WorldWideScience

Sample records for range size heritability

  1. 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...

  2. 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....

  3. Accuracy of Genomewide Selection for Different Traits with Constant Population Size, Heritability, and Number of Markers

    Directory of Open Access Journals (Sweden)

    Emily Combs

    2013-03-01

    Full Text Available In genomewide selection, the expected correlation between predicted performance and true genotypic value is a function of the training population size (, heritability on an entry-mean basis (, and effective number of chromosome segments underlying the trait (. Our objectives were to (i determine how the prediction accuracy of different traits responds to changes in , , and number of markers ( and (ii determine if prediction accuracy is equal across traits if , , and are kept constant. In a simulated population and four empirical populations in maize ( L., barley ( L., and wheat ( L., we added random nongenetic effects to the phenotypic data to reduce to 0.50, 0.30 and 0.20. As expected, increasing , , and increased prediction accuracy. For the same trait within the same population, prediction accuracy was constant for different combinations of and that led to the same . Different traits, however, varied in their prediction accuracy even when , , and were constant. Yield traits had lower prediction accuracy than other traits despite the constant , , and . Empirical evidence and experience on the predictability of different traits are needed in designing training populations.

  4. Inversion of spheroid particle size distribution in wider size range and aspect ratio range

    Directory of Open Access Journals (Sweden)

    Tang Hong

    2013-01-01

    Full Text Available The non-spherical particle sizing is very important in the aerosol science, and it can be determined by the light extinction measurement. This paper studies the effect of relationship of the size range and aspect ratio range on the inversion of spheroid particle size distribution by the dependent mode algorithm. The T matrix method and the geometric optics approximation method are used to calculate the extinction efficiency of the spheroids with different size range and aspect ratio range, and the inversion of spheroid particle size distribution in these different ranges is conducted. Numerical simulation indicates that a fairly reasonable representation of the spheroid particle size distribution can be obtained when the size range and aspect ratio range are suitably chosen.

  5. 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.

  6. Heritability of ocular component dimensions in chickens: genetic variants controlling susceptibility to experimentally induced myopia and pretreatment eye size are distinct.

    Science.gov (United States)

    Chen, Yen-Po; Prashar, Ankush; Erichsen, Jonathan T; To, Chi-Ho; Hocking, Paul M; Guggenheim, Jeremy A

    2011-06-08

    Purpose. To investigate the extent to which shared genetic variants control (1) multiple ocular component dimensions and (2) both normal eye length and susceptibility to visually induced myopic eye growth. Methods. Two laboratory-reared populations of chicks were examined. The first was a three-generation pedigree of White Leghorn (WL) birds used in a selective breeding experiment testing susceptibility to monocular deprivation of sharp vision (DSV). The chicks were assessed before (age, 4 days) and after 4 days of treatment with diffusers. The second was the 10th generation of an advanced intercross line (AIL) derived from a broiler-layer cross (age, 3 weeks). Variance components analysis was used to estimate heritability and to assess the evidence for shared genetic determination. Results. All measured ocular components were moderately or highly heritable (range, 0.36-0.61; all P shared across some ocular traits (corneal curvature, vitreous chamber depth, and axial length) but distinct for others (lens thickness and corneal thickness). The genetic variants controlling susceptibility to visually induced myopia in chicks are different from those controlling normal eye size.

  7. Body size in five-year-old twins: heritability and comparison to singleton standards.

    Science.gov (United States)

    Estourgie-van Burk, G Frederiek; Bartels, Meike; van Beijsterveldt, Toos C E M; Delemarre-van de Waal, Henriette A; Boomsma, Dorret I

    2006-10-01

    The aim of this study is to examine causes of individual differences in height, weight and body mass index (BMI) in 5-year-old children registered with the Netherlands Twin Register. In addition, we examine whether the results of twin studies can be expanded to the singleton population by comparing the data from twins to Dutch reference growth data and by looking at the twins' target height, which was derived from parental height. For 2996 5-year-old twin pairs, information on height and weight and on parental height was available. Univariate and bivariate genetic analyses of height and weight and univariate analyses of BMI were conducted. In order to compare the twins to the singleton population, standard deviation scores (SDS) for height, BMI and target height were calculated based on Dutch reference growth charts for the general population from 1997. Genetic influences were an important source of variation in height, weight and BMI and the main source of covariation between height and weight. Additive genetic factors accounted for 69% and 66% of the individual differences in height in boys and girls, respectively. For weight, heritability estimates were 59% in boys and 78% in girls and for BMI 34% and 74%. The influence of common environment on height was 25% and 27%, on weight 24% and 10% and on BMI 44% and 12% in boys and girls. The bivariate model showed a large overlap between the genes influencing height and weight. Genes explain 78% (in boys) and 76% (in girls) of the covariance between weight and height. At the age of 5 years, female twins were as tall as singleton children, while male twins were shorter than singletons. For both boys and girls, however, mean height SDS was 0.6 standard deviation scores below the mean target height. All twins had lower BMI than singletons. Twins grow fairly well compared to singletons, but they grow below their target height. This may be due to the above average height of twin parents.

  8. Apparatus for handling micron size range particulate material

    Science.gov (United States)

    Friichtenicht, J. F.; Roy, N. L. (Inventor)

    1968-01-01

    An apparatus for handling, transporting, or size classifying comminuted material was described in detail. Electrostatic acceleration techniques for classifying particles as to size in the particle range from 0.1 to about 100 microns diameter were employed.

  9. Effects of sample size on KERNEL home range estimates

    Science.gov (United States)

    Seaman, D.E.; Millspaugh, J.J.; Kernohan, Brian J.; Brundige, Gary C.; Raedeke, Kenneth J.; Gitzen, Robert A.

    1999-01-01

    Kernel methods for estimating home range are being used increasingly in wildlife research, but the effect of sample size on their accuracy is not known. We used computer simulations of 10-200 points/home range and compared accuracy of home range estimates produced by fixed and adaptive kernels with the reference (REF) and least-squares cross-validation (LSCV) methods for determining the amount of smoothing. Simulated home ranges varied from simple to complex shapes created by mixing bivariate normal distributions. We used the size of the 95% home range area and the relative mean squared error of the surface fit to assess the accuracy of the kernel home range estimates. For both measures, the bias and variance approached an asymptote at about 50 observations/home range. The fixed kernel with smoothing selected by LSCV provided the least-biased estimates of the 95% home range area. All kernel methods produced similar surface fit for most simulations, but the fixed kernel with LSCV had the lowest frequency and magnitude of very poor estimates. We reviewed 101 papers published in The Journal of Wildlife Management (JWM) between 1980 and 1997 that estimated animal home ranges. A minority of these papers used nonparametric utilization distribution (UD) estimators, and most did not adequately report sample sizes. We recommend that home range studies using kernel estimates use LSCV to determine the amount of smoothing, obtain a minimum of 30 observations per animal (but preferably a?Y50), and report sample sizes in published results.

  10. Geographic range size and extinction risk assessment in nomadic species.

    Science.gov (United States)

    Runge, Claire A; Tulloch, Ayesha; Hammill, Edd; Possingham, Hugh P; Fuller, Richard A

    2015-06-01

    Geographic range size is often conceptualized as a fixed attribute of a species and treated as such for the purposes of quantification of extinction risk; species occupying smaller geographic ranges are assumed to have a higher risk of extinction, all else being equal. However many species are mobile, and their movements range from relatively predictable to-and-fro migrations to complex irregular movements shown by nomadic species. These movements can lead to substantial temporary expansion and contraction of geographic ranges, potentially to levels which may pose an extinction risk. By linking occurrence data with environmental conditions at the time of observations of nomadic species, we modeled the dynamic distributions of 43 arid-zone nomadic bird species across the Australian continent for each month over 11 years and calculated minimum range size and extent of fluctuation in geographic range size from these models. There was enormous variability in predicted spatial distribution over time; 10 species varied in estimated geographic range size by more than an order of magnitude, and 2 species varied by >2 orders of magnitude. During times of poor environmental conditions, several species not currently classified as globally threatened contracted their ranges to very small areas, despite their normally large geographic range size. This finding raises questions about the adequacy of conventional assessments of extinction risk based on static geographic range size (e.g., IUCN Red Listing). Climate change is predicted to affect the pattern of resource fluctuations across much of the southern hemisphere, where nomadism is the dominant form of animal movement, so it is critical we begin to understand the consequences of this for accurate threat assessment of nomadic species. Our approach provides a tool for discovering spatial dynamics in highly mobile species and can be used to unlock valuable information for improved extinction risk assessment and conservation

  11. Global patterns of geographic range size in birds.

    Directory of Open Access Journals (Sweden)

    C David L Orme

    2006-07-01

    Full Text Available Large-scale patterns of spatial variation in species geographic range size are central to many fundamental questions in macroecology and conservation biology. However, the global nature of these patterns has remained contentious, since previous studies have been geographically restricted and/or based on small taxonomic groups. Here, using a database on the breeding distributions of birds, we report the first (to our knowledge global maps of variation in species range sizes for an entire taxonomic class. We show that range area does not follow a simple latitudinal pattern. Instead, the smallest range areas are attained on islands, in mountainous areas, and largely in the southern hemisphere. In contrast, bird species richness peaks around the equator, and towards higher latitudes. Despite these profoundly different latitudinal patterns, spatially explicit models reveal a weak tendency for areas with high species richness to house species with significantly smaller median range area. Taken together, these results show that for birds many spatial patterns in range size described in geographically restricted analyses do not reflect global rules. It remains to be discovered whether global patterns in geographic range size are best interpreted in terms of geographical variation in species assemblage packing, or in the rates of speciation, extinction, and dispersal that ultimately underlie biodiversity.

  12. Indetermination of particle sizing by laser diffraction in the anomalous size ranges

    Science.gov (United States)

    Pan, Linchao; Ge, Baozhen; Zhang, Fugen

    2017-09-01

    The laser diffraction method is widely used to measure particle size distributions. It is generally accepted that the scattering angle becomes smaller and the angles to the location of the main peak of scattered energy distributions in laser diffraction instruments shift to smaller values with increasing particle size. This specific principle forms the foundation of the laser diffraction method. However, this principle is not entirely correct for non-absorbing particles in certain size ranges and these particle size ranges are called anomalous size ranges. Here, we derive the analytical formulae for the bounds of the anomalous size ranges and discuss the influence of the width of the size segments on the signature of the Mie scattering kernel. This anomalous signature of the Mie scattering kernel will result in an indetermination of the particle size distribution when measured by laser diffraction instruments in the anomalous size ranges. By using the singular-value decomposition method we interpret the mechanism of occurrence of this indetermination in detail and then validate its existence by using inversion simulations.

  13. Geographic range size and determinants of avian species richness

    DEFF Research Database (Denmark)

    Jetz, Walter; Rahbek, Carsten

    2002-01-01

    Geographic patterns in species richness are mainly based on wide-ranging species because their larger number of distribution records has a disproportionate contribution to the species richness counts. Here we demonstrate how this effect strongly influences our understanding of what determines...... species richness. Using both conventional and spatial regression models, we show that for sub-Saharan African birds, the apparent role of productivity diminishes with decreasing range size, whereas the significance of topographic heterogeneity increases. The relative importance of geometric constraints...... from the continental edge is moderate. Our findings highlight the failure of traditional species richness models to account for narrow-ranging species that frequently are also threatened....

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

    Science.gov (United States)

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

    2008-01-01

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

  15. Maintenance of phenotypic variation: repeatibility, heritability, and size-dependent processes in a wild brook trout population

    Science.gov (United States)

    Benjamin H. Letcher; Jason A Coombs; Keith H. Nislow

    2011-01-01

    Phenotypic variation in body size can result from within-cohort variation in birth dates, among-individual growth variation and size-selective processes. We explore the relative effects of these processes on the maintenance of wide observed body size variation in stream-dwelling brook trout (Salvelinus fontinalis). Based on the analyses of multiple...

  16. Calibration of aerosol instruments in a wide particle size range

    Energy Technology Data Exchange (ETDEWEB)

    Yli-Ojanpera, J.

    2012-07-01

    Aerosol particles have an important role in many scientific and technological issues. Aerosol particle measurements are widely applied for example in clean room technology, in atmospheric measurements and in studying the Particulate Matter (PM) emissions from traffic and industry. This thesis concentrates on developing new aerosol instrumentation both for measurement and calibration purposes. On the measurement side, the driving force has been the urgent need for instruments that have a fast time response and are able to measure nanoparticles with reasonable accuracy. In this respect, the nanoparticle resolution of the Electrical Low Pressure Impactor (ELPI, Dekati Ltd.) was improved by designing, manufacturing and implementing a new impactor stage (cutpoint 16.7 nm) to the ELPI cascade impactor. The new impactor stage divides the particle size range measured by the filter stage (7-30 nm) between the new stage and the filter stage. As a result, the nanoparticle resolution of the ELPI was improved. This made the device more suitable, for example, for vehicle engine emission measurements. The new stage is currently being sold as a part of the new ELPI+ instrument, which is an improved version of the original ELPI. On the calibration side, the main driving force behind aerosol instrument development has been the lack of calibration standards available for calibrating the number concentration responses of the instruments in the sub-micrometer size range. In this size range, the most common method to calibrate an instrument is to use a differential mobility analyzer (DMA), for obtaining monodisperse particles for the calibration, and a Faraday cup aerosol electrometer (FCAE), for measuring the reference number concentration. Even though, in principle, the DMA allows size selection up to 1 {mu}m in diameter, the calibrations are usually limited to particles below 100 nm because of the multiple charging of particles. To solve this problem, a new concept for realizing a

  17. Abundance-range size relationships in stream vegetation in Denmark

    DEFF Research Database (Denmark)

    Riis, Tenna; Sand-Jensen, Kaj

    2002-01-01

    and compositionof vegetation among stream localities and are likely to promote a positiveinterspecific relationship between abundance and range size through mechanismsof metapopulation dynamics and use of common widely distributed resources.Usingdata from 206 localities in 29 stream systems distributed throughout...... such asobligatory submerged or amphibious species. The amphibious species, which caneasily disperse by seeds between stream systems and by vegetative growth frompermanent bank populations to the open streambed, had a significantly strongerabundance-range relationship than obligatory submerged species probably due...... streamhabitattypes of the same width and lengthwise locations in different stream systemsdidnot show a stronger positive relationship than the overall relationship. Thefewobligatory submerged species having a high local abundance and low range sizecould not be regarded as specialist species on narrowly distributed...

  18. Effect of Trait Heritability, Training Population Size and Marker Density on Genomic Prediction Accuracy Estimation in 22 bi-parental Tropical Maize Populations.

    Science.gov (United States)

    Zhang, Ao; Wang, Hongwu; Beyene, Yoseph; Semagn, Kassa; Liu, Yubo; Cao, Shiliang; Cui, Zhenhai; Ruan, Yanye; Burgueño, Juan; San Vicente, Felix; Olsen, Michael; Prasanna, Boddupalli M; Crossa, José; Yu, Haiqiu; Zhang, Xuecai

    2017-01-01

    Genomic selection is being used increasingly in plant breeding to accelerate genetic gain per unit time. One of the most important applications of genomic selection in maize breeding is to predict and select the best un-phenotyped lines in bi-parental populations based on genomic estimated breeding values. In the present study, 22 bi-parental tropical maize populations genotyped with low density SNPs were used to evaluate the genomic prediction accuracy (rMG ) of the six trait-environment combinations under various levels of training population size (TPS) and marker density (MD), and assess the effect of trait heritability (h2 ), TPS and MD on rMG estimation. Our results showed that: (1) moderate rMG values were obtained for different trait-environment combinations, when 50% of the total genotypes was used as training population and ~200 SNPs were used for prediction; (2) rMG increased with an increase in h2 , TPS and MD, both correlation and variance analyses showed that h2 is the most important factor and MD is the least important factor on rMG estimation for most of the trait-environment combinations; (3) predictions between pairwise half-sib populations showed that the rMG values for all the six trait-environment combinations were centered around zero, 49% predictions had rMG values above zero; (4) the trend observed in rMG differed with the trend observed in rMG /h, and h is the square root of heritability of the predicted trait, it indicated that both rMG and rMG /h values should be presented in GS study to show the accuracy of genomic selection and the relative accuracy of genomic selection compared with phenotypic selection, respectively. This study provides useful information to maize breeders to design genomic selection workflow in their breeding programs.

  19. Geographic range size and extinction risk assessment in nomadic species

    Science.gov (United States)

    Runge, Claire A; Tulloch, Ayesha; Hammill, Edd; Possingham, Hugh P; Fuller, Richard A

    2015-01-01

    Geographic range size is often conceptualized as a fixed attribute of a species and treated as such for the purposes of quantification of extinction risk; species occupying smaller geographic ranges are assumed to have a higher risk of extinction, all else being equal. However many species are mobile, and their movements range from relatively predictable to-and-fro migrations to complex irregular movements shown by nomadic species. These movements can lead to substantial temporary expansion and contraction of geographic ranges, potentially to levels which may pose an extinction risk. By linking occurrence data with environmental conditions at the time of observations of nomadic species, we modeled the dynamic distributions of 43 arid-zone nomadic bird species across the Australian continent for each month over 11 years and calculated minimum range size and extent of fluctuation in geographic range size from these models. There was enormous variability in predicted spatial distribution over time; 10 species varied in estimated geographic range size by more than an order of magnitude, and 2 species varied by >2 orders of magnitude. During times of poor environmental conditions, several species not currently classified as globally threatened contracted their ranges to very small areas, despite their normally large geographic range size. This finding raises questions about the adequacy of conventional assessments of extinction risk based on static geographic range size (e.g., IUCN Red Listing). Climate change is predicted to affect the pattern of resource fluctuations across much of the southern hemisphere, where nomadism is the dominant form of animal movement, so it is critical we begin to understand the consequences of this for accurate threat assessment of nomadic species. Our approach provides a tool for discovering spatial dynamics in highly mobile species and can be used to unlock valuable information for improved extinction risk assessment and conservation

  20. Determining particle size distributions in the inhalable size range for wood dust collected by air samplers.

    Science.gov (United States)

    Harper, Martin; Muller, Brian S; Bartolucci, Al

    2002-10-01

    In the absence of methods for determining particle size distributions in the inhalable size range with good discrimination, the samples collected by personal air sampling devices can only be characterized by their total mass. This parameter gives no information regarding the size distribution of the aerosol or the size-selection characteristics of different samplers in field use conditions. A method is described where the particles collected by a sampler are removed, suspended, and re-deposited on a mixed cellulose-ester filter, and examined by optical microscopy to determine particle aerodynamic diameters. This method is particularly appropriate to wood dust particles which are generally large and close to rectangular prisms in shape. Over 200 wood dust samples have been collected in three different wood-products industries, using the traditional closed-face polystyrene/acrylonitrile cassette, the Institute of Occupational Medicine inhalable sampler, and the Button sampler developed by the University of Cincinnati. A portion of these samples has been analyzed to determine the limitations of this method. Extensive quality control measures are being developed to improve the robustness of the procedure, and preliminary results suggest the method has an accuracy similar to that required of National Institute for Occupational Safety and Health (NIOSH) methods. The results should provide valuable insights into the collection characteristics of the samplers and the impact of these characteristics on comparison of sampler results to present and potential future limit values. The NIOSH Deep South Education and Research Center has a focus on research into hazards of the forestry and associated wood-products industry, and it is hoped to expand this activity in the future.

  1. Efficiency of genomic selection using Bayesian multimarker models for traits selected to reflect a wide range of heritabilities and frequencies of detected quantitative traits loci in mice

    DEFF Research Database (Denmark)

    Kapell, Dagmar NRG; Sorensen, Daniel; Su, Guosheng

    2012-01-01

    generally performed better than traditional polygenic selection, especially in the context of between family cross-validation. Reducing the number of markers considered to affect the trait did not significantly change PA for most traits, particularly in the case of within family cross...... families. Results Genomic selection showed a high predictive ability (PA) in comparison to traditional polygenic selection, especially for traits of moderate heritability and when cross-validation was between families. This occurred although the proportion of genomic variance of traits using genomic models...

  2. Diel Surface Temperature Range Scales with Lake Size.

    Directory of Open Access Journals (Sweden)

    R Iestyn Woolway

    Full Text Available Ecological and biogeochemical processes in lakes are strongly dependent upon water temperature. Long-term surface warming of many lakes is unequivocal, but little is known about the comparative magnitude of temperature variation at diel timescales, due to a lack of appropriately resolved data. Here we quantify the pattern and magnitude of diel temperature variability of surface waters using high-frequency data from 100 lakes. We show that the near-surface diel temperature range can be substantial in summer relative to long-term change and, for lakes smaller than 3 km2, increases sharply and predictably with decreasing lake area. Most small lakes included in this study experience average summer diel ranges in their near-surface temperatures of between 4 and 7°C. Large diel temperature fluctuations in the majority of lakes undoubtedly influence their structure, function and role in biogeochemical cycles, but the full implications remain largely unexplored.

  3. Diel Surface Temperature Range Scales with Lake Size.

    Science.gov (United States)

    Woolway, R Iestyn; Jones, Ian D; Maberly, Stephen C; French, Jon R; Livingstone, David M; Monteith, Donald T; Simpson, Gavin L; Thackeray, Stephen J; Andersen, Mikkel R; Battarbee, Richard W; DeGasperi, Curtis L; Evans, Christopher D; de Eyto, Elvira; Feuchtmayr, Heidrun; Hamilton, David P; Kernan, Martin; Krokowski, Jan; Rimmer, Alon; Rose, Kevin C; Rusak, James A; Ryves, David B; Scott, Daniel R; Shilland, Ewan M; Smyth, Robyn L; Staehr, Peter A; Thomas, Rhian; Waldron, Susan; Weyhenmeyer, Gesa A

    2016-01-01

    Ecological and biogeochemical processes in lakes are strongly dependent upon water temperature. Long-term surface warming of many lakes is unequivocal, but little is known about the comparative magnitude of temperature variation at diel timescales, due to a lack of appropriately resolved data. Here we quantify the pattern and magnitude of diel temperature variability of surface waters using high-frequency data from 100 lakes. We show that the near-surface diel temperature range can be substantial in summer relative to long-term change and, for lakes smaller than 3 km2, increases sharply and predictably with decreasing lake area. Most small lakes included in this study experience average summer diel ranges in their near-surface temperatures of between 4 and 7°C. Large diel temperature fluctuations in the majority of lakes undoubtedly influence their structure, function and role in biogeochemical cycles, but the full implications remain largely unexplored.

  4. What determines a species' geographical range? Thermal biology and latitudinal range size relationships in European diving beetles (Coleoptera: Dytiscidae).

    Science.gov (United States)

    Calosi, Piero; Bilton, David T; Spicer, John I; Votier, Stephen C; Atfield, Andrew

    2010-01-01

    1. The geographical range sizes of individual species vary considerably in extent, although the factors underlying this variation remain poorly understood, and could include a number of ecological and evolutionary processes. A favoured explanation for range size variation is that this result from differences in fundamental niche breadths, suggesting a key role for physiology in determining range size, although to date empirical tests of these ideas remain limited. 2. Here we explore relationships between thermal physiology and biogeography, whilst controlling for possible differences in dispersal ability and phylogenetic relatedness, across 14 ecologically similar congeners which differ in geographical range extent; European diving beetles of the genus Deronectes Sharp (Coleoptera, Dytiscidae). Absolute upper and lower temperature tolerance and acclimatory abilities are determined for populations of each species, following acclimation in the laboratory. 3. Absolute thermal tolerance range is the best predictor of both species' latitudinal range extent and position, differences in dispersal ability (based on wing size) apparently being less important in this group. In addition, species' northern and southern range limits are related to their tolerance of low and high temperatures respectively. In all cases, absolute temperature tolerances, rather than acclimatory abilities are the best predictors of range parameters, whilst the use of independent contrasts suggested that species' thermal acclimation abilities may also relate to biogeography, although increased acclimatory ability does not appear to be associated with increased range size. 4. Our study is the first to provide empirical support for a relationship between thermal physiology and range size variation in widespread and restricted species, conducted using the same experimental design, within a phylogenetically and ecologically controlled framework.

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

    Science.gov (United States)

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

    2016-01-01

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

  6. Home ranges of Ishasha lions: size and location in relation to habitat ...

    African Journals Online (AJOL)

    The sizes of African lion home ranges vary widely but tend to correlate with characteristics of the prey populations (e.g. prey density and preferred prey weight). Lion home ranges should be expected to temporally fluctuate according to changes in prey biomass. Here we quantified and compared the home range sizes of ...

  7. 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

  8. Habitat area and climate stability determine geographical variation in plant species range sizes

    DEFF Research Database (Denmark)

    Morueta-Holme, Naia; Enquist, Brian J.; McGill, Brian J.

    2013-01-01

    Despite being a fundamental aspect of biodiversity, little is known about what controls species range sizes. This is especially the case for hyperdiverse organisms such as plants. We use the largest botanical data set assembled to date to quantify geographical variation in range size for ~85,000 ...... concerns over the potential effects of future climate change and habitat loss on biodiversity.......Despite being a fundamental aspect of biodiversity, little is known about what controls species range sizes. This is especially the case for hyperdiverse organisms such as plants. We use the largest botanical data set assembled to date to quantify geographical variation in range size for ~85...

  9. Home range sizes for burchell's zebra equus burchelli antiquorum from the Kruger National Park

    Directory of Open Access Journals (Sweden)

    G.L. Smuts

    1975-07-01

    Full Text Available Annual home range sizes were determined for 49 marked zebra family groups in the Kruger National Park. Sizes varied from 49 to 566 sq. km, the mean for the Park being 164 square kilometre. Mean home range sizes for different zebra sub-populations and biotic areas were found to differ considerably. Present herbivore densities have not influenced intra- and inter-specific tolerance levels to the extent that home range sizes have increased. Local habitat conditions, and particularly seasonal vegetational changes, were found to have the most profound influence on the shape and mean size of home ranges. The large home range sizes obtained in the Kruger Park, when compared to an area such as the Ngorongoro Crater, can be ascribed to a lower carrying capacity with respect to zebra, large portions of the habitat being sub-optimal, either seasonally or annually.

  10. Sex differences in spatial ability: a test of the range size hypothesis in the order Carnivora

    OpenAIRE

    Perdue, Bonnie M.; Snyder, Rebecca J.; Zhihe, Zhang; Marr, M. Jackson; Maple, Terry L

    2011-01-01

    Sex differences in spatial cognition have been reported for many species ranging from voles to humans. The range size hypothesis predicts that sex differences in spatial ability will only occur in species in which the mating system selects for differential range size. Consistent with this prediction, we observed sex differences in spatial ability in giant pandas, a promiscuous species in which males inhabit larger ranges than females, but did not observe sex differences in Asian small-clawed ...

  11. 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.

  12. Free-Ranging Farm Cats: Home Range Size and Predation on a Livestock Unit In Northwest Georgia

    Science.gov (United States)

    Kitts-Morgan, Susanna E.; Caires, Kyle C.; Bohannon, Lisa A.; Parsons, Elizabeth I.; Hilburn, Katharine A.

    2015-01-01

    This study’s objective was to determine seasonal and diurnal vs. nocturnal home range size, as well as predation for free-ranging farm cats at a livestock unit in Northwest Georgia. Seven adult cats were tracked with attached GPS units for up to two weeks for one spring and two summer seasons from May 2010 through August 2011. Three and five cats were tracked for up to two weeks during the fall and winter seasons, respectively. Feline scat was collected during this entire period. Cats were fed a commercial cat food daily. There was no seasonal effect (P > 0.05) on overall (95% KDE and 90% KDE) or core home range size (50% KDE). Male cats tended (P = 0.08) to have larger diurnal and nocturnal core home ranges (1.09 ha) compared to female cats (0.64 ha). Reproductively intact cats (n = 2) had larger (P cats. Feline scat processing separated scat into prey parts, and of the 210 feline scats collected during the study, 75.24% contained hair. Of these 158 scat samples, 86 contained non-cat hair and 72 contained only cat hair. Other prey components included fragments of bone in 21.43% of scat and teeth in 12.86% of scat. Teeth were used to identify mammalian prey hunted by these cats, of which the Hispid cotton rat (Sigmodon hispidus) was the primary rodent. Other targeted mammals were Peromyscus sp., Sylvilagus sp. and Microtus sp. Invertebrates and birds were less important as prey, but all mammalian prey identified in this study consisted of native animals. While the free-ranging farm cats in this study did not adjust their home range seasonally, sex and reproductive status did increase diurnal and nocturnal home range size. Ultimately, larger home ranges of free-ranging cats could negatively impact native wildlife. PMID:25894078

  13. Survival and home-range size of Northern Spotted Owls in southwestern Oregon

    Science.gov (United States)

    Schilling, Jason W.; Dugger, Katie M.; Anthony, Robert G.

    2013-01-01

    In the Klamath province of southwestern Oregon, Northern Spotted Owls (Strix occidentalis caurina) occur in complex, productive forests that historically supported frequent fires of variable severity. However, little is known about the relationships between Spotted Owl survival and home-range size and the characteristics of fire-prone, mixed-conifer forests of the Klamath province. Thus, the objectives of this study were to estimate monthly survival rates and home-range size in relation to habitat characteristics for Northern Spotted Owls in southwestern Oregon. Home-range size and survival of 15 Northern Spotted Owls was monitored using radiotelemetry in the Ashland Ranger District of the Rogue River–Siskiyou National Forest from September 2006 to October 2008. Habitat classes within Spotted Owl home ranges were characterized using a remote-sensed vegetation map of the study area. Estimates of monthly survival ranged from 0.89 to 1.0 and were positively correlated with the number of late-seral habitat patches and the amount of edge, and negatively correlated with the mean nearest neighbor distance between late-seral habitats. Annual home-range size varied from to 189 to 894 ha ( x =  576; SE  =  75), with little difference between breeding and nonbreeding home ranges. Breeding-season home-range size increased with the amount of hard edge, and the amount of old and mature forest combined. Core area, annual and nonbreeding season home-range sizes all increased with increased amounts of hard edge, suggesting that increased fragmentation is associated with larger core and home-range sizes. Although no effect of the amount of late-seral stage forest on either survival or home-range size was detected, these results are the first to concurrently demonstrate increased forest fragmentation with decreased survival and increased home-range size of Northern Spotted Owls.

