Nature or Nurture? Heritability in the Classroom.

Science.gov (United States)

Hiramatsu, Layla; Garland, Theodore

Understanding evolution is a necessary component of undergraduate education in biology, and evolution is difficult to explain without studying the heritability of traits. However, in most classes, heritability is presented with only a handful of graphs showing typical morphological traits, for example, beak size in finches and height in humans. The active-inquiry exercise outlined in the following pages allows instructors to engage students in this formerly dry subject by bringing their own data as the basis for estimates of heritability. Students are challenged to come up with their own hypotheses regarding how and to what extent their traits are inherited from their parents and then gather, analyze data, and make inferences with help from the instructor. The exercise is simple in concept and execution but uncovers many new avenues of inquiry for students, including potential biases in their estimates of heritability and misconceptions that they may have had about the extent of inference that can be made from their heritability estimates. The active-inquiry format of the exercise prioritizes curiosity and discussion, leading to a much deeper understanding of heritability and the scientific method.

Volumetric mammographic density: heritability and association with breast cancer susceptibility loci.

Science.gov (United States)

Brand, Judith S; Humphreys, Keith; Thompson, Deborah J; Li, Jingmei; Eriksson, Mikael; Hall, Per; Czene, Kamila

2014-12-01

Mammographic density is a strong heritable trait, but data on its genetic component are limited to area-based and qualitative measures. We studied the heritability of volumetric mammographic density ascertained by a fully-automated method and the association with breast cancer susceptibility loci. Heritability of volumetric mammographic density was estimated with a variance component model in a sib-pair sample (N pairs = 955) of a Swedish screening based cohort. Associations with 82 established breast cancer loci were assessed in an independent sample of the same cohort (N = 4025 unrelated women) using linear models, adjusting for age, body mass index, and menopausal status. All tests were two-sided, except for heritability analyses where one-sided tests were used. After multivariable adjustment, heritability estimates (standard error) for percent dense volume, absolute dense volume, and absolute nondense volume were 0.63 (0.06) and 0.43 (0.06) and 0.61 (0.06), respectively (all P associated with rs10995190 (ZNF365; P = 9.0 × 10(-6) and 8.9 × 10(-7), respectively) and rs9485372 (TAB2; P = 1.8 × 10(-5) and 1.8 × 10(-3), respectively). We also observed associations of rs9383938 (ESR1) and rs2046210 (ESR1) with the absolute dense volume (P = 2.6 × 10(-4) and 4.6 × 10(-4), respectively), and rs6001930 (MLK1) and rs17356907 (NTN4) with the absolute nondense volume (P = 6.7 × 10(-6) and 8.4 × 10(-5), respectively). Our results support the high heritability of mammographic density, though estimates are weaker for absolute than percent dense volume. We also demonstrate that the shared genetic component with breast cancer is not restricted to dense tissues only. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

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....

The genomic-level heritabilities of preparedness and plasticity in human life history: the strategic differentiation and integration of genetic transmissibilities

Directory of Open Access Journals (Sweden)

Michael Anthony Woodley of Menie

2015-04-01

Full Text Available The Continuous Parameter Estimation Model is applied to develop individual genomic-level heritabilities for the latent hierarchical structure and developmental dynamics of Life History (LH strategy LH strategies relate to the allocations of bioenergetic resources into different domains of fitness. LH has moderate to high population-level heritability in humans, both at the level of the high-order Super-K Factor and the lower-order factors, the K-Factor, Covitality Factor, and General Factor of Personality (GFP. Several important questions remain unexplored. We developed measures of genome-level heritabilities employing an American sample of 316 monozygotic (MZ and 274 dizygotic (DZ twin dyads and a Swedish sample of 863 MZ and 475 DZ twin dyads. This novel heritability index measures individual genetic transmissibility, therefore opening new avenues for analyzing complex interactions among heritable traits inaccessible to standard structural equations methods. For these samples: (1 moderate to high heritability of factor loadings of Super-K on its lower-order factors is demonstrated, evidencing biological preparedness, genetic accommodation, and the gene-culture coevolution of biased epigenetic rules of development; (2 moderate to high heritability of the magnitudes of the effect of the higher-order factors upon their loadings on their constituent factors, evidencing genetic constraints upon phenotypic plasticity; and (3 that heritability of the LH factors, of factor loadings, and of the magnitudes of the correlations among factors are weaker among those with slower LH speeds, demonstrating that inter-individual variation in transmissibility is a function of individual socioecological selection pressures.

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.

Heritability of clubfoot

DEFF Research Database (Denmark)

Engell, Vilhelm; Nielsen, Jan; Damborg, Frank

2014-01-01

INTRODUCTION: The aetiology of congenital clubfoot is unclear. Although studies on populations, families, and twins suggest a genetic component to the aetiology, other studies have identified environmental factors. The purpose of this study was to calculate heritability in order to determine...... based on a balance of goodness-of-fit and parsimony and to estimate heritability. RESULTS: We found an overall self-reported prevalence of congenital clubfoot of 0.0027 (95 % confidence interval 0.0022-0.0034). Fifty-five complete (both twins answered the question) twin pairs were identified...... representing 12 monozygotic, 22 same-sex dizygotic, 18 opposite-sex dizygotic, and 3 with unclassified zygosity. The model with only environmental factors (CE) was best fitting based on AIC, and the model with an additive genetic factor (ACE) came in second. Due to the small statistical power, we hypothesise...

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...

Familial aggregation and heritability of pyloric stenosis

DEFF Research Database (Denmark)

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

2010-01-01

stenosis from monozygotic twins to fourth-generation relatives according to sex and maternal and paternal contributions and to estimate disease heritability. DESIGN, SETTING, AND PATIENTS: Population-based cohort study of 1,999,738 children born in Denmark between 1977 and 2008 and followed up.......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%. CONCLUSION: Pyloric stenosis in Danish children shows strong...... familial aggregation and heritability....

Estimating Heritability from Nuclear Family and Pedigree Data.

Science.gov (United States)

Bochud, Murielle

2017-01-01

Heritability is a measure of familial resemblance. Estimating the heritability of a trait could be one of the first steps in the gene mapping process. This chapter describes how to estimate heritability for quantitative traits from nuclear and pedigree data using the ASSOC program in the Statistical Analysis in Genetic Epidemiology (S.A.G.E.) software package. Estimating heritability rests on the assumption that the total phenotypic variance of a quantitative trait can be partitioned into independent genetic and environmental components. In turn, the genetic variance can be divided into an additive (polygenic) genetic variance, a dominance variance (nonlinear interaction effects between alleles at the same locus) and an epistatic variance (interaction effects between alleles at different loci). The last two are often assumed to be zero. The additive genetic variance represents the average effects of individual alleles on the phenotype and reflects transmissible resemblance between relatives. Heritability in the narrow sense (h 2 ) refers to the ratio of the additive genetic variance to the total phenotypic variance. Heritability is a dimensionless population-specific parameter. ASSOC estimates association parameters (regression coefficients) and variance components from family data. ASSOC uses a linear regression model in which the total residual variance is partitioned, after regressing on covariates, into the sum of random components such as an additive polygenic component, a random sibship component, random nuclear family components, a random marital component, and an individual-specific random component. Assortative mating, nonrandom ascertainment of families, and failure to account for key confounding factors may bias heritability estimates.

Heritability of food preferences in young children.

Science.gov (United States)

Breen, Fiona M; Plomin, Robert; Wardle, Jane

2006-07-30

There is persisting interest in the idea that taste preferences are heritable characteristics, but few twin studies have found evidence for a significant genetic component. Small sample sizes and idiosyncratic selection of foods may have contributed to the negative results. We hypothesized that using a larger twin sample and empirical groupings of food types, would give stronger evidence for the heritability of food preferences. We examined the heritability of preferences for four food groups in a sample of young twins. We administered a food preference questionnaire with 95 foods to 214 mothers of same-sex twin pairs (103 monozygotic and 111 dizygotic pairs) aged 4 to 5. 18 foods were excluded because they had been tried by fewer than 25% of the children. Foods were grouped into 'Vegetables', 'Fruits', 'Desserts' and 'Meat and Fish' on the basis of a factor analysis of the preference data. Genetic analyses were carried out on mean liking across these four groups, using model fitting techniques. Over all 77 foods, MZ correlations were higher than DZ correlations for 72 of them, with a higher mean MZ correlation (r = 0.76) than DZ correlation (r = 0.56). Using model fitting techniques with the factor scores, significant heritability estimates were obtained for all four food groups. Heritability was modest for dessert foods (0.20), moderate for vegetables (0.37) and fruits (0.51), and high for liking for protein foods (0.78). Shared environmental effects were strong for desserts, fruits and vegetables, while non-shared environmental influences were low for all four food groups. These results provide strong evidence for modest heritability of food preferences when using empirically-derived groupings of foods.

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.

Heritability of Susceptibility to Ionizing Radiation-Induced Apoptosis of Human Lymphocyte Subpopulations

International Nuclear Information System (INIS)

Schmitz, Annette; Bayer, Jan; Dechamps, Nathalie; Goldin, Lynn; Thomas, Gilles

2007-01-01

Purpose: To evaluate the heritability of intrinsic radiosensitivity, the induction of apoptosis in lymphocyte subpopulations was determined on samples from related individuals belonging to large kindred families. Methods and Materials: Quiescent lymphocytes from 334 healthy individuals were gamma-irradiated in vitro. Apoptosis was determined 18 h after irradiation by eight-color flow cytometry. Radiosensitivity was quantified from dose-effect curves. Intrafamilial correlations and heritability were computed for 199 father-mother-offspring trios using the programs SOLAR (Sequential Oligogenic Linkage Analysis Routines) and SAGE (Statistical Analysis for Genetic Epidemiology). Segregation analyses were conducted using SAGE. Results: Marked differential susceptibility of naive and memory T lymphocytes was demonstrated. Also, although age and gender were significant covariates, their effects only accounted for a minor part of the inter-individual variation. Parent-offspring and sib-sib correlations were significant for the radiosensitivity of B cells, T4, and T8 and of effector memory T4 and T8 subpopulations. In the T4-effector memory subpopulation, the phenotype showed correlations most consistent with dominant or additive genetic effects, and the results of the segregation analysis were consistent with the contribution of a bi-allelic dominant locus. Conclusions: Heritability was demonstrated for the susceptibility to ionizing radiation-induced apoptosis of lymphocyte populations, and the segregation of the T4-effector memory radiosensitivity phenotype was consistent with a simple mendelian transmission model involving one major gene

Heritability of non-HLA genetics in coeliac disease : a population-based study in 107 000 twins

NARCIS (Netherlands)

Kuja-Halkola, Ralf; Lebwohl, Benjamin; Halfvarson, Jonas; Wijmenga, Cisca; Magnusson, Patrik K. E.; Ludvigsson, Jonas F.

2016-01-01

Background and objective Almost 100% individuals with coeliac disease (CD) are carriers of the human leucocyte antigen (HLA) DQ2/DQ8 alleles. Earlier studies have, however, failed to consider the HLA system when estimating heritability in CD, thus violating an underlying assumption of heritability

Heritability of lifetime ecstasy use.

Science.gov (United States)

Verweij, Karin J H; Treur, Jorien L; Vreeker, Annabel; Brunt, Tibor M; Willemsen, Gonneke; Boomsma, Dorret I; Vink, Jacqueline M

2017-09-01

Ecstasy is a widely used psychoactive drug that users often take because they experience positive effects such as increased euphoria, sociability, elevated mood, and heightened sensations. Ecstasy use is not harmless and several immediate and long term side effects have been identified. Lifetime ecstasy use is likely to be partly influenced by genetic factors, but no twin study has determined the heritability. Here, we apply a classical twin design to a large sample of twins and siblings to estimate the heritability of lifetime ecstasy use. The sample comprised 8500 twins and siblings aged between 18 and 45 years from 5402 families registered at the Netherlands Twin Registry. In 2013-2014 participants filled out a questionnaire including a question whether they had ever used ecstasy. We used the classical twin design to partition the individual differences in liability to ecstasy use into that due to genetic, shared environmental, and residual components. Overall, 10.4% of the sample had used ecstasy during their lifetime, with a somewhat higher prevalence in males than females. Twin modelling indicated that individual differences in liability to lifetime ecstasy use are for 74% due to genetic differences between individuals, whereas shared environmental and residual factors explain a small proportion of its liability (5% and 21%, respectively). Although heritability estimates appeared to be higher for females than males, this difference was not significant. Lifetime ecstasy use is a highly heritable trait, which indicates that some people are genetically more vulnerable to start using ecstasy than others. Copyright © 2017. Published by Elsevier B.V.

Heritable symbiosis: The advantages and perils of an evolutionary rabbit hole.

Science.gov (United States)

Bennett, Gordon M; Moran, Nancy A

2015-08-18

Many eukaryotes have obligate associations with microorganisms that are transmitted directly between generations. A model for heritable symbiosis is the association of aphids, a clade of sap-feeding insects, and Buchnera aphidicola, a gammaproteobacterium that colonized an aphid ancestor 150 million years ago and persists in almost all 5,000 aphid species. Symbiont acquisition enables evolutionary and ecological expansion; aphids are one of many insect groups that would not exist without heritable symbiosis. Receiving less attention are potential negative ramifications of symbiotic alliances. In the short run, symbionts impose metabolic costs. Over evolutionary time, hosts evolve dependence beyond the original benefits of the symbiosis. Symbiotic partners enter into an evolutionary spiral that leads to irreversible codependence and associated risks. Host adaptations to symbiosis (e.g., immune-system modification) may impose vulnerabilities. Symbiont genomes also continuously accumulate deleterious mutations, limiting their beneficial contributions and environmental tolerance. Finally, the fitness interests of obligate heritable symbionts are distinct from those of their hosts, leading to selfish tendencies. Thus, genes underlying the host-symbiont interface are predicted to follow a coevolutionary arms race, as observed for genes governing host-pathogen interactions. On the macroevolutionary scale, the rapid evolution of interacting symbiont and host genes is predicted to accelerate host speciation rates by generating genetic incompatibilities. However, degeneration of symbiont genomes may ultimately limit the ecological range of host species, potentially increasing extinction risk. Recent results for the aphid-Buchnera symbiosis and related systems illustrate that, whereas heritable symbiosis can expand ecological range and spur diversification, it also presents potential perils.

Heritability of menopausal age in mothers and daughters

NARCIS (Netherlands)

van Asselt, Kristel M.; Kok, Helen S.; Pearson, Peter L.; Dubas, Judith S.; Peeters, Petra H. M.; te Velde, Egbert R.; van Noord, Paulus A. H.

2004-01-01

Objective: To determine the heritability of age at natural menopause from mother-daughter pairs. Design: Two-generation families were selected to study heritability of menopausal age. Setting: Subjects were drawn from a population-based study. Patient(s): One hundred sixty-four mother-daughter pairs

Heritability studies of yield and yield associated traits in bread wheat

International Nuclear Information System (INIS)

Laghari, K.A.; Sial, M.A.; Arain, M.A.; Mirbahar, A.A.; Pirzada, A.; Mancrio, S.M.; Dahot, M.U.

2010-01-01

Heritability studies provide valid information about the traits that are transmitted from parents to offspring and also to the successive generations. Such studies help plant breeders to predict a successful cross with high heritability transmission to the progeny and thus are useful in the incorporation of characters into the offspring. Heritability study was conducted in F5 segregating generation of a cross between HT5 (female) and HT 37 (male) of bread wheat. The genetic parameters calculated were genetic variance (Vg,), environmental variance (Ve) and heritability percentage in broad sense (h2%), genetic advance (GA) and heritability coefficient (H). The highest heritability was observed for spike length (79.3%), number of grains per spike (54.5%) and main spike yield (69.5%) associated with high genetic advance (2.8, 22.8 and 1.5 respectively). Moderate to high heritability were recorded for peduncle length (48.75%) and number of grains per spikelet (47.2%) which associated with high genetic advance (2.3 and 0.68 respectively). However awn length and plant height had shown acceptable heritability values. The present finding suggests that most of the yield associated traits have been successfully transmitted. The information generated will be helpful for better understanding and selection of suitable, desirable material especially in advance generations. (author)

Heritability of optic disc diameters: a twin study

DEFF Research Database (Denmark)

Drobnjak, Dragana; Taarnhøj, Nina Charlotte; Mitchell, Paul

2011-01-01

, additive genetic factors (i.e. heritability) explained 77% (95% CI: 65-85%) of variation of vertical disc diameters, whereas estimated unshared environmental effect was 23% (95% CI: 15-35%). For vertical cup diameters, heritability accounted for 70% (95% CI: 55-80%) and environmental factors 30% (95% CI...

On the nature and nurture of intelligence and specific cognitive abilities: the more heritable, the more culture dependent.

Science.gov (United States)

Kan, Kees-Jan; Wicherts, Jelte M; Dolan, Conor V; van der Maas, Han L J

2013-12-01

To further knowledge concerning the nature and nurture of intelligence, we scrutinized how heritability coefficients vary across specific cognitive abilities both theoretically and empirically. Data from 23 twin studies (combined N = 7,852) showed that (a) in adult samples, culture-loaded subtests tend to demonstrate greater heritability coefficients than do culture-reduced subtests; and (b) in samples of both adults and children, a subtest's proportion of variance shared with general intelligence is a function of its cultural load. These findings require an explanation because they do not follow from mainstream theories of intelligence. The findings are consistent with our hypothesis that heritability coefficients differ across cognitive abilities as a result of differences in the contribution of genotype-environment covariance. The counterintuitive finding that the most heritable abilities are the most culture-dependent abilities sheds a new light on the long-standing nature-nurture debate of intelligence.

Enzyme-linked immunosorbent assay characterization of basal variation and heritability of systemic microfibrillar-associated protein 4.

Directory of Open Access Journals (Sweden)

Susanne Gjørup Sækmose

Full Text Available BACKGROUND: Microfibrillar-associated protein 4 (MFAP4 is a systemic biomarker that is significantly elevated in samples from patients suffering from hepatic cirrhosis. The protein is generally localized to elastic fibers and other connective tissue fibers in the extracellular matrix (ECM, and variation in systemic MFAP4 (sMFAP4 has the potential to reflect diverse diseases with increased ECM turnover. Here, we aimed to validate an enzyme-linked immunosorbent assay (ELISA for the measurement of sMFAP4 with an emphasis on the robustness of the assay. Moreover, we aimed to determine confounders influencing the basal sMFAP4 variability and the genetic contribution to the basal variation. METHODS: The sandwich ELISA was based on two monoclonal anti-MFAP4 antibodies and was optimized and calibrated with a standard of recombinant MFAP4. The importance of pre-analytical sample handling was evaluated regarding sample tube type, time, and temperature conditions. The mean value structure and variance structure was determined in a twin cohort including 1,417 Danish twins (age 18-67 years by mixed-effect linear regression modeling. RESULTS: The practical working range of the sandwich ELISA was estimated to be 4-75 U/ml. The maximum intra- and inter-assay variation was estimated to be 8.7% and 6.6%, respectively. Sample handling and processing appeared to influence MFAP4 measurements only marginally. The average concentration of sMFAP4 in the serum was 18.9 ± 8.4 (SD U/ml in the twin cohort (95% CI: 18.5-19.4, median sMFAP4 17.3 U/ml. The mean structure model was demonstrated to include waist-hip ratio, age, and cigarette smoking status in interactions with gender. A relatively low heritability of h(2 = 0.24 was found after applying a model including additive genetic factors and shared and non-shared environmental factors. CONCLUSIONS: The described ELISA provides robust measures of the liver fibrosis marker sMFAP4. The low heritability and the relatively

Review Genetic prediction models and heritability estimates for ...

African Journals Online (AJOL)

edward

2015-05-09

May 9, 2015 ... Heritability estimates for functional longevity have been expressed on an original or a logarithmic scale with PH models. Ducrocq & Casella (1996) defined heritability on a logarithmic scale and modified under simulation to incorporate the tri-gamma function (γ) as used by Sasaki et al. (2012) and Terawaki ...

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

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.; Vietan, Cassandra; Wilhelmsen, Kirk C.

2009-01-01

The present study evaluated the heritability of personality traits and psychopathology symptoms assessed by the Minnesota Multiphasic Personality Interview 2nd edition (MMPI-2) in a family-based sample selected for alcohol dependence. Participants included 950 probands and 1204 first-degree relatives recruited for the UCSF Family Alcoholism Study. Heritability estimates (h2) for MMPI-2 scales ranged from .25–.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, scales measuring antisocial behavior (ASP), depressive symptoms (DEP), and addictive behavior (MAC-R) led to moderate increases in the heritability of alcohol dependence. This suggests that the ASP, DEP, and MAC-R scales may explain some of the non-genetic variance in the alcohol dependence diagnosis in this population when utilized as covariates, and thus may serve to produce a more homogeneous and heritable alcohol dependence phenotype. PMID:20390702

Heritability of specific language impairment depends on diagnostic criteria.

Science.gov (United States)

Bishop, D V M; Hayiou-Thomas, M E

2008-04-01

Heritability estimates for specific language impairment (SLI) have been inconsistent. Four twin studies reported heritability of 0.5 or more, but a recent report from the Twins Early Development Study found negligible genetic influence in 4-year-olds. We considered whether the method of ascertainment influenced results and found substantially higher heritability if SLI was defined in terms of referral to speech and language pathology services than if defined by language test scores. Further analysis showed that presence of speech difficulties played a major role in determining whether a child had contact with services. Childhood language disorders that are identified by population screening are likely to have a different phenotype and different etiology from clinically referred cases. Genetic studies are more likely to find high heritability if they focus on cases who have speech difficulties and who have been referred for intervention.

Heritability of face shape in twins: a preliminary study using 3D stereophotogrammetry and geometric morphometrics

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Seth M. Weinberg

2013-11-01

Full Text Available Introduction: Previous research suggests that aspects of facial surface morphology are heritable.  Traditionally, heritability studies have used a limited set of linear distances to quantify facial morphology and often employ statistical methods poorly designed to deal with biological shape.  In this preliminary report, we use a combination of 3D photogrammetry and landmark-based morphometrics to explore which aspects of face shape show the strongest evidence of heritability in a sample of twins. Methods: 3D surface images were obtained from 21 twin pairs (10 monozygotic, 11 same-sex dizygotic.  Thirteen 3D landmarks were collected from each facial surface and their coordinates subjected to geometric morphometric analysis.  This involved superimposing the individual landmark configurations and then subjecting the resulting shape coordinates to a principal components analysis.  The resulting PC scores were then used to calculate rough narrow-sense heritability estimates. Results: Three principal components displayed evidence of moderate to high heritability and were associated with variation in the breadth of orbital and nasal structures, upper lip height and projection, and the vertical and forward projection of the root of the nose due to variation in the position of nasion. Conclusions: Aspects of facial shape, primarily related to variation in length and breadth of central midfacial structures, were shown to demonstrate evidence of strong heritability. An improved understanding of which facial features are under strong genetic control is an important step in the identification of specific genes that underlie normal facial variation.

The Human Microbiome and the Missing Heritability Problem

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Santiago Sandoval-Motta

2017-06-01

Full Text Available The “missing heritability” problem states that genetic variants in Genome-Wide Association Studies (GWAS cannot completely explain the heritability of complex traits. Traditionally, the heritability of a phenotype is measured through familial studies using twins, siblings and other close relatives, making assumptions on the genetic similarities between them. When this heritability is compared to the one obtained through GWAS for the same traits, a substantial gap between both measurements arise with genome wide studies reporting significantly smaller values. Several mechanisms for this “missing heritability” have been proposed, such as epigenetics, epistasis, and sequencing depth. However, none of them are able to fully account for this gap in heritability. In this paper we provide evidence that suggests that in order for the phenotypic heritability of human traits to be broadly understood and accounted for, the compositional and functional diversity of the human microbiome must be taken into account. This hypothesis is based on several observations: (A The composition of the human microbiome is associated with many important traits, including obesity, cancer, and neurological disorders. (B Our microbiome encodes a second genome with nearly a 100 times more genes than the human genome, and this second genome may act as a rich source of genetic variation and phenotypic plasticity. (C Human genotypes interact with the composition and structure of our microbiome, but cannot by themselves explain microbial variation. (D Microbial genetic composition can be strongly influenced by the host's behavior, its environment or by vertical and horizontal transmissions from other hosts. Therefore, genetic similarities assumed in familial studies may cause overestimations of heritability values. We also propose a method that allows the compositional and functional diversity of our microbiome to be incorporated to genome wide association studies.

Heritability of Radiation Response in Lung Cancer Families

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H.-Erich Wichmann

2012-03-01

Full Text Available Radiation sensitivity is assumed to be a cancer susceptibility factor due to impaired DNA damage signalling and repair. Relevant genetic factors may also determine the observed familial aggregation of early onset lung cancer. We investigated the heritability of radiation sensitivity in families of 177 Caucasian cases of early onset lung cancer. In total 798 individuals were characterized for their radiation-induced DNA damage response. DNA damage analysis was performed by alkaline comet assay before and after in vitro irradiation of isolated lymphocytes. The cells were exposed to a dose of 4 Gy and allowed to repair induced DNA-damage up to 60 minutes. The primary outcome parameter Olive Tail Moment was the basis for heritability estimates. Heritability was highest for basal damage (without irradiation 70% (95%-CI: 51%–88% and initial damage (directly after irradiation 65% (95%-CI: 47%–83% and decreased to 20%–48% for the residual damage after different repair times. Hence our study supports the hypothesis that genomic instability represented by the basal DNA damage as well as radiation induced and repaired damage is highly heritable. Genes influencing genome instability and DNA repair are therefore of major interest for the etiology of lung cancer in the young. The comet assay represents a proper tool to investigate heritability of the radiation sensitive phenotype. Our results are in good agreement with other mutagen sensitivity assays.

8Wambi heritability.pmd

African Journals Online (AJOL)

ACSS

Cultural, biological and chemical control measures have received limited ... as a percentage of the mean (GAM) and heritability were estimated using variance components. ... présente étude a été conduite afin de déterminer l'héritabilité de la ...

Efficient and Heritable Gene Targeting in Tilapia by CRISPR/Cas9

Science.gov (United States)

Li, Minghui; Yang, Huihui; Zhao, Jiue; Fang, Lingling; Shi, Hongjuan; Li, Mengru; Sun, Yunlv; Zhang, Xianbo; Jiang, Dongneng; Zhou, Linyan; Wang, Deshou

2014-01-01

Studies of gene function in non-model animals have been limited by the approaches available for eliminating gene function. The CRISPR/Cas9 (clustered regularly interspaced short palindromic repeats/CRISPR associated) system has recently become a powerful tool for targeted genome editing. Here, we report the use of the CRISPR/Cas9 system to disrupt selected genes, including nanos2, nanos3, dmrt1, and foxl2, with efficiencies as high as 95%. In addition, mutations in dmrt1 and foxl2 induced by CRISPR/Cas9 were efficiently transmitted through the germline to F1. Obvious phenotypes were observed in the G0 generation after mutation of germ cell or somatic cell-specific genes. For example, loss of Nanos2 and Nanos3 in XY and XX fish resulted in germ cell-deficient gonads as demonstrated by GFP labeling and Vasa staining, respectively, while masculinization of somatic cells in both XY and XX gonads was demonstrated by Dmrt1 and Cyp11b2 immunohistochemistry and by up-regulation of serum androgen levels. Our data demonstrate that targeted, heritable gene editing can be achieved in tilapia, providing a convenient and effective approach for generating loss-of-function mutants. Furthermore, our study shows the utility of the CRISPR/Cas9 system for genetic engineering in non-model species like tilapia and potentially in many other teleost species. PMID:24709635

Heritability of tic disorders: a twin-family study.

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Zilhão, N R; Olthof, M C; Smit, D J A; Cath, D C; Ligthart, L; Mathews, C A; Delucchi, K; Boomsma, D I; Dolan, C V

2017-04-01

Genetic-epidemiological studies that estimate the contributions of genetic factors to variation in tic symptoms are scarce. We estimated the extent to which genetic and environmental influences contribute to tics, employing various phenotypic definitions ranging between mild and severe symptomatology, in a large population-based adult twin-family sample. In an extended twin-family design, we analysed lifetime tic data reported by adult mono- and dizygotic twins (n = 8323) and their family members (n = 7164; parents and siblings) from 7311 families in the Netherlands Twin Register. We measured tics by the abbreviated version of the Schedule for Tourette and Other Behavioral Syndromes. Heritability was estimated by genetic structural equation modeling for four tic disorder definitions: three dichotomous and one trichotomous phenotype, characterized by increasingly strictly defined criteria. Prevalence rates of the different tic disorders in our sample varied between 0.3 and 4.5% depending on tic disorder definition. Tic frequencies decreased with increasing age. Heritability estimates varied between 0.25 and 0.37, depending on phenotypic definitions. None of the phenotypes showed evidence of assortative mating, effects of shared environment or non-additive genetic effects. Heritabilities of mild and severe tic phenotypes were estimated to be moderate. Overlapping confidence intervals of the heritability estimates suggest overlapping genetic liabilities between the various tic phenotypes. The most lenient phenotype (defined only by tic characteristics, excluding criteria B, C and D of DSM-IV) rendered sufficiently reliable heritability estimates. These findings have implications in phenotypic definitions for future genetic studies.

Heritable genome editing with CRISPR/Cas9 in the silkworm, Bombyx mori.

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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.

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...

Heritability of Retinal Vascular Fractals

DEFF Research Database (Denmark)

Vergmann, Anna Stage; Broe, Rebecca; Kessel, Line

2017-01-01

Purpose: To determine the genetic contribution to the pattern of retinal vascular branching expressed by its fractal dimension. Methods: This was a cross-sectional study of 50 monozygotic and 49 dizygotic, same-sex twin pairs aged 20 to 46 years. In 50°, disc-centered fundus photographs, the reti...... fractal dimension did not differ statistically significantly between monozygotic and dizygotic twin pairs (1.505 vs. 1.495, P = 0.06), supporting that the study population was suitable for quantitative analysis of heritability. The intrapair correlation was markedly higher (0.505, P = 0.......0002) in monozygotic twins than in dizygotic twins (0.108, P = 0.46), corresponding to a heritability h2 for the fractal dimension of 0.79. In quantitative genetic models, dominant genetic effects explained 54% of the variation and 46% was individually environmentally determined. Conclusions: In young adult twins...

High heritability of liability to abdominal aortic aneurysms

DEFF Research Database (Denmark)

Mejnert Jørgensen, Trine; Christensen, Kaare; Lindholt, Jes Sanddal

2016-01-01

of genetic and environmental factors can be assessed by comparing concordance rates between monozygotic (MZ) and dizygotic (DZ) twins. Higher phenotypic similarity between MZ than DZ twins indicates a genetic attribution to the etiology. The objective of this study was to investigate the heritability of AAA...... among Danish twins using concordance rates and heritability estimates. METHODS: The Danish Twin Registry was used to identify all Danish twin pairs (born 1880-1971) where both twins were alive on January 1, 1977. AAA cases were then identified using the National Patient Registry and the Registry...... of Cause of Death. Probandwise concordance rates were calculated and heritability estimated using structural equation modeling. RESULTS: The study identified 414 twins with AAA; 69.8% (289/414) were men and 30.2% (125/414) women. The probandwise concordance rate in MZ twins was 30% (95% CI 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

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...... predisposition. Environmental factors shared by the co-twins (e.g., childhood environment) seem to have no significant effects on bread consumption and preference in adulthood.......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...

Heritability, parental transmission and environment correlation of pediatric-onset type 2 diabetes mellitus and metabolic syndrome-related traits.

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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 (p1.0e-7). The heritability was greater than 0.5 for hypertension, hypoalphalipoproteinemia, hypercholesterolemia, body mass index, waist circumference, blood pressure, 2-h insulin, and cholesterol (p1). In contrast, we observed a high environmental correlation (>0.50) for blood pressure, HbA1c and HDL-cholesterol after multivariate adjustment (ptype 2 diabetes 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.

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

Comparison of the heritability of schizophrenia and endophenotypes in the COGS-1 family study.

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Light, Gregory; Greenwood, Tiffany A; Swerdlow, Neal R; Calkins, Monica E; Freedman, Robert; Green, Michael F; Gur, Raquel E; Gur, Ruben C; Lazzeroni, Laura C; Nuechterlein, Keith H; Olincy, Ann; Radant, Allen D; Seidman, Larry J; Siever, Larry J; Silverman, Jeremy M; Sprock, Joyce; Stone, William S; Sugar, Catherine A; Tsuang, Debby W; Tsuang, Ming T; Turetsky, Bruce I; Braff, David L

2014-11-01

Twin and multiplex family studies have established significant heritability for schizophrenia (SZ), often summarized as 81%. The Consortium on the Genetics of Schizophrenia (COGS-1) family study was designed to deconstruct the genetic architecture of SZ using neurocognitive and neurophysiological endophenotypes, for which heritability estimates ranged from 18% to 50% (mean = 30%). This study assessed the heritability of SZ in these families to determine whether there is a "heritability gap" between the diagnosis and related endophenotypes. Nuclear families (N = 296) with a SZ proband, an unaffected sibling, and both parents (n = 1366 subjects; mean family size = 4.6) underwent comprehensive endophenotype and clinical characterization. The Family Interview for Genetic Studies was administered to all participants and used to obtain convergent psychiatric symptom information for additional first-degree relatives of interviewed subjects (N = 3304 subjects; mean family size = 11.2). Heritability estimates of psychotic disorders were computed for both nuclear and extended families. The heritability of SZ was 31% and 44% for nuclear and extended families. The inclusion of bipolar disorder increased the heritability to 37% for the nuclear families. When major depression was added, heritability estimates dropped to 34% and 20% for nuclear and extended families, respectively. Endophenotypes and psychotic disorders exhibit comparable levels of heritability in the COGS-1 family sample. The ascertainment of families with discordant sibpairs to increase endophenotypic contrast may underestimate diagnostic heritability relative to other studies. However, population-based studies also report significantly lower heritability estimates for SZ. Collectively, these findings support the importance of endophenotype-based strategies and the dimensional view of psychosis. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center 2014.

Heritability of cortisol response to confinement stress in European sea bass dicentrarchus labrax

NARCIS (Netherlands)

Volckaert, F.A.M.; Hellemans, B.; Batargias, C.; Louro, B.; Massault, C.; Houdt, Van J.K.J.; Haley, C.; Koning, de D.J.; Canario, A.V.M.

2012-01-01

Background: In fish, the most studied production traits in terms of heritability are body weight or growth, stress or disease resistance, while heritability of cortisol levels, widely used as a measure of response to stress, is less studied. In this study, we have estimated heritabilities of two

Heritability of decisions and outcomes of public goods games

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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.

Group differences in the heritability of items and test scores

NARCIS (Netherlands)

Wicherts, J.M.; Johnson, W.

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

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

Science.gov (United States)

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

2015-06-01

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. This study aimed at specifically investigating heritabilities of tic symptom factors in a relatively large sample of TS patients and family members. Lifetime tic symptom data were collected in 494 diagnosed individuals in two cohorts of TS patients from the USA (n=273) and the Netherlands (n=221), and in 351 Dutch family members. Item-level factor analysis, using a tetrachoric correlation matrix in SAS (v9.2), was carried out on 23 tic symptoms from the Yale Global Tic Severity Scale. Three factors were identified explaining 49% of the total variance: factor 1, complex vocal tics and obscene behaviour; factor 2, body tics; and factor 3, head/neck tics. Using Sequential Oligogenic Linkage Analysis Routine, moderate heritabilities were found for factor 1 (h2r=0.21) and factor 3 (h2r=0.25). Lower heritability was found for overall tic severity (h2r=0.19). Bivariate analyses indicated no genetic associations between tic factors. These findings suggest that (i) three tic factors can be discerned with a distinct underlying genetic architecture and that (ii) considering the low tic heritabilities found, only focusing on the narrow-sense TS phenotype and leaving out comorbidities that are part of the broader sense tic phenotype may lead to missing heritability. Although these findings need replication in larger independent samples, they might have consequences for future genetic studies in TS.

Heritability of young- and old-onset ischaemic stroke.

Science.gov (United States)

Bluher, A; Devan, W J; Holliday, E G; Nalls, M; Parolo, S; Bione, S; Giese, A K; Boncoraglio, G B; Maguire, J M; Müller-Nurasyid, M; Gieger, C; Meschia, J F; Rosand, J; Rolfs, A; Kittner, S J; Mitchell, B D; O'Connell, J R; Cheng, Y C

2015-11-01

Although the genetic contribution to stroke risk is well known, it remains unclear if young-onset stroke has a stronger genetic contribution than old-onset stroke. This study aims to compare the heritability of ischaemic stroke risk between young and old, using common genetic variants from whole-genome array data in population-based samples. This analysis included 4050 ischaemic stroke cases and 5765 controls from six study populations of European ancestry; 47% of cases were young-onset stroke (age stroke risk in these unrelated individuals, the pairwise genetic relatedness was estimated between individuals based on their whole-genome array data using a mixed linear model. Heritability was estimated separately for young-onset stroke and old-onset stroke (age ≥ 55 years). Heritabilities for young-onset stroke and old-onset stroke were estimated at 42% (±8%, P genetic contribution to the risk of stroke may be higher in young-onset ischaemic stroke, although the difference was not statistically significant. © 2015 EAN.

Heritable temperament pathways to early callous–unemotional behaviour

Science.gov (United States)

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

2016-01-01

Background Early callous–unemotional behaviours identify children at risk for antisocial behaviour. Recent work suggests that the high heritability of callous–unemotional behaviours is qualified by interactions with positive parenting. Aims To examine whether heritable temperament dimensions of fearlessness and low affiliative behaviour are associated with early callous–unemotional behaviours and whether parenting moderates these associations. Method Using an adoption sample (n = 561), we examined pathways from biological mother self-reported fearlessness and affiliative behaviour to child callous–unemotional behaviours via observed child fearlessness and affiliative behaviour, and whether adoptive parent observed positive parenting moderated pathways. Results Biological mother fearlessness predicted child callous–unemotional behaviours via earlier child fearlessness. Biological mother low affiliative behaviour predicted child callous–unemotional behaviours, although not via child affiliative behaviours. Adoptive mother positive parenting moderated the fearlessness to callous–unemotional behaviour pathway. Conclusions Heritable fearlessness and low interpersonal affiliation traits contribute to the development of callous–unemotional behaviours. Positive parenting can buffer these risky pathways. PMID:27765772

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.

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.

Heritability of antibody isotype and subclass responses to Plasmodium falciparum antigens.

Directory of Open Access Journals (Sweden)

Nancy O Duah

2009-10-01

Full Text Available It is important to understand the extent to which genetic factors regulate acquired immunity to common infections. A classical twin study design is useful to estimate the heritable component of variation in measurable immune parameters.This study assessed the relative heritability of different plasma antibody isotypes and subclasses (IgG1, IgG2, IgG3, IgG4, IgM, IgA and IgE naturally acquired to P. falciparum blood stage antigens AMA1, MSP1-19, MSP2 (two allelic types and MSP3 (two allelic types. Separate analyses were performed on plasma from 213 pairs of Gambian adult twins, 199 child twin pairs sampled in a dry season when there was little malaria transmission, and another set of 107 child twin pairs sampled at the end of the annual wet season when malaria was common. There were significantly positive heritability (h(2 estimates for 48% (20/42 of the specific antibody assays (for the seven isotypes and subclasses to the six antigens tested among the adults, 48% (20/42 among the children in the dry season and 31% (13/42 among the children in the wet season. In children, there were significant heritability estimates for IgG4 reactivity against each of the antigens, and this subclass had higher heritability than the other subclasses and isotypes. In adults, 75% (15/20 of the significantly heritable antigen-specific isotype responses were attributable to non-HLA class II genetic variation, whereas none showed a significant HLA contribution.Genome-wide approaches are now warranted to map the major genetic determinants of variable antibody isotype and subclass responses to malaria, alongside evaluation of their impact on infection and disease. Although plasma levels of IgG4 to malaria antigens are generally low, the exceptionally high heritability of levels of this subclass in children deserves particular investigation.

Heritability of retinal vascular fractals: a twin study

DEFF Research Database (Denmark)

Vergmann, Anna Stage; Broe, Rebecca; Kessel, Line

. The retinal vascular fractal dimension was measured using the box-counting method and compared within monozygotic and dizygotic twin pairs using Pearson correlation coefficents. Falconer´s formula and quantitative genetic models were used to determine the genetic component of variation. Results: The retinal...... for quantitative analysis of heritability. The intrapair correlation was markedly higher (0.505, p=0.0002) in monozygotic twins than in dizygotic twins (0.108, p=0.46), corresponding to a heritability h2 for the fractal dimension of 0.79. In quantitative genetic models, 54% of the variation was explained...

H2DB: a heritability database across multiple species by annotating trait-associated genomic loci.

Science.gov (United States)

Kaminuma, Eli; Fujisawa, Takatomo; Tanizawa, Yasuhiro; Sakamoto, Naoko; Kurata, Nori; Shimizu, Tokurou; Nakamura, Yasukazu

2013-01-01

H2DB (http://tga.nig.ac.jp/h2db/), an annotation database of genetic heritability estimates for humans and other species, has been developed as a knowledge database to connect trait-associated genomic loci. Heritability estimates have been investigated for individual species, particularly in human twin studies and plant/animal breeding studies. However, there appears to be no comprehensive heritability database for both humans and other species. Here, we introduce an annotation database for genetic heritabilities of various species that was annotated by manually curating online public resources in PUBMED abstracts and journal contents. The proposed heritability database contains attribute information for trait descriptions, experimental conditions, trait-associated genomic loci and broad- and narrow-sense heritability specifications. Annotated trait-associated genomic loci, for which most are single-nucleotide polymorphisms derived from genome-wide association studies, may be valuable resources for experimental scientists. In addition, we assigned phenotype ontologies to the annotated traits for the purposes of discussing heritability distributions based on phenotypic classifications.

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...... individuals. We show that LTL is shorter in older individuals, and in males, and has a high heritability (overall h(2) = 0.54). In the offspring generation, who are in middle-life, we find an ordinal relationship: persons more-closely-related to elderly probands have longer LTL than persons less...

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

Heritability of methane emissions from dairy cows over a lactation measured on commercial farms.

Science.gov (United States)

Pszczola, M; Rzewuska, K; Mucha, S; Strabel, T

2017-11-01

Methane emission is currently an important trait in studies on ruminants due to its environmental and economic impact. Recent studies were based on short-time measurements on individual cows. As methane emission is a longitudinal trait, it is important to investigate its changes over a full lactation. In this study, we aimed to estimate the heritability of the estimated methane emissions from dairy cows using Fourier-transform infrared spectroscopy during milking in an automated milking system by implementing the random regression method. The methane measurements were taken on 485 Polish Holstein-Friesian cows at 2 commercial farms located in western Poland. The overall daily estimated methane emission was 279 g/d. Genetic variance fluctuated over the course of lactation around the average level of 1,509 (g/d), with the highest level, 1,866 (g/d), at the end of the lactation. The permanent environment variance values started at 2,865 (g/d) and then dropped to around 846 (g/d) at 100 d in milk (DIM) to reach the level of 2,444 (g/d) at the end of lactation. The residual variance was estimated at 2,620 (g/d). The average repeatability was 0.25. The heritability level fluctuated over the course of lactation, starting at 0.23 (SE 0.12) and then increasing to its maximum value of 0.3 (SE 0.08) at 212 DIM and ending at the level of 0.27 (SE 0.12). Average heritability was 0.27 (average SE 0.09). We have shown that estimated methane emission is a heritable trait and that the heritability level changes over the course of lactation. The observed changes and low genetic correlations between distant DIM suggest that it may be important to consider the period in which methane phenotypes are collected.

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

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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

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

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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.

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...

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...... of additive genetics and unique environment. All variables had considerable genetic components. Adjusted heritability estimates were: TpTe 46%, Tamp lead V1 34%, Tamp lead V5 47%, RR interval 55%, QT interval 67% and QTcB 42%. CONCLUSIONS: -RR interval, QT-interval, T-wave amplitude and Tpeak-Tend interval...

heritability analysis of putative drought adaptation traits

African Journals Online (AJOL)

ACSS

2014-02-11

Feb 11, 2014 ... College of Agricultural and Environmental Sciences, School of Agricultural ... effects is most appropriate for drought tolerance improvement in sweetpotato. ..... GCA, SCA mean squares and heritability values for the various ...

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.

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.

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.

Heritability and social brood effects on personality in juvenile and adult life-history stages in a wild passerine.

Science.gov (United States)

Winney, I S; Schroeder, J; Nakagawa, S; Hsu, Y-H; Simons, M J P; Sánchez-Tójar, A; Mannarelli, M-E; Burke, T

2018-01-01

How has evolution led to the variation in behavioural phenotypes (personalities) in a population? Knowledge of whether personality is heritable, and to what degree it is influenced by the social environment, is crucial to understanding its evolutionary significance, yet few estimates are available from natural populations. We tracked three behavioural traits during different life-history stages in a pedigreed population of wild house sparrows. Using a quantitative genetic approach, we demonstrated heritability in adult exploration, and in nestling activity after accounting for fixed effects, but not in adult boldness. We did not detect maternal effects on any traits, but we did detect a social brood effect on nestling activity. Boldness, exploration and nestling activity in this population did not form a behavioural syndrome, suggesting that selection could act independently on these behavioural traits in this species, although we found no consistent support for phenotypic selection on these traits. Our work shows that repeatable behaviours can vary in their heritability and that social context influences personality traits. Future efforts could separate whether personality traits differ in heritability because they have served specific functional roles in the evolution of the phenotype or because our concept of personality and the stability of behaviour needs to be revised. © 2017 European Society For Evolutionary Biology. Journal of Evolutionary Biology © 2017 European Society For Evolutionary Biology.

Selection and estimation of the heritability of sunflower (Helianthus annuus) pollen collection behavior in Apis mellifera colonies.

Science.gov (United States)

Basualdo, M; Rodríguez, E M; Bedascarrasbure, E; De Jong, D

2007-06-20

We selected honey bee colonies (Apis mellifera L.) with a high tendency to collect sunflower pollen and estimated the heritability of this trait. The percentage of sunflower pollen collected by 74 colonies was evaluated. Five colonies that collected the highest percentages of sunflower pollen were selected. Nineteen colonies headed by daughters of these selected queens were evaluated for this characteristic in comparison with 20 control (unselected) colonies. The variation for the proportion of sunflower pollen was greater among colonies of the control group than among these selected daughter colonies. The estimated heritability was 0.26 +/- 0.23, demonstrating that selection to increase sunflower pollen collection is feasible. Such selected colonies could be used to improve sunflower pollination in commercial fields.

Low Cognitive Functioning in Nondemented 80+-Year-Old Twins Is Not Heritable.

Science.gov (United States)

Petrill, Stephen A.; Johansson, Boo; Pedersen, Nancy L.; Berg, Stig; Plomin, Robert; Ahern, Frank; McClearn, Gerald E.

2001-01-01

Studied the genetic influence of low cognitive functioning in 200 pairs of twins aged at least 80 years and identified as not demented. Results suggest that the heritability of low cognitive functioning in this group was nonsignificant, but above-average cognitive functioning shows substantial group heritability. (SLD)

The heritable effects of nanotoxicity.

Science.gov (United States)

Tortiglione, Claudia

2014-12-01

The widespread entry of nanomaterials into manifold life fields posed serious concerns on environmental health and safety issues. Potential adverse effects of nanoparticles (NPs) are continuously faced using in vitro cell systems and by mean of cell and molecular biology tools, several mechanisms have been found beyond their toxicity. The evaluation of the in vivo possible consequences derived from exposure of living organisms to NPs is instead more complex but compulsory in view of their application for diagnosis or therapeutic purposes. Here the effects of NP-induced genetic alteration on the progeny of treated animals will be treated, considering selected species from invertebrate and vertebrates as examples of transgenerational transmission of NP toxicity. The effects on reproductive capability, fertility and embryogenesis observed in different animal species upon treatment with different materials will provide an overview of the current knowledge on the heritable feature of nanotoxicity.

Heritability studies for seed quality traits in introgressed segregating populations of brassica

International Nuclear Information System (INIS)

Farhatullah, S.; Nasim, A.; Fayyaz, L.

2014-01-01

Estimation of genetic parameters in the context of trait characterization is an essential component of future targeted crop improvement programs. Collection of knowledge about genetic behavior such as genetic variability and heritability etc., of the germplasm is the basic step for initiation of any breeding program. Genetic variability and Broad sense heritability for various seed quality traits in 10 brassica genotypes and their 12 F2 progenies comprising of introgressed hybrids were studied. The genotypes had highly significant variation for oil content, protein, glucosinolates contents, oleic, linolenic and erucic acid contents. Glucosinolates content and erucic acid showed high heritability in all F2 populations, while rest of the traits showed variable trends. The cross combination 547 x 118 (B. napus x B. campestris) proved to be a good interspecific hybrid that had high proportion of introgression and has high heritability for beneficial traits. The individual plants having combination of desirable traits were also identified from the F2 populations. (author)

Genetic variability and heritability estimates of some polygenic traits in upland cotton

International Nuclear Information System (INIS)

Baloch, M.J.

2004-01-01

Plant breeders are more interested in genetic variance rather than phenotypic variance because it is amenable to selection and bring further improvement in the character. Twenty-eight F/sub 2/ progenies were tested in two environments so as to predict genetic variances, heritability estimates and genetic gains. Mean squares for locations were significant for all the five traits suggesting that genotypes performed differently under varying environments. Genetic variances, in most cases, however, were about equal to that of phenotypic variances consequently giving high heritability estimates and significant genetic gains. The broad sense heritability estimates were; 94.2, 92.9, 33.6, 81.9 and 86.9% and genetic gains were; 30.19, 10.55,0.20,0.89 and 1.76 in seed cotton yield, bolls per plant, lint %, fibre length and fibre uniformity ratio, respectively. Substantial genetic variances and high heritability estimates implied that these characters could be improved through selection from segregating populations. (author)

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.

Functional heterogeneity and heritability in CHO cell populations.

Science.gov (United States)

Davies, Sarah L; Lovelady, Clare S; Grainger, Rhian K; Racher, Andrew J; Young, Robert J; James, David C

2013-01-01

In this study, we address the hypothesis that it is possible to exploit genetic/functional variation in parental Chinese hamster ovary (CHO) cell populations to isolate clonal derivatives that exhibit superior, heritable attributes for biomanufacturing--new parental cell lines which are inherently more "fit for purpose." One-hundred and ninety-nine CHOK1SV clones were isolated from a donor CHOK1SV parental population by limiting dilution cloning and microplate image analysis, followed by primary analysis of variation in cell-specific proliferation rate during extended deep-well microplate suspension culture of individual clones to accelerate genetic drift in isolated cultures. A subset of 100 clones were comparatively evaluated for transient production of a recombinant monoclonal antibody (Mab) and green fluorescent protein following transfection of a plasmid vector encoding both genes. The heritability of both cell-specific proliferation rate and Mab production was further assessed using a subset of 23 clones varying in functional capability that were subjected to cell culture regimes involving both cryopreservation and extended sub-culture. These data showed that whilst differences in transient Mab production capability were not heritable per se, clones exhibiting heritable variation in specific proliferation rate, endocytotic transfectability and N-glycan processing were identified. Finally, for clonal populations most "evolved" by extended sub-culture in vitro we investigated the relationship between cellular protein biomass content, specific proliferation rate and cell surface N-glycosylation. Rapid-specific proliferation rate was inversely correlated to CHO cell size and protein content, and positively correlated to cell surface glycan content, although substantial clone-specific variation in ability to accumulate cell biomass was evident. Taken together, our data reveal the dynamic nature of the CHO cell functional genome and the potential to evolve and

Estimating the Broad-Sense Heritability of Early Growth of Cowpea

OpenAIRE

Xu, Nicole W.; Xu, Shizhong; Ehlers, Jeff

2009-01-01

Cowpea is an important tropical crop. It provides a large proportion of the food resource for the African human population and their livestock. The yield and quality of cowpea have been dramatically improved through traditional breeding strategies for the past few decades. However, reports of heritability estimates for early growth of cowpea are rare. We designed a simple experiment to estimate the broad-sense heritability of early growth. We randomly selected 15 cowpea varieties among a tota...

Heritability of myopia and ocular biometrics in Koreans: the healthy twin study.

Science.gov (United States)

Kim, Myung Hun; Zhao, Di; Kim, Woori; Lim, Dong-Hui; Song, Yun-Mi; Guallar, Eliseo; Cho, Juhee; Sung, Joohon; Chung, Eui-Sang; Chung, Tae-Young

2013-05-01

To estimate the heritabilities of myopia and ocular biometrics among different family types among a Korean population. We studied 1508 adults in the Healthy Twin Study. Spherical equivalent, axial length, anterior chamber depth, and corneal astigmatism were measured by refraction, corneal topography, and A-scan ultrasonography. To see the degree of resemblance among different types of family relationships, intraclass correlation coefficients (ICC) were calculated. Variance-component methods were applied to estimate the genetic contributions to eye phenotypes as heritability based on the maximum likelihood estimation. Narrow sense heritability was calculated as the proportion of the total phenotypic variance explained by additive genetic effects, and linear and nonlinear effects of age, sex, and interactions between age and sex were adjusted. A total of 240 monozygotic twin pairs, 45 dizygotic twin pairs, and 938 singleton adult family members who were first-degree relatives of twins in 345 families were included in the study. ICCs for spherical equivalent from monozygotic twins, pooled first-degree pairs, and spouse pairs were 0.83, 0.34, and 0.20, respectively. The ICCs of other ocular biometrics were also significantly higher in monozygotic twins compared with other relative pairs, with greater consistency and conformity. The estimated narrow sense heritability (95% confidence interval) was 0.78 (0.71-0.84) for spherical equivalent; 0.86 (0.82-0.90) for axial length; 0.83 (0.76-0.91) for anterior chamber depth; and 0.70 (0.63-0.77) for corneal astigmatism. The estimated heritability of spherical equivalent and ocular biometrics in the Korean population suggests the compelling evidence that all traits are highly heritable.

The heritability of avoidant and dependent personality disorder assessed by personal interview and questionnaire.

Science.gov (United States)

Gjerde, L C; Czajkowski, N; Røysamb, E; Orstavik, R E; Knudsen, G P; Ostby, K; Torgersen, S; Myers, J; Kendler, K S; Reichborn-Kjennerud, T

2012-12-01

Personality disorders (PDs) have been shown to be modestly heritable. Accurate heritability estimates are, however, dependent on reliable measurement methods, as measurement error deflates heritability. The aim of this study was to estimate the heritability of DSM-IV avoidant and dependent personality disorder, by including two measures of the PDs at two time points. Data were obtained from a population-based cohort of young adult Norwegian twins, of whom 8045 had completed a self-report questionnaire assessing PD traits. 2794 of these twins subsequently underwent a structured diagnostic interview for DSM-IV PDs. Questionnaire items predicting interview results were selected by multiple regression, and measurement models of the PDs were fitted in Mx. The heritabilities of the PD factors were 0.64 for avoidant PD and 0.66 for dependent PD. No evidence of common environment, that is, environmental factors that are shared between twins and make them similar, was found. Genetic and environmental contributions to avoidant and dependent PD seemed to be the same across sexes. The combination of both a questionnaire- and an interview assessment of avoidant and dependent PD results in substantially higher heritabilities than previously found using single-occasion interviews only. © 2012 John Wiley & Sons A/S.

Comparison of behaviors for detection of heritable mutations.

Science.gov (United States)

Ficsor, G; Goldner, L; Panda, B B

1988-01-01

Groups of five male HA (ICR) mice were injected intraperitoneally with 60, 150, 300, or 600 mg/kg body weight of ethyl methanesulfonate (EMS) or with saline vehicle. Each male was mated to two untreated females at 2 and 5 weeks after treatment. The two successive matings utilized sperm derived from post- and pre-meiotic germ cells, respectively. Progeny were evaluated for litter size, body weight, negative geotactic response, swimming patterns, limb use while swimming, water escape time, and open-field motor coordination activity. Body weight, geotactic response, limb use, and open-field behavior test results demonstrated that EMS causes heritable behavior mutations in both post- and pre-meiotic germ cells. Among the tests that showed inherited differences between control and treated groups, the computer-monitored open-field behavior test was the most definitive.

