders association Biene Österreich collected between 1995 and 2014. The statistical models used distinguished between the genetic

  9. Heritability of insulin sensitivity and lipid profile depend on BMI : evidence for gene-obesity interaction

    NARCIS (Netherlands)

    Wang, X.; Ding, X.; Su, S.; Spector, T. D.; Mangino, M.; Iliadou, A.; Snieder, H.

    2009-01-01

    Evidence from candidate gene studies suggests that obesity may modify genetic susceptibility to type 2 diabetes and dyslipidaemia. On an aggregate level, gene-obesity interactions are expected to result in different heritability estimates at different obesity levels. However, this hypothesis has

  10. A multicenter study to map genes for Fuchs endothelial corneal dystrophy: baseline characteristics and heritability.

    Science.gov (United States)

    Louttit, Megan D; Kopplin, Laura J; Igo, Robert P; Fondran, Jeremy R; Tagliaferri, Angela; Bardenstein, David; Aldave, Anthony J; Croasdale, Christopher R; Price, Marianne O; Rosenwasser, George O; Lass, Jonathan H; Iyengar, Sudha K

    2012-01-01

    To describe the methods for family and case-control recruitment for a multicenter genetic and associated heritability analyses of Fuchs endothelial corneal dystrophy (FECD). Twenty-nine enrolling sites with 62 trained investigators and coordinators gathered individual and family information, graded the phenotype, and collected blood and/or saliva for genetic analysis on all individuals with and without FECD. The degree of FECD was assessed in a 0 to 6 semiquantitative scale using standardized clinical methods with pathological verification of FECD on at least 1 member of each family. Central corneal thickness was measured by ultrasonic pachymetry. Three hundred twenty-two families with 330 affected sibling pairs with FECD were enrolled and included a total of 650 sibling pairs of all disease grades. Using the entire 7-step FECD grading scale or a dichotomous definition of severe disease, heritability was assessed in families via sib-sib correlations. Both binary indicators of severe disease and semiquantitative measures of disease severity were significantly heritable, with heritability estimates of 30% for severe disease, 37% to 39% for FECD score, and 47% for central corneal thickness. Genetic risk factors have a strong role in the severity of the FECD phenotype and corneal thickness. Genotyping this cohort with high-density genetic markers followed by appropriate statistical analyses should lead to novel loci for disease susceptibility.

  11. Heritability of testosterone levels in 12-year-old twins and its relation to pubertal development

    NARCIS (Netherlands)

    Hoekstra, R.A.; Bartels, M.; Boomsma, D.I.

    2006-01-01

    The aim of this study was to estimate the heritability of variation in testosterone levels in 12-year-old children, and to explore the overlap in genetic and environmental influences on circulating testosterone levels and androgen-dependent pubertal development. Midday salivary testosterone samples

  12. The Heritability of Breast Cancer among women in the Nordic Twin Study of Cancer

    DEFF Research Database (Denmark)

    Möller, Sören; Mucci, Lorelei A; Harris, Jennifer R

    2016-01-01

    and heritability of breast cancer among 21,054 monozygotic and 30,939 dizygotic female twin pairs from the Nordic Twin Study of Cancer, the largest twin study of cancer in the world. We accounted for left-censoring, right-censoring, as well as the competing risk of death. Results From 1943 through 2010, 3...

  13. Variance component and heritability estimates for first and second ...

    African Journals Online (AJOL)

    46 S Afr] Anim Sci 1998 28(1). Variance component and heritability estimates for first and second lactation milk traits in the South African Ayrshire breed. G.J. Hallowell*. Agricultural Research Council, Animal Improvement Institute, Private Bag X2, Irene,. 0062 Republic of South Africa. J. van der Westhuizen and J8. van Wyk.

  14. Thought problems from adolescence to adulthood: measurement invariance and longitudinal heritability

    NARCIS (Netherlands)

    Abdellaoui, A.; de Moor, M.H.M.; Geels, L.M.; van Beek, J.H.D.A.; Willemsen, G.; Boomsma, D.I.

    2012-01-01

    This study investigates the longitudinal heritability in Thought Problems (TP) as measured with ten items from the Adult Self Report (ASR). There were ∼9,000 twins, ∼2,000 siblings and ∼3,000 additional family members who participated in the study and who are registered at the Netherlands Twin

  15. The heritability of testosterone: A study of Dutch adolescent twins and their parents

    NARCIS (Netherlands)

    Harris, J.A.; Boomsma, D.I.; Vernon, P.A.

    1998-01-01

    The heritability of total plasma testosterone' levels, determined from blood samples, was examined in 160 adolescent twin pairs and their parents. Subjects were tested as part of a larger study of cardiovascular risk factors, conducted in Amsterdam. Each subject provided a sample of blood which was

  16. Shared heritability of attention-deficit/hyperactivity disorder and autism spectrum disorder

    NARCIS (Netherlands)

    Rommelse, N.N.J.; Franke, B.; Geurts, H.M.; Hartman, C.A.; Buitelaar, J.K.

    2010-01-01

    Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are both highly heritable neurodevelopmental disorders. Evidence indicates both disorders co-occur with a high frequency, in 20-50% of children with ADHD meeting criteria for ASD and in 30-80% of ASD children meeting

  17. Shared heritability of attention-deficit/hyperactivity disorder and autism spectrum disorder.

    NARCIS (Netherlands)

    Rommelse, N.N.J.; Franke, B.; Geurts, H.M.; Hartman, C.A.; Buitelaar, J.K.

    2010-01-01

    Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are both highly heritable neurodevelopmental disorders. Evidence indicates both disorders co-occur with a high frequency, in 20-50% of children with ADHD meeting criteria for ASD and in 30-80% of ASD children meeting

  18. Shared heritability of attention-deficit/hyperactivity disorder and autism spectrum disorder

    NARCIS (Netherlands)

    Rommelse, Nanda N. J.; Franke, Barbara; Geurts, Hilde M.; Hartman, Catharina A.; Buitelaar, Jan K.

    Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are both highly heritable neurodevelopmental disorders. Evidence indicates both disorders co-occur with a high frequency, in 20-50% of children with ADHD meeting criteria for ASD and in 30-80% of ASD children meeting

  19. The heritability of HbA1c and fasting blood glucose in different measurement settings.

    NARCIS (Netherlands)

    Bik-Simonis, A.M.C.; Eekhoff, E.M.W.; Diamant, M.; Boomsma, D.I.; Heine, R.J.; Dekker, J.M.; Willemsen, G.; van Leeuwen, M.; de Geus, E.J.C.

    2008-01-01

    In an extended twin study we estimated the heritability of fasting HbA1c and blood glucose levels. Blood glucose was assessed in different settings (at home and in the clinic). We tested whether the genetic factors influencing fasting blood glucose levels overlapped with those influencing HbA1c and

  20. Sex differences and heritability of two indices of heart rate dynamics: A twin study.

    NARCIS (Netherlands)

    Snieder, H.; van Doornen, L.J.P.; Boomsma, D.I.; Thayer, J.F.

    2007-01-01

    We investigated whether women show larger heart rate variability (HRV) than men after controlling for a large number of health-related covariates, using two indices of HRV, namely respiratory sinus arrhythmia (RSA) and approximate entropy (ApEn). In a twin design, the heritability of both indices

  1. Heritability for Yield and Glycoalkaloid Content in Potato Breeding under Warm Environments

    Directory of Open Access Journals (Sweden)

    Benavides Manuel A. Gastelo

    2017-11-01

    Full Text Available High temperatures affect potato production in the tropics, putting tuber yield and quality at risk and leading to increased glycoalkaloid concentration the cause of the bitter taste in potatoes and a cause for concern for human health. The International Potato Center (CIP, has developed new heat tolerant clones which are heat tolerant and also resistant to late blight. These clones offer an opportunity to evaluate yield and glycoalkaloid levels after growth under high temperature environments. We evaluated four sets of 16 full-sib families and 20 clones for tuber yield and glycoalkaloid content in order to estimate narrow-sense and broad-sense heritability respectively. We used a randomized complete block design replicated in three locations in Peru; San Ramon, La Molina and Majes At harvest, the number and weight of marketable and nonmarketable tubers were recorded. We analyzed samples of tubers from each clone for glycoalkaloid content using spectrophotometry. Narrow-sense heritability for tuber yield, tuber number and average tuber weight were 0.41, 0.50 and 0.83, respectively, indicating that further gains in breeding for heat tolerance will be possible. Broadsense heritability for glycoalkaloid content was 0.63 and correlation with tuber yield was weak, r=0.33 and R²=0.11 (P<0.01. High heritability and weak correlation will allow us to select clones with high tuber yield and low glycoalkaloid content, to serve as candidate varieties and parents in breeding programs.

  2. The heritability of glaucoma-related traits corneal hysteresis, central corneal thickness, intraocular pressure, and choroidal blood flow pulsatility.

    Science.gov (United States)

    Freeman, Ellen E; Roy-Gagnon, Marie-Hélène; Descovich, Denise; Massé, Hugues; Lesk, Mark R

    2013-01-01

    The purpose of this work was to investigate the heritability of potential glaucoma endophenotypes. We estimated for the first time the heritability of the pulsatility of choroidal blood flow. We also sought to confirm the heritability of corneal hysteresis, central corneal thickness, and 3 ways of measuring intraocular pressure. Measurements were performed on 96 first-degree relatives recruited from Maisonneuve-Rosemont Hospital in Montreal. Corneal hysteresis was determined using the Reichert Ocular Response Analyser. Central corneal thickness was measured with an ultrasound pachymeter. Three measures of intraocular pressure were obtained: Goldmann-correlated and corneal compensated intraocular pressure using the Ocular Response Analyser, and Pascal intraocular pressure using the Pascal Dynamic Contour Tonometer. The pulsatility of choroidal blood velocity and flow were measured in the sub-foveolar choroid using single-point laser Doppler flowmetry (Oculix). We estimated heritability using maximum-likelihood variance components methods implemented in the SOLAR software. No significant heritability was detected for the pulsatility of choroidal blood flow or velocity. The Goldman-correlated, corneal compensated, and Pascal measures of intraocular pressure measures were all significantly heritable at 0.94, 0.79, and 0.53 after age and sex adjustment (p = 0.0003, p = 0.0023, p = 0.0239). Central corneal thickness was significantly heritable at 0.68 (p = 0.0078). Corneal hysteresis was highly heritable but the estimate was at the upper boundary of 1.00 preventing us from giving a precise estimate. Corneal hysteresis, central corneal thickness, and intraocular pressure are all heritable and may be suitable as glaucoma endophenotypes. The pulsatility of choroidal blood flow and blood velocity were not significantly heritable in this sample.

  3. The heritability of glaucoma-related traits corneal hysteresis, central corneal thickness, intraocular pressure, and choroidal blood flow pulsatility.

    Directory of Open Access Journals (Sweden)

    Ellen E Freeman

    Full Text Available PURPOSE: The purpose of this work was to investigate the heritability of potential glaucoma endophenotypes. We estimated for the first time the heritability of the pulsatility of choroidal blood flow. We also sought to confirm the heritability of corneal hysteresis, central corneal thickness, and 3 ways of measuring intraocular pressure. METHODS: Measurements were performed on 96 first-degree relatives recruited from Maisonneuve-Rosemont Hospital in Montreal. Corneal hysteresis was determined using the Reichert Ocular Response Analyser. Central corneal thickness was measured with an ultrasound pachymeter. Three measures of intraocular pressure were obtained: Goldmann-correlated and corneal compensated intraocular pressure using the Ocular Response Analyser, and Pascal intraocular pressure using the Pascal Dynamic Contour Tonometer. The pulsatility of choroidal blood velocity and flow were measured in the sub-foveolar choroid using single-point laser Doppler flowmetry (Oculix. We estimated heritability using maximum-likelihood variance components methods implemented in the SOLAR software. RESULTS: No significant heritability was detected for the pulsatility of choroidal blood flow or velocity. The Goldman-correlated, corneal compensated, and Pascal measures of intraocular pressure measures were all significantly heritable at 0.94, 0.79, and 0.53 after age and sex adjustment (p = 0.0003, p = 0.0023, p = 0.0239. Central corneal thickness was significantly heritable at 0.68 (p = 0.0078. Corneal hysteresis was highly heritable but the estimate was at the upper boundary of 1.00 preventing us from giving a precise estimate. CONCLUSION: Corneal hysteresis, central corneal thickness, and intraocular pressure are all heritable and may be suitable as glaucoma endophenotypes. The pulsatility of choroidal blood flow and blood velocity were not significantly heritable in this sample.

  4. Variability in the heritability of body mass index: a systematic review and meta-regression

    Directory of Open Access Journals (Sweden)

    Cathy E Elks

    2012-02-01

    Full Text Available Evidence for a major role of genetic factors in the determination of body mass index (BMI comes from studies of related individuals. However, heritability estimates for BMI vary widely between studies and the reasons for this remain unclear. While some variation is natural due to differences between populations and settings, study design factors may also explain some of the heterogeneity. We performed a systematic review that identified eighty-eight independent estimates of BMI heritability from twin studies (total 140,525 twins and twenty-seven estimates from family studies (42,968 family members. BMI heritability estimates from twin studies ranged from 0.47 to 0.90 (5th/50th/95th centiles: 0.58/0.75/0.87 and were generally higher than those from family studies (range: 0.24-0.81; 5th/50th/95th centiles: 0.25/0.46/0.68. Meta-regression of the results from twin studies showed that BMI heritability estimates were 0.07 (P=0.001 higher in children than in adults; estimates increased with mean age among childhood studies (+0.012 per year, P=0.002, but decreased with mean age in adult studies (-0.002 per year, P=0.002. Heritability estimates derived from AE twin models (which assume no contribution of shared environment were 0.12 higher than those from ACE models (P<0.001, whilst lower estimates were associated with self-reported versus DNA-based determination of zygosity (-0.04, P=0.02, and with self-reported versus measured BMI (-0.05, P=0.03. Together, the above factors explained 47% of the heterogeneity in estimates of BMI heritability from twin studies. In summary, while some variation in BMI heritability is expected due to population-level differences, study design factors explained nearly half the heterogeneity reported in twin studies. The genetic contribution to BMI appears to vary with age and may have a greater influence during childhood than adult life.

  5. Heritability of the Severity of the Metabolic Syndrome in Whites and Blacks in 3 Large Cohorts.

    Science.gov (United States)

    Musani, Solomon K; Martin, Lisa J; Woo, Jessica G; Olivier, Michael; Gurka, Matthew J; DeBoer, Mark D

    2017-04-01

    Although dichotomous criteria for the metabolic syndrome (MetS) appear heritable, it is not known whether MetS severity as assessed by a continuous MetS score is heritable and whether this varies by race. We used SOLAR (Sequential Oligogenic Linkage Analysis Routines) to evaluate heritability of Adult Treatment Panel-III MetS and a sex- and race-specific MetS severity Z score among 3 large familial cohorts: the JHS (Jackson Heart Study, 1404 black participants), TOPS (Take Off Pounds Sensibly, 1947 white participants), and PLRS (Princeton Lipid Research Study, 229 black and 527 white participants). Heritability estimates were larger for Adult Treatment Panel-III MetS among black compared with white cohort members (JHS 0.48; 95% confidence interval [CI], 0.28-0.68 and PLRS blacks 0.93 [95% CI, 0.73-1.13] versus TOPS 0.21 [95% CI, -0.18 to 0.60] and PLRS whites 0.27 [95% CI, -0.04 to 0.58]). The difference by race narrowed when assessing heritability of the MetS severity score (JHS 0.52 [95% CI, 0.38, 0.66] and PLRS blacks 0.64 [95% CI, 0.13-1.15] versus TOPS 0.23 [95% CI, 0.15-0.31] and PLRS whites 0.60 [95% CI, 0.33-0.87]). There was a high degree of genetic and phenotypic correlation between MetS severity and the individual components of MetS among all groups, although the genetic correlations failed to reach statistical significance among PLRS blacks. Meta-analyses revealed a combined heritability estimate for Adult Treatment Panel-III MetS of 0.24 (95% CI, 0.11-0.36) and for the MetS severity score of 0.50 (95% CI, -0.05 to 0.99). MetS severity seems highly heritable among whites and blacks. This continuous MetS severity Z score may provide a more useful means of characterizing phenotypic MetS in genetic studies by minimizing racial differences. © 2017 American Heart Association, Inc.

  6. 5C.09: HERITABILITY OF RENAL FUNCTION PARAMETERS AND ELECTROLYTE LEVELS IN THE SWISS POPULATION.

    Science.gov (United States)

    Moulin, F; Ponte, B; Pruijm, M; Ackermann, D; Guessous, I; Ehret, G; Bonny, O; Pechere-Bertschi, A; Staessen, J A; Paccaud, F; Mohaupt, M; Martin, P Y; Burnier, M; Vogt, B; Devuyst, O; Bochud, M

    2015-06-01

    Electrolytes handling by the kidney is essential for volume and blood pressure (BP) homeostasis but their distribution and heritability are not well described. We estimated the heritability of kidney function as well as of serum and urine concentrations, renal clearances and fractional excretions for sodium, chloride, potassium, calcium, phosphate and magnesium in a Swiss population-based study. Nuclear families were randomly selected from the general population in Switzerland. We estimated glomerular filtration rate (eGFR) using the CKD-EPI and MDRD equations. Urine was collected separately during day and night over 24-hour. We used the ASSOC program (S.A.G.E.) to estimate narrow sense heritability, including as covariates in the model: age, sex, body mass index and study center. The 1128 participants (537 men and 591 women from 273 families), had mean (sd) age of 47.4(17.5) years, body mass index of 25.0 (4.5) kg/m2 and CKD-EPI of 98.0(18.5) mL/min/1.73 m2. Heritability estimates (SE) were 46.0% (0.06), 48.0% (0.06) and 18.0% (0.06) for CKD-EPI, MDRD and 24-hour creatinine clearance (P < 0.05), respectively. Heritability [SE] of serum concentration was highest for calcium (37%[0.06]) and lowest for sodium (13%[0.05]). Heritabilities [SE] of 24-h urine concentrations and excretions, and of fractional excretions were highest for calcium (51%[0.06], 44%[0.06] and 51%[0.06], respectively) and lowest for potassium (11%[0.05], 10%[0.05] and 16%[0.06], respectively). All results were statistically different from zero.(Figure is included in full-text article.) : Serum and urine levels, urinary excretions and renal handling of electrolytes, particularly calcium, are heritable in the general adult population. Identifying genetic variants involved in electrolytes homeostasis may provide useful insight into the pathophysiological mechanisms involved in common chronic diseases such as kidney diseases, hypertension and diabetes.

  7. DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation

    Directory of Open Access Journals (Sweden)

    Tsutsumi Makiko

    2011-09-01

    Full Text Available Abstract Background Cumulative evidence suggests that DNA secondary structures impact DNA replication, transcription and genomic rearrangements. One of the best studied examples is the recurrent constitutional t(11;22 in humans that is mediated by potentially cruciform-forming sequences at the breakpoints, palindromic AT-rich repeats (PATRRs. We previously demonstrated that polymorphisms of PATRR sequences affect the frequency of de novo t(11;22s in sperm samples from normal healthy males. These studies were designed to determine whether PATRR polymorphisms affect DNA secondary structure, thus leading to variation in translocation frequency. Methods We studied the potential for DNA cruciform formation for several PATRR11 polymorphic alleles using mobility shift analysis in gel electrophoresis as well as by direct visualization of the DNA by atomic force microscopy. The structural data for various alleles were compared with the frequency of de novo t(11;22s the allele produced. Results The data indicate that the propensity for DNA cruciform structure of each polymorphic allele correlates with the frequency of de novo t(11;22s produced (r = 0.77, P = 0.01. Conclusions Although indirect, our results strongly suggest that the PATRR adopts unstable cruciform structures during spermatogenesis that act as translocation hotspots in humans.

  8. Sexual variation in heritability and genetic correlations of morphological traits in house sparrow (Passer domesticus).

    Science.gov (United States)

    Jensen, H; Saether, B E; Ringsby, T H; Tufto, J; Griffith, S C; Ellegren, H

    2003-11-01

    Estimates of genetic components are important for our understanding of how individual characteristics are transferred between generations. We show that the level of heritability varies between 0.12 and 0.68 in six morphological traits in house sparrows (Passer domesticus L.) in northern Norway. Positive and negative genetic correlations were present among traits, suggesting evolutionary constraints on the evolution of some of these characters. A sexual difference in the amount of heritable genetic variation was found in tarsus length, wing length, bill depth and body condition index, with generally higher heritability in females. In addition, the structure of the genetic variance-covariance matrix for the traits differed between the sexes. Genetic correlations between males and females for the morphological traits were however large and not significantly different from one, indicating that sex-specific responses to selection will be influenced by intersexual differences in selection differentials. Despite this, some traits had heritability above 0.1 in females, even after conditioning on the additive genetic covariance between sexes and the additive genetic variances in males. Moreover, a meta-analysis indicated that higher heritability in females than in males may be common in birds. Thus, this indicates sexual differences in the genetic architecture of birds. Consequently, as in house sparrows, the evolutionary responses to selection will often be larger in females than males. Hence, our results suggest that sex-specific additive genetic variances and covariances, although ignored in most studies, should be included when making predictions of evolutionary changes from standard quantitative genetic models.

  9. Heritability of Performance Deficit Accumulation During Acute Sleep Deprivation in Twins

    Science.gov (United States)

    Kuna, Samuel T.; Maislin, Greg; Pack, Frances M.; Staley, Bethany; Hachadoorian, Robert; Coccaro, Emil F.; Pack, Allan I.

    2012-01-01

    Study Objectives: To determine if the large and highly reproducible interindividual differences in rates of performance deficit accumulation during sleep deprivation, as determined by the number of lapses on a sustained reaction time test, the Psychomotor Vigilance Task (PVT), arise from a heritable trait. Design: Prospective, observational cohort study. Setting: Academic medical center. Participants: There were 59 monozygotic (mean age 29.2 ± 6.8 [SD] yr; 15 male and 44 female pairs) and 41 dizygotic (mean age 26.6 ± 7.6 yr; 15 male and 26 female pairs) same-sex twin pairs with a normal polysomnogram. Interventions: Thirty-eight hr of monitored, continuous sleep deprivation. Measurements and Results: Patients performed the 10-min PVT every 2 hr during the sleep deprivation protocol. The primary outcome was change from baseline in square root transformed total lapses (response time ≥ 500 ms) per trial. Patient-specific linear rates of performance deficit accumulation were separated from circadian effects using multiple linear regression. Using the classic approach to assess heritability, the intraclass correlation coefficients for accumulating deficits resulted in a broad sense heritability (h2) estimate of 0.834. The mean within-pair and among-pair heritability estimates determined by analysis of variance-based methods was 0.715. When variance components of mixed-effect multilevel models were estimated by maximum likelihood estimation and used to determine the proportions of phenotypic variance explained by genetic and nongenetic factors, 51.1% (standard error = 8.4%, P sleep deprivation. Citation: Kuna ST; Maislin G; Pack FM; Staley B; Hachadoorian R; Coccaro EF; Pack AI. Heritability of performance deficit accumulation during acute sleep deprivation in twins. SLEEP 2012;35(9):1223-1233. PMID:22942500

  10. Trans-local ties, local ties and psychological well-being among rural-to-urban migrants in Shanghai.

    Science.gov (United States)

    Jin, Lei; Wen, Ming; Fan, Jessie X; Wang, Guixin

    2012-07-01

    During the past three decades, an estimated 200 million rural residents have moved to urban centers in China. They are "sojourners" in the cities and maintain close ties with their home communities, which we term trans-local ties. This paper examines the relationship between migrants' social ties and their mental health, and contrasts the trans-local ties with migrants' ties in the receiving communities, which are termed local ties. We expect that for the migrants, trans-local ties foster better mental health not only through providing emotional support but also through generating favorable social comparisons; whereas local ties may furnish important social support, but may also produce negative social comparisons. We use data collected in Shanghai to test our expectations. We compare the migrants to a sample of Shanghai natives to assess patterns of relationship between social ties and mental health that are unique to the migrants. We find that for the migrants, more numerous trans-local ties are associated with better mental health, whereas the number of local ties is not a significant predictor. This pattern is not observed among the Shanghai natives. Moreover, for migrants, trans-local ties foster a favorable evaluation of their status in Shanghai and buffer their perception of discrimination; in contrast, more numerous local ties tend to be associated with a more negative perception of social status. The findings highlight an often-overlooked pathway between social ties and health outcomes, namely, through influencing social comparison and perceived social status. This study also suggests that in addition to reducing institutional and personal discrimination, facilitating close bonds between the migrants and their home communities may be a productive way to foster their well-being, in the context of contemporary urban China. Copyright © 2012 Elsevier Ltd. All rights reserved.