  14. Causes and consequences of range size variation: the influence of traits, speciation, and extinction

    Directory of Open Access Journals (Sweden)

    Steven M. Vamosi

    2012-12-01

    Full Text Available The tremendous variation in species richness observed among related clades across the tree of life has long caught the imagination of biologists. Recently, there has been growing attention paid to the possible contribution of range size variation, either alone or in combination with putative key innovations, to these patterns. Here, we review three related topics relevant to range size evolution, speciation, and extinction. First, we provide a brief overview of the debate surrounding patterns and mechanisms for phylogenetic signal in range size. Second, we discuss some recent findings regarding the joint influence of traits and range size on diversification. Finally, we present the preliminary results of a study investigating whether range size is negatively correlated with contemporary extinction risk in flowering plants.

  15. An Update on Using the Range to Estimate σ When Determining Sample Sizes.

    Science.gov (United States)

    Rhiel, George Steven; Markowski, Edward

    2017-04-01

    In this research, we develop a strategy for using a range estimator of σ when determining a sample size for estimating a mean. Previous research by Rhiel is extended to provide dn values for use in calculating a range estimate of σ when working with sampling frames up to size 1,000,000. This allows the use of the range estimator of σ with "big data." A strategy is presented for using the range estimator of σ for determining sample sizes based on the dn values developed in this study.

  16. Linking seasonal home range size with habitat selection and movement in a mountain ungulate.

    Science.gov (United States)

    Viana, Duarte S; Granados, José Enrique; Fandos, Paulino; Pérez, Jesús M; Cano-Manuel, Francisco Javier; Burón, Daniel; Fandos, Guillermo; Aguado, María Ángeles Párraga; Figuerola, Jordi; Soriguer, Ramón C

    2018-01-01

    Space use by animals is determined by the interplay between movement and the environment, and is thus mediated by habitat selection, biotic interactions and intrinsic factors of moving individuals. These processes ultimately determine home range size, but their relative contributions and dynamic nature remain less explored. We investigated the role of habitat selection, movement unrelated to habitat selection and intrinsic factors related to sex in driving space use and home range size in Iberian ibex, Capra pyrenaica . We used GPS collars to track ibex across the year in two different geographical areas of Sierra Nevada, Spain, and measured habitat variables related to forage and roost availability. By using integrated step selection analysis (iSSA), we show that habitat selection was important to explain space use by ibex. As a consequence, movement was constrained by habitat selection, as observed displacement rate was shorter than expected under null selection. Selection-independent movement, selection strength and resource availability were important drivers of seasonal home range size. Both displacement rate and directional persistence had a positive relationship with home range size while accounting for habitat selection, suggesting that individual characteristics and state may also affect home range size. Ibex living at higher altitudes, where resource availability shows stronger altitudinal gradients across the year, had larger home ranges. Home range size was larger in spring and autumn, when ibex ascend and descend back, and smaller in summer and winter, when resources are more stable. Therefore, home range size decreased with resource availability. Finally, males had larger home ranges than females, which might be explained by differences in body size and reproductive behaviour. Movement, selection strength, resource availability and intrinsic factors related to sex determined home range size of Iberian ibex. Our results highlight the need to integrate

  17. Correlates of research effort in carnivores: body size, range size and diet matter.

    Directory of Open Access Journals (Sweden)

    Zoe M Brooke

    Full Text Available Given the budgetary restrictions on scientific research and the increasing need to better inform conservation actions, it is important to identify the patterns and causes of biases in research effort. We combine bibliometric information from a literature review of almost 16,500 peer-reviewed publications on a well-known group of 286 species, the Order Carnivora, with global datasets on species' life history and ecological traits to explore patterns in research effort. Our study explores how species' characteristics influenced the degree to which they were studied (measured as the number of publications. We identified a wide variation in intensity of research effort at both Family and Species levels, with some of the least studied being those which may need protection in future. Our findings hint at the complex role of human perspectives in setting research agendas. We found that better-studied species tended to be large-bodied and have a large geographic range whilst omnivory had a negative relationship with research effort. IUCN threat status did not exhibit a strong relationship with research effort which suggests that the conservation needs of individual species are not major drivers of research interest. This work is the first to use a combination of bibliometric analysis and biological data to quantify and interpret gaps in research knowledge across an entire Order. Our results could be combined with other resources, such as Biodiversity Action Plans, to prioritise and co-ordinate future research effort, whilst our methods can be applied across many scientific disciplines to describe knowledge gaps.

  18. Correlates of research effort in carnivores: body size, range size and diet matter.

    Science.gov (United States)

    Brooke, Zoe M; Bielby, Jon; Nambiar, Kate; Carbone, Chris

    2014-01-01

    Given the budgetary restrictions on scientific research and the increasing need to better inform conservation actions, it is important to identify the patterns and causes of biases in research effort. We combine bibliometric information from a literature review of almost 16,500 peer-reviewed publications on a well-known group of 286 species, the Order Carnivora, with global datasets on species' life history and ecological traits to explore patterns in research effort. Our study explores how species' characteristics influenced the degree to which they were studied (measured as the number of publications). We identified a wide variation in intensity of research effort at both Family and Species levels, with some of the least studied being those which may need protection in future. Our findings hint at the complex role of human perspectives in setting research agendas. We found that better-studied species tended to be large-bodied and have a large geographic range whilst omnivory had a negative relationship with research effort. IUCN threat status did not exhibit a strong relationship with research effort which suggests that the conservation needs of individual species are not major drivers of research interest. This work is the first to use a combination of bibliometric analysis and biological data to quantify and interpret gaps in research knowledge across an entire Order. Our results could be combined with other resources, such as Biodiversity Action Plans, to prioritise and co-ordinate future research effort, whilst our methods can be applied across many scientific disciplines to describe knowledge gaps.

  19. A Macrophysiological Analysis of Energetic Constraints on Geographic Range Size in Mammals

    Science.gov (United States)

    Ceballos, Gerardo; Steele, Michael A.

    2013-01-01

    Physiological processes are essential for understanding the distribution and abundance of organisms, and recently, with widespread attention to climate change, physiology has been ushered back to the forefront of ecological thinking. We present a macrophysiological analysis of the energetics of geographic range size using combined data on body size, basal metabolic rate (BMR), phylogeny and range properties for 574 species of mammals. We propose three mechanisms by which interspecific variation in BMR should relate positively to geographic range size: (i) Thermal Plasticity Hypothesis, (ii) Activity Levels/Dispersal Hypothesis, and (iii) Energy Constraint Hypothesis. Although each mechanism predicts a positive correlation between BMR and range size, they can be further distinguished based on the shape of the relationship they predict. We found evidence for the predicted positive relationship in two dimensions of energetics: (i) the absolute, mass-dependent dimension (BMR) and (ii) the relative, mass-independent dimension (MIBMR). The shapes of both relationships were similar and most consistent with that expected from the Energy Constraint Hypothesis, which was proposed previously to explain the classic macroecological relationship between range size and body size in mammals and birds. The fact that this pattern holds in the MIBMR dimension indicates that species with supra-allometric metabolic rates require among the largest ranges, above and beyond the increasing energy demands that accrue as an allometric consequence of large body size. The relationship is most evident at high latitudes north of the Tropics, where large ranges and elevated MIBMR are most common. Our results suggest that species that are most vulnerable to extinction from range size reductions are both large-bodied and have elevated MIBMR, but also, that smaller species with elevated MIBMR are at heightened risk. We also provide insights into the global latitudinal trends in range size and MIBMR

  20. Heritability of caffeine metabolism

    DEFF Research Database (Denmark)

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

    2016-01-01

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

  1. Sex differences in spatial ability: a test of the range size hypothesis in the order Carnivora.

    Science.gov (United States)

    Perdue, Bonnie M; Snyder, Rebecca J; Zhihe, Zhang; Marr, M Jackson; Maple, Terry L

    2011-06-23

    Sex differences in spatial cognition have been reported for many species ranging from voles to humans. The range size hypothesis predicts that sex differences in spatial ability will only occur in species in which the mating system selects for differential range size. Consistent with this prediction, we observed sex differences in spatial ability in giant pandas, a promiscuous species in which males inhabit larger ranges than females, but did not observe sex differences in Asian small-clawed otters, a related monogamous species in which males and females share home ranges. These results provide the first evidence of sex differences in spatial ability in the order Carnivora, and are consistent with the range size hypothesis.

  2. Fractal geometry predicts varying body size scaling relationships for mammal and bird home ranges

    NARCIS (Netherlands)

    Haskell, John P.; Ritchie, Mark E.; Olff, Han

    2002-01-01

    Scaling laws that describe complex interactions between organisms and their environment as a function of body size offer exciting potential for synthesis in biology. Home range size, or the area used by individual organisms, is a critical ecological variable that integrates behaviour, physiology and

  3. Fractal geometry predicts varying body size scaling relationships for mammal and bird home ranges

    NARCIS (Netherlands)

    Haskell, J.P.; Ritchie, M.E.; Olff, H.

    2002-01-01

    Scaling laws that describe complex interactions between organisms and their environment as a function of body size offer exciting potential for synthesis in biology(1-4). Home range size, or the area used by individual organisms, is a critical ecological variable that integrates behaviour,

  4. The heritability of perceived stress.

    NARCIS (Netherlands)

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

    2006-01-01

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

  5. An analysis of monthly home range size in the critically endangered California Condor Gymnogyps californianus

    Science.gov (United States)

    Rivers, James W.; Johnson, Matthew J.; Haig, Susan M.; Schwarz, Carl J.; Burnett, Joseph; Brandt, Joseph; George, Daniel; Grantham, Jesse

    2014-01-01

    Condors and vultures comprise the only group of terrestrial vertebrates in the world that are obligate scavengers, and these species move widely to locate ephemeral, unpredictable, and patchily-distributed food resources. In this study, we used high-resolution GPS location data to quantify monthly home range size of the critically endangered California Condor Gymnogyps californianus throughout the annual cycle in California. We assessed whether individual-level characteristics (age, sex and breeding status) and factors related to endangered species recovery program efforts (rearing method, release site) were linked to variation in monthly home range size. We found that monthly home range size varied across the annual cycle, with the largest monthly home ranges observed during late summer and early fall (July–October), a pattern that may be linked to seasonal changes in thermals that facilitate movement. Monthly home ranges of adults were significantly larger than those of immatures, but males and females used monthly home ranges of similar size throughout the year and breeding adults did not differ from non-breeding adults in their average monthly home range size. Individuals from each of three release sites differed significantly in the size of their monthly home ranges, and no differences in monthly home range size were detected between condors reared under captive conditions relative to those reared in the wild. Our study provides an important foundation for understanding the movement ecology of the California Condor and it highlights the importance of seasonal variation in space use for effective conservation planning for this critically endangered species.

  6. The Effect of Stimulus Size on the Reliable Stimulus Range of Perimetry.

    Science.gov (United States)

    Gardiner, Stuart K; Demirel, Shaban; Goren, Deborah; Mansberger, Steven L; Swanson, William H

    2015-03-01

    Automated perimetry uses a 3.5 log unit (35dB) range of stimulus contrasts to assess function within the visual field. Using 'Size III' stimuli (0.43°), presenting stimuli within the highest 15dB of available contrast may not increase the response probability at locations damaged by glaucoma, due to retinal ganglion cell response saturation. This experiment examines the effect of instead using 'Size V' (1.72°) stimuli. Luminance increment thresholds for circular spot stimuli of each stimulus size were measured in 35 participants (mean deviation -20.9 to -3.4 dB, ages 52-87) using the method of constant stimuli, at four locations per participant. Frequency-of-seeing curves were fit at each size and location, with three free parameters: mean, standard deviation, and asymptotic maximum response probability. These were used to estimate the contrasts to which each participant would respond on 25% of presentations (c25). Using segmented orthogonal regression, the maximum observed response probabilities for size III stimuli began to decline at c25 = 25.2 dB (95% confidence interval 23.3-29.0 dB from bootstrap resampling). This decline started at similar contrast for the size V stimulus: c25 = 25.0dB (22.0-26.8 dB). Among locations at which the sensitivity was above these split-points for both stimulus sizes, c25 averaged 5.6 dB higher for size V than size III stimuli. The lower limit of the reliable stimulus range did not differ significantly between stimulus sizes. However, more locations remained within the reliable stimulus range when using the size V stimulus. Size V stimuli enable reliable clinical testing later into the glaucomatous disease process.

  7. Prevalence of intraspecific relationships between range size and abundance in Danish birds

    DEFF Research Database (Denmark)

    Borregaard, Michael Krabbe; Rahbek, Carsten

    2006-01-01

    In this study, we investigate patterns in the prevalence of dynamic range-abundance relationships of the Danish avifauna, using breeding bird atlases from 1971 to 1974 and from 1993 to 1996. We focus on differences between common and rare species by dividing the assemblage into range-size quartiles...

  8. Heritability of Choroidal Thickness in the Amish.

    Science.gov (United States)

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

    2016-12-01

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

  9. Home range size variation in female arctic grizzly bears relative to reproductive status and resource availability.

    Science.gov (United States)

    Edwards, Mark A; Derocher, Andrew E; Nagy, John A

    2013-01-01

    The area traversed in pursuit of resources defines the size of an animal's home range. For females, the home range is presumed to be a function of forage availability. However, the presence of offspring may also influence home range size due to reduced mobility, increased nutritional need, and behavioral adaptations of mothers to increase offspring survival. Here, we examine the relationship between resource use and variation in home range size for female barren-ground grizzly bears (Ursus arctos) of the Mackenzie Delta region in Arctic Canada. We develop methods to test hypotheses of home range size that address selection of cover where cover heterogeneity is low, using generalized linear mixed-effects models and an information-theoretic approach. We found that the reproductive status of female grizzlies affected home range size but individually-based spatial availability of highly selected cover in spring and early summer was a stronger correlate. If these preferred covers in spring and early summer, a period of low resource availability for grizzly bears following den-emergence, were patchy and highly dispersed, females travelled farther regardless of the presence or absence of offspring. Increased movement to preferred covers, however, may result in greater risk to the individual or family.

  10. Home range size variation in female arctic grizzly bears relative to reproductive status and resource availability.

    Directory of Open Access Journals (Sweden)

    Mark A Edwards

    Full Text Available The area traversed in pursuit of resources defines the size of an animal's home range. For females, the home range is presumed to be a function of forage availability. However, the presence of offspring may also influence home range size due to reduced mobility, increased nutritional need, and behavioral adaptations of mothers to increase offspring survival. Here, we examine the relationship between resource use and variation in home range size for female barren-ground grizzly bears (Ursus arctos of the Mackenzie Delta region in Arctic Canada. We develop methods to test hypotheses of home range size that address selection of cover where cover heterogeneity is low, using generalized linear mixed-effects models and an information-theoretic approach. We found that the reproductive status of female grizzlies affected home range size but individually-based spatial availability of highly selected cover in spring and early summer was a stronger correlate. If these preferred covers in spring and early summer, a period of low resource availability for grizzly bears following den-emergence, were patchy and highly dispersed, females travelled farther regardless of the presence or absence of offspring. Increased movement to preferred covers, however, may result in greater risk to the individual or family.

  11. Diversification Rates and the Evolution of Species Range Size Frequency Distribution

    Directory of Open Access Journals (Sweden)

    Silvia Castiglione

    2017-11-01

    Full Text Available The geographic range sizes frequency distribution (RFD within clades is typically right-skewed with untransformed data, and bell-shaped or slightly left-skewed under the log-transformation. This means that most species within clades occupy diminutive ranges, whereas just a few species are truly widespread. A number of ecological and evolutionary explanations have been proposed to account for this pattern. Among the latter, much attention has been given to the issue of how extinction and speciation probabilities influence RFD. Numerous accounts now convincingly demonstrate that extinction rate decreases with range size, both in living and extinct taxa. The relationship between range size and speciation rate, though, is much less obvious, with either small or large ranged species being proposed to originate more daughter taxa. Herein, we used a large fossil database including 21 animal clades and more than 80,000 fossil occurrences distributed over more than 400 million years of marine metazoans (exclusive of vertebrates evolution, to test the relationship between extinction rate, speciation rate, and range size. As expected, we found that extinction rate almost linearly decreases with range size. In contrast, speciation rate peaks at the large (but not the largest end of the range size spectrum. This is consistent with the peripheral isolation mode of allopatric speciation being the main mechanism of species origination. The huge variation in phylogeny, fossilization potential, time of fossilization, and the overarching effect of mass extinctions suggest caution must be posed at generalizing our results, as individual clades may deviate significantly from the general pattern.

  12. Mountain gorilla ranging patterns: influence of group size and group dynamics.

    Science.gov (United States)

    Caillaud, Damien; Ndagijimana, Felix; Giarrusso, Anthony J; Vecellio, Veronica; Stoinski, Tara S

    2014-08-01

    Since the 1980s, the Virunga mountain gorilla population has almost doubled, now reaching 480 individuals living in a 430-km(2) protected area. Analysis of the gorillas' ranging patterns can provide critical information on the extent and possible effects of competition for food and space. We analyzed 12 years of daily ranging data and inter-group encounter data collected on 11 gorilla groups monitored by the Karisoke Research Center in Rwanda. During that period, the study population increased in size by almost 50% and the number of groups tripled. Groups had small yearly home ranges compared to other known gorilla populations, with an average 90% kernel density estimate of 8.07 km2 and large between-group variations (3.17-23.59 km2). Most groups had consistent home range location over the course of the study but for some, we observed gradual range shifts of up to 4 km. Neighboring groups displayed high home range overlap, which increased dramatically after the formation of new groups. On average, each group used only 28.6% of its 90% kernel home range exclusively, and in some areas up to six different groups had overlapping home ranges with little or no exclusive areas. We found a significant intra-group positive relationship between the number of weaned individuals in a group and the home range size, but the fitted models only explained 17.5% and 13.7% of the variance in 50% and 90% kernel home range size estimates, respectively. This suggests that despite the increase in size, the study population is not yet experiencing marked effects of feeding competition. However, the increase in home range overlap resulting from the formation of new groups led to a sixfold increase in the frequency of inter-group encounters, which exposes the population to elevated risks of fight-related injuries and infanticide. © 2014 Wiley Periodicals, Inc.

  13. Drosophila Modeling of Heritable Neurodevelopmental Disorders

    OpenAIRE

    Gatto, Cheryl L.; Broadie, Kendal

    2011-01-01

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

  14. Mean latitudinal range sizes of bird assemblages in six Neotropical forest chronosequences

    DEFF Research Database (Denmark)

    Dunn, Robert R.; Romdal, Tom Skovlund

    2005-01-01

    of early successional species was as a result in part of the tendency of early successional species to have ranges that extend beyond the Neotropical forest biome. Conclusions Our analysis of chronosequences suggests that as early successional habitats mature, a consistent shift from large-ranged species...... understood. We examined how the mean latitudinal range sizes of species in Neotropical bird species assemblages shift during forest clearance and subsequent regeneration. We tested the hypothesis that bird species assemblages in early successional habitats tend to have larger latitudinal ranges than those...... in more mature forests. Location We considered breeding bird chronosequence data from six Neotropical forests. Results Breeding bird assemblages were found to have the species with the largest average latitudinal range sizes in cleared areas, intermediate in young secondary forests and smallest in old...

  15. Following Rapoport's Rule: the geographic range and genome size of bacterial taxa decline at warmer latitudes.

    Science.gov (United States)

    Lear, Gavin; Lau, Kelvin; Perchec, Anne-Marie; Buckley, Hannah L; Case, Bradley S; Neale, Martin; Fierer, Noah; Leff, Jonathan W; Handley, Kim M; Lewis, Gillian

    2017-08-01

    We sought to test whether stream bacterial communities conform to Rapoport's Rule, a pattern commonly observed for plants and animals whereby taxa exhibit decreased latitudinal range sizes closer to the equator. Using a DNA sequencing approach, we explored the biogeography of biofilm bacterial communities in 204 streams across a ∼1000 km latitudinal gradient. The range sizes of bacterial taxa were strongly correlated with latitude, decreasing closer to the equator, which coincided with a greater than fivefold increase in bacterial taxonomic richness. The relative richness and range size of bacteria were associated with spatially correlated variation in temperature and rainfall. These patterns were observed despite enormous variability in catchment environmental characteristics. Similar results were obtained when restricting the same analyses to native forest catchments, thereby controlling for spatial biases in land use. We analysed genomic data from ∼500 taxa detected in this study, for which data were available and found that bacterial communities at cooler latitudes also tended to possess greater potential metabolic potential. Collectively, these data provide the first evidence of latitudinal variation in the range size distributions of freshwater bacteria, a trend which may be determined, in part, by a trade-off between bacterial genome size and local variation in climatic conditions. © 2017 Society for Applied Microbiology and John Wiley & Sons Ltd.

  16. The size and range effect: lifecycle greenhouse gas emissions of electric vehicles

    Science.gov (United States)

    Ager-Wick Ellingsen, Linda; Singh, Bhawna; Hammer Strømman, Anders

    2016-05-01

    The primary goal of this study is to investigate the effect of increasing battery size and driving range to the environmental impact of electric vehicles (EVs). To this end, we compile cradle-to-grave inventories for EVs in four size segments to determine their climate change potential. A second objective is to compare the lifecycle emissions of EVs to those of conventional vehicles. For this purpose, we collect lifecycle emissions for conventional vehicles reported by automobile manufacturers. The lifecycle greenhouse gas emissions are calculated per vehicle and over a total driving range of 180 000 km using the average European electricity mix. Process-based attributional LCA and the ReCiPe characterisation method are used to estimate the climate change potential from the hierarchical perspective. The differently sized EVs are compared to one another to find the effect of increasing the size and range of EVs. We also point out the sources of differences in lifecycle emissions between conventional- and electric vehicles. Furthermore, a sensitivity analysis assesses the change in lifecycle emissions when electricity with various energy sources power the EVs. The sensitivity analysis also examines how the use phase electricity sources influences the size and range effect.

  17. Evolutionary patterns of range size, abundance and species richness in Amazonian angiosperm trees

    Directory of Open Access Journals (Sweden)

    Kyle Dexter

    2016-09-01

    Full Text Available Amazonian tree species vary enormously in their total abundance and range size, while Amazonian tree genera vary greatly in species richness. The drivers of this variation are not well understood. Here, we construct a phylogenetic hypothesis that represents half of Amazonian tree genera in order to contribute to explaining the variation. We find several clear, broad-scale patterns. Firstly, there is significant phylogenetic signal for all three characteristics; closely related genera tend to have similar numbers of species and similar mean range size and abundance. Additionally, the species richness of genera shows a significant, negative relationship with the mean range size and abundance of their constituent species. Our results suggest that phylogenetically correlated intrinsic factors, namely traits of the genera themselves, shape among lineage variation in range size, abundance and species richness. We postulate that tree stature may be one particularly relevant trait. However, other traits may also be relevant, and our study reinforces the need for ambitious compilations of trait data for Amazonian trees. In the meantime, our study shows how large-scale phylogenies can help to elucidate, and contribute to explaining, macroecological and macroevolutionary patterns in hyperdiverse, yet poorly understood regions like the Amazon Basin.

  18. An Improved Method for Including Upper Size Range Plasmids in Metamobilomes

    DEFF Research Database (Denmark)

    Norman, Anders; Riber, Leise; Luo, Wenting

    2014-01-01

    cloning vector (pBR322), and a 56 Kbp conjugative plasmid (pKJK10), to represent lower- and upper plasmid size ranges, respectively. Subjecting a mixture of these plasmids to the overall isolation protocol revealed a 34-fold over-amplification of pBR322 after MDA. To address this bias, we propose...... the addition of an electroelution step that separates different plasmid size ranges prior to MDA in order to reduce size-dependent competition during incubation. Subsequent analyses of metamobilome data from wastewater spiked with the model plasmids showed in silica recovery of pKJK10 to be very poor...... with the established method and a 1,300-fold overrepresentation of pBR322. Conversely, complete recovery of pKJK10 was enabled with the new modified protocol although considerable care must be taken during electroelution to minimize cross-contamination between samples. For further validation, non-spiked wastewater...

  19. Negative range size-abundance relationships in Indo-Pacific bird communities

    DEFF Research Database (Denmark)

    Hart Reeve, Andrew; Borregaard, Michael Krabbe; Fjeldså, Jon

    2016-01-01

    and environmental stability create selection pressures that favor narrowly specialized species, which could drive these non-positive relationships. To test this idea, we measured the range size-abundance relationships of eleven bird communities in mature and degraded forest on four islands in the Indo...... the evolution of species that are simultaneously broad-niched, small-ranged, and abundant, as water barriers limit the range expansions that would typically accompany species' attainment of high local population densities. The consistently negative relationships found across Indo-Pacific islands represent...

  20. Determining the dynamic range of MCPs based on pore size and strip current

    Science.gov (United States)

    Hunt, C.; Adrian, M. L.; Herrero, F.; James, P.; Jones, H. H.; Rodriguez, M.; Roman, P.; Shappirio, M.

    2010-12-01

    Micro-Channel Plates (MCPs) are used as detectors for almost all detectors measuring particles (both ions, electrons and neutrals) below 30 keV. Recent advances in the manufacturing technology of the MCPs have increased the number of options one has when selecting plates for an instrument. But it is not clear how many of these options affect the performance of the MCPs. In particular the dynamic range is not a clear cut calculation to make from the strip current. There is also some evidence that pore size and coating play a role. We measured the dynamic range and pulse height distribution of MCPs detector chevron stacks with a wide variety of strip currents from the low “normal” range in the EDR range. We also looked at the effects of varying the pore size from 25 microns to 10 microns, partial plating of the MCP surface and coating one surface on each MCP with gold rather than the standard zinc chromium. We will show how the dynamic range and pulse height distributions vary vs. strip current, pore size, and surface plating configurations.

  1. Penetration of nanoparticles in 5 nm to 400 nm size range through two selected fibrous media

    Science.gov (United States)

    Brochot, C.; Mouret, G.; Michielsen, N.; Chazelet, S.; Thomas, D.

    2011-07-01

    Due to the strong development of nanotechnologies, ultrafine particles could represent a growing hazard for workers health. When it is not possible to reduce the risk at its source, filtration systems are one of the means used to limit the exposure to hazardous substances such as airborne particles. The aim of this study is to measure the penetration of nanoparticles on a very large diameter range, from the nanometer size to the most penetrating particle size (MPPS). Here we present experimental results obtained for three different types of nanoparticles. Measurements of nanoparticle penetration through two low efficiency fiberglass media are carried out using two test benches presented in this article. Penetration values for carbon, copper and NaCl nanoparticles decreases with particle size, as predicted by theory. The value of the most penetrating particle size is situated between 100 and 300 nm. No thermal rebound was observed in this particle size range. The penetration values will be used, in further studies, to determine a global penetration model.

  2. Penetration of nanoparticles in 5 nm to 400 nm size range through two selected fibrous media

    Energy Technology Data Exchange (ETDEWEB)

    Brochot, C; Michielsen, N [Aerosol Physics and Metrology Laboratory, Institute for Radiological Protection and Nuclear Safety, BP68 - 91192, Gif-sur-Yvette Cedex (France); Mouret, G; Thomas, D [Laboratoire Reactions et Genie des Procedes, Nancy Universite, BP 20451 - 54001 Nancy (France); Chazelet, S, E-mail: clothilde.brochot@irsn.fr [Laboratory of polluant and air cleaning process, National Institute for Occupational Safety and Health, Rue du Morvan CS 60027 - 54519 Vandoeuvre Les Nancy (France)

    2011-07-06

    Due to the strong development of nanotechnologies, ultrafine particles could represent a growing hazard for workers health. When it is not possible to reduce the risk at its source, filtration systems are one of the means used to limit the exposure to hazardous substances such as airborne particles. The aim of this study is to measure the penetration of nanoparticles on a very large diameter range, from the nanometer size to the most penetrating particle size (MPPS). Here we present experimental results obtained for three different types of nanoparticles. Measurements of nanoparticle penetration through two low efficiency fiberglass media are carried out using two test benches presented in this article. Penetration values for carbon, copper and NaCl nanoparticles decreases with particle size, as predicted by theory. The value of the most penetrating particle size is situated between 100 and 300 nm. No thermal rebound was observed in this particle size range. The penetration values will be used, in further studies, to determine a global penetration model.

  3. 8Wambi heritability.pmd

    African Journals Online (AJOL)

    ACSS

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

  4. An improved method for including upper size range plasmids in metamobilomes.

    Directory of Open Access Journals (Sweden)

    Anders Norman

    Full Text Available Two recently developed isolation methods have shown promise when recovering pure community plasmid DNA (metamobilomes/plasmidomes, which is useful in conducting culture-independent investigations into plasmid ecology. However, both methods employ multiple displacement amplification (MDA to ensure suitable quantities of plasmid DNA for high-throughput sequencing. This study demonstrates that MDA greatly favors smaller circular DNA elements (10 Kbp. Throughout the study, we used two model plasmids, a 4.4 Kbp cloning vector (pBR322, and a 56 Kbp conjugative plasmid (pKJK10, to represent lower- and upper plasmid size ranges, respectively. Subjecting a mixture of these plasmids to the overall isolation protocol revealed a 34-fold over-amplification of pBR322 after MDA. To address this bias, we propose the addition of an electroelution step that separates different plasmid size ranges prior to MDA in order to reduce size-dependent competition during incubation. Subsequent analyses of metamobilome data from wastewater spiked with the model plasmids showed in silica recovery of pKJK10 to be very poor with the established method and a 1,300-fold overrepresentation of pBR322. Conversely, complete recovery of pKJK10 was enabled with the new modified protocol although considerable care must be taken during electroelution to minimize cross-contamination between samples. For further validation, non-spiked wastewater metamobilomes were mapped to more than 2,500 known plasmid genomes. This displayed an overall recovery of plasmids well into the upper size range (median size: 30 kilobases with the modified protocol. Analysis of de novo assembled metamobilome data also suggested distinctly better recovery of larger plasmids, as gene functions associated with these plasmids, such as conjugation, was exclusively encoded in the data output generated through the modified protocol. Thus, with the suggested modification, access to a large uncharacterized pool of

  5. High throughput holographic imaging-in-flow for the analysis of a wide plankton size range.

    Science.gov (United States)

    Yourassowsky, Catherine; Dubois, Frank

    2014-03-24

    We developed a Digital Holographic Microscope (DHM) working with a partial coherent source specifically adapted to perform high throughput recording of holograms of plankton organisms in-flow, in a size range of 3 µm-300 µm, which is of importance for this kind of applications. This wide size range is achieved with the same flow cell and with the same microscope magnification. The DHM configuration combines a high magnification with a large field of view and provides high-resolution intensity and quantitative phase images refocusing on high sample flow rate. Specific algorithms were developed to detect and extract automatically the particles and organisms present in the samples in order to build holograms of each one that are used for holographic refocusing and quantitative phase contrast imaging. Experimental results are shown and discussed.