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...... conducted to determine whether the sex differences in heritability of NP are due to sex-specific genetic factors. Data on lifetime prevalence of NP from a population-based cross-sectional survey of 33,794 Danish twins were collected and age-stratified univariate biometrical modeling using sex......-limitation models was performed based on 10,605 dizygotic (DZ) twins of opposite sex to estimate the qualitative sex differences. In a full sex-limitation model the genetic component in females were higher than in males, but the genetic and the shared environmental correlations were equal to what is normally...

Heritable Variation in Quinone-Induced Haustorium Development in the Parasitic Plant Triphysaria1

Science.gov (United States)

Jamison, Denneal S.; Yoder, John I.

2001-01-01

We are using the facultative hemiparasite, Triphysaria, as a model for studying host-parasite signaling in the Scrophulariaceae. Parasitic members of this family form subterranean connections, or haustoria, on neighboring host roots to access host water and nutrients. These parasitic organs develop in response to haustorial-inducing factors contained in host root exudates. A well-characterized inducing factor, 2, 6-dimethoxy-p-benzoquinone (DMBQ), can be used to trigger in vitro haustorium formation in the roots of Triphysaria. We have assayed three species, Triphysaria eriantha (Benth.) Chuang and Heckard, Triphysaria pusilla (Benth.) Chuang and Heckard, and Triphysaria versicolor Fischer and C. Meyer, for haustorium development in response to DMBQ. There were significant differences between the species in their ability to recognize and respond to this quinone. Ninety percent of T. versicolor individuals responded, whereas only 40% of T. pusilla and less than 10% of T. eriantha formed haustoria. Within field collections of self-pollinating T. pusilla, differential responsiveness to DMBQ was seen in distinct maternal families. Assaying haustorium development in subsequent generations of self-pollinated T. pusilla showed that DMBQ responsiveness was heritable. Reciprocal crosses between T. eriantha and T. versicolor demonstrated that DMBQ responsiveness was influenced by maternal factors. These results demonstrate heritable, natural variation in the recognition of a haustorial-inducing factor by a parasitic member of the Scrophulariaceae. PMID:11299366

Disease Heritability Inferred from Familial Relationships Reported in Medical Records.

Science.gov (United States)

Polubriaginof, Fernanda C G; Vanguri, Rami; Quinnies, Kayla; Belbin, Gillian M; Yahi, Alexandre; Salmasian, Hojjat; Lorberbaum, Tal; Nwankwo, Victor; Li, Li; Shervey, Mark M; Glowe, Patricia; Ionita-Laza, Iuliana; Simmerling, Mary; Hripcsak, George; Bakken, Suzanne; Goldstein, David; Kiryluk, Krzysztof; Kenny, Eimear E; Dudley, Joel; Vawdrey, David K; Tatonetti, Nicholas P

2018-05-15

Heritability is essential for understanding the biological causes of disease but requires laborious patient recruitment and phenotype ascertainment. Electronic health records (EHRs) passively capture a wide range of clinically relevant data and provide a resource for studying the heritability of traits that are not typically accessible. EHRs contain next-of-kin information collected via patient emergency contact forms, but until now, these data have gone unused in research. We mined emergency contact data at three academic medical centers and identified 7.4 million familial relationships while maintaining patient privacy. Identified relationships were consistent with genetically derived relatedness. We used EHR data to compute heritability estimates for 500 disease phenotypes. Overall, estimates were consistent with the literature and between sites. Inconsistencies were indicative of limitations and opportunities unique to EHR research. These analyses provide a validation of the use of EHRs for genetics and disease research. Copyright © 2018 Elsevier Inc. All rights reserved.

Heritability of neck pain

DEFF Research Database (Denmark)

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

2006-01-01

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...... for only 10% in the oldest male group and 0% in the oldest female group. There was a statistically significant difference in heritability between males and females (34 vs 52%, P... gradually less important with increasing age, and environmental factors dominate almost completely in the older age groups....

Egg shell quality in Japanese quail: characteristics, heritabilities and genetic and phenotypic relationships.

Science.gov (United States)

Narinc, D; Aygun, A; Karaman, E; Aksoy, T

2015-07-01

The objective of the present study was to estimate heritabilities as well as genetic and phenotypic correlations for egg weight, specific gravity, shape index, shell ratio, egg shell strength, egg length, egg width and shell weight in Japanese quail eggs. External egg quality traits were measured on 5864 eggs of 934 female quails from a dam line selected for two generations. Within the Bayesian framework, using Gibbs Sampling algorithm, a multivariate animal model was applied to estimate heritabilities and genetic correlations for external egg quality traits. The heritability estimates for external egg quality traits were moderate to high and ranged from 0.29 to 0.81. The heritability estimates for egg and shell weight of 0.81 and 0.76 were fairly high. The genetic and phenotypic correlations between egg shell strength with specific gravity, shell ratio and shell weight ranging from 0.55 to 0.79 were relatively high. It can be concluded that it is possible to determine egg shell quality using the egg specific gravity values utilizing its high heritability and fairly high positive correlation with most of the egg shell quality traits. As a result, egg specific gravity may be the choice of selection criterion rather than other external egg traits for genetic improvement of egg shell quality in Japanese quails.

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

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

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

African Journals Online (AJOL)

Heritability, variance components and genetic advance of some yield and yield related traits in Ethiopian ... African Journal of Biotechnology ... randomized complete block design at Adet Agricultural Research Station in 2008 cropping season.

Heritability of Neuropsychological Measures in Schizophrenia and Nonpsychiatric Populations: A Systematic Review and Meta-analysis.

Science.gov (United States)

Blokland, Gabriëlla A M; Mesholam-Gately, Raquelle I; Toulopoulou, Timothea; Del Re, Elisabetta C; Lam, Max; DeLisi, Lynn E; Donohoe, Gary; Walters, James T R; Seidman, Larry J; Petryshen, Tracey L

2017-07-01

Schizophrenia is characterized by neuropsychological deficits across many cognitive domains. Cognitive phenotypes with high heritability and genetic overlap with schizophrenia liability can help elucidate the mechanisms leading from genes to psychopathology. We performed a meta-analysis of 170 published twin and family heritability studies of >800 000 nonpsychiatric and schizophrenia subjects to accurately estimate heritability across many neuropsychological tests and cognitive domains. The proportion of total variance of each phenotype due to additive genetic effects (A), shared environment (C), and unshared environment and error (E), was calculated by averaging A, C, and E estimates across studies and weighting by sample size. Heritability ranged across phenotypes, likely due to differences in genetic and environmental effects, with the highest heritability for General Cognitive Ability (32%-67%), Verbal Ability (43%-72%), Visuospatial Ability (20%-80%), and Attention/Processing Speed (28%-74%), while the lowest heritability was observed for Executive Function (20%-40%). These results confirm that many cognitive phenotypes are under strong genetic influences. Heritability estimates were comparable in nonpsychiatric and schizophrenia samples, suggesting that environmental factors and illness-related moderators (eg, medication) do not substantially decrease heritability in schizophrenia samples, and that genetic studies in schizophrenia samples are informative for elucidating the genetic basis of cognitive deficits. Substantial genetic overlap between cognitive phenotypes and schizophrenia liability (average rg = -.58) in twin studies supports partially shared genetic etiology. It will be important to conduct comparative studies in well-powered samples to determine whether the same or different genes and genetic variants influence cognition in schizophrenia patients and the general population. © The Author 2016. Published by Oxford University Press on behalf of

The heritability of telomere length among the elderly and oldest-old

DEFF Research Database (Denmark)

Bischoff, Claus; Graakjaer, Jesper; Petersen, Hans Christian

2005-01-01

. Structural equation models revealed that a model including additive genetic effects and non-shared environment was the best fitting model and that telomere length was moderately heritable, with an estimate that was sensitive to the telomere length standardization procedure. Sex-specific analyses showed lower...... heritability in males, although not statistically significant, which is in line with our earlier finding of a sex difference in telomere dynamics among the elderly and oldest-old....

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.

Dominant-lethal mutations and heritable translocations in mice

International Nuclear Information System (INIS)

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

Heritability estimates derived from threshold analyses for ...

African Journals Online (AJOL)

Unknown

reproductive traits in a composite multibreed beef cattle herd using a threshold model. A GFCAT set of ..... pressure for longevity include low heritabilities, the increased generation interval necessary to obtain survival information, and automatic selection because long-lived cows contribute more offspring to subsequent ...

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

African Journals Online (AJOL)

ONOS

2010-05-10

May 10, 2010 ... coefficient of variation; h2, heritability; GA, genetic advance;. EMS, ethyl methane ... The analysis of variance (ANOVA) revealed the significance degree among the ... fullest extent. The estimates of range, phenotypic and.

Potential Implications of Research on Genetic or Heritable Contributions to Pedophilia for the Objectives of Criminal Law

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Berryessa, Colleen M.

2015-01-01

In recent years, there has been increasing scientific research on possible genetic or heritable influences to the etiology of pedophilia, driven by national and public concerns about better understanding the disorder in order to reduce children’s vulnerabilities to pedophilic and child sex offenders. This research has corresponded to growing academic dialogue on how advances in genetic research, especially concerning the causes and development of particular mental disorders or behaviors, may affect traditional practices of criminal law and how the justice system views, manages, and adjudicates different types of criminal behavior and offenders. This paper strives to supplement this dialogue by exploring several of the many possible effects and implications of research surrounding genetic or heritable contributions to pedophilia for the five widely accepted objectives that enforce and regulate the punishment of criminal law. These include retribution, incapacitation, deterrence, rehabilitation, and restoration. Although still currently in early stages, genetic and heritability research on the etiology of pedophilia may have the potential moving forward to influence the current and established punitive methods and strategies of how the justice system perceives, adjudicates, regulates, and punishes pedophilic and sex offenders, as well as how to best prevent sexual offending against children by pedophilic offenders in the future. PMID:25557668

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...

Heritability Estimates of Endophenotypes of Long and Health Life: The Long Life Family Study

DEFF Research Database (Denmark)

Matteini, Amy M; Fallin, M Daniele; Kammerer, Candace M

2010-01-01

survival were identified and heritability estimates were calculated. Principal components (PCs) analysis was carried out using 28 physiologic measurements from five trait domains (cardiovascular, cognition, physical function, pulmonary, and metabolic). RESULTS: The five most dominant PCs accounted for 50......% of underlying trait variance. The first PC (PC1), which consisted primarily of poor pulmonary and physical function, represented 14.3% of the total variance and had an estimated heritability of 39%. PC2 consisted of measures of good metabolic and cardiovascular function with an estimated heritability of 27%. PC...

Screening and treatment for heritable thrombophilia in pregnancy failure: inconsistencies among UK early pregnancy units.

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Norrie, Gillian; Farquharson, Roy G; Greaves, Mike

2009-01-01

The significance of heritable thrombophilia in pregnancy failure is controversial. We surveyed all UK Early Pregnancy Units and 70% responded. The majority test routinely for heritable thrombophilias; 80%, 76% and 88% undertook at least one screening test in late miscarriage, recurrent miscarriage and placental abruption, respectively. The range of thrombophilias sought is inconsistent: testing for proteins C and S deficiency and F5 R506Q (factor V Leiden) is most prevalent. Detection of heritable thrombophilia frequently leads to administration of antithrombotics in subsequent pregnancies. Thus, thrombophilia testing and use of antithrombotics are widespread in the UK despite controversies regarding the role of heritable thrombophilia in the pathogenesis of pregnancy complications, and the lack of robust evidence for the efficacy of antithrombotic therapy.

Heritability of asymmetry and lateral plate number in the threespine stickleback.

Directory of Open Access Journals (Sweden)

John Loehr

Full Text Available The estimation of individual fitness and quality are important elements of evolutionary ecological research. Over the past six decades, there has been great interest in using fluctuating asymmetry (FA to represent individual quality, yet, serious technical problems have hampered efforts to estimate the heritability of FA, which, in turn, has limited progress in the investigation of FA from an evolutionary perspective. Here we estimate the heritability of number of lateral plates, their FA and directional asymmetry (DA in threespine stickleback, Gasterosteus aculeatus. By (i using a meristic trait and (ii basing our calculations on a large half-sib design experiment involving 2,079 offspring from 84 families, we overcame many of the difficulties faced by earlier FA studies. Both lateral plate number and FA in lateral plates were heritable (h(2 = 0.46 and 0.21, respectively, even after controlling for marker genotypes linked to EDA (the major locus influencing plate number. Likewise, DA in lateral plates was heritable h(2 = 0.23. The additive genetic component of FA in lateral plates makes it a prime candidate for further investigation into the evolutionary implications of FA and the genetic underpinnings of developmental instability. This discovery in an evolutionary model species holds the possibility to invigorate the study of FA from an evolutionary perspective.

Heritability estimates derived from threshold analyses for ...

African Journals Online (AJOL)

Product-moment correlations between breeding values for stayability traits were low. The highest correlation of 0.22 was obtained between the ages of 36 and 48 months. Heritability estimates and correlations between traits appear to be of such a low magnitude that selection for these characteristics would result in limited ...

The paradox of intelligence: Heritability and malleability coexist in hidden gene-environment interplay.

Science.gov (United States)

Sauce, Bruno; Matzel, Louis D

2018-01-01

Intelligence can have an extremely high heritability, but also be malleable; a paradox that has been the source of continuous controversy. Here we attempt to clarify the issue, and advance a frequently overlooked solution to the paradox: Intelligence is a trait with unusual properties that create a large reservoir of hidden gene-environment (GE) networks, allowing for the contribution of high genetic and environmental influences on individual differences in IQ. GE interplay is difficult to specify with current methods, and is underestimated in standard metrics of heritability (thus inflating estimates of "genetic" effects). We describe empirical evidence for GE interplay in intelligence, with malleability existing on top of heritability. The evidence covers cognitive gains consequent to adoption/immigration, changes in IQ's heritability across life span and socioeconomic status, gains in IQ over time consequent to societal development (the Flynn effect), the slowdown of age-related cognitive decline, and the gains in intelligence from early education. The GE solution has novel implications for enduring problems, including our inability to identify intelligence-related genes (also known as IQ's "missing heritability"), and the loss of initial benefits from early intervention programs (such as "Head Start"). The GE solution can be a powerful guide to future research, and may also aid policies to overcome barriers to the development of intelligence, particularly in impoverished and underprivileged populations. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

The low single nucleotide polymorphism heritability of plasma and saliva cortisol levels.

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Neumann, Alexander; Direk, Nese; Crawford, Andrew A; Mirza, Saira; Adams, Hieab; Bolton, Jennifer; Hayward, Caroline; Strachan, David P; Payne, Erin K; Smith, Jennifer A; Milaneschi, Yuri; Penninx, Brenda; Hottenga, Jouke J; de Geus, Eco; Oldehinkel, Albertine J; van der Most, Peter J; de Rijke, Yolanda; Walker, Brian R; Tiemeier, Henning

2017-11-01

Cortisol is an important stress hormone affected by a variety of biological and environmental factors, such as the circadian rhythm, exercise and psychological stress. Cortisol is mostly measured using blood or saliva samples. A number of genetic variants have been found to contribute to cortisol levels with these methods. While the effects of several specific single genetic variants is known, the joint genome-wide contribution to cortisol levels is unclear. Our aim was to estimate the amount of cortisol variance explained by common single nucleotide polymorphisms, i.e. the SNP heritability, using a variety of cortisol measures, cohorts and analysis approaches. We analyzed morning plasma (n=5705) and saliva levels (n=1717), as well as diurnal saliva levels (n=1541), in the Rotterdam Study using genomic restricted maximum likelihood estimation. Additionally, linkage disequilibrium score regression was fitted on the results of genome-wide association studies (GWAS) performed by the CORNET consortium on morning plasma cortisol (n=12,597) and saliva cortisol (n=7703). No significant SNP heritability was detected for any cortisol measure, sample or analysis approach. Point estimates ranged from 0% to 9%. Morning plasma cortisol in the CORNET cohorts, the sample with the most power, had a 6% [95%CI: 0-13%] SNP heritability. The results consistently suggest a low SNP heritability of these acute and short-term measures of cortisol. The low SNP heritability may reflect the substantial environmental and, in particular, situational component of these cortisol measures. Future GWAS will require very large sample sizes. Alternatively, more long-term cortisol measures such as hair cortisol samples are needed to discover further genetic pathways regulating cortisol concentrations. Copyright © 2017 Elsevier Ltd. All rights reserved.

SNP-based heritability estimates of the personality dimensions and polygenic prediction of both neuroticism and major depression: findings from CONVERGE.

Science.gov (United States)

Docherty, A R; Moscati, A; Peterson, R; Edwards, A C; Adkins, D E; Bacanu, S A; Bigdeli, T B; Webb, B T; Flint, J; Kendler, K S

2016-10-25

Biometrical genetic studies suggest that the personality dimensions, including neuroticism, are moderately heritable (~0.4 to 0.6). Quantitative analyses that aggregate the effects of many common variants have recently further informed genetic research on European samples. However, there has been limited research to date on non-European populations. This study examined the personality dimensions in a large sample of Han Chinese descent (N=10 064) from the China, Oxford, and VCU Experimental Research on Genetic Epidemiology study, aimed at identifying genetic risk factors for recurrent major depression among a rigorously ascertained cohort. Heritability of neuroticism as measured by the Eysenck Personality Questionnaire (EPQ) was estimated to be low but statistically significant at 10% (s.e.=0.03, P=0.0001). In addition to EPQ, neuroticism based on a three-factor model, data for the Big Five (BF) personality dimensions (neuroticism, openness, conscientiousness, extraversion and agreeableness) measured by the Big Five Inventory were available for controls (n=5596). Heritability estimates of the BF were not statistically significant despite high power (>0.85) to detect heritabilities of 0.10. Polygenic risk scores constructed by best linear unbiased prediction weights applied to split-half samples failed to significantly predict any of the personality traits, but polygenic risk for neuroticism, calculated with LDpred and based on predictive variants previously identified from European populations (N=171 911), significantly predicted major depressive disorder case-control status (P=0.0004) after false discovery rate correction. The scores also significantly predicted EPQ neuroticism (P=6.3 × 10 -6 ). Factor analytic results of the measures indicated that any differences in heritabilities across samples may be due to genetic variation or variation in haplotype structure between samples, rather than measurement non-invariance. Findings demonstrate that neuroticism

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.

Social disinhibition is a heritable subphenotype of tics in Tourette syndrome.

Science.gov (United States)

Hirschtritt, Matthew E; Darrow, Sabrina M; Illmann, Cornelia; Osiecki, Lisa; Grados, Marco; Sandor, Paul; Dion, Yves; King, Robert A; Pauls, David L; 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

2016-08-02

To identify heritable symptom-based subtypes of Tourette syndrome (TS). Forty-nine motor and phonic tics were examined in 3,494 individuals (1,191 TS probands and 2,303 first-degree relatives). Item-level exploratory factor and latent class analyses (LCA) were used to identify tic-based subtypes. Heritabilities of the subtypes were estimated, and associations with clinical characteristics were examined. A 6-factor exploratory factor analysis model provided the best fit, which paralleled the somatotopic representation of the basal ganglia, distinguished simple from complex tics, and separated out socially disinhibited and compulsive tics. The 5-class LCA model best distinguished among the following groups: unaffected, simple tics, intermediate tics without social disinhibition, intermediate with social disinhibition, and high rates of all tic types. Across models, a phenotype characterized by high rates of social disinhibition emerged. This phenotype was associated with increased odds of comorbid psychiatric disorders, in particular, obsessive-compulsive disorder and attention-deficit/hyperactivity disorder, earlier age at TS onset, and increased tic severity. The heritability estimate for this phenotype based on the LCA was 0.53 (SE 0.08, p 1.7 × 10(-18)). Expanding on previous modeling approaches, a series of TS-related phenotypes, including one characterized by high rates of social disinhibition, were identified. These phenotypes were highly heritable and may reflect underlying biological networks more accurately than traditional diagnoses, thus potentially aiding future genetic, imaging, and treatment studies. © 2016 American Academy of Neurology.

Heritability of Retinal Vascular Fractals

DEFF Research Database (Denmark)

Vergmann, Anna Stage; Broe, Rebecca; Kessel, Line

2017-01-01

, the retinal vascular fractal dimension was measured using the box-counting method and compared within monozygotic and dizygotic twin pairs using Pearson correlation coefficients. Falconer's formula and quantitative genetic models were used to determine the genetic component of variation. Results: The mean...... fractal dimension did not differ statistically significantly between monozygotic and dizygotic twin pairs (1.505 vs. 1.495, P = 0.06), supporting that the study population was suitable for quantitative analysis of heritability. The intrapair correlation was markedly higher (0.505, P = 0...

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.

The success of primary chemotherapy for group D heritable retinoblastoma.

Science.gov (United States)

Cohen, V M L; Kingston, J; Hungerford, J L

2009-07-01

To report the ocular survival and event-free survival following primary multiagent chemotherapy for group D, heritable bilateral retinoblastoma (RB). The RB database was used to identify children with heritable, bilateral RB treated with primary chemotherapy (six cycles of vincristine, etoposide and carboplatin). Only Group D eyes with more than 12 months' follow-up were analysed. The timing, number and type of salvage treatments were recorded. Kaplan-Meier estimates for the ocular survival and event-free survival (percentage of eyes that avoided external beam radiotherapy and/or enucleation) were performed as a function of time. Of 18 group D eyes, two (11%) were treated successfully with chemotherapy alone, nine (50%) underwent successful salvage treatment, and seven (39%) were enucleated. The median time from completing chemotherapy to enucleation was 9 months (range 4 to 25 months). Ocular survival was 67% at 2 years. External beam radiotherapy proved successful salvage treatment in five of nine eyes, so the event-free survival was 34% at 2 years. Multiagent chemotherapy alone is rarely sufficient for the preservation of group D eyes. External beam radiotherapy and plaque radiotherapy remain important salvage treatments for advanced, heritable retinoblastoma.

A general definition of the heritable variation that determines the potential of a population to respond to selection.

Science.gov (United States)

Bijma, Piter

2011-12-01

Genetic selection is a major force shaping life on earth. In classical genetic theory, response to selection is the product of the strength of selection and the additive genetic variance in a trait. The additive genetic variance reflects a population's intrinsic potential to respond to selection. The ordinary additive genetic variance, however, ignores the social organization of life. With social interactions among individuals, individual trait values may depend on genes in others, a phenomenon known as indirect genetic effects. Models accounting for indirect genetic effects, however, lack a general definition of heritable variation. Here I propose a general definition of the heritable variation that determines the potential of a population to respond to selection. This generalizes the concept of heritable variance to any inheritance model and level of organization. The result shows that heritable variance determining potential response to selection is the variance among individuals in the heritable quantity that determines the population mean trait value, rather than the usual additive genetic component of phenotypic variance. It follows, therefore, that heritable variance may exceed phenotypic variance among individuals, which is impossible in classical theory. This work also provides a measure of the utilization of heritable variation for response to selection and integrates two well-known models of maternal genetic effects. The result shows that relatedness between the focal individual and the individuals affecting its fitness is a key determinant of the utilization of heritable variance for response to selection.

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.

Late language emergence in 24-month-old twins: heritable and increased risk for late language emergence in twins.

Science.gov (United States)

Rice, Mabel L; Zubrick, Stephen R; Taylor, Catherine L; Gayán, Javier; Bontempo, Daniel E

2014-06-01

This study investigated the etiology of late language emergence (LLE) in 24-month-old twins, considering possible twinning, zygosity, gender, and heritability effects for vocabulary and grammar phenotypes. A population-based sample of 473 twin pairs participated. Multilevel modeling estimated means and variances of vocabulary and grammar phenotypes, controlling for familiality. Heritability was estimated with DeFries-Fulker regression and variance components models to determine effects of heritability, shared environment, and nonshared environment. Twins had lower average language scores than norms for single-born children, with lower average performance for monozygotic than dizygotic twins and for boys than girls, although gender and zygosity did not interact. Gender did not predict LLE. Significant heritability was detected for vocabulary (0.26) and grammar phenotypes (0.52 and 0.43 for boys and girls, respectively) in the full sample and in the sample selected for LLE (0.42 and 0.44). LLE and the appearance of Word Combinations were also significantly heritable (0.22-0.23). The findings revealed an increased likelihood of LLE in twin toddlers compared with single-born children that is modulated by zygosity and gender differences. Heritability estimates are consistent with previous research for vocabulary and add further suggestion of heritable differences in early grammar acquisition.

Methodological Considerations in Estimation of Phenotype Heritability Using Genome-Wide SNP Data, Illustrated by an Analysis of the Heritability of Height in a Large Sample of African Ancestry Adults.

Directory of Open Access Journals (Sweden)

Fang Chen

Full Text Available Height has an extremely polygenic pattern of inheritance. Genome-wide association studies (GWAS have revealed hundreds of common variants that are associated with human height at genome-wide levels of significance. However, only a small fraction of phenotypic variation can be explained by the aggregate of these common variants. In a large study of African-American men and women (n = 14,419, we genotyped and analyzed 966,578 autosomal SNPs across the entire genome using a linear mixed model variance components approach implemented in the program GCTA (Yang et al Nat Genet 2010, and estimated an additive heritability of 44.7% (se: 3.7% for this phenotype in a sample of evidently unrelated individuals. While this estimated value is similar to that given by Yang et al in their analyses, we remain concerned about two related issues: (1 whether in the complete absence of hidden relatedness, variance components methods have adequate power to estimate heritability when a very large number of SNPs are used in the analysis; and (2 whether estimation of heritability may be biased, in real studies, by low levels of residual hidden relatedness. We addressed the first question in a semi-analytic fashion by directly simulating the distribution of the score statistic for a test of zero heritability with and without low levels of relatedness. The second question was addressed by a very careful comparison of the behavior of estimated heritability for both observed (self-reported height and simulated phenotypes compared to imputation R2 as a function of the number of SNPs used in the analysis. These simulations help to address the important question about whether today's GWAS SNPs will remain useful for imputing causal variants that are discovered using very large sample sizes in future studies of height, or whether the causal variants themselves will need to be genotyped de novo in order to build a prediction model that ultimately captures a large fraction of the

Heritable oxidative phosphorylation differences in a pollutant resistant Fundulus heteroclitus population

International Nuclear Information System (INIS)

Du, Xiao; Crawford, Douglas L.; Nacci, Diane E.; Oleksiak, Marjorie F.

2016-01-01

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.

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.

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

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

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...

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.

Genetic variability, partial regression, Co-heritability studies and their implication in selection of high yielding potato gen

International Nuclear Information System (INIS)

Iqbal, Z.M.; Khan, S.A.

2003-01-01

Partial regression coefficient, genotypic and phenotypic variabilities, heritability co-heritability and genetic advance were studied in 15 Potato varieties of exotic and local origin. Both genotypic and phenotypic coefficients of variations were high for scab and rhizoctonia incidence percentage. Significant partial regression coefficient for emergence percentage indicated its relative importance in tuber yield. High heritability (broadsense) estimates coupled with high genetic advance for plant height, number of stems per plant and scab percentage revealed substantial contribution of additive genetic variance in the expression of these traits. Hence, the selection based on these characters could play a significant role in their improvement the dominance and epistatic variance was more important for character expression of yield ha/sup -1/, emergence and rhizoctonia percentage. This phenomenon is mainly due to the accumulative effects of low heritability and low to moderate genetic advance. The high co-heritability coupled with negative genotypic and phenotypic covariance revealed that selection of varieties having low scab and rhizoctonia percentage resulted in more potato yield. (author)

Multifocal central serous chorioretinopathy with photoreceptor-retinal pigment epithelium diastasis in heritable pulmonary arterial hypertension

DEFF Research Database (Denmark)

Li, Xiao Qiang; Pryds, Anders; Carlsen, Jørn

2015-01-01

PURPOSE: To report atypical central serous chorioretinopathy and choroidal thickening in a patient with heritable pulmonary arterial hypertension. METHODS: A 40-year-old man with heritable pulmonary arterial hypertension presented with blurred vision in his left eye and was followed up for 1 year...

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.

The capture of heritable variation for genetic quality through social competition.

Science.gov (United States)

Wolf, Jason B; Harris, W Edwin; Royle, Nick J

2008-09-01

In theory, females of many species choose mates based on traits that are indicators of male genetic quality. A fundamental question in evolutionary biology is why genetic variation for such indicator traits persists despite strong persistent selection imposed by female preference, which is known as the lek paradox. One potential solution to the lek paradox suggests that the traits that are targets of mate choice should evolve condition-dependent expression and that condition should have a large genetic variance. Condition is expected to exhibit high genetic variance because it is affected by a large number of physiological processes and hence, condition-dependent traits should 'capture' variation contributed by a large number of loci. We suggest that a potentially important cause of variation in condition is competition for limited resources. Here, we discuss a pair of models to analyze the evolutionary genetics of traits affected by success in social competition for resources. We show that competition can contribute to genetic variation of 'competition-dependent' traits that have fundamentally different evolutionary properties than other sources of variation. Competition dependence can make traits honest indicators of genetic quality by revealing the relative competitive ability of males, can provide a component of heritable variation that does not contribute to trait evolution, and can help maintain heritable variation under directional selection. Here we provide a general introduction to the concept of competition dependence and briefly introduce two models to demonstrate the potential evolutionary consequences of competition-dependent trait expression.

Heritable Variation for Sex Ratio under Environmental Sex Determination in the Common Snapping Turtle (Chelydra Serpentina)

Science.gov (United States)

Janzen, F. J.

1992-01-01

The magnitude of quantitative genetic variation for primary sex ratio was measured in families extracted from a natural population of the common snapping turtle (Chelydra serpentina), which possesses temperature-dependent sex determination (TSD). Eggs were incubated at three temperatures that produced mixed sex ratios. This experimental design provided estimates of the heritability of sex ratio in multiple environments and a test of the hypothesis that genotype X environment (G X E) interactions may be maintaining genetic variation for sex ratio in this population of C. serpentina. Substantial quantitative genetic variation for primary sex ratio was detected in all experimental treatments. These results in conjunction with the occurrence of TSD in this species provide support for three critical assumptions of Fisher's theory for the microevolution of sex ratio. There were statistically significant effects of family and incubation temperature on sex ratio, but no significant interaction was observed. Estimates of the genetic correlations of sex ratio across environments were highly positive and essentially indistinguishable from +1. These latter two findings suggest that G X E interaction is not the mechanism maintaining genetic variation for sex ratio in this system. Finally, although substantial heritable variation exists for primary sex ratio of C. serpentina under constant temperatures, estimates of the effective heritability of primary sex ratio in nature are approximately an order of magnitude smaller. Small effective heritability and a long generation time in C. serpentina imply that evolution of sex ratios would be slow even in response to strong selection by, among other potential agents, any rapid and/or substantial shifts in local temperatures, including those produced by changes in the global climate. PMID:1592234

ANOPHTHALMIA: A NON-HERITABLE EYE DEFORMITY IN Oreochromis mossambicus

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D. Tave

1998-12-01

Full Text Available Seven male Oreochromis mossambicus with anophthalmia were found in a hatchery population. The deformity was not observed in either the Fl or F2 generations; consequently, it was a non-heritable congenital deformity.

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...

Increased fitness and realized heritability in emamectin benzoate-resistant Chrysoperla carnea (Neuroptera: Chrysopidae).

Science.gov (United States)

Mansoor, Muhammad Mudassir; Abbas, Naeem; Shad, Sarfraz Ali; Pathan, Attaullah Khan; Razaq, Muhammad

2013-10-01

The common green lacewing Chrysoperla carnea is a key biological control agent employed in integrated pest management (IPM) programs for managing various insect pests. A field collected population of C. carnea was selected for emamectin benzoate resistance in the laboratory and fitness costs and realized heritability were investigated. After five generations of selection with emamectin benzoate, C. carnea developed a 318-fold resistance to the insecticide. The resistant population had a relative fitness of 1.49, with substantially higher emergence rate of healthy adults, fecundity and hatchability and shorter larval duration, pupal duration, and development time compared to the susceptible population. Mean population growth rates; such as the intrinsic rate of natural population increase and biotic potential were higher for the emamectin benzoate selected population compared to the susceptible population. The realized heritability (h(2)) value of emamectin benzoate resistance was 0.34 in emamectin benzoate selected population of C. carnea. Chrysoperla species which show resistance to insecticides makes them compatible with those IPM systems where emamectin benzoate is employed.

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.

Heritability of metoprolol and torsemide pharmacokinetics

DEFF Research Database (Denmark)

Matthaei, Johannes; Brockmöller, Jürgen; Tzvetkov, Mladen

2015-01-01

Genetic variation in the pharmacokinetics of metoprolol and torsemide due to polymorphisms in CYP2D6, CYP2C9 and OATP1B1 has been extensively studied. However, it is still unknown how much of variation in pharmacokinetics of these two clinically important drugs in total is due to genetic factors....... of the heritable variability in the pharmacokinetics of metoprolol and torsemide remains to be elucidated. This article is protected by copyright. All rights reserved....

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

Heritability for Yield and Glycoalkaloid Content in Potato Breeding under Warm Environments

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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.

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

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Hemi A I Malkki

2010-11-01

Full Text Available To study the heritability of different training stages of appetitive operant conditioning, we carried out behavioural 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 successive training stages to study whether learning deficits at an advanced stage of operant conditioning may be dissociated from normal performance in preceding phases of training.The training consisted of two phases: an operant nose poking phase, in which mice learned to collect a sucrose pellet from a food magazine by nose poking, and an operant lever press and nose poking phase, in which mice had to execute a sequence of these two actions to collect a food pellet. As a measure of magazine oriented exploration, we also studied the nose poke entries in the food magazine during the intertrial intervals at the beginning of the first session of the nose-poke training phase.We found significantly heritable components in initial magazine checking behaviour, operant nose-poking and lever press-nose poking. Performance levels in these phases were positively correlated, but several individual strains were identified that showed poor lever press-nose poking while performing well in preceding training stages. Quantitative trait loci mapping revealed suggestive likelihood ratio statistic peaks for initial magazine checking behaviour and lever press – nose poking. These findings indicate that consecutive stages towards more complex operant behavior show significant heritable components, as well as dissociability between stages in specific mouse strains. These heritable components may reside in different chromosomal areas.

SNP based heritability estimation using a Bayesian approach

DEFF Research Database (Denmark)

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

2013-01-01

. 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...

Estimation of heritability of the nectar guide of flowers in Brassica rapa L

International Nuclear Information System (INIS)

Syafaruddin; Kobayashi, K.; Yoshioka, Y.; Horisaki, A.; Niikura, S.

2006-01-01

Flowers of Brassica rapa L, produce a nectar guide, which consists of a coloured pattern (the dark, UV-absorbing centre of the flower) invisible to humans but visible to insect pollinators. As a result, the colour of the flowers typically appears as uniform light yellow to human eyes. The objective of the present study was to investigate the mode of inheritance of this character by using two inbred lines and their Fsub(1), Fsub(2) and Fsub(3) progenies with a view to improving this character. After digitizing UV-photographs of each flower, we measured the UV-absorbing area (UVA) and the total flower area (FA), based on image analysis. The ratio of UVA to FA represented the UV colour proportion (UVP). We estimated the broad-sense and narrow-sense heritabilities from within-generation variances in the UVP scores and environmental variance from the average value of the variances in the parental lines. The value of broad-sense heritability of UVP was high (0.75) in the Fsub(2) generation (hBsup2[Fsub(2)]) and higher (0.84) in the Fsub(3) generation (hBsup2[Fsub(3)]), indicating that UVP is a heritable character. Moreover, the high value of broad-sense heritability of UVP indicates that breeders have not focused their selection intentionally on this character in B. rapa. In contrast, the value of narrow-sense heritability was much lower: 0.12 (hBsup2[Fsub(2)]) and 0.24 (hBsup2[Fsub(3)]), respectively, suggesting that the genetic variation in UVP was mainly due to dominance effects. If we attempt to breed new lines with larger or smaller UVP values, we need to select this trait in advanced generations, in which additive effects become larger

Life course variations in the heritability of body size

DEFF Research Database (Denmark)

Zhao, J.; Luan, J.A.; Sharp, S.J.

aim was to use this approach to investigate the life course variations in heritability of body size. Methods: We analysed height, weight and body mass index variables at 11 time-points in 2,452 individuals (1,225 men, 1,227 women) born in 1946 and enrolled in the MRC National Survey of Health...... and Development (NSHD), with genotypes at 147,949 single nucleotide polymorphisms (SNPs) on Metabochips which were subsequently imputed to 506,255 according to the 1000Genomes project. We obtained genome-wide kinship matrices using genotypes at SNPs on Metabochips and genotypes at all SNPs, which were used.......11(0-0.20), 0.10(0-0.22) for height, weight and body mass index, respectively. Variation in estimates was also seen between alternative procedures. Conclusion: This work supports the utility of large-scale genotype data in heritability estimation and highlights the age-related variability in genetic...

Heritability, genetic advance and correlation studies of some important traits in rice

International Nuclear Information System (INIS)

Bughio, H.R.; Asad, M.A.; Arain, M.A.; Bughio, M.S.

2009-01-01

Genetic variability, estimates of broad sense heritability, genetic advance as percent of mean and genotypic and phenotypic correlation coefficients were observed in eight rice genotypes at Nuclear Institute of Agriculture, Tando Jam in 2005. High heritability coupled with high genetic advance was exhibited for number of fertile grains per panicle, number of productive tillers per plant and grain yield per plant, indicating additive gene action and possibility of improving these traits by simple selection. High heritability with moderate genetic advance was exhibited for plant height, 1000-grain weight and panicle length indicating the involvement of additive and non-additive type of gene action and postponement of selection programs for the improvement of these traits. The characters productive tillers per plant, panicle length, number of fertile grains per panicle, panicle fertility percentage and 1000-grain weight showed significant positive correlation with grain yield per plant. While plant height and days to 50% flowering were observed non-significant and negatively correlated with grain yield per plant. Fertile grain had significant and positive correlation with panicle fertility percentage. (author)

Interplay between heritability of smoking and environmental conditions? A comparison of two birth cohorts

Directory of Open Access Journals (Sweden)

Vink Jacqueline M

2011-05-01

Full Text Available Abstract Background Attitudes and policy towards smoking changed over the past years in many countries including the Netherlands. Generally, this led to a decrease in smoking prevalence. As demonstrated in twin and family studies, individual differences in smoking behavior are partly influenced by genetic factors. We explore whether the current change in environmental conditions has influenced the genetic architecture of smoking. This would constitute evidence for Gene × Environment (G×E interaction. Methods Data on smoking were available from 2 cohorts of young adult twins (18-25 year registered with the Netherlands Twin Register. The first cohort completed a survey in 1993-1995 (n = 2669 and the second in 2009-2010 (n = 2339. Prevalence and genetic architecture of smoking were compared across cohorts using structural equation models in MX. Results Smoking prevalence decreased from 40-51% to 22-23% between 1993-1995 and 2009-2010. Genetic analyses, making use of the different genetic resemblance in monozygotic and dizygotic twins, showed that the heritability was the same in both cohorts. Conclusions The change in policy and smoking attitudes that led to a decrease in prevalence of smoking did not change the heritability of smoking and thus no evidence was found for GxE interaction.

Cognitive ability is heritable and predicts the success of an alternative mating tactic.

Science.gov (United States)

Smith, Carl; Philips, André; Reichard, Martin

2015-06-22

The ability to attract mates, acquire resources for reproduction, and successfully outcompete rivals for fertilizations may make demands on cognitive traits--the mechanisms by which an animal acquires, processes, stores and acts upon information from its environment. Consequently, cognitive traits potentially undergo sexual selection in some mating systems. We investigated the role of cognitive traits on the reproductive performance of male rose bitterling (Rhodeus ocellatus), a freshwater fish with a complex mating system and alternative mating tactics. We quantified the learning accuracy of males and females in a spatial learning task and scored them for learning accuracy. Males were subsequently allowed to play the roles of a guarder and a sneaker in competitive mating trials, with reproductive success measured using paternity analysis. We detected a significant interaction between male mating role and learning accuracy on reproductive success, with the best-performing males in maze trials showing greater reproductive success in a sneaker role than as a guarder. Using a cross-classified breeding design, learning accuracy was demonstrated to be heritable, with significant additive maternal and paternal effects. Our results imply that male cognitive traits may undergo intra-sexual selection. © 2015 The Author(s) Published by the Royal Society. All rights reserved.

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....

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.

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

Serum antibody responses in pigs trickle-infected with Ascaris and Trichuris: Heritabilities and associations with parasitological findings.

Science.gov (United States)

Kringel, Helene; Thamsborg, Stig Milan; Petersen, Heidi Huus; Göring, Harald Heinz Herbert; Skallerup, Per; Nejsum, Peter

2015-07-30

A humoral immune response following helminth infection in pigs is well documented. However, it has been difficult to confirm the existence of antibody mediated resistance against the large roundworm, Ascaris suum, and whipworm, Trichuris suis, in experimental settings by correlating worm burdens or egg excretion with specific antibody levels. We set out to investigate the association between worm load and T. suis and A. suum specific serum antibody levels (IgG1, IgG2 and IgA) against excretory-secretory products of adults and third stage larvae, respectively, measured at 0, 7 and 14 weeks p.i. in a trickle-infected F1-resource-population of crossbred pigs (n=195). Furthermore, we wanted to determine the heritability of these antibody isotypes during the course of infection. Most pigs remained infected with A. suum throughout the experiment while they expelled T. suis between 7 and 14 weeks post infection (p.i.). Parasite specific IgG1 and IgA were significantly (P<0.001) elevated after 7 and 14 weeks of infection, whereas parasite specific IgG2 levels only changed slightly at 14 weeks p.i.. However, the observed association between specific antibody isotype levels and faecal egg counts and macroscopic worm load was weak. The relative heritabilities of the different parasite specific isotypes were assessed and resulted in significant heritability estimates for parasite specific IgG1 and IgA. The highest heritabilities were found for A. suum specific IgG1 (h(2)=0.41 and 0.46 at 7 and 14 weeks p.i., respectively). Thus, the present study demonstrates that host genetic factors influence the IgG1 and IgA antibody isotype responses specific to two of the most common gastrointestinal nematodes of swine whereas specific antibody levels were poorly associated with egg excretion and the presence of macroscopic worms. Copyright © 2015. Published by Elsevier B.V.

Cargo Data Management Demonstration System

Science.gov (United States)

1974-02-01

Delays in receipt and creation of cargo documents are a problem in international trade. The work described demonstrates some of the advantages and capabilities of a computer-based cargo data management system. A demonstration system for data manageme...

Heritability of sperm length in the bumblebee Bombus terrestris

DEFF Research Database (Denmark)

Baer, Boris; de Jong, Gerdien; Schmid-Hempel, Regula

2006-01-01

estimates of narrow sense heritability of sperm length in a social insect, the bumblebee Bombus terrestris. In spite of a balanced and straightforward rearing design of colonies, and the possibility to replicate measurements of sperm within single males nested within colonies, the analysis proved...

Superparasitism Drives Heritable Symbiont Epidemiology and Host Sex Ratio in a Wasp.

Directory of Open Access Journals (Sweden)

Steven R Parratt

2016-06-01

Full Text Available Heritable microbial symbionts have profound impacts upon the biology of their arthropod hosts. Whilst our current understanding of the dynamics of these symbionts is typically cast within a framework of vertical transmission only, horizontal transmission has been observed in a number of cases. For instance, several symbionts can transmit horizontally when their parasitoid hosts share oviposition patches with uninfected conspecifics, a phenomenon called superparasitism. Despite this, horizontal transmission, and the host contact structures that facilitates it, have not been considered in heritable symbiont epidemiology. Here, we tested for the importance of host contact, and resulting horizontal transmission, for the epidemiology of a male-killing heritable symbiont (Arsenophonus nasoniae in parasitoid wasp hosts. We observed that host contact through superparasitism is necessary for this symbiont's spread in populations of its primary host Nasonia vitripennis, such that when superparasitism rates are high, A. nasoniae almost reaches fixation, causes highly female biased population sex ratios and consequently causes local host extinction. We further tested if natural interspecific variation in superparasitism behaviours predicted symbiont dynamics among parasitoid species. We found that A. nasoniae was maintained in laboratory populations of a closely related set of Nasonia species, but declined in other, more distantly related pteromalid hosts. The natural proclivity of a species to superparasitise was the primary factor determining symbiont persistence. Our results thus indicate that host contact behaviour is a key factor for heritable microbe dynamics when horizontal transmission is possible, and that 'reproductive parasite' phenotypes, such as male-killing, may be of secondary importance in the dynamics of such symbiont infections.

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.

The heritability of blood donation

DEFF Research Database (Denmark)

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

2015-01-01

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.......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...

Heritability of Stroop and flanker performance in 12-year old children

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Polderman Tinca JC

2004-12-01

Full Text Available Abstract Background There is great interest in appropriate phenotypes that serve as indicator of genetically transmitted frontal (dysfunction, such as ADHD. Here we investigate the ability to deal with response conflict, and we ask to what extent performance variation on response interference tasks is caused by genetic variation. We tested a large sample of 12-year old monozygotic and dizygotic twins on two well-known and closely related response interference tasks; the color Stroop task and the Eriksen flanker task. Using structural equation modelling we assessed the heritability of several performance indices derived from those tasks. Results In the Stroop task we found high heritabilities of overall reaction time and – more important – Stroop interference (h2 = nearly 50 %. In contrast, we found little evidence of heritability on flanker performance. For both tasks no effects of sex on performance variation were found. Conclusions These results suggest that normal variation in Stroop performance is influenced by underlying genetic variation. Given that Stroop performance is often hampered not only in people suffering from frontal dysfunction, but also in their unaffected relatives, we conclude that this variable may constitute a suitable endophenotype for future genetic studies. We discuss several reasons for the absence of genetic effects on the flanker task.

Heritability and genetic correlations for volume, foxtails, and other characteristics of Caribbean pine in Puerto Rico

Science.gov (United States)

F. Thomas Ledig; J.L. Whitmore

1981-01-01

Caribbean pine is an important exotic being bred throughout the tropics, but published estimates are lacking for heritability of economically important traits and the genetic correlations between them. Based on a Puerto Rican trial of 16 open-pollinated parents of var. hondurensis selected in Belize, heritabilities for a number of characteristics...

Harnessing genomics to identify environmental determinants of heritable disease

Science.gov (United States)

Yauk, Carole Lyn; Argueso, J. Lucas; Auerbach, Scott S.; Awadalla, Philip; Davis, Sean R.; DeMarini, David M.; Douglas, George R.; Dubrova, Yuri E.; Elespuru, Rosalie K.; Glover, Thomas W.; Hales, Barbara F.; Hurles, Matthew E.; Klein, Catherine B.; Lupski, James R.; Manchester, David K.; Marchetti, Francesco; Montpetit, Alexandre; Mulvihill, John J.; Robaire, Bernard; Robbins, Wendie A.; Rouleau, Guy A.; Shaughnessy, Daniel T.; Somers, Christopher M.; Taylor, James G.; Trasler, Jacquetta; Waters, Michael D.; Wilson, Thomas E.; Witt, Kristine L.; Bishop, Jack B.

2012-01-01

Next-generation sequencing technologies can now be used to directly measure heritable de novo DNA sequence mutations in humans. However, these techniques have not been used to examine environmental factors that induce such mutations and their associated diseases. To address this issue, a working group on environmentally induced germline mutation analysis (ENIGMA) met in October 2011 to propose the necessary foundational studies, which include sequencing of parent–offspring trios from highly exposed human populations, and controlled dose–response experiments in animals. These studies will establish background levels of variability in germline mutation rates and identify environmental agents that influence these rates and heritable disease. Guidance for the types of exposures to examine come from rodent studies that have identified agents such as cancer chemotherapeutic drugs, ionizing radiation, cigarette smoke, and air pollution as germ-cell mutagens. Research is urgently needed to establish the health consequences of parental exposures on subsequent generations. PMID:22935230

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.

Multi-trait and random regression mature weight heritability and ...

African Journals Online (AJOL)

Legendre polynomials of orders 4, 3, 6 and 3 were used for animal and maternal genetic and permanent environmental effects, respectively, considering five classes of residual variances. Mature weight (five years) direct heritability estimates were 0.35 (MM) and 0.38 (RRM). Rank correlation between sires' breeding values ...

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

African Journals Online (AJOL)

GRACE

2006-07-03

Jul 3, 2006 ... 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.

Fluctuations in milk yield are heritable and can be used as a resilience indicator to breed healthy cows

NARCIS (Netherlands)

Elgersma, G.G.; Jong, de G.; Linde, van der R.; Mulder, H.A.

2018-01-01

Automatic milking systems record an enormous amount of data on milk yield and the cow itself. These type of big data are expected to contain indicators for health and resilience of cows. In this study, the aim was to define and estimate heritabilities for traits related with fluctuations in daily

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.

The heritability of milk yield and fat percentage in the Friesian cattle in the province of Friesland

NARCIS (Netherlands)

El-Shimy, S.A.F.

1956-01-01

The heritability of milk yield and fat percentage was calculated of herd-registered cattle in Friesland. The estimates were based on daughter-dam comparisons. Comparisons covered the first three lactations. The average heritability estimates of milk yield within sires, and according to the different

Heritability and familial aggregation of refractive error in the Old Order Amish.

Science.gov (United States)

Peet, Jon A; Cotch, Mary-Frances; Wojciechowski, Robert; Bailey-Wilson, Joan E; Stambolian, Dwight

2007-09-01

To determine the heritability of refractive error and familial aggregation of myopia and hyperopia in an elderly Old Order Amish (OOA) population. Nine hundred sixty-seven siblings (mean age, 64.2 years) in 269 families were recruited for the Amish Eye Study in the Lancaster County area of Pennsylvania. Refractive error was determined by noncycloplegic manifest refraction. Heritability of refractive error was estimated with multivariate linear regression as twice the residual sibling-sibling correlation after adjustment for age and gender. Logistic regression models were used to estimate the sibling recurrence odds ratio (OR(s)). Myopia and hyperopia were defined with five different thresholds. The age- and gender-adjusted heritability of refractive error was 70% (95% CI: 48%-92%) in the OOA. Age and gender-adjusted OR(s) and sibling recurrence risk (lambda(s)), with different thresholds defining myopia ranged from 3.03 (95% CI: 1.58-5.80) to 7.02 (95% CI: 3.41-14.46) and from 2.36 (95% CI: 1.65-3.19) to 5.61 (95% CI: 3.06-9.34). Age and gender-adjusted OR(s) and lambda(s) for different thresholds of hyperopia ranged from 2.31 (95% CI: 1.56-3.42) to 2.94 (95% CI: 2.04-4.22) and from 1.33 (95% CI: 1.22-1.43) to 1.85 (95% CI: 1.18-2.78), respectively. Women were significantly more likely than men to have hyperopia. There was no significant gender difference in the risk of myopia. In the OOA, refractive error is highly heritable. Hyperopia and myopia aggregate strongly in OOA families.

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.

The heritability of acceptability in South African Merino sheep ...

African Journals Online (AJOL)

Selection for production and reproduction in South African Merino sheep is always combined with selection based on visual appraisal and will, in all probability, remain so for many years to come. Heritabilities for acceptability were estimated using a threshold model to analyse data from two parent Merino studs. Effects ...

Missing heritability : Is the gap closing? An analysis of 32 complex traits in the Lifelines Cohort Study

NARCIS (Netherlands)

Nolte, Ilja M.; van der Most, Peter J.; Alizadeh, Behrooz Z.; de Bakker, Paul I. W.; Boezen, H. Marike; Bruinenberg, Marcel; Franke, Lude; van der Harst, Pim; Navis, Gerjan; Postma, Dirkje S.; Rots, Marianne G.; Stolk, Ronald P.; Swertz, Morris A.; Wolffenbuttel, Bruce H. R.; Wijmenga, Cisca; Snieder, Harold

Despite the recent explosive rise in number of genetic markers for complex disease traits identified in genome-wide association studies, there is still a large gap between the known heritability of these traits and the part explained by these markers. To gauge whether this 'heritability gap' is

Heritability of and mortality prediction with a longevity phenotype

DEFF Research Database (Denmark)

Sanders, Jason L; Minster, Ryan L; Barmada, M Michael

2014-01-01

Longevity-associated genes may modulate risk for age-related diseases and survival. The Healthy Aging Index (HAI) may be a subphenotype of longevity, which can be constructed in many studies for genetic analysis. We investigated the HAI's association with survival in the Cardiovascular Health Stu...... and heritability in the Long Life Family Study....

Heritability of eleven metabolic phenotypes in Danish and Chinese twins

DEFF Research Database (Denmark)

Li, Shuxia; Duan, Hongmei; Pang, Zengchang

2013-01-01

modeling was performed on full and nested models with the best fitting models selected. Results: Heritability estimates were compared between Danish and Chinese samples to identify differential genetic influences on each of the phenotypes. Except for hip circumference, all other body measures exhibited...

Twin study of heritability of eating bread in Danish and Finnish men and women.

Science.gov (United States)

Hasselbalch, Ann L; Silventoinen, Karri; Keskitalo, Kaisu; Pietiläinen, Kirsi H; Rissanen, Aila; Heitmann, Berit L; Kyvik, Kirsten O; Sørensen, Thorkild I A; Kaprio, Jaakko

2010-04-01

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 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 predisposition. Environmental factors shared by the co-twins (e.g., childhood environment) seem to have no significant effects on bread consumption and preference in adulthood.

Prevalence and heritability of psoriasis and benign migratory glossitis in one Brazilian population*

Science.gov (United States)

Jorge, Maria Augusta; Gonzaga, Heron Fernando de Sousa; Tomimori, Jane; Picciani, Bruna Lavinas Sayed; Barbosa, Calógeras Antônio

2017-01-01

Background An oral condition associated to psoriasis is benign migratory glossitis. The review of the literature does not show any publication about heritability in both soriasis and benign migratory glossitis and prevalence of psoriasis in the Brazilian population. Objective This research was carried out in order to determine the prevalence of psoriasis and benign migratory glossitis in the Brazilian population from a Brazilian sample, as well as the heritability in these conditions. Methods Six thousand patients were studied from the records of the outpatient dermatology department. The sample had 129 patients with cutaneous psoriasis, 399 with benign migratory glossitis without psoriasis and a control group with 5,472 patients. After data collection, the statistical analysis was made using Woolf, Chi-square and Falconer tests. Results The prevalence of psoriasis was 2.15% and the benign migratory glossitis was 7.0%. The prevalence of benign migratory glossitis in the psoriasis group was high (16.3%), and that was statistically significant. Family history in the psoriasis group was 38% for the condition itself and 2,75% for benign migratory glossitis and in the benign migratory glossitis group was 17.54% for the condition itself and 1.5% for psoriasis. The study of heritability was 38.8% for psoriasis and 36.6% for benign migratory glossitis, both with medium heritability. Study limitations This study was only in the state of São Paulo. Conclusion This is the first publication that quantifies how much of these conditions have a genetic background and how important the environmental factors are in triggering them. PMID:29364438

Survey of the Heritability and Sparse Architecture of Gene Expression Traits across Human Tissues.

Science.gov (United States)

Wheeler, Heather E; Shah, Kaanan P; Brenner, Jonathon; Garcia, Tzintzuni; Aquino-Michaels, Keston; Cox, Nancy J; Nicolae, Dan L; Im, Hae Kyung

2016-11-01

Understanding the genetic architecture of gene expression traits is key to elucidating the underlying mechanisms of complex traits. Here, for the first time, we perform a systematic survey of the heritability and the distribution of effect sizes across all representative tissues in the human body. We find that local h2 can be relatively well characterized with 59% of expressed genes showing significant h2 (FDR Decomposition (OTD) approach. Through a series of simulations we show that the cross-tissue and tissue-specific components are identifiable via OTD. Heritability and sparsity estimates of these derived expression phenotypes show similar characteristics to the original traits. Consistent properties relative to prior GTEx multi-tissue analysis results suggest that these traits reflect the expected biology. Finally, we apply this knowledge to develop prediction models of gene expression traits for all tissues. The prediction models, heritability, and prediction performance R2 for original and decomposed expression phenotypes are made publicly available (https://github.com/hakyimlab/PrediXcan).

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...

Heritability and confirmation of genetic association studies for childhood asthma in twins.