  11. Thr translocation of C-14-assimilates in Eragrostis curvula: an ...

    African Journals Online (AJOL)

    In intact plants C-14-assimilates were translocated from the treated leaf on the primary tiller to young leaves on that tiller, to secondary tillers, and also to the roots. Plants defoliated after labeling revealed movement of materials from the storage organs to all the new leaves. Here these materials were used as a respiratory ...

  12. Introduction: translocal development, development corridors and development chains.

    NARCIS (Netherlands)

    Zoomers, E.B.; Westen, A.C.M. van

    2011-01-01

    This paper offers an introduction to this Special Issue of International Development Planning Review. It uses the concepts of translocal development, development corridors and development chains to secure a better grasp of what development means in the context of globalisation and how ‘local

  13. The human minisatellite consensus at breakpoints of oncogene translocations

    Energy Technology Data Exchange (ETDEWEB)

    Krowczynska, A.; Krontiris, T.G. (New England Medical Center Hospitals, Boston, MA (United States) Tufts Univ. School of Medicine, Boston, MA (United States)); Rudders, R.A. (New England Medical Center Hospitals, Boston, MA (United States))

    1990-03-11

    A reexamination of human minisatellite (hypervariable) regions following the cloning and sequencing of the new minisatellite, VTR1. 1, revealed that many of these structures possessed a strongly conserved copy of the chi-like octamer, GC(A/T)GG(A/T)GG. In oncogene translocations apparently created by aberrant VDJ recombinase activity, this VTR octamer was often found within a few bases of the breakpoint. Three bcl2 rearrangements which occurred within 2 bp of one another were located precisely adjacent to this consensus; it defined the 5{prime} border of that oncogene's major breakpoint cluster. Several c-myc translocations also occurred within 2 bp of this sequence. While the appearance of a chi-like element in polymorphic minisatellite sequences is consistent with a role promoting either recombination or replication slippage, the existence of such elements at sites of somatic translocations suggests chi function in site-specific recombination, perhaps as a subsidiary recognition signal in immunoglobulin gene rearrangement. The authors discuss the implications of these observations for mechanisms by which oncogene translocations and minisatellite sequences are generated.

  14. Passage Times for Polymer Translocation Pulled through a Narrow Pore

    CERN Document Server

    Panja, Debabrata

    2007-01-01

    We study the passage times of a translocating polymer of length $N$ in three dimensions, while it is pulled through a narrow pore with a constant force $F$ applied to one end of the polymer. At small to moderate forces, satisfying the condition $FN^{\

  15. 3D view of chromosomes, DNA damage, and translocations.

    Science.gov (United States)

    Schwartz, Michal; Hakim, Ofir

    2014-04-01

    The cell nucleus is a busy and organized organelle. In this megalopolis made of billions of nucleotides, protein factors find their target loci to exert nuclear functions such as transcription and replication. Remarkably, despite the lack of internal membrane barrier, the interlinked and tightly regulated nuclear processes occur in spatially organized fashion. These processes can lead to double-strand breaks (DSBs) that compromise the integrity of the genome. Moreover, in some cells like lymphocytes, DNA damage is also targeted within the context of immunoglobulin gene recombination. If not repaired correctly, DSBs can cause chromosomal rearrangements, including translocations which are etiological in numerous tumors. Therefore, the chromosomal locations of DSBs, as well as their spatial positioning, are important contributors to formation of chromosomal translocations at specific genomic loci. To obtain a mechanistic understanding of chromosomal translocations these parameters should be accounted for in a global and integrative fashion. In this review we will discuss recent findings addressing how genome architecture, DNA damage, and repair contribute to the genesis of chromosomal translocations. Copyright © 2014 Elsevier Ltd. All rights reserved.

  16. Evaluation of cadmium bioaccumulation and translocation by Hopea ...

    African Journals Online (AJOL)

    parisa

    2012-04-10

    Apr 10, 2012 ... the metal concentration ratio of plant roots to soil), translocation factor (TF, the metal concentration ratio of plant shoots to .... pH (1:2.5 soil to water). 4.62 ..... with high levels of CdSo4 (50 µM) in hydroponic culture. Cadmium ...

  17. A de novo X;13 translocation with abnormal phenotype.

    OpenAIRE

    Hodgson, S V; Barber, J C; Dowie, A; Dubowitz, V

    1986-01-01

    We describe a female infant who presented with hypotonia and developmental delay. Her karyotype showed a de novo balanced translocation between the X chromosome and chromosome 13, with breakpoints at Xq13 and 13p11. The normal X was late replicating in all cells examined. The cause of this patient's abnormal phenotype is discussed.

  18. Three cases of mosaicism for balanced reciprocal translocations

    NARCIS (Netherlands)

    Leegte, B; Sikkema-Raddatz, B; Hordijk, R; Bouman, K; van Essen, T; Castedo, S; de Jong, B

    1998-01-01

    Mosaicism for a balanced reciprocal translocation (BRTM) is rare. As far as we know only 26 cases of BRTM, demonstrated in lymphocyte cultures, have been described, five of which had an abnormal phenotype. Prenatally three confirmed cases with a normal phenotypic outcome have been described. Here we

  19. Black Rhino Translocations within Africa | Knight | Africa Insight

    African Journals Online (AJOL)

    The responsibility for the conservation of the critically endangered Black Rhinoceros, Diceros bicornis, lies within Africa. This species is managed at the subspecies level and we document nine international translocation case studies involving South Africa since 1962 aimed at re-establishing or boosting populations ...

  20. Chromosomal Translocation in a Child with SLI and Apraxia.

    Science.gov (United States)

    Weistuch, Lucille; Schiff-Myers, Naomi B.

    1996-01-01

    This case study of a 5-year-old boy diagnosed with a specific expressive language impairment with verbal apraxia reports on chromosomal, neurological, speech/language, cognitive, and play evaluations. Evaluation found a chromosomal translocation and a severe expressive speech-language deficit but good nonverbal cognitive and communicative skills.…

  1. Bladder calculus resulting from an intravesical translocation of ...

    African Journals Online (AJOL)

    Although perforation of the uterus by an intrauterine contraceptive device (IUCD) is commonly encountered, intravesical translocation and secondary calculus formation is a very rare complication.We report a case of a 60-year old multiparous woman in whom an intrauterine contraceptive Copper-T device inserted 12 years ...

  2. Translocation of radioactive paraquat in some veld grasses | TD ...

    African Journals Online (AJOL)

    In two pot experiments radioactive paraquat was applied to certain important veld grasses (Experiment I-Aristida junciformis, Themeda triandra, Elyonuris argenteus, Andropogon filifolius, Eragrostis curvula; Experiment II-A. junciformis, E. argenteus) to determine the extent of translocation at a young stage of growth with ...

  3. Centrifugally driven microfluidic disc for detection of chromosomal translocations

    DEFF Research Database (Denmark)

    Brøgger, Anna Line; Kwasny, Dorota; Bosco, Filippo G.

    2012-01-01

    and prognosis of patients. In this work we demonstrate a novel, centrifugally-driven microfluidic system for controlled manipulation of oligonucleotides and subsequent detection of chromosomal translocations. The device is fabricated in the form of a disc with capillary burst microvalves employed to control...

  4. Single Molecule Fluorescence Measurements of Ribosomal Translocation Dynamics

    Science.gov (United States)

    Chen, Chunlai; Stevens, Benjamin; Kaur, Jaskarin; Cabral, Diana; Liu, Hanqing; Wang, Yuhong; Zhang, Haibo; Rosenblum, Gabriel; Smilansky, Zeev; Goldman, Yale E.; Cooperman, Barry S.

    2011-01-01

    We employ single-molecule fluorescence resonance energy transfer (smFRET) to study structural dynamics over the first two elongation cycles of protein synthesis, using ribosomes containing either Cy3-labeled ribosomal protein L11 and A- or P-site Cy5-labeled tRNA or Cy3 and Cy5 labeled tRNAs. Pre-translocation (PRE) complexes demonstrate fluctuations between classical and hybrid forms, with concerted motions of tRNAs away from L11 and from each other when classical complex converts to hybrid complex. EF-G·GTP binding to both hybrid and classical PRE complexes halts these fluctuations prior to catalyzing translocation to form the post-translocation (POST) complex. EF-G dependent translocation from the classical PRE complex proceeds via transient formation of a short-lived hybrid intermediate. A-site binding of either EF-G to the PRE complex or of aminoacyl-tRNA·EF-Tu ternary complex to the POST complex markedly suppresses ribosome conformational lability. PMID:21549313

  5. Translocation of neuronal nitric oxide synthase to the plasma membrane by ATP is mediated by P2X and P2Y receptors

    Directory of Open Access Journals (Sweden)

    Ohnishi Takayuki

    2009-07-01

    Full Text Available Abstract Background The translocation of neuronal nitric oxide synthase (nNOS from the cytosol to the membrane is functionally coupled to the activation of N-methyl-D-aspartate (NMDA receptors at synapses. Whereas there is abundant evidence indicating that ATP and nitric oxide are involved in nociceptive transmission, whether nNOS is activated by ATP remains unknown. We recently established a fluorescence imaging system for examining nNOS translocation in PC12 cells expressing a yellow fluorescence protein-tagged nNOS N-terminal mutant, nNOSNT-YFP, and examined the effect of ATP on nNOS translocation using the system. Results The translocation of nNOS was induced by ATP in the presence of NMDA and forskolin, an adenylate cyclase activator. The purinergic P2X receptor agonist 2-MeSATP and the P2Y agonist UTP significantly enhanced nNOS translocation; and simultaneous stimulation with 2-MeSATP and UTP exhibited the same concentration-response curve for the translocation as obtained with ATP. ATP, 2-MeSATP, and UTP increased the intracellular Ca2+ concentration ([Ca2+]i in PC12 cells. Conversely, whereas the P2X receptor antagonist PPADS and the P2Y antagonist reactive blue-2 partially inhibited increases in the translocation of nNOS and [Ca2+]i by ATP, the non-selective P2 receptor antagonist suramin completely blocked them. In addition, the increase in the nNOS translocation by ATP was blocked by NMDA receptor antagonists and inhibitors of protein kinase A, protein kinase C, and Src kinase. Consistent with the expression of P2X and P2Y receptors in the spinal cord, ATP and UTP increased the [Ca2+]i in primary cultured spinal neurons. ATP potentiated and prolonged the [Ca2+]i increase produced by NMDA in the dorsal horn of the spinal cord. Furthermore, the selective P2X3/P2X2/3 antagonist A-317491 inhibited nNOS activation assessed by NO formation in spinal slices prepared from neuropathic pain model mice. Conclusion ATP is involved in n

  6. Identification and analysis of proton-translocating pyrophosphatases in the methanogenic archaeon Methanosarcina mazei

    Science.gov (United States)

    Bäumer, Sebastian; Lentes, Sabine; Gottschalk, Gerhard; Deppenmeier, Uwe

    2002-01-01

    Analysis of genome sequence data from the methanogenic archaeon Methanosarcina mazei Gö1 revealed the existence of two open reading frames encoding proton-translocating pyrophosphatases (PPases). These open reading frames are linked by a 750-bp intergenic region containing TC-rich stretches and are transcribed in opposite directions. The corresponding polypeptides are referred to as Mvp1 and Mvp2 and consist of 671 and 676 amino acids, respectively. Both enzymes represent extremely hydrophobic, integral membrane proteins with 15 predicted transmembrane segments and an overall amino acid sequence similarity of 50.1%. Multiple sequence alignments revealed that Mvp1 is closely related to eukaryotic PPases, whereas Mvp2 shows highest homologies to bacterial PPases. Northern blot experiments with RNA from methanol-grown cells harvested in the mid-log growth phase indicated that only Mvp2 was produced under these conditions. Analysis of washed membranes showed that Mvp2 had a specific activity of 0.34 U mg (protein)–1. Proton translocation experiments with inverted membrane vesicles prepared from methanol-grown cells showed that hydrolysis of 1 mol of pyrophosphate was coupled to the translocation of about 1 mol of protons across the cytoplasmic membrane. Appropriate conditions for mvp1 expression could not be determined yet. The pyrophosphatases of M. mazei Gö1 represent the first examples of this enzyme class in methanogenic archaea and may be part of their energy-conserving system. Abbreviations: DCCD, N,N′-dicyclohexylcarbodiimide; PPase, inorganic pyrophosphatase; PPi, inorganic pyrophosphate; Δp, proton motive force. PMID:15803653

  7. Optimality of the Münch mechanism for translocation of sugars in plants

    DEFF Research Database (Denmark)

    Jensen, Kåre Hartvig; Lee, J.; Bohr, Tomas

    2011-01-01

    Plants require effective vascular systems for the transport of water and dissolved molecules between distal regions. Their survival depends on the ability to transport sugars from the leaves where they are produced to sites of active growth; a flow driven, according to the Münch hypothesis......, by osmotic gradients generated by differences in sugar concentration. The length scales over which sugars are produced (Lleaf) and over which they are transported (Lstem), as well as the radius r of the cylindrical phloem cells through which the transport takes place, vary among species over several orders...... of magnitude; a major unsettled question is whether the Münch transport mechanism is effective over this wide range of sizes. Optimization of translocation speed predicts a scaling relation between radius r and the characteristic lengths as r ∼ (Lleaf Lstem)1/3. Direct measurements using novel in vivo...

  8. Atlas of alien and translocated indigenous aquatic animals in southern Africa

    CSIR Research Space (South Africa)

    De Moor, IJ

    1988-01-01

    Full Text Available This report serves as an introduction to the problem of alien and translocated aquatic animals in southern Africa is given followed by checklists of the different species which have been introduced into or translocated within the subcontinent...

  9. Microbial Translocation in HIV Infection is Associated with Dyslipidemia, Insulin Resistance, and Risk of Myocardial Infarction

    DEFF Research Database (Denmark)

    Pedersen, Karin Kaereby; Pedersen, Maria; Trøseid, Marius

    2013-01-01

    Microbial translocation has been suggested to be a driver of immune activation and inflammation. We hypothesized that microbial translocation may be related to dyslipidemia, insulin resistance, and the risk of coronary heart disease in HIV-infected individuals.......Microbial translocation has been suggested to be a driver of immune activation and inflammation. We hypothesized that microbial translocation may be related to dyslipidemia, insulin resistance, and the risk of coronary heart disease in HIV-infected individuals....

  10. Meiotic behaviour and spermatogenesis in male mice heterozygous for translocation types also occurring in man

    NARCIS (Netherlands)

    Nijhoff, J.H.

    1981-01-01

    In this thesis a start was made with meiotic observations of mouse translocation types - a Robertsonian translocation and a translocation between a metacentric and an acrocentric chromosome - which also occur in man. It is generally accepted that, when no chromosomal rearrangements are involved, man

  11. Protein translocation across the endoplasmic reticulum membrane in cold-adapted organisms

    NARCIS (Netherlands)

    Römisch, Karin; Collie, Nicola; Soto, Nelyn; Logue, James; Lindsay, Margaret; Scheper, Wiep; Cheng, Chi-Hing C.

    2003-01-01

    Secretory proteins enter the secretory pathway by translocation across the membrane of the endoplasmic reticulum (ER) via a channel formed primarily by the Sec61 protein. Protein translocation is highly temperature dependent in mesophilic organisms. We asked whether the protein translocation

  12. Translocation as a conservation tool for Agassiz's desert tortoises: Survivorship, reproduction, and movements

    Science.gov (United States)

    K. E. Nussear; C. R. Tracy; P. A. Medica; D. S. Wilson; R. W. Marlow; P. S. Corn

    2012-01-01

    We translocated 120 Agassiz's desert tortoises to 5 sites in Nevada and Utah to evaluate the effects of translocation on tortoise survivorship, reproduction, and habitat use. Translocation sites included several elevations, and extended to sites with vegetation assemblages not typically associated with desert tortoises in order to explore the possibility of moving...

  13. Carnivore translocations and conservation: insights from population models and field data for fishers (Martes pennanti)

    Science.gov (United States)

    Jeffrey C. Lewis; Roger A. Powell; William J. Zielinski

    2012-01-01

    Translocations are frequently used to restore extirpated carnivore populations. Understanding the factors that influence translocation success is important because carnivore translocations can be time consuming, expensive, and controversial. Using population viability software, we modeled reintroductions of the fisher, a candidate for endangered or threatened status in...

  14. Accumulation of numerical and structural chromosome imbalances in spermatozoa from reciprocal translocation carriers.

    Science.gov (United States)

    Godo, A; Blanco, J; Vidal, F; Anton, E

    2013-03-01

    Is there a relationship between the occurrence of specific segregation modes and the production of additional numerical abnormalities in spermatozoa from reciprocal translocation carriers? The production of aneuploid and diploid spermatozoa tends to be associated with an unbalanced segregation outcome of the rearranged chromosomes. Carriers of reciprocal translocations have an increased genetic reproductive risk as a consequence of producing higher numbers of unbalanced spermatozoa. These imbalances can originate during the segregation of the rearranged chromosomes and also from the occurrence of interchromosomal effects (ICEs). Usually, the outcome of both events is studied independently by means of sperm fluorescent in situ hybridization (FISH). We designed a sequential FISH protocol based on two successive hybridization rounds to study the segregation outcome of the rearranged chromosomes and the presence of additional numerical abnormalities in the same sperm nuclei. The study was performed between February 2010 and February 2012. Sperm samples from eight reciprocal translocation carriers were processed for FISH analysis. Numerical abnormalities for chromosomes X, Y, 13, 18 and 21 were evaluated in the first hybridization round. The aneuploid and diploid nuclei were relocated and analysed for the segregation outcome of the rearranged chromosomes in the second hybridization round. In every carrier, another population of non-selected spermatozoa was also analysed with the aim of defining the general segregation outcome of each reorganization event. Overall, the selected population of aneuploid and diploid spermatozoa showed significant increased frequencies of unbalanced segregation modes of the rearranged chromosomes (3:1, 4:0 and 'other') when compared with the non-selected population of spermatozoa. A P-value of chromosomes. Information about the content of additional chromosomes would have been useful in order to broaden the number of aneuploid spermatozoa

  15. The Heritability of Prostate Cancer in the Nordic Twin Study of Cancer

    DEFF Research Database (Denmark)

    Hjelmborg, Jacob B; Scheike, Thomas; Holst, Klaus

    2014-01-01

    risk and liability. Results: The cumulative risk of prostate cancer was similar to that of the background population. The cumulative risk for twins whose co-twin was diagnosed with prostate cancer was greater for MZ than for DZ twins across all ages. Among concordantly affected pairs, the time between......Background: Prostate cancer is thought to be the most heritable cancer, although little is known about how this genetic contribution varies across age. Methods: To address this question, we undertook the world's largest prospective study in the Nordic Twin Study of Cancer cohort, including 18...... diagnoses was significantly shorter for MZ than DZ pairs (median 3.8 versus 6.5 years, respectively). Genetic differences contributed substantially to variation in both the risk and the liability (heritability=58% (95% CI 52%-63%) of developing prostate cancer. The relative contribution of genetic factors...

  16. The Tapestry of Life: Lateral Transfers of Heritable Elements - Scientific Meeting

    Energy Technology Data Exchange (ETDEWEB)

    Claire M. Fraser, Ph.D.

    2005-12-31

    The Sackler Colloquium The Tapestry of Life: Lateral Transfers of Heritable Elements was held on December 12-13, 2005. What Darwin saw as a tree of life descending in a linear fashion, is now more accurately seen as a tapestry of life, an anastomosing network, with important lateral transfers of heritable elements among parallel lines of descent These transfers range in complexity from small insertion sequences, to whole genes, gene islands, and portions of whole genomes which may be combined in symbiogenesis. The colloquium brought together researchers, empirical and theoretical, working at all levels on genomics, comparative genomics, and metagenomics to identify common and differentiating features of lateral gene transfer and to examine their implications for science and for human concerns.

  17. Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism.

    Science.gov (United States)

    Jamain, Stephane; Radyushkin, Konstantin; Hammerschmidt, Kurt; Granon, Sylvie; Boretius, Susann; Varoqueaux, Frederique; Ramanantsoa, Nelina; Gallego, Jorge; Ronnenberg, Anja; Winter, Dorina; Frahm, Jens; Fischer, Julia; Bourgeron, Thomas; Ehrenreich, Hannelore; Brose, Nils

    2008-02-05

    Autism spectrum conditions (ASCs) are heritable conditions characterized by impaired reciprocal social interactions, deficits in language acquisition, and repetitive and restricted behaviors and interests. In addition to more complex genetic susceptibilities, even mutation of a single gene can lead to ASC. Several such monogenic heritable ASC forms are caused by loss-of-function mutations in genes encoding regulators of synapse function in neurons, including NLGN4. We report that mice with a loss-of-function mutation in the murine NLGN4 ortholog Nlgn4, which encodes the synaptic cell adhesion protein Neuroligin-4, exhibit highly selective deficits in reciprocal social interactions and communication that are reminiscent of ASCs in humans. Our findings indicate that a protein network that regulates the maturation and function of synapses in the brain is at the core of a major ASC susceptibility pathway, and establish Neuroligin-4-deficient mice as genetic models for the exploration of the complex neurobiological disorders in ASCs.

  18. Probability and heritability estimates on primary osteoarthritis of the hip leading to total hip arthroplasty

    DEFF Research Database (Denmark)

    Skousgaard, Søren Glud; Hjelmborg, Jacob; Skytthe, Axel

    2015-01-01

    INTRODUCTION: Primary hip osteoarthritis, radiographic as well as symptomatic, is highly associated with increasing age in both genders. However, little is known about the mechanisms behind this, in particular if this increase is caused by genetic factors. This study examined the risk......-associated genetic influence onwards from 60 years of age. CONCLUSION: The cumulative incidence in primary hip osteoarthritis leading to total hip arthroplasty increases in particular after the age of 50 years in both genders. Family factors of genes and shared environment are highly significant and account for 68...... and heritability of primary osteoarthritis of the hip leading to a total hip arthroplasty, and if this heritability increased with increasing age. METHODS: In a nationwide population-based follow-up study 118,788 twins from the Danish Twin Register and 90,007 individuals from the Danish Hip Arthroplasty Register...

  19. Heritability and environmental effects for self-reported periods with stuttering: A twin study from Denmark

    DEFF Research Database (Denmark)

    Fagnani, Corrado; Fibiger, Steen; Skytthe, Axel

    2011-01-01

    Genetic influence for stuttering was studied based on adult self-reporting. Using nation-wide questionnaire answers from 33,317 Danish twins, a univariate biometric analysis based on the liability threshold model was performed in order to estimate the heritability of stuttering. The self......-reported incidences for stuttering were from less than 4% for females to near 9% for males. Both probandwise concordance rate and tetrachoric correlation were substantially higher for monozygotic compared to dizygotic pairs, indicating substantial genetic influence on individual liability. Univariate biometric...... analyses showed that additive genetic and unique environmental factors best explained the observed concordance patterns. Heritability estimates for males/females were 0.84/0.81. Moderate unique environmental effects were also found. Genetic influence for stuttering was studied based on adult self...