  6. Heritability of neck pain

    DEFF Research Database (Denmark)

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

    2006-01-01

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

  7. Partitioning heritability by functional category using GWAS summary statistics

    DEFF Research Database (Denmark)

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

    2015-01-01

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

  8. Estimating the sample mean and standard deviation from the sample size, median, range and/or interquartile range.

    Science.gov (United States)

    Wan, Xiang; Wang, Wenqian; Liu, Jiming; Tong, Tiejun

    2014-12-19

    In systematic reviews and meta-analysis, researchers often pool the results of the sample mean and standard deviation from a set of similar clinical trials. A number of the trials, however, reported the study using the median, the minimum and maximum values, and/or the first and third quartiles. Hence, in order to combine results, one may have to estimate the sample mean and standard deviation for such trials. In this paper, we propose to improve the existing literature in several directions. First, we show that the sample standard deviation estimation in Hozo et al.'s method (BMC Med Res Methodol 5:13, 2005) has some serious limitations and is always less satisfactory in practice. Inspired by this, we propose a new estimation method by incorporating the sample size. Second, we systematically study the sample mean and standard deviation estimation problem under several other interesting settings where the interquartile range is also available for the trials. We demonstrate the performance of the proposed methods through simulation studies for the three frequently encountered scenarios, respectively. For the first two scenarios, our method greatly improves existing methods and provides a nearly unbiased estimate of the true sample standard deviation for normal data and a slightly biased estimate for skewed data. For the third scenario, our method still performs very well for both normal data and skewed data. Furthermore, we compare the estimators of the sample mean and standard deviation under all three scenarios and present some suggestions on which scenario is preferred in real-world applications. In this paper, we discuss different approximation methods in the estimation of the sample mean and standard deviation and propose some new estimation methods to improve the existing literature. We conclude our work with a summary table (an Excel spread sheet including all formulas) that serves as a comprehensive guidance for performing meta-analysis in different

  9. Home range size and choice of management strategy for lynx in Scandinavia.

    Science.gov (United States)

    Linnell, J D; Andersen, R; Kvam, T; Andrén, H; Liberg, O; Odden, J; Moa, P F

    2001-06-01

    Annual and seasonal home ranges were calculated for 47 Eurasian lynx in four Scandinavian study sites (two in Sweden and two in Norway). The observed home ranges were the largest reported for the species, with study site averages ranging from 600 to 1,400 km2 for resident males and from 300 to 800 km2 for resident females. When home range sizes were compared to the size of protected areas (national parks and nature reserves) in Scandinavia, it was concluded that very few protected areas contained sufficient forest to provide space for more than a few individuals. As a direct consequence of this, most lynx need to be conserved in the multiuse semi-natural forest habitats that cover large areas in Scandinavia. This conservation strategy leads to a number of conflicts with some land uses (sheep and semidomestic reindeer herding, and roe deer hunters), but not all (forestry and moose harvest). Accordingly research must be aimed at understanding the ecology of these conflicts, and finding solutions.

  10. Heritability of OSA in a Rural Population.

    Science.gov (United States)

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

    2016-01-01

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

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

    Science.gov (United States)

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

    2013-11-01

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

  12. Density-dependent home-range size revealed by spatially explicit capture–recapture

    Science.gov (United States)

    Efford, M.G.; Dawson, Deanna K.; Jhala, Y.V.; Qureshi, Q.

    2016-01-01

    The size of animal home ranges often varies inversely with population density among populations of a species. This fact has implications for population monitoring using spatially explicit capture–recapture (SECR) models, in which both the scale of home-range movements σ and population density D usually appear as parameters, and both may vary among populations. It will often be appropriate to model a structural relationship between population-specific values of these parameters, rather than to assume independence. We suggest re-parameterizing the SECR model using kp = σp √Dp, where kp relates to the degree of overlap between home ranges and the subscript p distinguishes populations. We observe that kp is often nearly constant for populations spanning a range of densities. This justifies fitting a model in which the separate kp are replaced by the single parameter k and σp is a density-dependent derived parameter. Continuous density-dependent spatial variation in σ may also be modelled, using a scaled non-Euclidean distance between detectors and the locations of animals. We illustrate these methods with data from automatic photography of tigers (Panthera tigris) across India, in which the variation is among populations, from mist-netting of ovenbirds (Seiurus aurocapilla) in Maryland, USA, in which the variation is within a single population over time, and from live-trapping of brushtail possums (Trichosurus vulpecula) in New Zealand, modelling spatial variation within one population. Possible applications and limitations of the methods are discussed. A model in which kp is constant, while density varies, provides a parsimonious null model for SECR. The parameter k of the null model is a concise summary of the empirical relationship between home-range size and density that is useful in comparative studies. We expect deviations from this model, particularly the dependence of kp on covariates, to be biologically interesting.

  13. Influence of the particle size on polarization-based range-gated imaging in turbid media

    Directory of Open Access Journals (Sweden)

    Heng Tian

    2017-09-01

    Full Text Available The influence of size of the scatterer on the image contrast for polarization-based range-gated imaging in turbid media is investigated here by Monte Carlo method. Circularly polarized light would be more efficient to eliminate the noise photons for both the isotropic medium as well as the anisotropic medium, as compared with linearly polarized light. The improvement in contrast is pronounced for isotropic medium using either linear or circular polarization. The plausible explanations for these observations are also presented.

  14. SNP based heritability estimation using a Bayesian approach

    DEFF Research Database (Denmark)

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

    2013-01-01

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

  15. Microhabitat selection, demography, and correlates of home range size for the King Rail (Rallus elegans)

    Science.gov (United States)

    Pickens, Bradley A.; King, Sammy L.

    2013-01-01

    Animal movements and habitat selection within the home range, or microhabitat selection, can provide insights into habitat requirements, such as foraging and area requirements. The King Rail (Rallus elegans) is a wetland bird of high conservation concern in the United States, but little is known about its movements, habitats, or demography. King Rails (n = 34) were captured during the 2010–2011 breeding seasons in the coastal marshes of southwest Louisiana and southeast Texas. Radio telemetry and direct habitat surveys of King Rail locations were conducted to estimate home ranges and microhabitat selection. Within home ranges, King Rails selected for greater plant species richness and comparatively greater coverage of Phragmites australis, Typha spp., and Schoenoplectus robustus. King Rails were found closer to open water compared to random locations placed 50 m from King Rail locations. Home ranges (n = 22) varied from 0.8–32.8 ha and differed greatly among sites. Home range size did not vary by year or sex; however, increased open water, with a maximum of 29% observed in the study, was correlated with smaller home ranges. Breeding season cumulative survivorship was 89% ± 22% in 2010 and 61% ± 43% in 2011, which coincided with a drought. With an equal search effort, King Rail chicks and juveniles observed in May-June decreased from 110 in 2010 to only 16 in the drier year of 2011. The findings show King Rail used marsh with ≤ 29% open water and had smaller home ranges when open water was more abundant.

  16. Home-range Size and Habitat Used by the Northern Myotis (Myotis septentrionalis)

    Science.gov (United States)

    Owen, S.F.; Menzel, M.A.; Ford, W.M.; Chapman, B.R.; Miller, K.V.; Edwards, J.W.; Wood, P.B.

    2003-01-01

    We examined home range size and habitat use of nine female northern myotis (Myotis septentrionalis) within an intensively managed forest in the central Appalachians of West Virginia. Using the 95% adaptive kernel method, we calculated a mean home range of 65 ha. Northern myotis used recent diameter-limit harvests and road corridors more than expected based on availability of these habitats. Intact forest stands and more open deferment harvested stands were used less than expected based on the availability of these habitats, although intact forest stands still constituted the overall majority of habitat used. Partial timber harvests that leave a relatively closed canopy appear to promote or improve northern myotis foraging habitat in heavily forested landscapes. However, the long-term ecological impacts on bats and other biota from this silviculturally unacceptable practice are unclear.

  17. Heritable Disorders of Connective Tissue

    Science.gov (United States)

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

  18. Pregnancy failure and heritable thrombophilia

    NARCIS (Netherlands)

    Middeldorp, Saskia

    2007-01-01

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

  19. Spatial Autocorrelation Can Generate Stronger Correlations between Range Size and Climatic Niches Than the Biological Signal - A Demonstration Using Bird and Mammal Range Maps.

    Science.gov (United States)

    Boucher-Lalonde, Véronique; Currie, David J

    2016-01-01

    Species' geographic ranges could primarily be physiological tolerances drawn in space. Alternatively, geographic ranges could be only broadly constrained by physiological climatic tolerances: there could generally be much more proximate constraints on species' ranges (dispersal limitation, biotic interactions, etc.) such that species often occupy a small and unpredictable subset of tolerable climates. In the literature, species' climatic tolerances are typically estimated from the set of conditions observed within their geographic range. Using this method, studies have concluded that broader climatic niches permit larger ranges. Similarly, other studies have investigated the biological causes of incomplete range filling. But, when climatic constraints are measured directly from species' ranges, are correlations between species' range size and climate necessarily consistent with a causal link? We evaluated the extent to which variation in range size among 3277 bird and 1659 mammal species occurring in the Americas is statistically related to characteristics of species' realized climatic niches. We then compared how these relationships differed from the ones expected in the absence of a causal link. We used a null model that randomizes the predictor variables (climate), while retaining their broad spatial autocorrelation structure, thereby removing any causal relationship between range size and climate. We found that, although range size is strongly positively related to climatic niche breadth, range filling and, to a lesser extent, niche position in nature, the observed relationships are not always stronger than expected from spatial autocorrelation alone. Thus, we conclude that equally strong relationships between range size and climate would result from any processes causing ranges to be highly spatially autocorrelated.

  20. Spatial Autocorrelation Can Generate Stronger Correlations between Range Size and Climatic Niches Than the Biological Signal — A Demonstration Using Bird and Mammal Range Maps

    Science.gov (United States)

    Boucher-Lalonde, Véronique; Currie, David J.

    2016-01-01

    Species’ geographic ranges could primarily be physiological tolerances drawn in space. Alternatively, geographic ranges could be only broadly constrained by physiological climatic tolerances: there could generally be much more proximate constraints on species’ ranges (dispersal limitation, biotic interactions, etc.) such that species often occupy a small and unpredictable subset of tolerable climates. In the literature, species’ climatic tolerances are typically estimated from the set of conditions observed within their geographic range. Using this method, studies have concluded that broader climatic niches permit larger ranges. Similarly, other studies have investigated the biological causes of incomplete range filling. But, when climatic constraints are measured directly from species’ ranges, are correlations between species’ range size and climate necessarily consistent with a causal link? We evaluated the extent to which variation in range size among 3277 bird and 1659 mammal species occurring in the Americas is statistically related to characteristics of species’ realized climatic niches. We then compared how these relationships differed from the ones expected in the absence of a causal link. We used a null model that randomizes the predictor variables (climate), while retaining their broad spatial autocorrelation structure, thereby removing any causal relationship between range size and climate. We found that, although range size is strongly positively related to climatic niche breadth, range filling and, to a lesser extent, niche position in nature, the observed relationships are not always stronger than expected from spatial autocorrelation alone. Thus, we conclude that equally strong relationships between range size and climate would result from any processes causing ranges to be highly spatially autocorrelated. PMID:27855201

  1. Home range sizes of Cape Mountain Zebras Equus Zebra Zebra in the Mountain Zebra National Park

    OpenAIRE

    Penzhorn, B.L.

    1982-01-01

    The mean home range size of Cape mountain zebra breeding herds was 9,4 km2 (range 3,1 @ 16,0 km2). In two herds which split up, the home ranges of the resultant herds included the original home ranges, but were larger.

  2. Dependence of simulations of long range transport on meteorology, model and dust size

    Science.gov (United States)

    Mahowald, N. M.; Albani, S.; Smith, M.; Losno, R.; Marticorena, B.; Ridley, D. A.; Heald, C. L.; Qu, Z.

    2015-12-01

    Mineral aerosols interact with radiation directly, as well as modifying climate, and provide important micronutrients to ocean and land ecosystems. Mineral aerosols are transported long distances from the source regions to remote regions, but the rates at which this occurs can be difficult to deduce from either observations or models. Here we consider interactions between the details of the simulation of dust size and long-range transport. In addition, we compare simulations of dust using multiple reanalysis datasets, as well as different model basis to understand how robust the mean, seasonality and interannual variability are in models. Models can provide insight into how long observations are required in order to characterize the atmospheric concentration and deposition to remote regions.

  3. Finite-size effects on long-range correlations: implications for analyzing DNA sequences

    Science.gov (United States)

    Buldyrev, S. V.; Goldberger, A. L.; Havlin, S.; Simons, M.; Stanley, H. E.

    1993-01-01

    We analyze the fluctuations in the correlation exponents obtained for noncoding DNA sequences. We find prominent sample-to-sample variations as well as variations within a single sample in the scaling exponent. To determine if these fluctuations may result from finite system size, we generate correlated random sequences of comparable length and study the fluctuations in this control system. We find that the DNA exponent fluctuations are consistent with those obtained from the control sequences having long-range power-law correlations. Finally, we compare our exponents for the DNA sequences with the exponents obtained from power-spectrum analysis and correlation-function techniques, and demonstrate that the original "DNA-walk" method is intrinsically more accurate due to reduced noise.

  4. Influences of landscape heterogeneity on home-range sizes of brown bears

    Science.gov (United States)

    Mangipane, Lindsey S.; Belant, Jerrold L.; Hiller, Tim L.; Colvin, Michael E.; Gustine, David; Mangipane, Buck A.; Hilderbrand, Grant

    2018-01-01

    Animal space use is influenced by many factors and can affect individual survival and fitness. Under optimal foraging theory, individuals use landscapes to optimize high-quality resources while minimizing the amount of energy used to acquire them. The spatial resource variability hypothesis states that as patchiness of resources increases, individuals use larger areas to obtain the resources necessary to meet energetic requirements. Additionally, under the temporal resource variability hypothesis, seasonal variation in available resources can reduce distances moved while providing a variety of food sources. Our objective was to determine if seasonal home ranges of brown bears (Ursus arctos) were influenced by temporal availability and spatial distribution of resources and whether individual reproductive status, sex, or size (i.e., body mass) mediated space use. To test our hypotheses, we radio collared brown bears (n = 32 [9 male, 23 female]) in 2014–2016 and used 18 a prioriselected linear models to evaluate seasonal utilization distributions (UD) in relation to our hypotheses. Our top-ranked model by AICc, supported the spatial resource variability hypothesis and included percentage of like adjacency (PLADJ) of all cover types (P  0.17 for males, solitary females, and females with dependent young), and body mass (kg; P = 0.66). Based on this model, for every percentage increase in PLADJ, UD area was predicted to increase 1.16 times for all sex and reproductive classes. Our results suggest that landscape heterogeneity influences brown bear space use; however, we found that bears used larger areas when landscape homogeneity increased, presumably to gain a diversity of food resources. Our results did not support the temporal resource variability hypothesis, suggesting that the spatial distribution of food was more important than seasonal availability in relation to brown bear home range size.

  5. Variation in home range size of red foxes Vulpes vulpes along a gradient of productivity and human landscape alteration

    Science.gov (United States)

    2017-01-01

    Home range size is a fundamental concept for understanding animal dispersion and ecological needs, and it is one of the most commonly reported ecological attributes of free-ranging mammals. Previous studies indicate that red foxes Vulpes vulpes display great variability in home range size. Yet, there has been little consensus regarding the reasons why home range sizes of red foxes vary so extensively. In this study, we examine possible causes of variation in red fox home range sizes using data from 52 GPS collared red foxes from four study areas representing a gradient of landscape productivity and human landscape alteration in Norway and Sweden. Using 90% Local Convex Hull home range estimates, we examined how red fox home range size varied in relation to latitude, elevation, vegetation zone, proportion of agricultural land and human settlement within a home range, and sex and age. We found considerable variation in red fox home range sizes, ranging between 0.95 km2 to 44 km2 (LoCoH 90%) and 2.4 km2 to 358 km2 (MCP 100%). Elevation, proportion of agricultural land and sex accounted for 50% of the variation in home range size found amongst foxes, with elevation having the strongest effect. Red foxes residing in more productive landscapes (those in more southern vegetation zones), had home ranges approximately four times smaller than the home ranges of foxes in the northern boreal vegetation zone. Our results indicate that home range size was influenced by a productivity gradient at both the landscape (latitude) and the local (elevation) scale. The influence of the proportion of agriculture land on home range size of foxes illustrates how human landscape alteration can affect the space use and distribution of red foxes. Further, the variation in home range size found in this study demonstrates the plasticity of red foxes to respond to changing human landscape alteration as well as changes in landscape productivity, which may be contributing to red fox population

  6. Latitudinal clines in Drosophila melanogaster: body size, allozyme ...

    Indian Academy of Sciences (India)

    Unknown

    tions has a heritable component, but not which genes contribute to such genetic differences in body size. In D. melanogaster, not only body size but many other traits, ranging from wing shape to molecular chaperones, ...... apparently complex role of genes, such as those involved in insulin signalling, in the control of insect.

  7. Predictable variation of range-sizes across an extreme environmental gradient in a lizard adaptive radiation: evolutionary and ecological inferences.

    Directory of Open Access Journals (Sweden)

    Daniel Pincheira-Donoso

    Full Text Available Large-scale patterns of current species geographic range-size variation reflect historical dynamics of dispersal and provide insights into future consequences under changing environments. Evidence suggests that climate warming exerts major damage on high latitude and elevation organisms, where changes are more severe and available space to disperse tracking historical niches is more limited. Species with longer generations (slower adaptive responses, such as vertebrates, and with restricted distributions (lower genetic diversity, higher inbreeding in these environments are expected to be particularly threatened by warming crises. However, a well-known macroecological generalization (Rapoport's rule predicts that species range-sizes increase with increasing latitude-elevation, thus counterbalancing the impact of climate change. Here, I investigate geographic range-size variation across an extreme environmental gradient and as a function of body size, in the prominent Liolaemus lizard adaptive radiation. Conventional and phylogenetic analyses revealed that latitudinal (but not elevational ranges significantly decrease with increasing latitude-elevation, while body size was unrelated to range-size. Evolutionarily, these results are insightful as they suggest a link between spatial environmental gradients and range-size evolution. However, ecologically, these results suggest that Liolaemus might be increasingly threatened if, as predicted by theory, ranges retract and contract continuously under persisting climate warming, potentially increasing extinction risks at high latitudes and elevations.

  8. Heritability in inflammatory bowel disease

    DEFF Research Database (Denmark)

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

    2015-01-01

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

  9. Physiological, ecological, and behavioural correlates of the size of the geographic ranges of sea kraits (Laticauda; Elapidae, Serpentes): A critique

    Science.gov (United States)

    Heatwole, Harold; Lillywhite, Harvey; Grech, Alana

    2016-09-01

    Recent, more accurate delineation of the distributions of sea kraits and prior dubious use of proxy temperatures and mean values in correlative studies requires re-assessment of the relationships of temperature and salinity as determinants of the size of the geographic ranges of sea kraits. Correcting the sizes of geographic ranges resolved the paradox of lack of correspondence of size of range with degree of terrestrialism, but did not form a definitive test of the theory. Recent ecological, physiological, and behavioural studies provide an example of the kind of approach likely to either validate or refute present theory.

  10. A linear piezoelectric stepper motor with submicrometer step size and centimeter travel range.

    Science.gov (United States)

    Judy, J W; Polla, D L; Robbins, W P

    1990-01-01

    A linear stepper motor capable of submicrometer controlled movement has been constructed using the piezoelectric material lead zirconate titanate (PZT). This motor consists of a 25.4-mmx12.7-mmx1.6-mm piezoelectric driving element connected between a glider base and an attached load. The device is inset in a trench to constrain motion to one dimension. An electrode on the bottom of the glider is used with an electrode on the top of the trench to implement an electrostatic clamp. This clamp enables the stepper motor to climb slopes of up to 12 degrees , whereas without the clamp only slopes of 6 degrees or less are tolerated. A linear inertial sliding motion can be achieved by expanding and contracting the piezoelectric bar, but the addition of the electrostatic clamp enhances the movement capabilities of the glider by the periodic clamping and unclamping of the glider. Glider velocities of 5.7-476 mum/s are measured by timing the movement of the glider over a 1.0-mm portion of the track through an optical microscope. Displacement steps of 0.07-1.1 mum are calculated by dividing the measured glider velocity by the frequency of the applied voltage pulses. Displacement step size and glider velocity are controlled by the application of PZT extension voltages ranging from +/-(60-340) V.

  11. Drosophila modeling of heritable neurodevelopmental disorders.

    Science.gov (United States)

    Gatto, Cheryl L; Broadie, Kendal

    2011-12-01

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

  12. Performance of diethylene glycol-based particle counters in the sub-3 nm size range

    CERN Document Server

    Wimmer, D; Franchin, A; Kangasluoma, J; Kreissl, F; Kürten, A; Kupc, A; Metzger, A; Mikkilä, J; Petäjä, J; Riccobono, F; Vanhanen, J; Kulmala, M; Curtius, J

    2013-01-01

    When studying new particle formation, the uncertainty in determining the "true" nucleation rate is considerably reduced when using condensation particle counters (CPCs) capable of measuring concentrations of aerosol particles at sizes close to or even at the critical cluster size (1–2 nm). Recently, CPCs able to reliably detect particles below 2 nm in size and even close to 1 nm became available. Using these instruments, the corrections needed for calculating nucleation rates are substantially reduced compared to scaling the observed formation rate to the nucleation rate at the critical cluster size. However, this improved instrumentation requires a careful characterization of their cut-off size and the shape of the detection efficiency curve because relatively small shifts in the cut-off size can translate into larger relative errors when measuring particles close to the cut-off size. Here we describe the development of two continuous-flow CPCs using diethylene glycol (DEG) as the working fluid. The desig...

  13. Whitebark pine, population density, and home-range size of grizzly bears in the greater yellowstone ecosystem.

    Directory of Open Access Journals (Sweden)

    Daniel D Bjornlie

    Full Text Available Changes in life history traits of species can be an important indicator of potential factors influencing populations. For grizzly bears (Ursus arctos in the Greater Yellowstone Ecosystem (GYE, recent decline of whitebark pine (WBP; Pinus albicaulis, an important fall food resource, has been paired with a slowing of population growth following two decades of robust population increase. These observations have raised questions whether resource decline or density-dependent processes may be associated with changes in population growth. Distinguishing these effects based on changes in demographic rates can be difficult. However, unlike the parallel demographic responses expected from both decreasing food availability and increasing population density, we hypothesized opposing behavioral responses of grizzly bears with regard to changes in home-range size. We used the dynamic changes in food resources and population density of grizzly bears as a natural experiment to examine hypotheses regarding these potentially competing influences on grizzly bear home-range size. We found that home-range size did not increase during the period of whitebark pine decline and was not related to proportion of whitebark pine in home ranges. However, female home-range size was negatively associated with an index of population density. Our data indicate that home-range size of grizzly bears in the GYE is not associated with availability of WBP, and, for female grizzly bears, increasing population density may constrain home-range size.

  14. Whitebark pine, population density, and home-range size of grizzly bears in the greater yellowstone ecosystem.

    Science.gov (United States)

    Bjornlie, Daniel D; Van Manen, Frank T; Ebinger, Michael R; Haroldson, Mark A; Thompson, Daniel J; Costello, Cecily M

    2014-01-01

    Changes in life history traits of species can be an important indicator of potential factors influencing populations. For grizzly bears (Ursus arctos) in the Greater Yellowstone Ecosystem (GYE), recent decline of whitebark pine (WBP; Pinus albicaulis), an important fall food resource, has been paired with a slowing of population growth following two decades of robust population increase. These observations have raised questions whether resource decline or density-dependent processes may be associated with changes in population growth. Distinguishing these effects based on changes in demographic rates can be difficult. However, unlike the parallel demographic responses expected from both decreasing food availability and increasing population density, we hypothesized opposing behavioral responses of grizzly bears with regard to changes in home-range size. We used the dynamic changes in food resources and population density of grizzly bears as a natural experiment to examine hypotheses regarding these potentially competing influences on grizzly bear home-range size. We found that home-range size did not increase during the period of whitebark pine decline and was not related to proportion of whitebark pine in home ranges. However, female home-range size was negatively associated with an index of population density. Our data indicate that home-range size of grizzly bears in the GYE is not associated with availability of WBP, and, for female grizzly bears, increasing population density may constrain home-range size.

  15. 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.

  16. Hemicellulose block copolymers made from woods for wide-range directed self-assembly lithography enabling wider range of applicable patterning size

    Science.gov (United States)

    Morita, Kazuyo; Yamamoto, Kimiko

    2017-03-01

    Xylan, one of hemicellulose family, block copolymer was newly developed for wide-range directed self-assembly lithography (DSA). Xylan is higher hydrophilic material because of having many hydroxy groups in one molecule. It means that xylan block copolymer has a possibility of high-chi block copolymer. Generally, DSA is focused on microphase separation for smaller size with high-chi block copolymer and not well known for larger size. In this study, xylan block copolymer was confirmed enabling wider range of patterning size, from smaller size to larger size. The key of xylan block copolymer is a new molecular structure of block copolymer and sugar chain control technology. Sugar content is the important parameter for not only micro-phase separation property but also line edge roughness (LER) and defects. Based on the sugar control technology, wide-range (hp 8.3nm to 26nm L/S and CD 10nm to 51nm hole) DSA patterning was demonstrated. Additionally it was confirmed that xylan block copolymer is suitable for sequential infiltration synthesis (SIS) process.

  17. Paramutation: Heritable in trans effects

    NARCIS (Netherlands)

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

    2009-01-01

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

  18. Speciation and extinction drive the appearance of directional range size evolution in phylogenies and the fossil record.

    Science.gov (United States)

    Pigot, Alex L; Owens, Ian P F; Orme, C David L

    2012-01-01

    While the geographic range of a species is a fundamental unit of macroecology and a leading predictor of extinction risk, the evolutionary dynamics of species' ranges remain poorly understood. Based on statistical associations between range size and species age, many studies have claimed support for general models of range evolution in which the area occupied by a species varies predictably over the course of its life. Such claims have been made using both paleontological data and molecular estimates of the age of extant species. However, using a stochastic model, we show that the appearance of trends in range size with species' age can arise even when range sizes have evolved at random through time. This occurs because the samples of species used in existing studies are likely to be biased with respect to range size: for example, only those species that happened to have large or expanding ranges are likely to survive to the present, while extinct species will tend to be those whose ranges, by chance, declined through time. We compared the relationship between the age and range size of species arising under our stochastic model to those observed across 1,269 species of extant birds and mammals and 140 species of extinct Cenozoic marine mollusks. We find that the stochastic model is able to generate the full spectrum of empirical age-area relationships, implying that such trends cannot be simply interpreted as evidence for models of directional range size evolution. Our results therefore challenge the theory that species undergo predictable phases of geographic expansion and contraction through time.

  19. Speciation and Extinction Drive the Appearance of Directional Range Size Evolution in Phylogenies and the Fossil Record

    Science.gov (United States)

    Pigot, Alex L.; Owens, Ian P. F.; Orme, C. David L.

    2012-01-01

    While the geographic range of a species is a fundamental unit of macroecology and a leading predictor of extinction risk, the evolutionary dynamics of species' ranges remain poorly understood. Based on statistical associations between range size and species age, many studies have claimed support for general models of range evolution in which the area occupied by a species varies predictably over the course of its life. Such claims have been made using both paleontological data and molecular estimates of the age of extant species. However, using a stochastic model, we show that the appearance of trends in range size with species' age can arise even when range sizes have evolved at random through time. This occurs because the samples of species used in existing studies are likely to be biased with respect to range size: for example, only those species that happened to have large or expanding ranges are likely to survive to the present, while extinct species will tend to be those whose ranges, by chance, declined through time. We compared the relationship between the age and range size of species arising under our stochastic model to those observed across 1,269 species of extant birds and mammals and 140 species of extinct Cenozoic marine mollusks. We find that the stochastic model is able to generate the full spectrum of empirical age–area relationships, implying that such trends cannot be simply interpreted as evidence for models of directional range size evolution. Our results therefore challenge the theory that species undergo predictable phases of geographic expansion and contraction through time. PMID:22371689

  20. Speciation and extinction drive the appearance of directional range size evolution in phylogenies and the fossil record.

    Directory of Open Access Journals (Sweden)

    Alex L Pigot

    Full Text Available While the geographic range of a species is a fundamental unit of macroecology and a leading predictor of extinction risk, the evolutionary dynamics of species' ranges remain poorly understood. Based on statistical associations between range size and species age, many studies have claimed support for general models of range evolution in which the area occupied by a species varies predictably over the course of its life. Such claims have been made using both paleontological data and molecular estimates of the age of extant species. However, using a stochastic model, we show that the appearance of trends in range size with species' age can arise even when range sizes have evolved at random through time. This occurs because the samples of species used in existing studies are likely to be biased with respect to range size: for example, only those species that happened to have large or expanding ranges are likely to survive to the present, while extinct species will tend to be those whose ranges, by chance, declined through time. We compared the relationship between the age and range size of species arising under our stochastic model to those observed across 1,269 species of extant birds and mammals and 140 species of extinct Cenozoic marine mollusks. We find that the stochastic model is able to generate the full spectrum of empirical age-area relationships, implying that such trends cannot be simply interpreted as evidence for models of directional range size evolution. Our results therefore challenge the theory that species undergo predictable phases of geographic expansion and contraction through time.