Science.gov (United States)

Ullemar, V; Magnusson, P K E; Lundholm, C; Zettergren, A; Melén, E; Lichtenstein, P; Almqvist, C

2016-02-01

Although the genetics of asthma has been extensively studied using both quantitative and molecular genetic analysis methods, both approaches lack studies specific to the childhood phenotype and including other allergic diseases. This study aimed to give specific estimates for the heritability of childhood asthma and other allergic diseases, to attempt to replicate findings from genomewide association studies (GWAS) for childhood asthma and to test the same variants against other allergic diseases. In a cohort of 25 306 Swedish twins aged 9 or 12 years, data on asthma were available from parental interviews and population-based registers. The interviews also inquired about wheeze, hay fever, eczema, and food allergy. Through structural equation modeling, the heritability of all phenotypes was calculated. A subset of 10 075 twins was genotyped for 16 single nucleotide polymorphisms (SNPs) selected from previous GWAS; these were first tested for association with asthma and significant findings also against the other allergic diseases. The heritability of any childhood asthma was 0.82 (95% CI 0.79-0.85). For the other allergic diseases, the range was approximately 0.60-0.80. Associations for six SNPs with asthma were replicated, including rs2305480 in the GSDMB gene (OR 0.80, 95% CI 0.74-0.86, P = 1.5*10(-8) ; other significant associations all below P = 3.5*10(-4) ). Of these, only rs3771180 in IL1RL1 was associated with any other allergic disease (for hay fever, OR 0.64, 95% CI 0.53-0.77, P = 2.5*10(-6) ). Asthma and allergic diseases of childhood are highly heritable, and these high-risk genetic variants associated specifically with childhood asthma, except for one SNP shared with hay fever. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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.

Reliability demonstration of imaging surveillance systems

International Nuclear Information System (INIS)

Sheridan, T.F.; Henderson, J.T.; MacDiarmid, P.R.

1979-01-01

Security surveillance systems which employ closed circuit television are being deployed with increasing frequency for the protection of property and other valuable assets. A need exists to demonstrate the reliability of such systems before their installation to assure that the deployed systems will operate when needed with only the scheduled amount of maintenance and support costs. An approach to the reliability demonstration of imaging surveillance systems which employ closed circuit television is described. Failure definitions based on industry television standards and imaging alarm assessment criteria for surveillance systems are discussed. Test methods which allow 24 hour a day operation without the need for numerous test scenarios, test personnel and elaborate test facilities are presented. Existing reliability demonstration standards are shown to apply which obviate the need for elaborate statistical tests. The demonstration methods employed are shown to have applications in other types of imaging surveillance systems besides closed circuit television

Heritability estimates for Mycobacterium avium subspecies paratuberculosis status of German Holstein cows tested by fecal culture.

Science.gov (United States)

Küpper, J; Brandt, H; Donat, K; Erhardt, G

2012-05-01

The objective of this study was to estimate genetic manifestation of Mycobacterium avium ssp. paratuberculosis (MAP) infection in German Holstein cows. Incorporated into this study were 11,285 German Holstein herd book cows classified as MAP-positive and MAP-negative animals using fecal culture results and originating from 15 farms in Thuringia, Germany involved in a paratuberculosis voluntary control program from 2008 to 2009. The frequency of MAP-positive animals per farm ranged from 2.7 to 67.6%. The fixed effects of farm and lactation number had a highly significant effect on MAP status. An increase in the frequency of positive animals from the first to the third lactation could be observed. Threshold animal and sire models with sire relationship were used as statistical models to estimate genetic parameters. Heritability estimates of fecal culture varied from 0.157 to 0.228. To analyze the effect of prevalence on genetic parameter estimates, the total data set was divided into 2 subsets of data into farms with prevalence rates below 10% and those above 10%. The data set with prevalence above 10% show higher heritability estimates in both models compared with the data set with prevalence below 10%. For all data sets, the sire model shows higher heritabilities than the equivalent animal model. This study demonstrates that genetic variation exists in dairy cattle for paratuberculosis infection susceptibility and furthermore, leads to the conclusion that MAP detection by fecal culture shows a higher genetic background than ELISA test results. In conclusion, fecal culture seems to be a better trait to control the disease, as well as an appropriate feature for further genomic analyses to detect MAP-associated chromosome regions. Copyright © 2012 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

Disentangling environmental and heritable nestmate recognition cues in a carpenter ant

DEFF Research Database (Denmark)

van Zweden, Jelle S; Dreier, Stephanie; d'Ettorre, Patrizia

2009-01-01

Discriminating between group members and strangers is a key feature of social life. Nestmate recognition is very effective in social insects and is manifested by aggression and rejection of alien individuals, which are prohibited to enter the nest. Nestmate recognition is based on the quantitative...... variation in cuticular hydrocarbons, which can include heritable cues from the workers, as well as acquired cues from the environment or queen-derived cues. We tracked the profile of six colonies of the ant Camponotus aethiops for a year under homogeneous laboratory conditions. We performed chemical...... diagnostic power between colonies. The presence of a queen had little influence on nestmate discrimination abilities. Our results suggest that heritable cues of workers are the dominant factor influencing nestmate discrimination in these carpenter ants and highlight the importance of colony kin structure...

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

African Journals Online (AJOL)

Heritability and correlates of maize yield ( Zea mays L .) under varying drought conditions. ... Nigeria Agricultural Journal ... Correlation analysis revealed that days to 50% tasseling and silking under non-stress, ASI and leaf senescence under severe stress exhibited negative and significant correlations with grain yield.

Heritability and genetic advance studies for biochemical traits in F2-3 introgressed families of Brassica

International Nuclear Information System (INIS)

Farhatullah, N.K.; Khalil, I.H.; Nahed, H.

2015-01-01

Higher heritability estimates along with high genetic advance values are effective in envisaging gain under selection in developing genotypes. The objective of the present study was to evaluate variability, heritability and genetic advance in 10 interspecific F2-3 families of Brassica species (B. napus * B. juncea, B. napus * B. rapa). These families were studied for heterospecific introgression of biochemical traits. Low to high heritability estimates were recorded for seed quality traits. Considerable variations within F2-3 families were observed for biochemical traits. Most of the F2-3 families for oil content and erucic showed moderate to high heritability indicating the slightest influence of environment thus modification of trait by selection would be more effective. Among F2-3 introgressed families Bn-510 x Bj-109 produced high oil i.e., 49.5% while Bn-532 x Br-118 (24.4%), Bn-533 x Bj-109 (24.1%) and high protein percentage in terms of mean performance. In the present research, individual segregating progenies of interspecific cross populations i.e., which possessed combination of desirable traits, were identified which could be incorporated in the future Breeding programs and it may facilitate varietal development. (author)

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...... environmental effects explained most variation in caffeine AUC. Apparently, smoking and hormonal contraceptives masked the genetic effects on CYP1A2 activity. However, when excluding smokers and users of hormonal contraceptives, 89% of caffeine AUC variation was due to genetic effects and even in the entire...... group, 8% of caffeine AUC variation could be explained by a CYP1A1/1A2 promotor polymorphism (rs2470893). In contrast, nearly all of the variation (99%) of NAT2 activity was explained by genetic effects. This study illustrates two very different situations in pharmacogenetics, from an almost exclusively...

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

African Journals Online (AJOL)

SH

The heritability estimates were 0.00 ± 0.04 for litter size at weaning and. 0.37 ± 0.12 for ... not sustainable in South-western Nigeria. Balogun (1981) ... sources for the people that eat pork. Dalton ... size and on body weight at birth and at weaning of .... Indigenous and Large White Pigs in a humid tropical environment. Asian.

Dissecting HIV Virulence: Heritability of Setpoint Viral Load, CD4+ T-Cell Decline, and Per-Parasite Pathogenicity.

Science.gov (United States)

Bertels, Frederic; Marzel, Alex; Leventhal, Gabriel; Mitov, Venelin; Fellay, Jacques; Günthard, Huldrych F; Böni, Jürg; Yerly, Sabine; Klimkait, Thomas; Aubert, Vincent; Battegay, Manuel; Rauch, Andri; Cavassini, Matthias; Calmy, Alexandra; Bernasconi, Enos; Schmid, Patrick; Scherrer, Alexandra U; Müller, Viktor; Bonhoeffer, Sebastian; Kouyos, Roger; Regoes, Roland R

2018-01-01

Pathogen strains may differ in virulence because they attain different loads in their hosts, or because they induce different disease-causing mechanisms independent of their load. In evolutionary ecology, the latter is referred to as "per-parasite pathogenicity". Using viral load and CD4+ T-cell measures from 2014 HIV-1 subtype B-infected individuals enrolled in the Swiss HIV Cohort Study, we investigated if virulence-measured as the rate of decline of CD4+ T cells-and per-parasite pathogenicity are heritable from donor to recipient. We estimated heritability by donor-recipient regressions applied to 196 previously identified transmission pairs, and by phylogenetic mixed models applied to a phylogenetic tree inferred from HIV pol sequences. Regressing the CD4+ T-cell declines and per-parasite pathogenicities of the transmission pairs did not yield heritability estimates significantly different from zero. With the phylogenetic mixed model, however, our best estimate for the heritability of the CD4+ T-cell decline is 17% (5-30%), and that of the per-parasite pathogenicity is 17% (4-29%). Further, we confirm that the set-point viral load is heritable, and estimate a heritability of 29% (12-46%). Interestingly, the pattern of evolution of all these traits differs significantly from neutrality, and is most consistent with stabilizing selection for the set-point viral load, and with directional selection for the CD4+ T-cell decline and the per-parasite pathogenicity. Our analysis shows that the viral genotype affects virulence mainly by modulating the per-parasite pathogenicity, while the indirect effect via the set-point viral load is minor. © The Author 2017. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

Host-race formation: promoted by phenology, constrained by heritability.

Science.gov (United States)

Whipple, A V; Abrahamson, W G; Khamiss, M A; Heinrich, P L; Urian, A G; Northridge, E M

2009-04-01

Host-race formation is promoted by genetic trade-offs in the ability of herbivores to use alternate hosts, including trade-offs due to differential timing of host-plant availability. We examined the role of phenology in limiting host-plant use in the goldenrod gall fly (Eurosta solidaginis) by determining: (1) whether phenology limits alternate host use, leading to a trade-off that could cause divergent selection on Eurosta emergence time and (2) whether Eurosta has the genetic capacity to respond to such selection in the face of existing environmental variation. Experiments demonstrated that oviposition and gall induction on the alternate host, Solidago canadensis, were the highest on young plants, whereas the highest levels of gall induction on the normal host, Solidago gigantea, occurred on intermediate-age plants. These findings indicate a phenological trade-off for host-plant use that sets up the possibility of divergent selection on emergence time. Heritability, estimated by parent-offspring regression, indicated that host-race formation is impeded by the amount of genetic variation, relative to environmental, for emergence time.

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

Repeatability and heritability of reproductive traits in free-ranging snakes.

Science.gov (United States)

Brown, G P; Shine, R

2007-03-01

The underlying genetic basis of life-history traits in free-ranging animals is critical to the effects of selection on such traits, but logistical constraints mean that such data are rarely available. Our long-term ecological studies on free-ranging oviparous snakes (keelbacks, Tropidonophis mairii (Gray, 1841), Colubridae) on an Australian floodplain provide the first such data for any tropical reptile. All size-corrected reproductive traits (egg mass, clutch size, clutch mass and post-partum maternal mass) were moderately repeatable between pairs of clutches produced by 69 female snakes after intervals of 49-1152 days, perhaps because maternal body condition was similar between clutches. Parent-offspring regression of reproductive traits of 59 pairs of mothers and daughters revealed high heritability for egg mass (h2= 0.73, SE=0.24), whereas heritability for the other three traits was low (snakes occurs because each female snake must allocate a finite amount of energy into eggs of a genetically determined size.

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

Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation

DEFF Research Database (Denmark)

Gusev, Alexander; Shi, Huwenbo; Kichaev, Gleb

2016-01-01

Although genome-wide association studies have identified over 100 risk loci that explain ∼33% of familial risk for prostate cancer (PrCa), their functional effects on risk remain largely unknown. Here we use genotype data from 59,089 men of European and African American ancestries combined...... with cell-type-specific epigenetic data to build a genomic atlas of single-nucleotide polymorphism (SNP) heritability in PrCa. We find significant differences in heritability between variants in prostate-relevant epigenetic marks defined in normal versus tumour tissue as well as between tissue and cell...... lines. The majority of SNP heritability lies in regions marked by H3k27 acetylation in prostate adenoc7arcinoma cell line (LNCaP) or by DNaseI hypersensitive sites in cancer cell lines. We find a high degree of similarity between European and African American ancestries suggesting a similar genetic...

Does the heritability of cognitive abilities vary as a function of parental education? Evidence from a German twin sample.

Science.gov (United States)

Spengler, Marion; Gottschling, Juliana; Hahn, Elisabeth; Tucker-Drob, Elliot M; Harzer, Claudia; Spinath, Frank M

2018-01-01

A well-known hypothesis in the behavioral genetic literature predicts that the heritability of cognitive abilities is higher in the presence of higher socioeconomic contexts. However, studies suggest that the effect of socioeconomic status (SES) on the heritability of cognitive ability may not be universal, as it has mostly been demonstrated in the United States, but not in other Western nations. In the present study we tested whether the importance of genetic and environmental effects on cognitive abilities varies as a function of parental education in a German twin sample. Cognitive ability scores (general, verbal, and nonverbal) were obtained on 531 German twin pairs (192 monozygotic, 339 dizygotic, ranging from 7 to 14 years of age; Mage = 10.25, SD = 1.83). Data on parental education were available from mothers and fathers. Results for general cognitive ability and nonverbal ability indicated no significant gene x parental education interaction effect. For verbal ability, a significant nonshared environment (E) x parental education interaction was found in the direction of greater nonshared environmental influences on verbal abilities among children raised by more educated parents.

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.

Identification and characterization of porcine mannan-binding lectin A (pMBL-A), and determination of serum concentration heritability

DEFF Research Database (Denmark)

Juul-Madsen, Helle R.; Krogh-Meibom, Thomas; Heryon, Mark

2006-01-01

antibodies to this protein and established an immunoassay to quantify pMBL-A in serum. Using this assay, we found breed differences in pMBL-A concentration distributions and heritability estimates. In the Duroc breed (n=588), pMBL-A concentrations show a unimodal distribution with a mean of 9,125 ng....../ml. In contrast, the pMBL-A concentration distributions in the Landrace breed (n=533) show three distinct mean values: 301, 2,385, and 11,507 ng/ml. Furthermore, heritability calculations based on an additive genetic variance model with no fixed effects indicate that serum pMBL-A concentration is highly heritable...

Heritability and Components of Resistance to Cercospora zeae-maydis Derived from Maize Inbred VO613Y.

Science.gov (United States)

Gordon, Stuart G; Lipps, Patrick E; Pratt, Richard C

2006-06-01

ABSTRACT Gray leaf spot (GLS), caused by the fungus Cercospora zeae-maydis, is one of the most important foliar diseases of maize. This study was undertaken to estimate heritability of C. zeae-maydis resistance and examine the relationship between previously identified resistance loci and certain components of resistance including incubation period, lesion number, and maximum lesion length. Partially inbred progenies arising from hybridization between maize inbred lines VO613Y (high level of partial resistance) and Pa405 (susceptible) were examined in Ohio and South Africa. Heritability estimates of resistance were calculated based on severity and incubation period values. The range of heritability estimates based on severity was broad, with values ranging from approximately 0.46 to 0.81 (mean = 0.59). Estimates of mean heritability for incubation period were lowest (0.18), indicating that this component would likely be unsuitable for selection of germ plasm intended for deployment in diverse regions. Length of GLS lesions was significantly affected by host genotype, with resistant genotypes having shorter lesions from one site in Ohio during two seasons. Genotype also had a significant effect on incubation period and lesion number; the lower values for these components also were associated with resistant genotypes. The combined action of these resistance components resulted in lower overall disease severity.

Heritability and Seasonal Changes in Viscosity of Slash Pine Oleoresin

Science.gov (United States)

Robert D. McReynolds

1971-01-01

Oleoresin viscosity was measured in slash pine (Pinus elliottii var. elliottii) trees of known genetic origin over a 1-year period. A strong broad-sense heritability of this trait was found. Seasonal variation followed a definite pattern, with the highest viscosities occurring in early spring and a gradual decline occurring in...

The heritability of cluster A personality disorders assessed by both personal interview and questionnaire.

Science.gov (United States)

Kendler, Kenneth S; Myers, John; Torgersen, Svenn; Neale, Michael C; Reichborn-Kjennerud, Ted

2007-05-01

Personality disorders (PDs) as assessed by questionnaires and personal interviews are heritable. However, we know neither how much unreliability of measurement impacts on heritability estimates nor whether the genetic and environmental risk factors assessed by these two methods are the same. We wish to know whether the same set of PD vulnerability factors are assessed by these two methods. A total of 3334 young adult twin pairs from the Norwegian Institute of Public Health Twin Panel (NIPHTP) completed a questionnaire containing 91 PD items. One to 6 years later, 1386 of these pairs were interviewed with the Structured Interview for DSM-IV Personality (SIDP-IV). Self-report items predicting interview results were selected by regression. Measurement models were fitted using Mx. In the best-fit models, the latent liabilities to paranoid personality disorder (PPD), schizoid personality disorder (SPD) and schizotypal personality disorder (STPD) were all highly heritable with no evidence of shared environmental effects. For PPD and STPD, only unique environmental effects were specific to the interview measure whereas both environmental and genetic effects were found to be specific to the questionnaire assessment. For SPD, the best-fit model contained genetic and environmental effects specific to both forms of assessment. The latent liabilities to the cluster A PDs are highly heritable but are assessed by current methods with only moderate reliability. The personal interviews assessed the genetic risk for the latent trait with excellent specificity for PPD and STPD and good specificity for SPD. However, for all three PDs, the questionnaires were less specific, also indexing an independent set of genetic risk factors.

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

2012-12-01

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.

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

2017-12-01

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.

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.

Heritability estimates on resting state fMRI data using ENIGMA analysis pipeline.

Science.gov (United States)

Adhikari, Bhim M; Jahanshad, Neda; Shukla, Dinesh; Glahn, David C; Blangero, John; Reynolds, Richard C; Cox, Robert W; Fieremans, Els; Veraart, Jelle; Novikov, Dmitry S; Nichols, Thomas E; Hong, L Elliot; Thompson, Paul M; Kochunov, Peter

2018-01-01

Big data initiatives such as the Enhancing NeuroImaging Genetics through Meta-Analysis consortium (ENIGMA), combine data collected by independent studies worldwide to achieve more generalizable estimates of effect sizes and more reliable and reproducible outcomes. Such efforts require harmonized image analyses protocols to extract phenotypes consistently. This harmonization is particularly challenging for resting state fMRI due to the wide variability of acquisition protocols and scanner platforms; this leads to site-to-site variance in quality, resolution and temporal signal-to-noise ratio (tSNR). An effective harmonization should provide optimal measures for data of different qualities. We developed a multi-site rsfMRI analysis pipeline to allow research groups around the world to process rsfMRI scans in a harmonized way, to extract consistent and quantitative measurements of connectivity and to perform coordinated statistical tests. We used the single-modality ENIGMA rsfMRI preprocessing pipeline based on modelfree Marchenko-Pastur PCA based denoising to verify and replicate resting state network heritability estimates. We analyzed two independent cohorts, GOBS (Genetics of Brain Structure) and HCP (the Human Connectome Project), which collected data using conventional and connectomics oriented fMRI protocols, respectively. We used seed-based connectivity and dual-regression approaches to show that the rsfMRI signal is consistently heritable across twenty major functional network measures. Heritability values of 20-40% were observed across both cohorts.

Familial Risk and Heritability of Cancer Among Twins in Nordic Countries

DEFF Research Database (Denmark)

Mucci, Lorelei A.; Hjelmborg, Jacob B.; Harris, Jennifer R.

2016-01-01

Importance: Estimates of familial cancer risk from population-based studies are essential components of cancer risk prediction. Objective: To estimate familial risk and heritability of cancer types in a large twin cohort. Design, Setting, and Participants: Prospective study of 80 309 monozygotic ...

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

NARCIS (Netherlands)

Verhoeven, K.J.F.; Jansen, J.J.; Van 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

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

Orbital Express fluid transfer demonstration system

Science.gov (United States)

Rotenberger, Scott; SooHoo, David; Abraham, Gabriel

2008-04-01

Propellant resupply of orbiting spacecraft is no longer in the realm of high risk development. The recently concluded Orbital Express (OE) mission included a fluid transfer demonstration that operated the hardware and control logic in space, bringing the Technology Readiness Level to a solid TRL 7 (demonstration of a system prototype in an operational environment). Orbital Express (funded by the Defense Advanced Research Projects Agency, DARPA) was launched aboard an Atlas-V rocket on March 9th, 2007. The mission had the objective of demonstrating technologies needed for routine servicing of spacecraft, namely autonomous rendezvous and docking, propellant resupply, and orbital replacement unit transfer. The demonstration system used two spacecraft. A servicing vehicle (ASTRO) performed multiple dockings with the client (NextSat) spacecraft, and performed a variety of propellant transfers in addition to exchanges of a battery and computer. The fluid transfer and propulsion system onboard ASTRO, in addition to providing the six degree-of-freedom (6 DOF) thruster system for rendezvous and docking, demonstrated autonomous transfer of monopropellant hydrazine to or from the NextSat spacecraft 15 times while on orbit. The fluid transfer system aboard the NextSat vehicle was designed to simulate a variety of client systems, including both blowdown pressurization and pressure regulated propulsion systems. The fluid transfer demonstrations started with a low level of autonomy, where ground controllers were allowed to review the status of the demonstration at numerous points before authorizing the next steps to be performed. The final transfers were performed at a full autonomy level where the ground authorized the start of a transfer sequence and then monitored data as the transfer proceeded. The major steps of a fluid transfer included the following: mate of the coupling, leak check of the coupling, venting of the coupling, priming of the coupling, fluid transfer, gauging

Nature or Nurture? Determining the Heritability of Human Striatal Dopamine Function: an [18F]-DOPA PET Study

Science.gov (United States)

Stokes, Paul R A; Shotbolt, Paul; Mehta, Mitul A; Turkheimer, Eric; Benecke, Aaf; Copeland, Caroline; Turkheimer, Federico E; Lingford-Hughes, Anne R; Howes, Oliver D

2013-01-01

Striatal dopamine function is important for normal personality, cognitive processes and behavior, and abnormalities are linked to a number of neuropsychiatric disorders. However, no studies have examined the relative influence of genetic inheritance and environmental factors in determining striatal dopamine function. Using [18F]-DOPA positron emission tomography (PET), we sought to determine the heritability of presynaptic striatal dopamine function by comparing variability in uptake values in same sex monozygotic (MZ) twins to dizygotic (DZ) twins. Nine MZ and 10 DZ twin pairs underwent high-resolution [18F]-DOPA PET to assess presynaptic striatal dopamine function. Uptake values for the overall striatum and functional striatal subdivisions were determined by a Patlak analysis using a cerebellar reference region. Heritability, shared environmental effects and non-shared individual-specific effects were estimated using a region of interest (ROI) analysis and a confirmatory parametric analysis. Overall striatal heritability estimates from the ROI and parametric analyses were 0.44 and 0.33, respectively. We found a distinction between striatal heritability in the functional subdivisions, with the greatest heritability estimates occurring in the sensorimotor striatum and the greatest effect of individual-specific environmental factors in the limbic striatum. Our results indicate that variation in overall presynaptic striatal dopamine function is determined by a combination of genetic factors and individual-specific environmental factors, with familial environmental effects having no effect. These findings underline the importance of individual-specific environmental factors for striatal dopaminergic function, particularly in the limbic striatum, with implications for understanding neuropsychiatric disorders such as schizophrenia and addictions. PMID:23093224

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.

2016-01-01

Objective Phenotypic heterogeneity in Tourette syndrome (TS) is partly due to complex genetic relationships between TS, obsessive-compulsive disorder (OCD) and attention deficit/hyperactivity disorder (ADHD). Identifying symptom-based endophenotypes across diagnoses may aid gene-finding efforts. Method 3494 individuals recruited for genetic studies were assessed for TS, OCD, and ADHD symptoms. Symptom-level factor and latent class analyses were conducted in TS families and replicated in an independent sample. Classes were characterized by comorbidity rates and proportion of parents. Heritability and TS-, OCD-, and ADHD-associated polygenic load were estimated. Results We 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 (disinhibition factor= 0.35, SE=0.03, p= 4.2 ×10−34; symmetry factor= 0.39, SE=0.03, p= 7.2 ×10−31; symmetry class=0.38, SE=0.10, p=0.001). Mothers of TS probands had high rates of symmetry (49%) but not disinhibition (5%). Polygenic risk scores derived from a TS genome-wide association study (GWAS) were associated with symmetry (p= 0.02), while risk scores derived from an OCD GWAS were not. OCD polygenic risk scores were associated with disinhibition (p =0.03), while TS and ADHD risk scores were not. Conclusions We identified two heritable TS-related endophenotypes that cross traditional diagnostic boundaries. The symmetry phenotype correlated with TS polygenic load, and was present in otherwise “TS-unaffected” mothers, suggesting that this phenotype may reflect additional TS (rather than OCD) genetic liability that is not captured by traditional DSM-based diagnoses. PMID:27809572

Aorta measurements are heritable and influenced by bicuspid aortic valve

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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.

Revertant Mosaicism in Heritable Skin Diseases - Mechanisms of Natural Gene Therapy

NARCIS (Netherlands)

Pasmooij, Anna M. G.; Jonkman, Marcel F.; Uitto, Jouni

Revertant mosaicism (RM) refers to the co-existence of cells carrying disease-causing mutations with cells in which the inherited mutation is genetically corrected by a spontaneous event. It has been discovered in an increasing number of heritable skin diseases: ichthyosis with confetti and

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

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

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

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.

Heritability estimates for methane emission in Holstein cows using breath measurements

DEFF Research Database (Denmark)

Lassen, Jan; Madsen, Jørgen; Løvendahl, Peter

2012-01-01

Enteric methane emission from ruminants contributes substantially to the greenhouse effect. Few studies have focused on the genetic variation in enteric methane emission from dairy cattle. The objective of this study was to estimate the heritability for enteric methane emission from Danish Holste...... to ketosis....

Human somatic, germinal and heritable mutagenicity

International Nuclear Information System (INIS)

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

Modeling the Covariance Structure of Complex Datasets Using Cognitive Models: An Application to Individual Differences and the Heritability of Cognitive Ability.

Science.gov (United States)

Evans, Nathan J; Steyvers, Mark; Brown, Scott D

2018-06-05

Understanding individual differences in cognitive performance is an important part of understanding how variations in underlying cognitive processes can result in variations in task performance. However, the exploration of individual differences in the components of the decision process-such as cognitive processing speed, response caution, and motor execution speed-in previous research has been limited. Here, we assess the heritability of the components of the decision process, with heritability having been a common aspect of individual differences research within other areas of cognition. Importantly, a limitation of previous work on cognitive heritability is the underlying assumption that variability in response times solely reflects variability in the speed of cognitive processing. This assumption has been problematic in other domains, due to the confounding effects of caution and motor execution speed on observed response times. We extend a cognitive model of decision-making to account for relatedness structure in a twin study paradigm. This approach can separately quantify different contributions to the heritability of response time. Using data from the Human Connectome Project, we find strong evidence for the heritability of response caution, and more ambiguous evidence for the heritability of cognitive processing speed and motor execution speed. Our study suggests that the assumption made in previous studies-that the heritability of cognitive ability is based on cognitive processing speed-may be incorrect. More generally, our methodology provides a useful avenue for future research in complex data that aims to analyze cognitive traits across different sources of related data, whether the relation is between people, tasks, experimental phases, or methods of measurement. © 2018 Cognitive Science Society, Inc.

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

Heritability of blood pressure traits and the genetic contribution to blood pressure variance explained by four blood-pressure-related genes.

NARCIS (Netherlands)

Rijn, M.J. van; Schut, A.F.; Aulchenko, Y.S.; Deinum, J.; Sayed-Tabatabaei, F.A.; Yazdanpanah, M.; Isaacs, A.; Axenovich, T.I.; Zorkoltseva, I.V.; Zillikens, M.C.; Pols, H.A.; Witteman, J.C.; Oostra, B.A.; Duijn, C.M. van

2007-01-01

OBJECTIVE: To study the heritability of four blood pressure traits and the proportion of variance explained by four blood-pressure-related genes. METHODS: All participants are members of an extended pedigree from a Dutch genetically isolated population. Heritability and genetic correlations of

Heritability and tissue specificity of expression quantitative trait loci

Czech Academy of Sciences Publication Activity Database

Petretto, E.; Mangion, J.; Dickens, N. J.; Cook, S.A.; Kumaran, M. K.; Lu, H.; Fischer, J.; Maatz, H.; Křen, Vladimír; Pravenec, Michal; Hubner, N.; Aitman, T. J.

2006-01-01

Roč. 2, č. 10 (2006), s. 1625-1633 ISSN 1553-7390 R&D Projects: GA MŠk(CZ) 1M0520; GA ČR(CZ) GA301/06/0028; GA ČR(CZ) GA301/04/0390 Grant - others:HHMI(US) 55005624 Institutional research plan: CEZ:AV0Z50110509 Keywords : expression QTL * heritability * tissue specificity Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 7.671, year: 2006

Heritability of Intraindividual Mean and Variability of Positive and Negative Affect.

Science.gov (United States)

Zheng, Yao; Plomin, Robert; von Stumm, Sophie

2016-12-01

Positive affect (e.g., attentiveness) and negative affect (e.g., upset) fluctuate over time. We examined genetic influences on interindividual differences in the day-to-day variability of affect (i.e., ups and downs) and in average affect over the duration of a month. Once a day, 17-year-old twins in the United Kingdom ( N = 447) rated their positive and negative affect online. The mean and standard deviation of each individual's daily ratings across the month were used as the measures of that individual's average affect and variability of affect. Analyses revealed that the average of negative affect was significantly heritable (.53), but the average of positive affect was not; instead, the latter showed significant shared environmental influences (.42). Fluctuations across the month were significantly heritable for both negative affect (.54) and positive affect (.34). The findings support the two-factor theory of affect, which posits that positive affect is more situational and negative affect is more dispositional.

Calcification of intervertebral discs in the Dachshund: An estimation of heritability

Energy Technology Data Exchange (ETDEWEB)

Stigen, Ø. [Norges Veterinaerhoegskole, Oslo (Norway); Christensen, K.

1993-07-01

The heritability of calcified intervertebral discs in the dachshund was estimated using data gathered from a radiographic study. Radiographs of the vertebral columns of 274 clinically normal, 12 to 18 months old dachshunds, were examined. The dogs were offspring from 75 different sires, representing the same number of half sib groups. There were 2 to 14 offspring in each half-sib group. The number of full sib groups was 81. Calcified intervertebral discs were identified in 20.4% of the dogs. An analysis of variance that used the data as a continuous and as an either/or-variable estimated the heritability of calcified discs to be 0.22 and 0.15 respectively. A genetic factor was found to be essential for the occurrence of calcified discs in a dog while a common environmental factor presumably resulting from non-genetic causes was significant in determining the number of discs to undergo calcification in affected dogs.

Pathway-based factor analysis of gene expression data produces highly heritable phenotypes that associate with age.

Science.gov (United States)

Anand Brown, Andrew; Ding, Zhihao; Viñuela, Ana; Glass, Dan; Parts, Leopold; Spector, Tim; Winn, John; Durbin, Richard

2015-03-09

Statistical factor analysis methods have previously been used to remove noise components from high-dimensional data prior to genetic association mapping and, in a guided fashion, to summarize biologically relevant sources of variation. Here, we show how the derived factors summarizing pathway expression can be used to analyze the relationships between expression, heritability, and aging. We used skin gene expression data from 647 twins from the MuTHER Consortium and applied factor analysis to concisely summarize patterns of gene expression to remove broad confounding influences and to produce concise pathway-level phenotypes. We derived 930 "pathway phenotypes" that summarized patterns of variation across 186 KEGG pathways (five phenotypes per pathway). We identified 69 significant associations of age with phenotype from 57 distinct KEGG pathways at a stringent Bonferroni threshold ([Formula: see text]). These phenotypes are more heritable ([Formula: see text]) than gene expression levels. On average, expression levels of 16% of genes within these pathways are associated with age. Several significant pathways relate to metabolizing sugars and fatty acids; others relate to insulin signaling. We have demonstrated that factor analysis methods combined with biological knowledge can produce more reliable phenotypes with less stochastic noise than the individual gene expression levels, which increases our power to discover biologically relevant associations. These phenotypes could also be applied to discover associations with other environmental factors. Copyright © 2015 Brown et al.

Heritability of Age-Related Hearing Loss in Middle-Aged and Elderly Chinese

DEFF Research Database (Denmark)

Duan, Haiping; Zhang, Dongfeng; Liang, Yajun

2018-01-01

OBJECTIVES: The heritability of age-related hearing loss has been studied mostly in developed countries. The authors aimed to estimate the heritability of better ear hearing level (BEHL), defined as hearing level of the better ear at a given frequency, and pure-tone averages at the middle (0.5, 1.......0, and 2.0 kHz) and high (4.0, 8.0, and 12.5 kHz) frequencies among middle-aged and elderly Chinese twins, and to explore their genetic correlations. DESIGN: This population-based twin study included 226 monozygotic and 132 dizygotic twin-pairs and 1 triplet (age range, 33 to 80 years; mean age, 51.......75 at high frequencies. CONCLUSIONS: This population-based twin study suggests that genetic factors are associated with age-related hearing loss at middle and high frequencies among middle-aged and elderly Chinese....

The Heritability of Prostate Cancer in the Nordic Twin Study of Cancer

DEFF Research Database (Denmark)

von Bornemann Hjelmborg, Jacob; Scheike, Thomas; Holst, Klaus

2014-01-01

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...... 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...... 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...

Evidence for a heritable predisposition to Chronic Fatigue Syndrome

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Bateman Lucinda

2011-05-01

Full Text Available Abstract Background Chronic Fatigue Syndrome (CFS came to attention in the 1980s, but initial investigations did not find organic causes. Now decades later, the etiology of CFS has yet to be understood, and the role of genetic predisposition in CFS remains controversial. Recent reports of CFS association with the retrovirus xenotropic murine leukemic virus-related virus (XMRV or other murine leukemia related retroviruses (MLV might also suggest underlying genetic implications within the host immune system. Methods We present analyses of familial clustering of CFS in a computerized genealogical resource linking multiple generations of genealogy data with medical diagnosis data of a large Utah health care system. We compare pair-wise relatedness among cases to expected relatedness in the Utah population, and we estimate risk for CFS for first, second, and third degree relatives of CFS cases. Results We observed significant excess relatedness of CFS cases compared to that expected in this population. Significant excess relatedness was observed for both close (p Conclusions These analyses provide strong support for a heritable contribution to predisposition to Chronic Fatigue Syndrome. A population of high-risk CFS pedigrees has been identified, the study of which may provide additional understanding.

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

The development of a handbook from heritable literature for desirable characteristics among Thai youths in schools in Bangkok

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Mali Mokaramanee

2015-11-01

Full Text Available This investigation was deigned to develop a teacher’s handbook for desirable characteristic creation from heritable literature for Thai youth in schools in Bangkok. The conceptual framework was developed by analyzing four pieces of heritable literature: Ramayana (King Rama I Issue, I-nao (King Rama II Issue, Khun Chang – Khun Phan (National Library Issue and Phra Aphai Mani (Sunthorn Phu Issue. The research results found that there are nine current problems that need to be overcome in order to develop desirable characteristics for youths in schools. There are additionally eight desirable characteristics that need to be developed among youths, based on the statement of the Office of the Basic Education Commission. The investigation found that families, social media, community and religious leaders and schools all have an important role in promoting or creating desirable characteristics for youths. The content analysis found that all but one piece of heritable literature analysed contained content according to the eight desirable characteristics for youths. The handbook developed from the four pieces of heritable literature could be divided into four books for each piece of literature, which can be used as classroom teaching materials to create desirable characteristics for youths.

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

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.

Heritable variation in maternally derived yolk androgens, thyroid hormones and immune factors

NARCIS (Netherlands)

Ruuskanen, S; Gienapp, P; Groothuis, T G G; Schaper, S V; Darras, V M; Pereira, C.; Vries, de Bonnie; Visser, Marcel

2016-01-01

Maternal reproductive investment can critically influence offspring phenotype, and thus these maternal effects are expected to be under strong natural selection. Knowledge on the extent of heritable variation in the physiological mechanisms underlying maternal effects is however limited. In birds,

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

Development and heritability of subcortical brain volumes at age 9 and 12

NARCIS (Netherlands)

Swagerman, S.C.; Brouwer, R.; de Geus, E.J.C.; Hulshoff Pol, H.E.; Boomsma, D.I.

2014-01-01

Subcortical brain structures are involved in a variety of cognitive and emotional functions and follow different trajectories of increase and decrease in volume from childhood to adulthood. The heritability of development of subcortical brain volumes during adolescence has not been studied

Sex-specific heritability of spontaneous lipid levels in an extended pedigree of Indian-origin rhesus macaques (Macaca mulatta.

Directory of Open Access Journals (Sweden)

Amanda Vinson

Full Text Available The rhesus macaque is an important model for human atherosclerosis but genetic determinants of relevant phenotypes have not yet been investigated in this species. Because lipid levels are well-established and heritable risk factors for human atherosclerosis, our goal was to assess the heritability of lipoprotein cholesterol and triglyceride levels in a single, extended pedigree of 1,289 Indian-origin rhesus macaques. Additionally, because increasing evidence supports sex differences in the genetic architecture of lipid levels and lipid metabolism in humans and macaques, we also explored sex-specific heritability for all lipid measures investigated in this study. Using standard methods, we measured lipoprotein cholesterol and triglyceride levels from fasted plasma in a sample of 193 pedigreed rhesus macaques selected for membership in large, paternal half-sib cohorts, and maintained on a low-fat, low cholesterol chow diet. Employing a variance components approach, we found moderate heritability for total cholesterol (h²=0.257, P=0.032, LDL cholesterol (h²=0.252, P=0.030, and triglyceride levels (h²=0.197, P=0.034 in the full sample. However, stratification by sex (N=68 males, N=125 females revealed substantial sex-specific heritability for total cholesterol (0.644, P=0.004, females only, HDL cholesterol (0.843, P=0.0008, females only, VLDL cholesterol (0.482, P=0.018, males only, and triglyceride levels (0.705, P=0.001, males only that was obscured or absent when sexes were combined in the full sample. We conclude that genes contribute to spontaneous variation in circulating lipid levels in the Indian-origin rhesus macaque in a sex-specific manner, and that the rhesus macaque is likely to be a valuable model for sex-specific genetic effects on lipid risk factors for human atherosclerosis. These findings are a first-ever report of heritability for cholesterol levels in this species, and support the need for expanded analysis of these traits in

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

Association with Mortality and Heritability of the Scale of Aging Vigor in Epidemiology (SAVE)

Science.gov (United States)

Sanders, Jason L.; Singh, Jatinder; Minster, Ryan L.; Walston, Jeremy D.; Matteini, Amy M.; Christensen, Kaare; Mayeux, Richard; Borecki, Ingrid B.; Perls, Thomas; Newman, Anne B.

2016-01-01

Background Vigor may be an important phenotype of healthy aging. Factors that prevent frailty or conversely promote vigor are of interest. Using the Long Life Family Study (LLFS), we investigated the association with 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/Setting Longitudinal, community-based cohort study of long lived individuals and their families (N=4075 genetically-related individuals) in the United States and Denmark. Methods The SAVE was measured in 3599 participants and included weight change, weakness (grip strength), fatigue (questionnaire), physical activity (days walked in prior 2 weeks), and slowness (gait speed), each component scored 0, 1 or 2 using approximate tertiles, and summed from 0 (vigorous) to 10 (frail). Heritability was determined with a variance-component based family analysis using a polygenic model. Association with mortality in the proband generation (N=1421) was calculated with Cox proportional hazards mixed effect models. Results Heritability of the SAVE was 0.23 (p = 1.72 × 10−13) overall (n=3599), 0.31 (p = 2.00 × 10−7) in probands (n=1479), and 0.26 (p = 2.00 × 10−6) in offspring (n=2120). In adjusted models, compared with lower SAVE scores (0–2), higher scores were associated with higher mortality (score 5–6 HR, 95%CI = 2.83, 1.46–5.51; score 7–10 HR, 95% CI = 3.40, 1.72–6.71). Conclusion The SAVE was associated with mortality and was moderately heritable in the LLFS, suggesting a genetic component to age-related vigor and frailty and supporting its use for further genetic analyses. PMID:27294813

Heritability estimates for yield and related traits in bread wheat

International Nuclear Information System (INIS)

Din, R.; Jehan, S.; Ibraullah, A.

2009-01-01

A set of 22 experimental wheat lines along with four check cultivars were evaluated in in-irrigated and unirrgated environments with objectives to determine genetic and phenotypic variation and heritability estimates for yield and its traits- The two environments were statistically at par for physiological maturity, plant height, spikes m/sub -2/. spike lets spike/sup -1/ and 1000-grain weight. Highly significant genetic variability existed among wheat lines (P < 0.0 I) in the combined analysis across two test environments for traits except 1000- grain weight. Genotypes x environment interactions were non-significant for traits indicating consistent performance of lines in two test environments. However lines and check cultivars were two to five days early in maturity under unirrigated environment. Plant height, spikes m/sup -2/ and 1000-grain weight also reduced under unirrigated environments. Genetic variances were greater than Environmental variances for most of traits- Heritability estimates were of higher magnitude (0.74 to 0.96) for plant height, medium (0.31 to 0.56) for physiological maturity. spikelets spike/sup -1/ (unirrigated) and 1000-grain weight, and low for spikes m/sup -2/. (author)

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.

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 ...

Common heritable effects underpin concerns over norm maintenance and in-group favoritism: evidence from genetic analyses of right-wing authoritarianism and traditionalism.

Science.gov (United States)

Lewis, Gary J; Bates, Timothy C

2014-08-01

Research has shown that in-group favoritism is associated with concerns over the maintenance of social norms. Here we present two studies examining whether genetic factors underpin this association. A classical twin design was used to decompose phenotypic variance into genetic and environmental components in two studies. Study 1 used 812 pairs of adult U.S. twins from the nationally representative MIDUS II sample. Study 2 used 707 pairs of middle-age twins from the Minnesota Twin Registry. In-group favoritism was measured with scales tapping preferences for in-group (vs. out-group) individuals; norm concerns were measured with the Multidimensional Personality Questionnaire-Traditionalism (Study 1) and Right-Wing Authoritarianism (RWA; Study 2) scales. In Study 1, heritable effects underlying traditionalism were moderately (c. 35%) overlapping with the genetic variance underpinning in-group favoritism. In Study 2, heritable influences on RWA were entirely shared with the heritable effects on in-group favoritism. Moreover, we observed that Big Five Openness shared common genetic links to both RWA and in-group favoritism. These results suggest that, at the genetic level, in-group favoritism is linked with a system related to concern over normative social practices, which is, in turn, partially associated with trait Openness. © 2013 Wiley Periodicals, Inc.

AVNG system demonstration

Energy Technology Data Exchange (ETDEWEB)

Thron, Jonathan Louis [Los Alamos National Laboratory; Mac Arthur, Duncan W [Los Alamos National Laboratory; Kondratov, Sergey [VNIIEF; Livke, Alexander [VNIIEF; Razinkov, Sergey [VNIIEF

2010-01-01

An attribute measurement system (AMS) measures a number of unclassified attributes of potentially classified material. By only displaying these unclassified results as red or green lights, the AMS protects potentially classified information while still generating confidence in the measurement result. The AVNG implementation that we describe is an AMS built by RFNC - VNIIEF in Sarov, Russia. To provide additional confidence, the AVNG was designed with two modes of operation. In the secure mode, potentially classified measurements can be made with only the simple red light/green light display. In the open mode, known unclassified material can be measured with complete display of the information collected from the radiation detectors. The AVNG demonstration, which occurred in Sarov, Russia in June 2009 for a joint US/Russian audience, included exercising both modes of AVNG operation using a number of multi-kg plutonium sources. In addition to describing the demonstration, we will show photographs and/or video taken of AVNG operation.

Transportable Vitrification System Demonstration on Mixed Waste

International Nuclear Information System (INIS)

Zamecnik, J.R.; Whitehouse, J.C.; Wilson, C.N.; Van Ryn, F.R.

1998-01-01

This paper describes preliminary results from the first demonstration of the Transportable Vitrification System (TVS) on actual mixed waste. The TVS is a fully integrated, transportable system for the treatment of mixed and low-level radioactive wastes. The demonstration was conducted at Oak Ridge's East Tennessee Technology Park (ETTP), formerly known as the K-25 site. The purpose of the demonstration was to show that mixed wastes could be vitrified safely on a 'field' scale using joule-heated melter technology and obtain information on system performance, waste form durability, air emissions, and costs

On the definition and utilization of heritable variation among hosts in reproduction ratio R0 for infectious diseases.

Science.gov (United States)

Anche, M T; de Jong, M C M; Bijma, P

2014-10-01

Infectious diseases have a major role in evolution by natural selection and pose a worldwide concern in livestock. Understanding quantitative genetics of infectious diseases, therefore, is essential both for understanding the consequences of natural selection and for designing artificial selection schemes in agriculture. The basic reproduction ratio, R0, is the key parameter determining risk and severity of infectious diseases. Genetic improvement for control of infectious diseases in host populations should therefore aim at reducing R0. This requires definitions of breeding value and heritable variation for R0, and understanding of mechanisms determining response to selection. This is challenging, as R0 is an emergent trait arising from interactions among individuals in the population. Here we show how to define breeding value and heritable variation for R0 for genetically heterogeneous host populations. Furthermore, we identify mechanisms determining utilization of heritable variation for R0. Using indirect genetic effects, next-generation matrices and a SIR (Susceptible, Infected and Recovered) model, we show that an individual's breeding value for R0 is a function of its own allele frequencies for susceptibility and infectivity and of population average susceptibility and infectivity. When interacting individuals are unrelated, selection for individual disease status captures heritable variation in susceptibility only, yielding limited response in R0. With related individuals, however, there is a secondary selection process, which also captures heritable variation in infectivity and additional variation in susceptibility, yielding substantially greater response. This shows that genetic variation in susceptibility represents an indirect genetic effect. As a consequence, response in R0 increased substantially when interacting individuals were genetically related.

Prevalence, heritability and genetic correlations of congenital sensorineural deafness and pigmentation phenotypes in the Border Collie.

Science.gov (United States)

De Risio, Luisa; Lewis, Tom; Freeman, Julia; de Stefani, Alberta; Matiasek, Lara; Blott, Sarah

2011-06-01

The objectives of this study were to estimate prevalence, heritability and genetic correlations of congenital sensorineural deafness (CSD) and pigmentation phenotypes in the Border Collie. Entire litters of Border Collies that presented to the Animal Health Trust (1994-2008) for assessment of hearing status by brain stem auditory evoked response (BAER) at 4-10 weeks of age were included. Heritability and genetic correlations were estimated using residual maximum likelihood (REML). Of 4143 puppies that met the inclusion criteria, 97.6% had normal hearing status, 2.0% were unilaterally deaf and 0.4% were bilaterally deaf. Heritability of deafness as a trichotomous trait (normal/unilaterally deaf/bilaterally deaf) was estimated at 0.42 using multivariate analysis. Genetic correlations of deafness with iris colour and merle coat colour were 0.58 and 0.26, respectively. These results indicate that there is a significant genetic effect on CSD in Border Collies and that some of the genes determining deafness also influence pigmentation phenotypes. Copyright © 2010 Elsevier Ltd. All rights reserved.

Metabolic syndrome-related composite factors over 5 years in the STANISLAS family study: genetic heritability and common environmental influences.

Science.gov (United States)

Herbeth, Bernard; Samara, Anastasia; Ndiaye, Coumba; Marteau, Jean-Brice; Berrahmoune, Hind; Siest, Gérard; Visvikis-Siest, Sophie

2010-06-03

We estimated genetic heritability and common environmental influences for various traits related to metabolic syndrome in young families from France. At entrance and after 5 years, nineteen traits related to metabolic syndrome were measured in a sample of families drawn from the STANISLAS study. In addition, 5 aggregates of these traits were identified using factor analysis. At entrance, genetic heritability was high (20 to 44%) for plasma lipids and lipoproteins, uric acid, fasting glucose, and the related clusters "risk lipids" and "protective lipids". Intermediate or low genetic heritability (less than 20%) was shown for triglycerides, adiposity indices, blood pressure, hepatic enzyme activity, inflammatory makers and the related clusters: "liver enzymes", "adiposity/blood pressure" and "inflammation". Moreover, common environmental influences were significant for all the parameters. With regard to 5-year changes, polygenic variance was low and not statistically significant for any of the individual variables or clusters whereas shared environment influence was significant. In these young families, genetic heritability of metabolic syndrome-related traits was generally lower than previously reported while the common environmental influences were greater. In addition, only shared environment contributed to short-term changes of these traits. Copyright 2010 Elsevier B.V. All rights reserved.

Exploration Medical System Demonstration

Science.gov (United States)

Rubin, D. A.; Watkins, S. D.

2014-01-01

BACKGROUND: Exploration class missions will present significant new challenges and hazards to the health of the astronauts. Regardless of the intended destination, beyond low Earth orbit a greater degree of crew autonomy will be required to diagnose medical conditions, develop treatment plans, and implement procedures due to limited communications with ground-based personnel. SCOPE: The Exploration Medical System Demonstration (EMSD) project will act as a test bed on the International Space Station (ISS) to demonstrate to crew and ground personnel that an end-to-end medical system can assist clinician and non-clinician crew members in optimizing medical care delivery and data management during an exploration mission. Challenges facing exploration mission medical care include limited resources, inability to evacuate to Earth during many mission phases, and potential rendering of medical care by non-clinicians. This system demonstrates the integration of medical devices and informatics tools for managing evidence and decision making and can be designed to assist crewmembers in nominal, non-emergent situations and in emergent situations when they may be suffering from performance decrements due to environmental, physiological or other factors. PROJECT OBJECTIVES: The objectives of the EMSD project are to: a. Reduce or eliminate the time required of an on-orbit crew and ground personnel to access, transfer, and manipulate medical data. b. Demonstrate that the on-orbit crew has the ability to access medical data/information via an intuitive and crew-friendly solution to aid in the treatment of a medical condition. c. Develop a common data management framework that can be ubiquitously used to automate repetitive data collection, management, and communications tasks for all activities pertaining to crew health and life sciences. d. Ensure crew access to medical data during periods of restricted ground communication. e. Develop a common data management framework that

Genotype-covariate interaction effects and the heritability of adult body mass index

NARCIS (Netherlands)

Robinson, Matthew R.; English, Geoffrey; Moser, Gerhard; Lloyd-Jones, Luke R; Triplett, Marcus A; Zhu, Zhihong; Nolte, Ilja M; van Vliet-Ostaptchouk, Jana V; Snieder, Harold; Esko, Tonu; Milani, Lili; Mägi, Reedik; Metspalu, Andres; Magnusson, Patrik K. E.; Pedersen, Nancy L.; Ingelsson, Erik; Johannesson, Magnus; Yang, Jian; Cesarini, David; Visscher, Peter M.

Obesity is a worldwide epidemic, with major health and economic costs. Here we estimate heritability for body mass index (BMI) in 172,000 sibling pairs and 150,832 unrelated individuals and explore the contribution of genotype-covariate interaction effects at common SNP loci. We find evidence for

Phylogenetic heritability of geographic range size in haematophagous ectoparasites: time of divergence and variation among continents.

Science.gov (United States)

Krasnov, Boris R; Shenbrot, Georgy I; van der Mescht, Luther; Warburton, Elizabeth M; Khokhlova, Irina S

2018-04-12

To understand existence, patterns and mechanisms behind phylogenetic heritability in the geographic range size (GRS) of parasites, we measured phylogenetic signal (PS) in the sizes of both regional (within a region) and continental (within a continent) geographic ranges of fleas in five regions. We asked whether (a) GRS is phylogenetically heritable and (b) the manifestation of PS varies between regions. We also asked whether geographic variation in PS reflects the effects of the environment's spatiotemporal stability (e.g. glaciation disrupting geographic ranges) or is associated with time since divergence (accumulation differences among species over time). Support for the former hypothesis would be indicated by stronger PS in southern than in northern regions, whereas support for the latter hypothesis would be shown by stronger PS in regions with a large proportion of species belonging to the derived lineages than in regions with a large proportion of species belonging to the basal lineages. We detected significant PS in both regional and continental GRSs of fleas from Canada and in continental GRS of fleas from Mongolia. No PS was found in the GRS of fleas from Australia and Southern Africa. Venezuelan fleas demonstrated significant PS in regional GRS only. Local Indicators of Phylogenetic Association detected significant local positive autocorrelations of GRS in some clades even in regions in which PS has not been detected across the entire phylogeny. This was mainly characteristic of younger taxa.

Effect of regulatory architecture on broad versus narrow sense heritability.

Directory of Open Access Journals (Sweden)

Yunpeng Wang

Full Text Available Additive genetic variance (VA and total genetic variance (VG are core concepts in biomedical, evolutionary and production-biology genetics. What determines the large variation in reported VA /VG ratios from line-cross experiments is not well understood. Here we report how the VA /VG ratio, and thus the ratio between narrow and broad sense heritability (h(2 /H(2 , varies as a function of the regulatory architecture underlying genotype-to-phenotype (GP maps. We studied five dynamic models (of the cAMP pathway, the glycolysis, the circadian rhythms, the cell cycle, and heart cell dynamics. We assumed genetic variation to be reflected in model parameters and extracted phenotypes summarizing the system dynamics. Even when imposing purely linear genotype to parameter maps and no environmental variation, we observed quite low VA /VG ratios. In particular, systems with positive feedback and cyclic dynamics gave more non-monotone genotype-phenotype maps and much lower VA /VG ratios than those without. The results show that some regulatory architectures consistently maintain a transparent genotype-to-phenotype relationship, whereas other architectures generate more subtle patterns. Our approach can be used to elucidate these relationships across a whole range of biological systems in a systematic fashion.

Radioactive waste incineration system cold demonstration test

Energy Technology Data Exchange (ETDEWEB)

Hozumi, Masahiro; Takaoku, Yoshinobu; Koyama, Shigeru; Nagae, Madoka; Seike, Yasuhiko; Yamanaka, Yasuhiro; Shibata, Kenji; Manabe, Kyoichi

1984-12-01

To demonstrate Waste Incineration System (WIS) which our company has been licensed by Combustion Engineering Inc., USA we installed a demonstration test plant in our Hiratsuka Research Laboratory and started the demonstration test on January 1984. One of the characteristics of this system is to be able to process many kinds of wastes with only one system, and to get high volume reduction factors. In our test plant, we processed paper, cloth, wood, polyethylene sheets as the samples of solid combustible wastes and spent ion exchange resins with incineration and processed condensed liquid wastes with spray drying. We have got good performances and enough Decontamination Factor (DF) data for the dust control equipment. In this paper, we introduce this demonstration test plant and report the test results up to date. (author).

Differential heritability of adult and juvenile antisocial traits.

Science.gov (United States)

Lyons, M J; True, W R; Eisen, S A; Goldberg, J; Meyer, J M; Faraone, S V; Eaves, L J; Tsuang, M T

1995-11-01

Studies of adult antisocial behavior or criminality usually find genetic factors to be more important than the family environment, whereas studies of delinquency find the family environment to be more important. We compared DSM-III-R antisocial personality disorder symptoms before vs after the age of 15 years within a sample of twins, rather than comparing across studies. We administered the Diagnostic Interview Schedule Version III-revised by telephone to 3226 pairs of male twins from the Vietnam Era Twin Registry. Biometrical modeling was applied to each symptom of antisocial personality disorder and summary measures of juvenile and adult symptoms. Five juvenile symptoms were significantly heritable, and five were significantly influenced by the shared environment. Eight adult symptoms were significantly heritable, and one was significantly influenced by the shared environment. The shared environment explained about six times more variance in juvenile anti-social traits than in adult traits. Shared environmental influences on adult antisocial traits overlapped entirely with those on juvenile traits. Additive genetic factors explained about six times more variance in adult vs juvenile traits. The juvenile genetic determinants overlapped completely with genetic influences on adult traits. The unique environment (plus measurement error) explained the largest proportion of variance in both juvenile and adult antisocial traits. Characteristics of the shared or family environment that promote antisocial behavior during childhood and early adolescence also promote later antisocial behavior, but to a much lesser extent. Genetic causal factors are much more prominent for adult than for juvenile antisocial traits.