  20. Twin study of heritability of eating bread in Danish and Finnish men and women

    DEFF Research Database (Denmark)

    Hasselbalch, Ann Louise; Silventoinen, Karri; Keskitalo, Kaisu

    2010-01-01

    Bread is an elementary part of the western diet, and especially rye bread is regarded as an important source of fibre. We investigated the heritability of eating bread in terms of choice of white and rye bread and use-frequency of bread in female and male twins in Denmark and Finland. The study...... cohorts included 575 Danish (age range 18-67 years) and 2009 Finnish (age range 22-27 years) adult twin pairs. Self-reported frequency of eating bread was obtained by food frequency questionnaires. Univariate models based on linear structural equations for twin data were used to estimate the relative...... magnitude of the additive genetic, shared environmental and individual environmental effects on bread eating frequency and choice of bread. The analysis of bread intake frequency demonstrated moderate heritability ranging from 37-40% in the Finnish cohort and 23-26% in the Danish cohort. The genetic...

  1. On the translocation of botulinum and tetanus neurotoxins across the membrane of acidic intracellular compartments.

    Science.gov (United States)

    Pirazzini, Marco; Azarnia Tehran, Domenico; Leka, Oneda; Zanetti, Giulia; Rossetto, Ornella; Montecucco, Cesare

    2016-03-01

    Tetanus and botulinum neurotoxins are produced by anaerobic bacteria of the genus Clostridium and are the most poisonous toxins known, with 50% mouse lethal dose comprised within the range of 0.1-few nanograms per Kg, depending on the individual toxin. Botulinum neurotoxins are similarly toxic to humans and can therefore be considered for potential use in bioterrorism. At the same time, their neurospecificity and reversibility of action make them excellent therapeutics for a growing and heterogeneous number of human diseases that are characterized by a hyperactivity of peripheral nerve terminals. The complete crystallographic structure is available for some botulinum toxins, and reveals that they consist of four domains functionally related to the four steps of their mechanism of neuron intoxication: 1) binding to specific receptors of the presynaptic membrane; 2) internalization via endocytic vesicles; 3) translocation across the membrane of endocytic vesicles into the neuronal cytosol; 4) catalytic activity of the enzymatic moiety directed towards the SNARE proteins. Despite the many advances in understanding the structure-mechanism relationship of tetanus and botulinum neurotoxins, the molecular events involved in the translocation step have been only partially elucidated. Here we will review recent advances that have provided relevant insights on the process and discuss possible models that can be experimentally tested. This article is part of a Special Issue entitled: Pore-Forming Toxins edited by Mauro Dalla Serra and Franco Gambale. Copyright © 2015. Published by Elsevier B.V.

  2. Lessons from model organisms: phenotypic robustness and missing heritability in complex disease.

    Directory of Open Access Journals (Sweden)

    Christine Queitsch

    Full Text Available Genetically tractable model organisms from phages to mice have taught us invaluable lessons about fundamental biological processes and disease-causing mutations. Owing to technological and computational advances, human biology and the causes of human diseases have become accessible as never before. Progress in identifying genetic determinants for human diseases has been most remarkable for Mendelian traits. In contrast, identifying genetic determinants for complex diseases such as diabetes, cancer, and cardiovascular and neurological diseases has remained challenging, despite the fact that these diseases cluster in families. Hundreds of variants associated with complex diseases have been found in genome-wide association studies (GWAS, yet most of these variants explain only a modest amount of the observed heritability, a phenomenon known as "missing heritability." The missing heritability has been attributed to many factors, mainly inadequacies in genotyping and phenotyping. We argue that lessons learned about complex traits in model organisms offer an alternative explanation for missing heritability in humans. In diverse model organisms, phenotypic robustness differs among individuals, and those with decreased robustness show increased penetrance of mutations and express previously cryptic genetic variation. We propose that phenotypic robustness also differs among humans and that individuals with lower robustness will be more responsive to genetic and environmental perturbations and hence susceptible to disease. Phenotypic robustness is a quantitative trait that can be accurately measured in model organisms, but not as yet in humans. We propose feasible approaches to measure robustness in large human populations, proof-of-principle experiments for robustness markers in model organisms, and a new GWAS design that takes differences in robustness into account.

  3. Variability, heritability and genetic association in vegetable amaranth (Amaranthus tricolorL.)

    OpenAIRE

    Umakanta Sarker; Md Tofazzal Islam; Md. Golam Rabbani; Shinya Oba

    2015-01-01

    Forty three vegetable amaranth (Amaranthus tricolor L.) genotypes selected from different eco-geographic regions of Bangladesh were evaluated during 3 years (2012-2014) for genetic variability, heritability and genetic association among mineral elements and quality and agronomic traits in randomized complete block design (RCBD) with five replications. The analysis showed that vegetable amaranth is a rich source of K, Ca, Mg, proteins and dietary fibre with average values among the 43 genotype...

  4. Field heritability of a plant adaptation to fire in heterogeneous landscapes.

    Science.gov (United States)

    Castellanos, M C; González-Martínez, S C; Pausas, J G

    2015-11-01

    The strong association observed between fire regimes and variation in plant adaptations to fire suggests a rapid response to fire as an agent of selection. It also suggests that fire-related traits are heritable, a precondition for evolutionary change. One example is serotiny, the accumulation of seeds in unopened fruits or cones until the next fire, an important strategy for plant population persistence in fire-prone ecosystems. Here, we evaluate the potential of this trait to respond to natural selection in its natural setting. For this, we use a SNP marker approach to estimate genetic variance and heritability of serotiny directly in the field for two Mediterranean pine species. Study populations were large and heterogeneous in climatic conditions and fire regime. We first estimated the realized relatedness among trees from genotypes, and then partitioned the phenotypic variance in serotiny using Bayesian animal models that incorporated environmental predictors. As expected, field heritability was smaller (around 0.10 for both species) than previous estimates under common garden conditions (0.20). An estimate on a subset of stands with more homogeneous environmental conditions was not different from that in the complete set of stands, suggesting that our models correctly captured the environmental variation at the spatial scale of the study. Our results highlight the importance of measuring quantitative genetic parameters in natural populations, where environmental heterogeneity is a critical aspect. The heritability of serotiny, although not high, combined with high phenotypic variance within populations, confirms the potential of this fire-related trait for evolutionary change in the wild. © 2015 John Wiley & Sons Ltd.

  5. Heritability and prevalence of selected osteochondrosis lesions in yearling Thoroughbred horses.

    Science.gov (United States)

    Russell, J; Matika, O; Russell, T; Reardon, R J M

    2017-05-01

    Osteochondrosis is considered multifactorial in origin, with factors such as nutrition, conformation, body size, trauma and genetics thought to contribute to its pathogenesis. Few studies have investigated the effects of genetic variability of osteochondrosis in Thoroughbreds. To describe the prevalence and genetic variability of a subset of osteochondrosis lesions in a group of Thoroughbred yearlings. Retrospective cohort study. Radiographs of 1962 Thoroughbred yearlings were retrieved from clinical records obtained between 2005 and 2013. Pedigree information was obtained from the Australian Stud Book. Osteochondrosis lesions were documented in selected joints and estimates of heritability were obtained by fitting linear mixed models in ASREML software. The overall prevalence of osteochondrosis was 23%. Osteochondrosis was identified in 10% of stifle joints, 6% of hock joints and 8% of fetlock joints. The heritability estimates ranged from 0 to 0.21. The largest estimates were 0.10, 0.14, 0.16 and 0.21 for lesions of the distal intermediate ridge of the tibia, dorso-proximal proximal phalanx (P1), any stifle osteochondrosis, and lesions of the lateral trochlear ridge of the distal femur, respectively. Although calculated heritability estimates had high standard errors, meta-analyses combining the present results with published estimates were significant at 0.10, 0.17, 0.15 and 0.20 for stifle, tarsal, fetlock and these joints combined, respectively. In addition, there was a permanent environment attributable to the dam effect. Inclusion criteria were based on radiographic findings in specific joints at a specific age range in Thoroughbreds. The present results indicate that only a proportion of osteochondrosis in Thoroughbreds is heritable. The permanent environment effects of the dam were observed to have effects on some categories of osteochondrosis. © 2016 The Authors. Equine Veterinary Journal published by John Wiley & Sons Ltd on behalf of EVJ Ltd.

  6. Smaller, scale-free gene networks increase quantitative trait heritability and result in faster population recovery.

    Directory of Open Access Journals (Sweden)

    Jacob W Malcom

    Full Text Available One of the goals of biology is to bridge levels of organization. Recent technological advances are enabling us to span from genetic sequence to traits, and then from traits to ecological dynamics. The quantitative genetics parameter heritability describes how quickly a trait can evolve, and in turn describes how quickly a population can recover from an environmental change. Here I propose that we can link the details of the genetic architecture of a quantitative trait--i.e., the number of underlying genes and their relationships in a network--to population recovery rates by way of heritability. I test this hypothesis using a set of agent-based models in which individuals possess one of two network topologies or a linear genotype-phenotype map, 16-256 genes underlying the trait, and a variety of mutation and recombination rates and degrees of environmental change. I find that the network architectures introduce extensive directional epistasis that systematically hides and reveals additive genetic variance and affects heritability: network size, topology, and recombination explain 81% of the variance in average heritability in a stable environment. Network size and topology, the width of the fitness function, pre-change additive variance, and certain interactions account for ∼75% of the variance in population recovery times after a sudden environmental change. These results suggest that not only the amount of additive variance, but importantly the number of loci across which it is distributed, is important in regulating the rate at which a trait can evolve and populations can recover. Taken in conjunction with previous research focused on differences in degree of network connectivity, these results provide a set of theoretical expectations and testable hypotheses for biologists working to span levels of organization from the genotype to the phenotype, and from the phenotype to the environment.

  7. The Heritability of Cluster B Personality Disorders Assessed both by Personal Interview and Questionnaire

    Science.gov (United States)

    Torgersen, Svenn; Myers, John; Reichborn-Kjennerud, Ted; Røysamb, Espen; Kubarych, Thomas S.; Kendler, Kenneth S.

    2013-01-01

    Whereas the heritability of common personality traits has been firmly established, the results of the few published studies on personality disorders (PDs) are highly divergent, with some studies finding high heredity and others very low. A problem with assessing personality disorders by means of interview is errors connected with interviewer bias. A way to overcome the problem is to use self-report questionnaires in addition to interviews. This study used both interview and questionnaire for assessing DSM-IV Cluster B personality disorders: antisocial personality disorder (APD), borderline (BPD), narcissistic (NPD), and histrionic (HPD). We assessed close to 2,800 twins from the Norwegian Institute of Public Health Twin Panel using a self-report questionnaire and, a few years later, the Structured Interview for DSM-IV Personality (SIDP-IV). Items from the self-report questionnaire that best predicted the PDs captured by the interview were then selected. Measurement models combining questionnaire and interview information were applied and were fitted using Mx. Whereas the heritability of Cluster B PDs assessed by interview was around .30, and around .40–.50 when assessed by self-report questionnaire, the heritability of the convergent latent factor, including information from both interview and self-report questionnaire was .69 for APD, .67 for BPD, .71 for NPD, and .63 for HPD. As is usually found for personality, the effect of shared-in families (familial) environment was zero. In conclusion, when both interview and self-report questionnaire are taken into account, the heritability of Cluster B PD appears to be in the upper range of previous findings for mental disorders. PMID:23281671

  8. Heritability and fitness correlates of personality in the Ache, a natural-fertility population in Paraguay.

    Science.gov (United States)

    Bailey, Drew H; Walker, Robert S; Blomquist, Gregory E; Hill, Kim R; Hurtado, A Magdalena; Geary, David C

    2013-01-01

    The current study assessed the heritability of personality in a traditional natural-fertility population, the Ache of eastern Paraguay. Self-reports (n = 110) and other-reports (n = 66) on the commonly used Big Five Personality Inventory (i.e., extraversion, agreeableness, conscientiousness, neuroticism, openness) were collected. Self-reports did not support the Five Factor Model developed with Western samples, and did not correlate with other-reports for three of the five measured personality factors. Heritability was assessed using factors that were consistent across self- and other-reports and factors assessed using other-reports that showed reliabilities similar to those found in Western samples. Analyses of these items in combination with a multi-generation pedigree (n = 2,132) revealed heritability estimates similar to those found in most Western samples, although we were not able to separately estimate the influence of the common environment on these traits. We also assessed relations between personality and reproductive success (RS), allowing for a test of several mechanisms that might be maintaining heritable variation in personality. Phenotypic analyses, based largely on other-reports, revealed that extraverted men had higher RS than other men, but no other dimensions of personality predicted RS in either sex. Mothers with more agreeable children had more children, and parents mated assortatively on personality. Of the evolutionary processes proposed to maintain variation in personality, assortative mating, selective neutrality, and temporal variation in selection pressures received the most support. However, the current study does not rule out other processes affecting the evolution and maintenance of individual differences in human personality.

  9. DNA Repair Decline During Mouse Spermiogenesis Results in the Accumulation of Heritable DNA Damage

    Energy Technology Data Exchange (ETDEWEB)

    Marchetti, Francesco; Marchetti, Francesco; Wyrobek, Andrew J.

    2007-12-01

    The post-meiotic phase of mouse spermatogenesis (spermiogenesis) is very sensitive to the genomic effects of environmental mutagens because as male germ cells form mature sperm they progressively lose the ability to repair DNA damage. We hypothesized that repeated exposures to mutagens during this repair-deficient phase result in the accumulation of heritable genomic damage in mouse sperm that leads to chromosomal aberrations in zygotes after fertilization. We used a combination of single or fractionated exposures to diepoxybutane (DEB), a component of tobacco smoke, to investigate how differential DNA repair efficiencies during the three weeks of spermiogenesis affected the accumulation of DEB-induced heritable damage in early spermatids (21-15 days before fertilization, dbf), late spermatids (14-8 dbf) and sperm (7-1 dbf). Analysis of chromosomal aberrations in zygotic metaphases using PAINT/DAPI showed that late spermatids and sperm are unable to repair DEB-induced DNA damage as demonstrated by significant increases (P<0.001) in the frequencies of zygotes with chromosomal aberrations. Comparisons between single and fractionated exposures suggested that the DNA repair-deficient window during late spermiogenesis may be less than two weeks in the mouse and that during this repair-deficient window there is accumulation of DNA damage in sperm. Finally, the dose-response study in sperm indicated a linear response for both single and repeated exposures. These findings show that the differential DNA repair capacity of post-meioitic male germ cells has a major impact on the risk of paternally transmitted heritable damage and suggest that chronic exposures that may occur in the weeks prior to fertilization because of occupational or lifestyle factors (i.e, smoking) can lead to an accumulation of genetic damage in sperm and result in heritable chromosomal aberrations of paternal origin.

  10. DNA repair decline during mouse spermiogenesis results in the accumulation of heritable DNA damage

    Energy Technology Data Exchange (ETDEWEB)

    Marchetti, Francesco; Marchetti, Francesco; Wryobek, Andrew J

    2008-02-21

    The post-meiotic phase of mouse spermatogenesis (spermiogenesis) is very sensitive to the genomic effects of environmental mutagens because as male germ cells form mature sperm they progressively lose the ability to repair DNA damage. We hypothesized that repeated exposures to mutagens during this repair-deficient phase result in the accumulation of heritable genomic damage in mouse sperm that leads to chromosomal aberrations in zygotes after fertilization. We used a combination of single or fractionated exposures to diepoxybutane (DEB), a component of tobacco smoke, to investigate how differential DNA repair efficiencies during the three weeks of spermiogenesis affected the accumulation of DEB-induced heritable damage in early spermatids (21-15 days before fertilization, dbf), late spermatids (14-8 dbf) and sperm (7- 1 dbf). Analysis of chromosomalaberrations in zygotic metaphases using PAINT/DAPI showed that late spermatids and sperm are unable to repair DEB-induced DNA damage as demonstrated by significant increases (P<0.001) in the frequencies of zygotes with chromosomal aberrations. Comparisons between single and fractionated exposures suggested that the DNA repair-deficient window during late spermiogenesis may be less than two weeks in the mouse and that during this repair-deficient window there is accumulation of DNA damage in sperm. Finally, the dose-response study in sperm indicated a linear response for both single and repeated exposures. These findings show that the differential DNA repair capacity of post-meioitic male germ cells has a major impact on the risk of paternally transmitted heritable damage and suggest that chronic exposures that may occur in the weeks prior to fertilization because of occupational or lifestyle factors (i.e, smoking) can lead to an accumulation of genetic damage in sperm and result in heritable chromosomal aberrations of paternal origin.

  11. Heritability and Fitness Correlates of Personality in the Ache, a Natural-Fertility Population in Paraguay

    Science.gov (United States)

    Bailey, Drew H.; Walker, Robert S.; Blomquist, Gregory E.; Hill, Kim R.; Hurtado, A. Magdalena; Geary, David C.

    2013-01-01

    The current study assessed the heritability of personality in a traditional natural-fertility population, the Ache of eastern Paraguay. Self-reports (n = 110) and other-reports (n = 66) on the commonly used Big Five Personality Inventory (i.e., extraversion, agreeableness, conscientiousness, neuroticism, openness) were collected. Self-reports did not support the Five Factor Model developed with Western samples, and did not correlate with other-reports for three of the five measured personality factors. Heritability was assessed using factors that were consistent across self- and other-reports and factors assessed using other-reports that showed reliabilities similar to those found in Western samples. Analyses of these items in combination with a multi-generation pedigree (n = 2,132) revealed heritability estimates similar to those found in most Western samples, although we were not able to separately estimate the influence of the common environment on these traits. We also assessed relations between personality and reproductive success (RS), allowing for a test of several mechanisms that might be maintaining heritable variation in personality. Phenotypic analyses, based largely on other-reports, revealed that extraverted men had higher RS than other men, but no other dimensions of personality predicted RS in either sex. Mothers with more agreeable children had more children, and parents mated assortatively on personality. Of the evolutionary processes proposed to maintain variation in personality, assortative mating, selective neutrality, and temporal variation in selection pressures received the most support. However, the current study does not rule out other processes affecting the evolution and maintenance of individual differences in human personality. PMID:23527163

  12. Heritability of human cranial dimensions: comparing the evolvability of different cranial regions.

    Science.gov (United States)

    Martínez-Abadías, Neus; Esparza, Mireia; Sjøvold, Torstein; González-José, Rolando; Santos, Mauro; Hernández, Miquel

    2009-01-01

    Quantitative craniometrical traits have been successfully incorporated into population genetic methods to provide insight into human population structure. However, little is known about the degree of genetic and non-genetic influences on the phenotypic expression of functionally based traits. Many studies have assessed the heritability of craniofacial traits, but complex patterns of correlation among traits have been disregarded. This is a pitfall as the human skull is strongly integrated. Here we reconsider the evolutionary potential of craniometric traits by assessing their heritability values as well as their patterns of genetic and phenotypic correlation using a large pedigree-structured skull series from Hallstatt (Austria). The sample includes 355 complete adult skulls that have been analysed using 3D geometric morphometric techniques. Heritability estimates for 58 cranial linear distances were computed using maximum likelihood methods. These distances were assigned to the main functional and developmental regions of the skull. Results showed that the human skull has substantial amounts of genetic variation, and a t-test showed that there are no statistically significant differences among the heritabilities of facial, neurocranial and basal dimensions. However, skull evolvability is limited by complex patterns of genetic correlation. Phenotypic and genetic patterns of correlation are consistent but do not support traditional hypotheses of integration of the human shape, showing that the classification between brachy- and dolicephalic skulls is not grounded on the genetic level. Here we support previous findings in the mouse cranium and provide empirical evidence that covariation between the maximum widths of the main developmental regions of the skull is the dominant factor of integration in the human skull.

  13. Lambing Ease is Heritable but not Correlated to Litter Size in Danish Meat Sheep Breeds

    DEFF Research Database (Denmark)

    Sørensen, Anders Christian; Valasek, P; Pedersen, Jørn

    The aim of this study was to estimate genetic parameters of lambing ease (LE) and litter size (LS) in four common Danish meat sheep breeds. Data from 1990 to 2006 were analysed. A bivariate animal model was used for estimation of genetic parameters. Lambing ease showed a low heritability, both...... the LE and LS was found, which means that selection to improve one trait should not affect the other trait. Lambing ease should therefore be included in the selection criterion....

  14. Heritability of physical activity traits in Brazilian families: the Baependi Heart Study

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    Horimoto Andréa RVR

    2011-11-01

    Full Text Available Abstract Background It is commonly recognized that physical activity has familial aggregation; however, the genetic influences on physical activity phenotypes are not well characterized. This study aimed to (1 estimate the heritability of physical activity traits in Brazilian families; and (2 investigate whether genetic and environmental variance components contribute differently to the expression of these phenotypes in males and females. Methods The sample that constitutes the Baependi Heart Study is comprised of 1,693 individuals in 95 Brazilian families. The phenotypes were self-reported in a questionnaire based on the WHO-MONICA instrument. Variance component approaches, implemented in the SOLAR (Sequential Oligogenic Linkage Analysis Routines computer package, were applied to estimate the heritability and to evaluate the heterogeneity of variance components by gender on the studied phenotypes. Results The heritability estimates were intermediate (35% for weekly physical activity among non-sedentary subjects (weekly PA_NS, and low (9-14% for sedentarism, weekly physical activity (weekly PA, and level of daily physical activity (daily PA. Significant evidence for heterogeneity in variance components by gender was observed for the sedentarism and weekly PA phenotypes. No significant gender differences in genetic or environmental variance components were observed for the weekly PA_NS trait. The daily PA phenotype was predominantly influenced by environmental factors, with larger effects in males than in females. Conclusions Heritability estimates for physical activity phenotypes in this sample of the Brazilian population were significant in both males and females, and varied from low to intermediate magnitude. Significant evidence for heterogeneity in variance components by gender was observed. These data add to the knowledge of the physical activity traits in the Brazilian study population, and are concordant with the notion of significant

  15. Heritability of Boldness and Hypoxia Avoidance in European Seabass, Dicentrarchus labrax

    OpenAIRE

    Horri, Khaled; Allal, François; Vergnet, Alain; Benhaim, David; Vandeputte, Marc; Chatain, Béatrice

    2016-01-01

    To understand the genetic basis of coping style in European seabass, fish from a full factorial mating (10 females x 50 males) were reared in common garden and individually tagged. Individuals coping style was characterized through behavior tests at four different ages, categorizing fish into proactive or reactive: a hypoxia avoidance test (at 255 days post hatching, dph) and 3 risk-taking tests (at 276, 286 and 304 dph). We observed significant heritability of the coping style, higher for th...

  16. Heritable alteration of DNA methylation induced by whole-chromosome aneuploidy in wheat.

    Science.gov (United States)

    Gao, Lihong; Diarso, Moussa; Zhang, Ai; Zhang, Huakun; Dong, Yuzhu; Liu, Lixia; Lv, Zhenling; Liu, Bao

    2016-01-01

    Aneuploidy causes changes in gene expression and phenotypes in all organisms studied. A previous study in the model plant Arabidopsis thaliana showed that aneuploidy-generated phenotypic changes can be inherited to euploid progenies and implicated an epigenetic underpinning of the heritable variations. Based on an analysis by amplified fragment length polymorphism and methylation-sensitive amplified fragment length polymorphism markers, we found that although genetic changes at the nucleotide sequence level were negligible, extensive changes in cytosine DNA methylation patterns occurred in all studied homeologous group 1 whole-chromosome aneuploid lines of common wheat (Triticum aestivum), with monosomic 1A showing the greatest amount of methylation changes. The changed methylation patterns were inherited by euploid progenies derived from the aneuploid parents. The aneuploidy-induced DNA methylation alterations and their heritability were verified at selected loci by bisulfite sequencing. Our data have provided empirical evidence supporting earlier suggestions that heritability of aneuploidy-generated, but aneuploidy-independent, phenotypic variations may have an epigenetic basis. That at least one type of aneuploidy - monosomic 1A - was able to cause significant epigenetic divergence of the aneuploid plants and their euploid progenies also lends support to recent suggestions that aneuploidy may have played an important and protracted role in polyploid genome evolution. © 2015 The Authors. New Phytologist © 2015 New Phytologist Trust.