  1. Geographic location and phylogeny are the main determinants of the size of the geographical range in aquatic beetles

    Directory of Open Access Journals (Sweden)

    Abellán Pedro

    2011-11-01

    Full Text Available Abstract Background Why some species are widespread while others are very restricted geographically is one of the most basic questions in biology, although it remains largely unanswered. This is particularly the case for groups of closely related species, which often display large differences in the size of the geographical range despite sharing many other factors due to their common phylogenetic inheritance. We used ten lineages of aquatic Coleoptera from the western Palearctic to test in a comparative framework a broad set of possible determinants of range size: species' age, differences in ecological tolerance, dispersal ability and geographic location. Results When all factors were combined in multiple regression models between 60-98% of the variance was explained by geographic location and phylogenetic signal. Maximum latitudinal and longitudinal limits were positively correlated with range size, with species at the most northern latitudes and eastern longitudes displaying the largest ranges. In lineages with lotic and lentic species, the lentic (better dispersers display larger distributional ranges than the lotic species (worse dispersers. The size of the geographical range was also positively correlated with the extent of the biomes in which the species is found, but we did not find evidence of a clear relationship between range size and age of the species. Conclusions Our findings show that range size of a species is shaped by an interplay of geographic and ecological factors, with a phylogenetic component affecting both of them. The understanding of the factors that determine the size and geographical location of the distributional range of species is fundamental to the study of the origin and assemblage of the current biota. Our results show that for this purpose the most relevant data may be the phylogenetic history of the species and its geographical location.

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

    Science.gov (United States)

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

    2010-01-01

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

  3. Heritability and familial aggregation of diverticular disease

    DEFF Research Database (Denmark)

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

    2013-01-01

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

  4. Speciation in little: the role of range and body size in the diversification of Malagasy mantellid frogs

    Directory of Open Access Journals (Sweden)

    Vences Miguel

    2011-07-01

    Full Text Available Abstract Background The rate and mode of lineage diversification might be shaped by clade-specific traits. In Madagascar, many groups of organisms are characterized by tiny distribution ranges and small body sizes, and this high degree of microendemism and miniaturization parallels a high species diversity in some of these groups. We here investigate the geographic patterns characterizing the radiation of the frog family Mantellidae that is virtually endemic to Madagascar. We integrate a newly reconstructed near-complete species-level timetree of the Mantellidae with georeferenced distribution records and maximum male body size data to infer the influence of these life-history traits on each other and on mantellid diversification. Results We reconstructed a molecular phylogeny based on nuclear and mitochondrial DNA for 257 species and candidate species of the mantellid frog radiation. Based on this phylogeny we identified 53 well-supported pairs of sister species that we used for phylogenetic comparative analyses, along with whole tree-based phylogenetic comparative methods. Sister species within the Mantellidae diverged at 0.2-14.4 million years ago and more recently diverged sister species had geographical range centroids more proximate to each other, independently of their current sympatric or allopatric occurrence. The largest number of sister species pairs had non-overlapping ranges, but several examples of young microendemic sister species occurring in full sympatry suggest the possibility of non-allopatric speciation. Range sizes of species included in the sister species comparisons increased with evolutionary age, as did range size differences between sister species, which rejects peripatric speciation. For the majority of mantellid sister species and the whole mantellid radiation, range and body sizes were associated with each other and small body sizes were linked to higher mitochondrial nucleotide substitution rates and higher clade

  5. The mid-domain effect matters: simulation analyses of range-size distribution data from Mount Kinabalu, Borneo

    DEFF Research Database (Denmark)

    Grytnes, John-Arvid; Beaman, John H.; Romdal, Tom Skovlund

    2008-01-01

    within the domain (range-restricted MDE), and a model encompassing all species with the theoretical midpoint within the domain (midpoint-restricted MDE). These predictions are compared with observations from the elevational pattern of range-size distributions and species richness of vascular plants...

  6. Heritability and intrafamilial aggregation of arterial characteristics

    Science.gov (United States)

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

    2013-01-01

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

  7. Home-range size and overlap within an introduced population of the Cuban Knight Anole, Anolis equestris (Squamata: Iguanidae

    Directory of Open Access Journals (Sweden)

    Paul M. Richards

    2011-07-01

    Full Text Available Many studies have investigated the spatial relationships of terrestrial lizards, but arboreal species remain poorly studiedbecause they are difficult to observe. The conventional view of home-range size and overlap among territorial, polygynous species of lizards is that: (1 male home ranges are larger than those of females; (2 male home ranges usually encompass, or substantiallyoverlap, those of several females; and (3 male home-range overlap varies but often is minimal, but female home ranges frequently overlap extensively. However, the paucity of pertinent studies makes it difficult to generalize these patterns to arboreal lizards. Weinvestigated home-range size and overlap in the arboreal Knight Anole, Anolis equestris, and compared our findings to published home-range data for 15 other species of Anolis. Using radiotelemetry and mark-recapture/resight techniques, we analyzed the home rangesof individuals from an introduced population of Knight Anoles in Miami, Florida. The home ranges of both sexes substantially overlapped those of the same- and different-sex individuals. In addition, male and female home ranges did not differ significantly, an unusual observation among lizard species. If one compares both male and female home ranges to those of other Anolis species, Knight Anoles have significantly larger home ranges, except for two species for which statistical comparisons were not possible. Our results suggest that home ranges and sex-specific spatial arrangements of canopy lizards may differ from those of more terrestrial species.

  8. Heritability of chronic venous disease

    OpenAIRE

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

    2010-01-01

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

  9. Heritability of chronic venous disease

    Science.gov (United States)

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

    2010-01-01

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

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

    Science.gov (United States)

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

    2015-02-01

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

  11. Home range size and breeding dispersal of a common buzzard (Buteo buteo

    Directory of Open Access Journals (Sweden)

    Väli Ülo

    2017-12-01

    Full Text Available Telemetric studies have provided ample information on threatened raptors, but still little is known about space use and dispersal of common species. Here I describe the home range and breeding dispersal of a GPS-tracked adult male common buzzard, studied in south-eastern Estonia in 2014–16. This buzzard’s home range covered 8.3 km2 (kernel 95% estimate with the core range being 2.1 km2 (kernel 50%. The home range increased in the course of the breeding season but decreased again before migration. Surprisingly, the nests in the two successive breeding years were located in the opposite margins of the home range, 1.7 km from each other.

  12. The relationship between diet breadth and geographic range size in the butterfly subfamily Nymphalinae--a study of global scale.

    Directory of Open Access Journals (Sweden)

    Jessica Slove

    Full Text Available The "oscillation hypothesis" has been proposed as a general explanation for the exceptional diversification of herbivorous insect species. The hypothesis states that speciation rates are elevated through repeated correlated changes--oscillations--in degree of host plant specificity and geographic range. The aim of this study is to test one of the predictions from the oscillation hypothesis: a positive correlation between diet breadth (number of host plants used and geographic range size, using the globally distributed butterfly subfamily Nymphalinae. Data on diet breadth and global geographic range were collected for 182 Nymphalinae butterflies species and the size of the geographic range was measured using a GIS. We tested both diet breadth and geographic range size for phylogenetic signal to see if species are independent of each other with respect to these characters. As this test gave inconclusive results, data was analysed both using cross-species comparisons and taking phylogeny into account using generalised estimating equations as applied in the APE package in R. Irrespective of which method was used, we found a significant positive correlation between diet breadth and geographic range size. These results are consistent for two different measures of diet breadth and removal of outliers. We conclude that the global range sizes of Nymphalinae butterflies are correlated to diet breadth. That is, butterflies that feed on a large number of host plants tend to have larger geographic ranges than do butterflies that feed on fewer plants. These results lend support for an important step in the oscillation hypothesis of plant-driven diversification, in that it can provide the necessary fuel for future population fragmentation and speciation.

  13. Beyond missing heritability: prediction of complex traits.

    Directory of Open Access Journals (Sweden)

    Robert Makowsky

    2011-04-01

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

  14. Seasonality, weather and climate affect home range size in roe deer across a wide latitudinal gradient within Europe.

    Science.gov (United States)

    Morellet, Nicolas; Bonenfant, Christophe; Börger, Luca; Ossi, Federico; Cagnacci, Francesca; Heurich, Marco; Kjellander, Petter; Linnell, John D C; Nicoloso, Sandro; Sustr, Pavel; Urbano, Ferdinando; Mysterud, Atle

    2013-11-01

    1. Because many large mammal species have wide geographical ranges, spatially distant populations may be confronted with different sets of environmental conditions. Investigating how home range (HR) size varies across environmental gradients should yield a better understanding of the factors affecting large mammal ecology. 2. We evaluated how HR size of a large herbivore, the roe deer (Capreolus capreolus), varies in relation to seasonality, latitude (climate), weather, plant productivity and landscape features across its geographical range in Western Europe. As roe deer are income breeders, expected to adjust HR size continuously to temporal variation in food resources and energetic requirements, our baseline prediction was for HR size to decrease with proxies of resource availability. 3. We used GPS locations of roe deer collected from seven study sites (EURODEER collaborative project) to estimate fixed-kernel HR size at weekly and monthly temporal scales. We performed an unusually comprehensive analysis of variation in HR size among and within populations over time across the geographical range of a single species using generalized additive mixed models and linear mixed models, respectively. 4. Among populations, HR size decreased with increasing values for proxies of forage abundance, but increased with increases in seasonality, stochastic variation of temperature, latitude and snow cover. Within populations, roe deer HR size varied over time in relation to seasonality and proxies of forage abundance in a consistent way across the seven populations. Thus, our findings were broadly consistent across the distributional range of this species, demonstrating a strong and ubiquitous link between the amplitude and timing of environmental seasonality and HR size at the continental scale. 5. Overall, the variability in average HR size of roe deer across Europe reflects the interaction among local weather, climate and seasonality, providing valuable insight into the

  15. Hedgehogs on the move: Testing the effects of land use change on home range size and movement patterns of free-ranging Ethiopian hedgehogs.

    Directory of Open Access Journals (Sweden)

    Mohammad A Abu Baker

    Full Text Available Degradation and alteration of natural environments because of agriculture and other land uses have major consequences on vertebrate populations, particularly on spatial organization and movement patterns. We used GPS tracking to study the effect of land use and sex on the home range size and movement of a typical model species, the Ethiopian hedgehogs. We used free-ranging hedgehogs from two areas with different land use practices: 24 from an area dominated by irrigated farms (12 ♂♂, 12 ♀♀ and 22 from a natural desert environment within a biosphere reserve (12 ♂♂, 10 ♀♀. Animals were significantly heavier in the resource-rich irrigated farms area (417.71 ±12.77SE g in comparison to the natural desert area (376.37±12.71SE g. Both habitat and sex significantly influenced the home range size of hedgehogs. Home ranges were larger in the reserve than in the farms area. Total home ranges averaged 103 ha (±17 SE for males and 42 ha (±11SE for females in the farms area, but were much larger in the reserve averaging 230 ha (±33 SE for males and 150 ha (±29 SE for females. The home ranges of individuals of both sexes overlapped. Although females were heavier than males, body weight had no effect on home range size. The results suggest that resources provided in the farms (e.g. food, water, and shelters influenced animal density and space use. Females aggregated around high-resource areas (either farms or rawdhats, whereas males roamed over greater distances, likely in search of mating opportunities to maximize reproductive success. Most individual home ranges overlapped with many other individuals of either sex, suggesting a non-territorial, promiscuous mating. Patterns of space use and habitat utilization are key factors in shaping aspects of reproductive biology and mating system. To minimize the impacts of agriculture on local wildlife, we recommend that biodiversity-friendly agro-environmental schemes be introduced in the Middle

  16. Hedgehogs on the move: Testing the effects of land use change on home range size and movement patterns of free-ranging Ethiopian hedgehogs.

    Science.gov (United States)

    Abu Baker, Mohammad A; Reeve, Nigel; Conkey, April A T; Macdonald, David W; Yamaguchi, Nobuyuki

    2017-01-01

    Degradation and alteration of natural environments because of agriculture and other land uses have major consequences on vertebrate populations, particularly on spatial organization and movement patterns. We used GPS tracking to study the effect of land use and sex on the home range size and movement of a typical model species, the Ethiopian hedgehogs. We used free-ranging hedgehogs from two areas with different land use practices: 24 from an area dominated by irrigated farms (12 ♂♂, 12 ♀♀) and 22 from a natural desert environment within a biosphere reserve (12 ♂♂, 10 ♀♀). Animals were significantly heavier in the resource-rich irrigated farms area (417.71 ±12.77SE g) in comparison to the natural desert area (376.37±12.71SE g). Both habitat and sex significantly influenced the home range size of hedgehogs. Home ranges were larger in the reserve than in the farms area. Total home ranges averaged 103 ha (±17 SE) for males and 42 ha (±11SE) for females in the farms area, but were much larger in the reserve averaging 230 ha (±33 SE) for males and 150 ha (±29 SE) for females. The home ranges of individuals of both sexes overlapped. Although females were heavier than males, body weight had no effect on home range size. The results suggest that resources provided in the farms (e.g. food, water, and shelters) influenced animal density and space use. Females aggregated around high-resource areas (either farms or rawdhats), whereas males roamed over greater distances, likely in search of mating opportunities to maximize reproductive success. Most individual home ranges overlapped with many other individuals of either sex, suggesting a non-territorial, promiscuous mating. Patterns of space use and habitat utilization are key factors in shaping aspects of reproductive biology and mating system. To minimize the impacts of agriculture on local wildlife, we recommend that biodiversity-friendly agro-environmental schemes be introduced in the Middle East where

  17. The evolution of environmental tolerance and range size: a comparison of geographically restricted and widespread Mimulus.

    Science.gov (United States)

    Sheth, Seema N; Angert, Amy L

    2014-10-01

    The geographic ranges of closely related species can vary dramatically, yet we do not fully grasp the mechanisms underlying such variation. The niche breadth hypothesis posits that species that have evolved broad environmental tolerances can achieve larger geographic ranges than species with narrow environmental tolerances. In turn, plasticity and genetic variation in ecologically important traits and adaptation to environmentally variable areas can facilitate the evolution of broad environmental tolerance. We used five pairs of western North American monkeyflowers to experimentally test these ideas by quantifying performance across eight temperature regimes. In four species pairs, species with broader thermal tolerances had larger geographic ranges, supporting the niche breadth hypothesis. As predicted, species with broader thermal tolerances also had more within-population genetic variation in thermal reaction norms and experienced greater thermal variation across their geographic ranges than species with narrow thermal tolerances. Species with narrow thermal tolerance may be particularly vulnerable to changing climatic conditions due to lack of plasticity and insufficient genetic variation to respond to novel selection pressures. Conversely, species experiencing high variation in temperature across their ranges may be buffered against extinction due to climatic changes because they have evolved tolerance to a broad range of temperatures. © 2014 The Author(s). Evolution © 2014 The Society for the Study of Evolution.

  18. Application of ferrofluid density separation to particles in the micrometer-size range

    Energy Technology Data Exchange (ETDEWEB)

    Strebin, R.S. Jr.; Johnson, J.W.; Robertson, D.M.

    1976-02-01

    A device designed and described by AVCO* as a ''Ferrofluid Density Separator''/sup (1)/ develops an apparent fluid density from nominally 2 to 20 g/cm/sup 3/ dependent on the magnitude of an imposed magnetic field gradient. The ferrofluid retains other normal properties of a liquid. One of these devices and a concentration series of ferrofluids were obtained in order to determine the practicality of separating groups of micrometer-size particles into density fractions. Such separations would be of enormous value in the study of various particle burdens because particles of interest are almost always diluted with overwhelming amounts of other particles. The results of a study of separations of micrometer-size particles with the ferrofluid density separator are presented.

  19. Heritability of longevity in Large White and Landrace sows using continuous time and grouped data models.

    Science.gov (United States)

    Mészáros, Gábor; Pálos, Judit; Ducrocq, Vincent; Sölkner, Johann

    2010-05-13

    Using conventional measurements of lifetime, it is not possible to differentiate between productive and non-productive days during a sow's lifetime and this can lead to estimated breeding values favoring less productive animals. By rescaling the time axis from continuous to several discrete classes, grouped survival data (discrete survival time) models can be used instead. The productive life length of 12319 Large White and 9833 Landrace sows was analyzed with continuous scale and grouped data models. Random effect of herd*year, fixed effects of interaction between parity and relative number of piglets, age at first farrowing and annual herd size change were included in the analysis. The genetic component was estimated from sire, sire-maternal grandsire, sire-dam, sire-maternal grandsire and animal models, and the heritabilities computed for each model type in both breeds. If age at first farrowing was under 43 weeks or above 60 weeks, the risk of culling sows increased. An interaction between parity and relative litter size was observed, expressed by limited culling during first parity and severe risk increase of culling sows having small litters later in life. In the Landrace breed, heritabilities ranged between 0.05 and 0.08 (s.e. 0.014-0.020) for the continuous and between 0.07 and 0.11 (s.e. 0.016-0.023) for the grouped data models, and in the Large White breed, they ranged between 0.08 and 0.14 (s.e. 0.012-0.026) for the continuous and between 0.08 and 0.13 (s.e. 0.012-0.025) for the grouped data models. Heritabilities for length of productive life were similar with continuous time and grouped data models in both breeds. Based on these results and because grouped data models better reflect the economical needs in meat animals, we conclude that grouped data models are more appropriate in pig.

  20. Among-Individual Variation in Desert Iguanas (Squamata: Dipsosaurus dorsalis): Endurance Capacity Is Positively Related to Home Range Size.

    Science.gov (United States)

    Singleton, Jennifer M; Garland, Theodore

    Among species of lizards, endurance capacity measured on a motorized treadmill is positively related to daily movement distance and time spent moving, but few studies have addressed such relationships at the level of individual variation within a sex and age category in a single population. Both endurance capacity and home range size show substantial individual variation in lizards, rendering them suitable for such studies. We predicted that these traits would be positively related because endurance capacity is one of the factors that has the potential to limit home range size. We measured the endurance capacity and home range size of adult male desert iguanas (Dipsosaurus dorsalis). Lizards were field captured for measurements of endurance, and home range data were gathered using visual identification of previously marked individuals. Endurance was significantly repeatable between replicate trials, conducted 1-17 d apart ([Formula: see text] for log-transformed values, [Formula: see text], [Formula: see text]). The log of the higher of two endurance trials was positively but not significantly related to log body mass. The log of home range area was positively but not significantly related to log body mass, the number of sightings, or the time span from first to last sighting. As predicted, log endurance was positively correlated with log home range area ([Formula: see text], [Formula: see text], one-tailed [Formula: see text]; for body-mass residual endurance values: [Formula: see text], one-tailed [Formula: see text]). These results suggest that endurance capacity may have a permissive effect on home range size. Alternatively, individuals with larger home ranges may experience training effects (phenotypic plasticity) that increase their endurance.

  1. The range of local public services and population size: Is there a “zoo effect” in French jurisdictions?

    OpenAIRE

    Quentin Frère; Hakim Hammadou; Sonia Paty

    2011-01-01

    This article contributes to the small literature on the relationship between the range of local public services and population size. Using new data on French local jurisdictions, we test the hypothesis that larger jurisdictions provide a broader range of public goods (the so-called “zoo effect”, Oates (1988)). We take advantage of the fact that, in France, many municipalities recently joined together, forming groups of municipalities (or communities) in order to achieve economies of scale. Us...

  2. Intensity of space use reveals conditional sex-specific effects of prey and conspecific density on home range size.

    Science.gov (United States)

    Aronsson, Malin; Low, Matthew; López-Bao, José V; Persson, Jens; Odden, John; Linnell, John D C; Andrén, Henrik

    2016-05-01

    Home range (HR) size variation is often linked to resource abundance, with sex differences expected to relate to sex-specific fitness consequences. However, studies generally fail to disentangle the effects of the two main drivers of HR size variation, food and conspecific density, and rarely consider how their relative influence change over spatiotemporal scales. We used location data from 77 Eurasian lynx (Lynx lynx) from a 16-year Scandinavian study to examine HR sizes variation relative to prey and conspecific density at different spatiotemporal scales. By varying the isopleth parameter (intensity of use) defining the HR, we show that sex-specific effects were conditional on the spatial scale considered. Males had larger HRs than females in all seasons. Females' total HR size declined as prey and conspecific density increased, whereas males' total HR was only affected by conspecific density. However, as the intensity of use within the HR increased (from 90% to 50% isopleth), the relationship between prey density and area showed opposing patterns for females and males; for females, the prey density effect was reduced, while for males, prey became increasingly important. Thus, prey influenced the size of key regions within male HRs, despite total HR size being independent of prey density. Males reduced their HR size during the mating season, likely to remain close to individual females in estrous. Females reduced their HR size postreproduction probably because of movement constrains imposed by dependent young. Our findings highlight the importance of simultaneously considering resources and intraspecific interactions as HR size determinants. We show that sex-specific demands influence the importance of prey and conspecific density on space use at different spatiotemporal scales. Thus, unless a gradient of space use intensity is examined, factors not related to total HR size might be disregarded despite their importance in determining size of key regions within

  3. Summer Home Range Size of Female Indiana Bats (Myotis Sodalis) in Missouri, USA

    Science.gov (United States)

    Kathryn M. Womack; Sybill K. Amelon; Frank R. Thompson

    2013-01-01

    Knowledge of space use by wildlife that are a conservation concern is critical to ensure that management and conservation provides adequate resources to ensure survival and reproductive success. We radio tracked 13 pregnant and 12 lactating Myotis sodalis (Indiana bat) during the maternity season in northern Missouri. Mean (± SE) home range...

  4. Changes in home range sizes and population densities of carnivore species along the natural to urban habitat gradient

    Czech Academy of Sciences Publication Activity Database

    Šálek, Martin; Drahníková, L.; Tkadlec, Emil

    2015-01-01

    Roč. 45, č. 1 (2015), s. 1-14 ISSN 0305-1838 Institutional support: RVO:68081766 Keywords : Carnivores * home range size * natural–urban gradient * population density * review Subject RIV: EG - Zoology Impact factor: 4.116, year: 2015

  5. The heritability of blood donation

    DEFF Research Database (Denmark)

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

    2015-01-01

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

  6. Climate, fire size, and biophysical setting control fire severity and spatial pattern in the northern Cascade Range, USA.

    Science.gov (United States)

    Cansler, C Alina; McKenzie, Donald

    2014-07-01

    Warmer and drier climate over the past few decades has brought larger fire sizes and increased annual area burned in forested ecosystems of western North America, and continued increases in annual area burned are expected due to climate change. As warming continues, fires may also increase in severity and produce larger contiguous patches of severely burned areas. We used remotely sensed burn-severity data from 125 fires in the northern Cascade Range of Washington, USA, to explore relationships between fire size, severity, and the spatial pattern of severity. We examined relationships between climate and the annual area burned and the size of wildfires over a 25-year period. We tested the hypothesis that increased fire size is commensurate with increased burn severity and increased spatial aggregation of severely burned areas. We also asked how local ecological controls might modulate these relationships by comparing results over the whole study area (the northern Cascade Range) to those from four ecological subsections within it. We found significant positive relationships between climate and fire size, and between fire size and the proportion of high severity and spatial-pattern metrics that quantify the spatial aggregation of high-severity areas within fires, but the strength and significance of these relationships varied among the four subsections. In areas with more contiguous subalpine forests and less complex topography, the proportion and spatial aggregation of severely burned areas were more strongly correlated with fire size. If fire sizes increase in a warming climate, changes in the extent, severity, and spatial pattern of fire regimes are likely to be more pronounced in higher-severity fire regimes with less complex topography and more continuous fuels.

  7. Heritable factors influence sexual orientation in women.

    Science.gov (United States)

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

    1993-03-01

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

  8. Heritability of attractiveness to mosquitoes.

    Science.gov (United States)

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

    2015-01-01

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

  9. Heritability of attractiveness to mosquitoes.

    Directory of Open Access Journals (Sweden)

    G Mandela Fernández-Grandon

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

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

    Science.gov (United States)

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

    2015-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Sebastian Bonhoeffer

    2015-02-01

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

  12. Body size, growth and life span: implications for the polewards range shift of Octopus tetricus in south-eastern Australia.

    Science.gov (United States)

    Ramos, Jorge E; Pecl, Gretta T; Moltschaniwskyj, Natalie A; Strugnell, Jan M; León, Rafael I; Semmens, Jayson M

    2014-01-01

    Understanding the response of any species to climate change can be challenging. However, in short-lived species the faster turnover of generations may facilitate the examination of responses associated with longer-term environmental change. Octopus tetricus, a commercially important species, has undergone a recent polewards range shift in the coastal waters of south-eastern Australia, thought to be associated with the southerly extension of the warm East Australian Current. At the cooler temperatures of a polewards distribution limit, growth of a species could be slower, potentially leading to a bigger body size and resulting in a slower population turnover, affecting population viability at the extreme of the distribution. Growth rates, body size, and life span of O. tetricus were examined at the leading edge of a polewards range shift in Tasmanian waters (40°S and 147°E) throughout 2011. Octopus tetricus had a relatively small body size and short lifespan of approximately 11 months that, despite cooler temperatures, would allow a high rate of population turnover and may facilitate the population increase necessary for successful establishment in the new extended area of the range. Temperature, food availability and gender appear to influence growth rate. Individuals that hatched during cooler and more productive conditions, but grew during warming conditions, exhibited faster growth rates and reached smaller body sizes than individuals that hatched into warmer waters but grew during cooling conditions. This study suggests that fast growth, small body size and associated rapid population turnover may facilitate the range shift of O. tetricus into Tasmanian waters.

  13. 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.

  14. 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.

  15. Parallel averaging of size is possible but range-limited: a reply to Marchant, Simons, and De Fockert.

    Science.gov (United States)

    Utochkin, Igor S; Tiurina, Natalia A

    2014-02-01

    In their recent paper, Marchant, Simons, and De Fockert (2013) claimed that the ability to average between multiple items of different sizes is limited by small samples of arbitrarily attended members of a set. This claim is based on a finding that observers are good at representing the average when an ensemble includes only two sizes distributed among all items (regular sets), but their performance gets worse when the number of sizes increases with the number of items (irregular sets). We argue that an important factor not considered by Marchant et al. (2013) is the range of size variation that was much bigger in their irregular sets. We manipulated this factor across our experiments and found almost the same efficiency of averaging for both regular and irregular sets when the range was stabilized. Moreover, highly regular sets consisting only of small and large items (two-peaks distributions) were averaged with greater error than sets with small, large, and intermediate items, suggesting a segmentation threshold determining whether all variable items are perceived as a single ensemble or distinct subsets. Our results demonstrate that averaging can actually be parallel but the visual system has some difficulties with it when some items differ too much from others. Copyright © 2013 Elsevier B.V. All rights reserved.

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

    Science.gov (United States)

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

    2015-01-01

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

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

    Science.gov (United States)

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

    2015-01-01

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

  18. variation, correlation and heritability of interest characters

    African Journals Online (AJOL)

    ACSS

    2016-05-17

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

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

    African Journals Online (AJOL)

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

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

    African Journals Online (AJOL)

    Unknown

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

  1. The heritability of leucocyte telomere length dynamics

    DEFF Research Database (Denmark)

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

    2015-01-01

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

  2. Cooling rate and size effects on the medium-range structure of multicomponent oxide glasses simulated by molecular dynamics

    Energy Technology Data Exchange (ETDEWEB)

    Tilocca, Antonio [Department of Chemistry, University College London, 20 Gordon Street, London WC1H 0AJ (United Kingdom)

    2013-09-21

    A set of molecular dynamics simulations were performed to investigate the effect of cooling rate and system size on the medium-range structure of melt-derived multicomponent silicate glasses, represented by the quaternary 45S5 Bioglass composition. Given the significant impact of the glass degradation on applications of these materials in biomedicine and nuclear waste disposal, bulk structural features which directly affect the glass dissolution process are of particular interest. Connectivity of the silicate matrix, ion clustering and nanosegregation, distribution of ring and chain structural patterns represent critical features in this context, which can be directly extracted from the models. A key issue is represented by the effect of the computational approach on the corresponding glass models, especially in light of recent indications questioning the suitability of conventional MD approaches (that is, involving melt-and-quench of systems containing ∼10{sup 3} atoms at cooling rates of 5-10 K/ps) when applied to model these glasses. The analysis presented here compares MD models obtained with conventional and nonconventional cooling rates and system sizes, highlighting the trend and range of convergence of specific structural features in the medium range. The present results show that time-consuming computational approaches involving much lower cooling rates and/or significantly larger system sizes are in most cases not necessary in order to obtain a reliable description of the medium-range structure of multicomponent glasses. We identify the convergence range for specific properties and use them to discuss models of several glass compositions for which a possible influence of cooling-rate or size effects had been previously hypothesized. The trends highlighted here represent an important reference to obtain reliable models of multicomponent glasses and extract converged medium-range structural features which affect the glass degradation and thus their

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

    Science.gov (United States)

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

    2015-12-01

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

  4. Sex-biased inbreeding effects on reproductive success and home range size of the critically endangered black rhinoceros.