Demonstration of Eastman Christensen horizontal drilling system -- Integrated Demonstration Site, Savannah River Site

International Nuclear Information System (INIS)

1992-12-01

An innovative horizontal drilling system was used to install two horizontal wells as part of an integrated demonstration project at the Savannah River Site (SRS), Aiken, South Carolina. The SRS is located in south-central South Carolina in the upper Coastal Plain physiographic province. The demonstration site is located near the A/M Area, and is currently known as the Integated Demonstration Site. The Department of Energy's Office of Technology Development initiated an integrated demonstration of innovative technologies for cleanup of volatile organic compounds (VOCS) in soils and groundwater at the SRS in 1989. The overall goal of the program is to demonstrate, at a single location, multiple technologies in the fields of drilling, characterization, monitoring, and remediation. Innovative technologies are compared to one another and to baseline technologies in terms of technical performance and cost effectiveness. Transfer of successfully demonstrated technologies and systems to DOE environmental restoration organizations, to other government agencies, and to industry is a critical part of the program

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...... 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....

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.

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.

Correlation, path analysis and heritability estimation for agronomic traits contribute to yield on soybean

Science.gov (United States)

Sulistyo, A.; Purwantoro; Sari, K. P.

2018-01-01

Selection is a routine activity in plant breeding programs that must be done by plant breeders in obtaining superior plant genotypes. The use of appropriate selection criteria will determine the effectiveness of selection activities. The purpose of this study was to analysis the inheritable agronomic traits that contribute to soybean yield. A total of 91 soybean lines were planted in Muneng Experimental Station, Probolinggo District, East Java Province, Indonesia in 2016. All soybean lines were arranged in randomized complete block design with two replicates. Correlation analysis, path analysis and heritability estimation were performed on days to flowering, days to maturing, plant height, number of branches, number of fertile nodes, number of filled pods, weight of 100 seeds, and yield to determine selection criteria on soybean breeding program. The results showed that the heritability value of almost all agronomic traits observed is high except for the number of fertile nodes with low heritability. The result of correlation analysis shows that days to flowering, plant height and number of fertile nodes have positive correlation with seed yield per plot (0.056, 0.444, and 0.100, respectively). In addition, path analysis showed that plant height and number of fertile nodes have highest positive direct effect on soybean yield. Based on this result, plant height can be selected as one of selection criteria in soybean breeding program to obtain high yielding soybean variety.

High heritability and genetic correlation of intravenous glucose- and tolbutamide-induced insulin secretion among non-diabetic family members of type 2 diabetic patients

DEFF Research Database (Denmark)

Gjesing, Anette Marianne Prior; Hornbak, Malene; Allin, Kristine H.

2014-01-01

∈±∈SE: 0.49∈±∈0.14) and beta cell responsiveness to glucose (h 2∈±∈SE: 0.66∈±∈0.12). Additionally, strong genetic correlations were found between measures of beta cell response after glucose and tolbutamide stimulation, with correlation coefficients ranging from 0.77 to 0.88. Furthermore, we identified......Aims/hypothesis: The aim of this study was to estimate the heritability of quantitative measures of glucose regulation obtained from a tolbutamide-modified frequently sampled IVGTT (t-FSIGT) and to correlate the heritability of the glucose-stimulated beta cell response to the tolbutamide...... after tolbutamide (DIT), insulin sensitivity (SI), glucose effectiveness (SG) and beta cell responsiveness to glucose were calculated. A polygenic variance component model was used to estimate heritability, genetic correlations and associations. Results: We found high heritabilities for acute insulin...

The Heritability of Insomnia Progression during Childhood/Adolescence: Results from a Longitudinal Twin Study

Science.gov (United States)

Barclay, Nicola L.; Gehrman, Philip R.; Gregory, Alice M.; Eaves, Lindon J.; Silberg, Judy L.

2015-01-01

Study Objectives: To determine prevalence and heritability of insomnia during middle/late childhood and adolescence; examine longitudinal associations in insomnia over time; and assess the extent to which genetic and environmental factors on insomnia remain stable, or whether new factors come into play, across this developmental period. Design: Longitudinal twin study. Setting: Academic medical center. Patients or Participants: There were 739 complete monozygotic twin pairs (52%) and 672 complete dizygotic twin pairs (48%) initially enrolled and were followed up at three additional time points (waves). Mode ages at each wave were 8, 10, 14, and 15 y (ages ranged from 8–18 y). Interventions: None. Measurements and Results: Clinical ratings of insomnia symptoms were assessed using the Child and Adolescent Psychiatric Assessment (CAPA) by trained clinicians, and rated according to Diagnostic and Statistical Manual of Mental Disorders, 3rd Edition—Revised criteria for presence of “clinically significant insomnia,” over four sequential waves. Insomnia symptoms were prevalent but significantly decreased across the four waves (ranging from 16.6% to 31.2%). “Clinically significant insomnia” was moderately heritable at all waves (h2 range = 14% to 38%), and the remaining source of variance was the nonshared environment. Multivariate models indicated that genetic influences at wave 1 contributed to insomnia at all subsequent waves, and that new genetic influences came into play at wave 2, which further contributed to stability of symptoms. Nonshared environmental influences were time-specific. Conclusion: Insomnia is prevalent in childhood and adolescence, and is moderately heritable. The progression of insomnia across this developmental time period is influenced by stable as well as new genetic factors that come into play at wave 2 (modal age 10 y). Molecular genetic studies should now identify genes related to insomnia progression during childhood and

Shared genetic variance between the features of the metabolic syndrome: Heritability studies

NARCIS (Netherlands)

Povel, C.M.; Boer, J.M.A.; Feskens, E.J.M.

2011-01-01

Heritability estimates of MetS range from approximately 10%–30%. The genetic variation that is shared among MetS features can be calculated by genetic correlation coefficients. The objective of this paper is to identify MetS feature as well as MetS related features which have much genetic variation

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.

Study of the heritability of some agronomic characters in sulla (Hedysarum spinosissimum subsp. Capitatum (Desf.) Asch. And Gr)

International Nuclear Information System (INIS)

Hemissi, Imen

2007-01-01

In order to safeguard and to improve the fodder species Hedysarum spinosissimum L subsp.capitatum (desf.) asch. et Gr., we estimated the heritability of certain morphological natures. The model used requires, as a preliminary, the analysis of the variance for the estimate of its components. Families of plants half-sibs, resulting from natural pollination, were analysed. The test of ANOVA shows that the familiy effect is significant for five agronomic characters: l ength of the principal axis ( LO); N umber of the secondary branches ( NTP); (length of the longest secondary branch ( LPL); Date of flowering ( DF); N umber of inflorescences ( NIF). To support the idea of use of these variables in a breeding program, we estimated their heritability. The analysis of the significance of this genetic parameter shows that ultimately three characters only are significantly heritable. They are morphological markers NTP, LPL and which can be retained for any project of family's selection's at H. capitatum.

Heritability of the Structures and 13C Fractionation in Tomato Leaf Wax Alkanes: A Genetic Model System to Inform Paleoenvironmental Reconstructions

Directory of Open Access Journals (Sweden)

Amanda L. D. Bender

2017-06-01

Full Text Available Leaf wax n-alkanes are broadly used to reconstruct paleoenvironmental information. However, the utility of n-alkanes as a paleoenvironmental proxy may be modulated by the extent to which biological as well as environmental factors influence the structural and isotopic variability of leaf waxes. In paleoclimate applications, there is usually an implicit assumption that most variation of leaf wax traits through a time series can be attributed to environmental change and that biological sources of variability within plant communities are small. For example, changes in hydrology affect the δ2H of waxes via rainwater and the δ13C of leaf waxes by changing plant communities. We measured the degree of genetic control over δ13C variation in leaf waxes within closely related species with an experimental greenhouse growth study. We measured the proportion of variability in structural and isotopic leaf wax traits that is attributable to genetic variation using a set of 76 introgression lines (ILs between two interfertile Solanum (tomato species: S. lycopersicum cv M82 (hereafter cv M82 and S. pennellii. Leaves of S. pennellii, a wild desert tomato relative, produced significantly more iso-alkanes than cv M82, a domesticated tomato cultivar adapted to water-replete conditions. We report a methylation index to summarize the ratio of branched (iso- and anteiso- to total alkanes. Between Solanum pennellii and cv M82, the iso-alkanes were found to be enriched in 13C by 1.2–1.4‰ over n-alkanes. The broad-sense heritability values (H2 of leaf wax traits describe the degree to which genetic variation contributes to variation of these traits. Variation of individual carbon isotopic compositions of alkanes were of low heritability (H2 = 0.13–0.19, suggesting that most variation in δ13C of leaf waxes in this study can be attributed to environmental variance. This supports the interpretation that variation in the δ13C of wax compounds recorded in sediments

Heritability of the structures and 13C fractionation in tomato leaf wax alkanes: a genetic model system to inform paleoenvironmental reconstructions

Science.gov (United States)

Bender, Amanda L. D.; Chitwood, Daniel H.; Bradley, Alexander S.

2017-06-01

Leaf wax n-alkanes are broadly used to reconstruct paleoenvironmental information. However, the utility of n-alkanes as a paleoenvironmental proxy may be modulated by the extent to which biological as well as environmental factors influence the structural and isotopic variability of leaf waxes. In paleoclimate applications, there is usually an implicit assumption that most variation of leaf wax traits through a time series can be attributed to environmental change and that biological sources of variability within plant communities are small. For example, changes in hydrology affect the δ2H of waxes via rainwater and the δ13C of leaf waxes by changing plant communities. We measured the degree of genetic control over δ13C variation in leaf waxes within closely related species with an experimental greenhouse growth study. We measured the proportion of variability in structural and isotopic leaf wax traits that is attributable to genetic variation using a set of 76 introgression lines (ILs) between two interfertile Solanum (tomato) species: S. lycopersicum cv M82 (hereafter cv M82) and S. pennellii. Leaves of S. pennellii, a wild desert tomato relative, produced significantly more iso-alkanes than cv M82, a domesticated tomato cultivar adapted to water-replete conditions. We report a methylation index to summarize the ratio of branched (iso- and anteiso-) to total alkanes. Between S. pennellii and cv M82, the iso-alkanes were found to be enriched in 13C by 1.2-1.4‰ over n-alkanes. The broad-sense heritability values (H2) of leaf wax traits describe the degree to which genetic variation contributes to variation of these traits. Variation of individual carbon isotopic compositions of alkanes were of low heritability (H2 = 0.13-0.19), suggesting that most variation in δ13C of leaf waxes in this study can be attributed to environmental variance. This supports the interpretation that variation in the δ13C of wax compounds recorded in sediments reflects

Heritability of Addison's disease and prevalence of associated autoimmunity in a cohort of 112,100 Swedish twins.

Science.gov (United States)

Skov, Jakob; Höijer, Jonas; Magnusson, Patrik K E; Ludvigsson, Jonas F; Kämpe, Olle; Bensing, Sophie

2017-12-01

The pathophysiology behind autoimmune Addison's disease (AAD) is poorly understood, and the relative influence of genetic and environmental factors remains unclear. In this study, we examined the heritability of AAD and explored disease-associated autoimmune comorbidity among Swedish twins. A population-based longitudinal cohort of 112,100 Swedish twins was used to calculate the heritability of AAD, and to explore co-occurrence of 10 organ-specific autoimmune disorders in twin pairs with AAD. Diagnoses were collected 1964-2012 through linkage to the Swedish National Patient Register. The Swedish Prescribed Drug Register was used for additional diagnostic precision. When available, biobank serum samples were used to ascertain the AAD diagnosis through identification of 21-hydroxylase autoantibodies. We identified 29 twins with AAD. Five out of nine (5/9) monozygotic pairs and zero out of fifteen (0/15) dizygotic pairs were concordant for AAD. The probandwise concordance for monozygotic twins was 0.71 (95% CI 0.40-0.90) and the heritability 0.97 (95% CI 0.88-99). Autoimmune disease patterns of monozygotic twin pairs affected by AAD displayed a higher degree of similarity than those of dizygotic twins, with an incidence rate ratio of 15 (95% CI 1.8-116) on the number of shared autoimmune diagnoses within pairs. The heritability of AAD appears to be very high, emphasizing the need for further research on the genetic etiology of the disease. Monozygotic twin concordance for multiple autoimmune manifestations suggests strong genetic influence on disease specificity in organ-specific autoimmunity.

System design specification Brayton Isotope Power System (BIPS) Flight System (FS), and Ground Demonstration System (GDS)

International Nuclear Information System (INIS)

1976-01-01

The system design specification for ground demonstration, development, and flight qualification of a Brayton Isotope Power System (BIPS) is presented. The requirements for both a BIPS conceptual Flight System (FS) and a Ground Demonstration System (GDS) are defined

Family Aggregation and Heritability of ESRD in Taiwan: A Population-Based Study.

Science.gov (United States)

Wu, Hsin Hsu; Kuo, Chang Fu; Li, I Jung; Weng, Cheng Hao; Lee, Cheng Chia; Tu, Kun Hua; Liu, Shou Hsuan; Chen, Yung Chang; Yang, Chih Wei; Luo, Shue Fen; See, Lai Chu; Yu, Kuang Hui; Huang, Lu Hsiang; Zhang, Weiya; Doherty, Michael; Tian, Ya Chung

2017-11-01

Aggregation of end-stage renal disease (ESRD) has been observed in families of European origin, as well as those of African origin. However, it is not well documented if this disease aggregates in Asian families. Furthermore, the contribution of genetic factors and shared environmental factors to family aggregation remains unclear. Population-based cross-sectional cohort study. All 23,422,955 individuals registered in the Taiwan National Health Insurance Research Database in 2013. Among these, 47.45%, 57.45%, 47.29%, and 1.51% had a known parent, child, sibling, or twin, respectively. We identified 87,849 patients who had a diagnosis of ESRD. Family history of ESRD. ESRD and heritability defined as the proportion of phenotypic variance attributable to genetic factors. Having an affected first-degree relative with ESRD was associated with an adjusted relative risk of 2.46 (95% CI, 2.32-2.62). Relative risks were 96.38 (95% CI, 48.3-192.34) for twins of patients with ESRD, 2.15 (95% CI, 2.02-2.29) for parents, 2.78 (95% CI, 2.53-3.05) for offspring, 4.96 (95% CI, 4.19-5.88) for siblings, and 1.66 (95% CI, 1.54-1.78) for spouses without genetic similarities. Heritability in this study was 31.1% to 11.4% for shared environmental factors and 57.5% for nonshared environmental factors. This was a registry database study and we did not have detailed information about clinical findings or the definite causes of ESRD. This whole population-based family study in Asia confirmed, in a Taiwanese population, that a family history of ESRD is a strong risk factor for this disease. Moderate heritability was noted and environmental factors were related to disease. Family history of ESRD is an important piece of clinical information. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

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...

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

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

(questionnaire), physical activity (days walked in prior 2 weeks), and slowness (gait speed); each component was scored 0, 1, or 2 using approximate tertiles, and summed (range 0 (vigorous) to 10 (frail)). Heritability was determined using a variance component-based family analysis using a polygenic model...

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... ensure follow-up for those affected. Each State has a law that either requires or allows newborn... place to evaluate the extent, timing and understanding of parental education with an eye towards...

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.

Hamilton's inclusive fitness maintains heritable altruism polymorphism through rb = c.

Science.gov (United States)

Wang, Changcao; Lu, Xin

2018-02-20

How can altruism evolve or be maintained in a selfish world? Hamilton's rule shows that the former process will occur when rb > c -the benefits to the recipients of an altruistic act b , weighted by the relatedness between the social partners r , exceed the costs to the altruists c -drives altruistic genotypes spreading against nonaltruistic ones. From this rule, we infer that altruistic genotypes will persist in a population by forming a stable heritable polymorphism with nonaltruistic genotypes if rb = c makes inclusive fitness of the two morphs equal. We test this prediction using the data of 12 years of study on a cooperatively breeding bird, the Tibetan ground tit Pseudopodoces humilis , where helping is performed by males only and kin-directed. Individual variation in ever acting as a helper was heritable ( h 2 = 0.47), and the resultant altruism polymorphism remained stable as indicated by low-level annual fluctuation of the percentage of helpers among all adult males (24-28%). Helpers' indirect fitness gains from increased lifetime reproductive success of related breeders statistically fully compensated for their lifetime direct fitness losses, suggesting that rb = c holds. While our work provides a fundamental support for Hamilton's idea, it highlights the equivalent inclusive fitness returns to altruists and nonaltruists mediated by rb = c as a theoretically and realistically important mechanism to maintain social polymorphism.

Quantitative genetic tools for insecticide resistance risk assessment: estimating the heritability of resistance

Science.gov (United States)

Michael J. Firko; Jane Leslie Hayes

1990-01-01

Quantitative genetic studies of resistance can provide estimates of genetic parameters not available with other types of genetic analyses. Three methods are discussed for estimating the amount of additive genetic variation in resistance to individual insecticides and subsequent estimation of heritability (h2) of resistance. Sibling analysis and...

Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings.

Directory of Open Access Journals (Sweden)

2006-03-01

Full Text Available The study of continuously varying, quantitative traits is important in evolutionary biology, agriculture, and medicine. Variation in such traits is attributable to many, possibly interacting, genes whose expression may be sensitive to the environment, which makes their dissection into underlying causative factors difficult. An important population parameter for quantitative traits is heritability, the proportion of total variance that is due to genetic factors. Response to artificial and natural selection and the degree of resemblance between relatives are all a function of this parameter. Following the classic paper by R. A. Fisher in 1918, the estimation of additive and dominance genetic variance and heritability in populations is based upon the expected proportion of genes shared between different types of relatives, and explicit, often controversial and untestable models of genetic and non-genetic causes of family resemblance. With genome-wide coverage of genetic markers it is now possible to estimate such parameters solely within families using the actual degree of identity-by-descent sharing between relatives. Using genome scans on 4,401 quasi-independent sib pairs of which 3,375 pairs had phenotypes, we estimated the heritability of height from empirical genome-wide identity-by-descent sharing, which varied from 0.374 to 0.617 (mean 0.498, standard deviation 0.036. The variance in identity-by-descent sharing per chromosome and per genome was consistent with theory. The maximum likelihood estimate of the heritability for height was 0.80 with no evidence for non-genetic causes of sib resemblance, consistent with results from independent twin and family studies but using an entirely separate source of information. Our application shows that it is feasible to estimate genetic variance solely from within-family segregation and provides an independent validation of previously untestable assumptions. Given sufficient data, our new paradigm will

Does parental divorce moderate the heritability of body dissatisfaction? An extension of previous gene-environment interaction effects.

Science.gov (United States)

O'Connor, Shannon M; Klump, Kelly L; VanHuysse, Jessica L; McGue, Matt; Iacono, William

2016-02-01

Previous research suggests that parental divorce moderates genetic influences on body dissatisfaction. Specifically, the heritability of body dissatisfaction is higher in children of divorced versus intact families, suggesting possible gene-environment interaction effects. However, prior research is limited to a single, self-reported measure of body dissatisfaction. The primary aim of this study was to examine whether these findings extend to a different dimension of body dissatisfaction: body image perceptions. Participants were 1,534 female twins from the Minnesota Twin Family Study, aged 16-20 years. The Body Rating Scale (BRS) was used to assess body image perceptions. Although BRS scores were heritable in twins from divorced and intact families, the heritability estimates in the divorced group were not significantly greater than estimates in the intact group. However, there were differences in nonshared environmental effects, where the magnitude of these environmental influences was larger in the divorced as compared with the intact families. Different dimensions of body dissatisfaction (i.e., negative self-evaluation versus body image perceptions) may interact with environmental risk, such as parental divorce, in discrete ways. Future research should examine this possibility and explore differential gene-environment interactions using diverse measures. © 2015 Wiley Periodicals, Inc.

Heritability of life span in the Old Order Amish.

Science.gov (United States)

Mitchell, B D; Hsueh, W C; King, T M; Pollin, T I; Sorkin, J; Agarwala, R; Schäffer, A A; Shuldiner, A R

2001-09-01

Although a familial contribution to human longevity is recognized, the nature of this contribution is largely unknown. We have examined the familial contribution to life span in the Old Order Amish (OOA) population of Lancaster County, Pennsylvania. Analyses were conducted on 1,655 individuals, representing all those born prior to 1890 and appearing in the most widely available genealogy, surviving until at least age 30 years, and with known date of death. Mean age at death (+/-SD) in this population was 70.7 +/- 15.6 years, and this did not change appreciably over time. Parental and offspring ages at death were significantly correlated, as were ages of death among siblings. Offspring longevity was correlated with longevity of both parents, and in more or less additive fashion. For example, mean offspring age at death was 69.4 +/- 15.3 years in individuals for whom both parents died before the age of 75 years (n = 280) and increased to 73.5 +/- 16.0 years in individuals for whom neither parent died before the age of 75 years (n = 311). These differences were highly significant (P = 0.006). We estimated heritability of life span to be 25% +/- 5%, suggesting that the additive effects of genes account for one quarter of the total variability in life span in the OOA. We conclude that longevity is moderately heritable in the OOA, that the genetic effects are additive, and that genetic influences on longevity are likely to be expressed across a broad range of ages. Published 2001 Wiley-Liss, Inc.

Kilowatt Isotope Power System: component report for the Ground Demonstration System Accumulator

International Nuclear Information System (INIS)

Brainard, E.L.

1978-01-01

The Model Number ORC1A3A01 System Accumulator for the Kilowatt Isotope Power System was expulsion tested and demonstrated to be in compliance with the requirements of Sundstrand Explusion Test Procedure, TP 400. Test requirements of TP 400 were extracted from the Kilowatt Isotope Power System, Ground Demonstration System Test Plan

Familial Risk and Heritability of Colorectal Cancer in the Nordic Twin Study of Cancer

DEFF Research Database (Denmark)

Graff, Rebecca E; Möller, Sören; Passarelli, Michael N

2017-01-01

included 39,990 monozygotic and 61,443 same-sex dizygotic twins from the Nordic Twin Study of Cancer. We compared each cancer's risk in twins of affected co-twins relative to the cohort risk (familial risk ratio; FRR). We then estimated the proportion of variation in risk that could be attributed......BACKGROUND & AIMS: We analyzed data from twins to determine how much the familial risk of colorectal cancer can be attributed to genetic factors vs environment. We also examined whether heritability is distinct for colon vs rectal cancer, given evidence of distinct etiologies. METHODS: Our data set...... to genetic factors (heritability). RESULTS: From earliest registration in 1943 through 2010, 1861 individuals were diagnosed with colon cancer and 1268 with rectal cancer. Monozygotic twins of affected co-twins had an FRR for colorectal cancer of 3.1 (95% CI, 2.4-3.8) relative to the cohort risk. Dizygotic...

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...

Heritability and variance components of some morphological and agronomic in alfalfa

International Nuclear Information System (INIS)

Ates, E.; Tekeli, S.

2005-01-01

Four alfalfa cultivars were investigated using randomized complete-block design with three replications. Variance components, variance coefficients and heritability values of some morphological characters, herbage yield, dry matter yield and seed yield were determined. Maximum main stem height (78.69 cm), main stem diameter (4.85 mm), leaflet width (0.93 cm), seeds/pod (6.57), herbage yield (75.64 t ha/sub -1/), dry matter yield (20.06 t ha/sub -1/) and seed yield (0.49 t ha/sub -1/) were obtained from cv. Marina. Leaflet length varied from 1.65 to 2.08 cm. The raceme length measured 3.15 to 4.38 cm in alfalfa cultivars. The highest 1000-seeds weight values (2.42-2.49 g) were found from Marina and Sitel cultivars. Heritability values of various traits were: 91.0% for main stem height, 97.6% for main stem diameter, 81.8% for leaflet length, 88.8% for leaflet width, 90.4% for leaf/stem ratio, 28.3% for racemes/main stem, 99.0% for raceme length, 99.2% for seeds/pod, 88.0% for 1000-seeds weight, 97.2% for herbage yield, 99.6% for dry matter yield and 95.4% for seed yield. (author)

Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.

Science.gov (United States)

Leclerc, Julie; Flament, Cathy; Lovecchio, Tonio; Delattre, Lucie; Ait Yahya, Emilie; Baert-Desurmont, Stéphanie; Burnichon, Nelly; Bronner, Myriam; Cabaret, Odile; Lejeune, Sophie; Guimbaud, Rosine; Morin, Gilles; Mauillon, Jacques; Jonveaux, Philippe; Laurent-Puig, Pierre; Frébourg, Thierry; Porchet, Nicole; Buisine, Marie-Pierre

2018-04-12

PurposeConstitutional epimutations are an alternative to genetic mutations in the etiology of genetic diseases. Some of these epimutations, termed secondary, correspond to the epigenetic effects of cis-acting genetic defects transmitted to the offspring following a Mendelian inheritance pattern. In Lynch syndrome, a few families with such apparently heritable MLH1 epimutations have been reported so far.MethodsWe designed a long-range polymerase chain reaction next-generation sequencing strategy to screen MLH1 entire gene and applied it to 4 French families with heritable epimutations and 10 additional patients with no proven transmission of their epimutations.ResultsThis strategy successfully detected the insertion of an Alu element in MLH1 coding sequence in one family. Two previously unreported MLH1 variants were also identified in other epimutation carriers: a nucleotide substitution within intron 1 and a single-nucleotide deletion in the 5'-UTR. Detection of a partial MLH1 duplication in another family required multiplex ligation-dependent probe amplification technology. We demonstrated the segregation of these variants with MLH1 methylation and studied the functional consequences of these defects on transcription.ConclusionThis is the largest cohort of patients with MLH1 secondary epimutations associated with a broad spectrum of genetic defects. This study provides further insight into the complexity of molecular mechanisms leading to secondary epimutations.GENETICS in MEDICINE advance online publication, 12 April 2018; doi:10.1038/gim.2018.47.

DESIGN OF SMALL AUTOMATION WORK CELL SYSTEM DEMONSTRATIONS

International Nuclear Information System (INIS)

TURNER, C.; PEHL, J.

2000-01-01

The introduction of automation systems into many of the facilities dealing with the production, use and disposition of nuclear materials has been an ongoing objective. Many previous attempts have been made, using a variety of monolithic and, in some cases, modular technologies. Many of these attempts were less than successful, owing to the difficulty of the problem, the lack of maturity of the technology, and over optimism about the capabilities of a particular system. Consequently, it is not surprising that suggestions that automation can reduce worker Occupational Radiation Exposure (ORE) levels are often met with skepticism and caution. The development of effective demonstrations of these technologies is of vital importance if automation is to become an acceptable option for nuclear material processing environments. The University of Texas Robotics Research Group (UTRRG) has been pursuing the development of technologies to support modular small automation systems (each of less than 5 degrees-of-freedom) and the design of those systems for more than two decades. Properly designed and implemented, these technologies have a potential to reduce the worker ORE associated with work in nuclear materials processing facilities. Successful development of systems for these applications requires the development of technologies that meet the requirements of the applications. These application requirements form a general set of rules that applicable technologies and approaches need to adhere to, but in and of themselves are generally insufficient for the design of a specific automation system. For the design of an appropriate system, the associated task specifications and relationships need to be defined. These task specifications also provide a means by which appropriate technology demonstrations can be defined. Based on the requirements and specifications of the operations of the Advanced Recovery and Integrated Extraction System (ARIES) pilot line at Los Alamos National

A population genetic analysis of the potential for a crude oil spill to induce heritable mutations and impact natural populations

Energy Technology Data Exchange (ETDEWEB)

Cronin, M.A. [LGL Alaska Research Associates Inc., Anchorage, AK (United States); Bickham, J.W. [Texas A and M University, College Station, TX (United States). Dept. of Wildlife and Fisheries Sciences; LGL Ecological Genetics Inc., Bryan, TX (United States)

1998-07-01

The primary environmental impact following an oil spill typically is acute toxicity to fish and wildlife. However, multigenerational effects through toxicant-induced heritable mutations might also occur. Some polycyclic aromatic hydrocarbon (PAH) components of crude oil are potentially mutagenic, although specific components and doses that induce mutations are poorly known. We applied population genetics concepts to assess the extent of mortality and the persistence of deleterious heritable mutations resulting from exposure to potential mutagens, such as crude oil. If lethal mutations are induced, the population will experience some mortality, but the mutations are quickly removed or reduced to low frequency by natural selection. This occurs within one or a few generations when mutations are dominant or partially recessive. Totally recessive alleles persist in low frequency for many generations, but result in relatively little impact on the population, depending on the number of mutated loci. We also applied population genetics concepts to assess the potential for heritable mutations induced by the Exxon Valdez oil spill in Prince William Sound, Alaska, to affect pink salmon populations. We stress that breeding units (e.g., streams with distinct spawning populations of salmon) must be considered individually to assess heritable genetic effects. For several streams impacted by the oil spill, there is inconsistency between observed egg mortality and that expected if lethal heritable mutations had been induced by exposure to crude oil. Observed mortality was either higher or lower than expected depending on the spawning population, year, and cohort considered. Any potential subtle effect of lethal mutations induced by the Exxon Valdez oil spill is overridden by natural environmental variation among spawning areas. We discuss the need to focus on population-level effects in toxicological assessments because fish and wildlife management focuses on populations, not

Demonstration Advanced Avionics System (DAAS) function description

Science.gov (United States)

Bailey, A. J.; Bailey, D. G.; Gaabo, R. J.; Lahn, T. G.; Larson, J. C.; Peterson, E. M.; Schuck, J. W.; Rodgers, D. L.; Wroblewski, K. A.

1982-01-01

The Demonstration Advanced Avionics System, DAAS, is an integrated avionics system utilizing microprocessor technologies, data busing, and shared displays for demonstrating the potential of these technologies in improving the safety and utility of general aviation operations in the late 1980's and beyond. Major hardware elements of the DAAS include a functionally distributed microcomputer complex, an integrated data control center, an electronic horizontal situation indicator, and a radio adaptor unit. All processing and display resources are interconnected by an IEEE-488 bus in order to enhance the overall system effectiveness, reliability, modularity and maintainability. A detail description of the DAAS architecture, the DAAS hardware, and the DAAS functions is presented. The system is designed for installation and flight test in a NASA Cessna 402-B aircraft.

Dataset on the mean, standard deviation, broad-sense heritability and stability of wheat quality bred in three different ways and grown under organic and low-input conventional systems.

Science.gov (United States)

Rakszegi, Marianna; Löschenberger, Franziska; Hiltbrunner, Jürg; Vida, Gyula; Mikó, Péter

2016-06-01

An assessment was previously made of the effects of organic and low-input field management systems on the physical, grain compositional and processing quality of wheat and on the performance of varieties developed using different breeding methods ("Comparison of quality parameters of wheat varieties with different breeding origin under organic and low-input conventional conditions" [1]). Here, accompanying data are provided on the performance and stability analysis of the genotypes using the coefficient of variation and the 'ranking' and 'which-won-where' plots of GGE biplot analysis for the most important quality traits. Broad-sense heritability was also evaluated and is given for the most important physical and quality properties of the seed in organic and low-input management systems, while mean values and standard deviation of the studied properties are presented separately for organic and low-input fields.

Exploration Medical System Demonstration Project

Science.gov (United States)

Chin, D. A.; McGrath, T. L.; Reyna, B.; Watkins, S. D.

2011-01-01

A near-Earth Asteroid (NEA) mission will present significant new challenges including hazards to crew health created by exploring a beyond low earth orbit destination, traversing the terrain of asteroid surfaces, and the effects of variable gravity environments. Limited communications with ground-based personnel for diagnosis and consultation of medical events require increased crew autonomy when diagnosing conditions, creating treatment plans, and executing procedures. Scope: The Exploration Medical System Demonstration (EMSD) project will be a test bed on the International Space Station (ISS) to show an end-to-end medical system assisting the Crew Medical Officers (CMO) in optimizing medical care delivery and medical data management during a mission. NEA medical care challenges include resource and resupply constraints limiting the extent to which medical conditions can be treated, inability to evacuate to Earth during many mission phases, and rendering of medical care by a non-clinician. The system demonstrates the integration of medical technologies and medical informatics tools for managing evidence and decision making. Project Objectives: The objectives of the EMSD project are to: a) Reduce and possibly eliminate the time required for a crewmember and ground personnel to manage medical data from one application to another. b) Demonstrate crewmember's ability to access medical data/information via a software solution to assist/aid in the treatment of a medical condition. c) Develop a common data management architecture that can be ubiquitously used to automate repetitive data collection, management, and communications tasks for all crew health and life sciences activities. d) Develop a common data management architecture that allows for scalability, extensibility, and interoperability of data sources and data users. e) Lower total cost of ownership for development and sustainment of peripheral hardware and software that use EMSD for data management f) Provide

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

Heritability of resting heart rate and association with mortality in middle-aged and elderly twins

DEFF Research Database (Denmark)

Jensen, Magnus T; Wod, Mette; Galatius, Søren

2018-01-01

, heritability estimates were 0.23 (95% CI 0.15 to 0.30); 0.27 (0.15 to 0.38) for males and 0.17 (0.06 to 0.28) for females. In multivariable models adjusting for age, gender, body mass index, diabetes, hypertension, pulmonary function, smoking, physical activity and zygosity, RHR was significantly associated......OBJECTIVE: Resting heart rate (RHR) possibly has a hereditary component and is associated with longevity. We used the classical biometric twin study design to investigate the heritability of RHR in a population of middle-aged and elderly twins and, furthermore, studied the association between RHR...... in RHR. CONCLUSIONS: RHR is a trait with a genetic influence in middle-aged and elderly twins free of cardiovascular disease. RHR is independently associated with longevity even when familial factors are controlled for in a twin design....

Heritability and complex segregation analysis of deafness in Jack Russell Terriers

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Strain George M

2007-11-01

Full Text Available Abstract Background The association between patterns of pigmentation and deafness in the dog has a long-documented history, with reports dating back over one hundred years. Long suspected of having a genetic basis, the search for loci with a pronounced influence in the expression of hearing loss in the dog has yet to be successful. No studies in the dog to date have found a possible influence of a specific colour locus associated with deafness. The present study is intended to evaluate the heritability of deafness in the Jack Russell Terrier (JRT, characterize the mode of inheritance, and evaluate the existence of a sex, coat colour, or coat texture influence on the expression of sensorineural deafness. Results The estimation of heritability of deafness in the JRT was 0.22 when deafness was considered a binary (normal/deaf trait and 0.31 when deafness was considered a three-category (normal/unilateral/bilateral deafness. The influence of coat colour in the incidence of JRT deafness was statistically significant, indicating that dogs with more white are more likely to be deaf. The influence of sex or coat texture was not statistically significant in the incidence of JRT deafness. Complex segregation analysis revealed a model of a single locus with a large effect on the binary measure of hearing loss is not supported. Conclusion This is the first attempt, to our knowledge, to characterize a genetic component responsible for deafness in the JRT. The heritability of deafness in the JRT was found to be 0.22 and 0.31 considering deafness to be a two-category or three-category trait, respectively. There appears to be an influence of coat colour on the expression of deafness. In an attempt to characterize the mode of inheritance of deafness in the JRT, a model of a single locus with a large effect on hearing loss is not supported with this data. Further study is needed to determine if a single locus may be influencing deafness in the JRT. While the

Prospects for DNA methods to measure human heritable mutation rates

International Nuclear Information System (INIS)

Mendelsohn, M.L.

1985-01-01

A workshop cosponsored by ICPEMC and the US Department of Energy was held in Alta, Utah, December 9-13, 1984 to examine the extent to which DNA-oriented methods might provide new approaches to the important but intractable problem of measuring mutation rates in control and exposed human populations. The workshop identified and analyzed six DNA methods for detection of human heritable mutation, including several created at the meeting, and concluded that none of the methods combine sufficient feasibility and efficiency to be recommended for general application. 8 refs

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.

A heritable component in sex ratio and caste determination in a Cardiocondyla ant

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Heinze Jürgen

2009-10-01

Full Text Available Abstract Studies on sex ratios in social insects provide among the most compelling evidence for the importance of kin selection in social evolution. The elegant synthesis of Fisher's sex ratio principle and Hamilton's inclusive fitness theory predicts that colony-level sex ratios vary with the colonies' social and genetic structures. Numerous empirical studies in ants, bees, and wasps have corroborated these predictions. However, the evolutionary optimization of sex ratios requires genetic variation, but one fundamental determinant of sex ratios - the propensity of female larvae to develop into young queens or workers ("queen bias" - is thought to be largely controlled by the environment. Evidence for a genetic influence on sex ratio and queen bias is as yet restricted to a few taxa, in particular hybrids. Because of the very short lifetime of their queens, ants of the genus Cardiocondyla are ideal model systems for the study of complete lifetime reproductive success, queen bias, and sex ratios. We found that lifetime sex ratios of the ant Cardiocondyla kagutsuchi have a heritable component. In experimental single-queen colonies, 22 queens from a genetic lineage with a highly female-biased sex ratio produced significantly more female-biased offspring sex ratios than 16 queens from a lineage with a more male-biased sex ratio (median 91.5% vs. 58.5% female sexuals. Sex ratio variation resulted from different likelihood of female larvae developing into sexuals (median 50% vs. 22.6% female sexuals even when uniformly nursed by workers from another colony. Consistent differences in lifetime sex ratios and queen bias among queens of C. kagutsuchi suggest that heritable, genetic or maternal effects strongly affect caste determination. Such variation might provide the basis for adaptive evolution of queen and worker strategies, though it momentarily constrains the power of workers and queens to optimize caste ratios.

A heritable component in sex ratio and caste determination in a Cardiocondyla ant.

Science.gov (United States)

Frohschammer, Sabine; Heinze, Jürgen

2009-10-28

Studies on sex ratios in social insects provide among the most compelling evidence for the importance of kin selection in social evolution. The elegant synthesis of Fisher's sex ratio principle and Hamilton's inclusive fitness theory predicts that colony-level sex ratios vary with the colonies' social and genetic structures. Numerous empirical studies in ants, bees, and wasps have corroborated these predictions. However, the evolutionary optimization of sex ratios requires genetic variation, but one fundamental determinant of sex ratios - the propensity of female larvae to develop into young queens or workers ("queen bias") - is thought to be largely controlled by the environment. Evidence for a genetic influence on sex ratio and queen bias is as yet restricted to a few taxa, in particular hybrids.Because of the very short lifetime of their queens, ants of the genus Cardiocondyla are ideal model systems for the study of complete lifetime reproductive success, queen bias, and sex ratios. We found that lifetime sex ratios of the ant Cardiocondyla kagutsuchi have a heritable component. In experimental single-queen colonies, 22 queens from a genetic lineage with a highly female-biased sex ratio produced significantly more female-biased offspring sex ratios than 16 queens from a lineage with a more male-biased sex ratio (median 91.5% vs. 58.5% female sexuals). Sex ratio variation resulted from different likelihood of female larvae developing into sexuals (median 50% vs. 22.6% female sexuals) even when uniformly nursed by workers from another colony.Consistent differences in lifetime sex ratios and queen bias among queens of C. kagutsuchi suggest that heritable, genetic or maternal effects strongly affect caste determination. Such variation might provide the basis for adaptive evolution of queen and worker strategies, though it momentarily constrains the power of workers and queens to optimize caste ratios.

Hallux Valgus and Lesser Toe Deformities are Highly Heritable in Adult Men and Women: the Framingham Foot Study

Science.gov (United States)

Hannan, Marian T.; Menz, Hylton B.; Jordan, Joanne M.; Cupples, L. Adrienne; Cheng, Chia-Ho; Hsu, Yi-Hsiang

2013-01-01

Objective To estimate heritability of three common disorders affecting the forefoot: hallux valgus, lesser toe deformities and plantar forefoot soft tissue atrophy in adult Caucasian men and women. Methods Between 2002-2008, a trained examiner used a validated foot exam to document presence of hallux valgus, lesser toe deformities and plantar soft tissue atrophy in 2,446 adults from the Framingham Foot Study. Among these, 1,370 participants with available pedigree structure were included. Heritability (h2) was estimated using pedigree structures by Sequential Oligogenic Linkage Analysis Routines (SOLAR) package. Results were adjusted for age, sex and BMI. Results Mean age of participants was 66 years (range 39 to 99 years) and 57% were female. Prevalence of hallux valgus, lesser toe deformities and plantar soft tissue atrophy was 31%, 29.6% and 28.4%, respectively. Significant h2 was found for hallux valgus (0.29 ~ 0.89, depending on age and sex) and lesser toe deformity (0.49 ~ 0.90 depending on age and sex). The h2 for lesser toe deformity in men and women aged 70+ years was 0.65 (p= 9×10−7). Significant h2 was found for plantar soft tissue atrophy in men and women aged 70+ years (h2 = 0.37; p=3.8×10−3). Conclusion To our knowledge, these are the first findings of heritability of foot disorders in humans, and they confirm the widely-held view that hallux valgus and lesser toe deformities are highly heritable in European-descent Caucasian men and women, underscoring the importance of future work to identify genetic determinants of the underlying genetic susceptibility to these common foot disorders. PMID:23696165

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.

The Management and Demonstration System at Murray State University.

Science.gov (United States)

Schroeder, Gary G.

The management system in use at the Murray State University Teacher Corps Project is described. The system uses management by objectives and the demonstration approach, and encourages managers to focus on the development and demonstration of ideas, processes, and structures. The system's operating concepts of time management and human resources…

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

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 18,680....... The role of genetic factors is consistently high across age Impact: Findings impact the search for genetic and epigenetic markers and frame prevention efforts....

X-Band CubeSat Communication System Demonstration

Science.gov (United States)

Altunc, Serhat; Kegege, Obadiah; Bundick, Steve; Shaw, Harry; Schaire, Scott; Bussey, George; Crum, Gary; Burke, Jacob C.; Palo, Scott; O'Conor, Darren

2015-01-01

Today's CubeSats mostly operate their communications at UHF- and S-band frequencies. UHF band is presently crowded, thus downlink communications are at lower data rates due to bandwidth limitations and are unreliable due to interference. This research presents an end-to-end robust, innovative, compact, efficient and low cost S-band uplink and X-band downlink CubeSat communication system demonstration between a balloon and a Near Earth Network (NEN) ground system. Since communication systems serve as umbilical cords for space missions, demonstration of this X-band communication system is critical for successfully supporting current and future CubeSat communication needs. This research has three main objectives. The first objective is to design, simulate, and test a CubeSat S- and X-band communication system. Satellite Tool Kit (STK) dynamic link budget calculations and HFSS Simulations and modeling results have been used to trade the merit of various designs for small satellite applications. S- and X-band antennas have been tested in the compact antenna test range at Goddard Space Flight Center (GSFC) to gather radiation pattern data. The second objective is simulate and test a CubeSat compatible X-band communication system at 12.5Mbps including S-band antennas, X-band antennas, Laboratory for Atmospheric and Space Physics (LASP) /GSFC transmitter and an S-band receiver from TRL-5 to TRL-8 by the end of this effort. Different X-band communication system components (antennas, diplexers, etc.) from GSFC, other NASA centers, universities, and private companies have been investigated and traded, and a complete component list for the communication system baseline has been developed by performing analytical and numerical analysis. This objective also includes running simulations and performing trades between different X-band antenna systems to optimize communication system performance. The final objective is to perform an end-to-end X-band CubeSat communication system

Genetic variability and heritability in cultivated okra [Abel moschus esculentus (L.) Moench

Energy Technology Data Exchange (ETDEWEB)

Nwangburuka, C. C.; Denton, O. A.; Khinde, O. B.; Ojo, D. K.; Popoola, A. R.

2012-11-01

Twenty-nine okra accessions from different agro-ecological regions in Nigeria were grown during the rainy and dry seasons, between 2006 and 2007 at Abeokuta (derived savanah) and Ilishan (rainforest) and assessed to determine their genetic variability, heritability and genetic advance from eight yield related characters. The experiment was laid out in a Randomized Complete Block Design with five replications. There was high genotypic coefficient of variability, % broad-sense heritability and genetic advance in traits such as plant height (26.2, 90.7, 51.5), fresh pod length (23.9, 98.5, 48.8), fresh pod width (23.9, 98.5, 48.8), mature pod length (28.6, 98.5, 52.3), branching per plant (29.3, 82.3, 54.8) and pod weight per plant (33.9, 90.0, 63.3), suggesting the effect of additive genes and reliability of selection based on phenotype of these traits for crop improvement. The positive and significant phenotypic and genotypic correlation between plant height at maturity, fresh pod width, seeds per pod and pods per plant, branches per plant with seed weight per plant and pod weight per plant, suggests that selection on the basis of the phenotype of these characters will lead to high seed and pod yield in okra. (Author) 26 refs.

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...

Connecting remote systems for demonstration of automation technologies

Science.gov (United States)

Brown, R. M.; Yee, R.

1988-01-01

An initial estimate of the communications requirements of the Systems Autonomy Demonstration Project (SADP) development and demonstration environments is presented. A proposed network paradigm is developed, and options for network topologies are explored.

The trigger card system for the MAJORANA DEMONSTRATOR

Science.gov (United States)

Thompson, William; Anderson, John; Howe, Mark; Meijer, Sam; Wilkerson, John; Majorana Collaboration

2014-09-01

The aim of the MAJORANA DEMONSTRATOR is to demonstrate the feasibility of providing low enough background levels to search for neutrinoless double-beta decay (0 νββ) in an array of germanium detectors enriched to 87% in 76Ge. Currently, it is unknown if this decay process occurs; however, observation of such a decay process would show that lepton number is violated, confirm that neutrinos are Majorana particles, and yield information on the absolute mass scale of the neutrino. With current experimental results indicating a half-life greater than 2 x 1025 years for this decay, the minimization of background events is of critical importance. Utilizing time correlation, coincidence testing is able to reject multi-detector events that may otherwise be mistaken for 0 νββ when viewed independently. Here, we present both the hardware and software of the trigger card system, which provides a common clock to all digitizers and the muon veto system, thereby enabling the rejection of background events through coincidence testing. Current experimental results demonstrate the accuracy of the distributed clock to be within two clock pulses (20 ns) across all system components. A test system is used to validate the data acquisition system. The aim of the MAJORANA DEMONSTRATOR is to demonstrate the feasibility of providing low enough background levels to search for neutrinoless double-beta decay (0 νββ) in an array of germanium detectors enriched to 87% in 76Ge. Currently, it is unknown if this decay process occurs; however, observation of such a decay process would show that lepton number is violated, confirm that neutrinos are Majorana particles, and yield information on the absolute mass scale of the neutrino. With current experimental results indicating a half-life greater than 2 x 1025 years for this decay, the minimization of background events is of critical importance. Utilizing time correlation, coincidence testing is able to reject multi-detector events that may

Estimating heritability for cause specific mortality based on twin studies

DEFF Research Database (Denmark)

Scheike, Thomas; Holst, Klaus Kähler; von Bornemann Hjelmborg, Jacob

2014-01-01

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...

Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene.

Science.gov (United States)

Backer, Julie De; Braverman, Alan C

2018-05-01

Predominant cardiovascular manifestations in the spectrum of Heritable Thoracic Aortic Disease include by default aortic root aneurysms- and dissections, which may be associated with aortic valve disease. Mitral- and tricuspid valve prolapse are other commonly recognized features. Myocardial disease, characterized by heart failure and/or malignant arrhythmias has been reported in humans and in animal models harboring pathogenic variants in the Fibrillin1 gene. Description of clinical history of three cases from one family in Ghent (Belgium) and one family in St. Louis (US). We report on three cases from two families presenting end-stage heart failure (in two) and lethal arrhythmias associated with moderate left ventricular dilatation (in one). All three cases harbor a pathogenic variant in the SMAD3 gene, known to cause aneurysm osteoarthritis syndrome, Loeys-Dietz syndrome type 3 or isolated Heritable Thoracic Aortic Disease. These unusual presentations warrant awareness for myocardial disease in patients harboring pathogenic variants in genes causing Heritable Thoracic Aortic Disease and indicate the need for prospective studies in larger cohorts. © 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

The heritability of insomnia progression during childhood/adolescence: results from a longitudinal twin study.

Science.gov (United States)

Barclay, Nicola L; Gehrman, Philip R; Gregory, Alice M; Eaves, Lindon J; Silberg, Judy L

2015-01-01

To determine prevalence and heritability of insomnia during middle/late childhood and adolescence; examine longitudinal associations in insomnia over time; and assess the extent to which genetic and environmental factors on insomnia remain stable, or whether new factors come into play, across this developmental period. Longitudinal twin study. Academic medical center. There were 739 complete monozygotic twin pairs (52%) and 672 complete dizygotic twin pairs (48%) initially enrolled and were followed up at three additional time points (waves). Mode ages at each wave were 8, 10, 14, and 15 y (ages ranged from 8-18 y). None. Clinical ratings of insomnia symptoms were assessed using the Child and Adolescent Psychiatric Assessment (CAPA) by trained clinicians, and rated according to Diagnostic and Statistical Manual of Mental Disorders (DSM)-III-R criteria for presence of 'clinically significant insomnia', over four sequential waves. Insomnia symptoms were prevalent but significantly decreased across the four waves (ranging from 16.6% to 31.2%). 'Clinically significant insomnia' was moderately heritable at all waves (h² range = 14% to 38%), and the remaining source of variance was the nonshared environment. Multivariate models indicated that genetic influences at wave 1 contributed to insomnia at all subsequent waves, and that new genetic influences came into play at wave 2, which further contributed to stability of symptoms. Nonshared environmental influences were time-specific. Insomnia is prevalent in childhood and adolescence, and is moderately heritable. The progression of insomnia across this developmental time period is influenced by stable as well as new genetic factors that come into play at wave 2 (modal age 10 y). Molecular genetic studies should now identify genes related to insomnia progression during childhood and adolescence. © 2014 Associated Professional Sleep Societies, LLC.

Survey of the Heritability and Sparse Architecture of Gene Expression Traits across Human Tissues.

Directory of Open Access Journals (Sweden)

Heather E Wheeler

2016-11-01

Full Text Available Understanding the genetic architecture of gene expression traits is key to elucidating the underlying mechanisms of complex traits. Here, for the first time, we perform a systematic survey of the heritability and the distribution of effect sizes across all representative tissues in the human body. We find that local h2 can be relatively well characterized with 59% of expressed genes showing significant h2 (FDR < 0.1 in the DGN whole blood cohort. However, current sample sizes (n ≤ 922 do not allow us to compute distal h2. Bayesian Sparse Linear Mixed Model (BSLMM analysis provides strong evidence that the genetic contribution to local expression traits is dominated by a handful of genetic variants rather than by the collective contribution of a large number of variants each of modest size. In other words, the local architecture of gene expression traits is sparse rather than polygenic across all 40 tissues (from DGN and GTEx examined. This result is confirmed by the sparsity of optimal performing gene expression predictors via elastic net modeling. To further explore the tissue context specificity, we decompose the expression traits into cross-tissue and tissue-specific components using a novel Orthogonal Tissue Decomposition (OTD approach. Through a series of simulations we show that the cross-tissue and tissue-specific components are identifiable via OTD. Heritability and sparsity estimates of these derived expression phenotypes show similar characteristics to the original traits. Consistent properties relative to prior GTEx multi-tissue analysis results suggest that these traits reflect the expected biology. Finally, we apply this knowledge to develop prediction models of gene expression traits for all tissues. The prediction models, heritability, and prediction performance R2 for original and decomposed expression phenotypes are made publicly available (https://github.com/hakyimlab/PrediXcan.

Heritability and genetic correlation between GERD symptoms severity, metabolic syndrome, and inflammation markers in families living in Mexico City

Science.gov (United States)

Reding-Bernal, Arturo; Sánchez-Pedraza, Valentin; Moreno-Macías, Hortensia; Sobrino-Cossio, Sergio; Tejero-Barrera, María Elizabeth; Burguete-García, Ana Isabel; León-Hernández, Mireya; Serratos-Canales, María Fabiola; Duggirala, Ravindranath; López-Alvarenga, Juan Carlos

2017-01-01

Objective The aim of this study was to estimate the heritability (h2) and genetic correlation (ρG) between GERD symptoms severity, metabolic syndrome components, and inflammation markers in Mexican families. Methods Cross-sectional study which included 32 extended families resident in Mexico City. GERD symptoms severity was assessed by the ReQuest in Practice questionnaire. Heritability and genetic correlation were determined using the Sequential Oligogenic Linkage Analysis Routines software. Results 585 subjects were included, the mean age was 42 (±16.7) years, 57% were women. The heritability of the severity of some GERD symptoms was h2 = 0.27, 0.27, 0.37, and 0.34 (p-value metabolic syndrome components ranged from 0.40 for fasting plasma glucose to 0.61 for body mass index and diabetes mellitus. The heritability for fibrinogen and C-reactive protein was 0.64 and 0.38, respectively. Statistically significant genetic correlations were found between acidity complaints and fasting plasma glucose (ρG = 0.40); sleep disturbances and fasting plasma glucose (ρG = 0.36); acidity complaints and diabetes mellitus (ρG = 0.49) and between total ReQuest score and fasting plasma glucose (ρG = 0.43). The rest of metabolic syndrome components did not correlate with GERD symptoms. Conclusion Genetic factors substantially explain the phenotypic variance of the severity of some GERD symptoms, metabolic syndrome components and inflammation markers. Observed genetic correlations suggest that these phenotypes share common genes. These findings suggest conducting further investigation, as the determination of a linkage analysis in order to identify regions of susceptibility for developing of GERD and metabolic syndrome. PMID:28582452

The heritability of aptitude and exceptional talent across different domains in adolescents and young adults.

Science.gov (United States)

Vinkhuyzen, Anna A E; van der Sluis, Sophie; Posthuma, Danielle; Boomsma, Dorret I

2009-07-01

The origin of individual differences in aptitude, defined as a domain-specific skill within the normal ability range, and talent, defined as a domain specific skill of exceptional quality, is under debate. The nature of the variation in aptitudes and exceptional talents across different domains was investigated in a population based twin sample. Self-report data from 1,685 twin pairs (12-24 years) were analyzed for Music, Arts, Writing, Language, Chess, Mathematics, Sports, Memory, and Knowledge. The influence of shared environment was small for both aptitude and talent. Additive and non-additive genetic effects explained the major part of the substantial familial clustering in the aptitude measures with heritability estimates ranging between .32 and .71. Heritability estimates for talents were higher and ranged between .50 and .92. In general, the genetic architecture for aptitude and talent was similar in men and women. Genetic factors contribute to a large extent to variation in aptitude and talent across different domains of intellectual, creative, and sports abilities.

The influence of heritability, neuroticism, maternal warmth and media use on disordered eating behaviors: a prospective analysis of twins.

Science.gov (United States)

Ferguson, Christopher J; Muñoz, Monica E; Winegard, Ben; Winegard, Bo

2012-09-01

The relative impact of genetic and social influences on disordered eating behaviors (DEB) including binging, purging, excessive dieting and negative self-evaluations about weight remain an issue of debate. The current study sought to examine the relative influence of genetic and social influences on DEB. A 7-year prospective analysis of 580 monozygotic (MZ) and dizygotic (DZ) twins was conducted. Estimates of heritability of DEB were obtained using the DF Analysis Model. Regression equations revealed the relative predictive value of sibling's DEB, neurotic personality, maternal warmth and television and video game exposure on DEB. Heritability estimates for DEB were 0.40 for females and 0.48 for males. Among MZ and DZ twin pairs, female sex, neurotic personality and a genetic variable component, but not maternal warmth or school related problems, predicted DEB. Contrary to the expectations of media effects theory, greater media use was associated with lower DEB among DZ twins and had no influence on MZ twins. These results indicate that DEB is highly heritable and that personality variables may play an important role in the formation of DEB. This suggests that it is important to control for genetic variables when analyzing risk factors for DEB.