  17. GAMETOPHYTIC SELECTION IN RAPHANUS RAPHANISTRUM: A TEST FOR HERITABLE VARIATION IN POLLEN COMPETITIVE ABILITY.

    Science.gov (United States)

    Snow, Allison A; Mazer, Susan J

    1988-09-01

    Competition among many microgametophytes for a limited number of ovules can lead to both nonrandom fertilization by pollen genotypes and selection for greater sporophytic vigor. The evolutionary implications of this process depend on the extent of heritable genetic variation for pollen competitive ability. Using flower color in wild radish as a genetic marker, we demonstrate differences among pollen donors in competitive ability. Significant differences were found in four out of five pairs of donors. For three pairs of donors, competitive differences were observed in certain maternal plants but not others. To test for heritability of pollen performance, we conducted a selection experiment. We manipulated the intensity of pollen competition for two generations and then tested for differences in the performance of pollen from two selected lines. Competitive ability of pollen derived from each line was assessed relative to a standard unrelated pollen donor, using pollen mixtures on six wild maternal plants. The intensity of previous pollen competition had no overall effect on the proportion of seeds sired by each selected line. In two maternal plants, pollen from intense previous competition was actually inferior, contrary to expectation. Thus, we found no evidence for heritable variation in this trait. Other factors, such as male-female interactions, may influence the outcome of pollen competition. Prevailing theory on the genetic basis of effects of pollen competition on subsequent generations is not supported by our results. Improved protocols for future experiments are discussed. © 1988 The Society for the Study of Evolution.

  18. Diversity and heritability of the maize rhizosphere microbiome under field conditions

    Science.gov (United States)

    Peiffer, Jason A.; Spor, Aymé; Koren, Omry; Jin, Zhao; Tringe, Susannah Green; Dangl, Jeffery L.; Buckler, Edward S.; Ley, Ruth E.

    2013-01-01

    The rhizosphere is a critical interface supporting the exchange of resources between plants and their associated soil environment. Rhizosphere microbial diversity is influenced by the physical and chemical properties of the rhizosphere, some of which are determined by the genetics of the host plant. However, within a plant species, the impact of genetic variation on the composition of the microbiota is poorly understood. Here, we characterized the rhizosphere bacterial diversity of 27 modern maize inbreds possessing exceptional genetic diversity grown under field conditions. Randomized and replicated plots of the inbreds were planted in five field environments in three states, each with unique soils and management conditions. Using pyrosequencing of bacterial 16S rRNA genes, we observed substantial variation in bacterial richness, diversity, and relative abundances of taxa between bulk soil and the maize rhizosphere, as well as between fields. The rhizospheres from maize inbreds exhibited both a small but significant proportion of heritable variation in total bacterial diversity across fields, and substantially more heritable variation between replicates of the inbreds within each field. The results of this study should facilitate expanded studies to identify robust heritable plant–microbe interactions at the level of individual polymorphisms by genome wide association, so that plant-microbiome interactions can ultimately be incorporated into plant breeding. PMID:23576752

  19. Estimates of Genotype x Environment Interactions and Heritability of Black Point in Durum Wheat

    Directory of Open Access Journals (Sweden)

    Hasan Hasan KILIÇ

    2009-12-01

    Full Text Available Experiments were carried out in four different locations with 14 durum wheat genotypes in two successful seasons of 1999- 2000 and 2000-2001. Black point disease of genotypes was evaluated by interactions of genotypes and environment as well as heritability (h2. It was found that black point disease affected differently in different locations and growing seasons. This indicates that the genotypes have different adaptation ability for traits studied in different locations. Heritability rate that variance analyzes accepted means squares calculated was found as phenotypic variance rate of genotypic variance was found as 49%. Variance of genotype x location x year was bigger than other variance components. Genotype x year variance was bigger than genotype x location variance too. The heritability of black point disease was founded moderate. In addition to one of factors on the black point disease genotype also environment x genotype interactions were found effective. According to evaluation of black point disease, the highest value was obtained from ‘Sorgül’ (2.7%, ‘Dicle-74’ (2.56% and ‘Gidara-II’ (2.32% varieties; the least value was obtained from ‘Balcali-2000’ variety (0.64%. Alternaria spp., Phoma sp, Fusarium spp., Helminthosporium spp., and Stemphylium spp., fungi were isolated from the grain affected by black point diseases.

  20. Heritability of the Effective Connectivity in the Resting-State Default Mode Network.

    Science.gov (United States)

    Xu, Junhai; Yin, Xuntao; Ge, Haitao; Han, Yan; Pang, Zengchang; Liu, Baolin; Liu, Shuwei; Friston, Karl

    2016-11-23

    The default mode network (DMN) is thought to reflect endogenous neural activity, which is considered as one of the most intriguing phenomena in cognitive neuroscience. Previous studies have found that key regions within the DMN are highly interconnected. Here, we characterized the genetic influences on causal or directed information flow within the DMN during the resting state. In this study, we recruited 46 pairs of twins and collected fMRI imaging data using a 3.0 T scanner. Dynamic causal modeling was conducted for each participant, and a structural equation model was used to calculate the heritability of DMN in terms of its effective connectivity. Model comparison favored a full-connected model. Structural equal modeling was used to estimate the additive genetics (A), common environment (C) and unique environment (E) contributions to variance for the DMN effective connectivity. The ACE model was preferred in the comparison of structural equation models. Heritability of DMN effective connectivity was 0.54, suggesting that the genetic made a greater contribution to the effective connectivity within DMN. Establishing the heritability of default-mode effective connectivity endorses the use of resting-state networks as endophenotypes or intermediate phenotypes in the search for the genetic basis of psychiatric or neurological illnesses. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  1. Heritable genome editing with CRISPR/Cas9 in the silkworm, Bombyx mori.

    Directory of Open Access Journals (Sweden)

    Wei Wei

    Full Text Available We report the establishment of an efficient and heritable gene mutagenesis method in the silkworm Bombyx mori using modified type II clustered regularly interspaced short palindromic repeats (CRISPR with an associated protein (Cas9 system. Using four loci Bm-ok, BmKMO, BmTH, and Bmtan as candidates, we proved that genome alterations at specific sites could be induced by direct microinjection of specific guide RNA and Cas9-mRNA into silkworm embryos. Mutation frequencies of 16.7-35.0% were observed in the injected generation, and DNA fragments deletions were also noted. Bm-ok mosaic mutants were used to test for mutant heritability due to the easily determined translucent epidermal phenotype of Bm-ok-disrupted cells. Two crossing strategies were used. In the first, injected Bm-ok moths were crossed with wild-type moths, and a 28.6% frequency of germline mutation transmission was observed. In the second strategy, two Bm-ok mosaic mutant moths were crossed with each other, and 93.6% of the offsprings appeared mutations in both alleles of Bm-ok gene (compound heterozygous. In summary, the CRISPR/Cas9 system can act as a highly specific and heritable gene-editing tool in Bombyx mori.

  2. Polygenic risk score and heritability estimates reveals a genetic relationship between ASD and OCD.

    Science.gov (United States)

    Guo, W; Samuels, J F; Wang, Y; Cao, H; Ritter, M; Nestadt, P S; Krasnow, J; Greenberg, B D; Fyer, A J; McCracken, J T; Geller, D A; Murphy, D L; Knowles, J A; Grados, M A; Riddle, M A; Rasmussen, S A; McLaughlin, N C; Nurmi, E L; Askland, K D; Cullen, B A; Piacentini, J; Pauls, D L; Bienvenu, O J; Stewart, S E; Goes, F S; Maher, B; Pulver, A E; Valle, D; Mattheisen, M; Qian, J; Nestadt, G; Shugart, Y Y

    2017-07-01

    Obsessive-compulsive disorder (OCD) and Autism spectrum disorder (ASD) are both highly heritable neurodevelopmental disorders that conceivably share genetic risk factors. However, the underlying genetic determinants remain largely unknown. In this work, the authors describe a combined genome-wide association study (GWAS) of ASD and OCD. The OCD dataset includes 2998 individuals in nuclear families. The ASD dataset includes 6898 individuals in case-parents trios. GWAS summary statistics were examined for potential enrichment of functional variants associated with gene expression levels in brain regions. The top ranked SNP is rs4785741 (chromosome 16) with P value=6.9×10-7 in our re-analysis. Polygenic risk score analyses were conducted to investigate the genetic relationship within and across the two disorders. These analyses identified a significant polygenic component of ASD, predicting 0.11% of the phenotypic variance in an independent OCD data set. In addition, we examined the genomic architecture of ASD and OCD by estimating heritability on different chromosomes and different allele frequencies, analyzing genome-wide common variant data by using the Genome-wide Complex Trait Analysis (GCTA) program. The estimated global heritability of OCD is 0.427 (se=0.093) and 0.174 (se=0.053) for ASD in these imputed data. Published by Elsevier B.V.

  3. Heritability of body weight and resistance to ammonia in the Pacific white shrimp Litopenaeus vannamei juveniles

    Science.gov (United States)

    Li, Wenjia; Lu, Xia; Luan, Sheng; Luo, Kun; Sui, Juan; Kong, Jie

    2016-09-01

    Ammonia, toxic to aquaculture organisms, represents a potential problem in aquaculture systems, and the situation is exacerbated in closed and intensive shrimp farming operations, expecially for Litopenaeus vannamei. Assessing the potential for the genetic improvement of resistance to ammonia in L. vannamei requires knowledge of the genetic parameters of this trait. The heritability of resistance to ammonia was estimated using two descriptors in the present study: the survival time (ST) and the survival status at half lethal time (SS50) for each individual under high ammonia challenge. The heritability of ST and SS50 were low (0.154 4±0.044 6 and 0.147 5±0.040 0, respectively), but they were both significantly different from zero ( P0.05), suggesting that ST and SS50 could be used as suitable indicators for resistance to ammonia. There were also positive phenotypic and genetic correlation between resistance to ammonia and body weight, which means that resistance to ammonia can be enhanced by the improvement of husbandry practices that increase the body weight. The results from the present study suggest that the selection for higher body weight does not have any negative consequences for resistance to ammonia. In addition to quantitative genetics, tools from molecular genetics can be applied to selective breeding programs to improve the efficiency of selection for traits with low heritability.

  4. Heritability of Problem Drinking and the Genetic Overlap with Personality in a General Population Sample

    Science.gov (United States)

    de Moor, Marleen H. M.; Vink, Jacqueline M.; van Beek, Jenny H. D. A.; Geels, Lot M.; Bartels, Meike; de Geus, Eco J. C.; Willemsen, Gonneke; Boomsma, Dorret I.

    2011-01-01

    This study examined the heritability of problem drinking and investigated the phenotypic and genetic relationships between problem drinking and personality. In a sample of 5,870 twins and siblings and 4,420 additional family members from the Netherlands Twin Register. Data on problem drinking (assessed with the AUDIT and CAGE; 12 items) and personality [NEO Five-Factor Inventory (FFI); 60 items] were collected in 2009/2010 by surveys. Confirmatory factor analysis on the AUDIT and CAGE items showed that the items clustered on two separate but highly correlated (r = 0.74) underlying factors. A higher-order factor was extracted that reflected those aspects of problem drinking that are common to the AUDIT and CAGE, which showed a heritability of 40%. The correlations between problem drinking and the five dimensions of personality were small but significant, ranging from 0.06 for Extraversion to −0.12 for Conscientiousness. All personality dimensions (with broad-sense heritabilities between 32 and 55%, and some evidence for non-additive genetic influences) were genetically correlated with problem drinking. The genetic correlations were small to modest (between |0.12| and |0.41|). Future studies with longitudinal data and DNA polymorphisms are needed to determine the biological mechanisms that underlie the genetic link between problem drinking and personality. PMID:22303371

  5. Heritability of audiometric shape parameters and familial aggregation of presbycusis in an elderly Flemish population.

    Science.gov (United States)

    Demeester, Kelly; van Wieringen, Astrid; Hendrickx, Jan-jaap; Topsakal, Vedat; Huyghe, Jeroen; Fransen, Erik; Van Laer, Lut; Van Camp, Guy; Van de Heyning, Paul

    2010-06-14

    This study describes the heritability of audiometric shape parameters and the familial aggregation of different types of presbycusis in a healthy, otologically screened population between 50 and 75 years old. About 342 siblings of 64 families (average family-size: 5.3) were recruited through population registries. Audiometric shape was mathematically quantified by objective parameters developed to measure size, slope, concavity, percentage of frequency-dependent and frequency-independent hearing loss and Bulge Depth. The heritability of each parameter was calculated using a variance components model. Logistic regression models were used to estimate the odds ratios (ORs). Estimates of sibling recurrence risk ratios (lambda(s)) are also provided. Heritability estimates were generally higher compared to previous studies. ORs and lambda(s) for the parameters Total Hearing Loss (size), Uniform Hearing Loss (percentage of frequency-dependent hearing loss) and Bulge Depth suggest a higher heredity for severe types of presbycusis compared to moderate or mild types. Our results suggest that the separation of the parameter 'Total Hearing Loss' into the two parameters 'Uniform Hearing Loss' and 'Non-uniform Hearing Loss' could lead to the discovery of different genetic subtypes of presbycusis. The parameter 'Bulge Depth', instead of 'Concavity', seemed to be an important parameter for classifying subjects into 'susceptible' or 'resistant' to societal or intensive environmental exposure. 2010 Elsevier B.V. All rights reserved.

  6. Lineage Tracking for Probing Heritable Phenotypes at Single-Cell Resolution

    Science.gov (United States)

    Cottinet, Denis; Condamine, Florence; Bremond, Nicolas; Griffiths, Andrew D.; Rainey, Paul B.; de Visser, J. Arjan G. M.; Baudry, Jean; Bibette, Jérôme

    2016-01-01

    Determining the phenotype and genotype of single cells is central to understand microbial evolution. DNA sequencing technologies allow the detection of mutants at high resolution, but similar approaches for phenotypic analyses are still lacking. We show that a drop-based millifluidic system enables the detection of heritable phenotypic changes in evolving bacterial populations. At time intervals, cells were sampled and individually compartmentalized in 100 nL drops. Growth through 15 generations was monitored using a fluorescent protein reporter. Amplification of heritable changes–via growth–over multiple generations yields phenotypically distinct clusters reflecting variation relevant for evolution. To demonstrate the utility of this approach, we follow the evolution of Escherichia coli populations during 30 days of starvation. Phenotypic diversity was observed to rapidly increase upon starvation with the emergence of heritable phenotypes. Mutations corresponding to each phenotypic class were identified by DNA sequencing. This scalable lineage-tracking technology opens the door to large-scale phenotyping methods with special utility for microbiology and microbial population biology. PMID:27077662

  7. Stress-induced DNA methylation changes and their heritability in asexual dandelions.

    Science.gov (United States)

    Verhoeven, Koen J F; Jansen, Jeroen J; van Dijk, Peter J; Biere, Arjen

    2010-03-01

    *DNA methylation can cause heritable phenotypic modifications in the absence of changes in DNA sequence. Environmental stresses can trigger methylation changes and this may have evolutionary consequences, even in the absence of sequence variation. However, it remains largely unknown to what extent environmentally induced methylation changes are transmitted to offspring, and whether observed methylation variation is truly independent or a downstream consequence of genetic variation between individuals. *Genetically identical apomictic dandelion (Taraxacum officinale) plants were exposed to different ecological stresses, and apomictic offspring were raised in a common unstressed environment. We used methylation-sensitive amplified fragment length polymorphism markers to screen genome-wide methylation alterations triggered by stress treatments and to assess the heritability of induced changes. *Various stresses, most notably chemical induction of herbivore and pathogen defenses, triggered considerable methylation variation throughout the genome. Many modifications were faithfully transmitted to offspring. Stresses caused some epigenetic divergence between treatment and controls, but also increased epigenetic variation among plants within treatments. *These results show the following. First, stress-induced methylation changes are common and are mostly heritable. Second, sequence-independent, autonomous methylation variation is readily generated. This highlights the potential of epigenetic inheritance to play an independent role in evolutionary processes, which is superimposed on the system of genetic inheritance.

  8. Dietary patterns and heritability of food choice in a UK female twin cohort.

    Science.gov (United States)

    Teucher, Birgit; Skinner, Jane; Skidmore, Paula M L; Cassidy, Aedin; Fairweather-Tait, Susan J; Hooper, Lee; Roe, Mark A; Foxall, Robert; Oyston, Sarah L; Cherkas, Lynn F; Perks, Ursula C; Spector, Tim D; MacGregor, Alex J

    2007-10-01

    To examine the contribution of genetic factors to food choice, we determined dietary patterns from food frequency questionnaires in 3262 UK female twins aged 18 to 79 years. Five distinct dietary patterns were identified (fruit and vegetable, high alcohol, traditional English, dieting, low meat) that accounted for 22% of the total variance. These patterns are similar to those found in other singleton Western populations, and were related to body mass index, smoking status, physical activity and deprivation scores. Older subjects had higher scores on the fruit and vegetable and traditional English patterns, while lower social deprivation was associated with higher scores for fruit and vegetable, and lower scores for traditional English patterns. All 5 patterns were heritable, with estimates ranging from 41% to 48%. Among individual dietary components, a strongly heritable component was identified for garlic (46%), coffee (41%), fruit and vegetable sources (49%), and red meat (39%). Our results indicate that genetic factors have an important influence in determining food choice and dietary habits in Western populations. The relatively high heritability of specific dietary components implicates taste perception as a possible target for future genetic studies.

  9. Single nucleotide polymorphisms (SNPs are inherited from parents and they measure heritable events

    Directory of Open Access Journals (Sweden)

    Hemminki Kari

    2005-01-01

    Full Text Available Abstract Single nucleotide polymorphisms (SNPs are extensively used in case-control studies of practically all cancer types. They are used for the identification of inherited cancer susceptibility genes and those that may interact with environmental factors. However, being genetic markers, they are applicable only on heritable conditions, which is often a neglected fact. Based on the data in the nationwide Swedish Family-Cancer Database, we review familial risks for all main cancers and discuss the evidence for a heritable component in cancer. The available evidence is not conclusive but it is consistent in pointing to a minor heritable etiology in cancer, which will hamper the success of SNP-based association studies. Empirical familial risks should be used as guidance for the planning of SNP studies. We provide calculations for the assessment of familial risks for assumed allele frequencies and gene effects (odds ratios for different modes of inheritance. Based on these data, we discuss the gene effects that could account for the unexplained proportion of familial breast and lung cancer. As a conclusion, we are concerned about the indiscriminate use of a genetic tool to cancers, which are mainly environmental in origin. We consider the likelihood of a successful application of SNPs in gene-environment studies small, unless established environmental risk factors are tested on proven candidate genes.

  10. Heritability and whole genome linkage of pulse pressure in Chinese twin pairs

    DEFF Research Database (Denmark)

    Jiang, Wengjie; Zhang, Dongfeng; Pang, Zengchang

    2012-01-01

    with a heritability estimate of 0.45. Genome-wide non-parametric linkage analysis identified three significant linkage peaks on chromosome 11 (lod score 4.06 at 30.5 cM), chromosome 12 (lod score 3.97 at 100.7 cM), and chromosome 18 (lod score 4.01 at 70.7 cM) with the last two peaks closely overlapping with linkage...... to the phenotype. We report results on our heritability and linkage study conducted on the Chinese population in mainland China where cardiovascular and cerebrovascular diseases are becoming the leading cause of death. A total of 630 pairs of middle-aged Chinese twins were collected for heritability analysis, from...... which 63 dizygotic twin pairs were randomly selected for genome-wide linkage analysis using Affymetrix 6.0 SNP array. Regression analysis reconfirmed the significant effects of age, sex, and BMI on pulse pressure. Comparison of twin models suggested the parsimonious AE model as the best model...

  11. Plastic germline reprogramming of heritable small RNAs enables maintenance or erasure of epigenetic memories.

    Science.gov (United States)

    Houri-Ze'evi, Leah; Rechavi, Oded

    2016-12-01

    In Caenorhabditis elegans small RNAs can regulate genes across generations. The mysterious tendency of heritable RNA interference (RNAi) responses to terminate after 3-5 generations has been referred to as "the bottleneck to RNAi inheritance." We have recently shown that the re-setting of epigenetic inheritance after 3-5 generations is not due to passive dilution of the original RNA trigger, but instead results from an active, multigenerational, and small RNA-mediated regulatory pathway. In this "Point of View" manuscript we suggest that the process that leads to the erasure of the ancestral small RNA-encoded memory is a specialized type of germline reprogramming mechanism, analogous to the processes that robustly remove parental DNA methylation and histone modifications early in development in different organisms. Traditionally, germline reprogramming mechanisms that re-set chromatin are thought to stand in the way of inheritance of memories of parental experiences. We found that reprogramming of heritable small RNAs takes multiple generations to complete, enabling long-term inheritance of small RNA responses. Moreover, the duration of this reprogramming process can be prolonged significantly if new heritable RNAi responses are provoked. A dedicated signaling pathway that is responsive to environmental cues can tune the epigenetic state of the RNAi inheritance system, so that inheritance of particular small RNA species can be extended.

  12. Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence.

    Science.gov (United States)

    St Pourcain, Beate; Haworth, C M A; Davis, O S P; Wang, Kai; Timpson, Nicholas J; Evans, David M; Kemp, John P; Ronald, Angelica; Price, Tom; Meaburn, Emma; Ring, Susan M; Golding, Jean; Hakonarson, Hakon; Plomin, R; Davey Smith, George

    2015-06-01

    Peer behaviour plays an important role in the development of social adjustment, though little is known about its genetic architecture. We conducted a twin study combined with a genome-wide complex trait analysis (GCTA) and a genome-wide screen to characterise genetic influences on problematic peer behaviour during childhood and adolescence. This included a series of longitudinal measures (parent-reported Strengths-and-Difficulties Questionnaire) from a UK population-based birth-cohort (ALSPAC, 4-17 years), and a UK twin sample (TEDS, 4-11 years). Longitudinal twin analysis (TEDS; N ≤ 7,366 twin pairs) showed that peer problems in childhood are heritable (4-11 years, 0.60 adolescence (13-17 years, 0.14 peer problems with the highest GCTA-heritability (10, 13 and 17 years, 0.0002 peer relationships are heritable but genetically complex and heterogeneous from age to age, with an increase in common measurable genetic variation during adolescence.

  13. Slowing down DNA translocation by a nanofiber meshed layer

    Science.gov (United States)

    Zhao, Yue; Xie, Wanyi; Tian, Enling; Ren, Yiwei; Zhu, Jifeng; Deng, Yunsheng; He, Shixuan; Liang, Liyuan; Wang, Yunjiao; Zhou, Daming; Wang, Deqiang

    2018-01-01

    Due to the weak interaction between DNA molecules and the inner surface of nanopores, DNA translocation is very fast, just leaving a short current drop without sufficient information to recognise the nucleotide sequence in the strand. In this paper, we propose a nanopore-nanofiber mesh hybridized structure to decelerate DNA translocation speed. Experimental results reveal that due to hydrophobic interaction between the DNA fragments and the nanofibers, the DNA moving speed can be retarded to two orders of magnitude slower. Furthermore, according to theory simulations, the additional fiber layer will reduce the electric field in the channel but elongate the capture region at the pore orifice, which will be helpful for increasing the capture rate and extending the DNA dwelling time in the meanwhile.

  14. Blending of heritable recognition cues among ant nestmates creates distinct colony gestalt odours but prevents within-colony nepotism

    DEFF Research Database (Denmark)

    van Zweden, Jelle Stijn; Brask, Josefine B.; Christensen, Jan H.

    2010-01-01

    members to create a Gestalt odour. Although earlier studies have established that hydrocarbon profiles are influenced by heritable factors, transfer among nestmates and additional environmental factors, no studies have quantified these relative contributions for separate compounds. Here, we use the ant...... Formica rufibarbis in a cross-fostering design to test the degree to which hydrocarbons are heritably synthesized by young workers and transferred by their foster workers. Bioassays show that nestmate recognition has a significant heritable component. Multivariate quantitative analyses based on 38...... discrimination or as nestmate recognition cues. These results indicate that heritable compounds are suitable for establishing a genetic Gestalt for efficient nestmate recognition, but that recognition cues within colonies are insufficiently distinct to allow nepotistic kin discrimination....

  15. Expression of multiple sexual signals by fathers and sons in the East-Mediterranean barn swallow: are advertising strategies heritable?