    Science.gov (United States)

    Cain, Bradley; Wandera, Antony B; Shawcross, Susan G; Edwin Harris, W; Stevens-Wood, Barry; Kemp, Stephen J; Okita-Ouma, Benson; Watts, Phillip C

    2014-04-01

    A central premise of conservation biology is that small populations suffer reduced viability through loss of genetic diversity and inbreeding. However, there is little evidence that variation in inbreeding impacts individual reproductive success within remnant populations of threatened taxa, largely due to problems associated with obtaining comprehensive pedigree information to estimate inbreeding. In the critically endangered black rhinoceros, a species that experienced severe demographic reductions, we used model selection to identify factors associated with variation in reproductive success (number of offspring). Factors examined as predictors of reproductive success were age, home range size, number of nearby mates, reserve location, and multilocus heterozygosity (a proxy for inbreeding). Multilocus heterozygosity predicted male reproductive success (p58%) and correlated with male home range size (p 44%). Such effects were not apparent in females, where reproductive success was determined by age (p < 0.01, explained deviance 34%) as females raise calves alone and choose between, rather than compete for, mates. This first report of a 3-way association between an individual male's heterozygosity, reproductive output, and territory size in a large vertebrate is consistent with an asymmetry in the level of intrasexual competition and highlights the relevance of sex-biased inbreeding for the management of many conservation-priority species. Our results contrast with the idea that wild populations of threatened taxa may possess some inherent difference from most nonthreatened populations that necessitates the use of detailed pedigrees to study inbreeding effects. Despite substantial variance in male reproductive success, the increased fitness of more heterozygous males limits the loss of heterozygosity. Understanding how individual differences in genetic diversity mediate the outcome of intrasexual competition will be essential for effective management, particularly

  5. How do low dispersal species establish large range sizes? The case of the water beetle Graphoderus bilineatus

    DEFF Research Database (Denmark)

    Iversen, Lars Lønsmann; Rannap, Riinu; Thomsen, Philip Francis

    2013-01-01

    important than species phylogeny or local spatial attributes. In this study we used the water beetle Graphoderus bilineatus a philopatric species of conservation concern in Europe as a model to explain large range size and to support effective conservation measures for such species that also have limited...... systems and wetlands which used to be highly connected throughout the central plains of Europe. Our data suggest that a broad habitat niche can prevent landscape elements from becoming barriers for species like G. bilineatus. Therefore, we question the usefulness of site protection as conservation...... measures for G. bilineatus and similar philopatric species. Instead, conservation actions should be focused at the landscape level to ensure a long-term viability of such species across their range....

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

    Directory of Open Access Journals (Sweden)

    Peter B. Chi

    2014-05-01

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

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

    Science.gov (United States)

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

    2014-01-01

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

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

    Science.gov (United States)

    Chen, Guo-Bo

    2016-01-01

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

  9. Evaluation of Argos Telemetry Accuracy in the High-Arctic and Implications for the Estimation of Home-Range Size.

    Directory of Open Access Journals (Sweden)

    Sylvain Christin

    Full Text Available Animal tracking through Argos satellite telemetry has enormous potential to test hypotheses in animal behavior, evolutionary ecology, or conservation biology. Yet the applicability of this technique cannot be fully assessed because no clear picture exists as to the conditions influencing the accuracy of Argos locations. Latitude, type of environment, and transmitter movement are among the main candidate factors affecting accuracy. A posteriori data filtering can remove "bad" locations, but again testing is still needed to refine filters. First, we evaluate experimentally the accuracy of Argos locations in a polar terrestrial environment (Nunavut, Canada, with both static and mobile transmitters transported by humans and coupled to GPS transmitters. We report static errors among the lowest published. However, the 68th error percentiles of mobile transmitters were 1.7 to 3.8 times greater than those of static transmitters. Second, we test how different filtering methods influence the quality of Argos location datasets. Accuracy of location datasets was best improved when filtering in locations of the best classes (LC3 and 2, while the Douglas Argos filter and a homemade speed filter yielded similar performance while retaining more locations. All filters effectively reduced the 68th error percentiles. Finally, we assess how location error impacted, at six spatial scales, two common estimators of home-range size (a proxy of animal space use behavior synthetizing movements, the minimum convex polygon and the fixed kernel estimator. Location error led to a sometimes dramatic overestimation of home-range size, especially at very local scales. We conclude that Argos telemetry is appropriate to study medium-size terrestrial animals in polar environments, but recommend that location errors are always measured and evaluated against research hypotheses, and that data are always filtered before analysis. How movement speed of transmitters affects location

  10. Movement Patterns, Home Range Size and Habitat Selection of an Endangered Resource Tracking Species, the Black-Throated Finch (Poephila cincta cincta)

    National Research Council Canada - National Science Library

    Rechetelo, Juliana; Grice, Anthony; Reside, April Elizabeth; Hardesty, Britta Denise; Moloney, James

    2016-01-01

    .... To address this knowledge gap for a range-restricted endangered bird, we estimated home range size, daily movement patterns and habitat use of a granivorous subspecies in northeast Australia, the black-throated finch...

  11. Heritability of bipolar affective disorder: Family study

    Directory of Open Access Journals (Sweden)

    Obradović Tanja

    2011-01-01

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

  12. Phenome-wide heritability analysis of the UK Biobank

    OpenAIRE

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

    2017-01-01

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

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

    NARCIS (Netherlands)

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

    2013-01-01

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

  14. The role of corpus size and syntax in deriving lexico-semantic representations for a wide range of concepts.

    Science.gov (United States)

    De Deyne, Simon; Verheyen, Steven; Storms, Gert

    2015-01-01

    One of the most significant recent advances in the study of semantic processing is the advent of models based on text and other corpora. In this study, we address what impact both the quantitative and qualitative properties of corpora have on mental representations derived from them. More precisely, we evaluate models with different linguistic and mental constraints on their ability to predict semantic relatedness between items from a vast range of domains and categories. We find that a model based on syntactic dependency relations captures significantly less of the variability for all kinds of words, regardless of the semantic relation between them or their abstractness. The largest difference was found for concrete nouns, which are commonly used to assess semantic processing. For both models we find that limited amounts of data suffice in order to obtain reliable predictions. Together, these findings suggest new constraints for the construction of mental models from corpora, both in terms of the corpus size and in terms of the linguistic properties that contribute to mental representations.

  15. 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.

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

    Science.gov (United States)

    Benyamin, B; Pourcain, BSt; Davis, OS; Davies, G; Hansell, NK; Brion, M-JA; Kirkpatrick, RM; Cents, RAM; Franić, S; Miller, MB; Haworth, CMA; Meaburn, E; Price, TS; Evans, DM; Timpson, N; Kemp, J; Ring, S; McArdle, W; Medland, SE; Yang, J; Harris, SE; Liewald, DC; Scheet, P; Xiao, X; Hudziak, JJ; de Geus, EJC; Jaddoe, VWV; Starr, JM; Verhulst, FC; Pennell, C; Tiemeier, H; Iacono, WG; Palmer, LJ; Montgomery, GW; Martin, NG; Boomsma, DI; Posthuma, D; McGue, M; Wright, MJ; Smith, G Davey; Deary, IJ; Plomin, R; Visscher, PM

    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 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. PMID:23358156

  17. Body size and geographic range do not explain long term variation in fish populations: a Bayesian phylogenetic approach to testing assembly processes in stream fish assemblages.

    Directory of Open Access Journals (Sweden)

    Stephen J Jacquemin

    Full Text Available We combine evolutionary biology and community ecology to test whether two species traits, body size and geographic range, explain long term variation in local scale freshwater stream fish assemblages. Body size and geographic range are expected to influence several aspects of fish ecology, via relationships with niche breadth, dispersal, and abundance. These traits are expected to scale inversely with niche breadth or current abundance, and to scale directly with dispersal potential. However, their utility to explain long term temporal patterns in local scale abundance is not known. Comparative methods employing an existing molecular phylogeny were used to incorporate evolutionary relatedness in a test for covariation of body size and geographic range with long term (1983 - 2010 local scale population variation of fishes in West Fork White River (Indiana, USA. The Bayesian model incorporating phylogenetic uncertainty and correlated predictors indicated that neither body size nor geographic range explained significant variation in population fluctuations over a 28 year period. Phylogenetic signal data indicated that body size and geographic range were less similar among taxa than expected if trait evolution followed a purely random walk. We interpret this as evidence that local scale population variation may be influenced less by species-level traits such as body size or geographic range, and instead may be influenced more strongly by a taxon's local scale habitat and biotic assemblages.

  18. variation, correlation and heritability of interest characters

    African Journals Online (AJOL)

    ACSS

    2016-05-17

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

  19. Heritability of markers of bone metabolism

    Science.gov (United States)

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

    2005-01-01

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

  20. Dominance, epistasis, heritabilities and expected genetic gains

    Directory of Open Access Journals (Sweden)

    José Marcelo Soriano Viana

    2005-03-01

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

  1. 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...

  2. IQ Heritability: A Checklist of Methodological Fallacies

    Science.gov (United States)

    Taylor, Howard F.

    1976-01-01

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

  3. 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.

  4. Heritability estimates and correlations between subjectively ...

    African Journals Online (AJOL)

    PavarniN

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

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

    African Journals Online (AJOL)

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

  6. Determining Sample Size with a Given Range of Mean Effects in One-Way Heteroscedastic Analysis of Variance

    Science.gov (United States)

    Shieh, Gwowen; Jan, Show-Li

    2013-01-01

    The authors examined 2 approaches for determining the required sample size of Welch's test for detecting equality of means when the greatest difference between any 2 group means is given. It is shown that the actual power obtained with the sample size of the suggested approach is consistently at least as great as the nominal power. However, the…

  7. 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.

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

    Science.gov (United States)

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

    2016-01-01

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

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

    African Journals Online (AJOL)

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

  10. Size segregated mass concentration and size distribution of near surface aerosols over a tropical Indian semi-arid station, Anantapur: Impact of long range transport.

    Science.gov (United States)

    Raghavendra Kumar, K; Narasimhulu, K; Balakrishnaiah, G; Suresh Kumar Reddy, B; Rama Gopal, K; Reddy, R R; Moorthy, K Krishna; Suresh Babu, S

    2009-10-15

    Regular measurements of size segregated as well as total mass concentration and size distribution of near surface composite aerosols, made using a ten-channel Quartz Crystal Microbalance (QCM) cascade impactor during the period of September 2007-May 2008 are used to study the aerosol characteristics in association with the synoptic meteorology. The total mass concentration varied from 59.70+/-1.48 to 41.40+/-1.72 microg m(-3), out of which accumulation mode dominated by approximately 50%. On a synoptic scale, aerosol mass concentration in the accumulation (submicron) mode gradually increased from an average low value of approximately 26.92+/-1.53 microg m(-3) during the post monsoon season (September-November) to approximately 34.95+/-1.32 microg m(-3) during winter (December-February) and reaching a peak value of approximately 43.56+/-1.42 microg m(-3) during the summer season (March-May). On the contrary, mass concentration of aerosols in the coarse (supermicron) mode increased from approximately 9.23+/-1.25 microg m(-3)during post monsoon season to reach a comparatively high value of approximately 25.89+/-1.95 microg m(-3) during dry winter months and a low value of approximately 8.07+/-0.76 microg m(-3) during the summer season. Effective radius, a parameter important in determining optical (scattering) properties of aerosol size distribution, varied between 0.104+/-0.08 microm and 0.167+/-0.06 microm with a mean value of 0.143+/-0.01 microm. The fine mode is highly reduced during the post monsoon period and the large and coarse modes continue to remain high (replenished) so that their relative dominance increases. It can be seen that among the two parameters measured, correlation of total mass concentration with air temperature is positive (R(2)=0.82) compared with relative humidity (RH) (R(2)=0.75).

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

    Science.gov (United States)

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

    2016-05-01

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

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

    Directory of Open Access Journals (Sweden)

    Clarissa Carlin Parker

    2011-06-01

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

  13. Influence of Grain Size Distribution on the Mechanical Behavior of Light Alloys in Wide Range of Strain Rates

    Science.gov (United States)

    Skripnyak, Vladimir A.; Skripnyak, Natalia V.; Skripnyak, Evgeniya G.; Skripnyak, Vladimir V.

    2015-06-01

    Inelastic deformation and damage at the mesoscale level of ultrafine grained (UFG) Al 1560 aluminum and Ma2-1 magnesium alloys with distribution of grain size were investigated in wide loading conditions by experimental and computer simulation methods. The computational multiscale models of representative volume element (RVE) with the unimodal and bimodal grain size distributions were developed using the data of structure researches aluminum and magnesium UFG alloys. The critical fracture stress of UFG alloys on mesoscale level depends on relative volumes of coarse grains. Microcracks nucleation at quasi-static and dynamic loading is associated with strain localization in UFG partial volumes with bimodal grain size distribution. Microcracks arise in the vicinity of coarse and ultrafine grains boundaries. It is revealed that the occurrence of bimodal grain size distributions causes the increasing of UFG alloys ductility, but decreasing of the tensile strength. The increasing of fine precipitations concentration not only causes the hardening but increasing of ductility of UFG alloys with bimodal grain size distribution. This research carried out in 2014-2015 was supported by grant from ``The Tomsk State University Academic D.I. Mendeleev Fund Program''.

  14. 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

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

    Science.gov (United States)

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

    2017-01-01

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

  16. Heritability of somatotype components: a multivariate analysis.

    Science.gov (United States)

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

    2007-08-01

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

  17. Heritable change caused by transient transcription errors.

    Directory of Open Access Journals (Sweden)

    Alasdair J E Gordon

    2013-06-01

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

  18. 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...

  19. A Long-Term Comparison of Yellowstone Cutthroat Trout Abundance and Size Structure in Their Historical Range in Idaho.

    Energy Technology Data Exchange (ETDEWEB)

    Meyer, Kevin A.; Schill, Daniel J.; Elle, F. Steven

    2002-05-23

    We compared estimates of population abundance and size structure for Yellowstone cutthroat trout Oncorhynchus clarki bouvieri obtained by electrofishing 77 stream segments across southeastern Idaho in the 1980s and again in 1999-2000 to test whether populations of Yellowstone cutthroat trout had changed. Sites sampled in the 1980s were relocated in 1999-2000 by using maps and photographs or by finding original site-boundary stakes, so that the same reach of stream was sampled during both periods. Abundance of Yellowstone cutthroat trout longer than 10 cm did not change, averaging 41 fish/100 m of stream during both the 1980s and 1999-2000. The proportion of the total catch of trout composed of Yellowstone cutthroat trout also did not change, averaging 82% in the 1980s and 78% in 1999-2000. At the 48 sites where size structure could be estimated for both periods, the proportion of Yellowstone cutthroat trout that were 10-20 cm long declined slightly (74% versus 66%), but the change was due entirely to the shift in size structure at the Teton River sites. The number of sites that contained rainbow trout O. mykiss or cutthroat trout 3 rainbow trout hybrids rose from 23 to 37, but the average proportion of the catch composed of rainbow trout and hybrids did not increase (7% in both the 1980s and 1999-2000). Although the distribution and abundance of Yellowstone cutthroat trout have been substantially reduced in Idaho over the last century, our results indicate that Yellowstone cutthroat trout abundance and size structure in Idaho have remained relatively stable at a large number of locations for the last 10-20 years. The expanding distribution of rainbow trout and hybrids in portions of the upper Snake River basin, however, calls for additional monitoring and active management actions.

  20. The influence of landscape characteristics and home-range size on the quantification of landscape-genetics relationships

    Science.gov (United States)

    Tabitha A. Graves; Tzeidle N. Wasserman; Milton Cezar Ribeiro; Erin L. Landguth; Stephen F. Spear; Niko Balkenhol; Colleen B. Higgins; Marie-Josee Fortin; Samuel A. Cushman; Lisette P. Waits

    2012-01-01

    A common approach used to estimate landscape resistance involves comparing correlations of ecological and genetic distances calculated among individuals of a species. However, the location of sampled individuals may contain some degree of spatial uncertainty due to the natural variation of animals moving through their home range ormeasurement error in plant or animal...

  1. Climate change velocity since the Last Glacial Maximum and its importance for patterns of species richness and range size

    DEFF Research Database (Denmark)

    Sandel, Brody Steven; Arge, Lars Allan; Svenning, J.-C.

    these predictions using global data on mammal and amphibian distributions. Consistent with our predictions, richness of small-ranged species of both groups was negatively associated with velocity. Velocity generally explained more variation in richness than did the simple climate anomaly. Climate velocity appears...... to capture an important historical signal on current mammal and amphibian distributions....

  2. Home range size and habitat-use pattern of nesting prairie falcons near oil developments in northeastern Wyoming

    Science.gov (United States)

    John R. Squires; Stanley H. Anderson; Robert Oakleaf

    1993-01-01

    Movements and habitat-use patterns were evaluated for a small population (n = 6 pairs) of Prairie Falcons (Falco mexicanus) nesting near Gillette, Wyoming. A total of 2462 falcon relocations was documented through telemetry. The average (n = 6) harmonic-mean 95%-contour home-range was 69 km2, whereas the average 75% contour was 26.6 km2. The convex polygon...

  3. The effect of kauri (Agathis australis) on grain size distribution and clay mineralogy of andesitic soils in the Waitakere Ranges, New Zealand

    NARCIS (Netherlands)

    Jongkind, A.G.; Buurman, P.

    2006-01-01

    Kauri (Agathis australis) is generally associated with intense podzolisation, but little research has been carried out to substantiate this. We studied soil profiles, grain size distribution patterns and clay mineralogy under kauri and broadleaf/tree fern vegetation in the Waitakere Ranges, North

  4. Is the Recently Proposed Mars-Sized Perturber at 65–80 AU Ruled Out by the Cassini Ranging Data?

    Directory of Open Access Journals (Sweden)

    Lorenzo Iorio

    2017-10-01

    Full Text Available Recently, the existence of a pointlike pertuber PX with 1 m♂ ≲ mX ≲ 2.4 m⊕ (the symbol “♂” denotes Mars supposedly moving at 65–80 AU along a moderately inclined orbit has been hypothesized in order to explain certain features of the midplane of the Kuiper Belt Objects (KBOs. We preliminarily selected two possible scenarios for such a PX, and numerically simulated its effect on the Earth-Saturn range ρ(t by varying some of its orbital parameters over a certain time span; then, we compared our results with some existing actual range residuals. By assuming mX = 1 m♂ and a circular orbit, such a putative new member of our Solar System would nominally perturb ρ(t by a few km over Δt = 12 year (2004 − 2016. However, the Cassini spacecraft accurately measured ρ(t to the level of σρ ≃ 100 m. Nonetheless, such a scenario should not be considered as necessarily ruled out since the Cassini data were reduced so far without explicitly modeling any PX. Indeed, a NASA JPL team recently demonstrated that an extra-signature as large as 4 km affecting the Kronian range would be almost completely absorbed in fitting incomplete dynamical models, i.e., without PX itself, to such simulated data, thus not showing up in the standard post-fit range residuals. Larger anomalous signatures would instead occur for mX > 1 m♂. Their nominal amplitude could be as large as 50 − 150 km for mX = 2.4 m⊕, thus making less plausible their existence.

  5. Familial aggregation and heritability of pyloric stenosis.

    Science.gov (United States)

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

    2010-06-16

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

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

    Science.gov (United States)

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

    2014-10-21

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

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

    Science.gov (United States)

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

    2014-01-01

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

  8. [Altitudinal patterns of species richness and species range size of vascular plants in Xiaolong- shan Reserve of Qinling Mountain: a test of Rapoport' s rule].

    Science.gov (United States)

    Zheng, Zhi; Gong, Da-Jie; Sun, Cheng-Xiang; Li, Xiao-Jun; Li, Wan-Jiang

    2014-09-01

    Altitudinal patterns of species richness and species range size and their underlying mechanisms have long been a key topic in biogeography and biodiversity research. Rapoport's rule stated that the species richness gradually declined with the increasing altitude, while the species ranges became larger. Using altitude-distribution database from Xiaolongshan Reverse, this study explored the altitudinal patterns of vascular plant species richness and species range in Qinling Xiaolongshan Reserve, and examined the relationships between species richness and their distributional middle points in altitudinal bands for different fauna, taxonomic units and growth forms and tested the Rapoport's rule by using Stevens' method, Pagel's method, mid-point method and cross-species method. The results showed that the species richness of vascular plants except small-range species showed a unimodal pattern along the altitude in Qinling Xiaolongshan Reserve and the highest proportion of small-range species was found at the lower altitudinal bands and at the higher altitudinal bands. Due to different assemblages and examining methods, the relationships between species distributing range sizes and the altitudes were different. Increasing taxonomic units was easier to support Rapoport's rule, which was related to niche differences that the different taxonomic units occupied. The mean species range size of angiosperms showed a unimodal pattern along the altitude, while those of the gymnosperms and pteridophytes were unclearly regular. The mean species range size of the climbers was wider with the increasing altitude, while that of the shrubs which could adapt to different environmental situations was not sensitive to the change of altitude. Pagel's method was easier to support the Rapoport's rule, and then was Steven's method. On the contrary, due to the mid-domain effect, the results of the test by using the mid-point method showed that the mean species range size varied in a unimodal

  9. 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...

  10. Aphid Heritable Symbiont Exploits Defensive Mutualism.

    Science.gov (United States)

    Doremus, Matthew R; Oliver, Kerry M

    2017-04-15

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

  11. Familial aggregation and heritability of pyloric stenosis

    DEFF Research Database (Denmark)

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

    2010-01-01

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

  12. Nanoporous anodic aluminum oxide with a long-range order and tunable cell sizes by phosphoric acid anodization on pre-patterned substrates

    Science.gov (United States)

    Surawathanawises, Krissada; Cheng, Xuanhong

    2014-01-01

    Nanoporous anodic aluminum oxide (AAO) has been explored for various applications due to its regular cell arrangement and relatively easy fabrication processes. However, conventional two-step anodization based on self-organization only allows the fabrication of a few discrete cell sizes and formation of small domains of hexagonally packed pores. Recent efforts to pre-pattern aluminum followed with anodization significantly improve the regularity and available pore geometries in AAO, while systematic study of the anodization condition, especially the impact of acid composition on pore formation guided by nanoindentation is still lacking. In this work, we pre-patterned aluminium thin films using ordered monolayers of silica beads and formed porous AAO in a single-step anodization in phosphoric acid. Controllable cell sizes ranging from 280 nm to 760 nm were obtained, matching the diameters of the silica nanobead molds used. This range of cell size is significantly greater than what has been reported for AAO formed in phosphoric acid in the literature. In addition, the relationships between the acid concentration, cell size, pore size, anodization voltage and film growth rate were studied quantitatively. The results are consistent with the theory of oxide formation through an electrochemical reaction. Not only does this study provide useful operational conditions of nanoindentation induced anodization in phosphoric acid, it also generates significant information for fundamental understanding of AAO formation. PMID:24535886

  13. Validity of Dynamic Light Scattering Method to Analyze a Range of Gold and Copper Nanoparticle Sizes Attained by Solids Laser Ablation in Liquid

    Directory of Open Access Journals (Sweden)

    Yu. V. Golubenko

    2014-01-01

    Full Text Available Nanoparticles of metals possess a whole series of features, concerned with it’s sizes, this leads to appearing or unusual electromagnetic and optical properties, which are untypical for particulates.An extended method of receiving nanoparticles by means of laser radiation is pulse laser ablation of hard targets in liquid medium.Varying the parameters of laser radiation, such as wavelength of laser radiation, energy density, etc., we can operate the size and shape of the resultant particles.The greatest trend of application in medicine have the nanoparticles of iron, copper, silver, silicon, magnesium, gold and zinc.The subject matter in this work is nanoparticles of copper and gold, received by means of laser ablation of hard targets in liquid medium.The aim of exploration, represented in the article, is the estimation of application of the dynamic light scattering method for determination of the range of nanoparticles sizes in the colloidal solution.For studying of the laser ablation process was chosen the second harmonic of Nd:YAG laser with the wavelength of 532 nm. Special attention was spared for the description of the experiment technique of receiving of nanoparticles.As the liquid medium ethanol and distillation water were used.For exploration of the received colloidal system have been used the next methods: DLS, transmission electron microscopy (TEM and scanning electron microscopy (SEM.The results of measuring by DLS method showed that colloidal solution of the copper in the ethanol is the steady system. Copper nanoparticle’s size reaches 200 nm and is staying in the same size for some time.Received system from the gold’s nanoparticles is polydisperse, unsteady and has a big range of the nanoparticle’s sizes. This fact was confirmed by means of photos, got from the TEM FEI Tecnai G2F20 + GIF and SEM Helios NanoLab 660. The range of the gold nanoparticle’s sizes is from 5 to 60 nm. So, it has been proved that the DLS method is

  14. Enrichment and distribution of 24 elements within the sub-sieve particle size distribution ranges of fly ash from wastes incinerator plants.

    Science.gov (United States)

    Raclavská, Helena; Corsaro, Agnieszka; Hartmann-Koval, Silvie; Juchelková, Dagmar

    2017-12-01

    The management of an increasing amount of municipal waste via incineration has been gaining traction. Fly ash as a by-product of incineration of municipal solid waste is considered a hazardous waste due to the elevated content of various elements. The enrichment and distribution of 24 elements in fly ash from three wastes incinerators were evaluated. Two coarse (>100 μm and particle size fractions separated on a cyclosizer system were analyzed. An enhancement in the enrichment factor was observed in all samples for the majority of elements in >100 μm range compared with particle size ranges. These variations were attributed primarily to: (i) the vaporization and condensation mechanisms, (ii) the different design of incineration plants, (iii) incineration properties, (iv) the type of material being incinerated, and (v) the affinity of elements. Copyright © 2017 Elsevier Ltd. All rights reserved.

  15. Heritability of naevus patterns in an adult twin cohort from the Brisbane Twin Registry: a cross-sectional study.

    Science.gov (United States)

    Lee, S; Duffy, D L; McClenahan, P; Lee, K J; McEniery, E; Burke, B; Jagirdar, K; Martin, N G; Sturm, R A; Soyer, H P; Schaider, H

    2016-02-01

    Heritability of naevi counts is widely acknowledged as a potential surveillance parameter for prevention purposes. The contribution of heritability to the changes seen in naevus number and morphology over time and their corresponding dermoscopic characteristics is unknown, but is important to understand in order to account for adequate prevention measures. To identify naevus characteristics that are strongly influenced by heritability. This cross-sectional study included 220 individuals [76 monozygotic (MZ), 144 dizygotic (DZ)], recruited from the Brisbane Twin Naevus Study. Participants received full body imaging and dermoscopy of naevi ≥ 5 mm in diameter. Dermoscopic type, total naevus count (TNC), change in TNC with age, and naevus distribution, size, colour and profile were compared between MZ and DZ twins. Heritability of these traits was assessed via Falconer's estimate. Significant differences were found in comparing MZ and DZ twins for TNC, numbers of naevi 5·0-7·9 mm in diameter, counts of light-brown naevi, naevi on the back and sun-protected sites, and naevi with the 'nonspecific' dermoscopic pattern. This study strongly supports a heritable component to TNC, as well as changes in TNC, and the number of medium-sized naevi, light-brown naevi, specific sites and certain dermoscopic features in adults. These characteristics should be taken into account by naevus surveillance programmes and further studied to identify candidate gene associations for clinical and dermoscopic patterns in conjunction with melanoma risk stratification. © 2015 British Association of Dermatologists.

  16. 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...

  17. 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.

  18. Variability in the heritability of body mass index: a systematic review and meta-regression

    Directory of Open Access Journals (Sweden)

    Cathy E Elks

    2012-02-01

    Full Text Available Evidence for a major role of genetic factors in the determination of body mass index (BMI comes from studies of related individuals. However, heritability estimates for BMI vary widely between studies and the reasons for this remain unclear. While some variation is natural due to differences between populations and settings, study design factors may also explain some of the heterogeneity. We performed a systematic review that identified eighty-eight independent estimates of BMI heritability from twin studies (total 140,525 twins and twenty-seven estimates from family studies (42,968 family members. BMI heritability estimates from twin studies ranged from 0.47 to 0.90 (5th/50th/95th centiles: 0.58/0.75/0.87 and were generally higher than those from family studies (range: 0.24-0.81; 5th/50th/95th centiles: 0.25/0.46/0.68. Meta-regression of the results from twin studies showed that BMI heritability estimates were 0.07 (P=0.001 higher in children than in adults; estimates increased with mean age among childhood studies (+0.012 per year, P=0.002, but decreased with mean age in adult studies (-0.002 per year, P=0.002. Heritability estimates derived from AE twin models (which assume no contribution of shared environment were 0.12 higher than those from ACE models (P<0.001, whilst lower estimates were associated with self-reported versus DNA-based determination of zygosity (-0.04, P=0.02, and with self-reported versus measured BMI (-0.05, P=0.03. Together, the above factors explained 47% of the heterogeneity in estimates of BMI heritability from twin studies. In summary, while some variation in BMI heritability is expected due to population-level differences, study design factors explained nearly half the heterogeneity reported in twin studies. The genetic contribution to BMI appears to vary with age and may have a greater influence during childhood than adult life.

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

    African Journals Online (AJOL)

    GRACE

    2006-07-03

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

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

    African Journals Online (AJOL)

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

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

    Science.gov (United States)

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

    2010-04-01

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

  2. Human somatic, germinal and heritable mutagenicity

    Energy Technology Data Exchange (ETDEWEB)

    Mendelsohn, M.L.

    1987-05-01

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

  3. Epigenetic variation, phenotypic heritability, and evolution

    DEFF Research Database (Denmark)

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

    2014-01-01

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

  4. Sex-differences in heritability of BMI

    DEFF Research Database (Denmark)

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

    2003-01-01

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

  5. Heritability of working memory brain activation.

    Science.gov (United States)

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

    2011-07-27

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

  6. Heritability estimates of methane emissions from sheep.

    Science.gov (United States)

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

    2013-06-01

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

  7. 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.

  8. Genetic parameters for litter size in sheep: natural versus hormone-induced oestrus

    Directory of Open Access Journals (Sweden)

    Bodin Loys

    2004-09-01

    Full Text Available Abstract The litter size in Suffolk and Texel-sheep was analysed using REML and Bayesian methods. Litters born after hormonal induced oestrus and after natural oestrus were treated as different traits in order to estimate the genetic correlation between the traits. Explanatory variables were the age of the ewe at lambing, period of lambing, a year*flock-effect, a permanent environmental effect associated with the ewe, and the additive genetic effect. The heritability estimates for litter size ranged from 0.06 to 0.13 using REML in bi-variate linear models. Transformation of the estimates to the underlying scale resulted in heritability estimates from 0.12 to 0.17. Posterior means of the heritability of litter size in the Bayesian approach with bi-variate threshold models varied from 0.05 to 0.18. REML estimates of the genetic correlations between the two types of litter size ranged from 0.57 to 0.64 in the Suffolk and from 0.75 to 0.81 in the Texel. The posterior means of the genetic correlation (Bayesian analysis were 0.40 and 0.44 for the Suffolk and 0.56 and 0.75 for the Texel in the sire and animal model respectively. A bivariate threshold model seems appropriate for the genetic evaluation of prolificacy in the breeds concerned.