The heritability of level and rate-of-change in cognitive functioning in Danish twins aged 70 years and older

DEFF Research Database (Denmark)

McGue, Matt; Christensen, Kaare

2002-01-01

To investigate heritable influences on overall level and rate-of-change in cognitive ability, biometric growth models were fit to cognitive data from nearly 1000 Danish twins age 70 years and older. Twins are participants in the ongoing Longitudinal Study of Aging Danish Twins, a cohort-sequentia......To investigate heritable influences on overall level and rate-of-change in cognitive ability, biometric growth models were fit to cognitive data from nearly 1000 Danish twins age 70 years and older. Twins are participants in the ongoing Longitudinal Study of Aging Danish Twins, a cohort......-sequential study of twins assessed every 2 years for up to four waves. Cognitive ability was assessed by five brief cognitive tasks: a fluency measure, forward and backward digit span, and immediate and delayed list recall. Model-fitting results indicated that although the overall level of cognitive functioning...... was highly heritable (h(2) = .76, 95% confidence interval of .68 to .82), the rate of linear change was not (h(2) = .06, 95% confidence interval of .00 to .57). These findings suggest that the search for specific genes might reasonably focus on average level of cognitive performance, whereas specific...

78 FR 955 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

Science.gov (United States)

2013-01-07

... Education and Training; (5) a presentation on the Duchenne Muscular Dystrophy Newborn Screening Symposium... DEPARTMENT OF HEALTH AND HUMAN SERVICES Health Resources and Services Administration Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting In accordance with...

Effects of red grape skin and seed extract supplementation on atherosclerosis in Watanabe heritable hyperlipidemic rabbits

DEFF Research Database (Denmark)

Frederiksen, Hanne; Mortensen, Alicja; Schrøder, Malene

2007-01-01

Epidemiological studies have suggested an association between consumption of red wine and other polyphenolic compounds and prevention of cardiovascular diseases. In the present study, Watanabe heritable hyperlipidemic (WHHL) rabbits were used to investigate the effects of polyphenols in a red gra...

Heritability estimates for growth-related traits using microsatellite parentage assignment in juvenile common carp (Cyprinus carpio L.)

Czech Academy of Sciences Publication Activity Database

Vandeputte, M.; Kocour, Martin; Mauger, S.; Duppont Nivet, M.; De Guerry, D.; Rodina, Marek; Gela, David; Vallod, D.; Chevassus, B.; Linhart, Otomar

2004-01-01

Roč. 235, - (2004), s. 223-236 ISSN 0044-8486 Institutional research plan: CEZ:AV0Z5045916 Keywords : common carp * Cyprinus carpio * heritability Subject RIV: ED - Physiology Impact factor: 1.627, year: 2004

Heritability of Wing Size and Shape of the Rice and Corn Strains of Spodoptera frugiperda (J.E. Smith) (Lepidoptera: Noctuidae).

Science.gov (United States)

Cañas-Hoyos, N; Márquez, E J; Saldamando-Benjumea, C I

2016-08-01

Spodoptera frugiperda (J.E. Smith) (Lepidoptera: Noctuidae) represents a pest of economic importance in all Western Hemisphere. This polyphagous species has diverged into two populations that have been mainly recognized with various mitochondrial and nuclear molecular markers and named "the rice" and "the corn" strains. In Colombia, both strains have evolved prezygotic and postzygotic isolation. They differ in tolerance to Bacillus thuringiensis (Cry1Ac and Cry1Ab endotoxins) and the insecticides lambda-cyhalothrin and methomyl. In 2014, a wing morphometric analysis made in 159 individuals from a colony showed that both strains significantly differ in wing shape. The species also exhibits sexual dimorphism in the rice strain as in females wing size is larger than in males. Here, we continued this work with another wing morphometric approach in laboratory-reared strains to calculate wing size and shape heritabilities using a full-sib design and in wild populations to determine if this method distinguishes these strains. Our results show that male heritabilities of both traits were higher than female ones. Wild populations were significantly different in wing shape and size. These results suggest that wing morphometrics can be used as an alternative method to molecular markers to differentiate adults from laboratory-reared populations and wild populations of this pest, particularly in males of this species. Finally, Q ST values obtained for wing size and shape further demonstrated that both strains are genetically differentiated in nature.

Epidemiology and Heritability of Major Depressive Disorder, Stratified by Age of Onset, Sex, and Illness Course in Generation Scotland: Scottish Family Health Study (GS:SFHS.

Directory of Open Access Journals (Sweden)

Ana Maria Fernandez-Pujals

Full Text Available The heritability of Major Depressive Disorder (MDD has been estimated at 37% based largely on twin studies that rely on contested assumptions. More recently, the heritability of MDD has been estimated on large populations from registries such as the Swedish, Finnish, and Chinese cohorts. Family-based designs utilise a number of different relationships and provide an alternative means of estimating heritability. Generation Scotland: Scottish Family Health Study (GS:SFHS is a large (n = 20,198, family-based population study designed to identify the genetic determinants of common diseases, including Major Depressive Disorder. Two thousand seven hundred and six individuals were SCID diagnosed with MDD, 13.5% of the cohort, from which we inferred a population prevalence of 12.2% (95% credible interval: 11.4% to 13.1%. Increased risk of MDD was associated with being female, unemployed due to a disability, current smokers, former drinkers, and living in areas of greater social deprivation. The heritability of MDD in GS:SFHS was between 28% and 44%, estimated from a pedigree model. The genetic correlation of MDD between sexes, age of onset, and illness course were examined and showed strong genetic correlations. The genetic correlation between males and females with MDD was 0.75 (0.43 to 0.99; between earlier (≤ age 40 and later (> age 40 onset was 0.85 (0.66 to 0.98; and between single and recurrent episodic illness course was 0.87 (0.72 to 0.98. We found that the heritability of recurrent MDD illness course was significantly greater than the heritability of single MDD illness course. The study confirms a moderate genetic contribution to depression, with a small contribution of the common family environment (variance proportion = 0.07, CI: 0.01 to 0.15, and supports the relationship of MDD with previously identified risk factors. This study did not find robust support for genetic differences in MDD due to sex, age of onset, or illness course. However

Epidemiology and Heritability of Major Depressive Disorder, Stratified by Age of Onset, Sex, and Illness Course in Generation Scotland: Scottish Family Health Study (GS:SFHS).

Science.gov (United States)

Fernandez-Pujals, Ana Maria; Adams, Mark James; Thomson, Pippa; McKechanie, Andrew G; Blackwood, Douglas H R; Smith, Blair H; Dominiczak, Anna F; Morris, Andrew D; Matthews, Keith; Campbell, Archie; Linksted, Pamela; Haley, Chris S; Deary, Ian J; Porteous, David J; MacIntyre, Donald J; McIntosh, Andrew M

2015-01-01

The heritability of Major Depressive Disorder (MDD) has been estimated at 37% based largely on twin studies that rely on contested assumptions. More recently, the heritability of MDD has been estimated on large populations from registries such as the Swedish, Finnish, and Chinese cohorts. Family-based designs utilise a number of different relationships and provide an alternative means of estimating heritability. Generation Scotland: Scottish Family Health Study (GS:SFHS) is a large (n = 20,198), family-based population study designed to identify the genetic determinants of common diseases, including Major Depressive Disorder. Two thousand seven hundred and six individuals were SCID diagnosed with MDD, 13.5% of the cohort, from which we inferred a population prevalence of 12.2% (95% credible interval: 11.4% to 13.1%). Increased risk of MDD was associated with being female, unemployed due to a disability, current smokers, former drinkers, and living in areas of greater social deprivation. The heritability of MDD in GS:SFHS was between 28% and 44%, estimated from a pedigree model. The genetic correlation of MDD between sexes, age of onset, and illness course were examined and showed strong genetic correlations. The genetic correlation between males and females with MDD was 0.75 (0.43 to 0.99); between earlier (≤ age 40) and later (> age 40) onset was 0.85 (0.66 to 0.98); and between single and recurrent episodic illness course was 0.87 (0.72 to 0.98). We found that the heritability of recurrent MDD illness course was significantly greater than the heritability of single MDD illness course. The study confirms a moderate genetic contribution to depression, with a small contribution of the common family environment (variance proportion = 0.07, CI: 0.01 to 0.15), and supports the relationship of MDD with previously identified risk factors. This study did not find robust support for genetic differences in MDD due to sex, age of onset, or illness course. However, we found

ELISA, a demonstrator environment for information systems architecture design

Science.gov (United States)

Panem, Chantal

1994-01-01

This paper describes an approach of reusability of software engineering technology in the area of ground space system design. System engineers have lots of needs similar to software developers: sharing of a common data base, capitalization of knowledge, definition of a common design process, communication between different technical domains. Moreover system designers need to simulate dynamically their system as early as possible. Software development environments, methods and tools now become operational and widely used. Their architecture is based on a unique object base, a set of common management services and they host a family of tools for each life cycle activity. In late '92, CNES decided to develop a demonstrative software environment supporting some system activities. The design of ground space data processing systems was chosen as the application domain. ELISA (Integrated Software Environment for Architectures Specification) was specified as a 'demonstrator', i.e. a sufficient basis for demonstrations, evaluation and future operational enhancements. A process with three phases was implemented: system requirements definition, design of system architectures models, and selection of physical architectures. Each phase is composed of several activities that can be performed in parallel, with the provision of Commercial Off the Shelves Tools. ELISA has been delivered to CNES in January 94, currently used for demonstrations and evaluations on real projects (e.g. SPOT4 Satellite Control Center). It is on the way of new evolutions.

Heritability and combining ability of vegetative growth and phenological development of diallel crosses of rapeseed

Directory of Open Access Journals (Sweden)

Naheed Hafsa

2017-01-01

Full Text Available To estimate combining ability and heritability of F2 populations of 4 x 4 full diallel crosses and parents, an experiment was carried out at The University of Agriculture, during 2012-2013. Four parental lines and F2 populations of six direct and six reciprocal crosses were planted in the experiment using RCB design. Data were recorded on phenological and vegetative growth traits: Days to flowering, plant height, main stem length, main raceme length, primary branches, and days to maturity. Analysis of variance revealed significant variation among genotypes for all the parameters studied. The results of combining ability analysis showed that general combining ability (GCA was highly significant for primary branches plant-1, significant for plant height and days to physiological maturity and non-significant for the remaining traits. Specific combining ability (SCA and reciprocal effects (RE were significant for plant height, days to flowering, main raceme length and days to physiological maturity. Genotype AUP-401 was best general combiner for main raceme length, primary branches plant-1 and days to physiological maturity. Among the crosses, AUP-404 x AUP-402 was best specific combiner for plant height, days to flowering and main stem length. Broad sense heritability was high (>70% for plant height, main stem length and primary branches. Moderate heritability was observed for main raceme length, days to 50% flowering and days to physiological maturity. The variance components of SCA were greater than respective GCA components of all the characters signifying the presence of non- additive genetic effects in transfer of these traits and selection in the later generations should be practiced for improvement of these traits.

Large scale gas chromatographic demonstration system for hydrogen isotope separation

International Nuclear Information System (INIS)

Cheh, C.H.

1988-01-01

A large scale demonstration system was designed for a throughput of 3 mol/day equimolar mixture of H,D, and T. The demonstration system was assembled and an experimental program carried out. This project was funded by Kernforschungszentrum Karlsruhe, Canadian Fusion Fuel Technology Projects and Ontario Hydro Research Division. Several major design innovations were successfully implemented in the demonstration system and are discussed in detail. Many experiments were carried out in the demonstration system to study the performance of the system to separate hydrogen isotopes at high throughput. Various temperature programming schemes were tested, heart-cutting operation was evaluated, and very large (up to 138 NL/injection) samples were separated in the system. The results of the experiments showed that the specially designed column performed well as a chromatographic column and good separation could be achieved even when a 138 NL sample was injected

The WIPP transportation system: Demonstrated readiness

International Nuclear Information System (INIS)

Ward, T.R.; Spooner, R.

1991-01-01

The Department of Energy (DOE) has developed an integrated transportation system to transport transuranic (TRU) waste from ten widely-dispersed generator sites to the Waste Isolation Pilot Plant (WIPP). The system consists of a Type B container, a specially- designed trailer, a lightweight tractor, the DOE ''TRANSCOM'' vehicle tracking system, and uniquely qualified and highly-trained drivers. In June of 1989, the National Academy of Sciences reviewed the transportation system and concluded that: ''The system proposed for transportation of TRU waste to WIPP is safer than that employed for any other hazardous material in the United States today and will reduce risk to very low levels'' (emphasis added). The next challenge facing the DOE was demonstrating that this system was ready to transport the TRU waste to the WIPP site efficiently and in the safest manner possible. Not only did the DOE feel that is was necessary to convince itself that the system was safe, but also representatives of the 20 states through which it would travel

The WIPP transportation system: Demonstrated readiness

International Nuclear Information System (INIS)

Ward, T.R.; Spooner, R.

1991-01-01

The Department of Energy (DOE) has developed an integrated transportation system to transport transuranic (TRU) waste from ten widely-dispersed generator sites to the Waste Isolation Pilot Plant (WIPP). The system consists of a Type B container, a specially-designed trailer, a lightweight tractor, the DOE ''TRANSCOM'' vehicle tracing system, and uniquely qualified and highly-trained drivers. In June of 1989, the National Academy of Sciences reviewed the transportation system and concluded that: ''The system proposed for transportation of TRU waste to WIPP is safer than that employed for any other hazardous material in the United States today and will reduce risk to very low levels.'' The next challenge facing the DOE was demonstrating that this system was ready to transport the TRU waste to the WIPP site in the safest manner possible. Not only did the DOE feel that it was necessary to convince itself that the system was safe, but also representatives of the 23 states through which it traveled

Nuclear Systems (NS): Technology Demonstration Unit (TDU)

Data.gov (United States)

National Aeronautics and Space Administration — The Nuclear Systems Project demonstrates nuclear power technology readiness to support the goals of NASA's Space Technology Mission Directorate. To this end, the...

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. 

Variability, heritability, character association, path analysis and morphological diversity in snake gourd

Directory of Open Access Journals (Sweden)

A.S.M. Mahbubur Rahman Khan

2016-11-01

Full Text Available Genetic variability, heritability and path coefficient analysis were studied in 21 genotypes of snake gourd. The phenotypic coefficient of variations was found slightly higher than the genotypic coefficient of variations for all characters studied, indicating that the apparent variation is not only genetic but also influenced by the growing environment in the expression of the traits. The genotypic coefficient of variation was high for the fruit yield, number of fruits per vine, length of fruit and single fruit weight. High heritability coupled with high-to-moderate genetic advance was estimated for all characters studied. Correlation studies revealed that the fruit yield had a significant, positive correlation with the number of fruits per vine, length of fruit and single fruit weight. Importantly, more than 90% of the genotypic total variation was contributed by the characters included in the path analysis. The highest, direct, positive effect was recorded for the number of fruits per vine. The divergence value for cluster analysis indicated that the genotypes from clusters II and III had the highest inter-cluster distance and were expected to provide high heterosis in hybridization and to show wide variability in genetic architecture. The selection of high yielding genotypes should give emphasis to the number of fruits per vine, length of fruit and single fruit weight.

Variable acuity remote viewing system flight demonstration

Science.gov (United States)

Fisher, R. W.

1983-01-01

The Variable Acuity Remote Viewing System (VARVS), originally developed under contract to the Navy (ONR) as a laboratory brassboard, was modified for flight demonstration. The VARVS system was originally conceived as a technique which could circumvent the acuity/field of view/bandwidth tradeoffs that exists in remote viewing to provide a nearly eye limited display in both field of view (160 deg) and resolution (2 min arc) while utilizing conventional TV sensing, transmission, and display equipment. The modifications for flight demonstration consisted of modifying the sensor so it could be installed and flow in a Piper PA20 aircraft, equipped for remote control and modifying the display equipment so it could be integrated with the NASA Research RPB (RPRV) remote control cockpit.

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

Exploration Medical System Demonstration (EMSD) Project

Science.gov (United States)

Chin, Duane

2012-01-01

The Exploration Medical System Demonstration (EMSD) is a project under the Exploration Medical Capability (ExMC) element managed by the Human Research Program (HRP). The vision for the EMSD is to utilize ISS as a test bed to show that several medical technologies needed for an exploration mission and medical informatics tools for managing evidence and decision making can be integrated into a single system and used by the on-orbit crew in an efficient and meaningful manner. Objectives: a) Reduce and even possibly eliminate the time required for on-orbit crew and ground personnel (which include Surgeon, Biomedical Engineer (BME) Flight Controller, and Medical Operations Data Specialist) to access and move medical data from one application to another. b) Demonstrate that the on-orbit crew has the ability to access medical data/information using an intuitive and crew-friendly software solution to assist/aid in the treatment of a medical condition. c) Develop a common data management framework and architecture that can be ubiquitously used to automate repetitive data collection, management, and communications tasks for all crew health and life sciences activities.

The effect of trait type and strength of selection on heritability and evolvability in an island bird population.

Science.gov (United States)

Wheelwright, Nathaniel T; Keller, Lukas F; Postma, Erik

2014-11-01

The heritability (h(2) ) of fitness traits is often low. Although this has been attributed to directional selection having eroded genetic variation in direct proportion to the strength of selection, heritability does not necessarily reflect a trait's additive genetic variance and evolutionary potential ("evolvability"). Recent studies suggest that the low h(2) of fitness traits in wild populations is caused not by a paucity of additive genetic variance (VA ) but by greater environmental or nonadditive genetic variance (VR ). We examined the relationship between h(2) and variance-standardized selection intensities (i or βσ ), and between evolvability (IA :VA divided by squared phenotypic trait mean) and mean-standardized selection gradients (βμ ). Using 24 years of data from an island population of Savannah sparrows, we show that, across diverse traits, h(2) declines with the strength of selection, whereas IA and IR (VR divided by squared trait mean) are independent of the strength of selection. Within trait types (morphological, reproductive, life-history), h(2) , IA , and IR are all independent of the strength of selection. This indicates that certain traits have low heritability because of increased residual variance due to the age at which they are expressed or the multiple factors influencing their expression, rather than their association with fitness. © 2014 The Author(s). Evolution © 2014 The Society for the Study of Evolution.

Heritability of feather pecking and open-field response of laying hens at two different ages

NARCIS (Netherlands)

Rodenburg, T.B.; Buitenhuis, A.J.; Ask, B.; Uitdehaag, K.A.; Koene, P.; Poel, van der J.J.; Bovenhuis, H.

2003-01-01

The objective of the current study was to estimate heritabilities. (h(2)) of feather pecking and open-field response of laying hens at two different ages. An F-2 cross, originating from a high and a low feather pecking line of laying hens, was used for the experiment. Each of the 630 birds of the

Assessment of heritability and genetic advance for agronomic traits in durum wheat (Triticum durum Desf.

Directory of Open Access Journals (Sweden)

HASSAN NIKKHAHKOUCHAKSARAEI

2017-09-01

Full Text Available In order to evaluate the amount of heritability for desirable agronomic characteristics and the genetic progress associated with grain yield of durum wheat (Triticum durum Desf., a split plot experiment was carried out with four replications during three cropping seasons (2009-2012. Three sowing dates (as environmental factor and six durum wheat varieties (as genotypic factor were considered as main and sub factors respectively. Analysis of variance showed interaction effects between genotypes and environments in days to ripening, plant height, spike length, number of grains per spike, number of spikes per unit area, grain mass and grain yield. The grain yield showed the highest positive correlation with number of grains per spike also grain mass (91 % and 85 %, respectively. A relatively high heritability of these traits (82.1 % and 82.2 %, respectively suggests that their genetic improvement is possible. The maximum genetic gain (19.6 % was observed for grain mass, indicating this trait should be a very important indicator for durum wheat breeders, although the climatic effects should not be ignored.

Studies on heritability and genetic advance in chickpea (cicer arietinum L.)

International Nuclear Information System (INIS)

Yaqoob, M.; Bakhsh, A.; Zahid, M.A.

2010-01-01

Studies on estimation of heritability (h2) and genetic advance (GA) were carried out in twenty desi-type chickpea genotypes. The experiment was carried out at Agricultural Research Institute, Dera Ismail Khan, in RCBD with three repeats. The data were recorded on: days to 50% flowering, days to pod-maturity, plant height, number of branches, number of pods per plant, 1000-seed weight, no. of seeds per pod, plant biomass, grain yield and harvest index. The results of analysis-of-variance revealed significant differences among genotypes for 5 out of ten traits. Phenotypic coefficients of variability (PCV) were higher in magnitude than their respective genotypic coefficients of variability (GCV) in all the traits, thereby showing the dominant effect of environment. The maximum h2 estimates are obtained for 1000-seed weight, followed by number of seeds per pod, days to 500;0 flowering and days to pod- maturity. The grain yield, harvest index and plant biomass exhibited low heritability, which indicate the major role of environmental factors in the expression of these traits. High h2, coupled with high genetic advance, for 1000 grain weight and number of pods per plant indicated the additive gene effects determining these traits, whereas, high h2, coupled with low genetic advance, for number of seeds per pod indicated the involvement of dominant and epi static genetic effects for these traits. Selection for improvement of 1000-grain weight and number of pods per plant may be practiced in early germination, whereas it should be delayed in the case of seeds per pod. (author)

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

An inspection demonstration program/a quality system

International Nuclear Information System (INIS)

Cox, L.D.

1995-01-01

Mobil relies on tubular manufacturers to consistently supply OCTG which complies with all material requirements of API Specification 5CT. This paper details the Mobil Inspection Demonstration Program; Mobil's method for qualifying ultrasonic inspection systems for use during Mobil receiving inspections. Additionally, the basic fundamentals of the Mobil quality system and acceptance sampling are presented with an emphasis on tracking short-term and long-term supplier performance

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.

Effect of ATM heterozygosity on heritable DNA damage in mice following paternal F0 germline irradiation

International Nuclear Information System (INIS)

Baulch, Janet E.; Li, M.-W.; Raabe, Otto G.

2007-01-01

The ataxia telangiectasia mutated (ATM) gene product maintains genome integrity and initiates cellular DNA repair pathways following exposures to genotoxic agents. ATM also plays a significant role in meiotic recombination during spermatogenesis. Fertilization with sperm carrying damaged DNA could lead to adverse effects in offspring including developmental defects or increased cancer susceptibility. Currently, there is little information regarding the effect of ATM heterozygosity on germline DNA repair and heritable effects of paternal germline-ionizing irradiation. We used neutral pH comet assays to evaluate spermatozoa 45 days after acute whole-body irradiation of male mice (0.1 Gy, attenuated 137 Cs γ rays) to determine the effect of ATM heterozygosity on delayed DNA damage effects of Type A/B spermatogonial irradiation. Using the neutral pH sperm comet assay, significant irradiation-related differences were found in comet tail length, percent tail DNA and tail extent moment, but there were no observed differences in effect between wild-type and ATM +/- mice. However, evaluation of spermatozoa from third generation descendants of irradiated male mice for heritable chromatin effects revealed significant differences in DNA electrophoretic mobility in the F 3 descendants that were based upon the irradiated F 0 sire's genotype. In this study, radiation-induced chromatin alterations to Type A/B spermatogonia, detected in mature sperm 45 days post-irradiation, led to chromatin effects in mature sperm three generations later. The early cellular response to and repair of DNA damage is critical and appears to be affected by ATM zygosity. Our results indicate that there is potential for heritable genetic or epigenetic changes following Type A/B spermatogonial irradiation and that ATM heterozygosity increases this effect

HERITABILITY AND RESPONSE TO SELECTION FOR GROWTH IN THE F1 GENERATION OF CRAYFISH Procambarus acanthophorus

Directory of Open Access Journals (Sweden)

Carlos Perez Rostro

2012-11-01

Full Text Available The crayfish Procambarus (A. acanthophorus is a crustacean relevant for regional fisheries in Veracruz, Mexico, with ideal aquaculture characteristics, except for its small size. Thus, a study was conducted with the aim to evaluate the response to selection in the first generation (F1 and heritability (h2 of the crayfish. A group of 2135 organisms with average weight (±S.D. 4.1 ± 1.79 g were captured from the wild (G0, and 10 % (i = 1,755 of the population was selected with the highest body weight by gender: 140 females (5.62 ± 1.97 g and 48 males (6.02 ± 1.9 g, forming the progenitors of the selection line (LS. The control line (LC was formed from a batch obtained at random. Thirty full-sib families were obtained per line (F1, and cultured individually for five months in a recirculation system with mechanical and biological filtration under laboratory conditions and supplied with food twice a day (Camaronina 35 % protein. Monthly heritability (h2 in broad sense was estimated using a full-sib design, based on the components of variance (ANOVA REML method and the growth was compared between lines in the F1. The mean h2's for weight after five months of culture were 0.27±0.11 for LC and 0.34±0.12 for LS, being the LS in F1 9.6 % heavier than the LC, with 84 and 88 % survival at the end of the study. It is possible to implement a breeding program based on selection for species growth.

Evidence for varied aetiologies regulating the transmission of prion disease: implications for understanding the heritable basis of prion incubation times.

Directory of Open Access Journals (Sweden)

Conrad O Iyegbe

2010-12-01

Full Text Available Transmissible Spongiform Encephalopathies (TSEs are a group of progressive fatal neurodegenerative disorders, triggered by abnormal folding of the endogenous prion protein molecule. The encoding gene is a major biological factor influencing the length of the asymptomatic period after infection. It remains unclear the extent to which the variation between quantitative trait loci (QTLs reported in mouse models is due to methodological differences between approaches or genuine differences between traits. With this in mind, our approach to identifying genetic factors has sought to extend the linkage mapping approach traditionally applied, to a series of additional traits, while minimising methodological variability between them. Our approach allows estimations of heritability to be derived, as well as predictions to be made about possible existence of genetic overlap between the various traits.Our data indicate a surprising degree of heritability (up to 60%. Correlations between traits are also identified. A series of QTLs on chromosomes 1, 2, 3, 4, 6, 11 and 18 accompany our heritability estimates. However, only a locus on chromosome 11 has a general effect across all 4 models explored.We have achieved some success in detecting novel and pre-existing QTLs associated with incubation time. However, aside from the general effects described, the model-specific nature of the broader host genetic architecture has also been brought into clearer focus. This suggests that genetic overlap can only partially account for the general heritability of incubation time when factors, such as the nature of the TSE agent and the route of administration are considered. This point is highly relevant to vCJD (a potential threat to public health where the route of primary importance is oral, while the QTLs being sought derive exclusively from studies of the ic route. Our results highlight the limitations of a single-model approach to QTL-mapping of TSEs.

Additive Genetic Effects on Circulating Periostin Contribute to the Heritability of Bone Microstructure.

Science.gov (United States)

Bonnet, N; Biver, E; Durosier, C; Chevalley, T; Rizzoli, R; Ferrari, S

2015-07-01

Genetic factors account for 60-80% of the areal bone mineral density (aBMD) variance, whereas the heritability of bone microstructure is not clearly established. aBMD and microstructure are under the control of osteocytes, which regulate bone formation through the expression of molecules such as sclerostin (SOST) and periostin (POSTN). We hypothesized that additive genetic effects contribute to serum levels of SOST and POSTN and thereby to the individual variance of bone microstructure. In a retrospective analysis of 432 subjects from the Geneva Retiree Cohort age 64.9 ± 1.4 years and 96 of their offspring age 37.9 ± 5.7 years, we measured serum SOST (sSOST) and serum POSTN (sPOSTN), distal radius and tibia microstructure, hip and lumbar spine aBMD, and bone turnover markers, Heritability (h(2), %) was calculated as twice the slope of the regression (β) between parents and offspring. cPOSTN levels were significantly higher in men than women and in offspring than parents. h(2) values for bone microstructural traits ranged from 22-64% depending on the envelope (trabecular [Tb] or cortical [Ct]) and skeletal site (radius or tibia), whereas h(2) for sPOSTN and sSOST was 50% and 40%, respectively. sPOSTN was positively associated with Tb bone volume on total volume and Ct thickness, and negatively with Ct porosity. The associations for Ct parameters remain significant after adjustment for propetide of type-I procollagen, cross-linked telopeptide of type I collagen, femoral neck aBMD, sex or age. After adjustment of bone traits for sPOSTN, h(2) values decreased for several Tb and Ct bone parameters, but not for aBMD. In contrast, adjusting for sSOST did not alter h(2) values for bone traits. Additive genetic effects account for a substantial proportion of the individual variance of bone microstructure, sPOSTN, and sSOST. sPOSTN is largely inherited as a sex-related trait and carries an important contribution to the heritability of bone microstructure, indicating that

FY 2000 report on the demonstrative research for photovoltaic power generation system in Thailand. Demonstrative study on photovoltaic power generation grid-connected system

Energy Technology Data Exchange (ETDEWEB)

NONE

2001-09-01

In relation to the demonstrative study of the photovoltaic power system that is planned in Libong island, Thailand, the FY 2000 results were reported. In this R and D, construction/demonstrative operation were planned for a photovoltaic power station with a generation output of 100kW, photovoltaic power system in school facilities, and system for transmitting/distributing power to houses by connecting the power station and power system. In this fiscal year, the field survey was conducted together with the alteration from Yao Yai island, for which the demonstrative study was planned at first, to Libong island. The electric equipment was selected which met the requests from Thailand and the results of the field survey, and the basic design of the photovoltaic power generation/transmission/distribution system was completed. Based on this, the design/manufacture of photovoltaic power generation modules, power control equipment, measuring equipment, etc. were made. At the construction site of photovoltaic power station, construction work such as land formation was conducted. Further, Thai engineers who visited Japan did the following: discussions about power system, presence at test/inspection of photovoltaic power generation modules, visits to photovoltaic power stations, wind power stations, etc. (NEDO)

Heritability, assortative mating and gender differences in violent crime: results from a total population sample using twin, adoption, and sibling models.

Science.gov (United States)

Frisell, Thomas; Pawitan, Yudi; Långström, Niklas; Lichtenstein, Paul

2012-01-01

Research addressing genetic and environmental determinants to antisocial behaviour suggests substantial variability across studies. Likewise, evidence for etiologic gender differences is mixed, and estimates might be biased due to assortative mating. We used longitudinal Swedish total population registers to estimate the heritability of objectively measured violent offending (convictions) in classic twin (N = 36,877 pairs), adoptee-parent (N = 5,068 pairs), adoptee-sibling (N = 10,610 pairs), and sibling designs (N = 1,521,066 pairs). Type and degree of assortative mating were calculated from comparisons between spouses of siblings and half-siblings, and across consecutive spouses. Heritability estimates for the liability of violent offending agreed with previously reported heritability for self-reported antisocial behaviour. While the sibling model yielded estimates similar to the twin model (A ≈ 55%, C ≈ 13%), adoptee-models appeared to underestimate familial effects (A ≈ 20-30%, C ≈ 0%). Assortative mating was moderate to strong (r (spouse) = 0.4), appeared to result from both phenotypic assortment and social homogamy, but had only minor effect on variance components. Finally, we found significant gender differences in the etiology of violent crime.

A demonstrator for an integrated subway protection system

Science.gov (United States)

Detoma, E.; Capetti, P.; Casati, G.; Billington, S.

2008-04-01

In 2006 SEPA has carried on the installation and tests of a demonstrator for an integrated subway protection system at a new subway station in the Naples, Italy) metropolitan area. Protection of a subway system is a difficult task given the amount of passengers transported every day. The demonstrator has been limited to non-intrusive detection techniques not to impair the passenger flow into the station. The demonstrator integrates several technologies and products that have been developed by SEPA or are already available on the market (MKS Instruments,...). The main purpose is to provide detection capabilities for attempts to introduce radioactive substances in the subway station, in order to foil possible attempts to place a dirty bomb, and threat detection and identification following release of chemical agents. The system integrates additional sensors such as video surveillance cameras and air flow sensing to complement the basic sensors suite. The need to protect sensitive installations such as subway stations has been highlighted by the series of terroristics actions carried out in recent years in the subway in London. However, given the number of passengers of a metro system, it is impossible to propose security techniques operating in ways similar to the screening of passengers in airports. Passengers screening and threat detection and identification must be quick, non-intrusive and capable of screening a large number of passengers to be applicable to mass transit systems. In 2005 SEPA, a small company operating in the field of trains video-surveillance systems and radiation detectors, started developing an integrated system to provide a comprehensive protection to subway stations, based on ready available or off-the-shelf components in order to quickly develop a reliable system with available technology. We ruled out at the beginning any new development in order to speed up the fielding of the system in less than one year. The system was developed with

Morphological evolution and heritability estimates for some biometric traits in the Murgese horse breed.

Science.gov (United States)

Dario, C; Carnicella, D; Dario, M; Bufano, G

2006-06-30

A data set concerning 1,816 subjects entered in the Italian Horse Registry from 1925 to 2002 was analyzed to investigate the morphological evolution of the Murgese horse and to obtain useful elements to enhance breeding practices. Three basic body measurements (height at withers, chest girth, and cannon bone circumference) were considered for each subject. Heritabilities were calculated for each parameter to infer the growth and development traits of this breed. Over the past 20 years the Murgese horse has undergone considerable changes, passing from a typical mesomorphic structure (height at withers: 156.30 and 151.04 cm; chest girth: 185.80 and 176.11 cm; cannon bone: 21.10 and 19.82 cm for males and females, respectively) to a mesodolichomorphic structure (height at withers: 160.31 and 156.44 cm; chest girth: 187.89 and 182.48 cm; cannon bone: 21.07 and 20.37 cm, for males and females, respectively). Due to these changes and to its characteristic strength and power, the Murgese, which was once used in agriculture and for meat production (at the end of its life), is now involved in sports, mainly in trekking and equestrian tourism. The heritability estimates for the three body measurements were found to be 0.24, 0.39 and 0.44.

Demonstrating Operating System Principles via Computer Forensics Exercises

Science.gov (United States)

Duffy, Kevin P.; Davis, Martin H., Jr.; Sethi, Vikram

2010-01-01

We explore the feasibility of sparking student curiosity and interest in the core required MIS operating systems course through inclusion of computer forensics exercises into the course. Students were presented with two in-class exercises. Each exercise demonstrated an aspect of the operating system, and each exercise was written as a computer…

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...

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 and heritab......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...... 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...... not have had a total hip arthroplasty at the time of follow-up. RESULTS: There were 94,063 twins eligible for analyses, comprising 835 cases of 36 concordant and 763 discordant twin pairs. The probability increased particularly from 50 years of age. After sex and age adjustment a significant additive...

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.

Demonstration of Laser Cutting System for Tube Specimen

Energy Technology Data Exchange (ETDEWEB)

Jin, Y. G.; Kim, G. S.; Heo, G. S.; Baik, S. J.; Kim, H. M.; Ahn, S. B. [KAERI, Daejeon (Korea, Republic of)

2016-05-15

The oxide layer removal system was also developed because the oxide layer on the surface of the irradiated fuel cladding and components interrupted the applying the electric current during the processing. However, it was found that the mechanical testing data of the irradiated specimens with removal of oxide layer was less reliable than the specimens with oxide layer . The laser cutting system using Nd:YAG with fiber optic beam delivery has great potential in material processing applications of the irradiated fuel cladding and components due to non-contact process. Thus, the oxide layer doesn't interrupt the fabrication process during the laser cutting system. In the present study, the laser cutting system was designed to fabricate the mechanical testing specimens from the unirradiated fuel cladding with and without oxide. The feasibility of the laser cutting system was demonstrated for the fabrication of various types of unirradiated specimens. The effect of surface oxide layer was also investigated for machining process of the zirlo fuel cladding and it was found that laser beam machining could be a useful tool to fabricate the specimens with surface oxide layer. Based on the feasibility studies and demonstration, the design of the laser cutting machine for fully or partially automatic and remotely operable system will be proposed and made.

The Heritability of Cluster B Personality Disorders Assessed both by Personal Interview and Questionnaire

OpenAIRE

Torgersen, Svenn; Myers, John; Reichborn-Kjennerud, Ted; Røysamb, Espen; Kubarych, Thomas S.; Kendler, Kenneth S.

2012-01-01

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 ...

On the Nature and Nurture of Intelligence and Specific Cognitive Abilities: The More Heritable, the More Culture Dependent

NARCIS (Netherlands)

Kan, K.J.; Wicherts, J.M.; Dolan, C.V.; van der Maas, H.L.J.

2013-01-01

To further knowledge concerning the nature and nurture of intelligence, we scrutinized how heritability coefficients vary across specific cognitive abilities both theoretically and empirically. Data from 23 twin studies (combined N = 7,852) showed that (a) in adult samples, culture-loaded subtests

On the nature and nurture of intelligence and specific cognitive abilities : The more heritable, the more culture dependent

NARCIS (Netherlands)

Kan, K.J.; Wicherts, J.M.; Dolan, C.; van der Maas, H.L.J.

2013-01-01

To further knowledge concerning the nature and nurture of intelligence, we scrutinized how heritability coefficients vary across specific cognitive abilities both theoretically and empirically. Data from 23 twin studies (combined N = 7,852) showed that (a) in adult samples, culture-loaded subtests

Gene-environment interplay in alcoholism and other substance abuse disorders: expressions of heritability and factors influencing vulnerability.

Science.gov (United States)

Palomo, Tomas; Kostrzewa, R M; Beninger, R J; Archer, T

2004-01-01

Factors that confer predisposition and vulnerability for alcoholism and other substance abuse disorders may be described usefully within the gene-environment interplay framework. Thus, it is postulated that heritability provides a major contribution not only to alcohol but also to other substances of abuse. Studies of evoked potential amplitude reduction have provided a highly suitable and testable method for the assessment of both environmentally-determined and heritable characteristics pertaining to substance use and dependence. The different personal attributes that may co-exist with parental influence or exist in a shared, monozygotic relationship contribute to the final expression of addiction. In this connection, it appears that personality disorders are highly prevalent co-morbid conditions among addicted individuals, and, this co-morbidity is likely to be accounted for by multiple complex etiological relationships, not least in adolescent individuals. Co-morbidity associated with deficient executive functioning may be observed too in alcohol-related aggressiveness and crimes of violence. The successful intervention into alcohol dependence and craving brought about by baclofen in both human and animal studies elucidates glutamatergic mechanisms in alcoholism whereas the role of the dopamine transporter, in conjunction with both the noradrenergic and serotonergic transporters, are implicated in cocaine dependence and craving. The role of the cannabinoids in ontogeny through an influence upon the expression of key genes for the development of neurotransmitter systems must be considered. Finally, the particular form of behaviour/characteristic outcome due to childhood circumstance may lie with biological, gene-based determinants, for example individual characteristics of monoamine oxidase (MAO) activity levels, thereby rendering simple predictive measures both redundant and misguiding.

Variability, heritability and genetic advance in F2 populations of aromatic rice involving induced mutants and Basmati varieties

International Nuclear Information System (INIS)

Hasib, K.M.; Ganguli, P.K.; Kole, P.C.

2000-01-01

The F 2 generation of five cross-combinations of aromatic rice involving two induced mutants 124-17-4 and 21-6-1 of aromatic tall Indica cultivar Gobindabhog and three basmati varieties was studied for mean performance, variability, heritability and genetic advance. The cross 21-6-1/Pakistan Basmati showed higher mean values for grain yield plant, and several yield components. Wide variability was observed for panicle number plant, filled grains panicle, test weight, dry matter production plant, harvest index and grain yield plant. Among the traits, filled grains panicle and test weight in all the crosses, grain yield plant, in five crosses and harvest index in two crosses had high heritability coupled with high genetic advance indicating predominant role of additive gene action. The crosses 21-6-1/Pakistan Basmati and 124-17-4/Pusa Basmati I could be exploited for isolation of promising aromatic recombinants. (author)

Genetic Diversity, Population Structure, and Heritability of Fruit Traits in Capsicum annuum

Science.gov (United States)

Naegele, Rachel P.; Mitchell, Jenna; Hausbeck, Mary K.

2016-01-01

Cultivated pepper (Capsicum annuum) is a phenotypically diverse species grown throughout the world. Wild and landrace peppers are typically small-fruited and pungent, but contain many important traits such as insect and disease resistance. Cultivated peppers vary dramatically in size, shape, pungency, and color, and often lack resistance traits. Fruit characteristics (e.g. shape and pericarp thickness) are major determinants for cultivar selection, and their association with disease susceptibility can reduce breeding efficacy. This study evaluated a diverse collection of peppers for mature fruit phenotypic traits, correlation among fruit traits and Phytophthora fruit rot resistance, genetic diversity, population structure, and trait broad sense heritability. Significant differences within all fruit phenotype categories were detected among pepper lines. Fruit from Europe had the thickest pericarp, and fruit from Ecuador had the thinnest. For fruit shape index, fruit from Africa had the highest index, while fruit from Europe had the lowest. Five genetic clusters were detected in the pepper population and were significantly associated with fruit thickness, end shape, and fruit shape index. The genetic differentiation between clusters ranged from little to very great differentiation when grouped by the predefined categories. Broad sense heritability for fruit traits ranged from 0.56 (shoulder height) to 0.98 (pericarp thickness). When correlations among fruit phenotypes and fruit disease were evaluated, fruit shape index was negatively correlated with pericarp thickness, and positively correlated with fruit perimeter. Pepper fruit pericarp, perimeter, and width had a slight positive correlation with Phytophthora fruit rot, whereas fruit shape index had a slight negative correlation. PMID:27415818

Heritability of the morphology of optic nerve head and surrounding structures: The Healthy Twin Study.

Directory of Open Access Journals (Sweden)

Jong Chul Han

Full Text Available Optic nerve head (ONH and surrounding structures such as β-zone peripapillary atrophy (PPA are important structures in glaucomatous pathogenesis. Thus, for understanding genetic components in glaucoma pathogenesis, it is necessary to evaluate the heritability of ONH and surrounding structures. The present study investigated the genetic influences on ONH and surrounding structures such as β-zone PPA and retinal vessels.A total of 1,205 adult twins and their family members (362 monozygotic (MZ twin subjects (181 pairs, 64 dizygotic (DZ twin subjects (32 pairs, and 779 singletons from 261 families, were part of the Korean Healthy Twin Study. ONH parameters including the vertical cup-to-disc ratio, the presence, the area and the location of β-zone PPA and the angular location of retinal vein were measured. The genetic influences on the structures were evaluated using variance-component methods.The intraclass correlation coefficient (ICC values of axial length were highest among the parameters. The ICCs of the area and location of PPA were similar to those of vertical cup-to-disc ratio. However, retinal vessel angular locations showed low ICC values even in MZ twins. After age and sex adjustment, for axial length, vertical cup-to-disc ratio, the presence, area and location of PPA, the estimated narrow-sense heritability was 0.85, 0.48, 0.76, 0.50 and 0.65 in the right eye and 0.84, 0.47, 0.72, 0.46 and 0.72 in the left eye, respectively. The estimated narrow-sense heritability of angular location of the superior and inferior vein was 0.17 and 0.12 in the right eye and 0.13 and 0.05 in the left eye, respectively.ONH and surrounding structures such as vertical cup-to-disc ratio and the presence, the area and the location of β-zone PPA seemed to be determined by the substantial genetic influence, whereas the venous angular location did not.

Body condition score of Nellore beef cows: a heritable measure to improve the selection of reproductive and maternal traits.

Science.gov (United States)

Fernandes, A F A; Neves, H H R; Carvalheiro, R; Oliveira, J A; Queiroz, S A

2015-08-01

Despite the economic importance of beef cattle production in Brazil, female reproductive performance, which is strongly associated with production efficiency, is not included in the selection index of most breeding programmes due to low heritability and difficulty in measure. The body condition score (BCS) could be used as an indicator of these traits. However, so far little is known about the feasibility of using BCS as a selection tool for reproductive performance in beef cattle. In this study, we investigated the sources of variation in the BCS of Nellore beef cows, quantified its association with reproductive and maternal traits and estimated its heritability. BCS was analysed using a logistic model that included the following effects: contemporary group at weaning, cow weight and hip height, calving order, reconception together with the weight and scores of conformation and early finishing assigned to calves at weaning. In the genetic analysis, variance components of BCS were estimated through Bayesian inference by fitting an animal model that also included the aforementioned effects. The results showed that BCS was significantly associated with all of the reproductive and maternal variables analysed. The estimated posterior mean of heritability of BCS was 0.24 (highest posterior density interval at 95%: 0.093 to 0.385), indicating an involvement of additive gene action in its determination. The present findings show that BCS can be used as a selection criterion for Nellore females.

The identical-twin transfusion syndrome: a source of error in estimating IQ resemblance and heritability.

Science.gov (United States)

Munsinger, H

1977-01-01

Published studies show that among identical twins, lower birthweight is associated with lower adult intelligence. However, no such relation between birthweight and adult IQ exists among fraternal twins. A likely explanation for the association between birthweight and intelligence among identical twins is the identical twin transfusion syndrome which occurs only between some monochorionic identical twin pairs. The IQ scores from separated identical twins were reanalysed to explore the consequences of identical twin transfusion syndrome for IQ resemblance and heritability. Among 129 published cases of identical twin pairs reared apart, 76 pairs contained some birthweight information. The 76 pairs were separated into three classes: 23 pairs in which there was clear evidence of a substantial birthweight differences (indicating the probable existence of the identical twin transfusion syndrome), 27 pairs in which the information on birthweight was ambiguous (?), and 26 pairs in which there was clear evidence that the twins were similar in birthweight. The reanalyses showed: (1) birthweight differences are positively associated with IQ differences in the total sample of separated identical twins; (2) within the group of 23 twin pairs who showed large birthweight differences, there was a positive relation between birthweight differences and IQ differences; (3) when heritability of IQ is estimated for those twins who do not suffer large birthweight differences, the resemblance (and thus, h2/b) of the separated identical twins' IG is 0-95. Given that the average reliability of the individual IQ test is around 0-95, these data suggest that genetic factors and errors of measurement cause the individual differences in IQ among human beings. Because of the identical twin transfusion syndrome, previous studies of MZ twins have underestimated the effect of genetic factors on IQ. An analysis of the IQs for heavier and lighter birthweight twins suggests that the main effect of the

A Franco-German unmanned countermine system demonstrator

Science.gov (United States)

Le Gusquet, F.; Neugebauer, K.; Gerard, F.; Marion, V.; Kaspari, A.; Hembise, D.

2005-05-01

In May 2003, the Federal Republic of Germany and the Republic of France awarded a contract to RHEINMETALL LANDSYSTEME GmbH, Germany), MBDA (France; THALES, France) for the joint development and manufacturing of a technology demonstrator for a vehicle-based close-in countermine system. The objective of this cooperation project, known as MMSR-SYDERA, is to show that, in a full-scale development program, it will be possible to fulfill the joint operational requirements issued by the German and French armies, which are based on the following missions: Fast route opening, Sensitive route opening and Area Clearing . In order to fulfill the three different missions and deal with an extensive array of mine threats, the MMSR-SYDERA countermine system combines two modes of countermine operation, i.e. triggering mines by decoying or detecting mines with sensors for low-order clearing. Thus, the plan calls for the MMSR-SYDERA system to be composed of five vehicles deployed in different configurations in a convoy on the roads to be cleared. This program takes advantage of the latest technologies to reach the objective performances: some innovative decoy tools already validated during real trials and optimized for MMSRSYDERA program, the latest ambitious technologies for detection and confirmation, and state-of-the-art remote-control capabilities, including tele-operation and semi-autonomous autofollow mode, with the highest established performances. An evaluation of the system demonstrator will be carried out at the beginning of 2007.

Heritability and GWAS Analyses of Acne in Australian Adolescent Twins.

Science.gov (United States)

Mina-Vargas, Angela; Colodro-Conde, Lucía; Grasby, Katrina; Zhu, Gu; Gordon, Scott; Medland, Sarah E; Martin, Nicholas G

2017-12-01

Acne vulgaris is a skin disease with a multifactorial and complex pathology. While several twin studies have estimated that acne has a heritability of up to 80%, the genomic elements responsible for the origin and pathology of acne are still undiscovered. Here we performed a twin-based structural equation model, using available data on acne severity for an Australian sample of 4,491 twins and their siblings aged from 10 to 24. This study extends by a factor of 3 an earlier analysis of the genetic factors of acne. Acne severity was rated by nurses on a 4-point scale (1 = absent to 4 = severe) on up to three body sites (face, back, chest) and on up to three occasions (age 12, 14, and 16). The phenotype that we analyzed was the most severe rating at any site or age. The polychoric correlation for monozygotic twins was higher (r MZ = 0.86, 95% CI [0.81, 0.90]) than for dizygotic twins (r DZ = 0.42, 95% CI [0.35, 0.47]). A model that includes additive genetic effects and unique environmental effects was the most parsimonious model to explain the genetic variance of acne severity, and the estimated heritability was 0.85 (95% CI [0.82, 0.87]). We then conducted a genome-wide analysis including an additional 271 siblings - for a total of 4,762 individuals. A genome-wide association study (GWAS) scan did not detect loci associated with the severity of acne at the threshold of 5E-08 but suggestive association was found for three SNPs: rs10515088 locus 5q13.1 (p = 3.9E-07), rs12738078 locus 1p35.5 (p = 6.7E-07), and rs117943429 locus 18q21.2 (p = 9.1E-07). The 5q13.1 locus is close to PIK3R1, a gene that has a potential regulatory effect on sebocyte differentiation.

Integrated monitoring and surveillance system demonstration project: Phase I accomplishments

International Nuclear Information System (INIS)

Aumeier, S.E.; Walters, B.G.; Crawford, D.C.

1997-01-01

The authors present the results of the Integrated Monitoring and Surveillance System (IMSS) demonstration project Phase I efforts. The rationale behind IMSS development is reviewed and progress in each of the 5 basic tasks is detailed. Significant results include decisions to use Echelon LonWorks networking protocol and Microsoft Access for the data system needs, a preliminary design for the plutonium canning system glovebox, identification of facilities and materials available for the demonstration, determination of possibly affected facility documentation, and a preliminary list of available sensor technologies. Recently imposed changes in the overall project schedule and scope are also discussed and budgetary requirements for competition of Phase II presented. The results show that the IMSS demonstration project team has met and in many cases exceeded the commitments made for Phase I deliverables

Feasibility and demonstration of a cloud-based RIID analysis system

Energy Technology Data Exchange (ETDEWEB)

Wright, Michael C., E-mail: wrightmc@ornl.gov [Oak Ridge National Laboratory, Oak Ridge, TN 37831 (United States); Hertz, Kristin L.; Johnson, William C. [Sandia National Laboratories, Livermore, CA 94551 (United States); Sword, Eric D.; Younkin, James R. [Oak Ridge National Laboratory, Oak Ridge, TN 37831 (United States); Sadler, Lorraine E. [Sandia National Laboratories, Livermore, CA 94551 (United States)

2015-06-01

A significant limitation in the operational utility of handheld and backpack radioisotope identifiers (RIIDs) is the inability of their onboard algorithms to accurately and reliably identify the isotopic sources of the measured gamma-ray energy spectrum. A possible solution is to move the spectral analysis computations to an external device, the cloud, where significantly greater capabilities are available. The implementation and demonstration of a prototype cloud-based RIID analysis system have shown this type of system to be feasible with currently available communication and computational technology. A system study has shown that the potential user community could derive significant benefits from an appropriately implemented cloud-based analysis system and has identified the design and operational characteristics required by the users and stakeholders for such a system. A general description of the hardware and software necessary to implement reliable cloud-based analysis, the value of the cloud expressed by the user community, and the aspects of the cloud implemented in the demonstrations are discussed. - Highlights: • A prototype cloud-based RIID analysis system was implemented and demonstrated. • A cloud-based system was shown to be feasible with currently available technology. • A system study identified the operational characteristics required by the users. • The system study showed that the user community could derive significant benefit. • An architecture was defined for field testing by users in relevant environments.

Feasibility and demonstration of a cloud-based RIID analysis system

International Nuclear Information System (INIS)

Wright, Michael C.; Hertz, Kristin L.; Johnson, William C.; Sword, Eric D.; Younkin, James R.; Sadler, Lorraine E.

2015-01-01

A significant limitation in the operational utility of handheld and backpack radioisotope identifiers (RIIDs) is the inability of their onboard algorithms to accurately and reliably identify the isotopic sources of the measured gamma-ray energy spectrum. A possible solution is to move the spectral analysis computations to an external device, the cloud, where significantly greater capabilities are available. The implementation and demonstration of a prototype cloud-based RIID analysis system have shown this type of system to be feasible with currently available communication and computational technology. A system study has shown that the potential user community could derive significant benefits from an appropriately implemented cloud-based analysis system and has identified the design and operational characteristics required by the users and stakeholders for such a system. A general description of the hardware and software necessary to implement reliable cloud-based analysis, the value of the cloud expressed by the user community, and the aspects of the cloud implemented in the demonstrations are discussed. - Highlights: • A prototype cloud-based RIID analysis system was implemented and demonstrated. • A cloud-based system was shown to be feasible with currently available technology. • A system study identified the operational characteristics required by the users. • The system study showed that the user community could derive significant benefit. • An architecture was defined for field testing by users in relevant environments

Heritability and Genetic Advance among Chili Pepper Genotypes for Heat Tolerance and Morphophysiological Characteristics

Directory of Open Access Journals (Sweden)

Magaji G. Usman

2014-01-01

Full Text Available High temperature tolerance is an important component of adaptation to arid and semiarid cropping environment in chili pepper. Two experiments were carried out to study the genetic variability among chili pepper for heat tolerance and morphophysiological traits and to estimate heritability and genetic advance expected from selection. There was a highly significant variation among the genotypes in response to high temperature (CMT, photosynthesis rate, plant height, disease incidence, fruit length, fruit weight, number of fruits, and yield per plant. At 5% selection intensity, high genetic advance as percent of the mean (>20% was observed for CMT, photosynthesis rate, fruit length, fruit weight, number of fruits, and yield per plant. Similarly, high heritability (>60% was also observed indicating the substantial effect of additive gene more than the environmental effect. Yield per plant showed strong to moderately positive correlations (r=0.23–0.56 at phenotypic level while at genotypic level correlation coefficient ranged from 0.16 to 0.72 for CMT, plant height, fruit length, and number of fruits. Cluster analysis revealed eight groups and Group VIII recorded the highest CMT and yield. Group IV recorded 13 genotypes while Groups II, VII, and VIII recorded one each. The results showed that the availability of genetic variance could be useful for exploitation through selection for further breeding purposes.

Estimation of the growth curve and heritability of the growth rate for giant panda (Ailuropoda melanoleuca) cubs.

Science.gov (United States)

Che, T D; Wang, C D; Jin, L; Wei, M; Wu, K; Zhang, Y H; Zhang, H M; Li, D S

2015-03-27

Giant panda cubs have a low survival rate during the newborn and early growth stages. However, the growth and developmental parameters of giant panda cubs during the early lactation stage (from birth to 6 months) are not well known. We examined the growth and development of giant panda cubs by the Chapman growth curve model and estimated the heritability of the maximum growth rate at the early lactation stage. We found that 83 giant panda cubs reached their maximum growth rate at approximately 75-120 days after birth. The body weight of cubs at 75 days was 4285.99 g. Furthermore, we estimated that the heritability of the maximum growth rate was moderate (h(2) = 0.38). Our study describes the growth and development of giant panda cubs at the early lactation stage and provides valuable growth benchmarks. We anticipate that our results will be a starting point for more detailed research on increasing the survival rate of giant panda cubs. Feeding programs for giant panda cubs need further improvement.

Indirect Genetic Effects and the Spread of Infectious Disease: Are We Capturing the Full Heritable Variation Underlying Disease Prevalence?

NARCIS (Netherlands)

Lipschutz-Powell, D.; Woolliams, J.A.; Bijma, P.; Doeschl-Wilson, A.B.

2012-01-01

Reducing disease prevalence through selection for host resistance offers a desirable alternative to chemical treatment. Selection for host resistance has proven difficult, however, due to low heritability estimates. These low estimates may be caused by a failure to capture all the relevant genetic

Prevalence and heritability of body dysmorphic symptoms in adolescents and young adults: a population-based nationwide twin study.