    National Research Council Canada - National Science Library

    Vortman, Yoni; Safran, Rebecca J; Reiner Brodetzki, Tali; Dor, Roi; Lotem, Arnon

    2015-01-01

    ... of a strategy for resource allocation among signals. As a result, even when the expression of sexual signals is condition dependent, the relative level of expression of each signal may be heritable...

  16. Particles translocate from the vagina to the oviducts and beyond

    Energy Technology Data Exchange (ETDEWEB)

    Wehner, A.P.; Hall, A.S.; Weller, R.E.; Lepel, E.A.; Schirmer, R.E.

    1985-03-01

    To investigate whether particles deposited in the vagina translocate to the oviducts, 0.3 ml of a 4% bone black suspension was deposited in the posterior vaginal fornix of each of five cynomolgus monkeys (Macaca fascicularis) during their mid-menstrual cycle. Simultaneously, each animal received 10 units of oxytocin by intramuscular injection. The oviducts of three animals were removed 1 hr after administration of the bone black, while those of the remaining two animals were removed 72 hr after dosing. The removed oviducts were flushed with Hank's solution and then with collagenase solution. The solutions were collected in clean vials and filtered. The filters were examined for bone black particles by light microscopy, as were filters through which solution blanks (negative controls) had been passed. Particles resembling bone black were found on all filters. There were no appreciable differences in the number or shape of these particles between the solution-blank filters and the oviduct-flush filters. The particles on both the solution-blank filters and on the oviduct-flush filters probably originated from environmental contamination by ubiquitous carbon particles. While these results suggested that no translocation took place, translocation could not be ruled out with certainty in the absence of quantitative analyses. A more definitive pilot study was then conducted with two dosed monkeys and one control, using talc labelled by neutron activation to circumvent the problem of environmental contamination. Gamma-Ray analysis of tissue and peritoneal lavage samples for the radionuclides /sup 46/Sc, /sup 59/Fe and /sup 60/Co indicated that no measurable quantities (i.e. greater than 0.5 micrograms) of talc translocated from the deposition site in the vagina to the uterine cavity and beyond.

  17. "Translocal Express" juba täna! / Rael Artel

    Index Scriptorium Estoniae

    Artel, Rael, 1980-

    2009-01-01

    27. märtsil algab Kumu Kunstimuuseumis "Public Preparation'i" ("Avalik ettevalmistus") sarja rahvusvaheline seminar "Translocal Express. Golden Age" ("Translokaalne ekspress. Kuldaeg"), kus on kõne all ajalookirjutamise ja kollektiivse mälu roll praegu domineerivas natsionalistlikus diskursuses ja selle käsitlemine kaasaegses kunstis. Seminaril on lähtutud eelkõige kunstnike Martin Krenni (Viin) ja Kristina Normani teoste tutvustamisest

  18. Identity of distributions of direct uphill and downhill translocation times for particles traversing membrane channels.

    Science.gov (United States)

    Berezhkovskii, Alexander M; Hummer, Gerhard; Bezrukov, Sergey M

    2006-07-14

    We study the distribution of direct translocation times for particles passing through membrane channels connecting two reservoirs. The direct translocation time is a conditional first-passage time defined as the residence time of the particle in the channel while passing to the other side of the membrane directly, i.e., without returning to the reservoir from which it entered. We show that the distributions of direct translocation times are identical for translocation in both directions, independent of any asymmetry in the potential across the channel and, hence, the translocation probabilities.

  19. Tissue culture of endod (Phytolacca dodecandra L'Herit): growth and production of ribosome-inactivating proteins.

    Science.gov (United States)

    Bonness, M S; Mabry, T J

    1992-03-01

    Leaves and stems from endod (Phytolacca dodecandra L'Herit), known to produce the 29 kDa ribosome-inactivating protein (RIP) dodecandrin, were initiated into tissue culture. Callus and suspension cultures were maintained on modified Murashige and Skoog medium plus 1.0 mg/l 2,4-dichlorophenoxyacetic acid. Six callus and two suspension cell lines were screened for dodecandrin production by western blots with affinitypurified antiserum. Antiribosomal activity of culture extracts was tested by in vitro translation assays. One suspension cell line was found to be free of immunoreactive proteins and a ribosome inhibitor. All other cell lines contain a ribosome inhibitor, although only two callus cell lines show detectable amounts of immunoreactive proteins at the same Mr as dodecandrin. Other immuno-reactive proteins were detected in callus (Mr 31000, 33000, 41000 and 43000) and in suspension cells (Mr 23000 and ∼43000), and may be ribosome inhibitors related to dodecandrin-either other RIPs or dodecandrin at various stages of processing.

  20. Black bears in Arkansas: Characteristics of a successful translocation

    Science.gov (United States)

    Smith, Kimberly G.; Clark, Joseph D.

    1994-01-01

    In 1958, the Arkansas Game and Fish Commission began translocating black bears (Ursus americanus) from Minnesota to the Interior Highlands (Ozark and Ouachita mountains) of Arkansas where bears had been extirpated early in this century. This project continued for 11 years with little public imput, during which time an estimated 254 bears were released. We estimate there are now >2,500 bears in the Interior Highlands of Arkansas, Missouri, and Oklahoma, making it one of the most successful translocations of a Carnivora. Factors that contributed to the success include use of wild-captured animals, elimination of major factors associated with extirpation, release into prime habitats within the former range, multiple release sites, release of 20–40 animals/year for eight years, and release of mostly males prior to release of mostly females. Studies on two allopatric populations demonstrate that they are now diverging in some demographic characteristics, including litter size, cub survivorship, and adult sex-ratio. Translocation of black bears to the Interior Highlands is successful in terms of numbers of animals, but it will not be truly successful until people accept black bears as part of the regional fauna. To that end, those associated with management and research of bears in Arkansas are now focussing on public education and control of nuisance bears.

  1. Spatial behaviour and survival of translocated wild brown hares

    Directory of Open Access Journals (Sweden)

    Fischer, C.

    2012-01-01

    Full Text Available The fragility of many populations of brown hares in Western Europe is a concern for managers, hunters and naturalists. We took advantage of a locally high density population to use wild individuals to restock areas where the species had disappeared or was close to disappearing. The aim of the project was to assess the evolution of the spatial behaviour after release using radio–tracking. Over 150 wild brown hares were translocated, one third of which were fitted with radio collars. In addition, fifteen individuals were radio–tagged and released back into the source population as a control. Most individuals settled in less than two months and their seasonal home range, once settled, was similar to that observed in the source population. Mean duration of tracking was not significantly different between the two groups. Moreover, two years after the last translocation, tagged individuals can still be observed, but most hares present are not tagged, which indicates natural reproduction of the released individuals. The translocation of wild individuals thus appears to give encouraging results.

  2. A WRKY Transcription Factor Regulates Fe Translocation under Fe Deficiency.

    Science.gov (United States)

    Yan, Jing Ying; Li, Chun Xiao; Sun, Li; Ren, Jiang Yuan; Li, Gui Xin; Ding, Zhong Jie; Zheng, Shao Jian

    2016-07-01

    Iron (Fe) deficiency affects plant growth and development, leading to reduction of crop yields and quality. Although the regulation of Fe uptake under Fe deficiency has been well studied in the past decade, the regulatory mechanism of Fe translocation inside the plants remains unknown. Here, we show that a WRKY transcription factor WRKY46 is involved in response to Fe deficiency. Lack of WRKY46 (wrky46-1 and wrky46-2 loss-of-function mutants) significantly affects Fe translocation from root to shoot and thus causes obvious chlorosis on the new leaves under Fe deficiency. Gene expression analysis reveals that expression of a nodulin-like gene (VACUOLAR IRON TRANSPORTER1-LIKE1 [VITL1]) is dramatically increased in wrky46-1 mutant. VITL1 expression is inhibited by Fe deficiency, while the expression of WRKY46 is induced in the root stele. Moreover, down-regulation of VITL1 expression can restore the chlorosis phenotype on wrky46-1 under Fe deficiency. Further yeast one-hybrid and chromatin immunoprecipitation experiments indicate that WRKY46 is capable of binding to the specific W-boxes present in the VITL1 promoter. In summary, our results demonstrate that WRKY46 plays an important role in the control of root-to-shoot Fe translocation under Fe deficiency condition via direct regulation of VITL1 transcript levels. © 2016 American Society of Plant Biologists. All Rights Reserved.

  3. Heritability and quantitative genetic divergence of serotiny, a fire-persistence plant trait.

    Science.gov (United States)

    Hernández-Serrano, Ana; Verdú, Miguel; Santos-Del-Blanco, Luís; Climent, José; González-Martínez, Santiago C; Pausas, Juli G

    2014-09-01

    Although it is well known that fire acts as a selective pressure shaping plant phenotypes, there are no quantitative estimates of the heritability of any trait related to plant persistence under recurrent fires, such as serotiny. In this study, the heritability of serotiny in Pinus halepensis is calculated, and an evaluation is made as to whether fire has left a selection signature on the level of serotiny among populations by comparing the genetic divergence of serotiny with the expected divergence of neutral molecular markers (QST-FST comparison). A common garden of P. halepensis was used, located in inland Spain and composed of 145 open-pollinated families from 29 provenances covering the entire natural range of P. halepensis in the Iberian Peninsula and Balearic Islands. Narrow-sense heritability (h(2)) and quantitative genetic differentiation among populations for serotiny (QST) were estimated by means of an 'animal model' fitted by Bayesian inference. In order to determine whether genetic differentiation for serotiny is the result of differential natural selection, QST estimates for serotiny were compared with FST estimates obtained from allozyme data. Finally, a test was made of whether levels of serotiny in the different provenances were related to different fire regimes, using summer rainfall as a proxy for fire regime in each provenance. Serotiny showed a significant narrow-sense heritability (h(2)) of 0·20 (credible interval 0·09-0·40). Quantitative genetic differentiation among provenances for serotiny (QST = 0·44) was significantly higher than expected under a neutral process (FST = 0·12), suggesting adaptive differentiation. A significant negative relationship was found between the serotiny level of trees in the common garden and summer rainfall of their provenance sites. Serotiny is a heritable trait in P. halepensis, and selection acts on it, giving rise to contrasting serotiny levels among populations depending on the fire regime, and

  4. Heritability of cardiovascular and personality traits in 6,148 Sardinians.

    Directory of Open Access Journals (Sweden)

    Giuseppe Pilia

    2006-08-01

    Full Text Available In family studies, phenotypic similarities between relatives yield information on the overall contribution of genes to trait variation. Large samples are important for these family studies, especially when comparing heritability between subgroups such as young and old, or males and females. We recruited a cohort of 6,148 participants, aged 14-102 y, from four clustered towns in Sardinia. The cohort includes 34,469 relative pairs. To extract genetic information, we implemented software for variance components heritability analysis, designed to handle large pedigrees, analyze multiple traits simultaneously, and model heterogeneity. Here, we report heritability analyses for 98 quantitative traits, focusing on facets of personality and cardiovascular function. We also summarize results of bivariate analyses for all pairs of traits and of heterogeneity analyses for each trait. We found a significant genetic component for every trait. On average, genetic effects explained 40% of the variance for 38 blood tests, 51% for five anthropometric measures, 25% for 20 measures of cardiovascular function, and 19% for 35 personality traits. Four traits showed significant evidence for an X-linked component. Bivariate analyses suggested overlapping genetic determinants for many traits, including multiple personality facets and several traits related to the metabolic syndrome; but we found no evidence for shared genetic determinants that might underlie the reported association of some personality traits and cardiovascular risk factors. Models allowing for heterogeneity suggested that, in this cohort, the genetic variance was typically larger in females and in younger individuals, but interesting exceptions were observed. For example, narrow heritability of blood pressure was approximately 26% in individuals more than 42 y old, but only approximately 8% in younger individuals. Despite the heterogeneity in effect sizes, the same loci appear to contribute to variance

  5. Heritability of Cardiovascular and Personality Traits in 6,148 Sardinians

    Science.gov (United States)

    Scuteri, Angelo; Orrú, Marco; Albai, Giuseppe; Dei, Mariano; Lai, Sandra; Usala, Gianluca; Lai, Monica; Loi, Paola; Mameli, Cinzia; Vacca, Loredana; Deiana, Manila; Olla, Nazario; Masala, Marco; Cao, Antonio; Najjar, Samer S; Terracciano, Antonio; Nedorezov, Timur; Sharov, Alexei; Zonderman, Alan B; Abecasis, Gonçalo R; Costa, Paul; Lakatta, Edward; Schlessinger, David

    2006-01-01

    In family studies, phenotypic similarities between relatives yield information on the overall contribution of genes to trait variation. Large samples are important for these family studies, especially when comparing heritability between subgroups such as young and old, or males and females. We recruited a cohort of 6,148 participants, aged 14–102 y, from four clustered towns in Sardinia. The cohort includes 34,469 relative pairs. To extract genetic information, we implemented software for variance components heritability analysis, designed to handle large pedigrees, analyze multiple traits simultaneously, and model heterogeneity. Here, we report heritability analyses for 98 quantitative traits, focusing on facets of personality and cardiovascular function. We also summarize results of bivariate analyses for all pairs of traits and of heterogeneity analyses for each trait. We found a significant genetic component for every trait. On average, genetic effects explained 40% of the variance for 38 blood tests, 51% for five anthropometric measures, 25% for 20 measures of cardiovascular function, and 19% for 35 personality traits. Four traits showed significant evidence for an X-linked component. Bivariate analyses suggested overlapping genetic determinants for many traits, including multiple personality facets and several traits related to the metabolic syndrome; but we found no evidence for shared genetic determinants that might underlie the reported association of some personality traits and cardiovascular risk factors. Models allowing for heterogeneity suggested that, in this cohort, the genetic variance was typically larger in females and in younger individuals, but interesting exceptions were observed. For example, narrow heritability of blood pressure was approximately 26% in individuals more than 42 y old, but only approximately 8% in younger individuals. Despite the heterogeneity in effect sizes, the same loci appear to contribute to variance in young and old

  6. Comparison between multitrait and unitrait analysis in the heritability estimate of electrical conductivity of milk

    Directory of Open Access Journals (Sweden)

    Daniella Flavia Vilas Boas

    2012-12-01

    Full Text Available Electrical conductivity of milk is an indirect method for diagnosis of mastitis that can be used as criterion of selection in breeding programs, to obtain more resistant animals to infection. Data from 9,302 records of electrical conductivity from the morning milking (ECM, 13,070 milk yield records (MY and 11,560 records of milking time (MT, of 1,129 first lactation Holstein cows, calving from 2001 to 2011, were used in statistical analysis. Data of eight herds of Southeast region of Brazil were obtained by the WESTFALIA® electronic milking machines, with “Dairyplan” management system. Two analysis were performed: a multitrait, including MY, MT and ECM, and an unitrait, considering only test-day morning electrical conductivity. The model included additive genetic, permanent environmental and residual effects as random. Additionally, contemporary groups (CG, the age of cow at calving (AGC and days in milk (DIM (linear and quadratic regression were included as fixed effects. The CG was composed by herd, year and month of test. DIM classes were formed with weekly intervals, constituting a total of 42 classes. The variance components were estimated by Restricted Maximum Likelihood Method (REML, using the Wombat software. The average and standard deviation of ECM were 4.80 mS cm-1 and 0.54 mS cm-1, respectively. The heritability estimates by multitrait model and their standard errors were 0.33 (0.05, 0.15 (0.03 and 0.22 (0.03 for ECM, MY and MT, respectively. Genetic correlation was 0.74 for MY and MT, 0.37 for MY and ECM and -0.09 for MY and ECM. In the unitrait analysis, the heritability estimate for ECM was 0.35 with a standard error of 0.05. These results agree with the literature that reported heritability estimates for electrical conductivity ranging from 0.26 to 0.39. Although the estimates were close, the heritability estimated by unitrait analysis was slightly higher that estimated by multtrait probably because the pedigree file was the

  7. Blending of heritable recognition cues among ant nestmates creates distinct colony gestalt odours but prevents within-colony nepotism.

    Science.gov (United States)

    van Zweden, J S; Brask, J B; Christensen, J H; Boomsma, J J; Linksvayer, T A; d'Ettorre, P

    2010-07-01

    The evolution of sociality is facilitated by the recognition of close kin, but if kin recognition is too accurate, nepotistic behaviour within societies can dissolve social cohesion. In social insects, cuticular hydrocarbons act as nestmate recognition cues and are usually mixed among colony members to create a Gestalt odour. Although earlier studies have established that hydrocarbon profiles are influenced by heritable factors, transfer among nestmates and additional environmental factors, no studies have quantified these relative contributions for separate compounds. Here, we use the ant Formica rufibarbis in a cross-fostering design to test the degree to which hydrocarbons are heritably synthesized by young workers and transferred by their foster workers. Bioassays show that nestmate recognition has a significant heritable component. Multivariate quantitative analyses based on 38 hydrocarbons reveal that a subset of branched alkanes are heritably synthesized, but that these are also extensively transferred among nestmates. In contrast, especially linear alkanes are less heritable and little transferred; these are therefore unlikely to act as cues that allow within-colony nepotistic discrimination or as nestmate recognition cues. These results indicate that heritable compounds are suitable for establishing a genetic Gestalt for efficient nestmate recognition, but that recognition cues within colonies are insufficiently distinct to allow nepotistic kin discrimination.

  8. L1cam is crucial for cell locomotion and terminal translocation of the Soma in radial migration during murine corticogenesis.

    Science.gov (United States)

    Tonosaki, Madoka; Itoh, Kyoko; Umekage, Masafumi; Kishimoto, Tomokazu; Yaoi, Takeshi; Lemmon, Vance P; Fushiki, Shinji

    2014-01-01

    L1cam (L1) is a cell adhesion molecule associated with a spectrum of human neurological diseases, the most well-known being X-linked hydrocephalus. Although we recently demonstrated that L1 plays an important role in neuronal migration during cortical histogenesis, the mechanisms of delayed migration have still not been clarified. In this study, we found that cell locomotion in the intermediate zone and terminal translocation in the primitive cortical zone (PCZ) were affected by L1-knockdown (L1-KD). Time-lapse analyses revealed that L1-KD neurons produced by in utero electroporation of shRNA targeting L1 (L1-shRNAs) molecules showed decreased locomotion velocity in the intermediate zone, compared with control neurons. Furthermore, L1-KD neurons showed longer and more undulated leading processes during translocation through the primitive cortical zone. The curvature index, a quantitative index for curvilinearity, as well as the length of the leading process, were increased, whereas the somal movement was decreased in L1-KD neurons during terminal translocation in the PCZ. These results suggest that L1 has a role in radial migration of cortical neurons.

  9. L1cam is crucial for cell locomotion and terminal translocation of the Soma in radial migration during murine corticogenesis.

    Directory of Open Access Journals (Sweden)

    Madoka Tonosaki

    Full Text Available L1cam (L1 is a cell adhesion molecule associated with a spectrum of human neurological diseases, the most well-known being X-linked hydrocephalus. Although we recently demonstrated that L1 plays an important role in neuronal migration during cortical histogenesis, the mechanisms of delayed migration have still not been clarified. In this study, we found that cell locomotion in the intermediate zone and terminal translocation in the primitive cortical zone (PCZ were affected by L1-knockdown (L1-KD. Time-lapse analyses revealed that L1-KD neurons produced by in utero electroporation of shRNA targeting L1 (L1-shRNAs molecules showed decreased locomotion velocity in the intermediate zone, compared with control neurons. Furthermore, L1-KD neurons showed longer and more undulated leading processes during translocation through the primitive cortical zone. The curvature index, a quantitative index for curvilinearity, as well as the length of the leading process, were increased, whereas the somal movement was decreased in L1-KD neurons during terminal translocation in the PCZ. These results suggest that L1 has a role in radial migration of cortical neurons.

  10. Gabapentin Inhibits Protein Kinase C Epsilon Translocation in Cultured Sensory Neurons with Additive Effects When Coapplied with Paracetamol (Acetaminophen

    Directory of Open Access Journals (Sweden)

    Vittorio Vellani

    2017-01-01

    Full Text Available Gabapentin is a well-established anticonvulsant drug which is also effective for the treatment of neuropathic pain. Although the exact mechanism leading to relief of allodynia and hyperalgesia caused by neuropathy is not known, the blocking effect of gabapentin on voltage-dependent calcium channels has been proposed to be involved. In order to further evaluate its analgesic mechanisms, we tested the efficacy of gabapentin on protein kinase C epsilon (PKCε translocation in cultured peripheral neurons isolated from rat dorsal root ganglia (DRGs. We found that gabapentin significantly reduced PKCε translocation induced by the pronociceptive peptides bradykinin and prokineticin 2, involved in both inflammatory and chronic pain. We recently showed that paracetamol (acetaminophen, a very commonly used analgesic drug, also produces inhibition of PKCε. We tested the effect of the combined use of paracetamol and gabapentin, and we found that the inhibition of translocation adds up. Our study provides a novel mechanism of action for gabapentin in sensory neurons and suggests a mechanism of action for the combined use of paracetamol and gabapentin, which has recently been shown to be effective, with a cumulative behavior, in the control of postoperative pain in human patients.

  11. Gabapentin Inhibits Protein Kinase C Epsilon Translocation in Cultured Sensory Neurons with Additive Effects When Coapplied with Paracetamol (Acetaminophen).

    Science.gov (United States)

    Vellani, Vittorio; Giacomoni, Chiara

    2017-01-01

    Gabapentin is a well-established anticonvulsant drug which is also effective for the treatment of neuropathic pain. Although the exact mechanism leading to relief of allodynia and hyperalgesia caused by neuropathy is not known, the blocking effect of gabapentin on voltage-dependent calcium channels has been proposed to be involved. In order to further evaluate its analgesic mechanisms, we tested the efficacy of gabapentin on protein kinase C epsilon (PKC ε ) translocation in cultured peripheral neurons isolated from rat dorsal root ganglia (DRGs). We found that gabapentin significantly reduced PKC ε translocation induced by the pronociceptive peptides bradykinin and prokineticin 2, involved in both inflammatory and chronic pain. We recently showed that paracetamol (acetaminophen), a very commonly used analgesic drug, also produces inhibition of PKC ε . We tested the effect of the combined use of paracetamol and gabapentin, and we found that the inhibition of translocation adds up. Our study provides a novel mechanism of action for gabapentin in sensory neurons and suggests a mechanism of action for the combined use of paracetamol and gabapentin, which has recently been shown to be effective, with a cumulative behavior, in the control of postoperative pain in human patients.

  12. Gabapentin Inhibits Protein Kinase C Epsilon Translocation in Cultured Sensory Neurons with Additive Effects When Coapplied with Paracetamol (Acetaminophen)

    Science.gov (United States)

    2017-01-01

    Gabapentin is a well-established anticonvulsant drug which is also effective for the treatment of neuropathic pain. Although the exact mechanism leading to relief of allodynia and hyperalgesia caused by neuropathy is not known, the blocking effect of gabapentin on voltage-dependent calcium channels has been proposed to be involved. In order to further evaluate its analgesic mechanisms, we tested the efficacy of gabapentin on protein kinase C epsilon (PKCε) translocation in cultured peripheral neurons isolated from rat dorsal root ganglia (DRGs). We found that gabapentin significantly reduced PKCε translocation induced by the pronociceptive peptides bradykinin and prokineticin 2, involved in both inflammatory and chronic pain. We recently showed that paracetamol (acetaminophen), a very commonly used analgesic drug, also produces inhibition of PKCε. We tested the effect of the combined use of paracetamol and gabapentin, and we found that the inhibition of translocation adds up. Our study provides a novel mechanism of action for gabapentin in sensory neurons and suggests a mechanism of action for the combined use of paracetamol and gabapentin, which has recently been shown to be effective, with a cumulative behavior, in the control of postoperative pain in human patients. PMID:28299349

  13. Uptake, Translocation, Metabolism, and Distribution of Glyphosate in Nontarget Tea Plant (Camellia sinensis L.).

    Science.gov (United States)

    Tong, Mengmeng; Gao, Wanjun; Jiao, Weiting; Zhou, Jie; Li, Yeyun; He, Lili; Hou, Ruyan

    2017-09-06

    The uptake, translocation, metabolism, and distribution behavior of glyphosate in nontarget tea plant were investigated. The negative effects appeared to grown tea saplings when the nutrient solution contained glyphosate above 200 mg L -1 . Glyphosate was highest in the roots of the tea plant, where it was also metabolized to aminomethyl phosphonic acid (AMPA). The glyphosate and AMPA in the roots were transported through the xylem or phloem to the stems and leaves. The amount of AMPA in the entire tea plant was less than 6.0% of the amount of glyphosate. The glyphosate level in fresh tea shoots was less than that in mature leaves at each day. These results indicated that free glyphosate in the soil can be continuously absorbed by, metabolized in, and transported from the roots of the tea tree into edible leaves, and therefore, free glyphosate residues in the soil should be controlled to produce teas free of glyphosate.