  9. Generalized Mittag-Leffler functions in the theory of finite-size scaling for systems with strong anisotropy and/or long-range interaction

    Energy Technology Data Exchange (ETDEWEB)

    Chamati, H; Tonchev, N S [Institute of Solid State Physics, 72 Tzarigradsko Chaussee, 1784 Sofia (Bulgaria)

    2006-01-20

    The difficulties arising in the investigation of finite-size scaling in d-dimensional O(n) systems with strong anisotropy and/or long-range interaction, decaying with the interparticle distance r as r{sup -d-{sigma}}(0 < {sigma} {<=} 2), are discussed. Some integral representations aiming at the simplification of the investigations are presented for the classical and quantum lattice sums that take place in the theory. Special attention is paid to a more general form allowing to treat both cases on an equal footing and in addition cases with strong anisotropic interactions and different geometries. The analysis is simplified further by expressing this general form in terms of a generalization of the Mittag-Leffler special functions. This turned out to be very useful for the extraction of asymptotic finite-size behaviours of the thermodynamic functions.

  10. Heritabilities and genetic correlations between fetlock, hock and stifle osteochondrosis and fetlock osteochondral fragments in Hanoverian Warmblood horses.

    Science.gov (United States)

    Hilla, D; Distl, O

    2014-02-01

    The main objective of this study is to estimate genetic parameters for osteochondrosis (OC) and osteochondrosis dissecans (OCD) in fetlock, hock and stifle joints as well as for palmar or plantar osteochondral fragments (POFs) and dorsodistal osteochondral fragments (DOFs) in fetlock joints. For this purpose, the results of a standardized radiographic examination of 7396 Hanoverian Warmblood horses were used. Heritabilities and genetic correlations were estimated using residual maximum likelihood (REML) under a linear animal model. Heritability estimates for OC at the different joints were at 0.17-0.34, for OCD at 0.16-0.46, for POFs at 0.19 and for DOFs at 0.22 after transformation onto the liability scale. For osteochondral fragments (OFs), lower heritabilities were estimated, especially in fetlock joints. POFs were genetically negatively correlated with OC in each joint. The size of the heritability estimates indicates that the prevalence of these radiographic findings can be reduced by breeding measures. However, differentiation among the different clinical entities is crucial to avoid underestimation of heritabilities. The analysis of genetic parameters performed in this study indicates that OC and OCD in fetlock, OC and OCD in hock, OC and OCD in stifle joints, POFs of the hindlimbs and DOFs may be treated as different traits. © 2013 Blackwell Verlag GmbH.

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

    Science.gov (United States)

    Wicherts, Jelte M.; Johnson, Wendy

    2009-01-01

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

  12. Dingoes at the Doorstep: Home Range Sizes and Activity Patterns of Dingoes and Other Wild Dogs around Urban Areas of North-Eastern Australia

    Directory of Open Access Journals (Sweden)

    Alice T. McNeill

    2016-08-01

    Full Text Available Top-predators around the world are becoming increasingly intertwined with humans, sometimes causing conflict and increasing safety risks in urban areas. In Australia, dingoes and dingo×domesticdoghybridsarecommoninmanyurbanareas,andposeavarietyofhumanhealth and safety risks. However, data on urban dingo ecology is scant. We GPS-collared 37 dingoes in north-easternAustraliaandcontinuouslymonitoredthemeach30minfor11–394days. Mostdingoes were nocturnal, with an overall mean home range size of 17.47 km2. Overall mean daily distance travelled was 6.86 km/day. At all times dingoes were within 1000 m of houses and buildings. Home ranges appeared to be constrained to patches of suitable vegetation fragments within and around human habitation. These data can be used to reallocate dingo management effort towards mitigating actual conflicts between humans and dingoes in urban areas.

  13. Dingoes at the Doorstep: Home Range Sizes and Activity Patterns of Dingoes and Other Wild Dogs around Urban Areas of North-Eastern Australia.

    Science.gov (United States)

    McNeill, Alice T; Leung, Luke K-P; Goullet, Mark S; Gentle, Matthew N; Allen, Benjamin L

    2016-08-16

    Top-predators around the world are becoming increasingly intertwined with humans, sometimes causing conflict and increasing safety risks in urban areas. In Australia, dingoes and dingo×domesticdoghybridsarecommoninmanyurbanareas,andposeavarietyofhumanhealth and safety risks. However, data on urban dingo ecology is scant. We GPS-collared 37 dingoes in north-easternAustraliaandcontinuouslymonitoredthemeach30minfor11-394days. Mostdingoes were nocturnal, with an overall mean home range size of 17.47 km2. Overall mean daily distance travelled was 6.86 km/day. At all times dingoes were within 1000 m of houses and buildings. Home ranges appeared to be constrained to patches of suitable vegetation fragments within and around human habitation. These data can be used to reallocate dingo management effort towards mitigating actual conflicts between humans and dingoes in urban areas.

  14. Smaller, scale-free gene networks increase quantitative trait heritability and result in faster population recovery.

    Directory of Open Access Journals (Sweden)

    Jacob W Malcom

    Full Text Available One of the goals of biology is to bridge levels of organization. Recent technological advances are enabling us to span from genetic sequence to traits, and then from traits to ecological dynamics. The quantitative genetics parameter heritability describes how quickly a trait can evolve, and in turn describes how quickly a population can recover from an environmental change. Here I propose that we can link the details of the genetic architecture of a quantitative trait--i.e., the number of underlying genes and their relationships in a network--to population recovery rates by way of heritability. I test this hypothesis using a set of agent-based models in which individuals possess one of two network topologies or a linear genotype-phenotype map, 16-256 genes underlying the trait, and a variety of mutation and recombination rates and degrees of environmental change. I find that the network architectures introduce extensive directional epistasis that systematically hides and reveals additive genetic variance and affects heritability: network size, topology, and recombination explain 81% of the variance in average heritability in a stable environment. Network size and topology, the width of the fitness function, pre-change additive variance, and certain interactions account for ∼75% of the variance in population recovery times after a sudden environmental change. These results suggest that not only the amount of additive variance, but importantly the number of loci across which it is distributed, is important in regulating the rate at which a trait can evolve and populations can recover. Taken in conjunction with previous research focused on differences in degree of network connectivity, these results provide a set of theoretical expectations and testable hypotheses for biologists working to span levels of organization from the genotype to the phenotype, and from the phenotype to the environment.

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

    Science.gov (United States)

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

    2017-06-15

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

  16. Evaluation of the size segregation of elemental carbon (EC emission in Europe: influence on the simulation of EC long-range transportation

    Directory of Open Access Journals (Sweden)

    Y. Chen

    2016-02-01

    Full Text Available Elemental Carbon (EC has a significant impact on human health and climate change. In order to evaluate the size segregation of EC emission in the EUCAARI inventory and investigate its influence on the simulation of EC long-range transportation in Europe, we used the fully coupled online Weather Research and Forecasting/Chemistry model (WRF-Chem at a resolution of 2 km focusing on a region in Germany, in conjunction with a high-resolution EC emission inventory. The ground meteorology conditions, vertical structure and wind pattern were well reproduced by the model. The simulations of particle number and/or mass size distributions were evaluated with observations at the central European background site Melpitz. The fine mode particle concentration was reasonably well simulated, but the coarse mode was substantially overestimated by the model mainly due to the plume with high EC concentration in coarse mode emitted by a nearby point source. The comparisons between simulated EC and Multi-angle Absorption Photometers (MAAP measurements at Melpitz, Leipzig-TROPOS and Bösel indicated that the coarse mode EC (ECc emitted from the nearby point sources might be overestimated by a factor of 2–10. The fraction of ECc was overestimated in the emission inventory by about 10–30 % for Russia and 5–10 % for Eastern Europe (e.g., Poland and Belarus. This incorrect size-dependent EC emission results in a shorter atmospheric life time of EC particles and inhibits the long-range transport of EC. A case study showed that this effect caused an underestimation of 20–40 % in the EC mass concentration in Germany under eastern wind pattern.

  17. Environmental variation partitioned into separate heritable components.

    Science.gov (United States)

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

    2018-01-01

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

  18. Efficient and heritable transformation of Phalaenopsis orchids.

    Science.gov (United States)

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

    2016-12-01

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

  19. Heritability and phenotypic variation of canine hip dysplasia radiographic traits in a cohort of Australian German shepherd dogs.

    Directory of Open Access Journals (Sweden)

    Bethany J Wilson

    Full Text Available Canine Hip Dysplasia (CHD is a common, painful and debilitating orthopaedic disorder of dogs with a partly genetic, multifactorial aetiology. Worldwide, potential breeding dogs are evaluated for CHD using radiographically based screening schemes such as the nine ordinally-scored British Veterinary Association Hip Traits (BVAHTs. The effectiveness of selective breeding based on screening results requires that a significant proportion of the phenotypic variation is caused by the presence of favourable alleles segregating in the population. This proportion, heritability, was measured in a cohort of 13,124 Australian German Shepherd Dogs born between 1976 and 2005, displaying phenotypic variation for BVAHTs, using ordinal, linear and binary mixed models fitted by a Restricted Maximum Likelihood method. Heritability estimates for the nine BVAHTs ranged from 0.14-0.24 (ordinal models, 0.14-0.25 (linear models and 0.12-0.40 (binary models. Heritability for the summed BVAHT phenotype was 0.30 ± 0.02. The presence of heritable variation demonstrates that selection based on BVAHTs has the potential to improve BVAHT scores in the population. Assuming a genetic correlation between BVAHT scores and CHD-related pain and dysfunction, the welfare of Australian German Shepherds can be improved by continuing to consider BVAHT scores in the selection of breeding dogs, but that as heritability values are only moderate in magnitude the accuracy, and effectiveness, of selection could be improved by the use of Estimated Breeding Values in preference to solely phenotype based selection of breeding animals.

  20. Heritability and phenotypic variation of canine hip dysplasia radiographic traits in a cohort of Australian German shepherd dogs.

    Science.gov (United States)

    Wilson, Bethany J; Nicholas, Frank W; James, John W; Wade, Claire M; Tammen, Imke; Raadsma, Herman W; Castle, Kao; Thomson, Peter C

    2012-01-01

    Canine Hip Dysplasia (CHD) is a common, painful and debilitating orthopaedic disorder of dogs with a partly genetic, multifactorial aetiology. Worldwide, potential breeding dogs are evaluated for CHD using radiographically based screening schemes such as the nine ordinally-scored British Veterinary Association Hip Traits (BVAHTs). The effectiveness of selective breeding based on screening results requires that a significant proportion of the phenotypic variation is caused by the presence of favourable alleles segregating in the population. This proportion, heritability, was measured in a cohort of 13,124 Australian German Shepherd Dogs born between 1976 and 2005, displaying phenotypic variation for BVAHTs, using ordinal, linear and binary mixed models fitted by a Restricted Maximum Likelihood method. Heritability estimates for the nine BVAHTs ranged from 0.14-0.24 (ordinal models), 0.14-0.25 (linear models) and 0.12-0.40 (binary models). Heritability for the summed BVAHT phenotype was 0.30 ± 0.02. The presence of heritable variation demonstrates that selection based on BVAHTs has the potential to improve BVAHT scores in the population. Assuming a genetic correlation between BVAHT scores and CHD-related pain and dysfunction, the welfare of Australian German Shepherds can be improved by continuing to consider BVAHT scores in the selection of breeding dogs, but that as heritability values are only moderate in magnitude the accuracy, and effectiveness, of selection could be improved by the use of Estimated Breeding Values in preference to solely phenotype based selection of breeding animals.

  1. Childhood and adolescent anxiety and depression: beyond heritability

    NARCIS (Netherlands)

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

    2010-01-01

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

  2. Childhood and Adolescent Anxiety and Depression: Beyond Heritability

    NARCIS (Netherlands)

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

    2010-01-01

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

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

    Science.gov (United States)

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

    2002-12-01

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

  4. 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

  5. Body size declines despite positive directional selection on heritable size traits in a barnacle goose population

    NARCIS (Netherlands)

    Larsson, K; van der Jeugd, HP; van der Veen, IT; Forslund, P

    Analyses of more than 2000 marked barnacle geese (Branta leucopsis) in the largest Baltic colony, Sweden, showed that structurally large females generally produced larger clutches and larger eggs, hatched their broods earlier in the season, and produced more and heavier-young than smaller females.

  6. 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.

  7. 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.

  8. Heritability of compulsive Internet use in adolescents

    Science.gov (United States)

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

    2015-01-01

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

  9. Superheated Water Atomization: Some New Aspects of Control and Determining Disperse Characteristics of Atomization Plume in Micron and Submicron Ranges of Droplet Size*

    Science.gov (United States)

    Zalkind, V. I.; Zeigarnik, Yu. A.; Nizovskiy, V. L.; Nizovskiy, L. V.; Schigel, S. S.

    2017-11-01

    New experimental data on superheated water atomization is presented. It is shown that in contrast to the case of short cylindrical nozzles, which provide bimodal water-droplet sprays, the application of divergent nozzles makes it possible to obtain one-modal water atomization with droplets of about micron diameter being obtained. This fact is due to changes in the mechanism of superheated water jet fragmentation and it is very important for engineering applications. A modified experimental technique for processing integral monochromatic scattering indicatrix was developed and tested. In addition, a new calculation code was worked out for calculating atomized water drop-size distribution (on the basis of Mi theory) in micron and submicron ranges.

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

    NARCIS (Netherlands)

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

    2015-01-01

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

  11. Rate of transformation and normal range about cardiac size and cardiothoracic ratio according to patient position and age at chest radiography of Korean adult man

    Energy Technology Data Exchange (ETDEWEB)

    Joo, Young Cheol [Dept. of Radiology, Samsung Medical Center, Seoul (Korea, Republic of); Lim, Cheong Hwan; Jung, Hong Ryang [Dept. of Radiological Science, Hanseo University, Seosan (Korea, Republic of); Kim, Yun Min [Dept. of Radiotechnology, Wonkwang Health Science University, Iksan (Korea, Republic of); Hong, Dong Hee [Dept. of Radiological Science, Far East University, Eumseong (Korea, Republic of)

    2017-06-15

    Purpose of this study is present the normal range of cardiac size and cardiothoracic ratio according to patient position(chest PA and AP) and age of Korean adult male on digital chest X - ray, And to propose a mutually compatible conversion rate. 1,024 males were eligible for this study, among 1,300 normal chest patients who underwent chest PA and low-dose CT examinations on the same day at the 'S' Hospital Health Examination Center in Seoul From January to December 2014. CS and CTR were measured by Danzer (1919). The mean difference between CS and CTR was statistically significant (p<0.01) in Chest PA (CS 135.48 mm, CTR 43.99%) and Chest AP image (CS 155.96 mm, CTR 51.75%). There was no statistically significant difference between left and right heart in chest PA and AP images(p>0.05). CS showed statistically significant difference between Chest PA (p>0. 05) and Chest AP (p<0.05). The thorax size and CTR were statistically significant (p<0.01) in both age and chest PA and AP. Result of this study, On Chest AP image CS was magnified 15%, CTR was magnified 17% compare with Chest PA image. CS and CTR were about 10% difference by changing posture at all ages.

  12. Computer-assisted 2-D agarose electrophoresis of Haemophilus influenzae type B meningitis vaccines and analysis of polydisperse particle populations in the size range of viruses: a review.

    Science.gov (United States)

    Tietz, Dietmar

    2007-02-01

    When protein-polysaccharide conjugated vaccines were first developed for the immunization of small children against meningitis caused by infection with Haemophilus influenzae type b (Hib), the vaccine preparations varied in immunogenicity. Testing for immunogenicity was time-consuming and alternative analytical procedures for determining vaccine quality were unsatisfactory. For example, due to the very high molecular weight of the vaccine particles, immunogens could only be physically characterized as a fraction in the void volume of Sepharose gel filtration. In search of better analytical methods, a computer-assisted electrophoretic technique for analyzing such vaccines was developed in the period from 1983 to 1995. This new approach made it possible to analyze highly negatively charged particles as large as or larger than intact viruses. 2-D gel patterns were generated that varied depending on the conditions of the particular vaccine preparation and were therefore characteristic of each vaccine sample. Thus, vaccine particle populations with a continuous size variation over a wide range (polydisperse) could be characterized according to size and free mobility (related to particle surface net charge density). These advances are reviewed in this article, since the developed methods are still a promising tool for vaccine quality control and for predicting immunogen effectiveness in the production of vaccines. The technique is potentially beneficial for Hib immunogens and other high-molecular-mass vaccines. Additional biomedical applications for this nondenaturing electrophoretic technique are briefly discussed and detailed information about computational and mathematical procedures and theoretical aspects is provided in the Appendices.

  13. Characteristics of dimethylaminium and trimethylaminium in atmospheric particles ranging from supermicron to nanometer sizes over eutrophic marginal seas of China and oligotrophic open oceans.

    Science.gov (United States)

    Yu, Peiran; Hu, Qingjing; Li, Kai; Zhu, Yujiao; Liu, Xiaohuan; Gao, Huiwang; Yao, Xiaohong

    2016-12-01

    In this study, we characterized dimethylaminium (DMA+) and trimethylaminium (TMA+) in size-segregated atmospheric particles during three cruise campaigns in the marginal seas of China and one cruise campaign mainly in the northwest Pacific Ocean (NWPO). An 14-stage nano-MOUDI sampler was utilized for sampling atmospheric particles ranging from 18μm to 0.010μm. Among the four cruise campaigns, the highest concentrations of DMA+ and TMA+ in PM10 were observed over the South Yellow Sea (SYS) in August 2015, i.e., 0.76±0.12nmolm-3 for DMA+ (average value±standard deviation) and 0.93±0.13nmolm-3 for TMA+. The lowest values were observed over the NWPO in April 2015, i.e., 0.28±0.16nmolm-3 for DMA+ and 0.22±0.12nmolm-3 for TMA+. In general, size distributions of the two ions exhibited a bi-modal pattern, i.e., one mode at 0.01-0.1μm and the other at 0.1-1.8μm. The two ions' mode at 0.01-0.1μm was firstly observed. The mode was largely enhanced in samples collected over the SYS in August 2015, leading to high mole ratios of (DMA++TMA+)/NH4+ in PM0.1 (0.4±0.8, median value±standard deviation) and the ions' concentrations in PM0.1 accounting for ~10% and ~40% of their corresponding concentrations in PM10. This implied that (DMA++TMA+) likely played an important role in neutralizing acidic species in the smaller particles. Using SO42-, NO3- and NH4+ as references, we confirm that the elevated concentrations of DMA+ and TMA+ in the 0.01-0.1μm size range were probably real signals rather than sampling artifacts. Copyright © 2016 Elsevier B.V. All rights reserved.

  14. Heritability of Problem Drinking and the Genetic Overlap with Personality in a General Population Sample

    Science.gov (United States)

    de Moor, Marleen H. M.; Vink, Jacqueline M.; van Beek, Jenny H. D. A.; Geels, Lot M.; Bartels, Meike; de Geus, Eco J. C.; Willemsen, Gonneke; Boomsma, Dorret I.

    2011-01-01

    This study examined the heritability of problem drinking and investigated the phenotypic and genetic relationships between problem drinking and personality. In a sample of 5,870 twins and siblings and 4,420 additional family members from the Netherlands Twin Register. Data on problem drinking (assessed with the AUDIT and CAGE; 12 items) and personality [NEO Five-Factor Inventory (FFI); 60 items] were collected in 2009/2010 by surveys. Confirmatory factor analysis on the AUDIT and CAGE items showed that the items clustered on two separate but highly correlated (r = 0.74) underlying factors. A higher-order factor was extracted that reflected those aspects of problem drinking that are common to the AUDIT and CAGE, which showed a heritability of 40%. The correlations between problem drinking and the five dimensions of personality were small but significant, ranging from 0.06 for Extraversion to −0.12 for Conscientiousness. All personality dimensions (with broad-sense heritabilities between 32 and 55%, and some evidence for non-additive genetic influences) were genetically correlated with problem drinking. The genetic correlations were small to modest (between |0.12| and |0.41|). Future studies with longitudinal data and DNA polymorphisms are needed to determine the biological mechanisms that underlie the genetic link between problem drinking and personality. PMID:22303371

  15. Dietary patterns and heritability of food choice in a UK female twin cohort.

    Science.gov (United States)

    Teucher, Birgit; Skinner, Jane; Skidmore, Paula M L; Cassidy, Aedin; Fairweather-Tait, Susan J; Hooper, Lee; Roe, Mark A; Foxall, Robert; Oyston, Sarah L; Cherkas, Lynn F; Perks, Ursula C; Spector, Tim D; MacGregor, Alex J

    2007-10-01

    To examine the contribution of genetic factors to food choice, we determined dietary patterns from food frequency questionnaires in 3262 UK female twins aged 18 to 79 years. Five distinct dietary patterns were identified (fruit and vegetable, high alcohol, traditional English, dieting, low meat) that accounted for 22% of the total variance. These patterns are similar to those found in other singleton Western populations, and were related to body mass index, smoking status, physical activity and deprivation scores. Older subjects had higher scores on the fruit and vegetable and traditional English patterns, while lower social deprivation was associated with higher scores for fruit and vegetable, and lower scores for traditional English patterns. All 5 patterns were heritable, with estimates ranging from 41% to 48%. Among individual dietary components, a strongly heritable component was identified for garlic (46%), coffee (41%), fruit and vegetable sources (49%), and red meat (39%). Our results indicate that genetic factors have an important influence in determining food choice and dietary habits in Western populations. The relatively high heritability of specific dietary components implicates taste perception as a possible target for future genetic studies.

  16. 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. 

  17. 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

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

    NARCIS (Netherlands)

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

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

  19. 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

  20. 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

    Science.gov (United States)

    Chen, Fang; He, Jing; Zhang, Jianqi; Chen, Gary K.; Thomas, Venetta; Ambrosone, Christine B.; Bandera, Elisa V.; Berndt, Sonja I.; Bernstein, Leslie; Blot, William J.; Cai, Qiuyin; Carpten, John; Casey, Graham; Chanock, Stephen J.; Cheng, Iona; Chu, Lisa; Deming, Sandra L.; Driver, W. Ryan; Goodman, Phyllis; Hayes, Richard B.; Hennis, Anselm J. M.; Hsing, Ann W.; Hu, Jennifer J.; Ingles, Sue A.; John, Esther M.; Kittles, Rick A.; Kolb, Suzanne; Leske, M. Cristina; Monroe, Kristine R.; Murphy, Adam; Nemesure, Barbara; Neslund-Dudas, Christine; Nyante, Sarah; Ostrander, Elaine A; Press, Michael F.; Rodriguez-Gil, Jorge L.; Rybicki, Ben A.; Schumacher, Fredrick; Stanford, Janet L.; Signorello, Lisa B.; Strom, Sara S.; Stevens, Victoria; Van Den Berg, David; Wang, Zhaoming; Witte, John S.; Wu, Suh-Yuh; Yamamura, Yuko; Zheng, Wei; Ziegler, Regina G.; Stram, Alexander H.; Kolonel, Laurence N.; Marchand, Loïc Le; Henderson, Brian E.; Haiman, Christopher A.; Stram, Daniel O.

    2015-01-01

    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 variability

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Science.gov (United States)

    Langeland, M; Lingaas, F

    1995-04-01

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

  3. Heritability of cardiovascular and personality traits in 6,148 Sardinians.

    Directory of Open Access Journals (Sweden)

    Giuseppe Pilia

    2006-08-01

    Full Text Available In family studies, phenotypic similarities between relatives yield information on the overall contribution of genes to trait variation. Large samples are important for these family studies, especially when comparing heritability between subgroups such as young and old, or males and females. We recruited a cohort of 6,148 participants, aged 14-102 y, from four clustered towns in Sardinia. The cohort includes 34,469 relative pairs. To extract genetic information, we implemented software for variance components heritability analysis, designed to handle large pedigrees, analyze multiple traits simultaneously, and model heterogeneity. Here, we report heritability analyses for 98 quantitative traits, focusing on facets of personality and cardiovascular function. We also summarize results of bivariate analyses for all pairs of traits and of heterogeneity analyses for each trait. We found a significant genetic component for every trait. On average, genetic effects explained 40% of the variance for 38 blood tests, 51% for five anthropometric measures, 25% for 20 measures of cardiovascular function, and 19% for 35 personality traits. Four traits showed significant evidence for an X-linked component. Bivariate analyses suggested overlapping genetic determinants for many traits, including multiple personality facets and several traits related to the metabolic syndrome; but we found no evidence for shared genetic determinants that might underlie the reported association of some personality traits and cardiovascular risk factors. Models allowing for heterogeneity suggested that, in this cohort, the genetic variance was typically larger in females and in younger individuals, but interesting exceptions were observed. For example, narrow heritability of blood pressure was approximately 26% in individuals more than 42 y old, but only approximately 8% in younger individuals. Despite the heterogeneity in effect sizes, the same loci appear to contribute to variance

  4. Heritability of Cardiovascular and Personality Traits in 6,148 Sardinians

    Science.gov (United States)

    Scuteri, Angelo; Orrú, Marco; Albai, Giuseppe; Dei, Mariano; Lai, Sandra; Usala, Gianluca; Lai, Monica; Loi, Paola; Mameli, Cinzia; Vacca, Loredana; Deiana, Manila; Olla, Nazario; Masala, Marco; Cao, Antonio; Najjar, Samer S; Terracciano, Antonio; Nedorezov, Timur; Sharov, Alexei; Zonderman, Alan B; Abecasis, Gonçalo R; Costa, Paul; Lakatta, Edward; Schlessinger, David

    2006-01-01

    In family studies, phenotypic similarities between relatives yield information on the overall contribution of genes to trait variation. Large samples are important for these family studies, especially when comparing heritability between subgroups such as young and old, or males and females. We recruited a cohort of 6,148 participants, aged 14–102 y, from four clustered towns in Sardinia. The cohort includes 34,469 relative pairs. To extract genetic information, we implemented software for variance components heritability analysis, designed to handle large pedigrees, analyze multiple traits simultaneously, and model heterogeneity. Here, we report heritability analyses for 98 quantitative traits, focusing on facets of personality and cardiovascular function. We also summarize results of bivariate analyses for all pairs of traits and of heterogeneity analyses for each trait. We found a significant genetic component for every trait. On average, genetic effects explained 40% of the variance for 38 blood tests, 51% for five anthropometric measures, 25% for 20 measures of cardiovascular function, and 19% for 35 personality traits. Four traits showed significant evidence for an X-linked component. Bivariate analyses suggested overlapping genetic determinants for many traits, including multiple personality facets and several traits related to the metabolic syndrome; but we found no evidence for shared genetic determinants that might underlie the reported association of some personality traits and cardiovascular risk factors. Models allowing for heterogeneity suggested that, in this cohort, the genetic variance was typically larger in females and in younger individuals, but interesting exceptions were observed. For example, narrow heritability of blood pressure was approximately 26% in individuals more than 42 y old, but only approximately 8% in younger individuals. Despite the heterogeneity in effect sizes, the same loci appear to contribute to variance in young and old

  5. Phagocytosis of environmental or metabolic crystalline particles induces cytotoxicity by triggering necroptosis across a broad range of particle size and shape.

    Science.gov (United States)

    Honarpisheh, Mohsen; Foresto-Neto, Orestes; Desai, Jyaysi; Steiger, Stefanie; Gómez, Lidia Anguiano; Popper, Bastian; Boor, Peter; Anders, Hans-Joachim; Mulay, Shrikant R

    2017-11-14

    In crystallopathies, crystals or crystalline particles of environmental and metabolic origin deposit within tissues, induce inflammation, injury and cell death and eventually lead to organ-failure. The NLRP3-inflammasome is involved in mediating crystalline particles-induced inflammation, but pathways leading to cell death are still unknown. Here, we have used broad range of intrinsic and extrinsic crystal- or crystalline particle-sizes and shapes, e.g. calcium phosphate, silica, titanium dioxide, cholesterol, calcium oxalate, and monosodium urate. As kidney is commonly affected by crystallopathies, we used human and murine renal tubular cells as a model system. We showed that all of the analysed crystalline particles induce caspase-independent cell death. Deficiency of MLKL, siRNA knockdown of RIPK3, or inhibitors of necroptosis signaling e.g. RIPK-1 inhibitor necrostatin-1s, RIPK3 inhibitor dabrafenib, and MLKL inhibitor necrosulfonamide, partially protected tubular cells from crystalline particles cytotoxicity. Furthermore, we identify phagocytosis of crystalline particles as an upstream event in their cytotoxicity since a phagocytosis inhibitor, cytochalasin D, prevented their cytotoxicity. Taken together, our data confirmed the involvement of necroptosis as one of the pathways leading to cell death in crystallopathies. Our data identified RIPK-1, RIPK3, and MLKL as molecular targets to limit tissue injury and organ failure in crystallopathies.

  6. Large-scale generic test stand for testing of multiple configurations of air filters utilizing a range of particle size distributions

    Science.gov (United States)

    Giffin, Paxton K.; Parsons, Michael S.; Unz, Ronald J.; Waggoner, Charles A.

    2012-05-01

    The Institute for Clean Energy Technology (ICET) at Mississippi State University has developed a test stand capable of lifecycle testing of high efficiency particulate air filters and other filters specified in American Society of Mechanical Engineers Code on Nuclear Air and Gas Treatment (AG-1) filters. The test stand is currently equipped to test AG-1 Section FK radial flow filters, and expansion is currently underway to increase testing capabilities for other types of AG-1 filters. The test stand is capable of producing differential pressures of 12.45 kPa (50 in. w.c.) at volumetric air flow rates up to 113.3 m3/min (4000 CFM). Testing is performed at elevated and ambient conditions for temperature and relative humidity. Current testing utilizes three challenge aerosols: carbon black, alumina, and Arizona road dust (A1-Ultrafine). Each aerosol has a different mass median diameter to test loading over a wide range of particles sizes. The test stand is designed to monitor and maintain relative humidity and temperature to required specifications. Instrumentation is implemented on the upstream and downstream sections of the test stand as well as on the filter housing itself. Representative data are presented herein illustrating the test stand's capabilities. Digital images of the filter pack collected during and after testing is displayed after the representative data are discussed. In conclusion, the ICET test stand with AG-1 filter testing capabilities has been developed and hurdles such as test parameter stability and design flexibility overcome.