Science.gov (United States)

Enander, Jesper; Ivanov, Volen Z; Mataix-Cols, David; Kuja-Halkola, Ralf; Ljótsson, Brjánn; Lundström, Sebastian; Pérez-Vigil, Ana; Monzani, Benedetta; Lichtenstein, Paul; Rück, Christian

2018-02-28

Body dysmorphic disorder (BDD) usually begins during adolescence but little is known about the prevalence, etiology, and patterns of comorbidity in this age group. We investigated the prevalence of BDD symptoms in adolescents and young adults. We also report on the relative importance of genetic and environmental influences on BDD symptoms, and the risk for co-existing psychopathology. Prevalence of BDD symptoms was determined by a validated cut-off on the Dysmorphic Concerns Questionnaire (DCQ) in three population-based twin cohorts at ages 15 (n = 6968), 18 (n = 3738), and 20-28 (n = 4671). Heritability analysis was performed using univariate model-fitting for the DCQ. The risk for co-existing psychopathology was expressed as odds ratios (OR). The prevalence of clinically significant BDD symptoms was estimated to be between 1 and 2% in the different cohorts, with a significantly higher prevalence in females (1.3-3.3%) than in males (0.2-0.6%). The heritability of body dysmorphic concerns was estimated to be 49% (95% CI 38-54%) at age 15, 39% (95% CI 30-46) at age 18, and 37% (95% CI 29-42) at ages 20-28, with the remaining variance being due to non-shared environment. ORs for co-existing neuropsychiatric and alcohol-related problems ranged from 2.3 to 13.2. Clinically significant BDD symptoms are relatively common in adolescence and young adulthood, particularly in females. The low occurrence of BDD symptoms in adolescent boys may indicate sex differences in age of onset and/or etiological mechanisms. BDD symptoms are moderately heritable in young people and associated with an increased risk for co-existing neuropsychiatric and alcohol-related problems.

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

Science.gov (United States)

Benyamin, B; Pourcain, Bst; Davis, O S; Davies, G; Hansell, N K; Brion, M-J A; Kirkpatrick, R M; Cents, R A M; Franić, S; Miller, M B; Haworth, C M A; 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 V; Starr, 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

2014-02-01

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 and genetically stable throughout the life course. No robustly associated genetic loci or variants for childhood intelligence have been reported. Here, we report the first genome-wide association study (GWAS) on childhood intelligence (age range 6-18 years) from 17,989 individuals in six discovery and three replication samples. Although no individual single-nucleotide polymorphisms (SNPs) were detected with genome-wide significance, we show that the aggregate effects of common SNPs explain 22-46% of phenotypic variation in childhood intelligence in the three largest cohorts (P=3.9 × 10(-15), 0.014 and 0.028). FNBP1L, previously reported to be the most significantly associated gene for adult intelligence, was also significantly associated with childhood intelligence (P=0.003). Polygenic prediction analyses resulted in a significant correlation between predictor and outcome in all replication cohorts. The proportion of childhood intelligence explained by the predictor reached 1.2% (P=6 × 10(-5)), 3.5% (P=10(-3)) and 0.5% (P=6 × 10(-5)) in three independent validation cohorts. Given the sample sizes, these genetic prediction results are consistent with expectations if the genetic architecture of childhood intelligence is like that of body mass index or height. Our study provides molecular support for the heritability and polygenic nature of childhood intelligence. Larger sample sizes will be required to detect individual variants with genome-wide significance.

Heritability and clinical determinants of serum indoxyl sulfate and p-cresyl sulfate, candidate biomarkers of the human microbiome enterotype.

Directory of Open Access Journals (Sweden)

Liesbeth Viaene

Full Text Available BACKGROUND: Indoxyl sulfate and p-cresyl sulfate are unique microbial co-metabolites. Both co-metabolites have been involved in the pathogenesis of accelerated cardiovascular disease and renal disease progression. Available evidence suggests that indoxyl sulfate and p-cresyl sulfate may be considered candidate biomarkers of the human enterotype and may help to explain the link between diet and cardiovascular disease burden. OBJECTIVE AND DESIGN: Information on clinical determinants and heritability of indoxyl sulfate and p-cresyl sulfate serum is non-existing. To clarify this issue, the authors determined serum levels of indoxyl sulfate and p-cresyl sulfate in 773 individuals, recruited in the frame of the Flemish Study on Environment, Genes and Health Outcomes (FLEMENGHO study. RESULTS: Serum levels of indoxyl sulfate and p-cresyl sulfate amounted to 3.1 (2.4-4.3 and 13.0 (7.4-21.5 μM, respectively. Regression analysis identified renal function, age and sex as independent determinants of both co-metabolites. Both serum indoxyl sulfate (h2 = 0.17 and p-cresyl sulfate (h2 = 0.18 concentrations showed moderate but significant heritability after adjustment for covariables, with significant genetic and environmental correlations for both co-metabolites. LIMITATIONS: Family studies cannot provide conclusive evidence for a genetic contribution, as confounding by shared environmental effects can never be excluded. CONCLUSIONS: The heritability of indoxyl sulfate and p-cresyl sulfate is moderate. Besides genetic host factors and environmental factors, also renal function, sex and age influence the serum levels of these co-metabolites.

GLP-1 responses are heritable and blunted in acquired obesity with high liver fat and insulin resistance

DEFF Research Database (Denmark)

Matikainen, Niina; Bogl, Leonie H; Hakkarainen, Antti

2014-01-01

OBJECTIVE Impaired incretin response represents an early and uniform defect in type 2 diabetes, but the contributions of genes and the environment are poorly characterized. RESEARCH DESIGN AND METHODS We studied 35 monozygotic (MZ) and 75 dizygotic (DZ) twin pairs (discordant and concordant for o...... Whereas the GLP-1 response to the OGTT is heritable, an acquired unhealthy pattern of obesity characterized by liver fat accumulation and insulin resistance is closely related to impaired GLP-1 response in young adults....... under the curve was 67% (95% CI 45-80). Cotwins from weight-concordant MZ and DZ pairs and weight-discordant MZ pairs but concordant for liver fat content demonstrated similar glucose, insulin, and incretin profiles after the OGTT and meal tests. In contrast, higher insulin responses and blunted 60-min...... GLP-1 responses during the OGTT were observed in the heavier as compared with leaner MZ cotwins discordant for BMI, liver fat, and insulin sensitivity. Blunted GLP-1 response to OGTT was observed in heavier as compared with leaner DZ cotwins discordant for obesity and insulin sensitivity. CONCLUSIONS...

Genetic potential and heritability estimates of yield traits in F3 segregating populations of bread wheat

Directory of Open Access Journals (Sweden)

Soshma Jan

2015-06-01

Full Text Available An experiment comprising of 24 wheat genotypes was undertaken during 2011-12, at New Developmental Research Farm, The University of Agriculture Peshawar, to elucidate information on the nature and magnitude of genetic variability, index of transmissibility and assessing the level of genetic improvement of the quantitative characters. The experimental material comprising 19 F3 populations along with their 5 parents of bread wheat were evaluated in randomized complete block design (RCBD with three replications. Analysis of variance exhibited highly significant (P ≤ 0.01 differences among genotypes for all the traits studied. F3 population Ghaznavi-98 x Pirsabak-05 showed maximum mean value for 1000-grain weight (47.3 g and biological yield (11474.9 kg ha-1, whereas, maximum values for grain yield (4027.3 kg ha-1, and harvest index (48.1% were observed for Pirsabak-05 x AUP-4006. Moreover, maximum spike length (11 cm was recorded for cross combination Pirsabak-05 x Pirsabak-04 and Janbaz x Pirsabak-05, respectively. In addition, Pirsabak-04 showed maximum value for number of grains spike-1 (55.0. Genetic variances were of greater magnitude than environmental variances for all the traits except for spike length and 1000-grain weight. Heritability estimates were of higher magnitude ranged from 0.64 to 0.92 for harvest index, biological yield, grain yield, and grains spike-1. Moderate to low heritability (0.40-0.46 was observed for 1000-grain weight, and spike length, respectively. Genetic gain was for spike length (0.48 cm, grains spike-1 (8.57, 1000-grain weight (2.93 g, grain yield (639.87 kg ha-1, biological yield (1790.03 kg ha-1, and harvest index (5.32 %. From high values of heritability and genetic advance, it could be concluded that selection for traits like grains spike-1 suggested good selection criteria and could be effective for future breeding programs. DOI: http://dx.doi.org/10.3126/ije.v4i2.12630 International Journal of Environment

Human face recognition ability is specific and highly heritable.

Science.gov (United States)

Wilmer, Jeremy B; Germine, Laura; Chabris, Christopher F; Chatterjee, Garga; Williams, Mark; Loken, Eric; Nakayama, Ken; Duchaine, Bradley

2010-03-16

Compared with notable successes in the genetics of basic sensory transduction, progress on the genetics of higher level perception and cognition has been limited. We propose that investigating specific cognitive abilities with well-defined neural substrates, such as face recognition, may yield additional insights. In a twin study of face recognition, we found that the correlation of scores between monozygotic twins (0.70) was more than double the dizygotic twin correlation (0.29), evidence for a high genetic contribution to face recognition ability. Low correlations between face recognition scores and visual and verbal recognition scores indicate that both face recognition ability itself and its genetic basis are largely attributable to face-specific mechanisms. The present results therefore identify an unusual phenomenon: a highly specific cognitive ability that is highly heritable. Our results establish a clear genetic basis for face recognition, opening this intensively studied and socially advantageous cognitive trait to genetic investigation.

Integrated Monitoring and Surveillance System demonstration project. Phase 2 accomplishments

International Nuclear Information System (INIS)

Aumeier, S.E.; Walters, B.G.; Singleterry, R.C.

1997-01-01

The paper presents the results of the Integrated Monitoring and Surveillance System (IMSS) demonstration project Phase 2 efforts. the rationale behind IMSS development is reviewed and progress in each of the 5 basic tasks is detailed. Significant results include further development of the data acquisition system and procurement of necessary hardware/software, options and associated costs for plutonium canning systems and gloveboxes, initiation of facility modifications, determination of possibly affected facility documentation, results from sensor system trade study, and preliminary storage configuration designs. Resources invested during Phase 1 and Phase 2 are summarized and budgetary requirements for completion of Phase 3 presented. The results show that the IMSS demonstration project team has met and in many cases exceeded the commitments made for Phase 2 deliverables

Experimental demonstration of variable weight SAC-OCDMA system for QoS differentiation

Science.gov (United States)

Seyedzadeh, Saleh; Mahdiraji, Ghafour Amouzad; Sahbudin, Ratna Kalos Zakiah; Abas, Ahmad Fauzi; Anas, Siti Barirah Ahmad

2014-10-01

In this paper the experimental and simulation results of variable-weight spectral amplitude coding optical code division multiple access (VW-SAC-OCDMA) system is demonstrated. In the proposed system, three users with weights of 6, 4 and 2 each operating at data rate of 1.25 Gb/s represent video, data and voice services, respectively. Results show that for back-to-back system minimum average power of -20 dBm per chip is required to maintain the acceptable performance. Transmission up to 60 km of fiber is demonstrated. Using mathematical approximation the capacity of VW-SAC-OCDMA system is demonstrated.

Heritable IUGR and adult metabolic syndrome are reversible and associated with alterations in the metabolome following dietary supplementation of 1-carbon intermediates.

Science.gov (United States)

Seferovic, Maxim D; Goodspeed, Danielle M; Chu, Derrick M; Krannich, Laura A; Gonzalez-Rodriguez, Pablo J; Cox, James E; Aagaard, Kjersti M

2015-06-01

Metabolic syndrome (MetS), following intrauterine growth restriction (IUGR), is epigenetically heritable. Recently, we abrogated the F2 adult phenotype with essential nutrient supplementation (ENS) of intermediates along the 1-carbon pathway. With the use of the same grandparental uterine artery ligation model, we profiled the F2 serum metabolome at weaning [postnatal day (d)21; n = 76] and adulthood (d160; n = 12) to test if MetS is preceded by alterations in the metabolome. Indicative of developmentally programmed MetS, adult F2, formerly IUGR rats, were obese (621 vs. 461 g; P metabolome at weaning (randomForest analysis; class error metabolome accompany heritable IUGR, precede adult-onset MetS, and are partially amenable to dietary intervention. © FASEB.

Demonstrator of atmospheric reentry system with hyperbolic velocity—DASH

Science.gov (United States)

Morita, Yasuhiro; Kawaguchi, Jun'ichiro; Inatani, Yoshifumi; Abe, Takashi

2003-01-01

Among a wide variety of challenging projects planned for the coming decade is the MUSES-C mission designed by the ISAS of Japan. Despite huge amount of data collected by the previous interplanetary spacecraft and probes, the origin and evolution of the solar system still remains unveiled due to their limited information. Thus, our concern has been directed toward a sample return to carry sample from an asteroid back to the earth, which will contribute to better understanding of the system. One of the keys to success is considered the reentry technology with hyperbolic velocity, which has not been demonstrated yet. With this as background, the demonstrator of atmospheric reentry system with hyperbolic velocity, DASH, has been given a commitment to demonstrate the high-speed reentry technology, which will be launched in summer of next year by Japan's H-IIA rocket in a piggyback configuration. The spaceship, composed of a reentry capsule and its carrier, will be injected into a geostationary transfer orbit (GTO) and after several revolutions it will deorbit by burn of a solid propellant deorbit motor. The capsule, identical to that of the sample return mission, can experience the targeted level of thermal environment even from the GTO by tracing a specially designed reentry trajectory.

Variation, heritability and association of yield, fiber and morphological traits in a near long staple upland cotton population

International Nuclear Information System (INIS)

Shao, D.; Wang, T.; Zhang, H.; Zhu, J.; Tang, F.

2016-01-01

Development of near long staple (NLS) cotton germplasm represents a remarkable improvement in fiber properties of upland genotypes without compromising yield potential. This study aimed to evaluate a NLS population for variability in yield, fiber and morphological traits, investigate heritability and genetic advance of these traits, and analyze the interrelationships among them. The NLS lines exhibited large variation for lint yield per hectare and bolls per plant, while little variation for fiber properties. The highest genotypic (GCV) and phenotypic (PCV) coefficient of variation were recorded by lint yield per hectare (25.10%, 23.00%) followed by bolls per plant (18.88%, 16.38%). High heritability along with high response to selection was documented in plant height, bolls per plant and lint yield per hectare indicating that the additive gene function model in the inheritance of these traits and direct selection can be profitably applied on them. Favourable associations were found among fiber length, strength and fineness in this population. It is concluded that there is a great potential in the NSL population for further enhancing yield while maintaining high fiber quality. (author)

Analog Readout and Digitizing System for ATLAS TileCal Demonstrator

CERN Document Server

Tang, F; The ATLAS collaboration

2014-01-01

The TileCal Demonstrator is a prototype for a future upgrade to the ATLAS hadron calorimeter when the Large Hadron Collider increases luminosity in year 2023 (HL-LHC). It will be used for functionality and performance tests. The Demonstrator has 48 channels of upgraded readout and digitizing electronics and a new digital trigger capability, but is backwards-compatible with the present detector system insofar as it also provides analog trigger signals. The Demonstrator is comprised of 4 identical mechanical mini-drawers, each equipped with up to 12 photomultipliers (PMTs). The on-detector electronics includes 45 Front-End Boards, each serving an individual PMT; 4 Main Boards, each to control and digitize up to 12 PMT signals, and 4 corresponding high-speed Daughter Boards serving as data hubs between on-detector and off-detector electronics. The Demonstrator is fully compatible with the present system, accepting ATLAS triggers, timing and slow control commands for the data acquisition, detector control, and de...

Experimental tests for heritable morphological color plasticity in non-native brown trout (Salmo trutta populations.

Directory of Open Access Journals (Sweden)

Peter A H Westley

Full Text Available The success of invasive species is frequently attributed to phenotypic plasticity, which facilitates persistence in novel environments. Here we report on experimental tests to determine whether the intensity of cryptic coloration patterns in a global invader (brown trout, Salmo trutta was primarily the result of plasticity or heritable variation. Juvenile F1 offspring were created through experimental crosses of wild-caught parents and reared for 30 days in the laboratory in a split-brood design on either light or dark-colored gravel substrate. Skin and fin coloration quantified with digital photography and image analysis indicated strong plastic effects in response to substrate color; individuals reared on dark substrate had both darker melanin-based skin color and carotenoid-based fin colors than other members of their population reared on light substrate. Slopes of skin and fin color reaction norms were parallel between environments, which is not consistent with heritable population-level plasticity to substrate color. Similarly, we observed weak differences in population-level color within an environment, again suggesting little genetic control on the intensity of skin and fin colors. Taken as whole, our results are consistent with the hypothesis that phenotypic plasticity may have facilitated the success of brown trout invasions and suggests that plasticity is the most likely explanation for the variation in color intensity observed among these populations in nature.

Transportable vitrification system demonstration on mixed waste. Revision 1

Energy Technology Data Exchange (ETDEWEB)

Zamecnik, J.R.; Whitehouse, J.C. [Westinghouse Savannah River Co., Aiken, SC (United States); Wilson, C.N. [Lockheed Martin Hanford Corp., Richland, WA (United States); Van Ryn, F.R. [Bechtel Jacobs Co., Oak Ridge, TN (United States)

1998-04-22

The Transportable Vitrification System (TVS) is a large scale, fully integrated, vitrification system for the treatment of low-level and mixed wastes in the form of sludges, soils, incinerator ash, and many other waste streams. It was demonstrated on surrogate waste at Clemson University and at the Oak Ridge Reservation (ORR) prior to treating actual mixed waste. Treatment of a combination of dried B and C Pond sludge and CNF sludge was successfully demonstrated at ORR in 1997. The demonstration produced 7,616 kg of glass from 7,328 kg of mixed wastes with a 60% reduction in volume. Glass formulations for the wastes treated were developed using a combination of laboratory crucible studies with the actual wastes and small melter studies at Clemson with both surrogate and actual wastes. Initial characterization of the B and C Pond sludge had not shown the presence of carbon or fluoride, which required a modified glass formulation be developed to maintain proper glass redox and viscosity. The CNF sludge challenges the glass formulations due to high levels of phosphate and iron. The demonstration was delayed several times by permitting problems, a glass leak, and electrical problems. The demonstration showed that the two wastes could be successfully vitrified, although the design glass production rate was not achieved. The glass produced met the Universal Treatment Standards and the emissions from the TVS were well within the allowable permit limits.

Transportable vitrification system demonstration on mixed waste. Revision 1

International Nuclear Information System (INIS)

Zamecnik, J.R.; Whitehouse, J.C.; Wilson, C.N.; Van Ryn, F.R.

1998-01-01

The Transportable Vitrification System (TVS) is a large scale, fully integrated, vitrification system for the treatment of low-level and mixed wastes in the form of sludges, soils, incinerator ash, and many other waste streams. It was demonstrated on surrogate waste at Clemson University and at the Oak Ridge Reservation (ORR) prior to treating actual mixed waste. Treatment of a combination of dried B and C Pond sludge and CNF sludge was successfully demonstrated at ORR in 1997. The demonstration produced 7,616 kg of glass from 7,328 kg of mixed wastes with a 60% reduction in volume. Glass formulations for the wastes treated were developed using a combination of laboratory crucible studies with the actual wastes and small melter studies at Clemson with both surrogate and actual wastes. Initial characterization of the B and C Pond sludge had not shown the presence of carbon or fluoride, which required a modified glass formulation be developed to maintain proper glass redox and viscosity. The CNF sludge challenges the glass formulations due to high levels of phosphate and iron. The demonstration was delayed several times by permitting problems, a glass leak, and electrical problems. The demonstration showed that the two wastes could be successfully vitrified, although the design glass production rate was not achieved. The glass produced met the Universal Treatment Standards and the emissions from the TVS were well within the allowable permit limits

Reliability demonstration test for load-sharing systems with exponential and Weibull components.

Directory of Open Access Journals (Sweden)

Jianyu Xu

Full Text Available Conducting a Reliability Demonstration Test (RDT is a crucial step in production. Products are tested under certain schemes to demonstrate whether their reliability indices reach pre-specified thresholds. Test schemes for RDT have been studied in different situations, e.g., lifetime testing, degradation testing and accelerated testing. Systems designed with several structures are also investigated in many RDT plans. Despite the availability of a range of test plans for different systems, RDT planning for load-sharing systems hasn't yet received the attention it deserves. In this paper, we propose a demonstration method for two specific types of load-sharing systems with components subject to two distributions: exponential and Weibull. Based on the assumptions and interpretations made in several previous works on such load-sharing systems, we set the mean time to failure (MTTF of the total system as the demonstration target. We represent the MTTF as a summation of mean time between successive component failures. Next, we introduce generalized test statistics for both the underlying distributions. Finally, RDT plans for the two types of systems are established on the basis of these test statistics.

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

Heritable strategies for controlling insect vectors of disease.

Science.gov (United States)

Burt, Austin

2014-01-01

Mosquito-borne diseases are causing a substantial burden of mortality, morbidity and economic loss in many parts of the world, despite current control efforts, and new complementary approaches to controlling these diseases are needed. One promising class of new interventions under development involves the heritable modification of the mosquito by insertion of novel genes into the nucleus or of Wolbachia endosymbionts into the cytoplasm. Once released into a target population, these modifications can act to reduce one or more components of the mosquito population's vectorial capacity (e.g. the number of female mosquitoes, their longevity or their ability to support development and transmission of the pathogen). Some of the modifications under development are designed to be self-limiting, in that they will tend to disappear over time in the absence of recurrent releases (and hence are similar to the sterile insect technique, SIT), whereas other modifications are designed to be self-sustaining, spreading through populations even after releases stop (and hence are similar to traditional biological control). Several successful field trials have now been performed with Aedes mosquitoes, and such trials are helping to define the appropriate developmental pathway for this new class of intervention.

Heritability of the severity of diabetic retinopathy: the FIND-Eye study.

Science.gov (United States)

Arar, Nedal H; Freedman, Barry I; Adler, Sharon G; Iyengar, Sudha K; Chew, Emily Y; Davis, Mathew D; Satko, Scott G; Bowden, Donald W; Duggirala, Ravi; Elston, Robert C; Guo, Xiuxing; Hanson, Robert L; Igo, Robert P; Ipp, Eli; Kimmel, Paul L; Knowler, William C; Molineros, Julio; Nelson, Robert G; Pahl, Madeleine V; Quade, Shannon R E; Rasooly, Rebekah S; Rotter, Jerome I; Saad, Mohammed F; Scavini, Marina; Schelling, Jeffrey R; Sedor, John R; Shah, Vallabh O; Zager, Philip G; Abboud, Hanna E

2008-09-01

Diabetic retinopathy (DR) and diabetic nephropathy (DN) are serious microvascular complications of diabetes mellitus. Correlations between severity of DR and DN and computed heritability estimates for DR were determined in a large, multiethnic sample of diabetic families. The hypothesis was that (1) the severity of DR correlates with the presence and severity of nephropathy in individuals with diabetes mellitus, and (2) the severity of DR is under significant familial influence in members of multiplex diabetic families. The Family Investigation of Nephropathy and Diabetes (FIND) was designed to evaluate the genetic basis of DN in American Indians, European Americans, African Americans, and Mexican Americans. FIND enrolled probands with advanced DN, along with their diabetic siblings who were concordant and discordant for nephropathy. These diabetic family members were invited to participate in the FIND-Eye study to determine whether inherited factors underlie susceptibility to DR and its severity. FIND-Eye participants underwent eye examinations and had fundus photographs taken. The severity of DR was graded by using the Early Treatment Diabetic Retinopathy Study Classification (ETDRS). Sib-sib correlations were calculated with the SAGE 5.0 program FCOR, to estimate heritability of retinopathy severity. This report summarizes the results for the first 2368 diabetic subjects from 767 families enrolled in FIND-Eye; nearly 50% were Mexican American, the largest single ethnicity within FIND. The overall prevalence of DR was high; 33.4% had proliferative DR; 7.5%, 22.8%, and 9.5% had severe, moderate, and mild nonproliferative DR, respectively; 26.6% had no DR. The severity of DR was significantly associated with severity of DN, both by phenotypic category and by increasing serum creatinine concentration (chi(2) = 658.14, df = 20; P FIND-Eye sample. These data confirm that the severity of DR parallels the presence and severity of nephropathy in individuals with diabetes

Demonstration test of 'multi-purpose incinerating melter system'

International Nuclear Information System (INIS)

Miyazaki, Hitoshi; Tanimoto, Kenichi; Wakui, Hitoshi; Oasada, Kaoru; Ishikawa, Fuyuhiko.

1994-01-01

A Multi-Purpose Incinerating Melter System (MIMS) has been developed as a volume reduction technique for a wide variety of radwastes including flame retardants such as spent resin, and non-combustible materials such as concrete, glass and steel. In the MIMS, these wastes are incinerated and/or melted at temperatures between 1,000 and 1,500degC generated by fossil fueled burner to produce obsidian-like ingots with high integrity. A demonstration test program was carried out from 1989 until 1991 using an engineering-scale demonstration unit. In the test program, various simulated wastes with traces of 60 Co, 54 Mn, 59 Fe, 137 Cs, 22 Na and 106 Ru were treated to obtain decontamination factor (DF) data and leach-resistance data of the products. The summarized results drawn from the 13 runs of demonstrative operations are the following: (1) Most involatile radionuclides are transferred into solidified products. (2) Global DF of the system excluding a HEPA filter ranged 1x10 4 thru 1x10 5 for 60 Co, 2x10 2 thru 2x10 3 for 137 Cs and 2x10 2 thru 1x10 4 for 106 Ru. (3) Leaching resistance of the solidified product is a match for that of a typical borosilicate glass waste form. (author)

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....

Feasibility and demonstration of a cloud-based RIID analysis system

Science.gov (United States)

Wright, Michael C.; Hertz, Kristin L.; Johnson, William C.; Sword, Eric D.; Younkin, James R.; Sadler, Lorraine E.

2015-06-01

A significant limitation in the operational utility of handheld and backpack radioisotope identifiers (RIIDs) is the inability of their onboard algorithms to accurately and reliably identify the isotopic sources of the measured gamma-ray energy spectrum. A possible solution is to move the spectral analysis computations to an external device, the cloud, where significantly greater capabilities are available. The implementation and demonstration of a prototype cloud-based RIID analysis system have shown this type of system to be feasible with currently available communication and computational technology. A system study has shown that the potential user community could derive significant benefits from an appropriately implemented cloud-based analysis system and has identified the design and operational characteristics required by the users and stakeholders for such a system. A general description of the hardware and software necessary to implement reliable cloud-based analysis, the value of the cloud expressed by the user community, and the aspects of the cloud implemented in the demonstrations are discussed.

Demonstration of a transportable storage system for spent nuclear fuel

International Nuclear Information System (INIS)

Shetler, J.R.; Miller, K.R.; Jones, R.E.

1993-01-01

The purpose of this paper is to discuss the joint demonstration project between the Sacramento Municipal Utility District (SMUD) and the US Department of Energy (DOE) regarding the use of a transportable storage system for the long-term storage and subsequent transport of spent nuclear fuel. SMUD's Rancho Seco nuclear generating station was shut down permanently in June 1989. After the shutdown, SMUD began planning the decommissioning process, including the disposition of the spent nuclear fuel. Concurrently, Congress had directed the Secretary of Energy to develop a plan for the use of dual-purpose casks. Licensing and demonstrating a dual-purpose cask, or transportable storage system, would be a step toward achieving Congress's goal of demonstrating a technology that can be used to minimize the handling of spent nuclear fuel from the time the fuel is permanently removed from the reactor through to its ultimate disposal at a DOE facility. For SMUD, using a transportable storage system at the Rancho Seco Independent Spent-Fuel Storage Installation supports the goal of abandoning Rancho Seco's spent-fuel pool as decommissioning proceeds

Demonstration of a free piston Stirling engine driven linear alternator system. Annual report

International Nuclear Information System (INIS)

1978-01-01

The objective of the program is to develop a 2 kW Free Piston Stirling Engine/Linear Alternator Energy Conversion System for an isotopic heat source with a greater than 30% overall efficiency. The work was broken up into two phases. Phase I demonstrated the feasibility of the energy conversion system through analysis and experimental testing of the individual components. Phase II is a two-year effort to design, fabricate, and test a prototype demonstrator energy conversion system. The reprt documents the work performed during October 1976 through September 1977, the first year of Phase II. Details of the tasks are presented in five major sections: (1) Linear Alternator Development; (2) Engine/Alternator System Demonstration; (3) Demonstrator Preliminary Design; (4) Demonstrator Detailed Design; and (5) Development of Free Piston Stirling Engine Computer Simulation

Grain Yield, Its Components, Genetic Diversity and Heritability in Chickpea (Cicer arietinum L.

Directory of Open Access Journals (Sweden)

M. Kakaei

2015-09-01

Full Text Available The current research was carried out to investigate grain yield and components and their genetic diversity and heritability of some important agronomic traits, in 19 chickpea genotypes, based on a randomized complete block design with 3 replications in Research Field of Bu-Ali Sina University, Hamadan, Iran in 2011-2012 growing seasons. The ANOVA results showed that, there were highly significant differences (p < 0.01 among genotypes for the SPAD number, number of sub-branch per plant, pod number per plant, 100-kernel weight, grain yield, biological yield, and harvest index. The mean comparisons results indicated that the genotypes 14, 12, 4 and 19 (with 234.7, 240, 250.3 and 259.4 kilogram of grain yield per ha, respectively and the genotypes 18, 8, 15, and 6 (with 151.01, 167.6, 167.8 and 189 kilogram of grain yield per ha, respectively had the maximum and minimum economic yield, respectively. According to phonotypical correlation results, there were positive and significant (p < 0.01 correlations between grain yield and pod number per plant (0.623**, plant height (0.432**, harvest index (0.425** and biomass (0.349**. Step-wise regression indicated that the pod number per plant, harvest index, biomass, number of sub-branch per plant, and plant height were the most effective traits on economic yield and they explained 84.68 percent of the variation in economic yield. Furthermore, harvest index and seed number per plant had the maximum and minimum heritability, respectively, indicating that they could be hired as sources of variation for improving the grain yield and selecting superior genotypes.

Establishment and implementation of performance demonstration system for ultrasonic examination in Korea

International Nuclear Information System (INIS)

Kim, Yong-sik

2007-01-01

Korea Electric Power Research Institute (KEPRI) and Korea Hydro and Nuclear Power Company (KHNP) developed Korean Performance Demonstration (KPD) system for ultrasonic examination applicable to pressurized light-water reactor and pressurized heavy-water reactor power plants in accordance with ASME Sec. XI App. VIII. In order to develop the KPD system following works were completed. 1) Surveying the welds on piping of all nuclear power plants in Korea, 2) Surveying the bolting configuration of all nuclear power plant in Korea, 3) Determining the number and type of test specimens, 4)Designing the test and the practice specimens, 5) Developing quality assurance procedures for the fabrication of test specimens and system management, 6) Developing generic procedures for manual ultrasonic test, 7) Fabrication and fingerprint of test specimen. After establishing the KPD system, round robin tests were conducted to evaluate the accuracy and reliability of examination results by comparing traditional ASME code and performance demonstration method. KEPRI/KHNP had successfully developed the KPD system to fulfill the performance demonstration requirements of ASME Sec. XI, Appendix VIII, and are executing the performance demonstration test for ultrasonic examination system. (author)

Personality in the Age of Industry: Structure, Heritability, and Correlates of Personality in Middle Childhood from the Perspective of Parents, Teachers, and Children.

Science.gov (United States)

Clark, D Angus; Durbin, C Emily; Hicks, Brian M; Iacono, William G; McGue, Matt

2017-04-01

Middle childhood is a crucial juncture in the lifespan where children work towards achieving a sense of competence foundational for future development. However, middle childhood has historically been underrepresented in the personality literature. The current study provides a comprehensive examination of personality in middle childhood using a large (N = 2510), longitudinal sample of 10- to 12-year-old twins. The structure, heritability, and correlates of personality in this period were investigated using personality ratings of parents, teachers, and children. Results showed that personality in middle childhood has a coherent structure, is heritable, and is relevant for developmentally salient outcomes such as externalizing behavior, substance use, and academic engagement. Results emphasize the importance of investigating personality in middle childhood across multiple informants.

Personality in the Age of Industry: Structure, Heritability, and Correlates of Personality in Middle Childhood from the Perspective of Parents, Teachers, and Children

Science.gov (United States)

Clark, D. Angus; Durbin, C. Emily; Hicks, Brian M.; Iacono, William G.; McGue, Matt

2016-01-01

Middle childhood is a crucial juncture in the lifespan where children work towards achieving a sense of competence foundational for future development. However, middle childhood has historically been underrepresented in the personality literature. The current study provides a comprehensive examination of personality in middle childhood using a large (N = 2510), longitudinal sample of 10- to 12-year-old twins. The structure, heritability, and correlates of personality in this period were investigated using personality ratings of parents, teachers, and children. Results showed that personality in middle childhood has a coherent structure, is heritable, and is relevant for developmentally salient outcomes such as externalizing behavior, substance use, and academic engagement. Results emphasize the importance of investigating personality in middle childhood across multiple informants. PMID:28408770

Solar Power System Options for the Radiation and Technology Demonstration Spacecraft

Science.gov (United States)

Kerslake, Thomas W.; Haraburda, Francis M.; Riehl, John P.

2000-01-01

The Radiation and Technology Demonstration (RTD) Mission has the primary objective of demonstrating high-power (10 kilowatts) electric thruster technologies in Earth orbit. This paper discusses the conceptual design of the RTD spacecraft photovoltaic (PV) power system and mission performance analyses. These power system studies assessed multiple options for PV arrays, battery technologies and bus voltage levels. To quantify performance attributes of these power system options, a dedicated Fortran code was developed to predict power system performance and estimate system mass. The low-thrust mission trajectory was analyzed and important Earth orbital environments were modeled. Baseline power system design options are recommended on the basis of performance, mass and risk/complexity. Important findings from parametric studies are discussed and the resulting impacts to the spacecraft design and cost.

Estimating System-wide Impacts of Smart Grid Demonstrations

Energy Technology Data Exchange (ETDEWEB)

Schneider, Kevin P.; Lightner, Eric M.; Fuller, Jason C.

2015-03-01

Quantifying the impact of a new technology on a single specific distribution feeder is relatively easy, but it does not provide insight into the complexities and variations of a system-wide deployment. It is the inability to extrapolate system-wide impacts that hinders the deployment of many promising new technologies. This paper presents a method of extrapolating technology impacts, either simulated or from a field demonstration, from a limited number of distribution feeders to a system-wide impact. The size of the system can vary from the service territory of a single utility, to a region, or to an entire country. The paper will include an example analysis using the United States Department of Energy (DOE) funded Smart Grid Investment Grant (SGIG) projects, extrapolating their benefits to a national level.

Proposal for Construction/Demonstration/Implementation of A Material Handling System

International Nuclear Information System (INIS)

Jim Jnatt

2001-01-01

Vortec Corporation, the United States Enrichment Corporation (USEC) and DOE/Paducah propose to complete the technology demonstration and the implementation of the Material Handling System developed under Contract Number DE-AC21-92MC29120. The demonstration testing and operational implementation will be done at the Paducah Gaseous Diffusion Plant. The scope of work, schedule and cost for the activities are included in this proposal. A description of the facility to be constructed and tested is provided in Exhibit 1, attached. The USEC proposal for implementation at Paducah is presented in Exhibit 2, and the commitment letters from the site are included in Exhibit 3. Under our agreements with USEC, Bechtel Jacobs Corporation and DOE/Paducah, Vortec will be responsible for the construction of the demonstration facility as documented in the engineering design package submitted under Phase 4 of this contract on August 9, 2001. USEC will have responsibility for the demonstration testing and commercial implementation of the plant. The demonstration testing and initial commercial implementation of the technology will be achieved by means of a USEC work authorization task with the Bechtel Jacobs Corporation. The initial processing activities will include the processing of approximately 4,250 drums of LLW. Subsequent processing of LLW and TSCA/LLW will be done under a separate contract or work authorization task. To meet the schedule for commercial implementation, it is important that the execution of the Phase 4 project option for construction of the demonstration system be executed as soon as possible. The schedule we have presented herein assumes initiation of the construction phase by the end of September 2001. Vortec proposes to complete construction of the demonstration test system for an estimated cost of $3,254,422. This price is based on the design submitted to DOE/NETL under the Phase 4 engineering design deliverable (9 august 2001). The cost is subject to the

Demonstration test of 'multi-purpose incinerating melter system'

Energy Technology Data Exchange (ETDEWEB)

Miyazaki, Hitoshi; Tanimoto, Kenichi [Power Reactor and Nuclear Fuel Development Corp., Oarai, Ibaraki (Japan). Oarai Engineering Center; Wakui, Hitoshi; Oasada, Kaoru; Ishikawa, Fuyuhiko

1994-03-01

A Multi-Purpose Incinerating Melter System (MIMS) has been developed as a volume reduction technique for a wide variety of radwastes including flame retardants such as spent resin, and non-combustible materials such as concrete, glass and steel. In the MIMS, these wastes are incinerated and/or melted at temperatures between 1,000 and 1,500degC generated by fossil fueled burner to produce obsidian-like ingots with high integrity. A demonstration test program was carried out from 1989 until 1991 using an engineering-scale demonstration unit. In the test program, various simulated wastes with traces of [sup 60]Co, [sup 54]Mn, [sup 59]Fe, [sup 137]Cs, [sup 22]Na and [sup 106]Ru were treated to obtain decontamination factor (DF) data and leach-resistance data of the products. The summarized results drawn from the 13 runs of demonstrative operations are the following: (1) Most involatile radionuclides are transferred into solidified products. (2) Global DF of the system excluding a HEPA filter ranged 1x10[sup 4] thru 1x10[sup 5] for [sup 60]Co, 2x10[sup 2] thru 2x10[sup 3] for [sup 137]Cs and 2x10[sup 2] thru 1x10[sup 4] for [sup 106]Ru. (3) Leaching resistance of the solidified product is a match for that of a typical borosilicate glass waste form. (author).

NASA Systems Autonomy Demonstration Project - Development of Space Station automation technology

Science.gov (United States)

Bull, John S.; Brown, Richard; Friedland, Peter; Wong, Carla M.; Bates, William

1987-01-01

A 1984 Congressional expansion of the 1958 National Aeronautics and Space Act mandated that NASA conduct programs, as part of the Space Station program, which will yield the U.S. material benefits, particularly in the areas of advanced automation and robotics systems. Demonstration programs are scheduled for automated systems such as the thermal control, expert system coordination of Station subsystems, and automation of multiple subsystems. The programs focus the R&D efforts and provide a gateway for transfer of technology to industry. The NASA Office of Aeronautics and Space Technology is responsible for directing, funding and evaluating the Systems Autonomy Demonstration Project, which will include simulated interactions between novice personnel and astronauts and several automated, expert subsystems to explore the effectiveness of the man-machine interface being developed. Features and progress on the TEXSYS prototype thermal control system expert system are outlined.

EEG spectral phenotypes: heritability and association with marijuana and alcohol dependence in an American Indian community study

OpenAIRE

Ehlers, Cindy L.; Phillips, Evelyn; Gizer, Ian R.; Gilder, David A.; Wilhelmsen, Kirk C.

2009-01-01

Native Americans have some of the highest rates of marijuana and alcohol use and abuse, yet neurobiological measures associated with dependence on these substances in this population remain unknown. The present investigation evaluated the heritability of spectral characteristics of the electroencephalogram (EEG) and their correlation with marijuana and alcohol dependence in an American Indian community. Participants (n=626) were evaluated for marijuana (MJ) and alcohol (ALC) dependence, as we...

Analysis of morphological variability and heritability in the head of the Argentine Black and White Tegu (Salvator merianae): undisturbed vs. disturbed environments.

Science.gov (United States)

Imhoff, Carolina; Giri, Federico; Siroski, Pablo; Amavet, Patricia

2018-04-01

The heterogeneity of biotic and abiotic factors influencing fitness produce selective pressures that promote local adaptation and divergence among different populations of the same species. In order for adaptations to be maintained through evolutionary time, heritable genetic variation controlling the expression of the morphological features under selection is necessary. Here we compare morphological shape variability and size of the cephalic region of Salvator merianae specimens from undisturbed environments to those of individuals from disturbed environments, and estimated heritability for shape and size using geometric morphometric and quantitative genetics tools. The results of these analyzes indicated that there are statistically significant differences in shape and size between populations from the two environments. Possibly, one of the main determinants of cephalic shape and size is adaptation to the characteristics of the environment and to the trophic niche. Individuals from disturbed environments have a cephalic region with less shape variation and also have a larger centroid size when compared to individuals from undisturbed environments. The high heritability values obtained for shape and size in dorsal view and right side view indicate that these phenotypic characters have a great capacity to respond to the selection pressures to which they are subjected. Data obtained here could be used as an important tool when establishing guidelines for plans for the sustainable use and conservation of S. merianae and other species living in disturbed areas. Copyright © 2018 Elsevier GmbH. All rights reserved.

Analysis of shared heritability in common disorders of the brain.

Science.gov (United States)

Anttila, Verneri; Bulik-Sullivan, Brendan; Finucane, Hilary K; Walters, Raymond K; Bras, Jose; Duncan, Laramie; Escott-Price, Valentina; Falcone, Guido J; Gormley, Padhraig; Malik, Rainer; Patsopoulos, Nikolaos A; Ripke, Stephan; Wei, Zhi; Yu, Dongmei; Lee, Phil H; Turley, Patrick; Grenier-Boley, Benjamin; Chouraki, Vincent; Kamatani, Yoichiro; Berr, Claudine; Letenneur, Luc; Hannequin, Didier; Amouyel, Philippe; Boland, Anne; Deleuze, Jean-François; Duron, Emmanuelle; Vardarajan, Badri N; Reitz, Christiane; Goate, Alison M; Huentelman, Matthew J; Kamboh, M Ilyas; Larson, Eric B; Rogaeva, Ekaterina; St George-Hyslop, Peter; Hakonarson, Hakon; Kukull, Walter A; Farrer, Lindsay A; Barnes, Lisa L; Beach, Thomas G; Demirci, F Yesim; Head, Elizabeth; Hulette, Christine M; Jicha, Gregory A; Kauwe, John S K; Kaye, Jeffrey A; Leverenz, James B; Levey, Allan I; Lieberman, Andrew P; Pankratz, Vernon S; Poon, Wayne W; Quinn, Joseph F; Saykin, Andrew J; Schneider, Lon S; Smith, Amanda G; Sonnen, Joshua A; Stern, Robert A; Van Deerlin, Vivianna M; Van Eldik, Linda J; Harold, Denise; Russo, Giancarlo; Rubinsztein, David C; Bayer, Anthony; Tsolaki, Magda; Proitsi, Petra; Fox, Nick C; Hampel, Harald; Owen, Michael J; Mead, Simon; Passmore, Peter; Morgan, Kevin; Nöthen, Markus M; Rossor, Martin; Lupton, Michelle K; Hoffmann, Per; Kornhuber, Johannes; Lawlor, Brian; McQuillin, Andrew; Al-Chalabi, Ammar; Bis, Joshua C; Ruiz, Agustin; Boada, Mercè; Seshadri, Sudha; Beiser, Alexa; Rice, Kenneth; van der Lee, Sven J; De Jager, Philip L; Geschwind, Daniel H; Riemenschneider, Matthias; Riedel-Heller, Steffi; Rotter, Jerome I; Ransmayr, Gerhard; Hyman, Bradley T; Cruchaga, Carlos; Alegret, Montserrat; Winsvold, Bendik; Palta, Priit; Farh, Kai-How; Cuenca-Leon, Ester; Furlotte, Nicholas; Kurth, Tobias; Ligthart, Lannie; Terwindt, Gisela M; Freilinger, Tobias; Ran, Caroline; Gordon, Scott D; Borck, Guntram; Adams, Hieab H H; Lehtimäki, Terho; Wedenoja, Juho; Buring, Julie E; Schürks, Markus; Hrafnsdottir, Maria; Hottenga, Jouke-Jan; Penninx, Brenda; Artto, Ville; Kaunisto, Mari; Vepsäläinen, Salli; Martin, Nicholas G; Montgomery, Grant W; Kurki, Mitja I; Hämäläinen, Eija; Huang, Hailiang; Huang, Jie; Sandor, Cynthia; Webber, Caleb; Muller-Myhsok, Bertram; Schreiber, Stefan; Salomaa, Veikko; Loehrer, Elizabeth; Göbel, Hartmut; Macaya, Alfons; Pozo-Rosich, Patricia; Hansen, Thomas; Werge, Thomas; Kaprio, Jaakko; Metspalu, Andres; Kubisch, Christian; Ferrari, Michel D; Belin, Andrea C; van den Maagdenberg, Arn M J M; Zwart, John-Anker; Boomsma, Dorret; Eriksson, Nicholas; Olesen, Jes; Chasman, Daniel I; Nyholt, Dale R; Avbersek, Andreja; Baum, Larry; Berkovic, Samuel; Bradfield, Jonathan; Buono, Russell; Catarino, Claudia B; Cossette, Patrick; De Jonghe, Peter; Depondt, Chantal; Dlugos, Dennis; Ferraro, Thomas N; French, Jacqueline; Hjalgrim, Helle; Jamnadas-Khoda, Jennifer; Kälviäinen, Reetta; Kunz, Wolfram S; Lerche, Holger; Leu, Costin; Lindhout, Dick; Lo, Warren; Lowenstein, Daniel; McCormack, Mark; Møller, Rikke S; Molloy, Anne; Ng, Ping-Wing; Oliver, Karen; Privitera, Michael; Radtke, Rodney; Ruppert, Ann-Kathrin; Sander, Thomas; Schachter, Steven; Schankin, Christoph; Scheffer, Ingrid; Schoch, Susanne; Sisodiya, Sanjay M; Smith, Philip; Sperling, Michael; Striano, Pasquale; Surges, Rainer; Thomas, G Neil; Visscher, Frank; Whelan, Christopher D; Zara, Federico; Heinzen, Erin L; Marson, Anthony; Becker, Felicitas; Stroink, Hans; Zimprich, Fritz; Gasser, Thomas; Gibbs, Raphael; Heutink, Peter; Martinez, Maria; Morris, Huw R; Sharma, Manu; Ryten, Mina; Mok, Kin Y; Pulit, Sara; Bevan, Steve; Holliday, Elizabeth; Attia, John; Battey, Thomas; Boncoraglio, Giorgio; Thijs, Vincent; Chen, Wei-Min; Mitchell, Braxton; Rothwell, Peter; Sharma, Pankaj; Sudlow, Cathie; Vicente, Astrid; Markus, Hugh; Kourkoulis, Christina; Pera, Joana; Raffeld, Miriam; Silliman, Scott; Boraska Perica, Vesna; Thornton, Laura M; Huckins, Laura M; William Rayner, N; Lewis, Cathryn M; Gratacos, Monica; Rybakowski, Filip; Keski-Rahkonen, Anna; Raevuori, Anu; Hudson, James I; Reichborn-Kjennerud, Ted; Monteleone, Palmiero; Karwautz, Andreas; Mannik, Katrin; Baker, Jessica H; O'Toole, Julie K; Trace, Sara E; Davis, Oliver S P; Helder, Sietske G; Ehrlich, Stefan; Herpertz-Dahlmann, Beate; Danner, Unna N; van Elburg, Annemarie A; Clementi, Maurizio; Forzan, Monica; Docampo, Elisa; Lissowska, Jolanta; Hauser, Joanna; Tortorella, Alfonso; Maj, Mario; Gonidakis, Fragiskos; Tziouvas, Konstantinos; Papezova, Hana; Yilmaz, Zeynep; Wagner, Gudrun; Cohen-Woods, Sarah; Herms, Stefan; Julià, Antonio; Rabionet, Raquel; Dick, Danielle M; Ripatti, Samuli; Andreassen, Ole A; Espeseth, Thomas; Lundervold, Astri J; Steen, Vidar M; Pinto, Dalila; Scherer, Stephen W; Aschauer, Harald; Schosser, Alexandra; Alfredsson, Lars; Padyukov, Leonid; Halmi, Katherine A; Mitchell, James; Strober, Michael; Bergen, Andrew W; Kaye, Walter; Szatkiewicz, Jin Peng; Cormand, Bru; Ramos-Quiroga, Josep Antoni; Sánchez-Mora, Cristina; Ribasés, Marta; Casas, Miguel; Hervas, Amaia; Arranz, Maria Jesús; Haavik, Jan; Zayats, Tetyana; Johansson, Stefan; Williams, Nigel; Dempfle, Astrid; Rothenberger, Aribert; Kuntsi, Jonna; Oades, Robert D; Banaschewski, Tobias; Franke, Barbara; Buitelaar, Jan K; Arias Vasquez, Alejandro; Doyle, Alysa E; Reif, Andreas; Lesch, Klaus-Peter; Freitag, Christine; Rivero, Olga; Palmason, Haukur; Romanos, Marcel; Langley, Kate; Rietschel, Marcella; Witt, Stephanie H; Dalsgaard, Soeren; Børglum, Anders D; Waldman, Irwin; Wilmot, Beth; Molly, Nikolas; Bau, Claiton H D; Crosbie, Jennifer; Schachar, Russell; Loo, Sandra K; McGough, James J; Grevet, Eugenio H; Medland, Sarah E; Robinson, Elise; Weiss, Lauren A; Bacchelli, Elena; Bailey, Anthony; Bal, Vanessa; Battaglia, Agatino; Betancur, Catalina; Bolton, Patrick; Cantor, Rita; Celestino-Soper, Patrícia; Dawson, Geraldine; De Rubeis, Silvia; Duque, Frederico; Green, Andrew; Klauck, Sabine M; Leboyer, Marion; Levitt, Pat; Maestrini, Elena; Mane, Shrikant; De-Luca, Daniel Moreno-; Parr, Jeremy; Regan, Regina; Reichenberg, Abraham; Sandin, Sven; Vorstman, Jacob; Wassink, Thomas; Wijsman, Ellen; Cook, Edwin; Santangelo, Susan; Delorme, Richard; Rogé, Bernadette; Magalhaes, Tiago; Arking, Dan; Schulze, Thomas G; Thompson, Robert C; Strohmaier, Jana; Matthews, Keith; Melle, Ingrid; Morris, Derek; Blackwood, Douglas; McIntosh, Andrew; Bergen, Sarah E; Schalling, Martin; Jamain, Stéphane; Maaser, Anna; Fischer, Sascha B; Reinbold, Céline S; Fullerton, Janice M; Guzman-Parra, José; Mayoral, Fermin; Schofield, Peter R; Cichon, Sven; Mühleisen, Thomas W; Degenhardt, Franziska; Schumacher, Johannes; Bauer, Michael; Mitchell, Philip B; Gershon, Elliot S; Rice, John; Potash, James B; Zandi, Peter P; Craddock, Nick; Ferrier, I Nicol; Alda, Martin; Rouleau, Guy A; Turecki, Gustavo; Ophoff, Roel; Pato, Carlos; Anjorin, Adebayo; Stahl, Eli; Leber, Markus; Czerski, Piotr M; Cruceanu, Cristiana; Jones, Ian R; Posthuma, Danielle; Andlauer, Till F M; Forstner, Andreas J; Streit, Fabian; Baune, Bernhard T; Air, Tracy; Sinnamon, Grant; Wray, Naomi R; MacIntyre, Donald J; Porteous, David; Homuth, Georg; Rivera, Margarita; Grove, Jakob; Middeldorp, Christel M; Hickie, Ian; Pergadia, Michele; Mehta, Divya; Smit, Johannes H; Jansen, Rick; de Geus, Eco; Dunn, Erin; Li, Qingqin S; Nauck, Matthias; Schoevers, Robert A; Beekman, Aartjan Tf; Knowles, James A; Viktorin, Alexander; Arnold, Paul; Barr, Cathy L; Bedoya-Berrio, Gabriel; Bienvenu, O Joseph; Brentani, Helena; Burton, Christie; Camarena, Beatriz; Cappi, Carolina; Cath, Danielle; Cavallini, Maria; Cusi, Daniele; Darrow, Sabrina; Denys, Damiaan; Derks, Eske M; Dietrich, Andrea; Fernandez, Thomas; Figee, Martijn; Freimer, Nelson; Gerber, Gloria; Grados, Marco; Greenberg, Erica; Hanna, Gregory L; Hartmann, Andreas; Hirschtritt, Matthew E; Hoekstra, Pieter J; Huang, Alden; Huyser, Chaim; Illmann, Cornelia; Jenike, Michael; Kuperman, Samuel; Leventhal, Bennett; Lochner, Christine; Lyon, Gholson J; Macciardi, Fabio; Madruga-Garrido, Marcos; Malaty, Irene A; Maras, Athanasios; McGrath, Lauren; Miguel, Eurípedes C; Mir, Pablo; Nestadt, Gerald; Nicolini, Humberto; Okun, Michael S; Pakstis, Andrew; Paschou, Peristera; Piacentini, John; Pittenger, Christopher; Plessen, Kerstin; Ramensky, Vasily; Ramos, Eliana M; Reus, Victor; Richter, Margaret A; Riddle, Mark A; Robertson, Mary M; Roessner, Veit; Rosário, Maria; Samuels, Jack F; Sandor, Paul; Stein, Dan J; Tsetsos, Fotis; Van Nieuwerburgh, Filip; Weatherall, Sarah; Wendland, Jens R; Wolanczyk, Tomasz; Worbe, Yulia; Zai, Gwyneth; Goes, Fernando S; McLaughlin, Nicole; Nestadt, Paul S; Grabe, Hans-Jorgen; Depienne, Christel; Konkashbaev, Anuar; Lanzagorta, Nuria; Valencia-Duarte, Ana; Bramon, Elvira; Buccola, Nancy; Cahn, Wiepke; Cairns, Murray; Chong, Siow A; Cohen, David; Crespo-Facorro, Benedicto; Crowley, James; Davidson, Michael; DeLisi, Lynn; Dinan, Timothy; Donohoe, Gary; Drapeau, Elodie; Duan, Jubao; Haan, Lieuwe; Hougaard, David; Karachanak-Yankova, Sena; Khrunin, Andrey; Klovins, Janis; Kučinskas, Vaidutis; Lee Chee Keong, Jimmy; Limborska, Svetlana; Loughland, Carmel; Lönnqvist, Jouko; Maher, Brion; Mattheisen, Manuel; McDonald, Colm; Murphy, Kieran C; Nenadic, Igor; van Os, Jim; Pantelis, Christos; Pato, Michele; Petryshen, Tracey; Quested, Digby; Roussos, Panos; Sanders, Alan R; Schall, Ulrich; Schwab, Sibylle G; Sim, Kang; So, Hon-Cheong; Stögmann, Elisabeth; Subramaniam, Mythily; Toncheva, Draga; Waddington, John; Walters, James; Weiser, Mark; Cheng, Wei; Cloninger, Robert; Curtis, David; Gejman, Pablo V; Henskens, Frans; Mattingsdal, Morten; Oh, Sang-Yun; Scott, Rodney; Webb, Bradley; Breen, Gerome; Churchhouse, Claire; Bulik, Cynthia M; Daly, Mark; Dichgans, Martin; Faraone, Stephen V; Guerreiro, Rita; Holmans, Peter; Kendler, Kenneth S; Koeleman, Bobby; Mathews, Carol A; Price, Alkes; Scharf, Jeremiah; Sklar, Pamela; Williams, Julie; Wood, Nicholas W; Cotsapas, Chris; Palotie, Aarno; Smoller, Jordan W; Sullivan, Patrick; Rosand, Jonathan; Corvin, Aiden; Neale, Benjamin M

2018-06-22

Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,218 patients and 784,643 control participants and assessed their relationship to 17 phenotypes from 1,191,588 individuals. Psychiatric disorders share common variant risk, whereas neurological disorders appear more distinct from one another and from the psychiatric disorders. We also identified significant sharing between disorders and a number of brain phenotypes, including cognitive measures. Further, we conducted simulations to explore how statistical power, diagnostic misclassification, and phenotypic heterogeneity affect genetic correlations. These results highlight the importance of common genetic variation as a risk factor for brain disorders and the value of heritability-based methods in understanding their etiology. Copyright © 2018 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

Meta-GWAS Accuracy and Power (MetaGAP Calculator Shows that Hiding Heritability Is Partially Due to Imperfect Genetic Correlations across Studies.