  14. Translocation of heavy metals from soils into floral organs and rewards of Cucurbita pepo: Implications for plant reproductive fitness.

    Science.gov (United States)

    Xun, Erna; Zhang, Yanwen; Zhao, Jimin; Guo, Jixun

    2017-11-01

    Metals and metalloids in soil could be transferred into reproductive organs and floral rewards of hyperaccumulator plants and influence their reproductive success, yet little is known whether non-hyperaccumulator plants can translocate heavy metals from soil into their floral organs and rewards (i.e., nectar and pollen) and, if so, whether plant reproduction will be affected. In our studies, summer squash (Cucurbita pepo L. cv. Golden Apple) was exposed to heavy-metal treatments during bud stage to investigate the translocation of soil-supplemented zinc, copper, nickel and lead into its floral organs (pistil, anther and nectary) and rewards (nectar and pollen) as well as floral metal accumulation effects on its reproduction. The results showed that metals taken up by squash did translocate into its floral organs and rewards, although metal accumulation varied depending on different metal types and concentrations as well as floral organ/reward types. Mean foraging time of honey bees to each male and female flower of squash grown in metal-supplemented soils was shorter relative to that of plants grown in control soils, although the visitation rate of honeybees to both male and female flowers was not affected by metal treatments. Pollen viability, pollen removal and deposition as well as mean mass per seed produced by metal-treated squash that received pollen from plants grown in control soils decreased with elevated soil-supplemented metal concentrations. The fact that squash could translocate soil-supplemented heavy metals into floral organs and rewards indicated possible reproductive consequences caused either directly (i.e., decreasing pollen viability or seed mass) or indirectly (i.e., affecting pollinators' visitation behavior to flowers) to plant fitness. Copyright © 2017 Elsevier Inc. All rights reserved.

  15. Single pyrimidine discrimination during voltage-driven translocation of osmylated oligodeoxynucleotides via the α-hemolysin nanopore

    Directory of Open Access Journals (Sweden)

    Yun Ding

    2016-01-01

    Full Text Available The influence of an electric field on an isolated channel or nanopore separating two compartments filled with electrolytes produces a constant ion flux through the pore. Nucleic acids added to one compartment traverse the pore, and modulate the current in a sequence-dependent manner. While translocation is faster than detection, the α-hemolysin nanopore (α-HL successfully senses base modifications in ssDNA immobilized within the pore. With the assistance of a processing enzyme to slow down translocation, nanopore-based DNA sequencing is now a commercially available platform. However, accurate base calling is challenging because α-HL senses a sequence, and not a single nucleotide. Osmylated DNA was recently proposed as a surrogate for nanopore-based sequencing. Osmylation is the addition of osmium tetroxide 2,2’-bipyridine (OsBp to the C5–C6 pyrimidine double bond. The process is simple, selective for deoxythymidine (dT over deoxycytidine (dC, unreactive towards the purines, practically 100% effective, and strikingly independent of length, sequence, and composition. Translocation of an oligodeoxynucleotide (oligo dA10XdA9 via α-HL is relatively slow, and exhibits distinct duration as well as distinct residual current when X = dA, dT(OsBp, or dC(OsBp. The data indicate that the α-HL constriction zone/β-barrel interacts strongly with both OsBp and the base. A 23 nucleotide long oligo with four dT(OsBp traverses 18-times slower, and the same oligo with nine (dT+dC(OsBp moieties traverses 84-times slower compared to dA20, suggesting an average rate of 40 or 180 μs/base, respectively. These translocation speeds are well above detection limits, may be further optimized, and clear the way for nanopore-based sequencing using osmylated DNA.

  16. De novo reciprocal translocation t(5;11)(q22;p15) associated with hydrops fetalis (reciprocal translocation and hydrops fetalis).

    Science.gov (United States)

    Pala, Halil Gursoy; Artunc-Ulkumen, Burcu; Uyar, Yildiz; Bal, Filiz; Baytur, Yesim Bulbul; Koyuncu, Faik Mumtaz

    2015-02-01

    This is a case of a prenatally diagnosed non-immune hydrops fetalis (NIHF) associated with translocation t(5;11)(q22;p15). An association between NIHF and this translocation has not been reported previously. The patient was referred to the perinatology clinic with hydrops fetalis diagnosis at 23 weeks' gestation. We noted that the fetus had bilateral pleural effusion, ascites, widespread subcutaneous edema, membranous ventricular septal defect, hypoplastic fifth finger middle phalanx, clinodactyly, single umbilical artery. We performed cordocentesis. Chromosomal analysis on blood showed a balanced translocation between the long arm of chromosome 5 and the short arm of chromosome 11 with karyotype of 46,XX,t(5;11)(q22;p15). We present prenatal diagnosis of a de novo translocation (5;11) in a hydropic fetus with ultrason abnormalities. In our case, karyotype analysis of the fetus, mother and father provided evidence of a de novo translocation, that might explain the NIHF.

  17. Translocation of positively and negatively charged polystyrene nanoparticles in an in vitro placental model.

    Science.gov (United States)

    Kloet, Samantha K; Walczak, Agata P; Louisse, Jochem; van den Berg, Hans H J; Bouwmeester, Hans; Tromp, Peter; Fokkink, Remco G; Rietjens, Ivonne M C M

    2015-10-01

    To obtain insight in translocation of nanoparticles across the placental barrier, translocation was studied for one positively and two negatively charged polystyrene nanoparticles (PS-NPs) of similar size in an in vitro model. The model consisted of BeWo b30 cells, derived from a human choriocarcinoma grown on a transwell insert forming a cell layer that separates an apical from a basolateral compartment. PS-NPs were characterized with respect to size, surface charge, morphology and protein corona. Translocation of PS-NPs was not related to PS-NP charge. Two PS-NPs were translocated across the BeWo transwell model to a lower extent than amoxicillin, a model compound known to be translocated over the placental barrier to only a limited extent, whereas one PS-NP showed a slightly higher translocation. Studies on the effect of transporter inhibitors on the translocation of the PS-NPs indicated that their translocation was not mediated by known transporters and mainly dependent on passive diffusion. It is concluded that the BeWo b30 model can be used as an efficient method to get an initial qualitative impression about the capacity of NPs to translocate across the placental barrier and set priorities in further in vivo studies on translocation of NPs to the fetus. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  18. A veritable menagerie of heritable bacteria from ants, butterflies, and beyond: broad molecular surveys and a systematic review.

    Directory of Open Access Journals (Sweden)

    Jacob A Russell

    Full Text Available Maternally transmitted bacteria have been important players in the evolution of insects and other arthropods, affecting their nutrition, defense, development, and reproduction. Wolbachia are the best studied among these and typically the most prevalent. While several other bacteria have independently evolved a heritable lifestyle, less is known about their host ranges. Moreover, most groups of insects have not had their heritable microflora systematically surveyed across a broad range of their taxonomic diversity. To help remedy these shortcomings we used diagnostic PCR to screen for five groups of heritable symbionts-Arsenophonus spp., Cardinium hertigii, Hamiltonella defensa, Spiroplasma spp., and Wolbachia spp.-across the ants and lepidopterans (focusing, in the latter case, on two butterfly families-the Lycaenidae and Nymphalidae. We did not detect Cardinium or Hamiltonella in any host. Wolbachia were the most widespread, while Spiroplasma (ants and lepidopterans and Arsenophonus (ants only were present at low levels. Co-infections with different Wolbachia strains appeared especially common in ants and less so in lepidopterans. While no additional facultative heritable symbionts were found among ants using universal bacterial primers, microbes related to heritable enteric bacteria were detected in several hosts. In summary, our findings show that Wolbachia are the dominant heritable symbionts of ants and at least some lepidopterans. However, a systematic review of symbiont frequencies across host taxa revealed that this is not always the case across other arthropods. Furthermore, comparisons of symbiont frequencies revealed that the prevalence of Wolbachia and other heritable symbionts varies substantially across lower-level arthropod taxa. We discuss the correlates, potential causes, and implications of these patterns, providing hypotheses on host attributes that may shape the distributions of these influential bacteria.

  19. Prenatal diagnosis of sex chromosomal inversion, translocation and deletion.

    Science.gov (United States)

    Zhang, Lin; Ren, Meihong; Song, Guining; Zhang, Yang; Liu, Xuexia; Zhang, Xiaohong; Wang, Jianliu

    2018-02-01

    The aim of the present study was to perform comprehensive prenatal diagnosis using various detection techniques on a fetus in a high‑risk pregnant woman, and to provide genetic counseling for the patient and her family so as to avoid birth defects. The routine karyotype analysis via amniocentesis, fluorescence in situ hybridization, and whole genome microarray technique were performed for the prenatal diagnosis of the fetus. The fetal karyotype was 46,X,ish der(X) inv(X)(p22.3q28)t(X;Y)(q28;q11.2)(XYqter+,SRY‑,DXZ1+, RP11‑64L19+,STS+,XYpter+); namely, one fetal X chromosome belonged to the derivative imbalanced chromosome and this chromosome demonstrated complex chromosomal rearrangements involving inversion, translocation and deletion. Notably, pericentric inversion between Xp22.3 and Xq28 was identified, and the chromosomal microarray technique confirmed that the long arm q28 of the derivative X chromosome had a 1.241‑Mb deletion in Xq28, which included Online Mendelian Inheritance in Man genes such as coagulation factor VIII, glucose‑6‑phosphate dehydrogenase, inhibitor of nuclear factor‑κB kinase subunit γ, trimethyllysine hydroxylase ε, Ras‑related protein Rab‑39B and chloride intracellular channel 2. In addition, this chromosome also exhibited the local translocation of fragment Yq11.21‑q11.23, which did not include the sex determining region Y gene. This fetus demonstrated deletion, inversion and translocation syndrome, and may exhibit the corresponding clinical phenotypes (e.g., intellectual disability or general delayed development) (1) of such chromosome abnormalities after birth. Therefore, in prenatal diagnosis, a variety of genetic diagnostic techniques should be comprehensively used based on specific clinical situations, which may accurately reveal the nature, sources and manifestations of the derivative chromosome abnormalities and avoid the birth of children with defects.

  20. International study of factors affecting human chromosome translocations

    Science.gov (United States)

    Sigurdson, Alice J.; Ha, Mina; Hauptmann, Michael; Bhatti, Parveen; Sram, Radim J.; Beskid, Olena; Tawn, E. Janet; Whitehouse, Caroline A.; Lindholm, Carita; Nakano, Mimako; Kodama, Yoshiaki; Nakamura, Nori; Vorobtsova, Irena; Oestreicher, Ursula; Stephan, Günther; Yong, Lee C.; Bauchinger, Manfred; Schmid, Ernst; Chung, Hai Won; Darroudi, Firouz; Roy, Laurence; Voisin, Phillipe; Barquinero, Joan F.; Livingston, Gordon; Blakey, David; Hayata, Isamu; Zhang, Wei; Wang, Chunyan; Bennett, L. Michelle; Littlefield, L. Gayle; Edwards, Alan A.; Kleinerman, Ruth A.; Tucker, James D.

    2009-01-01

    Chromosome translocations in peripheral blood lymphocytes of normal, healthy humans increase with age, but the effects of gender, race, and cigarette smoking on background translocation yields have not been examined systematically. Further, the shape of the relationship between age and translocation frequency (TF) has not been definitively determined. We collected existing data from sixteen laboratories in North America, Europe, and Asia on TFs measured in peripheral blood lymphocytes by fluorescence in situ hybridization whole chromosome painting among 1933 individuals. In Poisson regression models, age, ranging from newborns (cord blood) to 85 years, was strongly associated with TF and this relationship showed significant upward curvature at older ages vs. a linear relationship (p <0.001). Ever smokers had significantly higher TFs than non-smokers (rate ratio (RR) = 1.19, 95% confidence interval (CI), 1.09–1.30) and smoking modified the effect of age on TFs with a steeper age-related increase among ever smokers compared to non-smokers (p<0.001). TFs did not differ by gender. Interpreting an independent effect of race was difficult owing to laboratory variation. Our study is three times larger than any pooled effort to date, confirming a suspected curvilinear relationship of TF with age. The significant effect of cigarette smoking has not been observed with previous pooled studies of TF in humans. Our data provide stable estimates of background TF by age, gender, race, and smoking status and suggest an acceleration of chromosome damage above age 60 and among those with a history of smoking cigarettes. PMID:18337160

  1. Biopersistence and brain translocation of aluminum adjuvants of vaccines

    Directory of Open Access Journals (Sweden)

    Romain Kroum Gherardi

    2015-02-01

    Full Text Available Aluminum oxyhydroxide (alum is a crystaline compound widely used as an immunologic adjuvant of vaccines. Concerns linked to the use of alum particles emerged following recognition of their causative role in the so-called macrophagic myofasciitis (MMF lesion detected in patients with myalgic encephalomyelitis/chronic fatigue/syndrome. MMF revealed an unexpectedly long-lasting biopersistence of alum within immune cells in presumably susceptible individuals, stressing the previous fundamental misconception of its biodisposition. We previously showed that poorly biodegradable aluminum-coated particles injected into muscle are promptly phagocytozed in muscle and the draining lymph nodes, and can disseminate within phagocytic cells throughout the body and slowly accumulate in brain. This strongly suggests that long-term adjuvant biopersistence within phagocytic cells is a prerequisite for slow brain translocation and delayed neurotoxicity. The understanding of basic mechanisms of particle biopersistence and brain translocation represents a major health challenge, since it could help to define susceptibility factors to develop chronic neurotoxic damage. Biopersistence of alum may be linked to its lysosome-destabilizing effect, which is likely due to direct crystal-induced rupture of phagolysosomal membranes. Macrophages that continuously perceive foreign particles in their cytosol will likely reiterate, with variable interindividual efficiency, a dedicated form of autophagy (xenophagy until they dispose of alien materials. Successful compartmentalization of particles within double membrane autophagosomes and subsequent fusion with repaired and re-acidified lysosomes will expose alum to lysosomal acidic pH, the sole factor that can solubilize alum particles. Brain translocation of alum particles is linked to a Trojan horse mechanism previously described for infectious particles (HIV, HCV, that obeys to CCL2 signaling the major inflammatory monocyte

  2. Heritability of longevity in Large White and Landrace sows using continuous time and grouped data models.

    Science.gov (United States)

    Mészáros, Gábor; Pálos, Judit; Ducrocq, Vincent; Sölkner, Johann

    2010-05-13

    Using conventional measurements of lifetime, it is not possible to differentiate between productive and non-productive days during a sow's lifetime and this can lead to estimated breeding values favoring less productive animals. By rescaling the time axis from continuous to several discrete classes, grouped survival data (discrete survival time) models can be used instead. The productive life length of 12319 Large White and 9833 Landrace sows was analyzed with continuous scale and grouped data models. Random effect of herd*year, fixed effects of interaction between parity and relative number of piglets, age at first farrowing and annual herd size change were included in the analysis. The genetic component was estimated from sire, sire-maternal grandsire, sire-dam, sire-maternal grandsire and animal models, and the heritabilities computed for each model type in both breeds. If age at first farrowing was under 43 weeks or above 60 weeks, the risk of culling sows increased. An interaction between parity and relative litter size was observed, expressed by limited culling during first parity and severe risk increase of culling sows having small litters later in life. In the Landrace breed, heritabilities ranged between 0.05 and 0.08 (s.e. 0.014-0.020) for the continuous and between 0.07 and 0.11 (s.e. 0.016-0.023) for the grouped data models, and in the Large White breed, they ranged between 0.08 and 0.14 (s.e. 0.012-0.026) for the continuous and between 0.08 and 0.13 (s.e. 0.012-0.025) for the grouped data models. Heritabilities for length of productive life were similar with continuous time and grouped data models in both breeds. Based on these results and because grouped data models better reflect the economical needs in meat animals, we conclude that grouped data models are more appropriate in pig.

  3. The effect of heritability and host genetics on the gut microbiota and metabolic syndrome.

    Science.gov (United States)

    Lim, Mi Young; You, Hyun Ju; Yoon, Hyo Shin; Kwon, Bomi; Lee, Jae Yoon; Lee, Sunghee; Song, Yun-Mi; Lee, Kayoung; Sung, Joohon; Ko, GwangPyo

    2017-06-01

    Metabolic syndrome (MetS) arises from complex interactions between host genetic and environmental factors. Although it is now widely accepted that the gut microbiota plays a crucial role in host metabolism, current knowledge on the effect of host genetics on specific gut microbes related to MetS status remains limited. Here, we investigated the links among host genetic factors, gut microbiota and MetS in humans. We characterised the gut microbial community composition of 655 monozygotic (n=306) and dizygotic (n=74) twins and their families (n=275), of which approximately 18% (121 individuals) had MetS. We evaluated the association of MetS status with the gut microbiota and estimated the heritability of each taxon. For the MetS-related and heritable taxa, we further investigated their associations with the apolipoprotein A-V gene ( APOA5 ) single nucleotide polymorphism (SNP) rs651821, which is known to be associated with triglyceride levels and MetS. Individuals with MetS had a lower gut microbiota diversity than healthy individuals. The abundances of several taxa were associated with MetS status; Sutterella , Methanobrevibacter and Lactobacillus were enriched in the MetS group, whereas Akkermansia , Odoribacter and Bifidobacterium were enriched in the healthy group. Among the taxa associated with MetS status, the phylum Actinobacteria, to which Bifidobacterium belongs, had the highest heritability (45.7%). Even after adjustment for MetS status, reduced abundances of Actinobacteria and Bifidobacterium were significantly linked to the minor allele at the APOA5 SNP rs651821. Our results suggest that an altered microbiota composition mediated by a specific host genotype can contribute to the development of MetS. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  4. GENE ACTION AND HERITABILITY ESTIMATES OF QUANTITATIVE CHARACTERS AMONG LINES DERIVED FROM VARIETAL CROSSES OF SOYBEAN

    Directory of Open Access Journals (Sweden)

    Lukman Hakim

    2017-09-01

    Full Text Available The knowledge of genetic action, heritability and genetic variability is useful and permits plant breeder to design efficient breeding strategies in soybean.  The objectives of this study were to determine gene action, genetic variability, heritability and genetic advance of quantitative characters that could be realized through selection of segregation progenies. The F1 population and F2 progenies of six crosses among five soybean varieties were evaluated at Muneng Experimental Station, East Java during the dry season of 2014.  The lines were planted in a randomized block design with four replications.  The seeds of each F1 and F2 progenies and parents were planted in four rows of 3 m long, 40 cm x 20 cm plant spacing, one plant per hill. The result showed that pod number per plant, seed yield, plant yield and harvest index were found to be predominantly controlled by additive gene effects.  Seed size was also controlled by additive gene effects, with small seed dominant to large seed size.  Plant height was found to be controlled by both additive and nonadditive gene effects.  Similarly, days to maturity was due mainly to additive and nonadditive gene effects, with earliness dominant to lateness.  Days to maturity had the highest heritability estimates of 49.3%, followed by seed size (47.0%, harvest index (45.8%, and pod number per plant (45.5%.  Therefore, they could be used in the selection of a high yielding soybean genotype in the F3 generation. 

  5. Heritability in the efficiency of nonsense-mediated mRNA decay in humans.

    Directory of Open Access Journals (Sweden)

    Cathal Seoighe

    Full Text Available BACKGROUND: In eukaryotes mRNA transcripts of protein-coding genes in which an intron has been retained in the coding region normally result in premature stop codons and are therefore degraded through the nonsense-mediated mRNA decay (NMD pathway. There is evidence in the form of selective pressure for in-frame stop codons in introns and a depletion of length three introns that this is an important and conserved quality-control mechanism. Yet recent reports have revealed that the efficiency of NMD varies across tissues and between individuals, with important clinical consequences. PRINCIPAL FINDINGS: Using previously published Affymetrix exon microarray data from cell lines genotyped as part of the International HapMap project, we investigated whether there are heritable, inter-individual differences in the abundance of intron-containing transcripts, potentially reflecting differences in the efficiency of NMD. We identified intronic probesets using EST data and report evidence of heritability in the extent of intron expression in 56 HapMap trios. We also used a genome-wide association approach to identify genetic markers associated with intron expression. Among the top candidates was a SNP in the DCP1A gene, which forms part of the decapping complex, involved in NMD. CONCLUSIONS: While we caution that some of the apparent inter-individual difference in intron expression may be attributable to different handling or treatments of cell lines, we hypothesize that there is significant polymorphism in the process of NMD, resulting in heritable differences in the abundance of intronic mRNA. Part of this phenotype is likely to be due to a polymorphism in a decapping enzyme on human chromosome 3.

  6. Heritability of plasma concentrations of activated protein C in a Spanish population.

    Science.gov (United States)

    Soria, José M; Navarro, Silvia; Medina, Pilar; Souto, Ramón; Buil, Alfonso; Estellés, Amparo; Fontcuberta, Jordi; España, Francisco

    2009-01-01

    The protein C anticoagulant pathway plays a crucial role in the regulation of fibrin formation. Protein C is activated on the surface of endothelial cells by the thrombin-thrombomodulin complex with the stimulation of the endothelial protein C receptor. The levels of circulating activated protein C reflect in-vivo protein C activation, and a low level of activated protein C is a risk factor for venous thromboembolism. The objective of the study was to assess the relative contributions of genetic and environmental factors to the variation in the levels of activated protein C and protein C. Blood samples were collected from 126 individuals belonging to 19 Spanish families, and heritability and common household effect were estimated for protein C, activated protein C and its complexes with protein C and alpha1-antitrypsin. In addition, we calculated the genetic correlation between protein C and activated protein C phenotypes. Although all phenotypes showed significant heritability, activated protein C phenotype resulted in a very high heritability of 83%, which clearly shows that this phenotype is strongly influenced by the action of gene(s). Furthermore, the bivariant analyses of protein C and activated protein C phenotypes indicate that there is a high genetic correlation between them (0.74). Nevertheless, this correlation is counteracted by a negative environmental correlation (-0.54) resulting in a phenotypic correlation of 0.35. The presence of such strong genetic effects suggests that it will be possible to localize the loci that influence this phenotype and determine the contribution to the risk of thrombosis.

  7. Heritability and factors associated with number of harness race starts in the Spanish Trotter horse population.

    Science.gov (United States)

    Solé, M; Valera, M; Gómez, M D; Sölkner, J; Molina, A; Mészáros, G

    2017-05-01

    Longevity/durability is a relevant trait in racehorses. Genetic analysis and knowledge of factors that influence number of harness race starts would be advantageous for both horse welfare and the equine industry. To perform a genetic analysis on harness racing using number of races as a measure of longevity/durability and to identify factors associated with career length in Spanish Trotter Horses (STH). Longitudinal study. Performance data (n = 331,970) on the STH population for harness racing at national level between 1990 and 2014 were used. A grouped data model was fitted to assess factors influencing the risk of ending harness racing career and to estimate the heritability and breeding values for total number of harness races starts as an indicator of horses' longevity and durability. The model included sex, age at first race and first start earnings as time-independent effects, and the calendar year, driver, trainer, racetrack category and season of competition as time-dependent effects. Across the whole dataset, the average number of harness races horses achieved in Spain was 54.7 races, and this was associated with the horses' sex, age at first race and first start earnings, calendar year, driver, racetrack category, and season. The heritability estimated (0.17 ± 0.01) for number of harness race starts indicates that a beneficial response to direct genetic selection can be expected. Data on horses' health status were not available. Horses' total number of harness race starts is a promising tool for genetic analysis and the evaluation of racing longevity and durability. The estimated heritability provides evidence to support the application of genetic selection of total career number of races to improve longevity/durability of STH. © 2016 EVJ Ltd.