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

    Science.gov (United States)

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

    2008-09-05

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

  8. Heritability and quantitative genetic divergence of serotiny, a fire-persistence plant trait.

    Science.gov (United States)

    Hernández-Serrano, Ana; Verdú, Miguel; Santos-Del-Blanco, Luís; Climent, José; González-Martínez, Santiago C; Pausas, Juli G

    2014-09-01

    Although it is well known that fire acts as a selective pressure shaping plant phenotypes, there are no quantitative estimates of the heritability of any trait related to plant persistence under recurrent fires, such as serotiny. In this study, the heritability of serotiny in Pinus halepensis is calculated, and an evaluation is made as to whether fire has left a selection signature on the level of serotiny among populations by comparing the genetic divergence of serotiny with the expected divergence of neutral molecular markers (QST-FST comparison). A common garden of P. halepensis was used, located in inland Spain and composed of 145 open-pollinated families from 29 provenances covering the entire natural range of P. halepensis in the Iberian Peninsula and Balearic Islands. Narrow-sense heritability (h(2)) and quantitative genetic differentiation among populations for serotiny (QST) were estimated by means of an 'animal model' fitted by Bayesian inference. In order to determine whether genetic differentiation for serotiny is the result of differential natural selection, QST estimates for serotiny were compared with FST estimates obtained from allozyme data. Finally, a test was made of whether levels of serotiny in the different provenances were related to different fire regimes, using summer rainfall as a proxy for fire regime in each provenance. Serotiny showed a significant narrow-sense heritability (h(2)) of 0·20 (credible interval 0·09-0·40). Quantitative genetic differentiation among provenances for serotiny (QST = 0·44) was significantly higher than expected under a neutral process (FST = 0·12), suggesting adaptive differentiation. A significant negative relationship was found between the serotiny level of trees in the common garden and summer rainfall of their provenance sites. Serotiny is a heritable trait in P. halepensis, and selection acts on it, giving rise to contrasting serotiny levels among populations depending on the fire regime, and

  9. 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

  10. Heritabilities and genetic correlations in the same traits across different strata of herds created according to continuous genomic, genetic, and phenotypic descriptors.

    Science.gov (United States)

    Yin, Tong; König, Sven

    2017-12-13

    The most common approach in dairy cattle to prove genotype by environment interactions is a multiple-trait model application, and considering the same traits in different environments as different traits. We enhanced such concepts by defining continuous phenotypic, genetic, and genomic herd descriptors, and applying random regression sire models. Traits of interest were test-day traits for milk yield, fat percentage, protein percentage, and somatic cell score, considering 267,393 records from 32,707 first-lactation Holstein cows. Cows were born in the years 2010 to 2013, and kept in 52 large-scale herds from 2 federal states of north-east Germany. The average number of genotyped cows per herd (45,613 single nucleotide polymorphism markers per cow) was 133.5 (range: 45 to 415 genotyped cows). Genomic herd descriptors were (1) the level of linkage disequilibrium (r2) within specific chromosome segments, and (2) the average allele frequency for single nucleotide polymorphisms in close distance to a functional mutation. Genetic herd descriptors were the (1) intra-herd inbreeding coefficient, and (2) the percentage of daughters from foreign sires. Phenotypic herd descriptors were (1) herd size, and (2) the herd mean for nonreturn rate. Most correlations among herd descriptors were close to 0, indicating independence of genomic, genetic, and phenotypic characteristics. Heritabilities for milk yield increased with increasing intra-herd linkage disequilibrium, inbreeding, and herd size. Genetic correlations in same traits between adjacent levels of herd descriptors were close to 1, but declined for descriptor levels in greater distance. Genetic correlation declines were more obvious for somatic cell score, compared with test-day traits with larger heritabilities (fat percentage and protein percentage). Also, for milk yield, alterations of herd descriptor levels had an obvious effect on heritabilities and genetic correlations. By trend, multiple trait model results (based

  11. Urban air quality in a mid-size city - PM2.5 composition, sources and identification of impact areas: From local to long range contributions

    Science.gov (United States)

    Squizzato, Stefania; Cazzaro, Marta; Innocente, Elena; Visin, Flavia; Hopke, Philip K.; Rampazzo, Giancarlo

    2017-04-01

    Urban air quality represents a major public health burden and is a long-standing concern to European citizens. Combustion processes and traffic-related emissions represent the main primary particulate matter (PM) sources in urban areas. Other sources can also affect air quality (e.g., secondary aerosol, industrial) depending on the characteristics of the study area. Thus, the identification and the apportionment of all sources is of crucial importance to make effective corrective decisions within environmental policies. The aim of this study is to evaluate the impacts of different emissions sources on PM2.5 concentrations and compositions in a mid-size city in the Po Valley (Treviso, Italy). Data have been analyzed to highlight compositional differences (elements and major inorganic ions), to determine PM2.5 sources and their contributions, and to evaluate the influence of air mass movements. Non-parametric tests, positive matrix factorization (PMF), conditional bivariate probability function (CBPF), and concentration weighted trajectory (CWT) have been used in a multi-chemometrics approach to understand the areal-scale (proximate, local, long-range) where different sources act on PM2.5 levels and composition. Results identified three levels of scale from which the pollution arose: (i) a proximate local scale (close to the sampling site) for traffic non-exhaust and resuspended dust sources; (ii) a local urban scale (including both sampling site and areas close to them) for combustion and industrial; and (iii) a regional scale characterized by ammonium nitrate and ammonium sulfate. This approach and results can help to develop and adopt better air quality policy action.

  12. The tree balance signature of mass extinction is erased by continued evolution in clades of constrained size with trait-dependent speciation

    OpenAIRE

    Guan-Dong Yang; Paul-Michael Agapow; Gabriel Yedid

    2017-01-01

    The kind and duration of phylogenetic topological "signatures" left in the wake of macroevolutionary events remain poorly understood. To this end, we examined a broad range of simulated phylogenies generated using trait-biased, heritable speciation probabilities and mass extinction that could be either random or selective on trait value, but also using background extinction and diversity-dependence to constrain clade sizes. In keeping with prior results, random mass extinction increased imbal...

  13. Wrong place, wrong time: climate change-induced range shift across fragmented habitat causes maladaptation and declined population size in a modelled bird species

    NARCIS (Netherlands)

    Cobben, M.M.P.; Verboom, J.; Opdam, P.F.M.; Hoekstra, R.F.; Jochem, R.; Smulders, M.J.M.

    2012-01-01

    Many species are locally adapted to decreased habitat quality at their range margins, and therefore show genetic differences throughout their ranges. Under contemporary climate change, range shifts may affect evolutionary processes at the expanding range margin due to founder events. Additionally,

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

    Science.gov (United States)

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

    2014-01-01

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

  15. 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.

  16. Using summary data from the Danish National Registers to estimate heritabilities for schizophrenia, bipolar disorder and major depressive disorder

    Directory of Open Access Journals (Sweden)

    Naomi R Wray

    2012-07-01

    Full Text Available Estimates of heritability of psychiatric disorders quantify the genetic contribution to their etiology. Estimation of these parameters requires affected status on probands and their family members. Traditionally, heritabilities have been estimated from families ascertained from specific hospital registers, but accumulating sufficient numbers of families can be difficult. Larger sample sizes are achievable from national registries, but calculation of heritability from individual level data from these data sets is accompanied by other problems. Here, we use published summary data from a national population-based cohort of > 2.6 million persons in Denmark to estimate heritabilities of schizophrenia, bipolar disorder and major depressive disorder. The summary data comprised cumulative incidences up to 52 years of age for schizophrenia and bipolar disorder and up to 51 years for major depressive disorder in offspring where either one or both parents were diagnosed with one of these disorders. Estimates of the heritabilities of the liability to developing schizophrenia, bipolar disorder and major depressive disorder are 0.67 (95% confidence interval (CI 0.64-0.71, 0.62 (95%CI 0.58-0.65 and 0.32 (95%CI 0.30-0.34 respectively. The estimates may be inflated by common environmental effects, but despite this, they are somewhat lower for schizophrenia and bipolar disorder than those estimated from contemporary twin samples. The lower estimates may reflect the diverse environments (including diagnostic interpretation that contribute to national data, compared to twin/family studies. Our estimates are similar to those estimated previously from national data of Sweden, and they may be more representative of the international samples brought together for large-scale genome-wide association studies. We investigated estimation of genetic correlations from these data. We used simulation to conclude that estimates may not be interpretable and so only report them in

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

    African Journals Online (AJOL)

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

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

    African Journals Online (AJOL)

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

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

    African Journals Online (AJOL)

    ACSS

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

  20. Childhood and Adolescent Anxiety and Depression: Beyond Heritability

    Science.gov (United States)

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

    2010-01-01

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

  1. A Note on the Heritability of Memory Span.

    Science.gov (United States)

    Jensen, Arthur R.; Marisi, Daniel Q.

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

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

    African Journals Online (AJOL)

    Unknown

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

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

    NARCIS (Netherlands)

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

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

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

    African Journals Online (AJOL)

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

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

    African Journals Online (AJOL)

    ONOS

    2010-05-10

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

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

    NARCIS (Netherlands)

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

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

  7. 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...

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

    African Journals Online (AJOL)

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

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

    African Journals Online (AJOL)

    edward

    2015-05-09

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

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

    African Journals Online (AJOL)

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

  11. 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

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

    African Journals Online (AJOL)

    ACSS

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

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

    African Journals Online (AJOL)

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

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

    African Journals Online (AJOL)

    SH

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

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

    NARCIS (Netherlands)

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

    2007-01-01

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

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

    African Journals Online (AJOL)

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

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

    African Journals Online (AJOL)

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

  18. Heritability of decisions and outcomes of public goods games

    Directory of Open Access Journals (Sweden)

    Kai eHiraishi

    2015-04-01

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

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

    NARCIS (Netherlands)

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

    2004-01-01

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

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

    NARCIS (Netherlands)

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

    2001-01-01

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

  1. Heritability of hypothyroidism in the Finnish Hovawart population.

    Science.gov (United States)

    Åhlgren, Johanna; Uimari, Pekka

    2016-06-07

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

  2. Marker-Based Estimation of Heritability in Immortal Populations

    Science.gov (United States)

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

    2015-01-01

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

  3. Scaled photographs of surf over the full range of breaker sizes on the north shore of Oahu and Jaws, Maui, Hawaiian Islands (NODC Accession 0001753)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Digital surf photographs were scaled using surfers as height benchmarks to estimate the size of the breakers. Historical databases for surf height in Hawaii are...

  4. 78 FR 79471 - Discretionary Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Science.gov (United States)

    2013-12-30

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

  5. 78 FR 51195 - Discretionary Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Science.gov (United States)

    2013-08-20

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

  6. 75 FR 68802 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Science.gov (United States)

    2010-11-09

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

  7. 76 FR 76740 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Science.gov (United States)

    2011-12-08

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

  8. Heritability of foot conformation and its relationship to sports performance in a Dutch Warmblood horse population.

    Science.gov (United States)

    Ducro, B J; Bovenhuis, H; Back, W

    2009-02-01

    Warmblood horse studbooks aim to breed horses with a conformation that will enable elite future performance, but reduce the risk of injuries and lameness. Negative conformational traits, such as asymmetrical or 'uneven' forefeet would possibly diminish performance. To assess the prevalence and heritability of uneven feet and its genetic relationship to other conformation traits as well as to sporting performance later in life in Warmblood riding horses. The databases of the Royal Dutch Warmblood Studbook (KWPN, n = 44,840 horses) and Royal Dutch Equestrian Sports Federation (KNHS, n = 33,459 horses in dressage and n = 30,474 horses in showjumping) were linked through the unique number of each registered horse. Therefore, heritabilities and genetic and phenotypic correlations could be estimated from the scores of the jury at studbook admission and the sports performance of that population in dressage and jumping over the period 1990-2002. The prevalence of uneven feet was 53% on average, and increased from under 4.5% during the first 3 years of recording to over 8% in the years from 2000 onwards. Heritability estimates of foot conformation traits were moderate and ranged from 0.16 for heel height to 0.27 for hoof shape. The genetic correlation between the trait of uneven feet and performance in competition was negative but weak: -0.09 with dressage and -0.12 with showjumping. Predisposition to uneven feet can be reduced by selection. Because of weak genetic correlations, the increased prevalence is not directly associated with selection for better sports performance or higher conformation grade. If the trait 'uneven feet' arises from a disproportionate relationship between height at the withers and neck length, then selection on conformation grade might result in development of uneven feet. In general, limb conformation has a moderate genetic relationship to conformation grade and foot conformation traits have a genetic relationship to sporting performance. Reducing

  9. Effect of misidentification on the estimation of breeding value and heritability in cattle.

    Science.gov (United States)

    Geldermann, H; Pieper, U; Weber, W E

    1986-12-01

    For daughter groups of 15 test bulls, controls of paternity were performed by using blood group factors and biochemical polymorphisms. Data of incorrectly assigned daughters influenced the estimation of breeding values, heritabilities and correlations for milk performance traits. Formulae are given that show the effects of variable misidentification rates on estimation of breeding values, selection intensities, heritabilities, and genetic gains. For example, for milk fat yield, the genetic gains drop at a misidentification rate of 15% between 8.7% (for h2 = .5) and 16.9% (for h2 = .2) below values attained without misidentifications. Consequently, decreasing misidentification rates in progeny of test bulls can be used to diminish the progeny size per test bull for constant genetic gain, to achieve more precise ranking of all or distinct test bulls according to their "true" breeding values and(or) to increase the number of test bulls by using the same amount of test inseminations and the same precision of ranking. Actions to reduce misidentification rates in cattle populations are discussed.

  10. The heritability of shell morphometrics in the freshwater pulmonate gastropod Physa.

    Directory of Open Access Journals (Sweden)

    Robert T Dillon

    Full Text Available The cosmopolitan freshwater pulmonate snail Physa acuta hybridizes readily with Physa carolinae in the laboratory, although their F1 progeny are sterile. The two species differ qualitatively in shell shape, the former bearing a more globose shell and the latter more fusiform. We performed a hybridization experiment, measuring a set of 14 traditional (linear and landmark-based shell morphological variables on even-aged parents and their offspring from both hybrids and purebred control lines. Parent-offspring regression yielded a strikingly high heritability estimate for score on the first relative warp axis, h2 = 0.819 ± 0.073, a result that would seem to confirm the value of geometric morphometrics as a tool for retrieving evolutionary relationships from gastropod shell form. Score on the second relative warp axis was also significantly heritable (h2 = 0.312 ± 0.123, although more moderate, as were scores on second principal components extracted from traditional measurements (correlation h2 = 0.308 ± 0.069, covariance h2 = 0.314 ± 0.050. Although score on the first relative warp axis was significantly correlated with centroid size (p < 0.001, scores on none of the three second axes were so correlated. This result suggests that second axis score might prove especially useful for estimating genetic divergence among mixed-age populations of gastropods sampled from the field.

  11. The role of breeding range, diet, mobility and body size in associations of raptor communities and land-use in a West African savannah

    NARCIS (Netherlands)

    Buij, R.; Croes, B.M.; Gort, G.; Komdeur, J.

    2013-01-01

    To provide insight into raptor declines in western Africa, we investigated associations between land-use and raptor distribution patterns in Cameroon. We examined the role of breeding distribution, species’ migratory mobility, diet, body size, and thus area requirements, on 5-km scale patterns of

  12. The role of breeding range, diet, mobility and body size in associations of raptor communities and land-use in a West African savanna

    NARCIS (Netherlands)

    Buij, Ralph; Croes, Barbara M.; Gort, Gerrit; Komdeur, Jan

    2013-01-01

    To provide insight into raptor declines in western Africa, we investigated associations between land-use and raptor distribution patterns in Cameroon. We examined the role of breeding distribution, species' migratory mobility, diet, body size, and thus area requirements, on 5-km scale patterns of

  13. Channel bed particle size distribution procedure used to evaluate watershed cumulative effects for range permit re-issuance on the Santa Fe National Forest

    Science.gov (United States)

    Bruce Sims; Jim Piatt; Lee Johnson; Carol Purchase; John Phillips

    1996-01-01

    Personnel on the Santa Fe National Forest used methodologies adapted from Bevenger and King (1995) to collect base line particle size data on streams within grazing allotments currently scheduled for permit reissuance. This information was used to determine the relative current health of the watersheds as well as being used in the development of potential alternatives...

  14. 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.

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

    African Journals Online (AJOL)

    ACSS

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

  16. 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....

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

    Science.gov (United States)

    Lett, Beth M; Kirkpatrick, Brian W

    2018-02-14

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

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

    Science.gov (United States)

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

    2014-01-01

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

  19. 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.

  20. Familial Aggregation and Heritability of Wuchereria bancrofti Infection.

    Science.gov (United States)

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

    2016-08-15

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

  1. 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.

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

    OpenAIRE

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

    2015-01-01

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

  3. Passive hip laxity in Estrela Mountain Dog--distraction index, heritability and breeding values.

    Science.gov (United States)

    Ginja, Mário M D; Silvestre, António M; Ferreira, António J A; Gonzalo-Orden, José M; Orden, Maria A; Melo-Pinto, Pedro; Llorens-Pena, Maria P; Colaço, Jorge

    2008-09-01

    Two hundred and fifteen Estrela Mountain Dogs (EMD) were examined using the PennHIP method between 2002 and 2006. Passive hip laxity (PHL) was estimated calculating the distraction index (DI). Pedigree information was obtained from the Portuguese Kennel Club. The heritability and breeding values were estimated using the linear Animal Model. The DI, using as reference the worst joint of each animal, ranged from 0.15 to 1.12 (0.55 +/- 0.19). The PHL was equal in right and left sides, and was higher in females than in males (P > 0.05 and P breeding values for PHL were stable in EMD born between 1991 and 2003, and showed an improvement in 2004 and 2005. The data confirm high PHL in breeds with high prevalence and severity of canine hip dysplasia. The high heritability indicates that the DI could be reduced in the breed if PHL were used as a selection criterion. The early favourable evolution of DI breeding values could be related with the increase of voluntary radiographic hip screening in the last years, and the subsequent introduction of hip quality as a breeding criterion.

  4. 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.

  5. Genome instability and epigenetic modification--heritable responses to environmental stress?

    Science.gov (United States)

    Boyko, Alex; Kovalchuk, Igor

    2011-06-01

    As sessile organisms, plants need to continuously adjust their responses to external stimuli to cope with changing growth conditions. Since the seed dispersal range is often rather limited, exposure of progeny to the growth conditions of parents is very probable. The plasticity of plant phenotypes cannot be simply explained by genetic changes such as point mutations, deletions, insertions and gross chromosomal rearrangements. Since many environmental stresses persist for only one or several plant generations, other mechanisms of adaptation must exist. The heritability of reversible epigenetic modifications that regulate gene expression without changing DNA sequence makes them an attractive alternative mechanism. In this review, we discuss recent advances in understanding how changes in genome stability and epigenetically mediated changes in gene expression could contribute to plant adaptation. We provide examples of environmentally induced transgenerational epigenetic effects that include the appearance of new phenotypes in successive generations of stressed plants. We also describe several cases in which exposure to stress leads to nonrandom heritable but reversible changes in stress tolerance in the progeny of stressed plants. Copyright © 2011 Elsevier Ltd. All rights reserved.

  6. Personality traits below facets: The consensual validity, longitudinal stability, heritability, and utility of personality nuances.

    Science.gov (United States)

    Mõttus, René; Kandler, Christian; Bleidorn, Wiebke; Riemann, Rainer; McCrae, Robert R

    2017-03-01

    It has been argued that facets do not represent the bottom of the personality hierarchy-even more specific personality characteristics, nuances, could be useful for describing and understanding individuals and their differences. Combining 2 samples of German twins, we assessed the consensual validity (correlations across different observers), rank-order stability, and heritability of nuances. Personality nuances were operationalized as the 240 items of the Revised NEO Personality Inventory (NEO-PI-R). Their attributes were examined by analyzing item residuals, controlling for the variance of the facet the item had been assigned to and all other facets. Most nuances demonstrated significant (p personality traits, with median estimates of rank-order stability and heritability being .77 and .52, respectively. Few nuances demonstrated robust associations with age and gender, but many showed incremental, conceptually meaningful, and replicable (across methods and/or samples) predictive validity for a range of interest domains and body mass index. We argue that these narrow personality characteristics constitute a valid level of the personality hierarchy. They may be especially useful for providing a deep and contextualized description of the individual, but also for the prediction of specific outcomes. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  7. Blood Mercury Levels of Zebra Finches Are Heritable: Implications for the Evolution of Mercury Resistance.

    Directory of Open Access Journals (Sweden)

    Kenton A Buck

    Full Text Available Mercury is a ubiquitous metal contaminant that negatively impacts reproduction of wildlife and has many other sub-lethal effects. Songbirds are sensitive bioindicators of mercury toxicity and may suffer population declines as a result of mercury pollution. Current predictions of mercury accumulation and biomagnification often overlook possible genetic variation in mercury uptake and elimination within species and the potential for evolution in affected populations. We conducted a study of dietary mercury exposure in a model songbird species, maintaining a breeding population of zebra finches (Taeniopygia guttata on standardized diets ranging from 0.0-2.4 μg/g methylmercury. We applied a quantitative genetics approach to examine patterns of variation and heritability of mercury accumulation within dietary treatments using a method of mixed effects modeling known as the 'animal model'. Significant variation in blood mercury accumulation existed within each treatment for birds exposed at the same dietary level; moreover, this variation was highly repeatable for individuals. We observed substantial genetic variation in blood mercury accumulation for birds exposed at intermediate dietary concentrations. Taken together, this is evidence that genetic variation for factors affecting blood mercury accumulation could be acted on by selection. If similar heritability for mercury accumulation exists in wild populations, selection could result in genetic differentiation for populations in contaminated locations, with possible consequences for mercury biomagnification in food webs.

  8. Genetic parameters for litter size in Black Slavonian pigs

    Energy Technology Data Exchange (ETDEWEB)

    Skorput, D.; Gorjanc, G.; Dikic, M.; Lujovic, Z.

    2014-06-01

    The objective of this study was to estimate genetic parameters for litter size of Black Slavonian pigs using the repeatability, multiple trait, and random regression models, and to consider the possibility to increase litter size in Black Slavonian pigs by selection. A total of 4,733 litter records from the first to the sixth parity from sows that farrowed between January 1998 and December 2010 were included in the analysis. Individual record consisted of the following variables: breeding organisation (eight regions), parity (1-6), service boar, and farrowing season (monthyear interaction). Estimation of all the covariance components with three different models was based on the residual maximum likelihood method. Estimate of additive genetic variance and heritability for number of piglets born alive with repeatability model was 0.23 and 0.10, respectively. Estimates of additive genetic variance with multiple trait and random regression model were in a wider range from 0.05 to 0.65 across parities, and heritabilities were estimated in the range between 0.03 and 0.26. Estimates of phenotypic and additive genetic correlations were much smoother with random regression model in comparison with multiple trait model. Due to unexpected changes of variances along trajectory obtained with multiple trait and random regression model, the best option for genetic evaluation of litter size for now could be the use of repeatability model. With increasing number of data with proper data structure alternative modelling of litter size of Black Slavonian pig using multiple trait and random regression model could be taken into consideration. (Author)

  9. Swift Foxes and Ideal Free Distribution: Relative Influence of Vegetation and Rodent Prey Base on Swift Fox Survival, Density, and Home Range Size

    Science.gov (United States)

    2012-01-01

    extensive shortgrass prairie regions from central Canada into New Mexico and Texas and from the Rocky Mountains east into Iowa [1, 2]. Today, they are...woodland ( Pinus edulis and Juniperus monosperma). Elevation varied between 1,310 and 1,740m, average temperatures ranged from 1◦C in January to 23◦C in July

  10. The power of regional heritability analysis for rare and common variant detection: simulations and application to eye biometrical traits

    Directory of Open Access Journals (Sweden)

    Yoshinobu eUemoto

    2013-11-01

    Full Text Available Genome-wide association studies (GWAS have provided valuable insights into the genetic basis of complex traits. However, they have explained relatively little trait heritability. Recently, we proposed a new analytical approach called regional heritability mapping (RHM that captures more of the missing genetic variation. This method is applicable both to related and unrelated populations. Here, we demonstrate the power of RHM in comparison with single-SNP GWAS and gene-based association approaches under a wide range of scenarios with variable numbers of quantitative trait loci (QTLs with common and rare causal variants in a narrow genomic region. Simulations based on real genotype data were performed to assess power to capture QTL variance, and we demonstrate that RHM has greater power to detect rare variants and/or multiple alleles in a region than other approaches. In addition, we show that RHM can capture more accurately the QTL variance, when it is caused by multiple independent effects and/or rare variants. We applied RHM to analyze three biometrical eye traits for which single-SNP GWAS have been published or performed to evaluate the effectiveness of this method in real data analysis and detected some additional loci which were not detected by other GWAS methods. RHM has the potential to explain some of missing heritability by capturing variance caused by QTL with low MAF and multiple independent QTLs in a region, not captured by other GWAS methods.

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

    Science.gov (United States)

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

    2015-01-01

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

  12. Familial aggregation and heritability of Loa loa microfilaremia.

    Science.gov (United States)

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

    2017-10-10

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

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

    Directory of Open Access Journals (Sweden)

    Lisa J Martin

    2011-09-01

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

  14. 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

    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. 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. 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 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. 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.

  15. 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

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

    DEFF Research Database (Denmark)

    Li, Shuxia; Duan, Hongmei; Pang, Zengchang

    2013-01-01

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

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

    Directory of Open Access Journals (Sweden)

    B BIÇER

    2008-07-01

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

  18. Lessons on the pathogenesis of aneurysm from heritable conditions

    Science.gov (United States)

    Lindsay, Mark E.; Dietz, Harry C.

    2013-01-01

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

  19. The SCUBA-2 Ambitious Sky Survey: a catalogue of beam-sized sources in the Galactic longitude range 120°-140°

    Science.gov (United States)

    Nettke, Will; Scott, Douglas; Gibb, Andy G.; Thompson, Mark; Chrysostomou, Antonio; Evans, A.; Hill, Tracey; Jenness, Tim; Joncas, Gilles; Moore, Toby; Serjeant, Stephen; Urquhart, James; Vaccari, Mattia; Weferling, Bernd; White, Glenn; Zhu, Ming

    2017-06-01

    The SCUBA-2 Ambitious Sky Survey (SASSy) is composed of shallow 850-μm imaging using the Submillimetre Common-User Bolometer Array 2 (SCUBA-2) on the James Clerk Maxwell Telescope. Here we describe the extraction of a catalogue of beam-sized sources from a roughly 120 deg2 region of the Galactic plane mapped uniformly (to an rms level of about 40 mJy), covering longitude 120° extraction procedure through estimates of the false discovery rate, as well as by adding artificial sources to the real images. The primary catalogue contains a total of 189 sources at 850 μm, down to an S/N threshold of approximately 4.6. Additionally, we list 136 sources detected down to S/N = 4.3, but recognize that as we go lower in S/N, the reliability of the catalogue rapidly diminishes. We perform follow-up observations of some of our lower significance sources through small targeted SCUBA-2 images and list 265 sources detected in these maps down to S/N = 5. This illustrates the real power of SASSy: inspecting the shallow maps for regions of 850-μm emission and then using deeper targeted images to efficiently find fainter sources. We also perform a comparison of the SASSy sources with the Planck Catalogue of Compact Sources and the IRAS Point Source Catalogue, to determine which sources discovered in this field might be new, and hence potentially cold regions at an early stage of star formation.

  20. Comparison of Aerodynamic Particle Size Distribution Between a Next Generation Impactor and a Cascade Impactor at a Range of Flow Rates.

    Science.gov (United States)

    Yoshida, Hiroyuki; Kuwana, Akemi; Shibata, Hiroko; Izutsu, Ken-Ichi; Goda, Yukihiro

    2017-04-01

    Wide variation in respiratory flow rates between patients emphasizes the importance of evaluating the aerodynamic particle size distribution (APSD) of dry powder inhaler (DPI) using a multi-stage impactor at different flow rates. US Pharmacopeia recently listed modified configurations of the Andersen cascade impactor (ACI) and new sets of cut-off diameter specifications for the operation at flow rates of 60 and 90 L/min. The purpose of this study was to clarify the effect of these changes on the APSD of DPI products at varied flow rates. We obtained APSD profiles of four DPIs and device combinations, Relenza®-Diskhaler® (GlaxoSmithKline Co.), Seebri®-Breezhaler® (Novartis Pharma Co.), Pulmicort®-Turbuhaler® (Astrazeneca Co.), and Spiriva®-Handihaler® (Nippon Boehringer Ingelheim Co.) using Next Generation Impactors (NGIs) and ACIs at flow rates from 28.3 to 90 L/min to evaluate the difference in the use of previous and new sets of cut-off diameter specifications. Processing the data using the new specifications for ACI apparently reduced large differences in APSD obtained by NGI and ACI with the previous specifications at low and high flow rates in all the DPIs. Selecting the appropriate configuration of ACI corresponding to the flow rate provided comparable APSD profiles of Pulmicort®-Turbuhaler® to those using NGIs at varied flow rates. The results confirmed the relevance of the current US Pharmacopeia specifications for ACI analysis in obtaining APSD profiles of DPI products at wide flow rates.