Directory of Open Access Journals (Sweden)

Ronald de Vlaming

2017-01-01

Full Text Available Large-scale genome-wide association results are typically obtained from a fixed-effects meta-analysis of GWAS summary statistics from multiple studies spanning different regions and/or time periods. This approach averages the estimated effects of genetic variants across studies. In case genetic effects are heterogeneous across studies, the statistical power of a GWAS and the predictive accuracy of polygenic scores are attenuated, contributing to the so-called 'missing heritability'. Here, we describe the online Meta-GWAS Accuracy and Power (MetaGAP calculator (available at www.devlaming.eu which quantifies this attenuation based on a novel multi-study framework. By means of simulation studies, we show that under a wide range of genetic architectures, the statistical power and predictive accuracy provided by this calculator are accurate. We compare the predictions from the MetaGAP calculator with actual results obtained in the GWAS literature. Specifically, we use genomic-relatedness-matrix restricted maximum likelihood to estimate the SNP heritability and cross-study genetic correlation of height, BMI, years of education, and self-rated health in three large samples. These estimates are used as input parameters for the MetaGAP calculator. Results from the calculator suggest that cross-study heterogeneity has led to attenuation of statistical power and predictive accuracy in recent large-scale GWAS efforts on these traits (e.g., for years of education, we estimate a relative loss of 51-62% in the number of genome-wide significant loci and a relative loss in polygenic score R2 of 36-38%. Hence, cross-study heterogeneity contributes to the missing heritability.

Heritability of rectal temperature and genetic correlations with production and reproduction traits in dairy cattle.

Science.gov (United States)

Dikmen, S; Cole, J B; Null, D J; Hansen, P J

2012-06-01

Genetic selection for body temperature during heat stress might be a useful approach to reduce the magnitude of heat stress effects on production and reproduction. Objectives of the study were to estimate the genetic parameters of rectal temperature (RT) in dairy cows in freestall barns under heat stress conditions and to determine the genetic and phenotypic correlations of rectal temperature with other traits. Afternoon RT were measured in a total of 1,695 lactating Holstein cows sired by 509 bulls during the summer in North Florida. Genetic parameters were estimated with Gibbs sampling, and best linear unbiased predictions of breeding values were predicted using an animal model. The heritability of RT was estimated to be 0.17 ± 0.13. Predicted transmitting abilities for rectal temperature changed 0.0068 ± 0.0020°C/yr from (birth year) 2002 to 2008. Approximate genetic correlations between RT and 305-d milk, fat, and protein yields, productive life, and net merit were significant and positive, whereas approximate genetic correlations between RT and somatic cell count score and daughter pregnancy rate were significant and negative. Rectal temperature during heat stress has moderate heritability, but genetic correlations with economically important traits mean that selection for RT could lead to lower productivity unless methods are used to identify genes affecting RT that do not adversely affect other traits of economic importance. Copyright © 2012 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

Development and demonstration of near-real-time accounting systems for reprocessing plants

International Nuclear Information System (INIS)

Cobb, D.D.; Hakkila, E.A.; Dayem, H.A.; Shipley, J.P.; Baker, A.L.

1981-01-01

A program to develop and demonstrate near-real-time accounting systems for reprocessing plants has been active at Los Alamos since 1976. The technology has been developed through modeling and simulation of process operation and measurement systems and evaluation of these data using decision analysis techniques. Aspects of near-real-time systems have been demonstrated successfully at the AGNS reprocessng plant as part of a joint study of near-real-time accounting

Final Technical Report for EE0006091: H2Pump Hydrogen Recycling System Demonstration

Energy Technology Data Exchange (ETDEWEB)

Staudt, Rhonda [H2Pump LLC, Latham, NY (United States)

2017-02-21

The objective of this project is to demonstrate the product readiness and to quantify the benefits and customer value proposition of H2Pump’s Hydrogen Recycling System (HRS-100™) by installing and analyzing the operation of multiple prototype 100-kg per day systems in real world customer locations. The data gathered will be used to measure reliability, demonstrate the value proposition to customers, and validate our business model. H2Pump will install, track and report multiple field demonstration systems in industrial heat treating and semi-conductor applications. The customer demonstrations will be used to develop case studies and showcase the benefits of the technology to drive market adoption.

Heritability of Transforming Growth Factor-β1 and Tumor Necrosis Factor-Receptor Type 1 Expression and Vitamin D Levels in Healthy Adolescent Twins.

Science.gov (United States)

Mills, Natalie T; Wright, Margie J; Henders, Anjali K; Eyles, Darryl W; Baune, Bernhard T; McGrath, John J; Byrne, Enda M; Hansell, Narelle K; Birosova, Eva; Scott, James G; Martin, Nicholas G; Montgomery, Grant W; Wray, Naomi R; Vinkhuyzen, Anna A E

2015-02-01

Cytokines and vitamin D both have a role in modulating the immune system, and are also potentially useful biomarkers in mental illnesses such as major depressive disorder (MDD) and schizophrenia. Studying the variability of cytokines and vitamin D in a healthy population sample may add to understanding the association between these biomarkers and mental illness. To assess genetic and environmental contributions to variation in circulating levels of cytokines and vitamin D (25-hydroxy vitamin D: 25(OH)D3), we analyzed data from a healthy adolescent twin cohort (mean age 16.2 years; standard deviation 0.25). Plasma cytokine measures were available for 400 individuals (85 MZ, 115 DZ pairs), dried blood spot sample vitamin D measures were available for 378 individuals (70 MZ, 118 DZ pairs). Heritability estimates were moderate but significant for the cytokines transforming growth factor-β1 (TGF-β1), 0.57 (95% CI 0.26-0.80) and tumor necrosis factor-receptor type 1 (TNFR1), 0.50 (95% CI 0.11-0.63) respectively. Measures of 25(OH)D3 were within normal range and heritability was estimated to be high (0.86, 95% CI 0.61-0.94). Assays of other cytokines did not generate meaningful results. These potential biomarkers may be useful in mental illness, with further research warranted in larger sample sizes. They may be particularly important in adolescents with mental illness where diagnostic uncertainty poses a significant clinical challenge.

A field experiment demonstrating plant life-history evolution and its eco-evolutionary feedback to seed predator populations.

Science.gov (United States)

Agrawal, Anurag A; Johnson, Marc T J; Hastings, Amy P; Maron, John L

2013-05-01

The extent to which evolutionary change occurs in a predictable manner under field conditions and how evolutionary changes feed back to influence ecological dynamics are fundamental, yet unresolved, questions. To address these issues, we established eight replicate populations of native common evening primrose (Oenothera biennis). Each population was planted with 18 genotypes in identical frequency. By tracking genotype frequencies with microsatellite DNA markers over the subsequent three years (up to three generations, ≈5,000 genotyped plants), we show rapid and consistent evolution of two heritable plant life-history traits (shorter life span and later flowering time). This rapid evolution was only partially the result of differential seed production; genotypic variation in seed germination also contributed to the observed evolutionary response. Since evening primrose genotypes exhibited heritable variation for resistance to insect herbivores, which was related to flowering time, we predicted that evolutionary changes in genotype frequencies would feed back to influence populations of a seed predator moth that specializes on O. biennis. By the conclusion of the experiment, variation in the genotypic composition among our eight replicate field populations was highly predictive of moth abundance. These results demonstrate how rapid evolution in field populations of a native plant can influence ecological interactions.

Estrogen and phytoestrogens: Effect on eNOS expression and in vitro vasodilation in cerebral arteries in ovariectomized Watanabe heritable hyperlipidemic rabbits

DEFF Research Database (Denmark)

Lund, Claus Otto; Mortensen, A; Nilas, Lisbeth

2007-01-01

-six female ovariectomized Watanabe heritable hyperlipidemic (WHHL) rabbits were randomised to treatment with 17beta-estradiol (17beta-E(2)), SoyLife 150 or control for 16 weeks. Ring segments of basilar artery (BA) and posterior cerebral artery (PCA) were mounted in myographs for isometric tension recordings...

The genetic aetiology of cannabis use initiation: A meta-analysis of genome-wide association studies and a SNP-based heritability estimation

NARCIS (Netherlands)

Verweij, K.J.H.; Vinkhuyzen, A.A.E.; Benyamin, B.; Lynskey, M.T.; Quaye, L.; Agrawal, A.; Gordon, S.D.; Montgomery, G.W.; Madden, P.A.F.; Heath, A.C.; Spector, T.D.; Martin, N.G.; Medland, S.E.

2013-01-01

While initiation of cannabis use is around 40% heritable, not much is known about the underlying genetic aetiology. Here, we meta-analysed two genome-wide association studies of initiation of cannabis use with >10000 individuals. None of the genetic variants reached genome-wide significance. We also

The genetic etiology of cannabis use initiation: a meta-analysis of genome-wide association studies, and a SNP-based heritability estimation.

NARCIS (Netherlands)

Verweij, K.J.H.; Vinkhuyzen, A.A.E.; Benyamin, B.; Lynskey, M.T.; Quaye, L.; Agrawal, A.; Gordon, S.D.; Montgomery, G.W.; Madden, P.A.F.; Heath, A.C.; Spector, T.D.; Martin, N.G.; Medland, S.E.

2013-01-01

While initiation of cannabis use is around 40% heritable, not much is known about the underlying genetic aetiology. Here, we meta-analysed two genome-wide association studies of initiation of cannabis use with > 10 000 individuals. None of the genetic variants reached genome-wide significance. We

Essential nutrient supplementation prevents heritable metabolic disease in multigenerational intrauterine growth-restricted rats

Science.gov (United States)

Goodspeed, Danielle; Seferovic, Maxim D.; Holland, William; Mcknight, Robert A.; Summers, Scott A.; Branch, D. Ware; Lane, Robert H.; Aagaard, Kjersti M.

2015-01-01

Intrauterine growth restriction (IUGR) confers heritable alterations in DNA methylation, rendering risk of adult metabolic syndrome (MetS). Because CpG methylation is coupled to intake of essential nutrients along the one-carbon pathway, we reasoned that essential nutrient supplementation (ENS) may abrogate IUGR-conferred multigenerational MetS. Pregnant Sprague-Dawley rats underwent bilateral uterine artery ligation causing IUGR in F1. Among the F2 generation, IUGR lineage rats were underweight at birth (6.7 vs. 8.0 g, P 30% elevated, P 5-fold less central fat mass, normal hepatic glucose efflux, and >70% reduced circulating triglycerides and very-LDLs compared with IUGR control-fed F2 offspring (P intrauterine growth-restricted rats. PMID:25395450

Upgrade Analog Readout and Digitizing System for ATLAS TileCal Demonstrator

CERN Document Server

Tang, F; Anderson, K; Bohm, C; Hildebrand, K; Muschter, S; Oreglia, M

2015-01-01

The TileCal Demonstrator is a prototype for a future upgrade to the ATLAS hadron calorimeter when the Large Hadron Collider increases luminosity in year 2023 (HL-LHC). It will be used for functionality and performance tests. The Demonstrator has 48 channels of upgraded readout and digitizing electronics and a new digital trigger capability, but is backwards-compatible with the present detector system insofar as it also provides analog trigger signals. The Demonstrator is comprised of 4 identical mechanical mini-drawers, each equipped with up to 12 photomultipliers (PMTs). The on-detector electronics includes 45 Front-End Boards, each serving an individual PMT; 4 Main Boards, each to control and digitize up to 12 PMT signals, and 4 corresponding high-speed Daughter Boards serving as data hubs between on-detector and off-detector electronics. The Demonstrator is fully compatible with the present system, accepting ATLAS triggers, timing and slow control commands for the data acquisition, detector control, and de...

Magnetic Launch Assist System Demonstration Test

Science.gov (United States)

2001-01-01

Engineers at the Marshall Space Flight Center (MSFC) have been testing Magnetic Launch Assist Systems, formerly known as Magnetic Levitation (MagLev) technologies. To launch spacecraft into orbit, a Magnetic Launch Assist system would use magnetic fields to levitate and accelerate a vehicle along a track at a very high speed. Similar to high-speed trains and roller coasters that use high-strength magnets to lift and propel a vehicle a couple of inches above a guideway, the launch-assist system would electromagnetically drive a space vehicle along the track. A full-scale, operational track would be about 1.5-miles long and capable of accelerating a vehicle to 600 mph in 9.5 seconds. This photograph shows a subscale model of an airplane running on the experimental track at MSFC during the demonstration test. This track is an advanced linear induction motor. Induction motors are common in fans, power drills, and sewing machines. Instead of spinning in a circular motion to turn a shaft or gears, a linear induction motor produces thrust in a straight line. Mounted on concrete pedestals, the track is 100-feet long, about 2-feet wide, and about 1.5- feet high. The major advantages of launch assist for NASA launch vehicles is that it reduces the weight of the take-off, the landing gear, the wing size, and less propellant resulting in significant cost savings. The US Navy and the British MOD (Ministry of Defense) are planning to use magnetic launch assist for their next generation aircraft carriers as the aircraft launch system. The US Army is considering using this technology for launching target drones for anti-aircraft training.

In-Space Hybrid Energy Storage System Demonstration on CSUNSat1

Data.gov (United States)

National Aeronautics and Space Administration — Objective: Flight demonstrate the JPL Hybrid Energy Storage System (low temperature, high power) using the SSTP-funded CSUNSat1 CubeSat: Environmental testing...

Intergovernmental Advanced Stationary PEM Fuel Cell System Demonstration Final Report

Energy Technology Data Exchange (ETDEWEB)

Rich Chartrand

2011-08-31

A program to complete the design, construction and demonstration of a PEMFC system fuelled by Ethanol, LPG or NG for telecom applications was initiated in October 2007. Early in the program the economics for Ethanol were shown to be unfeasible and permission was given by DOE to focus on LPG only. The design and construction of a prototype unit was completed in Jun 2009 using commercially available PEM FC stack from Ballard Power Systems. During the course of testing, the high pressure drop of the stack was shown to be problematic in terms of control and stability of the reformer. Also, due to the power requirements for air compression the overall efficiency of the system was shown to be lower than a similar system using internally developed low pressure drop FC stack. In Q3 2009, the decision was made to change to the Plug power stack and a second prototype was built and tested. Overall net efficiency was shown to be 31.5% at 3 kW output. Total output of the system is 6 kW. Using the new stack hardware, material cost reduction of 63% was achieved over the previous Alpha design. During a November 2009 review meeting Plug Power proposed and was granted permission, to demonstrate the new, commercial version of Plug Power's telecom system at CERL. As this product was also being tested as part of a DOE Topic 7A program, this part of the program was transferred to the Topic 7A program. In Q32008, the scope of work of this program was expanded to include a National Grid demonstration project of a micro-CHP system using hightemperature PEM technology. The Gensys Blue system was cleared for unattended operation, grid connection, and power generation in Aug 2009 at Union College in NY state. The system continues to operate providing power and heat to Beuth House. The system is being continually evaluated and improvements to hardware and controls will be implemented as more is learned about the system's operation. The program is instrumental in improving the

Ionizing radiation induces heritable disruption of epithelial cell interactions

Science.gov (United States)

Park, Catherine C.; Henshall-Powell, Rhonda L.; Erickson, Anna C.; Talhouk, Rabih; Parvin, Bahram; Bissell, Mina J.; Barcellos-Hoff, Mary Helen; Chatterjee, A. (Principal Investigator)

2003-01-01

Ionizing radiation (IR) is a known human breast carcinogen. Although the mutagenic capacity of IR is widely acknowledged as the basis for its action as a carcinogen, we and others have shown that IR can also induce growth factors and extracellular matrix remodeling. As a consequence, we have proposed that an additional factor contributing to IR carcinogenesis is the potential disruption of critical constraints that are imposed by normal cell interactions. To test this hypothesis, we asked whether IR affected the ability of nonmalignant human mammary epithelial cells (HMEC) to undergo tissue-specific morphogenesis in culture by using confocal microscopy and imaging bioinformatics. We found that irradiated single HMEC gave rise to colonies exhibiting decreased localization of E-cadherin, beta-catenin, and connexin-43, proteins necessary for the establishment of polarity and communication. Severely compromised acinar organization was manifested by the majority of irradiated HMEC progeny as quantified by image analysis. Disrupted cell-cell communication, aberrant cell-extracellular matrix interactions, and loss of tissue-specific architecture observed in the daughters of irradiated HMEC are characteristic of neoplastic progression. These data point to a heritable, nonmutational mechanism whereby IR compromises cell polarity and multicellular organization.

Heritability of epistaxis in the Australian Thoroughbred racehorse population.

Science.gov (United States)

Velie, B D; Raadsma, H W; Wade, C M; Knight, P K; Hamilton, N A

2014-11-01

Post exercise epistaxis, the manifestation of a severe form of exercise-induced pulmonary haemorrhage (EIPH), has been observed in many equine racing populations. Although multiple analyses have suggested that non-genetic factors may lead to the development of this condition, relatively little consensus has been reached regarding its genetic aetiology. The objective of this study was to provide insight into both genetic and non-genetic factors that may contribute to the expression of epistaxis in the Australian Thoroughbred racing population. Racing records and reported epistaxis occurrences were acquired for 117,088 horses entered in races and official barrier trials from 1 August 2000 until 22 February 2011. Heritability was estimated using two different logistic generalised linear mixed models (lifetime epistaxis risk h(2) = 0.27 and individual race epistaxis risk h(2) = 0.50). Sex, age, and year of birth were shown to be significant; however, trainer, jockey, race distance, condition of the track (i.e. 'going'), racecourse, track surface, number of race starters, year and month of race were not significant. Evidence suggests genetic and non-genetic links to EIPH expressed as epistaxis. Copyright © 2014 Elsevier Ltd. All rights reserved.

A Modular Instrumentation System for NASA's Habitat Demonstration Unit

Science.gov (United States)

Rojdev, Kristina; Kennedy, Kriss; Yim, Hester; Wagner, Raymond S.; Hong, Todd; Studor, George; Delaune, Paul

2010-01-01

NASA's human spaceflight program is focused on developing technologies to expand the reaches of human exploration and science activities beyond low earth orbit. A critical aspect of living in space or on planetary surfaces is habitation, which provides a safe and comfortable space in which humans can live and work. NASA is seeking out the best option for habitation by exploring several different concepts through the Habitat Demonstration Unit (HDU) project. The purpose of this HDU is to develop a fully autonomous habitation system that enables human exploration of space. One critical feature of the HDU project that helps to accomplish its mission of autonomy is the instrumentation system that monitors key subsystems operating within a Habitat configuration. The following paper will discuss previous instrumentation systems used in analog habitat concepts and how the current instrumentation system being implemented on the HDU1-PEM, or pressurized excursion module, is building upon the lessons learned of those previous systems. Additionally, this paper will discuss the benefits and the limitations of implementing a wireless sensor network (WSN) as the basis for data transport in the instrumentation system. Finally, this paper will address the experiences and lessons learned with integration, testing prior to deployment, and field testing at the JSC rock yard. NASA is developing the HDU1-PEM as a step towards a fully autonomous habitation system that enables human exploration of space. To accomplish this purpose, the HDU project is focusing on development, integration, testing, and evaluation of habitation systems. The HDU will be used as a technology pull, testbed, and integration environment in which to advance NASA's understanding of alternative mission architectures, requirements, and operations concepts definition and validation. This project is a multi-year effort. In 2010, the HDU1-PEM will be in a pressurized excursion module configuration, and in 2011 the

Probucol selectively increases oxidation of atherogenic lipoproteins in cholesterol-fed mice and in Watanabe heritable hyperlipidemic rabbits

DEFF Research Database (Denmark)

Lauridsen, S.T.; Mortensen, Alicja

1999-01-01

The anti-atherogenic and cholesterol-lowering drug probucol (0.5-1%) or quercetin (1%), a natural antioxidant, was given to cholesterol-fed (1.5%) mice for a period of 6 weeks and to Watanabe heritable hyperlipidemic (WHHL) rabbits for a period of 8 weeks to investigate the oxidative changes.......001) and cholesterol-fed mice (579.7 +/- 47.3 nmol/g vs. 408.1 +/- 85.8 nmol/g, P mice: P ... and thereby leads to a decrease in cholesterol levels....

Photovoltaic Test and Demonstration Project. [for solar cell power systems

Science.gov (United States)

Forestieri, A. F.; Brandhorst, H. W., Jr.; Deyo, J. N.

1976-01-01

The Photovoltaic Test and Demonstration Project was initiated by NASA in June, 1975, to develop economically feasible photovoltaic power systems suitable for a variety of terrestrial applications. Objectives include the determination of operating characteristic and lifetimes of a variety of solar cell systems and components and development of methodology and techniques for accurate measurements of solar cell and array performance and diagnostic measurements for solar power systems. Initial work will be concerned with residential applications, with testing of the first prototype system scheduled for June, 1976. An outdoor 10 kW array for testing solar power systems is under construction.

Post-weaning parental care increases fitness but is not heritable in North American red squirrels.

Science.gov (United States)

Lane, J E; McAdam, A G; Charmantier, A; Humphries, M M; Coltman, D W; Fletcher, Q; Gorrell, J C; Boutin, S

2015-06-01

Most empirical attempts to explain the evolution of parental care have focused on its costs and benefits (i.e. fitness consequences). In contrast, few investigations have been made of the other necessary prerequisite for evolutionary change, inheritance. Here, we examine the fitness consequences and heritability (h(2)) of a post-weaning parental care behaviour (territory bequeathal) in a wild population of North American red squirrels. Each year, a subset (average across all years = 19%) of reproductive females bequeathed their territory to a dependent offspring. Bequeathing females experienced higher annual reproductive success and did not suffer a survival cost to themselves relative to those females retaining their territory. Bequeathing females thus realized higher relative annual fitness [ω = 1.18 ± 0.03 (SE)] than nonbequeathing females [ω = 0.96 ± 0.02 (SE)]. Additive genetic influences on bequeathal behaviour, however, were not significantly different from 0 (h(2) = 1.9 × 10(-3); 95% highest posterior density interval = 3.04 × 10(-8) to 0.37) and, in fact, bequeathal behaviour was not significantly repeatable (R = 2.0 × 10(-3); 95% HPD interval = 0-0.27). In contrast, directional environmental influences were apparent. Females were more likely to bequeath in years following low food abundance and when food availability in the upcoming autumn was high. Despite an evident fitness benefit, a lack of heritable genetic variance will constrain evolution of this trait. © 2015 European Society For Evolutionary Biology. Journal of Evolutionary Biology © 2015 European Society For Evolutionary Biology.

Heritability of brain activity related to response inhibition: a longitudinal genetic study in adolescent twins

Science.gov (United States)

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

2017-01-01

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

ETV/ESTCP Demonstration Plan - Demonstration and Verification of a Turbine Power Generation System Utilizing Renewable Fuel: Landfill Gas

Science.gov (United States)

This Test and Quality Assurance Plan (TQAP) provides data quality objections for the success factors that were validated during this demonstration include energy production, emissions and emission reductions compared to alternative systems, economics, and operability, including r...

Understanding the role of p53 in adaptive response to radiation-induced germline mutations

International Nuclear Information System (INIS)

Langlois, N.L.; Quinn, J.S.; Somers, C.M.; Boreham, D.R.; Mitchel, R.E.J.

2003-01-01

Full text: Radiation-induced adaptive response is now a widely studied area of radiation biology. Studies have demonstrated reduced levels of radiation-induced biological damage when an 'adaptive dose' is given before a higher 'challenge dose' compared to when the challenge dose is given alone. It has been shown in some systems to be a result of inducible cellular repair systems. The adaptive response has been clearly demonstrated in many model systems, however its impact on heritable effects in the mammalian germline has never been studied. Expanded Simple Tandem Repeat (ESTR) loci have been used as markers demonstrating that induced heritable mutations in mice follow a dose-response relationship. Recent data in our laboratory show preliminary evidence of radiation-induced adaptive response suppressing germline mutations at ESTR loci in wild type mice. The frequency of heritable mutations was significantly reduced when a priming dose of 0.1 Gy was given 24 hours prior to a 1 Gy acute challenging dose. We are now conducting a follow-up study to attempt to understand the mechanism of this adaptive response. P53 is known to play a significant role in governing apoptosis, DNA repair and cancer induction. In order to determine what function p53 has in the adaptive response for heritable mutations, we have mated radiation treated Trp53+/- male mice (C57Bl) to untreated, normal females (C57Bl). Using DNA fingerprinting, we are investigating the rate of inherited radiation-induced mutations on pre- and post-meiotic radiation-treated gametocytes by examining mutation frequencies in offspring DNA. If p53 is integral in the mechanism of adaptive response, we should not see an adaptive response in radiation-induced heritable mutations in these mice. This research is significant in that it will provide insight to understanding the mechanism behind radiation-induced adaptive response in the mammalian germline

Fiscal 2000 achievement report. International demonstrative development of photovoltaic power generation system (Demonstrative study on grid-connected photovoltaic power generation system in Thailand); 2000 nendo seika hokokusho. Taiyoko hatsuden system kokusai kyodo jissho kaihatsu - Taiyoko hatsuden keitou renkei system jissho kenkyu (Tai)

Energy Technology Data Exchange (ETDEWEB)

NONE

2001-09-01

A demonstrative study was conducted in Thailand for grasping the effect on small electricity grids when several photovoltaic power generation systems, including AC modules, are connected to the grid. In fiscal 2000, surveys and studies were conducted about the data of the local power system, where to install the demonstrative system, and how to install the same, which were necessary for working out a basic design for Libong Island newly designated as the site for the demonstrative system. It was then concluded that the demonstrative system be a grid-connected 100 kW-level photovoltaic system comprising one main photovoltaic power station (85 kW), photovoltaic power systems for school buildings (3-6 kW, three schools), and AC modules (110 W, 10 locations). The manufacture of solar cell modules, grid-connected power conditioners, and measuring devices were completed. Civil engineering work and construction were under way on the site, including the construction of a management building, installation of concrete bases for solar cell arrays, construction of fences surrounding the site, and so forth. (NEDO)

Scintiangiographic demonstration of parasitization of systemic blood supply by inflammatory lung disease

Energy Technology Data Exchange (ETDEWEB)

Schlesinger, A.E.; Lee, V.W.; Shapiro, J.H.

1985-03-01

An unusual case in which a computed tomogram demonstrated abnormal, enlarged vessels in the right lower lobe of the lung and suggested an arteriovenous malformation is presented. A scintiangiogram showed abnormal systemic supply to this area in the aortic phase. Contrast angiography demonstrated hypertrophy of the right inferior phrenic artery with abnormal systemic supply to the pleura and parenchyma of the right lower lobe, presumably on the basis of old infection.

First insight into the heritable variation of the resistance to infection with the bacteria causing the withering syndrome disease in Haliotis rufescens abalone.

Science.gov (United States)

Brokordt, Katherina; González, Roxana; Farías, William; Winkler, Federico E; Lohrmann, Karin B

2017-11-01

Withering syndrome disease has experienced worldwide spread in the last decade. This fatal disease for abalone is produced by a rickettsia-like organism (WS-RLO), the bacterium "Candidatus Xenohaliotis californiensis". To evaluate the potential of the red abalone (Haliotis rufescens) to improve its resistance to infection by WS-RLO, the additive genetic component in the variation of this trait was estimated. For this, the variation in infection intensity with WS-RLOs and WS-RLOv (phage-infected RLOs) was analyzed in 56 families of full-sibs maintained for three years in a host-parasite cohabitation aquaculture system. A WS-RLO prevalence of 65% was observed in the analysed population; and from the total WS-RLO inclusions 60% were hyperparasited with the phage (WS-RLOv). The decrease in the food ingestion rate was the sole negative effect associated with increasing WS-RLO intensity of infection, suggesting that the high level of WS-RLOv load may have diminished the symptoms of WS disease in the analyzed abalones. The estimated heritabilities were moderate to mid, but significant, varying from 0.21 to 0.23 and 0.36 for WS-RLO and WS-RLOv infections, respectively. This suggests that variation in resistance to infection with WS-RLO may respond to selection in the evaluated red abalone population. Estimated response to selection (G) for the level of infection by WS-RLO indicated that if the 10% of red abalone with the lowest infection level is selected as broodstock, a 90% reduction in the intensity of infection in the progeny can be expected, even with the lowest estimation of heritability (h 2 =0.21). This strong response would be also due to the large phenotypic variance of this trait. Strong positive correlations, both phenotypic and genotypic, were observed between infection intensities with WS-RLO and WS-RLOv, indicating that selection to increase resistance to one of the types of RLOs will affect resistance in the other in the same direction. This is the first

Plastic and heritable components of phenotypic variation in Nucella lapillus: an assessment using reciprocal transplant and common garden experiments.

Science.gov (United States)

Pascoal, Sonia; Carvalho, Gary; Creer, Simon; Rock, Jenny; Kawaii, Kei; Mendo, Sonia; Hughes, Roger

2012-01-01

Assessment of plastic and heritable components of phenotypic variation is crucial for understanding the evolution of adaptive character traits in heterogeneous environments. We assessed the above in relation to adaptive shell morphology of the rocky intertidal snail Nucella lapillus by reciprocal transplantation of snails between two shores differing in wave action and rearing snails of the same provenance in a common garden. Results were compared with those reported for similar experiments conducted elsewhere. Microsatellite variation indicated limited gene flow between the populations. Intrinsic growth rate was greater in exposed-site than sheltered-site snails, but the reverse was true of absolute growth rate, suggesting heritable compensation for reduced foraging opportunity at the exposed site. Shell morphology of reciprocal transplants partially converged through plasticity toward that of native snails. Shell morphology of F(2)s in the common garden partially retained characteristics of the P-generation, suggesting genetic control. A maternal effect was revealed by greater resemblance of F(1)s than F(2)s to the P-generation. The observed synergistic effects of plastic, maternal and genetic control of shell-shape may be expected to maximise fitness when environmental characteristics become unpredictable through dispersal.

Plastic and heritable components of phenotypic variation in Nucella lapillus: an assessment using reciprocal transplant and common garden experiments.

Directory of Open Access Journals (Sweden)

Sonia Pascoal

Full Text Available Assessment of plastic and heritable components of phenotypic variation is crucial for understanding the evolution of adaptive character traits in heterogeneous environments. We assessed the above in relation to adaptive shell morphology of the rocky intertidal snail Nucella lapillus by reciprocal transplantation of snails between two shores differing in wave action and rearing snails of the same provenance in a common garden. Results were compared with those reported for similar experiments conducted elsewhere. Microsatellite variation indicated limited gene flow between the populations. Intrinsic growth rate was greater in exposed-site than sheltered-site snails, but the reverse was true of absolute growth rate, suggesting heritable compensation for reduced foraging opportunity at the exposed site. Shell morphology of reciprocal transplants partially converged through plasticity toward that of native snails. Shell morphology of F(2s in the common garden partially retained characteristics of the P-generation, suggesting genetic control. A maternal effect was revealed by greater resemblance of F(1s than F(2s to the P-generation. The observed synergistic effects of plastic, maternal and genetic control of shell-shape may be expected to maximise fitness when environmental characteristics become unpredictable through dispersal.

Heritability, covariation and natural selection on 24 traits of common evening primrose (Oenothera biennis) from a field experiment.

Science.gov (United States)

Johnson, M T J; Agrawal, A A; Maron, J L; Salminen, J-P

2009-06-01

This study explored genetic variation and co-variation in multiple functional plant traits. Our goal was to characterize selection, heritabilities and genetic correlations among different types of traits to gain insight into the evolutionary ecology of plant populations and their interactions with insect herbivores. In a field experiment, we detected significant heritable variation for each of 24 traits of Oenothera biennis and extensive genetic covariance among traits. Traits with diverse functions formed several distinct groups that exhibited positive genetic covariation with each other. Genetic variation in life-history traits and secondary chemistry together explained a large proportion of variation in herbivory (r(2) = 0.73). At the same time, selection acted on lifetime biomass, life-history traits and two secondary compounds of O. biennis, explaining over 95% of the variation in relative fitness among genotypes. The combination of genetic covariances and directional selection acting on multiple traits suggests that adaptive evolution of particular traits is constrained, and that correlated evolution of groups of traits will occur, which is expected to drive the evolution of increased herbivore susceptibility. As a whole, our study indicates that an examination of genetic variation and covariation among many different types of traits can provide greater insight into the evolutionary ecology of plant populations and plant-herbivore interactions.

DEMONSTRATION OF AN ADVANCED INTEGRATED CONTROL SYSTEM FOR SIMULTANEOUS EMISSIONS REDUCTION

Energy Technology Data Exchange (ETDEWEB)

Suzanne Shea; Randhir Sehgal; Ilga Celmins; Andrew Maxson

2002-02-01

The primary objective of the project titled ''Demonstration of an Advanced Integrated Control System for Simultaneous Emissions Reduction'' was to demonstrate at proof-of-concept scale the use of an online software package, the ''Plant Environmental and Cost Optimization System'' (PECOS), to optimize the operation of coal-fired power plants by economically controlling all emissions simultaneously. It combines physical models, neural networks, and fuzzy logic control to provide both optimal least-cost boiler setpoints to the boiler operators in the control room, as well as optimal coal blending recommendations designed to reduce fuel costs and fuel-related derates. The goal of the project was to demonstrate that use of PECOS would enable coal-fired power plants to make more economic use of U.S. coals while reducing emissions.

Non-Flow-Through Fuel Cell System Test Results and Demonstration on the SCARAB Rover

Science.gov (United States)

Scheidegger, Brianne, T.; Burke, Kenneth A.; Jakupca, Ian J.

2012-01-01

This paper describes the results of the demonstration of a non-flow-through PEM fuel cell as part of a power system on the SCARAB rover. A 16-cell non-flow-through fuel cell stack from Infinity Fuel Cell and Hydrogen, Inc. was incorporated into a power system designed to act as a range extender by providing power to the rover s hotel loads. This work represents the first attempt at a ground demonstration of this new technology aboard a mobile test platform. Development and demonstration were supported by the Office of the Chief Technologist s Space Power Systems Project and the Advanced Exploration System Modular Power Systems Project.

The Demonstrator for the European Plate Observing System (EPOS)

Science.gov (United States)

Hoffmann, T. L.; Euteneuer, F.; Ulbricht, D.; Lauterjung, J.; Bailo, D.; Jeffery, K. G.

2014-12-01

An important outcome of the 4-year Preparatory Phase of the ESFRI project European Plate Observing System (EPOS) was the development and first implementation of the EPOS Demonstrator by the project's ICT Working Group 7. The Demonstrator implements the vertical integration of the three-layer architectural scheme for EPOS, connecting the Integrated Core Services (ICS), Thematic Core Services (TCS) and the National Research Infrastructures (NRI). The demonstrator provides a single GUI with central key discovery and query functionalities, based on already existing services by the seismic, geologic and geodetic communities. More specifically the seismic services of the Demonstrator utilize webservices and APIs for data and discovery of raw seismic data (FDSN webservices by the EIDA Network), events (Geoportal by EMSC) and analytical data products (e.g., hazard maps by EFEHR via OGC WMS). For geologic services, the EPOS Demonstrator accesses OneGeology Europe which serves the community with geologic maps and point information via OGC webservices. The Demonstrator also provides access to raw geodetic data via a newly developed universal tool called GSAC. The Demonstrator itself resembles the future Integrated Core Service (ICS) and provides direct access to the end user. Its core functionality lies in a metadata catalogue, which serves as the central information hub and stores information about all RIs, related persons, projects, financial background and technical access information. The database schema of the catalogue is based on CERIF, which has been slightly adapted. Currently, the portal provides basic query functions as well as cross domain search. [www.epos.cineca.it

Inheritance and heritability of resistance to citrus leprosis.

Science.gov (United States)

Bastianel, Marinês; de Oliveira, Antonio Carlos; Cristofani, Mariângela; Filho, Oliveiro Guerreiro; Freitas-Astúa, Juliana; Rodrigues, Vandeclei; Astúa-Monge, Gustavo; Machado, Marcos Antônio

2006-10-01

ABSTRACT The genetic inheritance of resistance to leprosis, the most important viral disease of citrus in Brazil, was characterized through the phenotypic assessment of 143 hybrids resulting from crosses between tangor 'Murcott' (Citrus sinensis x C. reticulata) and sweet orange 'Pêra' (C. sinensis), considered to be resistant and susceptible to the disease, respectively. All plants were grafted onto Rangpur lime (C. limonia) and inoculated with Citrus leprosis virus, cytoplasmic type through the infestation with viruliferous mites, Brevipalpus phoenicis. The experiments were arranged in a completely randomized block design with 10 replicates. Incidence and severity of the disease in leaves and stems as well as plant growth parameters (plant height and stem diameter) were recorded for 3 years after the infestation with the viruliferous mites. The average values of all variables were analyzed using principal component analysis, discriminant factorial analysis, estimation of the clonal repeatability coefficients, and frequency of the distributions of the average values for each measured variable. The principal component analysis resulted in the identification of at least two groups with resistance and susceptibility to leprosis, respectively. About 99% of all hybrids were correctly classified according to the discriminant factorial analysis. The broad-sense heritability coefficients for characteristics associated with incidence and severity of leprosis ranged from 0.88 to 0.96. The data suggest that the inheritance of resistance to leprosis may be controlled by only a few genes.

Policy Analysis Screening System (PASS) demonstration: sample queries and terminal instructions

Energy Technology Data Exchange (ETDEWEB)

None

1979-10-16

This document contains the input and output for the Policy Analysis Screening System (PASS) demonstration. This demonstration is stored on a portable disk at the Environmental Impacts Division. Sample queries presented here include: (1) how to use PASS; (2) estimated 1995 energy consumption from Mid-Range Energy-Forecasting System (MEFS) data base; (3) pollution projections from Strategic Environmental Assessment System (SEAS) data base; (4) diesel auto regulations; (5) diesel auto health effects; (6) oil shale health and safety measures; (7) water pollution effects of SRC; (8) acid rainfall from Energy Environmental Statistics (EES) data base; 1990 EIA electric generation by fuel type; sulfate concentrations by Federal region; forecast of 1995 SO/sub 2/ emissions in Region III; and estimated electrical generating capacity in California to 1990. The file name for each query is included.

Heritable transmission of stress resistance by high dietary glucose in Caenorhabditis elegans.

Directory of Open Access Journals (Sweden)

Arnaud Tauffenberger

2014-05-01

Full Text Available Glucose is a major energy source and is a key regulator of metabolism but excessive dietary glucose is linked to several disorders including type 2 diabetes, obesity and cardiac dysfunction. Dietary intake greatly influences organismal survival but whether the effects of nutritional status are transmitted to the offspring is an unresolved question. Here we show that exposing Caenorhabditis elegans to high glucose concentrations in the parental generation leads to opposing negative effects on fecundity, while having protective effects against cellular stress in the descendent progeny. The transgenerational inheritance of glucose-mediated phenotypes is dependent on the insulin/IGF-like signalling pathway and components of the histone H3 lysine 4 trimethylase complex are essential for transmission of inherited phenotypes. Thus dietary over-consumption phenotypes are heritable with profound effects on the health and survival of descendants.

Is the Watanabe heritable hyperlipidemic rabbit a suitable experimental model for percutaneous transluminal coronary angioplasty in humans? A light microscopic, immunohistochemical and ultrastructural study

NARCIS (Netherlands)

Wanibuchi, H.; Dingemans, K. P.; Becker, A. E.; Ueda, M.; Naruko, T.; Tanizawa, S.; Nakamura, K.

1993-01-01

This study was designed to assess an experimental model for the study of mechanisms that underlie restenosis after percutaneous transluminal coronary angioplasty. The Watanabe heritable hyperlipidemic (WHHL) rabbit lacks the receptor for low density lipoproteins, produces atherosclerotic lesions

Demonstration of a utility industry horizontal drilling system: Horizontal well AMH-5 installation report

International Nuclear Information System (INIS)

1992-01-01

The Department of Energy's Office of Technology Development initiated an integrated demonstration of innovative technologies and systems for cleanup of VOCs in soils and groundwater at the Savannah River Site (SRS) in 1989. The overall goal of the program is demonstration of multiple technologies and systems in the fields of drilling, characterization, monitoring, and remediation at a single test bed. Innovative technologies are compared to one another and to baseline technologies in terms of technical performance and cost effectiveness. Transfer of successfully demonstrated technologies and systems to DOE environmental restoration organizations, to other government agencies, and to industry is a critical part of the program. Directional drilling has been shown to be a successful technique for enhancing access to the subsurface, thus improving remediation systems, especially remediation systems which perform in situ. Demonstration of an innovative directional drilling system at the Integrated Demonstration Site at the SRS, was initiated in June of 1992. The directional drilling system was designed to install an in situ remediation system. The drilling system is an experimental compaction/dry drilling technique developed by Charles Machine Works (Ditch Witch reg-sign) of Perry, Oklahoma. A horizontal well was installed in the M Area of the SRS below and parallel to an abandoned tile process sewer line. The installation of the horizontal well was a two-part process. Part one consisted of drilling the borehole, and part two was the horizontal well completion

EDSN: A First Demonstration of a Distributed System of Nanosatellites

Science.gov (United States)

Hu, Steven Hung Kee; Smith, Harrison Brodsky

2013-01-01

Edison Demonstration of SmallSat Networks (EDSN) is the first demonstration of a distributed system of nano-scale satellites to use intersatellite communication while working towards common science and technology goals. This unique mission configuration poses key technological challenges, including multi-satellite deployment, close proximity flight, cross-satellite communications, and simplified and effective operations. Tackling these challenges has required extensive development on EDSNs guidance navigation and control (GNC) and flight software systems. Although use of COTS component is common to the CubeSat community, it is prudent to point out that utilization of these components enables EDSN to accomplish its objectives at relatively low cost ($12M) in comparison to current multi-satellite missions capable of cross-link communications. EDSN is on cost and schedule with flight unit shipment in August 2013. This paper aims to update the community of EDSN's progress since SRR and speaks to the approach EDSN has taken to resolve some of the main issues revolving around a distributed system of nano-scale satellites.

Bi-Modal Face and Speech Authentication: a BioLogin Demonstration System

OpenAIRE

Marcel, Sébastien; Mariéthoz, Johnny; Rodriguez, Yann; Cardinaux, Fabien

2006-01-01

This paper presents a bi-modal (face and speech) authentication demonstration system that simulates the login of a user using its face and its voice. This demonstration is called BioLogin. It runs both on Linux and Windows and the Windows version is freely available for download. Bio\\-Login is implemented using an open source machine learning library and its machine vision package.

Design demonstrations for category B tank systems at Oak Ridge National Laboratory, Oak Ridge, Tennessee

Energy Technology Data Exchange (ETDEWEB)

1994-11-01

This document presents design demonstrations conducted of liquid low-level waste (LLLW) storage tank systems located at the Oak Ridge National Laboratory (ORNL). Demonstration of the design of these tank systems has been stipulated by the Federal Facility Agreement (FFA) between the US Environmental Protection Agency (EPA)-Region IV; the Tennessee Department of Environment and Conservation (TDEC); and the DOE. The FFA establishes four categories of tanks. These are: Category A -- New or replacement tank systems with secondary containment; Category B -- Existing tank systems with secondary containment; Category C -- Existing tank systems without secondary containment; Category D -- Existing tank systems without secondary containment that are removed from service. This document provides a design demonstration of the secondary containment and ancillary equipment of 11 tank systems listed in the FFA as Category B. The design demonstration for each tank is presented.

Design demonstrations for category B tank systems at Oak Ridge National Laboratory, Oak Ridge, Tennessee

International Nuclear Information System (INIS)

1994-11-01

This document presents design demonstrations conducted of liquid low-level waste (LLLW) storage tank systems located at the Oak Ridge National Laboratory (ORNL). Demonstration of the design of these tank systems has been stipulated by the Federal Facility Agreement (FFA) between the US Environmental Protection Agency (EPA)-Region IV; the Tennessee Department of Environment and Conservation (TDEC); and the DOE. The FFA establishes four categories of tanks. These are: Category A -- New or replacement tank systems with secondary containment; Category B -- Existing tank systems with secondary containment; Category C -- Existing tank systems without secondary containment; Category D -- Existing tank systems without secondary containment that are removed from service. This document provides a design demonstration of the secondary containment and ancillary equipment of 11 tank systems listed in the FFA as Category B. The design demonstration for each tank is presented

Laser experimental system as teaching aid for demonstrating basic phenomena of laser feedback

International Nuclear Information System (INIS)

Xu, Ling; Zhao, Shijie; Zhang, Shulian

2015-01-01

An experimental laser teaching system is developed to demonstrate laser feedback phenomena, which bring great harm to optical communication and benefits to precision measurement. The system consists of an orthogonally polarized He-Ne laser, a feedback mirror which reflects the laser output light into the laser cavity, and an optical attenuator which changes the intensity of the feedback light. As the feedback mirror is driven by a piezoelectric ceramic, the attenuator is adjusted and the feedback mirror is tilted, the system can demonstrate many basic laser feedback phenomena, including weak, moderate and strong optical feedback, multiple feedback and polarization flipping. Demonstrations of these phenomena can give students a better understanding about the intensity and polarization of lasers. The system is well designed and assembled, simple to operate, and provides a valuable teaching aid at an undergraduate level. (paper)

Advanced Reactor Passive System Reliability Demonstration Analysis for an External Event

Directory of Open Access Journals (Sweden)

Matthew Bucknor

2017-03-01

Full Text Available Many advanced reactor designs rely on passive systems to fulfill safety functions during accident sequences. These systems depend heavily on boundary conditions to induce a motive force, meaning the system can fail to operate as intended because of deviations in boundary conditions, rather than as the result of physical failures. Furthermore, passive systems may operate in intermediate or degraded modes. These factors make passive system operation difficult to characterize within a traditional probabilistic framework that only recognizes discrete operating modes and does not allow for the explicit consideration of time-dependent boundary conditions. Argonne National Laboratory has been examining various methodologies for assessing passive system reliability within a probabilistic risk assessment for a station blackout event at an advanced small modular reactor. This paper provides an overview of a passive system reliability demonstration analysis for an external event. Considering an earthquake with the possibility of site flooding, the analysis focuses on the behavior of the passive Reactor Cavity Cooling System following potential physical damage and system flooding. The assessment approach seeks to combine mechanistic and simulation-based methods to leverage the benefits of the simulation-based approach without the need to substantially deviate from conventional probabilistic risk assessment techniques. Although this study is presented as only an example analysis, the results appear to demonstrate a high level of reliability of the Reactor Cavity Cooling System (and the reactor system in general for the postulated transient event.

Advanced reactor passive system reliability demonstration analysis for an external event

Energy Technology Data Exchange (ETDEWEB)

Bucknor, Matthew; Grabaskas, David; Brunett, Acacia J.; Grelle, Austin [Argonne National Laboratory, Argonne (United States)

2017-03-15

Many advanced reactor designs rely on passive systems to fulfill safety functions during accident sequences. These systems depend heavily on boundary conditions to induce a motive force, meaning the system can fail to operate as intended because of deviations in boundary conditions, rather than as the result of physical failures. Furthermore, passive systems may operate in intermediate or degraded modes. These factors make passive system operation difficult to characterize within a traditional probabilistic framework that only recognizes discrete operating modes and does not allow for the explicit consideration of time-dependent boundary conditions. Argonne National Laboratory has been examining various methodologies for assessing passive system reliability within a probabilistic risk assessment for a station blackout event at an advanced small modular reactor. This paper provides an overview of a passive system reliability demonstration analysis for an external event. Considering an earthquake with the possibility of site flooding, the analysis focuses on the behavior of the passive Reactor Cavity Cooling System following potential physical damage and system flooding. The assessment approach seeks to combine mechanistic and simulation-based methods to leverage the benefits of the simulation-based approach without the need to substantially deviate from conventional probabilistic risk assessment techniques. Although this study is presented as only an example analysis, the results appear to demonstrate a high level of reliability of the Reactor Cavity Cooling System (and the reactor system in general) for the postulated transient event.

Advanced reactor passive system reliability demonstration analysis for an external event

International Nuclear Information System (INIS)

Bucknor, Matthew; Grabaskas, David; Brunett, Acacia J.; Grelle, Austin

2017-01-01

Many advanced reactor designs rely on passive systems to fulfill safety functions during accident sequences. These systems depend heavily on boundary conditions to induce a motive force, meaning the system can fail to operate as intended because of deviations in boundary conditions, rather than as the result of physical failures. Furthermore, passive systems may operate in intermediate or degraded modes. These factors make passive system operation difficult to characterize within a traditional probabilistic framework that only recognizes discrete operating modes and does not allow for the explicit consideration of time-dependent boundary conditions. Argonne National Laboratory has been examining various methodologies for assessing passive system reliability within a probabilistic risk assessment for a station blackout event at an advanced small modular reactor. This paper provides an overview of a passive system reliability demonstration analysis for an external event. Considering an earthquake with the possibility of site flooding, the analysis focuses on the behavior of the passive Reactor Cavity Cooling System following potential physical damage and system flooding. The assessment approach seeks to combine mechanistic and simulation-based methods to leverage the benefits of the simulation-based approach without the need to substantially deviate from conventional probabilistic risk assessment techniques. Although this study is presented as only an example analysis, the results appear to demonstrate a high level of reliability of the Reactor Cavity Cooling System (and the reactor system in general) for the postulated transient event

Autonomous gas chromatograph system for Thermal Enhanced Vapor Extraction System (TEVES) proof of concept demonstration

International Nuclear Information System (INIS)

Peter, F.J.; Laguna, G.R.

1996-09-01

An autonomous gas chromatograph system was designed and built to support the Thermal Enhanced Vapor Extraction System (TEVES) demonstration. TEVES is a remediation demonstration that seeks to enhance an existing technology (vacuum extraction) by adding a new technology (soil heating). A pilot scale unit was set up at one of the organic waste disposal pits at the Sandia National Laboratories Chemical Waste Landfill (CWL) in Tech Area 3. The responsibility for engineering a major part of the process instrumentation for TEVES belonged to the Manufacturing Control Subsystems Department. The primary mission of the one-of-a-kind hardware/software system is to perform on-site gas sampling and analysis to quantify a variety of volatile organic compounds (VOCs) from various sources during TEVES operations. The secondary mission is to monitor a variety of TEVES process physical parameters such as extraction manifold temperature, pressure, humidity, and flow rate, and various subsurface pressures. The system began operation in September 1994 and was still in use on follow-on projects when this report was published

Development of a Terrestrial Modeling System: The China-wide Demonstration

Science.gov (United States)

Duan, Q.; Dai, Y.; Zheng, X.; Ye, A.; Chen, Z.; Shangguang, W.

2010-12-01

A terrestrial modeling system (TMS) is being developed at Beijing Normal University. The purposes of TMS are (1) to provide a land surface parameterization scheme fully capable of being coupled with and climate and Earth system models of different scales; (2) to provide a standalone platform for simulation and prediction of land surface processes; and (3) to provide a platform for studying human-Earth system interactions. This system will build on and extend existing capabilities at BNU, including the Common Land Model (CoLM) system, high-resolution atmospheric forcing data sets, high-resolution soil and vegetation data sets, and high-performance computing facilities and software. This presentation describes the system design and demonstrates the initial capabilities of TMS in simulating water and energy fluxes over the continental China for a multi-year period.

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.

Design demonstrations for Category B tank systems piping at Oak Ridge National Laboratory, Oak Ridge, Tennessee

International Nuclear Information System (INIS)

1994-12-01

Demonstration of the design of the piping systems described in this report is stipulated by the Federal Facility Agreement (FFA) between the U.S. Environmental Protection Agency (EPA)-Region IV, the Tennessee Department of Environment and Conservation (TDEC), and the U.S. Department of Energy (DOE). This report provides a design demonstration of the secondary containment and ancillary equipment of 30 piping systems designated in the FFA as Category B (i.e., existing tank systems with secondary containment). Based on the findings of the Design Demonstrations for the Remaining 19 Category B Tank Systems, (DOE/OR/03-1150 ampersand D2), three tank systems originally designated as Category B have been redesignated as Category C (i.e., existing tank systems without secondary containment). The design demonstrations were developed using information obtained from design drawings (as-built when available), construction specifications, and interviews with facility operators. Each design demonstration addresses system conformance to the requirements of the FFA (Appendix F, Section C). Deficiencies or restrictions regarding the ability to demonstrate that each of the containment systems conforms to FFA requirements are noted in the discussion of each piping system and presented in Table 2.0-1

Parameters in dynamic models of complex traits are containers of missing heritability.

Directory of Open Access Journals (Sweden)

Yunpeng Wang

Full Text Available Polymorphisms identified in genome-wide association studies of human traits rarely explain more than a small proportion of the heritable variation, and improving this situation within the current paradigm appears daunting. Given a well-validated dynamic model of a complex physiological trait, a substantial part of the underlying genetic variation must manifest as variation in model parameters. These parameters are themselves phenotypic traits. By linking whole-cell phenotypic variation to genetic variation in a computational model of a single heart cell, incorporating genotype-to-parameter maps, we show that genome-wide association studies on parameters reveal much more genetic variation than when using higher-level cellular phenotypes. The results suggest that letting such studies be guided by computational physiology may facilitate a causal understanding of the genotype-to-phenotype map of complex traits, with strong implications for the development of phenomics technology.

EEG spectral phenotypes: heritability and association with marijuana and alcohol dependence in an American Indian community study.

Science.gov (United States)

Ehlers, Cindy L; Phillips, Evelyn; Gizer, Ian R; Gilder, David A; Wilhelmsen, Kirk C

2010-01-15

Native Americans have some of the highest rates of marijuana and alcohol use and abuse, yet neurobiological measures associated with dependence on these substances in this population remain unknown. The present investigation evaluated the heritability of spectral characteristics of the electroencephalogram (EEG) and their correlation with marijuana and alcohol dependence in an American Indian community. Participants (n=626) were evaluated for marijuana (MJ) and alcohol (ALC) dependence, as well as other psychiatric disorders. EEGs were collected from six cortical sites and spectral power determined in five frequency bands (delta 1.0-4.0 Hz, theta 4.0-7.5 Hz, alpha 7.5-12.0 Hz, low beta 12.0-20.0 Hz and high beta/gamma 20-50 Hz). The estimated heritability (h(2)) of the EEG phenotypes was calculated using SOLAR, and ranged from 0.16 to 0.67. Stepwise linear regression was used to detect correlations between MJ and ALC dependence and the spectral characteristics of the EEG using a model that took into account: age, gender, Native American Heritage (NAH) and a lifetime diagnosis of antisocial personality and/or conduct disorder (ASPD/CD). Increases in spectral power in the delta frequency range, were significantly correlated with gender (pEEG delta and high beta/gamma activity are correlated with MJ dependence and alcohol dependence, respectively, in this community sample of Native Americans. Copyright (c) 2009 Elsevier Ireland Ltd. All rights reserved.

The heritability of mental health and wellbeing defined using COMPAS-W, a new composite measure of wellbeing.

Science.gov (United States)

Gatt, Justine M; Burton, Karen L O; Schofield, Peter R; Bryant, Richard A; Williams, Leanne M

2014-09-30

Mental health is not simply the absence of mental illness; rather it is a distinct entity representing wellness. Models of wellbeing have been proposed that emphasize components of subjective wellbeing, psychological wellbeing, or a combination of both. A new 26-item scale of wellbeing (COMPAS-W) was developed in a cohort of 1669 healthy adult twins (18-61 years). The scale was derived using factor analysis of multiple scales of complementary constructs and confirmed using tests of reliability and convergent validity. Bivariate genetic modeling confirmed its heritability. From an original 89 items we identified six independent subcomponents that contributed to wellbeing. The COMPAS-W scale and its subcomponents showed construct validity against psychological and physical health behaviors, high internal consistency (average r=0.71, Wellbeing r=0.84), and 12-month test-retest reliability (average r=0.62, Wellbeing r=0.82). There was a moderate contribution of genetics to total Wellbeing (heritability h(2)=48%) and its subcomponents: Composure (h(2)=24%), Own-worth (h(2)=42%), Mastery (h(2)=40%), Positivity (h(2)=42%), Achievement (h(2)=32%) and Satisfaction (h(2)=43%). Multivariate genetic modeling indicated genetic variance was correlated across the scales, suggesting common genetic factors contributed to Wellbeing and its subcomponents. The COMPAS-W scale provides a validated indicator of wellbeing and offers a new tool to quantify mental health. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

The role of non-genetic inheritance in evolutionary rescue: epigenetic buffering, heritable bet hedging and epigenetic traps.