  8. Heritability in the efficiency of nonsense-mediated mRNA decay in humans

    KAUST Repository

    Seoighe, Cathal

    2010-07-21

    Background: In eukaryotes mRNA transcripts of protein-coding genes in which an intron has been retained in the coding region normally result in premature stop codons and are therefore degraded through the nonsense-mediated mRNA decay (NMD) pathway. There is evidence in the form of selective pressure for in-frame stop codons in introns and a depletion of length three introns that this is an important and conserved quality-control mechanism. Yet recent reports have revealed that the efficiency of NMD varies across tissues and between individuals, with important clinical consequences. Principal Findings: Using previously published Affymetrix exon microarray data from cell lines genotyped as part of the International HapMap project, we investigated whether there are heritable, inter-individual differences in the abundance of intron-containing transcripts, potentially reflecting differences in the efficiency of NMD. We identified intronic probesets using EST data and report evidence of heritability in the extent of intron expression in 56 HapMap trios. We also used a genome-wide association approach to identify genetic markers associated with intron expression. Among the top candidates was a SNP in the DCP1A gene, which forms part of the decapping complex, involved in NMD. Conclusions: While we caution that some of the apparent inter-individual difference in intron expression may be attributable to different handling or treatments of cell lines, we hypothesize that there is significant polymorphism in the process of NMD, resulting in heritable differences in the abundance of intronic mRNA. Part of this phenotype is likely to be due to a polymorphism in a decapping enzyme on human chromosome 3. © 2010 Seoighe, Gehring.

  9. Heritability of foot conformation and its relationship to sports performance in a Dutch Warmblood horse population.

    Science.gov (United States)

    Ducro, B J; Bovenhuis, H; Back, W

    2009-02-01

    Warmblood horse studbooks aim to breed horses with a conformation that will enable elite future performance, but reduce the risk of injuries and lameness. Negative conformational traits, such as asymmetrical or 'uneven' forefeet would possibly diminish performance. To assess the prevalence and heritability of uneven feet and its genetic relationship to other conformation traits as well as to sporting performance later in life in Warmblood riding horses. The databases of the Royal Dutch Warmblood Studbook (KWPN, n = 44,840 horses) and Royal Dutch Equestrian Sports Federation (KNHS, n = 33,459 horses in dressage and n = 30,474 horses in showjumping) were linked through the unique number of each registered horse. Therefore, heritabilities and genetic and phenotypic correlations could be estimated from the scores of the jury at studbook admission and the sports performance of that population in dressage and jumping over the period 1990-2002. The prevalence of uneven feet was 53% on average, and increased from under 4.5% during the first 3 years of recording to over 8% in the years from 2000 onwards. Heritability estimates of foot conformation traits were moderate and ranged from 0.16 for heel height to 0.27 for hoof shape. The genetic correlation between the trait of uneven feet and performance in competition was negative but weak: -0.09 with dressage and -0.12 with showjumping. Predisposition to uneven feet can be reduced by selection. Because of weak genetic correlations, the increased prevalence is not directly associated with selection for better sports performance or higher conformation grade. If the trait 'uneven feet' arises from a disproportionate relationship between height at the withers and neck length, then selection on conformation grade might result in development of uneven feet. In general, limb conformation has a moderate genetic relationship to conformation grade and foot conformation traits have a genetic relationship to sporting performance. Reducing

  10. The transcriptomes of two heritable cell types illuminate the circuit governing their differentiation.

    Directory of Open Access Journals (Sweden)

    Brian B Tuch

    2010-08-01

    Full Text Available The differentiation of cells into distinct cell types, each of which is heritable for many generations, underlies many biological phenomena. White and opaque cells of the fungal pathogen Candida albicans are two such heritable cell types, each thought to be adapted to unique niches within their human host. To systematically investigate their differences, we performed strand-specific, massively-parallel sequencing of RNA from C. albicans white and opaque cells. With these data we first annotated the C. albicans transcriptome, finding hundreds of novel differentially-expressed transcripts. Using the new annotation, we compared differences in transcript abundance between the two cell types with the genomic regions bound by a master regulator of the white-opaque switch (Wor1. We found that the revised transcriptional landscape considerably alters our understanding of the circuit governing differentiation. In particular, we can now resolve the poor concordance between binding of a master regulator and the differential expression of adjacent genes, a discrepancy observed in several other studies of cell differentiation. More than one third of the Wor1-bound differentially-expressed transcripts were previously unannotated, which explains the formerly puzzling presence of Wor1 at these positions along the genome. Many of these newly identified Wor1-regulated genes are non-coding and transcribed antisense to coding transcripts. We also find that 5' and 3' UTRs of mRNAs in the circuit are unusually long and that 5' UTRs often differ in length between cell-types, suggesting UTRs encode important regulatory information and that use of alternative promoters is widespread. Further analysis revealed that the revised Wor1 circuit bears several striking similarities to the Oct4 circuit that specifies the pluripotency of mammalian embryonic stem cells. Additional characteristics shared with the Oct4 circuit suggest a set of general hallmarks characteristic of

  11. Identification of Two Heritable Cross-Disorder Endophenotypes for Tourette Syndrome.

    Science.gov (United States)

    Darrow, Sabrina M; Hirschtritt, Matthew E; Davis, Lea K; Illmann, Cornelia; Osiecki, Lisa; Grados, Marco; Sandor, Paul; Dion, Yves; King, Robert; Pauls, David; Budman, Cathy L; Cath, Danielle C; Greenberg, Erica; Lyon, Gholson J; Yu, Dongmei; McGrath, Lauren M; McMahon, William M; Lee, Paul C; Delucchi, Kevin L; Scharf, Jeremiah M; Mathews, Carol A

    2017-04-01

    Phenotypic heterogeneity in Tourette syndrome is partly due to complex genetic relationships among Tourette syndrome, obsessive-compulsive disorder (OCD), and attention deficit hyperactivity disorder (ADHD). Identifying symptom-based endophenotypes across diagnoses may aid gene-finding efforts. Assessments for Tourette syndrome, OCD, and ADHD symptoms were conducted in a discovery sample of 3,494 individuals recruited for genetic studies. Symptom-level factor and latent class analyses were conducted in Tourette syndrome families and replicated in an independent sample of 882 individuals. Classes were characterized by comorbidity rates and proportion of parents included. Heritability and polygenic load associated with Tourette syndrome, OCD, and ADHD were estimated. The authors identified two cross-disorder symptom-based phenotypes across analyses: symmetry (symmetry, evening up, checking obsessions; ordering, arranging, counting, writing-rewriting compulsions, repetitive writing tics) and disinhibition (uttering syllables/words, echolalia/palilalia, coprolalia/copropraxia, and obsessive urges to offend/mutilate/be destructive). Heritability estimates for both endophenotypes were high and statistically significant (disinhibition factor=0.35, SE=0.03; symmetry factor=0.39, SE=0.03; symmetry class=0.38, SE=0.10). Mothers of Tourette syndrome probands had high rates of symmetry (49%) but not disinhibition (5%). Polygenic risk scores derived from a Tourette syndrome genome-wide association study (GWAS) were significantly associated with symmetry, while risk scores derived from an OCD GWAS were not. OCD polygenic risk scores were significantly associated with disinhibition, while Tourette syndrome and ADHD risk scores were not. The analyses identified two heritable endophenotypes related to Tourette syndrome that cross traditional diagnostic boundaries. The symmetry phenotype correlated with Tourette syndrome polygenic load and was present in otherwise Tourette

  12. Sexual dimorphism in melanin pigmentation, feather coloration and its heritability in the barn swallow (Hirundo rustica).

    Science.gov (United States)

    Saino, Nicola; Romano, Maria; Rubolini, Diego; Teplitsky, Celine; Ambrosini, Roberto; Caprioli, Manuela; Canova, Luca; Wakamatsu, Kazumasa

    2013-01-01

    Melanin is the main pigment in animal coloration and considerable variation in the concentrations of the two melanin forms (pheo- and eumlanin) in pigmented tissues exists among populations and individuals. Melanin-based coloration is receiving increasing attention particularly in socio-sexual communication contexts because the melanocortin system has been hypothesized to provide a mechanistic basis for covariation between coloration and fitness traits. However, with few notable exceptions, little detailed information is available on inter-individual and inter-population variation in melanin pigmentation and on its environmental, genetic and ontogenetic components. Here, we investigate melanin-based coloration in an Italian population of a passerine bird, the barn swallow (Hirundo rustica rustica), its sex- and age-related variation, and heritability. The concentrations of eu- and pheomelanin in the throat (brown) and belly (white-to-brownish) feathers differed between sexes but not according to age. The relative concentration of either melanin (Pheo:Eu) differed between sexes in throat but not in belly feathers, and the concentrations in males compared to females were larger in belly than in throat feathers. There were weak correlations between the concentrations of melanins within as well as among plumage regions. Coloration of belly feathers was predicted by the concentration of both melanins whereas coloration of throat feathers was only predicted by pheomelanin in females. In addition, Pheo:Eu predicted coloration of throat feathers in females and that of belly feathers in males. Finally, we found high heritability of color of throat feathers. Melanization was found to differ from that recorded in Hirundo rustica rustica from Scotland or from H. r. erythrogaster from North America. Hence, present results show that pigmentation strategies vary in a complex manner according to sex and plumage region, and also among geographical populations, potentially

  13. Segregation and Heritability of Male Sterility in Populations Derived from Progeny of Satsuma Mandarin.

    Science.gov (United States)

    Goto, Shingo; Yoshioka, Terutaka; Ohta, Satoshi; Kita, Masayuki; Hamada, Hiroko; Shimizu, Tokurou

    2016-01-01

    Male sterility derived from Satsuma mandarin (Citrus unshiu) has been used in Japanese citrus breeding programs to obtain seedless cultivars, which is a desirable trait for consumers. Male sterility has often been evaluated by anther development or pollen fertility; however, the inheritance and heritability of male sterility derived from Satsuma is poorly understood. In this study, we investigated the mode of inheritance and broad-sense heritability of male sterility derived from Satsuma. Initially, we evaluated the total number of pollen grains per anther and apparent pollen fertility, as indicated by lactophenol blue staining, in 15 citrus cultivars and selections to understand the male sterility of Satsuma. The results indicated that male sterility was primarily caused by decreased number of pollen grains per anther in progeny of Satsuma. We also evaluated these traits in three F1 populations (hyuganatsu × 'Okitsu No. 56', 'Okitsu No. 46' × 'Okitsu No. 56' and 'Okitsu No. 46' × 'Kara'), of which the parents are derived from Satsuma. Individuals in these populations showed strong segregation for number of pollen grains per anther. The apparent fertility of pollen also showed segregation but was almost constant at 70%-90%. The estimated broad-sense heritability for the number of pollen grains per anther was as high as 0.898 in the 'Okitsu No. 46' × 'Okitsu No. 56' and 'Okitsu No. 46' × 'Kara' populations. These results indicated that the number of pollen grains per anther primarily determined male sterility among progeny of Satsuma, and this trait was inherited by the progeny. Development of DNA markers closely linked to male sterility using the F1 populations of 'Okitsu No. 46' × 'Okitsu No. 56' and 'Okitsu No. 46' × 'Kara' is expected to contribute to the breeding of novel seedless citrus cultivars.

  14. Sexual dimorphism in melanin pigmentation, feather coloration and its heritability in the barn swallow (Hirundo rustica.

    Directory of Open Access Journals (Sweden)

    Nicola Saino

    Full Text Available Melanin is the main pigment in animal coloration and considerable variation in the concentrations of the two melanin forms (pheo- and eumlanin in pigmented tissues exists among populations and individuals. Melanin-based coloration is receiving increasing attention particularly in socio-sexual communication contexts because the melanocortin system has been hypothesized to provide a mechanistic basis for covariation between coloration and fitness traits. However, with few notable exceptions, little detailed information is available on inter-individual and inter-population variation in melanin pigmentation and on its environmental, genetic and ontogenetic components. Here, we investigate melanin-based coloration in an Italian population of a passerine bird, the barn swallow (Hirundo rustica rustica, its sex- and age-related variation, and heritability. The concentrations of eu- and pheomelanin in the throat (brown and belly (white-to-brownish feathers differed between sexes but not according to age. The relative concentration of either melanin (Pheo:Eu differed between sexes in throat but not in belly feathers, and the concentrations in males compared to females were larger in belly than in throat feathers. There were weak correlations between the concentrations of melanins within as well as among plumage regions. Coloration of belly feathers was predicted by the concentration of both melanins whereas coloration of throat feathers was only predicted by pheomelanin in females. In addition, Pheo:Eu predicted coloration of throat feathers in females and that of belly feathers in males. Finally, we found high heritability of color of throat feathers. Melanization was found to differ from that recorded in Hirundo rustica rustica from Scotland or from H. r. erythrogaster from North America. Hence, present results show that pigmentation strategies vary in a complex manner according to sex and plumage region, and also among geographical populations

  15. Segregation and Heritability of Male Sterility in Populations Derived from Progeny of Satsuma Mandarin.

    Directory of Open Access Journals (Sweden)

    Shingo Goto

    Full Text Available Male sterility derived from Satsuma mandarin (Citrus unshiu has been used in Japanese citrus breeding programs to obtain seedless cultivars, which is a desirable trait for consumers. Male sterility has often been evaluated by anther development or pollen fertility; however, the inheritance and heritability of male sterility derived from Satsuma is poorly understood. In this study, we investigated the mode of inheritance and broad-sense heritability of male sterility derived from Satsuma. Initially, we evaluated the total number of pollen grains per anther and apparent pollen fertility, as indicated by lactophenol blue staining, in 15 citrus cultivars and selections to understand the male sterility of Satsuma. The results indicated that male sterility was primarily caused by decreased number of pollen grains per anther in progeny of Satsuma. We also evaluated these traits in three F1 populations (hyuganatsu × 'Okitsu No. 56', 'Okitsu No. 46' × 'Okitsu No. 56' and 'Okitsu No. 46' × 'Kara', of which the parents are derived from Satsuma. Individuals in these populations showed strong segregation for number of pollen grains per anther. The apparent fertility of pollen also showed segregation but was almost constant at 70%-90%. The estimated broad-sense heritability for the number of pollen grains per anther was as high as 0.898 in the 'Okitsu No. 46' × 'Okitsu No. 56' and 'Okitsu No. 46' × 'Kara' populations. These results indicated that the number of pollen grains per anther primarily determined male sterility among progeny of Satsuma, and this trait was inherited by the progeny. Development of DNA markers closely linked to male sterility using the F1 populations of 'Okitsu No. 46' × 'Okitsu No. 56' and 'Okitsu No. 46' × 'Kara' is expected to contribute to the breeding of novel seedless citrus cultivars.

  16. Heritability in the efficiency of nonsense-mediated mRNA decay in humans.

    LENUS (Irish Health Repository)

    Seoighe, Cathal

    2010-01-01

    BACKGROUND: In eukaryotes mRNA transcripts of protein-coding genes in which an intron has been retained in the coding region normally result in premature stop codons and are therefore degraded through the nonsense-mediated mRNA decay (NMD) pathway. There is evidence in the form of selective pressure for in-frame stop codons in introns and a depletion of length three introns that this is an important and conserved quality-control mechanism. Yet recent reports have revealed that the efficiency of NMD varies across tissues and between individuals, with important clinical consequences. PRINCIPAL FINDINGS: Using previously published Affymetrix exon microarray data from cell lines genotyped as part of the International HapMap project, we investigated whether there are heritable, inter-individual differences in the abundance of intron-containing transcripts, potentially reflecting differences in the efficiency of NMD. We identified intronic probesets using EST data and report evidence of heritability in the extent of intron expression in 56 HapMap trios. We also used a genome-wide association approach to identify genetic markers associated with intron expression. Among the top candidates was a SNP in the DCP1A gene, which forms part of the decapping complex, involved in NMD. CONCLUSIONS: While we caution that some of the apparent inter-individual difference in intron expression may be attributable to different handling or treatments of cell lines, we hypothesize that there is significant polymorphism in the process of NMD, resulting in heritable differences in the abundance of intronic mRNA. Part of this phenotype is likely to be due to a polymorphism in a decapping enzyme on human chromosome 3.

  17. Heritability of peripheral refraction in Chinese children and adolescents: the Guangzhou Twin Eye study.

    Science.gov (United States)

    Ding, Xiaohu; Lin, Zhi; Huang, Qunxiao; Zheng, Yingfeng; Congdon, Nathan; He, Mingguang

    2012-01-10

    To estimate the heritability of peripheral refraction in Chinese children and adolescents. The authors examined 72 monozygotic (MZ) twins and 48 dizygotic (DZ) twins aged 8 to 20 years from a population-based twin registry. Temporal and nasal peripheral refraction, each 40° from the visual axis, and axial refraction were measured using an autorefractor. Relative peripheral refractive error (RPRE) was defined as the peripheral refraction minus the axial refraction. Heritability was assessed by structural equation modeling after adjustment for age and sex. The mean and SD of temporal refraction (T(40)), nasal refraction (N(40)), RPRE-T(40), RPRE-N(40), and T(40)-N(40) asymmetry were -0.27 ± 2.0 D, 0.36 ± 2.19 D, 1.18 ± 1.39 D, 1.80 ± 1.69 D, and -0.62 ± 1.58 D, respectively. The intraclass correlations for T(40) refraction, N(40) refraction, RPRE-T(40), RPRE-N(40), and T(40)-N(40) asymmetry were 0.87, 0.83, 0.65, 0.74, and 0.58 for MZ pairs and 0.49, 0.42, 0.30, 0.41, and 0.32 for DZ pairs, respectively. A model with additive genetic and unique environmental effects was the most parsimonious, with heritability values estimated as 0.84, 0.76, 0.63, 0.70, and 0.55, respectively, for the peripheral refractive parameters. Additive genetic effects appear to explain most of the variance in peripheral refraction and relative peripheral refraction when adjusting for the effects of axial refraction.

  18. Heritability of hsp70 expression in the beetle Tenebrio molitor: Ontogenetic and environmental effects.

    Science.gov (United States)

    Lardies, Marco A; Arias, María Belén; Poupin, María Josefina; Bacigalupe, Leonardo D

    2014-08-01

    Ectotherms constitute the vast majority of terrestrial biodiversity and are especially likely to be vulnerable to climate warming because their basic physiological functions such as locomotion, growth, and reproduction are strongly influenced by environmental temperature. An integrated view about the effects of global warming will be reached not just establishing how the increase in mean temperature impacts the natural populations but also establishing the effects of the increase in temperature variance. One of the molecular responses that are activated in a cell under a temperature stress is the heat shock protein response (HSP). Some studies that have detected consistent differences among thermal treatments and ontogenetic stages in HSP70 expression have assumed that these differences had a genetic basis and consequently expression would be heritable. We tested for changes in quantitative genetic parameters of HSP70 expression in a half-sib design where individuals of the beetle Tenebrio molitor were maintained in constant and varying thermal environments. We estimated heritability of HSP70 expression using a linear mixed modelling approach in different ontogenetic stages. Expression levels of HSP70 were consistently higher in the variable environment and heritability estimates were low to moderate. The results imply that within each ontogenetic stage additive genetic variance was higher in the variable environment and in adults compared with constant environment and larvae stage, respectively. We found that almost all the genetic correlations across ontogenetic stages and environment were positive. These suggest that directional selection for higher levels of expression in one environment will result in higher expression levels of HSP70 on the other environment for the same ontogenetic stage. Copyright © 2014 Elsevier Ltd. All rights reserved.

  19. Inheritance and heritability of deltamethrin resistance under laboratory conditions of Triatoma infestans from Bolivia.

    Science.gov (United States)

    Gomez, Marinely Bustamante; Pessoa, Grasielle D'Avila Caldas; Rosa, Aline Cristine Luiz; Echeverria, Jorge Espinoza; Diotaiuti, Liléia Gonçalves

    2015-11-16

    Over the last few decades, pyrethroid-resistant in Triatoma infestans populations have been reported, mainly on the border between Argentina and Bolivia. Understanding the genetic basis of inheritance mode and heritability of resistance to insecticides under laboratory conditions is crucial for vector management and monitoring of insecticide resistance. Currently, few studies have been performed to characterize the inheritance mode of resistance to pyrethroids in T. infestans; for this reason, the present study aims to characterize the inheritance and heritability of deltamethrin resistance in T. infestans populations from Bolivia with different toxicological profiles. Experimental crosses were performed between a susceptible (S) colony and resistant (R) and reduced susceptibility (RS) colonies in both directions (♀ x ♂ and ♂ x ♀), and inheritance mode was determined based on degree of dominance (DO) and effective dominance (D(ML)). In addition, realized heritability (h(2)) was estimated based on a resistant colony, and select pressure was performed for two generations based on the diagnostic dose (10 ng. i. a. /nymph). The F1 progeny of the experimental crosses and the selection were tested by a standard insecticide resistance bioassay. The result for DO and D(ML) (Bolivia. The lethal doses (LD50) increase from one generation to another rapidly after selection pressure with deltamethrin. This suggests that resistance is an additive and cumulative factor, mainly in highly structured populations with limited dispersal capacity, such as T. infestans. This phenomenon was demonstrated for the first time for T. infestans in the present study. These results are very important for vector control strategies in problematic areas where high resistance ratios of T. infestans have been reported.

  20. Markers of immunity and bacterial translocation in cirrhosis

    DEFF Research Database (Denmark)

    Mortensen, Christian

    2015-01-01

    , in 38 patients with ascites, we found no association between bDNA and immunity, in contrast to some previous findings. In the final paper, exploring one possible translocation route, we hypothesized a difference in bDNA levels between the blood from the veins draining the gut on one hand and the liver...... some concepts of current thinking on cirrhosis pathophysiology, including the relationship of markers of inflammation to haemodynamics, disease stage and prognosis. Our results also add to a growing body of evidence suggesting that bDNA is not a clinically relevant marker of BT....

  1. Development of germ-line-specific CRISPR-Cas9 systems to improve the production of heritable gene modifications in Arabidopsis.

    Science.gov (United States)

    Mao, Yanfei; Zhang, Zhengjing; Feng, Zhengyan; Wei, Pengliang; Zhang, Hui; Botella, José Ramón; Zhu, Jian-Kang

    2016-02-01

    The Streptococcus-derived CRISPR/Cas9 system is being widely used to perform targeted gene modifications in plants. This customized endonuclease system has two components, the single-guide RNA (sgRNA) for target DNA recognition and the CRISPR-associated protein 9 (Cas9) for DNA cleavage. Ubiquitously expressed CRISPR/Cas9 systems (UC) generate targeted gene modifications with high efficiency but only those produced in reproductive cells are transmitted to the next generation. We report the design and characterization of a germ-line-specific Cas9 system (GSC) for Arabidopsis gene modification in male gametocytes, constructed using a SPOROCYTELESS (SPL) genomic expression cassette. Four loci in two endogenous genes were targeted by both systems for comparative analysis. Mutations generated by the GSC system were rare in T1 plants but were abundant (30%) in the T2 generation. The vast majority (70%) of the T2 mutant population generated using the UC system were chimeras while the newly developed GSC system produced only 29% chimeras, with 70% of the T2 mutants being heterozygous. Analysis of two loci in the T2 population showed that the abundance of heritable gene mutations was 37% higher in the GSC system compared to the UC system and the level of polymorphism of the mutations was also dramatically increased with the GSC system. Two additional systems based on germ-line-specific promoters (pDD45-GT and pLAT52-GT) were also tested, and one of them was capable of generating heritable homozygous T1 mutant plants. Our results suggest that future application of the described GSC system will facilitate the screening for targeted gene modifications, especially lethal mutations in the T2 population. © 2015 Society for Experimental Biology, Association of Applied Biologists and John Wiley & Sons Ltd.