Science.gov (United States)

O'Dea, Rose E; Noble, Daniel W A; Johnson, Sheri L; Hesselson, Daniel; Nakagawa, Shinichi

2016-01-01

Rapid environmental change is predicted to compromise population survival, and the resulting strong selective pressure can erode genetic variation, making evolutionary rescue unlikely. Non-genetic inheritance may provide a solution to this problem and help explain the current lack of fit between purely genetic evolutionary models and empirical data. We hypothesize that epigenetic modifications can facilitate evolutionary rescue through 'epigenetic buffering'. By facilitating the inheritance of novel phenotypic variants that are generated by environmental change-a strategy we call 'heritable bet hedging'-epigenetic modifications could maintain and increase the evolutionary potential of a population. This process may facilitate genetic adaptation by preserving existing genetic variation, releasing cryptic genetic variation and/or facilitating mutations in functional loci. Although we show that examples of non-genetic inheritance are often maladaptive in the short term, accounting for phenotypic variance and non-adaptive plasticity may reveal important evolutionary implications over longer time scales. We also discuss the possibility that maladaptive epigenetic responses may be due to 'epigenetic traps', whereby evolutionarily novel factors (e.g. endocrine disruptors) hack into the existing epigenetic machinery. We stress that more ecologically relevant work on transgenerational epigenetic inheritance is required. Researchers conducting studies on transgenerational environmental effects should report measures of phenotypic variance, so that the possibility of both bet hedging and heritable bet hedging can be assessed. Future empirical and theoretical work is required to assess the relative importance of genetic and epigenetic variation, and their interaction, for evolutionary rescue.

42 CFR 403.308 - State systems under demonstration projects-mandatory approval.

Science.gov (United States)

2010-10-01

... 42 Public Health 2 2010-10-01 2010-10-01 false State systems under demonstration projects..., DEPARTMENT OF HEALTH AND HUMAN SERVICES GENERAL PROVISIONS SPECIAL PROGRAMS AND PROJECTS Recognition of State... approval of a State system are met under § 403.304 (b)(1)-(10) and § 403.304(c), and, if appropriate § 403...

Field Demonstration of Fuel Crud Filtration System at Ulchin Plant

International Nuclear Information System (INIS)

Kang, Duk-Won; Lee, Doo-Ho; Park, Jong-Youl; Choi, In-Kyu

2007-01-01

Crud deposited onto the fuel assemblies in nuclear power plants was not a serious problem until an upper core flux depression named Axial Offset Anomaly (AOA) was found at Callaway, USA in 1989. Though the mechanism of an AOA is not completely understood, crud is believed to be a key component of initiating AOA. After the sufficient amount of corrosion products in the reactor cooling system are deposited on the fuel clad by a sub-cooled nucleate boiling, boron is adsorbed in the crud. Thus a measurable reduction in the neutron flux occurs which causes an AOA problem. A filtration system has been developed to remove the fuel crud from irradiated fuel assemblies for mitigating the axial offset anomaly under a technical cooperation agreement with DEI (Dominion Engineering Inc.). This filtration system with a fuel cleaning fixture was successfully demonstrated at Ulchin plant unit 2. Within several minutes, detachable crud deposits were effectively removed from the clad surfaces of the fuel assembly. Also, to characterize the crud particles for each fuel assembly, a small crud sampling device and radiation monitor devices were connected to the filtration system during the cleaning operation. In this study, we completed a functional test and demonstration of an ultrasonic fuel cleaning system by using four spent fuel assemblies. It took only 5 minutes to remove the fuel crud from each fuel assembly. In addition, collective dose rates indicated an average of 8 R/Hr per assembly

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.

Chimpanzees demonstrate individual differences in social information use.

Science.gov (United States)

Watson, Stuart K; Vale, Gillian L; Hopper, Lydia M; Dean, Lewis G; Kendal, Rachel L; Price, Elizabeth E; Wood, Lara A; Davis, Sarah J; Schapiro, Steven J; Lambeth, Susan P; Whiten, Andrew

2018-06-19

Studies of transmission biases in social learning have greatly informed our understanding of how behaviour patterns may diffuse through animal populations, yet within-species inter-individual variation in social information use has received little attention and remains poorly understood. We have addressed this question by examining individual performances across multiple experiments with the same population of primates. We compiled a dataset spanning 16 social learning studies (26 experimental conditions) carried out at the same study site over a 12-year period, incorporating a total of 167 chimpanzees. We applied a binary scoring system to code each participant's performance in each study according to whether they demonstrated evidence of using social information from conspecifics to solve the experimental task or not (Social Information Score-'SIS'). Bayesian binomial mixed effects models were then used to estimate the extent to which individual differences influenced SIS, together with any effects of sex, rearing history, age, prior involvement in research and task type on SIS. An estimate of repeatability found that approximately half of the variance in SIS was accounted for by individual identity, indicating that individual differences play a critical role in the social learning behaviour of chimpanzees. According to the model that best fit the data, females were, depending on their rearing history, 15-24% more likely to use social information to solve experimental tasks than males. However, there was no strong evidence of an effect of age or research experience, and pedigree records indicated that SIS was not a strongly heritable trait. Our study offers a novel, transferable method for the study of individual differences in social learning.

Flight Demonstration of X-33 Vehicle Health Management System Components on the F/A-18 Systems Research Aircraft

Science.gov (United States)

Schweikhard, Keith A.; Richards, W. Lance; Theisen, John; Mouyos, William; Garbos, Raymond

2001-01-01

The X-33 reusable launch vehicle demonstrator has identified the need to implement a vehicle health monitoring system that can acquire data that monitors system health and performance. Sanders, a Lockheed Martin Company, has designed and developed a COTS-based open architecture system that implements a number of technologies that have not been previously used in a flight environment. NASA Dryden Flight Research Center and Sanders teamed to demonstrate that the distributed remote health nodes, fiber optic distributed strain sensor, and fiber distributed data interface communications components of the X-33 vehicle health management (VHM) system could be successfully integrated and flown on a NASA F-18 aircraft. This paper briefly describes components of X-33 VHM architecture flown at Dryden and summarizes the integration and flight demonstration of these X-33 VHM components. Finally, it presents early results from the integration and flight efforts.

Genetic and environmental influences on last-year major depression in adulthood: a highly heritable stable liability but strong environmental effects on 1-year prevalence.

Science.gov (United States)

Kendler, K S; Gardner, C O

2017-07-01

This study seeks to clarify the contribution of temporally stable and occasion-specific genetic and environmental influences on risk for major depression (MD). Our sample was 2153 members of female-female twin pairs from the Virginia Twin Registry. We examined four personal interview waves conducted over an 8-year period with MD in the last year defined by DSM-IV criteria. We fitted a structural equation model to the data using classic Mx. The model included genetic and environmental risk factors for a latent, stable vulnerability to MD and for episodes in each of the four waves. The best-fit model was simple and included genetic and unique environmental influences on the latent liability to MD and unique wave-specific environmental effects. The path from latent liability to MD in the last year was constant over time, moderate in magnitude (+0.65) and weaker than the impact of occasion-specific environmental effects (+0.76). Heritability of the latent stable liability to MD was much higher (78%) than that estimated for last-year MD (32%). Of the total unique environmental influences on MD, 13% reflected enduring consequences of earlier environmental insults, 17% diagnostic error and 70% wave-specific short-lived environmental stressors. Both genetic influences on MD and MD heritability are stable over middle adulthood. However, the largest influence on last-year MD is short-lived environmental effects. As predicted by genetic theory, the heritability of MD is increased substantially by measurement at multiple time points largely through the reduction of the effects of measurement error and short-term environmental risk factors.

Design demonstrations for Category B tank system piping at Oak Ridge National Laboratory, Oak Ridge, Tennessee

International Nuclear Information System (INIS)

1994-02-01

Demonstration of the design of the tank systems described in this report is stipulated by the Federal Facility Agreement (FFA) between the U.S. Environmental Protection Agency-Region IV, the Tennessee Department of Environment and Conservation, and the U.S. Department of Energy. This report provides a design demonstration of the secondary containment and ancillary equipment of 30 piping systems listed in the FFA as Category B (i.e., existing tank systems with secondary containment). The design demonstrations were developed using information obtained from design drawings (as-built when available), construction specifications, and interviews with facility operators. Each design demonstration addresses system conformance to the requirements of the FFA (Appendix F, Section C). Deficiencies or restrictions regarding the ability to demonstrate that each of the containment systems conforms to FFA requirements are noted in the discussion of each piping system

Design demonstrations for Category B tank systems at Oak Ridge National Laboratory, Oak Ridge, Tennessee

International Nuclear Information System (INIS)

1992-07-01

This document presents design demonstrations conducted of liquid low-level waste (LLLW) storage tank systems located at the Oak Ridge National Laboratory (ORNL). ORNL has conducted research in energy related fields since 1943. The facilities used to conduct the research include nuclear reactors, chemical pilot plants, research laboratories, radioisotope production laboratories, and support facilities. These facilities have produced a variety of radioactive and/or hazardous wastes. These wastes have been stored and transported through an extensive network of piping and tankage. Demonstration of the design of these tank systems has been stipulated by the Federal Facility Agreement (FFA) between the US Environmental Protection Agency (EPA) - Region IV; the Tennessee Department of Environment and Conservation (TDEC); and the DOE. The FFA establishes four categories of tanks. These are: Category A -- New or Replacement Tank Systems with Secondary Containment; Category B -- Existing Tank Systems with Secondary Containment; Category C -- Existing Tank Systems without Secondary Containment; and Category D -- Existing Tank Systems without Secondary Containment that are; Removed from Service. This document provides a design demonstration of the secondary containment and ancillary equipment of 11 tank systems listed in the FFA as Category ''B.'' The design demonstration for each tank is presented in Section 2. The design demonstrations were developed using information obtained from the design drawings (as-built when available), construction specifications, and interviews with facility operators. The assessments assume that each tank system was constructed in accordance with the design drawings and construction specifications for that system unless specified otherwise. Each design demonstration addresses system conformance to the requirements of the FFA (Appendix F, Subsection C)

Examining Autism Spectrum Disorders by Biomarkers: Example from the Oxytocin and Serotonin Systems

Science.gov (United States)

Hammock, Elizabeth; Veenstra-VanderWeele, Jeremy; Yan, Zhongyu; Kerr, Travis M.; Morris, Marianna; Anderson, George M.; Carter, C. Sue; Cook, Edwin H.; Jacob, Suma

2012-01-01

Objective: Autism spectrum disorder (ASD) is a heritable but highly heterogeneous neuropsychiatric syndrome, which poses challenges for research relying solely on behavioral symptoms or diagnosis. Examining biomarkers may give us ways to identify individuals who demonstrate specific developmental trajectories and etiological factors related to…

Demonstration of a Variable Phase Turbine Power System for Low Temperature Geothermal Resources

Energy Technology Data Exchange (ETDEWEB)

Hays, Lance G

2014-07-07

A variable phase turbine assembly will be designed and manufactured having a turbine, operable with transcritical, two-phase or vapor flow, and a generator – on the same shaft supported by process lubricated bearings. The assembly will be hermetically sealed and the generator cooled by the refrigerant. A compact plate-fin heat exchanger or tube and shell heat exchanger will be used to transfer heat from the geothermal fluid to the refrigerant. The demonstration turbine will be operated separately with two-phase flow and with vapor flow to demonstrate performance and applicability to the entire range of low temperature geothermal resources. The vapor leaving the turbine is condensed in a plate-fin refrigerant condenser. The heat exchanger, variable phase turbine assembly and condenser are all mounted on single skids to enable factory assembly and checkout and minimize installation costs. The system will be demonstrated using low temperature (237F) well flow from an existing large geothermal field. The net power generated, 1 megawatt, will be fed into the existing power system at the demonstration site. The system will demonstrate reliable generation of inexpensive power from low temperature resources. The system will be designed for mass manufacturing and factory assembly and should cost less than $1,200/kWe installed, when manufactured in large quantities. The estimated cost of power for 300F resources is predicted to be less than 5 cents/kWh. This should enable a substantial increase in power generated from low temperature geothermal resources.

Demonstration of Hadoop-GIS: A Spatial Data Warehousing System Over MapReduce.

Science.gov (United States)

Aji, Ablimit; Sun, Xiling; Vo, Hoang; Liu, Qioaling; Lee, Rubao; Zhang, Xiaodong; Saltz, Joel; Wang, Fusheng

2013-11-01

The proliferation of GPS-enabled devices, and the rapid improvement of scientific instruments have resulted in massive amounts of spatial data in the last decade. Support of high performance spatial queries on large volumes data has become increasingly important in numerous fields, which requires a scalable and efficient spatial data warehousing solution as existing approaches exhibit scalability limitations and efficiency bottlenecks for large scale spatial applications. In this demonstration, we present Hadoop-GIS - a scalable and high performance spatial query system over MapReduce. Hadoop-GIS provides an efficient spatial query engine to process spatial queries, data and space based partitioning, and query pipelines that parallelize queries implicitly on MapReduce. Hadoop-GIS also provides an expressive, SQL-like spatial query language for workload specification. We will demonstrate how spatial queries are expressed in spatially extended SQL queries, and submitted through a command line/web interface for execution. Parallel to our system demonstration, we explain the system architecture and details on how queries are translated to MapReduce operators, optimized, and executed on Hadoop. In addition, we will showcase how the system can be used to support two representative real world use cases: large scale pathology analytical imaging, and geo-spatial data warehousing.

Environmental Measurement-While-Drilling System and Horizontal Directional Drilling Technology Demonstration, Hanford Site

International Nuclear Information System (INIS)

Williams, C.V.; Lockwood, G.J.; Normann, R.A.; Myers, D.A.; Gardner, M.G.; Williamson, T.; Huffman, J.

1999-01-01

The Environmental Measurement-While-Drilling (EMWD) system and Horizontal Directional Drilling (HDD) were successfully demonstrated at the Mock Tank Leak Simulation Site and the Drilling Technology Test Site, Hanford, Washington. The use of directional drilling offers an alternative to vertical drilling site characterization. Directional drilling can develop a borehole under a structure, such as a waste tank, from an angled entry and leveling off to horizontal at the desired depth. The EMWD system represents an innovative blend of new and existing technology that provides the capability of producing real-time environmental and drill bit data during drilling operations. The technology demonstration consisted of the development of one borehole under a mock waste tank at a depth of approximately minus8 m (minus27 ft.), following a predetermined drill path, tracking the drill path to within a radius of approximately1.5 m (5 ft.), and monitoring for zones of radiological activity using the EMWD system. The purpose of the second borehole was to demonstrate the capability of drilling to a depth of ∼ -21 m (-70 ft.), the depth needed to obtain access under the Hanford waste tanks, and continue drilling horizontally. This report presents information on the HDD and EMWD technologies, demonstration design, results of the demonstrations, and lessons learned

Familial Aggregation and Heritability of Schizophrenia and Co-aggregation of Psychiatric Illnesses in Affected Families.

Science.gov (United States)

Chou, I-Jun; Kuo, Chang-Fu; Huang, Yu-Shu; Grainge, Matthew J; Valdes, Ana M; See, Lai-Chu; Yu, Kuang-Hui; Luo, Shue-Fen; Huang, Lu-Shuang; Tseng, Wen-Yi; Zhang, Weiya; Doherty, Michael

2017-09-01

Strong familial aggregation of schizophrenia has been reported but there is uncertainty concerning the degree of genetic contribution to the phenotypic variance of the disease. This study aimed to examine the familial aggregation and heritability of schizophrenia, and the relative risks (RRs) of other psychiatric diseases, in relatives of people with schizophrenia using the Taiwan National Health Insurance Database. The study population included individuals with affected first-degree or second-degree relatives identified from all beneficiaries (n = 23 422 955) registered in 2013. Diagnoses of schizophrenia made by psychiatrists were ascertained between January 1, 1996 and December 31, 2013. Having an affected co-twin, first-degree relative, second-degree relative, or spouse was associated with an adjusted RR (95% CI) of 37.86 (30.55-46.92), 6.30 (6.09-6.53), 2.44 (1.91-3.12), and 1.88 (1.64-2.15), respectively. Compared with the general population, individuals with one affected first-degree relative had a RR (95% CI) of 6.00 (5.79-6.22) and those with 2 or more had a RR (95% CI) of 14.66 (13.00-16.53) for schizophrenia. The accountability for the phenotypic variance of schizophrenia was 47.3% for genetic factors, 15.5% for shared environmental factors, and 37.2% for non-shared environmental factors. The RR (95% CI) in individuals with a first-degree relative with schizophrenia was 3.49 (3.34-3.64) for mood disorders and 3.91 (3.35-4.57) for delusional disorders. A family history of schizophrenia is therefore associated with a higher risk of developing schizophrenia, mood disorders, and delusional disorders. Heritability and environmental factors each account for half of the phenotypic variance of schizophrenia. © The Author 2016. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center.

Fiscal 1995 survey report on the environmentally friendly type coal utilization system joint demonstration project. Water-saving coal preparation system joint demonstration project; Kankyo chowagata sekitan riyo system kyodo jissho jigyo. Shosuigata sentan system kyodo jissho jigyo

Energy Technology Data Exchange (ETDEWEB)

NONE

1996-03-01

This project makes demonstration of clean coal technology (CCT) in China and preparation for the base of its spread, controlled environmental pollution due to the coal use by the countries concerned, and contributes to stably secure energy of Japan. The paper made analog operation in the 1960s-1970s, supported by Russia and Poland, introduced two computer systems for operational control and quality control, densimeter, level meter, flow meter and analyzer to coal preparation plants having problems on productivity and quality control, made the optimum operational diagnosis for the plants, and at the same time, demonstrated the comprehensive rehabilitation type system by which water saving, high quality and high effectiveness are obtained. Various types of sensors such as rapid ash meter, scale and densitometer and computers are introduced to coal preparation plants which were recently constructed in China, have jig or heavy liquid cyclone as main preparation equipment and conducts operational control. There, the central control system was demonstrated in which various information collected in the central operation room and in-site equipment is combined by network for high-grade data processing and water saving is achieved. 50 figs., 11 tabs.

Heritability and Repeatability Estimates of Some Measurable Traits in Meat Type Chickens Reared for Ten Weeks in Abeokuta, Nigeria

OpenAIRE

A. J. Sanda; O. Olowofeso; M. A. Adeleke; A. O Oso; S. O. Durosaro; M. O. Sanda

2014-01-01

A total of 150 meat type chickens comprising 50 each of Arbor Acre, Marshall and Ross were used for this study which lasted for 10 weeks at the Federal University of Agriculture, Abeokuta, Nigeria. Growth performance data were collected from the third week through week 10 and data obtained were analysed using the Generalized Linear Model Procedure. Heritability estimates (h2) for body dimensions carried out on the chicken strains ranged from low to high. Marshall broiler ...

Radioactive waste incineration system cold demonstration test, (2)

Energy Technology Data Exchange (ETDEWEB)

Hozumi, Masahiro; Seike, Yasuhiko; Takaoku, Yoshinobu; Yamanaka, Yasuhiro; Asahara, Masaharu; Katagiri, Keishi; Matsumoto, Kenji; Nagae, Madoka

1985-12-01

It is urgently necessary to solve the radioactive waste problem. As an effective means for the volume reduction of low-level radioactive wastes, an improved incineration system is greatly required. SHI's Waste Incineration (WIS) licensed by Combustion Engineering, Inc., has the significant advantage of processing a variety of wastes. We started a cold demonstration test in April, 1984 to verify the excellent performance of WIS. The test was successfully completed in September, 1985 with the record of more than 1000 hours of incineration testing time. In the present paper, we describe the test results during one and half years of test period.

Genetic variation and heritability for cotton seed, fiber and oil traits in gossypium hirsutum

International Nuclear Information System (INIS)

Khan, N.U.; Farhatullah; Batool, S.; Makhdoom, K.; Marwat, K.B.; Hassan, G.; Ahmad, W.; Khan, H.U.

2010-01-01

The research work pertaining to the study of genetic variability, heritability, genetic gain and correlation for cottonseed, fiber and cottonseed oil % in Gossypium hirsutum cultivars was conducted during 2005 at NWFP Agricultural University Peshawar, Pakistan. Analysis of variance manifested highly significant differences among the genotypes for all the traits except seeds per locule. Genetic potential range of eight cotton cultivars for different parameters was recorded i.e. seeds locule-1 (6.33 to 6.60), seeds boll-1 (26.10 to 28.47), seed index (8.61 to 9.69 g), lint index (5.35 to 6.05 g), lint % (35.17 to 38.13 %), seed cotton yield (1200 to 2450 kg ha/sup -1/) and cottonseed oil % (27.52 to 30.15%). Genetic variances were found almost greater than the environmental variances for all the traits except seeds locule-1 and seed index. High broad sense heritability and selection response were also formulated for seeds boll-1 (0.67, 0.84), seed index (0.77, 0.47 g), lint index (0.96, 0.33 g), lint % (0.96, 1.66 %), seed cotton yield (0.98, 643.16 kg) and cottonseed oil % (0.87, 1.28 %), respectively. Correlation of yield with other traits was found positive for majority of traits except seeds locule-1 and cotton seed oil %. Seed cotton yield is our ultimate goal in growing cotton besides lint %. Highest seed cotton yield was recorded in CIM-499 followed by CIM-473, CIM-496 and CIM-506 and were also found as the second and third top scoring genotypes for seeds per boll, seed index, lint % and cottonseed oil %. Cultivar SLH-279 performed better for lint index, lint % and oil %. This type of correlation is rarely found and ultra desirable by the cotton breeders and a little genetic gain in seed and lint traits, and oil content is a great accomplishment. (author)

The Heritability of Macular Response to Supplemental Lutein and Zeaxanthin: A Classic Twin Study

Science.gov (United States)

Hammond, Christopher J.; Liew, S. H. Melissa; Van Kuijk, Frederik J.; Beatty, Stephen; Nolan, John M.; Spector, Tim D.; Gilbert, Clare E.

2012-01-01

Purpose. Antioxidant supplements may reduce age-related macular degeneration (AMD) progression. The macular carotenoids are of particular interest because of their biochemical, optical, and anatomic properties. This classic twin study was designed to determine the heritability of macular pigment (MP) augmentation in response to supplemental lutein (L) and zeaxanthin (Z). Methods. A total of 322 healthy female twin volunteers, aged 16–50 years (mean 40 ± 8.7) was enrolled in a prospective, nonrandomized supplement study. Macular pigment optical density (MPOD) measurements using two techniques (2-wavelength fundus autofluorescence [AF] and heterochromatic flicker photometry [HFP]), and serum concentrations of L and Z, were recorded at baseline, and at 3 and 6 months following daily supplementation with 18 mg L and 2.4 mg Z for a study period of 6 months. Results. At baseline, mean MPOD was 0.44 density units (SD 0.21, range 0.04–1.25) using HFP, and 0.41 density units (SD 0.15) using AF. Serum L and Z levels were raised significantly from baseline following 3 months' supplementation (mean increase 223% and 633%, respectively, P < 0.0001 for both), with no MPOD increase. After 6 months' supplementation, a small increase in MPOD was seen (mean increase 0.025 ± 0.16, P = 0.02, using HFP). Subdivision of baseline MPOD into quartiles revealed that baseline levels made no difference to the treatment effect. Genetic factors explained 27% (95% confidence interval [CI] 7–45) of the variation in MPOD response. Distribution profiles of macular pigment did not change in response to supplementation. Conclusions. MPOD response to supplemental L and Z for a period of 6 months was small (an increase over baseline of 5.7% and 3.7%, measured using HFP and AF, respectively), and was moderately heritable. Further study is indicated to investigate the functional and clinical impact of supplementation with the macular carotenoids. PMID:22700713

Heritability estimates for weight gain in Nellore in Mato Grosso state, using model of infinite dimension

Directory of Open Access Journals (Sweden)

D. A. Palharim D. A. Palharim

2013-07-01

Full Text Available Abstract: We used 138,976 records of information of body weights ranging from 60 to 610 days of age, from 27,327 Nelore cattle of herds in the state of Mato Grosso. The random regression model with the covariance function of fourth order to describe the variability of the effects of additive genetic, animal and maternal permanent environment and maternal genetic effect and maternal, showed heritability estimates from 0.209 to 0.423 at the beginning by the end of the trajectory, respectively. There is enough genetic variability to promote genetic gain satisfactory performance for weight after weaning period the animals. Keywords: beef cattle, genetic parameters, selection.

Prevalence, associated factors and heritabilities of metabolic syndrome and its individual components in African Americans: the Jackson Heart Study.

Science.gov (United States)

Khan, Rumana J; Gebreab, Samson Y; Sims, Mario; Riestra, Pia; Xu, Ruihua; Davis, Sharon K

2015-11-01

Both environmental and genetic factors play important roles in the development of metabolic syndrome (MetS). Studies about its associated factors and genetic contribution in African Americans (AA) are sparse. Our aim was to report the prevalence, associated factors and heritability estimates of MetS and its components in AA men and women. Data of this cross-sectional study come from a large community-based Jackson Heart Study (JHS). We analysed a total of 5227 participants, of whom 1636 from 281 families were part of a family study subset of JHS. Participants were classified as having MetS according to the Adult Treatment Panel III criteria. Multiple logistic regression analysis was performed to isolate independently associated factors of MetS (n=5227). Heritability was estimated from the family study subset using variance component methods (n=1636). About 27% of men and 40% of women had MetS. For men, associated factors with having MetS were older age, lower physical activity, higher body mass index, and higher homocysteine and adiponectin levels (pmetabolism playing a central role in the development of MetS and encourage additional efforts to identify the underlying susceptibility genes for this syndrome in AA. 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/

Heterosis and heritability estimates for the survival of the Pacific white shrimp (Litopenaeus vannamei) under the commercial scale ponds

Institute of Scientific and Technical Information of China (English)

LU Xia; LUAN Sheng; CAO Baoxiang; SUI Juan; DAI Ping; MENG Xianhong; LUO Kun; KONG Jie

2017-01-01

The aim of the present study is to detect the potential of the base population from diallel crosses of eight introduced strains of the Pacific white shrimp (Litopenaeus vannamei) for improving the yield. Heterosis and heritability were estimated for pond survival at commercial farm conditions for the base population that included 207 full-sib families from a nested mating design by artificial insemination. Among all the hybrids, the heterosis ranged from–11.37%(UA1×UA2) to 20.53%(UA3×SIN) with an average of 0.953%. The results showed that more than half of the hybrids (51.85%) have negative heterosis for survival rate, but most of the hybrids with positive heterosis have high estimates. The high proportion of negative heterosis for survival rate reminders us that the survival trait also should be considered in the crossbreeding program to avoid yield decrease. However, high positive heterosis manifested in most of the hybrids for survival indicates the usefulness of these hybrids for improving the survival to obtain higher yield by crossbreeding in this breeding program. The heritability estimate for pond survival was 0.092±0.043 when genetic groups were included in the pedigree, and it was significantly different from zero (P<0.05). The results from this study also indicated that significant improvement for survival is possible through selection in L. vannamei.

Heritability of semen traits in German Warmblood stallions.

Science.gov (United States)

Gottschalk, M; Sieme, H; Martinsson, G; Distl, O

2016-07-01

The objectives of the present study were to evaluate genetic parameters for semen quality traits of 241 fertile German Warmblood stallions regularly employed in artificial insemination (AI). Stallions were owned by the National Studs Celle and Warendorf in Germany. Semen traits analyzed were gel-free volume, sperm concentration, total number of sperm, progressive motility and total number of progressively motile sperm. Semen protocols from a total of 63,972 ejaculates were collected between the years 2001 and 2014 for the present analysis. A multivariate linear animal model was employed for estimation of additive genetic and permanent environmental variances among stallions and breeding values (EBVs) for semen traits. Heritabilities estimated for all German Warmblood stallions were highest for gel-free volume (h(2)=0.28) and lowest for total number of progressively motile sperm (h(2)=0.13). The additive genetic correlation among gel-free volume and sperm concentration was highly negative (rg=-0.76). Average reliabilities of EBVs were at 0.37-0.68 for the 241 stallions with own records. The inter-stallion variance explained between 33 and 61% of the trait variance, underlining the major impact of the individual stallion on semen quality traits analyzed here. Recording of semen traits from stallions employed in AI may be recommended because EBVs achieve sufficient accuracies to improve semen quality in future generations. Due to favorable genetic correlations, sperm concentration, total number of sperm and total number of progressively motile sperm may be increased simultaneously. Copyright © 2016 Elsevier B.V. All rights reserved.

Heritable differences in schooling behavior among threespine stickleback populations revealed by a novel assay.

Directory of Open Access Journals (Sweden)

Abigail R Wark

2011-03-01

Full Text Available Identifying the proximate and ultimate mechanisms of social behavior remains a major goal of behavioral biology. In particular, the complex social interactions mediating schooling behavior have long fascinated biologists, leading to theoretical and empirical investigations that have focused on schooling as a group-level phenomenon. However, methods to examine the behavior of individual fish within a school are needed in order to investigate the mechanisms that underlie both the performance and the evolution of schooling behavior. We have developed a technique to quantify the schooling behavior of an individual in standardized but easily manipulated social circumstances. Using our model school assay, we show that threespine sticklebacks (Gasterosteus aculeatus from alternative habitats differ in behavior when tested in identical social circumstances. Not only do marine sticklebacks show increased association with the model school relative to freshwater benthic sticklebacks, they also display a greater degree of parallel swimming with the models. Taken together, these data indicate that marine sticklebacks exhibit a stronger tendency to school than benthic sticklebacks. We demonstrate that these population-level differences in schooling tendency are heritable and are shared by individuals within a population even when they have experienced mixed-population housing conditions. Finally, we begin to explore the stimuli that elicit schooling behavior in these populations. Our data suggest that the difference in schooling tendency between marine and benthic sticklebacks is accompanied by differential preferences for social vs. non-social and moving vs. stationary shelter options. Our study thus provides novel insights into the evolution of schooling behavior, as well as a new experimental approach to investigate the genetic and neural mechanisms that underlie this complex social behavior.

BILLIARDS: Baseline Instrumented Lithology Lander, Inspector and Asteroid Redirection Demonstration System

Science.gov (United States)

Marcus, Matthew; Sloane, Joshua; Ortiz, Oliver; Barbee, Brent

2015-01-01

BILLIARDS Baseline Instrumented Lithology Lander, Inspector, and Asteroid Redirection Demonstration System Proposed demonstration mission for Billiard-Ball concept Select asteroid pair with natural close approach to minimize cost and complexity Primary Objectives Rendezvous with a small (10m), near Earth (alpha) asteroid Maneuver the alpha asteroid to a collision with a 100m (beta) asteroid Produce a detectable deflection or disruption of the beta asteroid Secondary objectives Contribute knowledge of asteroid composition and characteristics Contribute knowledge of small-body formation Opportunity for international collaboration

On the heritability of psoriatic arthritis. Disease concordance among monozygotic and dizygotic twins

DEFF Research Database (Denmark)

Pedersen, Ole Birger; Svendsen, Anders Jørgen; Ejstrup, Leif

2008-01-01

OBJECTIVE: In a nationwide unselected twin population to estimate the relative importance of genetic and environmental effectors in the etiopathogenesis of psoriatic arthritis (PsA). METHODS: The study comprised three Danish nationwide twin cohorts. In 1994 and 2002 a total of 37,388 and 46......,418 Danish twin individuals respectively were asked by questionnaire if they had PsA. Twins reporting PsA were invited to participate in a clinical examination. Patients were classified according to the Moll and Wright (M&W) and the CASPAR criteria. Heritability was estimated by probandwise concordance rates...... and variance component analysis. RESULTS: 228 twin individuals reported PsA. Following diagnostic validation in 184 (81%), 50 probands were diagnosed with PsA according to the M&W criteria. Five of their co-twins were either dead, had emigrated, or did not participate in the twin study and nine did not respond...

Out-of-pile demonstration test of hydrogen production system coupling with HTTR

International Nuclear Information System (INIS)

Inagaki, Yoshiyuki; Nishihara, Tetsuo; Takeda, Tetsuaki; Hada, Kazuhiko; Hayashi, Koji

1999-01-01

In Japan Atomic Energy Research Institute, a hydrogen production system is being designed to produce hydrogen by means of a steam reforming process of natural gas using nuclear heat (10 MW, 905degC) supplied by the High Temperature Engineering Test Reactor (HTTR). The safety principle and criteria are also being investigated in the HTTR hydrogen production system. Prior to coupling of the steam reforming system with the HTTR, an out-of-pile demonstration test was planned to confirm safety, controllability and performance of the steam reforming system under simulated operational conditions of the HTTR hydrogen production system. The out-of-pile test facility simulates key components downstream an intermediate heat exchanger of the HTTR hydrogen production system on a scale of 1 to 30 has a hydrogen production capacity of 110 Nm 3 /h using an electric heater as a reactor substitute. The test facility is under manufacturing aiming at completion in 2000 and followed by the test till 2004. In parallel to this, a hydrogen permeation test and a corrosion test of a catalyst tube of a steam reformer are being carried out to obtain data necessary for the design of the system. This report describes outline of the out-of-pile hydrogen production facility and demonstration test program for the HTTR hydrogen production system at present status. (author)

Out-of-pile demonstration test of hydrogen production system coupling with HTTR

Energy Technology Data Exchange (ETDEWEB)

Inagaki, Yoshiyuki; Nishihara, Tetsuo; Takeda, Tetsuaki; Hada, Kazuhiko; Hayashi, Koji [Japan Atomic Energy Research Inst., Oarai, Ibaraki (Japan). Oarai Research Establishment

1999-07-01

In Japan Atomic Energy Research Institute, a hydrogen production system is being designed to produce hydrogen by means of a steam reforming process of natural gas using nuclear heat (10 MW, 905degC) supplied by the High Temperature Engineering Test Reactor (HTTR). The safety principle and criteria are also being investigated in the HTTR hydrogen production system. Prior to coupling of the steam reforming system with the HTTR, an out-of-pile demonstration test was planned to confirm safety, controllability and performance of the steam reforming system under simulated operational conditions of the HTTR hydrogen production system. The out-of-pile test facility simulates key components downstream an intermediate heat exchanger of the HTTR hydrogen production system on a scale of 1 to 30 has a hydrogen production capacity of 110 Nm{sup 3}/h using an electric heater as a reactor substitute. The test facility is under manufacturing aiming at completion in 2000 and followed by the test till 2004. In parallel to this, a hydrogen permeation test and a corrosion test of a catalyst tube of a steam reformer are being carried out to obtain data necessary for the design of the system. This report describes outline of the out-of-pile hydrogen production facility and demonstration test program for the HTTR hydrogen production system at present status. (author)

Heritability of spinal pain and consequences of spinal pain: a comprehensive genetic epidemiologic analysis using a population-based sample of 15,328 twins ages 20-71 years

DEFF Research Database (Denmark)

Hartvigsen, Jan; Nielsen, Jan; Kyvik, Kirsten Ohm

2009-01-01

on 15,328 twin individuals (44% monozygotic and 56% dizygotic) from complete twin pairs were included. Genetic susceptibility explained approximately 38% of lumbar pain, 32% of thoracic pain, and 39% of neck pain. For patterns of pain, estimates were 7% for lumbar/thoracic, 24% for lumbar/cervical, 0......% for thoracic/cervical, and 35% for pain in all 3 areas. Moderate to high genetic correlations indicated a common genetic basis for many spinal pain syndromes. In general, heritability was higher for women, and only a minor age effect was seen. CONCLUSION: Heritability estimates for pain in different spinal......OBJECTIVE: To assess the relative contribution of genetic and environmental factors to different definitions of spinal pain and consequences of spinal pain. METHODS: The Danish Twin Registry contains detailed survey information on spinal pain and its consequences in twins ages 20-71 years...

Demonstration personnel and material tracking system at ANL-W

International Nuclear Information System (INIS)

Roybal, J.A.; Ortiz, S.; Henslee, S.P.

1988-01-01

A Personnel and Material Tracking System (PMTS) was demonstrated in the Fuel Manufacturing Facility (FMF) at Argonne National Laboratories-West (ANL-W) in July, 1987. The PMTS is intended to aid in the transfer of inventory materials from area to area within a facility such as FMF. It is also intended to assure that only those personnel who are authorized to do so may conduct these transfer operations. The PMTS Personnel Movement (PM) subsystem uses portals installed between areas to alert the system to the movement of personnel between areas. The portals are composed to two sensors, one on either side of a proximity badge reader, to detect the presence of personnel entering the portal area. However, a restricted area can be assigned to any badge holder which will cause the system to issue an alert if the badge holder passes into his/her restricted area. The PM subsystem is intended to be transparent when in use. The PMTS Inventory Material Access (IMA) subsystem provides two functions: material control and material access. The material control is provided by the Wireless Alarm Transmission of Container Handling (WATCH) system which is a sensor rf transmitter system that detects item movements. Material access is provided by the Mobile Accountability Verification Inventory Station (MAVIS) system which is a self-powered smart barcode reader

Managing Risk on a Technology Development Project/Advanced Mirror System Demonstrator

Science.gov (United States)

Byberg, Alicia; Russell, J. Kevin; Stahl, Phil (Technical Monitor)

2002-01-01

The risk management study applied to the Advanced Mirror System Demonstrator (AMSD), a precursor mirror technology development for the Next Generation Space Telescope (NGST) is documented. The AMSD will be developed as a segment of a lightweight primary mirror system that can be produced at a low cost and with a short manufacturing schedule. The technology gained from the program will support the risk mitigation strategy for the NGST, as well as other government agency space mirror programs.

Genetic and environmental dissections of sub-phenotypes of metabolic syndrome in the chinese population: a twin-based heritability study

DEFF Research Database (Denmark)

Duan, Haiping; Pang, Zengchang; Zhang, Dongfeng

2011-01-01

contains 654 twins collected in the Qingdao municipality. A total of 10 phenotypes covering anthropometric measurements, plasma glucose levels, lipids, blood pressures etc. were examined. Univariate and bivariate structural equation models were fitted for assessing the genetic and environmental...... contributions. Results: The AE model combining additive genetic (A) and unique environmental (E) factors produced the best fit for all phenotypes except for triglyceride. Modest to high heritability estimates were obtained in univariate analysis ranging from 0.5 for total cholesterol to 0.78 for weight...

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.

Heritable variation of sex pheromone composition and the potential for evolution of resistance to pheromone-based control of the Indian meal moth, Plodia interpunctella.

Science.gov (United States)

Svensson, Glenn P; Ryne, Camilla; Löfstedt, Christer

2002-07-01

The short-term evolutionary effect of pheromone-based mating disruption on the mating ability of the Indian meal moth, Plodia interpunctella, was investigated. Three independent selection lines were established, and the mating ability of moths in plastic tents treated with high doses of pheromone and in control tents was compared for two consecutive generations. In addition, the heritability of the sex pheromone blend, measured as the ratio of two major pheromone components (Z,E)-9,12-tetradecadienyl acetate and (Z,E)-9,12-tetradecadienol, was estimated. Based on a mother-daughter regression analysis including 21 families, the heritability of the pheromone blend was 0.65 +/- 0.14, indicating a potential for evolutionary change of the character. However, no increase in mating ability of females in pheromone-treated tents or alteration of the pheromone blend was observed in any selection line when compared with control lines, indicating no or weak selection on the pheromone blend as well as other traits influencing mating ability of this species under the created mating disruption conditions. Factors contributing to the lack of selection effects are discussed.

Resistance of green lacewing, Chrysoperla carnea Stephens to nitenpyram: Cross-resistance patterns, mechanism, stability, and realized heritability.

Science.gov (United States)

Mansoor, Muhammad Mudassir; Raza, Abu Bakar Muhammad; Abbas, Naeem; Aqueel, Muhammad Anjum; Afzal, Muhammad

2017-01-01

The green lacewing, Chrysoperla carnea Stephens (Neuroptera: Chrysopidae) is a major generalist predator employed in integrated pest management (IPM) plans for pest control on many crops. Nitenpyram, a neonicotinoid insecticide has widely been used against the sucking pests of cotton in Pakistan. Therefore, a field green lacewing strain was exposed to nitenpyram for five generations to investigate resistance evolution, cross-resistance pattern, stability, realized heritability, and mechanisms of resistance. Before starting the selection with nitenpyram, a field collected strain showed 22.08-, 23.09-, 484.69- and 602.90-fold resistance to nitenpyram, buprofezin, spinosad and acetamiprid, respectively compared with the Susceptible strain. After continuous selection for five generations (G1-G5) with nitenpyram in the laboratory, the Field strain (Niten-SEL) developed a resistance ratio of 423.95 at G6. The Niten-SEL strain at G6 showed no cross-resistance to buprofezin and acetamiprid and negative cross-resistance to spinosad compared with the Field strain (G1). For resistance stability, the Niten-SEL strain was left unexposed to any insecticide for four generations (G6-G9) and bioassay results at G10 showed that resistance to nitenpyram, buprofezin and spinosad was stable, while resistance to acetamiprid was unstable. The realized heritability values were 0.97, 0.16, 0.03, and -0.16 to nitenpyram, buprofezin, acetamiprid and spinosad, respectively, after five generations of selection. Moreover, the enzyme inhibitors (PBO or DEF) significantly decreased the nitenpyram resistance in the resistant strain, suggesting that resistance was due to microsomal oxidases and esterases. These results are very helpful for integration of green lacewings in IPM programs. Copyright © 2016 Elsevier B.V. All rights reserved.

Estimation of genetic variability and heritability of wheat agronomic traits resulted from some gamma rays irradiation techniques

International Nuclear Information System (INIS)

Wijaya Murti Indriatama; Trikoesoemaningtyas; Syarifah Iis Aisyah; Soeranto Human

2016-01-01

Gamma irradiation techniques have significant effect on frequency and spectrum of macro-mutation but the study of its effect on micro-mutation that related to genetic variability on mutated population is very limited. The aim of this research was to study the effect of gamma irradiation techniques on genetic variability and heritability of wheat agronomic characters at M2 generation. This research was conducted from July to November 2014, at Cibadak experimental station, Indonesian Center for Agricultural Biotechnology and Genetic Resources Research and Development, Ministry of Agriculture. Three introduced wheat breeding lines (F-44, Kiran-95 & WL-711) were treated by 3 gamma irradiation techniques (acute, fractionated and intermittent). M1 generation of combination treatments were planted and harvested its spike individually per plants. As M2 generation, seeds of 75 M1 spike were planted at the field with one row one spike method and evaluated on the agronomic characters and its genetic components. The used of gamma irradiation techniques decreased mean but increased range values of agronomic traits in M2 populations. Fractionated irradiation induced higher mean and wider range on spike length and number of spike let per spike than other irradiation techniques. Fractionated and intermittent irradiation resulted greater variability of grain weight per plant than acute irradiation. The number of tillers, spike weight, grain weight per spike and grain weight per plant on M2 population resulted from induction of three gamma irradiation techniques have high estimated heritability and broad sense of genetic variability coefficient values. The three gamma irradiation techniques increased genetic variability of agronomic traits on M2 populations, except plant height. (author)

Genetic Divergence and Heritability of 42 Coloured Upland Rice Genotypes (Oryzasativa) as Revealed by Microsatellites Marker and Agro-Morphological Traits

Science.gov (United States)

Ahmad, Faiz; Hanafi, Mohamed Musa; Hakim, Md Abdul; Rafii, Mohd Y.; Arolu, Ibrahim Wasiu; Akmar Abdullah, Siti Nor

2015-01-01

Coloured rice genotypes have greater nutritious value and consumer demand for these varieties is now greater than ever. The documentation of these genotypes is important for the improvement of the rice plant. In this study, 42 coloured rice genotypes were selected for determination of their genetic divergence using 25 simple sequence repeat (SSR) primers and 15 agro-morphological traits. Twenty-one out of the 25 SSR primers showed distinct, reproducible polymorphism. A dendrogram constructed using the SSR primers clustered the 42 coloured rice genotypes into 7 groups. Further, principle component analysis showed 75.28% of total variations were explained by the first—three components. All agro-morphological traits showed significant difference at the (p≤0.05) and (p≤0.01) levels. From the dendrogram constructed using the agro-morphological traits, all the genotypes were clustered into four distinct groups. Pearson’s correlation coefficient showed that among the 15 agro-morphological traits, the yield contributing factor had positive correlation with the number of tillers, number of panicles, and panicle length. The heritability of the 15 traits ranged from 17.68 to 99.69%. Yield per plant and harvest index showed the highest value for both heritability and genetic advance. The information on the molecular and agro-morphological traits can be used in rice breeding programmes to improve nutritional value and produce higher yields. PMID:26393807

Estimation of heritability and genetic correlation of body weight gain and growth curve parameters in Korean native chicken

Directory of Open Access Journals (Sweden)

Prabuddha Manjula

2018-01-01

Full Text Available Objective This study estimated the genetic parameters for body weight gain and growth curve parameter traits in Korean native chicken (KNC. Methods A total of 585 F1 chickens were used along with 88 of their F0 birds. Body weights were measured every 2 weeks from hatching to 20 weeks of age to measure weight gain at 2-week intervals. For each individual, a logistic growth curve model was fitted to the longitudinal growth dataset to obtain three growth curve parameters (α, asymptotic final body weight; β, inflection point; and γ, constant scale that was proportional to the overall growth rate. Genetic parameters were estimated based on the linear-mixed model using a restricted maximum likelihood method. Results Heritability estimates of body weight gain traits were low to high (0.057 to 0.458. Heritability estimates for α, β, and γ were 0.211±0.08, 0.249±0.09, and 0.095±0.06, respectively. Both genetic and phenotypic correlations between weight gain traits ranged from −0.527 to 0.993. Genetic and phenotypic correlation between the growth curve parameters and weight gain traits ranged from −0.968 to 0.987. Conclusion Based on the results of this study population, we suggest that the KNC could be used for selective breeding between 6 and 8 weeks of age to enhance the overall genetic improvement of growth traits. After validation of these results in independent studies, these findings will be useful for further optimization of breeding programs for KNC.

Demonstration (DEMO) of Radio Frequency Identification (RFID) system for tracking and monitoring of nuclear materials.

Energy Technology Data Exchange (ETDEWEB)

Tsai, H. C.; Chen, K.; Liu, Y. Y.; Shuler, J. (Decision and Information Sciences); (USDOE)

2010-01-01

The US Department of Energy (DOE) [Environmental Management (EM), Office of Packaging and Transportation (EM-45)] Packaging Certification Program (PCP) has developed a radiofrequency identification (RFID) tracking and monitoring system for the management of nuclear materials packages during storage and transportation. The system, developed by the PCP team at Argonne National Laboratory, involves hardware modification, application software development, secured database and web server development, and irradiation experiments. In April 2008, Argonne tested key features of the RFID tracking and monitoring system in a weeklong, 1700 mile (2736 km) demonstration employing 14 empty type B fissile material drums of three designs (models 9975, 9977 and ES-3100) that have been certified for shipment by the DOE and the US Nuclear Regulatory Commission. The demonstration successfully integrated global positioning system (GPS) technology for vehicle tracking, satellite/cellular (general packet radio service, or GPRS) technologies for wireless communication, and active RFID tags with multiple sensors (seal integrity, shock, temperature, humidity and battery status) on drums. In addition, the demonstration integrated geographic information system (GIS) technology with automatic alarm notifications of incidents and generated buffer zone reports for emergency response and management of staged incidents. The demonstration was sponsored by EM and the US National Nuclear Security Administration, with the participation of Argonne, Savannah River and Oak Ridge National Laboratories. Over 50 authorised stakeholders across the country observed the demonstration via secured Internet access. The DOE PCP and national laboratories are working on several RFID system implementation projects at selected DOE sites, as well as continuing device and systems development and widening applications beyond DOE sites and possibly beyond nuclear materials to include other radioactive materials.

Demonstration (DEMO) of Radio Frequency Identification (RFID) system for tracking and monitoring of nuclear materials

International Nuclear Information System (INIS)

Tsai, H.C.; Chen, K.; Liu, Y.Y.; Shuler, J.

2010-01-01

The US Department of Energy (DOE) (Environmental Management (EM), Office of Packaging and Transportation (EM-45)) Packaging Certification Program (PCP) has developed a radiofrequency identification (RFID) tracking and monitoring system for the management of nuclear materials packages during storage and transportation. The system, developed by the PCP team at Argonne National Laboratory, involves hardware modification, application software development, secured database and web server development, and irradiation experiments. In April 2008, Argonne tested key features of the RFID tracking and monitoring system in a weeklong, 1700 mile (2736 km) demonstration employing 14 empty type B fissile material drums of three designs (models 9975, 9977 and ES-3100) that have been certified for shipment by the DOE and the US Nuclear Regulatory Commission. The demonstration successfully integrated global positioning system (GPS) technology for vehicle tracking, satellite/cellular (general packet radio service, or GPRS) technologies for wireless communication, and active RFID tags with multiple sensors (seal integrity, shock, temperature, humidity and battery status) on drums. In addition, the demonstration integrated geographic information system (GIS) technology with automatic alarm notifications of incidents and generated buffer zone reports for emergency response and management of staged incidents. The demonstration was sponsored by EM and the US National Nuclear Security Administration, with the participation of Argonne, Savannah River and Oak Ridge National Laboratories. Over 50 authorised stakeholders across the country observed the demonstration via secured Internet access. The DOE PCP and national laboratories are working on several RFID system implementation projects at selected DOE sites, as well as continuing device and systems development and widening applications beyond DOE sites and possibly beyond nuclear materials to include other radioactive materials.

Heritable non-lethal damage to cultured human cells irradiated with heavy ions

International Nuclear Information System (INIS)

Walker, J.T.; Walker, O.A.

2002-01-01

During interplanetary flights the nuclei of all of a crew member's cells could be traversed by at least one high-LET (linear energy transfer) cosmic-ray particle. In mammalian cells irradiated in vitro about 1 in 10,000 of the surviving cells traversed by heavy particles is transformed to malignancy or mutated. What, if anything, happens to the remaining >99% of surviving cells? A retrospective analysis of archived data and samples from heavy-ion irradiation experiments with cultured human cells in vitro indicated that heavy ions caused a dose- and LET-dependent reduction in growth rates of progeny of irradiated cells, based on colony-size distributions. The maximum action cross section for this effect is between 100 and 300 μm 2 , at least as large as the cell nuclear area and up to 3 times the cross section for cell killing. Thus, heritable slow growth is the most prevalent effect of high-LET radiations on cultured animal cells, which may have implications for crew health during deep space travel. (author)

Identification and characterization of porcine mannan-binding lectin A (pMBL-A), and determination of serum concentration heritability

DEFF Research Database (Denmark)

Juul-Madsen, H. R.; Krogh-Meibom, T.; Henryon, M.

2006-01-01

affinity, ion exchange, and size exclusion chromatography and determined many of its characteristics. Based on the N-terminal sequence, multiple sequence alignment, and relative affinities to various carbohydrate ligands, we propose that the MBL purified in this study is pMBL-A. We have generated...... antibodies to this protein and established an immunoassay to quantify pMBL-A in serum. Using this assay, we found breed differences in pMBL-A concentration distributions and heritability estimates. In the Duroc breed (n=588), pMBL-A concentrations show a unimodal distribution with a mean of 9,125 ng...

Heritable patterns of tooth decay in the permanent dentition: principal components and factor analyses.

Science.gov (United States)

Shaffer, John R; Feingold, Eleanor; Wang, Xiaojing; Tcuenco, Karen T; Weeks, Daniel E; DeSensi, Rebecca S; Polk, Deborah E; Wendell, Steve; Weyant, Robert J; Crout, Richard; McNeil, Daniel W; Marazita, Mary L

2012-03-09

Dental caries is the result of a complex interplay among environmental, behavioral, and genetic factors, with distinct patterns of decay likely due to specific etiologies. Therefore, global measures of decay, such as the DMFS index, may not be optimal for identifying risk factors that manifest as specific decay patterns, especially if the risk factors such as genetic susceptibility loci have small individual effects. We used two methods to extract patterns of decay from surface-level caries data in order to generate novel phenotypes with which to explore the genetic regulation of caries. The 128 tooth surfaces of the permanent dentition were scored as carious or not by intra-oral examination for 1,068 participants aged 18 to 75 years from 664 biological families. Principal components analysis (PCA) and factor analysis (FA), two methods of identifying underlying patterns without a priori surface classifications, were applied to our data. The three strongest caries patterns identified by PCA recaptured variation represented by DMFS index (correlation, r = 0.97), pit and fissure surface caries (r = 0.95), and smooth surface caries (r = 0.89). However, together, these three patterns explained only 37% of the variability in the data, indicating that a priori caries measures are insufficient for fully quantifying caries variation. In comparison, the first pattern identified by FA was strongly correlated with pit and fissure surface caries (r = 0.81), but other identified patterns, including a second pattern representing caries of the maxillary incisors, were not representative of any previously defined caries indices. Some patterns identified by PCA and FA were heritable (h(2) = 30-65%, p = 0.043-0.006), whereas other patterns were not, indicating both genetic and non-genetic etiologies of individual decay patterns. This study demonstrates the use of decay patterns as novel phenotypes to assist in understanding the multifactorial nature of dental caries.

The development of the human exploration demonstration project (HEDP), a planetary systems testbed

Science.gov (United States)

Chevers, Edward S.; Korsmeyer, David J.

1993-01-01

The Human Exploration Demonstration Project (HEDP) is an ongoing task at the National Aeronautics and Space Administration's Ames Research Center to address the advanced technology requirements necessary to implement an integrated working and living environment for a planetary surface habitat. The integrated environment will consist of life support systems, physiological monitoring of project crew, a virtual environment workstation, and centralized data acquisition and habitat systems health monitoring. There will be several robotic systems on a simulated planetary landscape external to the habitat environment to provide representative work loads for the crew. This paper describes the status of the HEDP after one year, the major facilities composing the HEDP, the project's role as an Ames Research Center testbed, and the types of demonstration scenarios that will be run to showcase the technologies.

Design demonstrations for the remaining 19 Category B tank systems at Oak Ridge National Laboratory, Oak Ridge, Tennessee

International Nuclear Information System (INIS)

1995-01-01

This document presents design demonstrations conducted of liquid low-level waste (LLLW) storage tank systems located at the Oak Ridge National Laboratory (ORNL). Demonstration of the design of these tank systems has been stipulated by the Federal Facility Agreement (FFA) between the US Environmental Protection Agency (EPA)--Region IV; the Tennessee Department of Environment and Conservation (TDEC); and the DOE. The FFA establishes four categories of tank systems: Category A--New or Replacement Tank Systems with Secondary Containment; Category B--Existing Tank Systems with Secondary Containment; Category C--Existing Tank Systems Without Secondary Containment; and Category D--Existing Tank Systems Without Secondary Containment That are Removed from Service. This document provides a design demonstration of the secondary containment and ancillary equipment of 19 tank systems listed in the FFA as Category B. Three tank systems originally designated as Category B have been redesignated as Category C and one tank system originally designated as Category B has been redesignated as Category D. The design demonstration for each tank is presented in Section 2. The design demonstrations were developed using information obtained from the design drawings (as-built when available), construction specifications, and interviews with facility operators. The assessments assume that each tank system was constructed in accordance with the design drawings and construction specifications for that system unless specified otherwise. Each design demonstration addresses system conformance to the requirements of the FFA

Genetic variability, heritability, character association and path analysis in F/sub 1/ hybrids of tomato

International Nuclear Information System (INIS)

Saleem, M.Y.; Iqbal, Q.; Asghar, M.

2013-01-01

Twenty-five F/sub 1/ hybrids generated from 5*5 diallel crosses were evaluated to study the quantitative genetics of yield and some yield related traits during 2009-10. Worth of room was realized for improvement due to highly significant genetic variations among all traits studied. The highest estimates of genotypic and phenotypic coefficients of variability were recorded for number of fruits per plant while fruit width was the most heritable trait. Plant height, number of fruits per plant and fruit weight revealed significant positive genotypic and phenotypic association along with direct positive effect on fruit yield per plant. It is therefore, recommended that fruit weight, number of fruits per plant and plant height should be given due importance in selection of promising crosses to develop commercial hybrid variety in tomato. (author)

SEXTANT X-Ray Pulsar Navigation Demonstration: Flight System and Test Results

Science.gov (United States)

Winternitz, Luke; Mitchell, Jason W.; Hassouneh, Munther A.; Valdez, Jennifer E.; Price, Samuel R.; Semper, Sean R.; Yu, Wayne H.; Ray, Paul S.; Wood, Kent S.; Arzoumanian, Zaven;