  2. Heritability estimation in early generations of two-way crosses in soybean

    OpenAIRE

    Marcelo Marchi Costa; Antonio Orlando Di Mauro; Sandra Helena Unêda-Trevisoli; Nair Helena Castro Arriel; Ivana Marino Bárbaro; Gustavo Dias Silveira; Frando Romero Silva Muniz

    2008-01-01

    The estimation of genetic parameters, especially in early generations, is very useful for directing the selection process in breeding programs. The present research was undertaken to estimate heritabilities in the broad sense, narrow sense and using parent-offspring regression in F3 soybean populations from six two-way crosses, originated from the Soybean Breeding Program of Faculdade de Ciências Agrárias e Veterinárias (UNESP), Jaboticabal campus. It was used the family design with common ch...

  3. The Effect of 9/11 on the Heritability of Political Trust.

    Science.gov (United States)

    Ojeda, Christopher

    2016-02-01

    Following the attacks of September 11, 2001, a rally effect led to a precipitous rise in political trust. However, the increase in political trust concealed a simultaneous decline among a smaller portion of the population. This paper examines the psychological mechanisms underlying these heterogeneous attitudes towards government and shows that a biosocial model best explains the observed patterns of response. The interplay of genetic and environmental factors of political trust reveals the stable but dynamic nature of heritability: genetic influences of political trust increased immediately following 9/11 but quickly decayed to pre-9/11 levels.

  4. The Effect of 9/11 on the Heritability of Political Trust1

    Science.gov (United States)

    Ojeda, Christopher

    2014-01-01

    Following the attacks of September 11, 2001, a rally effect led to a precipitous rise in political trust. However, the increase in political trust concealed a simultaneous decline among a smaller portion of the population. This paper examines the psychological mechanisms underlying these heterogeneous attitudes towards government and shows that a biosocial model best explains the observed patterns of response. The interplay of genetic and environmental factors of political trust reveals the stable but dynamic nature of heritability: genetic influences of political trust increased immediately following 9/11 but quickly decayed to pre-9/11 levels. PMID:26843705

  5. Heritability of strabismus: genetic influence is specific to eso-deviation and independent of refractive error.

    Science.gov (United States)

    Sanfilippo, Paul G; Hammond, Christopher J; Staffieri, Sandra E; Kearns, Lisa S; Melissa Liew, S H; Barbour, Julie M; Hewitt, Alex W; Ge, Dongliang; Snieder, Harold; Mackinnon, Jane R; Brown, Shayne A; Lorenz, Birgit; Spector, Tim D; Martin, Nicholas G; Wilmer, Jeremy B; Mackey, David A

    2012-10-01

    Strabismus represents a complex oculomotor disorder characterized by the deviation of one or both eyes and poor vision. A more sophisticated understanding of the genetic liability of strabismus is required to guide searches for associated molecular variants. In this classical twin study of 1,462 twin pairs, we examined the relative influence of genes and environment in comitant strabismus, and the degree to which these influences can be explained by factors in common with refractive error. Participants were examined for the presence of latent ('phoria') and manifest ('tropia') strabismus using cover-uncover and alternate cover tests. Two phenotypes were distinguished: eso-deviation (esophoria and esotropia) and exo-deviation (exophoria and exotropia). Structural equation modeling was subsequently employed to partition the observed phenotypic variation in the twin data into specific variance components. The prevalence of eso-deviation and exo-deviation was 8.6% and 20.7%, respectively. For eso-deviation, the polychoric correlation was significantly greater in monozygotic (MZ) (r = 0.65) compared to dizygotic (DZ) twin pairs (r = 0.33), suggesting a genetic role (p = .003). There was no significant difference in polychoric correlation between MZ (r = 0.55) and DZ twin pairs (r = 0.53) for exo-deviation (p = .86), implying that genetic factors do not play a significant role in the etiology of exo-deviation. The heritability of an eso-deviation was 0.64 (95% CI 0.50-0.75). The additive genetic correlation for eso-deviation and refractive error was 0.13 and the bivariate heritability (i.e., shared variance) was less than 1%, suggesting negligible shared genetic effect. This study documents a substantial heritability of 64% for eso-deviation, yet no corresponding heritability for exo-deviation, suggesting that the genetic contribution to strabismus may be specific to eso-deviation. Future studies are now needed to identify the genes associated with eso-deviation and

  6. Twin study of heritability of eating bread in Danish and Finnish men and women

    DEFF Research Database (Denmark)

    Hasselbalch, Ann Louise; Silventoinen, Karri; Keskitalo, Kaisu

    2010-01-01

    Bread is an elementary part of the western diet, and especially rye bread is regarded as an important source of fibre. We investigated the heritability of eating bread in terms of choice of white and rye bread and use-frequency of bread in female and male twins in Denmark and Finland. The study...... influence on intake of white bread was moderate (24-31%), while the genetic influence on intake of rye bread was higher in men (41-45%) than in women (24-33%). Environmental influences shared by the twins were not significant. Consumption of bread as well as choice of bread is influenced by genetic...

  7. Heritable influence of DBH on adrenergic and renal function: twin and disease studies.

    Directory of Open Access Journals (Sweden)

    Dalal N Pasha

    Full Text Available Elevated sympathetic activity is associated with kidney dysfunction. Here we used twin pairs to probe heritability of GFR and its genetic covariance with other traits.We evaluated renal and adrenergic phenotypes in twins. GFR was estimated by CKD-EPI algorithm. Heritability and genetic covariance of eGFR and associated risk traits were estimated by variance-components. Meta-analysis probed reproducibility of DBH genetic effects. Effect of DBH genetic variation on renal disease was tested in the NIDDK-AASK cohort.Norepinephrine secretion rose across eGFR tertiles while eGFR fell (p<0.0001. eGFR was heritable, at h(2 = 67.3±4.7% (p = 3.0E-18, as were secretion of norepinephrine (h(2 = 66.5±5.0%, p = 3.2E-16 and dopamine (h(2 = 56.5±5.6%, p = 1.8E-13, and eGFR displayed genetic co-determination (covariance with norepinephrine (ρG = -0.557±0.088, p = 1.11E-08 as well as dopamine (ρG = -0.223±0.101, p = 2.3E-02. Since dopamine β-hydroxylase (DBH catalyzes conversion of dopamine to norepinephrine, we studied functional variation at DBH; DBH promoter haplotypes predicted transcriptional activity (p<0.001, plasma DBH (p<0.0001 and norepinephrine (p = 0.0297 secretion; transcriptional activity was inversely (p<0.0001 associated with basal eGFR. Meta-analysis validated DBH haplotype effects on eGFR across 3 samples. In NIDDK-AASK, we established a role for DBH promoter variation in long-term renal decline rate (GFR slope, p = 0.003.The heritable GFR trait shares genetic determination with catecholamines, suggesting new pathophysiologic, diagnostic and therapeutic approaches towards disorders of GFR as well as CKD. Adrenergic activity may play a role in progressive renal decline, and genetic variation at DBH may assist in profiling subjects for rational preventive treatment.

  8. A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis

    NARCIS (Netherlands)

    C.G. Bouwkamp (Christian); A.J.A. Kievit (Anneke J.A.); S. Olgiati (Simone); G.J. Breedveld (Guido); M.P.H. Coesmans (Michiel); V. Bonifati (Vincenzo); S.A. Kushner (Steven)

    2016-01-01

    textabstractAffective psychoses are a group of severe psychiatric disorders, including schizoaffective disorder and bipolar I disorder, together affecting ∼1% of the population. Despite their high heritability, the molecular genetics and neurobiology of affective psychosis remain largely elusive.

  9. Microbial translocation and microbiome dysbiosis in HIV-associated immune activation.

    Science.gov (United States)

    Zevin, Alexander S; McKinnon, Lyle; Burgener, Adam; Klatt, Nichole R

    2016-03-01

    This article describes the mechanisms and consequences of both microbial translocation and microbial dysbiosis in HIV infection. Microbes in HIV are likely playing a large role in contributing to HIV pathogenesis, morbidities and mortality. Two major disruptions to microbial systems in HIV infection include microbial translocation and microbiome dysbiosis. Microbial translocation occurs when the bacteria (or bacterial products) that should be in the lumen of the intestine translocate across the tight epithelial barrier into systemic circulation, where they contribute to inflammation and pathogenesis. This is associated with poorer health outcomes in HIV-infected individuals. In addition, microbial populations in the gastrointestinal tract are also altered after HIV infection, resulting in microbiome dysbiosis, which further exacerbates microbial translocation, epithelial barrier disruption, inflammation and mucosal immune functioning. Altered microbial regulation in HIV infection can lead to poor health outcomes, and understanding the mechanisms underlying microbial dysbiosis and translocation may result in novel pathways for therapeutic interventions.

  10. Use of chromosome translocations for measuring prior environment exposures in humans

    Energy Technology Data Exchange (ETDEWEB)

    Tucker, J. D.

    1997-05-01

    Recent advances in cytogenetic methodology are beginning to have a major impact upon our ability to provide assessments of environmental exposure in humans. The advent of fluorescent-based techniques for `painting` whole chromosomes has made the analysis of chromosome translocations rapid, specific, sensitive and routine. Chromosome painting has been used to address a wide variety of scientific questions, resulting in an increased understanding of the biological consequences of adverse environmental exposure. This paper describes the use of chromosome translocations as a biological marker of exposure and effect in humans. The relevance of translocations is discussed, as are the advantages and disadvantages of painting compared to classical cytogenetic methods for translocation evaluation. The factors to consider in the use of translocations as a retrospective indicator of exposure are then described. Several theoretical parameters that are important to the use of translocations are provided, and the paper concludes with a vision for the future of cytogenetic methodology.

  11. Heritability of naevus patterns in an adult twin cohort from the Brisbane Twin Registry: a cross-sectional study.

    Science.gov (United States)

    Lee, S; Duffy, D L; McClenahan, P; Lee, K J; McEniery, E; Burke, B; Jagirdar, K; Martin, N G; Sturm, R A; Soyer, H P; Schaider, H

    2016-02-01

    Heritability of naevi counts is widely acknowledged as a potential surveillance parameter for prevention purposes. The contribution of heritability to the changes seen in naevus number and morphology over time and their corresponding dermoscopic characteristics is unknown, but is important to understand in order to account for adequate prevention measures. To identify naevus characteristics that are strongly influenced by heritability. This cross-sectional study included 220 individuals [76 monozygotic (MZ), 144 dizygotic (DZ)], recruited from the Brisbane Twin Naevus Study. Participants received full body imaging and dermoscopy of naevi ≥ 5 mm in diameter. Dermoscopic type, total naevus count (TNC), change in TNC with age, and naevus distribution, size, colour and profile were compared between MZ and DZ twins. Heritability of these traits was assessed via Falconer's estimate. Significant differences were found in comparing MZ and DZ twins for TNC, numbers of naevi 5·0-7·9 mm in diameter, counts of light-brown naevi, naevi on the back and sun-protected sites, and naevi with the 'nonspecific' dermoscopic pattern. This study strongly supports a heritable component to TNC, as well as changes in TNC, and the number of medium-sized naevi, light-brown naevi, specific sites and certain dermoscopic features in adults. These characteristics should be taken into account by naevus surveillance programmes and further studied to identify candidate gene associations for clinical and dermoscopic patterns in conjunction with melanoma risk stratification. © 2015 British Association of Dermatologists.

  12. Heritabilities and genetic correlations between fetlock, hock and stifle osteochondrosis and fetlock osteochondral fragments in Hanoverian Warmblood horses.

    Science.gov (United States)

    Hilla, D; Distl, O

    2014-02-01

    The main objective of this study is to estimate genetic parameters for osteochondrosis (OC) and osteochondrosis dissecans (OCD) in fetlock, hock and stifle joints as well as for palmar or plantar osteochondral fragments (POFs) and dorsodistal osteochondral fragments (DOFs) in fetlock joints. For this purpose, the results of a standardized radiographic examination of 7396 Hanoverian Warmblood horses were used. Heritabilities and genetic correlations were estimated using residual maximum likelihood (REML) under a linear animal model. Heritability estimates for OC at the different joints were at 0.17-0.34, for OCD at 0.16-0.46, for POFs at 0.19 and for DOFs at 0.22 after transformation onto the liability scale. For osteochondral fragments (OFs), lower heritabilities were estimated, especially in fetlock joints. POFs were genetically negatively correlated with OC in each joint. The size of the heritability estimates indicates that the prevalence of these radiographic findings can be reduced by breeding measures. However, differentiation among the different clinical entities is crucial to avoid underestimation of heritabilities. The analysis of genetic parameters performed in this study indicates that OC and OCD in fetlock, OC and OCD in hock, OC and OCD in stifle joints, POFs of the hindlimbs and DOFs may be treated as different traits. © 2013 Blackwell Verlag GmbH.

  13. Impact of family structure and common environment on heritability estimation for neuroimaging genetics studies using Sequential Oligogenic Linkage Analysis Routines.

    Science.gov (United States)

    Koran, Mary Ellen; Thornton-Wells, Tricia A; Jahanshad, Neda; Glahn, David C; Thompson, Paul M; Blangero, John; Nichols, Thomas E; Kochunov, Peter; Landman, Bennett A

    2014-06-27

    Imaging genetics is an emerging methodological field that combines genetic information with medical imaging-derived metrics to understand how genetic factors impact observable phenotypes. In order for a trait to be a reasonable phenotype in an imaging genetics study, it must be heritable: at least some proportion of its variance must be due to genetic influences. The Sequential Oligogenic Linkage Analysis Routines (SOLAR) imaging genetics software can estimate the heritability of a trait in complex pedigrees. We investigate the ability of SOLAR to accurately estimate heritability and common environmental effects on simulated imaging phenotypes in various family structures. We found that heritability is reliably estimated with small family-based studies of 40 to 80 individuals, though subtle differences remain between the family structures. In an imaging application analysis, we found that with 80 subjects in any of the family structures, estimated heritability of white matter fractional anisotropy was biased by <10% for every region of interest. Results from these studies can be used when investigators are evaluating power in planning genetic analyzes.

  14. Heritability, parental transmission and environment correlation of pediatric-onset type 2 diabetes mellitus and metabolic syndrome-related traits.

    Science.gov (United States)

    Miranda-Lora, América L; Vilchis-Gil, Jenny; Molina-Díaz, Mario; Flores-Huerta, Samuel; Klünder-Klünder, Miguel

    2017-04-01

    To estimate the heritability, parental transmission and environmental contributions to the phenotypic variation in type 2 diabetes mellitus and metabolic syndrome-related traits in families of Mexican children and adolescents. We performed a cross-sectional study of 184 tri-generational pedigrees with a total of 1160 individuals (99 families with a type 2 diabetes mellitus proband before age 19). The family history of type 2 diabetes mellitus in three generations was obtained by interview. Demographic, anthropometric, biochemical and lifestyle information was corroborated in parents and offspring. We obtained correlations for metabolic traits between relative pairs, and variance component methods were used to determine the heritability and environmental components. The heritability of early-onset of type 2 diabetes mellitus was 0.50 (p0.50) for blood pressure, HbA1c and HDL-cholesterol after multivariate adjustment (pdiabetes mellitus and insulin resistance, were significantly correlated only through the mother and others, such as hypertriglyceridemia, were significantly correlated only through the father. This study demonstrates that type 2 diabetes mellitus and metabolic syndrome-related traits are highly heritable among Mexican children and adolescents. Furthermore, several cardiometabolic factors have strong heritability and/or high environmental contributions that highlight the complex architecture of these alterations. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. Heritability and phenotypic variation of canine hip dysplasia radiographic traits in a cohort of Australian German shepherd dogs.

    Directory of Open Access Journals (Sweden)

    Bethany J Wilson

    Full Text Available Canine Hip Dysplasia (CHD is a common, painful and debilitating orthopaedic disorder of dogs with a partly genetic, multifactorial aetiology. Worldwide, potential breeding dogs are evaluated for CHD using radiographically based screening schemes such as the nine ordinally-scored British Veterinary Association Hip Traits (BVAHTs. The effectiveness of selective breeding based on screening results requires that a significant proportion of the phenotypic variation is caused by the presence of favourable alleles segregating in the population. This proportion, heritability, was measured in a cohort of 13,124 Australian German Shepherd Dogs born between 1976 and 2005, displaying phenotypic variation for BVAHTs, using ordinal, linear and binary mixed models fitted by a Restricted Maximum Likelihood method. Heritability estimates for the nine BVAHTs ranged from 0.14-0.24 (ordinal models, 0.14-0.25 (linear models and 0.12-0.40 (binary models. Heritability for the summed BVAHT phenotype was 0.30 ± 0.02. The presence of heritable variation demonstrates that selection based on BVAHTs has the potential to improve BVAHT scores in the population. Assuming a genetic correlation between BVAHT scores and CHD-related pain and dysfunction, the welfare of Australian German Shepherds can be improved by continuing to consider BVAHT scores in the selection of breeding dogs, but that as heritability values are only moderate in magnitude the accuracy, and effectiveness, of selection could be improved by the use of Estimated Breeding Values in preference to solely phenotype based selection of breeding animals.

  16. Heritability and phenotypic variation of canine hip dysplasia radiographic traits in a cohort of Australian German shepherd dogs.

    Science.gov (United States)

    Wilson, Bethany J; Nicholas, Frank W; James, John W; Wade, Claire M; Tammen, Imke; Raadsma, Herman W; Castle, Kao; Thomson, Peter C

    2012-01-01

    Canine Hip Dysplasia (CHD) is a common, painful and debilitating orthopaedic disorder of dogs with a partly genetic, multifactorial aetiology. Worldwide, potential breeding dogs are evaluated for CHD using radiographically based screening schemes such as the nine ordinally-scored British Veterinary Association Hip Traits (BVAHTs). The effectiveness of selective breeding based on screening results requires that a significant proportion of the phenotypic variation is caused by the presence of favourable alleles segregating in the population. This proportion, heritability, was measured in a cohort of 13,124 Australian German Shepherd Dogs born between 1976 and 2005, displaying phenotypic variation for BVAHTs, using ordinal, linear and binary mixed models fitted by a Restricted Maximum Likelihood method. Heritability estimates for the nine BVAHTs ranged from 0.14-0.24 (ordinal models), 0.14-0.25 (linear models) and 0.12-0.40 (binary models). Heritability for the summed BVAHT phenotype was 0.30 ± 0.02. The presence of heritable variation demonstrates that selection based on BVAHTs has the potential to improve BVAHT scores in the population. Assuming a genetic correlation between BVAHT scores and CHD-related pain and dysfunction, the welfare of Australian German Shepherds can be improved by continuing to consider BVAHT scores in the selection of breeding dogs, but that as heritability values are only moderate in magnitude the accuracy, and effectiveness, of selection could be improved by the use of Estimated Breeding Values in preference to solely phenotype based selection of breeding animals.

  17. Insulin-induced translocation of IR to the nucleus in insulin responsive cells requires a nuclear translocation sequence.

    Science.gov (United States)

    Kesten, Dov; Horovitz-Fried, Miriam; Brutman-Barazani, Tamar; Sampson, Sanford R

    2018-04-01

    Insulin binding to its cell surface receptor (IR) activates a cascade of events leading to its biological effects. The Insulin-IR complex is rapidly internalized and then is either recycled back to the plasma membrane or sent to lysosomes for degradation. Although most of the receptor is recycled or degraded, a small amount may escape this pathway and migrate to the nucleus of the cell where it might be important in promulgation of receptor signals. In this study we explored the mechanism by which insulin induces IR translocation to the cell nucleus. Experiments were performed cultured L6 myoblasts, AML liver cells and 3T3-L1 adipocytes. Insulin treatment induced a rapid increase in nuclear IR protein levels within 2 to 5 min. Treatment with WGA, an inhibitor of nuclear import, reduced insulin-induced increases nuclear IR protein; IR was, however, translocated to a perinuclear location. Bioinformatics tools predicted a potential nuclear localization sequence (NLS) on IR. Immunofluorescence staining showed that a point mutation on the predicted NLS blocked insulin-induced IR nuclear translocation. In addition, blockade of nuclear IR activation in isolated nuclei by an IR blocking antibody abrogated insulin-induced increases in IR tyrosine phosphorylation and nuclear PKCδ levels. Furthermore, over expression of mutated IR reduced insulin-induced glucose uptake and PKB phosphorylation. When added to isolated nuclei, insulin induced IR phosphorylation but had no effect on nuclear IR protein levels. These results raise questions regarding the possible role of nuclear IR in IR signaling and insulin resistance. Copyright © 2018 Elsevier B.V. All rights reserved.

  18. The absorption and translocation of imazaquin in green manures

    Directory of Open Access Journals (Sweden)

    Flavia Garcia Florido

    2014-07-01

    Full Text Available Green manure species that are tolerant to the herbicide imazaquin can be used in crop rotation schemes that aim to reduce herbicide carryover to sensitive plants such as sunflower or corn. Three different doses of imazaquin (0, 0.15 and 0.28 kgha-1 were applied during the pre-emergence growth stage to Dolichos lablab, Cajanus cajan, Canavalia ensiformis, Crotalaria juncea, C. breviflora, C. spectabilis, Mucuna deeringiana, M. cinerea, M. aterrima, Lupinus albus, Helianthus annuus, Pennisetum glaucum, Avena strigosa and Raphanus sativus, and the results were evaluated in a greenhouse. C. ensiformis and M. cinerea were selected from these species for being the most tolerant, and they were then evaluated for absorption and translocation of 14C-imazaquin in two different growth stages: the cotyledonary stage and the emergence of the first pair of true leaves. M. cinerea individuals showed the best potential for translocating imazaquin to the shoot when compared to C. ensiformes, which accumulated the herbicide mostly in its roots. These plants had a higher ability to accumulate herbicide during their most advanced stage of development, which demonstrates their potential for use in areas that have residual imazaquin.

  19. Pore formation by T3SS translocators: liposome leakage assay.

    Science.gov (United States)

    Faudry, Eric; Perdu, Caroline; Attrée, Ina

    2013-01-01

    Gram-negative bacteria utilize a dedicated membrane-embedded apparatus, the type III secretion system (T3SS), to inject proteins into host cells. The passage of the proteins across the target membrane is accomplished by a proteinaceous pore-the translocon-formed within the host-cell cytoplasmic membrane. Translocators bound to their chaperones can be expressed in Escherichia coli and subsequently dissociated from the chaperone by guanidine treatment. The pore formation properties of the translocators can then be studied by an in-vitro liposome leakage assay. Sulforhodamine-B is encapsulated within lipid vesicles during liposome preparation. At high concentration, this fluorochrome exhibits self-quenching limiting fluorescence emission. Upon pore formation, liposome leakage leads to the dilution of Sulforhodamine-B in the medium and fluorescence emission increases. Alternatively, fluorochromes coupled to large dextran molecules can be encapsulated in order to estimate pore dimensions. Here we describe protein expression and purification, dye-liposome preparation, and leakage assay conditions.

  20. Translocation of the neonicotinoid seed treatment clothianidin in maize.

    Science.gov (United States)

    Alford, Adam; Krupke, Christian H

    2017-01-01

    Neonicotinoid seed treatments, typically clothianidin or thiamethoxam, are routinely applied to >80% of maize (corn) seed grown in North America where they are marketed as a targeted pesticide delivery system. Despite this widespread use, the amount of compound translocated into plant tissue from the initial seed treatment to provide protection has not been reported. Our two year field study compared concentrations of clothianidin seed treatments in maize to that of maize without neonicotinoid seed treatments and found neonicotinoids present in root tissues up to 34 days post planting. Plant-bound clothianidin concentrations followed an exponential decay pattern with initially high values followed by a rapid decrease within the first ~20 days post planting. A maximum of 1.34% of the initial seed treatment was successfully recovered from plant tissues in both study years and a maximum of 0.26% was recovered from root tissue. Our findings show neonicotinoid seed treatments may provide protection from some early season secondary maize pests. However, the proportion of the neonicotinoid seed treatment clothianidin translocated into plant tissues throughout the growing season is low overall and this observation may provide a mechanism to explain reports of inconsistent efficacy of this pest management approach and increasing detections of environmental neonicotinoids.