  1. Heritability of Thoracic Spine Curvature and Genetic Correlations With Other Spine Traits: The Framingham Study.

    Science.gov (United States)

    Yau, Michelle S; Demissie, Serkalem; Zhou, Yanhua; Anderson, Dennis E; Lorbergs, Amanda L; Kiel, Douglas P; Allaire, Brett T; Yang, Laiji; Cupples, L Adrienne; Travison, Thomas G; Bouxsein, Mary L; Karasik, David; Samelson, Elizabeth J

    2016-12-01

    Hyperkyphosis is a common spinal disorder in older adults, characterized by excessive forward curvature of the thoracic spine and adverse health outcomes. The etiology of hyperkyphosis has not been firmly established, but may be related to changes that occur with aging in the vertebrae, discs, joints, and muscles, which function as a unit to support the spine. Determining the contribution of genetics to thoracic spine curvature and the degree of genetic sharing among co-occurring measures of spine health may provide insight into the etiology of hyperkyphosis. The purpose of our study was to estimate heritability of thoracic spine curvature using T4 -T12 kyphosis (Cobb) angle and genetic correlations between thoracic spine curvature and vertebral fracture, intervertebral disc height narrowing, facet joint osteoarthritis (OA), lumbar spine volumetric bone mineral density (vBMD), and paraspinal muscle area and density, which were all assessed from computed tomography (CT) images. Participants included 2063 women and men in the second and third generation offspring of the original cohort of the Framingham Study. Heritability of kyphosis angle, adjusted for age, sex, and weight, was 54% (95% confidence interval [CI], 43% to 64%). We found moderate genetic correlations between kyphosis angle and paraspinal muscle area (ρˆG , -0.46; 95% CI, -0.67 to -0.26), vertebral fracture (ρˆG , 0.39; 95% CI, 0.18 to 0.61), vBMD (ρˆG , -0.23; 95% CI, -0.41 to -0.04), and paraspinal muscle density (ρˆG , -0.22; 95% CI, -0.48 to 0.03). Genetic correlations between kyphosis angle and disc height narrowing (ρˆG , 0.17; 95% CI, -0.05 to 0.38) and facet joint OA (ρˆG , 0.05; 95% CI, -0.15 to 0.24) were low. Thoracic spine curvature may be heritable and share genetic factors with other age-related spine traits including trunk muscle size, vertebral fracture, and bone mineral density. © 2016 American Society for Bone and Mineral Research. © 2016 American Society for Bone and

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

    DEFF Research Database (Denmark)

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

    2011-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Anton A Nizhnikov

    2016-12-01

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

  4. Heritability of dollar spot resistance in creeping bentgrass.

    Science.gov (United States)

    Bonos, Stacy A

    2006-08-01

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

  5. Optimization and limits of electrostatic sorting by bi-polar charge of mineral mixtures in the fine grain size range. Final report. Optimierung und Grenzen der elektrostatischen Sortierung durch bipolare Aufladung von Mineralgemischen im Feinkornbereich. Schlussbericht

    Energy Technology Data Exchange (ETDEWEB)

    1988-01-01

    In this work, the charge distribution in mineral mixtures and the electrostatic sorting according to tribo-charging is examined on R-10 fractions in the particle size range of 50-200 {mu}m. The purpose of the investigations was combinations of pairs from quartz, calcite, heavy spar, river spar and the pairing anthracite/quartz. Separation experiments were also carried out for the quartz/calcite pair in the particle size range of 20-50 {mu}m. After a survey of the literature and the electrical processes in the contact of two materials, some theoretical considerations procede the investigations, which are concerned with the maximum surface charge density on particles, the electrostatic agglomeration and the calculation of particle track curves in an homogeneous electrical field. It is shown that in principle, electrostatic agglomerates can always be separated in an electrical field. (orig.).

  6. The epigenetic footprint of poleward range-expanding plants in apomictic dandelions

    NARCIS (Netherlands)

    Preite, V.; Snoek, L.B.; Oplaat, C.; Biere, A.; Van der Putten, W. H; Verhoeven, K.J.F.

    2015-01-01

    Epigenetic modifications, such as DNA methylation variation, can generate heritable phenotypic variation independent of the underlying genetic code. However, epigenetic variation in natural plant populations is poorly documented and little understood. Here, we test if northward range expansion of

  7. 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

  8. Modification effects of physical activity and protein intake on heritability of body size and composition

    DEFF Research Database (Denmark)

    Silventoinen, Karri; Hasselbalch, Ann Louise; Lallukka, Tea

    2009-01-01

    with the Mx statistical package (Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, VA). RESULTS: High physical activity was associated with lower mean values, and a high proportion of protein in the diet was associated with higher mean BMI, waist......BACKGROUND: The development of obesity is still a poorly understood process that is dependent on both genetic and environmental factors. OBJECTIVE: The objective was to examine how physical activity and the proportion of energy as protein in the diet modify the genetic variation of body mass index...... (BMI), waist circumference, and percentage body fat. DESIGN: Twins from Denmark (756 complete pairs) and Finland (278 complete pairs) aged 18-67 and 21-24 y, respectively, participated. The proportion of energy as protein in the diet was estimated by using food-frequency questionnaires...

  9. 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.

  10. Longitudinal Study of Language and Speech of Twins at 4 and 6 Years: Twinning Effects Decrease, Zygosity Effects Disappear, and Heritability Increases.

    Science.gov (United States)

    Rice, Mabel L; Zubrick, Stephen R; Taylor, Catherine L; Hoffman, Lesa; Gayán, Javier

    2017-12-18

    This study investigates the heritability of language, speech, and nonverbal cognitive development of twins at 4 and 6 years of age. Possible confounding effects of twinning and zygosity, evident at 2 years, were investigated among other possible predictors of outcomes. The population-based twin sample included 627 twin pairs and 1 twin without a co-twin (197 monozygotic and 431 dizygotic), 610 boys and 645 girls, 1,255 children in total. Nine phenotypes from the same comprehensive direct behavioral assessment protocol were investigated at 4 and 6 years of age. Twinning effects were estimated for each phenotype at each age using general linear mixed models using maximum likelihood. Twinning effects decreased from 4 to 6 years; zygosity effects disappeared by 6 years. Heritability increased from 4 to 6 years across all 9 phenotypes, and the heritability estimates were higher than reported previously, in the range of .44-.92 at 6 years. The highest estimate, .92, was for the clinical grammar marker. Across multiple dimensions of speech, language, and nonverbal cognition, heritability estimates are robust. A finiteness marker of grammar shows the highest inherited influences in this early period of children's language acquisition.

  11. 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

  12. 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...

  13. 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

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

    African Journals Online (AJOL)

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

  15. 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

  16. 77 FR 22791 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Science.gov (United States)

    2012-04-17

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

  17. 75 FR 17929 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Science.gov (United States)

    2010-04-08

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

  18. 77 FR 35698 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children

    Science.gov (United States)

    2012-06-14

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

  19. 76 FR 17140 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Science.gov (United States)

    2011-03-28

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

  20. 75 FR 46947 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Science.gov (United States)

    2010-08-04

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

  1. 78 FR 16514 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Science.gov (United States)

    2013-03-15

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

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

    Science.gov (United States)

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

    2011-02-01

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

  3. 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...

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

    Directory of Open Access Journals (Sweden)

    Seema Kapil Lahoti

    2013-01-01

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

  5. 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

    2017-05-01

    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. Copyright © 2017 Elsevier B.V. All rights reserved.

  6. Heritability and Relationship among Durum Wheat Quality Traits Using a Recombinant Inbred Lines Population

    Directory of Open Access Journals (Sweden)

    M. Khazaei

    2013-10-01

    Full Text Available Traits related to seed quality have an important role in production of durum wheat. To estimate the heritability of protein content, semolina content, Zeleny number, seed hardness, SDS, dry and fresh gluten content, gluten index, and also to investigate the relationship of these traits in durum wheat, a recombinant inbred lines (RILs population including 94 recombinant inbred lines (F10, two parents (Ac. Navigator and G9580B-FE1C and four controls (Diper, Preion and PI10235 varieties and a local variety “Ajr” were evaluated. This experiment was carried out in the Research Farm of Shahrekord University, Shahrekord, Iran, using a triple lattice design.. Results showed that frequency distribution for gluten index was bimodal and for the rest of the traits was normal. This indicated the two-genes control and quantitative inheritance of these traits in the population,respectively. Transgressive segregation was observed for all the traits. The calculated heritability for protein content, seed hardness, SDS and semolina content was in the low range of 11.4-24.7%. For fresh and dry gluten and Zeleny number, it was 45, 36.2 and 37.1%, respectively. For gluten index, it was high (76.6%. The genetic correlation coefficient between protein content and Zeleny number was positive and high (r= 0.98, which indicates the suitability of this trait as a criterion for protein content. The results of path analysis for semolina, as the main feature in pasta production, based on genetic correlation coefficients, showed that the highest negative direct effect was related to Zeleny number the highest positive effect was related to protein content, which indicated the importance of these traits in explaining the semolina yield.

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

    Science.gov (United States)

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

    2005-07-01

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

  8. 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.

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

    Science.gov (United States)

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

    2013-09-24

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

  10. Small RNAs and heritable epigenetic variation in plants.

    Science.gov (United States)

    Bond, Donna M; Baulcombe, David C

    2014-02-01

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

  11. Heritability of syringomyelia in Cavalier King Charles spaniels.

    Science.gov (United States)

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

    2010-03-01

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

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

    DEFF Research Database (Denmark)

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

    2014-01-01

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

  13. Range size patterns in European freshwater trematodes

    DEFF Research Database (Denmark)

    Thieltges, David; Hof, Christian; Borregaard, Michael Krabbe

    2011-01-01

    to the north, with similar values for allogenic and autogenic trematodes. Finally, we observed an increasing proportion of autogenic species toward the north of Europe. Main conclusions The richness of definitive hosts appears to be the driver of trematode diversity at a continental scale. The latitudinal...... biogeographical regions in Europe from the Limnofauna Europaea and used multiple regression analyses to test for correlations between the diversity of definitive (vertebrates) or first intermediate (gastropods) hosts and that of trematodes, and for latitudinal gradients in trematode diversity. In particular, we...... investigated patterns in beta diversity among latitudinal bands and between trematode species that parasitize host groups with low (autogenic) and high (allogenic) dispersal capacity.We also tested for a latitudinal gradient in the proportional representation of these two trematode groups within regional...

  14. 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.

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

    Science.gov (United States)

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

    2015-01-01

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

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

    Science.gov (United States)

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

    2014-03-01

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

  17. Study of the chemical interaction between the beryllium powders of different particles size and the air in the temperature range 500-1000degC form the viewpoint of ITER safety

    Energy Technology Data Exchange (ETDEWEB)

    Davydov, D.A. [State Scientific Center of Russian Federation, Moscow (Russian Federation); Konovalov, Y.V.; Gorokhov, V.A.; Levin, V.B.; Chekhlatov, G.M.; Khomutov, A.M.

    1998-01-01

    Under an effect of some factors characteristic for the ITER- operating condition a dense beryllium facing plasma can transit into various forms, changing its structural states. As a result of the bombardment of beryllium plasma facing components by ion fluxes, the production of a dust including the particles from a few micrometers to a few millimeters in size is possible. The specific features in the behaviour of various beryllium forms under emergency conditions are of an essential interest from the viewpoint of ITER safety. Some grades of powders of different average particles size (14-31 micron) have been produced in a given study, and their chemical interaction at high temperatures with air (500-1100degC), test duration effects simulating the emergency situation at ITER in the first approximation have been studied. The temperature dependence of beryllium powders (different particles size after disc abrased) interaction with air in the temperature range 500-1000degC at the exposure of 5 hours long for each temperature and kinetic dependence of interaction of these powders with air at 800degC for the exposure from half an hour to 7 hours long were studied. An analysis of granulometric weight fraction in the metallic and oxidized beryllium powders with different particles size has been done by the photosedimentational technique with the instrument `Analysette-20`. Construction of a mathematical model for the chemical interaction of beryllium powders with air at high temperatures have been carried out. (author)

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

    Science.gov (United States)

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

    2013-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Lea K Davis

    2013-10-01

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

  20. Heritability of somatotype components from early adolescence into young adulthood: a multivariate analysis on a longitudinal twin study.

    Science.gov (United States)

    Peeters, M W; Thomis, M A; Claessens, A L; Loos, R J F; Maes, H H M; Lysens, R; Vanden Eynde, B; Vlietinck, R; Beunen, G

    2003-01-01

    Several studies with different designs have attempted to estimate the heritability of somatotype components. However they often ignore the covariation between the three components as well as possible sex and age effects. Shared environmental factors are not always controlled for. This study explores the pattern of genetic and environmental determination of the variation in Heath-Carter somatotype components from early adolescence into young adulthood. Data from the Leuven Longitudinal Twin Study, a longitudinal sample of Belgian same-aged twins followed from 10 to 18 years (n = 105 pairs, equally divided over five zygosity groups), is entered into a multivariate path analysis. Thus the covariation between the somatotype components is taken into account, gender heterogeneity can be tested, common environmental influences can be distinguished from genetic effects and age effects are controlled for. Heritability estimates from 10 to 18 years range from 0.21 to 0.88, 0.46 to 0.76 and 0.16 to 0.73 for endomorphy, mesomorphy and ectomorphy in boys. In girls, heritability estimates range from 0.76 to 0.89, 0.36 to 0.57 and 0.57 to 0.76 for the respective somatotype components. Sex differences are significant from 14 years onwards. More than half of the variance in all somatotype components for both sexes at all time points is explained by factors the three components have in common. The finding of substantial genetic influence on the variability of somatotype components is further supported. The need to consider somatotype as a whole is stressed as well as the need for sex- and perhaps age-specific analyses. Further multivariate analyses are needed to confirm the present findings.

  1. Accounting for female space sharing in St. Kilda Soay sheep (Ovis aries) results in little change in heritability estimates.

    Science.gov (United States)

    Regan, C E; Pilkington, J G; Bérénos, C; Pemberton, J M; Smiseth, P T; Wilson, A J

    2017-01-01

    When estimating heritability in free-living populations, it is common practice to account for common environment effects, because of their potential to generate phenotypic covariance among relatives thereby biasing heritability estimates. In quantitative genetic studies of natural populations, however, philopatry, which results in relatives being clustered in space, is rarely accounted for. The two studies that have been carried out so far suggest absolute declines in heritability estimates of up to 43% when accounting for space sharing by relatives. However, due to methodological limitations these estimates may not be representative. We used data from the St. Kilda Soay sheep population to estimate heritabilities with and without accounting for space sharing for five traits for which there is evidence for additive genetic variance (birthweight, birth date, lamb August weight, and female post-mortem jaw and metacarpal length). We accounted for space sharing by related females by separately incorporating spatial autocorrelation, and a home range similarity matrix. Although these terms accounted for up to 18% of the variance in these traits, heritability estimates were only reduced by up to 7%. Our results suggest that the bias caused by not accounting for space sharing may be lower than previously thought. This suggests that philopatry does not inevitably lead to a large bias if space sharing by relatives is not accounted for. We hope our work stimulates researchers to model shared space when relatives in their study population share space, as doing so will enable us to better understand when bias may be of particular concern. © 2016 European Society For Evolutionary Biology. Journal of Evolutionary Biology © 2016 European Society For Evolutionary Biology.

  2. On the reliability of a simple method for scoring phenotypes to estimate heritability: A case study with pupal color in Heliconius erato phyllis , Fabricius 1775 (Lepidoptera, Nymphalidae

    Directory of Open Access Journals (Sweden)

    Adriano Andrejew Ferreira

    2009-01-01

    Full Text Available In this paper, two methods for assessing the degree of melanization of pupal exuviae from the butterfly Heliconius erato phyllis , Fabricius 1775 (Lepidoptera, Nymphalidae, Heliconiini are compared. In the first method, which was qualitative, the exuviae were classified by scoring the degree of melanization, whereas in the second method, which was quantitative, the exuviae were classified by optical density followed by analysis with appropriate software. The heritability (h 2 of the degree of melanization was estimated by regression and analysis of variance. The estimates of h 2 were similar with both methods, indicating that the qualitative method could be particularly suitable for field work. The low estimates obtained for heritability may have resulted from the small sample size ( n = 7-18 broods, including the parents or from the allocation-priority hypothesis in which pupal color would be a lower priority trait compared to morphological traits and adequate larval development.

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

    Science.gov (United States)

    Dor, Roi; Lotem, Arnon

    2009-03-01

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

  4. 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

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

    Science.gov (United States)

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

    2013-10-01

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

  6. 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

  7. 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.

  8. Grammar Clinical Marker Yields Substantial Heritability for Language Impairments in 16-Year-Old Twins.

    Science.gov (United States)

    Dale, Philip S; Rice, Mabel L; Rimfeld, Kaili; Hayiou-Thomas, Marianna E

    2018-01-22

    There is a need for well-defined language phenotypes suitable for adolescents in twin studies and other large-scale research projects. Rice, Hoffman, and Wexler (2009) have developed a grammatical judgment measure as a clinical marker of language impairment, which has an extended developmental range to adolescence. We conducted the first twin analysis, along with associated phenotypic analyses of validity, of an abridged, 20-item version of this grammatical judgment measure (GJ-20), based on telephone administration using prerecorded stimuli to 405 pairs of 16-year-olds (148 monozygotic and 257 dizygotic) drawn from the Twins Early Development Study (Haworth, Davis, & Plomin, 2012). The distribution of scores is markedly skewed negatively, as expected for a potential clinical marker. Low performance on GJ-20 is associated with lower maternal education, reported learning disability (age 7 years), and low scores on language tests administered via the Twins Early Development Study (age 16 years) as well as General Certificate of Secondary Education English and Math examination performance (age 16 years). Liability threshold estimates for the genetic influence on low performance on GJ-20 are substantial, ranging from 36% with a lowest 10% criterion to 74% for a lowest 5% criterion. The heritability of GJ-20 scores, especially at more extreme cutoffs, along with the score distribution and association with other indicators of language impairments, provides additional evidence for the potential value of this measure as a clinical marker of specific language impairment.

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

    Science.gov (United States)

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

    2010-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Noémie Chervet

    2011-01-01

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

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

    Science.gov (United States)

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

    2000-01-01

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

  12. Social Networks and the Heritability of Migratory Behavior.

    Science.gov (United States)

    Napierala, Jeffrey S; Gage, Timothy

    2016-01-01

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

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

    Science.gov (United States)

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

    2010-10-01

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

  14. 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.

  15. 75 FR 21645 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children

    Science.gov (United States)

    2010-04-26

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

  16. 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

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

    National Research Council Canada - National Science Library

    Sbarra, Fiorella; Mantovani, Roberto; Bittante, Giovanni

    2010-01-01

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

  18. 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

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

    Science.gov (United States)

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

    2015-03-01

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

  20. Imaging Phenotype vs. Genotype in Non-Hypertrophic Heritable Cardiomyopathies: Dilated Cardiomyopathy and Arrhythmogenic Right Ventricular Cardiomyopathy

    Science.gov (United States)

    Raman, Subha V.; Basso, Cristina; Tandri, Harikrishna; Taylor, Matthew R. G.

    2011-01-01

    Advances in cardiovascular imaging increasingly afford unique insights into heritable myocardial disease. As clinical presentation of genetic cardiomyopathies may range from nonspecific symptoms to sudden cardiac death, accurate diagnosis has implications for individual patients as well as related family members. The initial consideration of genetic cardiomyopathy may occur in the imaging laboratory, where one must recognize the patient with arrhythmogenic right ventricular cardiomyopathy (ARVC) among the many with ventricular arrhythmia referred to define myocardial substrate. Accurate diagnosis of the patient presenting with dyspnea and palpitations whose first-degree relatives have lamin A/C cardiomyopathy may warrant genetic testing1, 2 plus imaging of diastolic function and myocardial fibrosis3. As advances in cardiac imaging afford detection of subclinical structural and functional changes, the imaging specialist must be attuned to signatures of specific genetic disorders. With increased availability of both advanced imaging as well as genotyping techniques, this review seeks to provide cardiovascular imaging specialists and clinicians with the contemporary information needed for more precise diagnosis and treatment of heritable myocardial disease. A companion paper in this series covers imaging phenotype and genotype considerations in hypertrophic cardiomyopathy (HCM). This review details clinical features, imaging phenotype and current genetic understanding for two of the most common non-HCM conditions that prompt myocardial imaging - dilated cardiomyopathy (DCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC). While all modalities are considered herein, considerable focus is given to CMR with its unique capabilities for myocardial tissue characterization. PMID:21081743

  1. 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.

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

    Science.gov (United States)

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

    2015-01-07

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

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

    Science.gov (United States)

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

    2017-06-01

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

  4. Heritability of thromboxane A2 and prostaglandin E2 biosynthetic machinery in a Spanish population.

    Science.gov (United States)

    Vila, Luis; Martinez-Perez, Angel; Camacho, Mercedes; Buil, Alfonso; Alcolea, Sonia; Pujol-Moix, Nuria; Soler, Marta; Antón, Rosa; Souto, Juan-Carlos; Fontcuberta, Jordi; Soria, José-Manuel

    2010-01-01

    Prostanoids play a critical role in clinical areas such as inflammation, thrombosis, immune response, and cancer. Although some studies suggest that there are genes that determine variability of some prostanoid-related phenotypes, the genetic influence on these traits has not been evaluated. The relative contributions of genetic and environmental influences to the prostanoid biosynthetic pathway-related phenotypes, cyclooxygenase isoenzymes, microsomal-PGE-synthase-1 and TxA-synthase expression, and thromboxane-A(2) and prostaglandin-E(2) production by stimulated whole blood, were assessed in a sample of 308 individuals in 15 extended families. The effects of measured covariates (such as sex, age, and smoking), genes, and environmental variables shared by members of a household were quantified. Heritabilities ranging from 0.406 to 0.634 for enzyme expression and from 0.283 to 0. 751 for prostanoid production were found. These results demonstrate clearly the importance of genetic factors in determining variation in phenotypes that are components of the prostanoid biosynthetic pathways. The presence of such strong genetic effects suggest that it will be possible to localize previously unknown genes that influence quantitative variation in these phenotypes, some of which affect multiple aspects of cell biology, with important clinical implications.

  5. Ethyl methane sulphonate induced genetic variability and heritability in macrosperma and microsperma lentils.

    Science.gov (United States)

    Rana, Aman; Solanki, I S

    2015-09-01

    Dry and healthy seeds of two lentil cultivars, LH90-54 (macrosperma) and LH89-48 (microsperma) were treated with three doses of ethyl methane sulphonate (0.1, 0.2 and 0.4 %). In both the cultivars, all the M, plants with sufficient seed from each treatment and control were taken to raise independent M2 plant progenies. Wider range of means in both positive and negative directions along with overall positive shift in mean for all the polygenic traits, except pod-initiation height and 100-seed weight, were observed in different treatments in M2 generation. In both the cultivars, medium dose induced highest amount of variation. The estimates of variance, GCV and PCV for different polygenic traits increased significantly over control values in all the treatments of both the cultivars. Higher estimates of heritability and genetic advance in M2 population indicated tremendous scope for the improvement of seed yield and its component traits through selection in the mutagenized material.

  6. Heritability of Batrachochytrium dendrobatidis burden and its genetic correlation with development time in a population of Common toad (Bufo spinosus).

    Science.gov (United States)

    Palomar, Gemma; Bosch, Jaime; Cano, José Manuel

    2016-10-01

    Despite the important threat that emerging pathogens pose for the conservation of biodiversity as well as human health, very little is known about the adaptive potential of host species to withstand infections. We studied the quantitative genetic architecture responsible for the burden of the fungal pathogen Batrachochytrium dendrobatidis in a population of common toads in conjunction with other life-history traits (i.e., body size and development rate) that may be affected by common selective pressures. We found a significant heritable component that is associated with fungal burden, which may allow for local adaptation to this pathogen to proceed. In addition, the high genetic correlation found between fungal burden and development time suggests that both traits have to be taken into account in order to assess the adaptive response of host populations to this emerging pathogen. © 2016 The Author(s). Evolution © 2016 The Society for the Study of Evolution.

  7. Photogrammetric measurement of 3D freeform millimetre-sized objects with micro features: an experimental validation of the close-range camera calibration model for narrow angles of view

    Science.gov (United States)

    Percoco, Gianluca; Sánchez Salmerón, Antonio J.

    2015-09-01

    The measurement of millimetre and micro-scale features is performed by high-cost systems based on technologies with narrow working ranges to accurately control the position of the sensors. Photogrammetry would lower the costs of 3D inspection of micro-features and would be applicable to the inspection of non-removable micro parts of large objects too. Unfortunately, the behaviour of photogrammetry is not known when photogrammetry is applied to micro-features. In this paper, the authors address these issues towards the application of digital close-range photogrammetry (DCRP) to the micro-scale, taking into account that in literature there are research papers stating that an angle of view (AOV) around 10° is the lower limit to the application of the traditional pinhole close-range calibration model (CRCM), which is the basis of DCRP. At first a general calibration procedure is introduced, with the aid of an open-source software library, to calibrate narrow AOV cameras with the CRCM. Subsequently the procedure is validated using a reflex camera with a 60 mm macro lens, equipped with extension tubes (20 and 32 mm) achieving magnification of up to 2 times approximately, to verify literature findings with experimental photogrammetric 3D measurements of millimetre-sized objects with micro-features. The limitation experienced by the laser printing technology, used to produce the bi-dimensional pattern on common paper, has been overcome using an accurate pattern manufactured with a photolithographic process. The results of the experimental activity prove that the CRCM is valid for AOVs down to 3.4° and that DCRP results are comparable with the results of existing and more expensive commercial techniques.

  8. On Range of Skill

    DEFF Research Database (Denmark)

    Hansen, Thomas Dueholm; Miltersen, Peter Bro; Sørensen, Troels Bjerre

    2008-01-01

    size (and doubly exponential in its depth). We also provide techniques that yield concrete bounds for unbalanced game trees and apply these to estimate the Range of Skill of Tic-Tac-Toe and Heads-Up Limit Texas Hold'em Poker. In particular, we show that the Range of Skill of Tic-Tac-Toe is more than...

  9. Short communication: Heritability estimates for susceptibility to Mycobacterium avium subspecies paratuberculosis infection defined by ELISA and fecal culture test results in Jersey cattle.

    Science.gov (United States)

    Zare, Y; Shook, G E; Collins, M T; Kirkpatrick, B W

    2014-07-01

    Paratuberculosis (Johne's disease), an enteric disorder in ruminants caused by Mycobacterium avium ssp. paratuberculosis, causes economic losses in excess of $200 million annually to the US dairy industry. Costly diagnostic testing, cumbersome control programs, incurability, and ineffective vaccination all make M. avium ssp. paratuberculosis susceptibility a good candidate for genetic studies and genetic selection a potentially useful adjunct to management-based control programs. No report has been published for heritability of susceptibility to M. avium ssp. paratuberculosis infection in Jersey cattle. The objective of this study was to estimate variance components and heritability for susceptibility to M. avium ssp. paratuberculosis infection in US Jersey cattle. Data consisted of complete serum ELISA and partial fecal culture results on a total of 2,861 Jersey cows from 23 commercial herds throughout the United States after editing. Four M. avium ssp. paratuberculosis susceptibility phenotypes were defined using (1) ELISA sample-to-positive ratios as a continuous trait, (2) ELISA results as a binary trait (positive=1, negative=0), (3) ELISA results as an ordered categorical trait, and (4) a combined test in which ELISA and fecal culture results were both taken into account in a binary analysis. Three statistical models, including linear, binary threshold, and ordered threshold sire models, were used to analyze the data. All analyses were executed using the restricted maximum likelihood method in ASReml 3 software. The heritability estimates were low to moderate and ranged from 0.08 (±0.03) to 0.27 (±0.11) based on different trait definitions. The nonzero heritability indicates that susceptibility to M. avium ssp. paratuberculosis infection in Jersey cattle is influenced by genetic factors. Therefore, selection of the least susceptible animals could decrease genetic predisposition to M. avium ssp. paratuberculosis infection in Jersey populations in future

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

    OpenAIRE

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

    2013-01-01

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

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

    Science.gov (United States)

    Mattila, A L K; Hanski, I

    2014-08-01

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

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

    Science.gov (United States)

    Schielzeth, Holger; Bolund, Elisabeth; Forstmeier, Wolfgang

    2010-04-01

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

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

    Science.gov (United States)

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

    2007-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Roman R.M.

    2000-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Youngdoe Kim

    2015-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Mario Pinedo Panduro

    2012-03-01

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

  17. 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.

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

    Science.gov (United States)

    Schielzeth, Holger; Bolund, Elisabeth; Forstmeier, Wolfgang

    2010-01-01

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

  19. Home range and travels

    Science.gov (United States)

    Stickel, L.F.; King, John A.

    1968-01-01

    The concept of home range was expressed by Seton (1909) in the term 'home region,' which Burr (1940, 1943) clarified with a definition of home range and exemplified in a definitive study of Peromyscus in the field. Burt pointed out the ever-changing characteristics of home-range area and the consequent absence of boundaries in the usual sense--a finding verified by investigators thereafter. In the studies summarized in this paper, sizes of home ranges of Peromyscus varied within two magnitudes, approximately from 0.1 acre to ten acres, in 34 studies conducted in a variety of habitats from the seaside dunes of Florida to the Alaskan forests. Variation in sizes of home ranges was correlated with both environmental and physiological factors; with habitat it was conspicuous, both in the same and different regions. Food supply also was related to size of home range, both seasonally and in relation to habitat. Home ranges generally were smallest in winter and largest in spring, at the onset of the breeding season. Activity and size also were affected by changes in weather. Activity was least when temperatures were low and nights were bright. Effects of rainfall were variable. Sizes varied according to sex and age; young mice remained in the parents' range until they approached maturity, when they began to travel more widely. Adult males commonly had larger home ranges than females, although there were a number of exceptions. An inverse relationship between population density and size of home range was shown in several studies and probably is the usual relationship. A basic need for activity and exploration also appeared to influence size of home range. Behavior within the home range was discussed in terms of travel patterns, travels in relation to home sites and refuges, territory, and stability of size of home range. Travels within the home range consisted of repeated use of well-worn trails to sites of food, shelter, and refuge, plus more random exploratory travels

  20. GENESIS: a French national resource to study the missing heritability of breast cancer.

    Science.gov (United States)

    Sinilnikova, Olga M; Dondon, Marie-Gabrielle; Eon-Marchais, Séverine; Damiola, Francesca; Barjhoux, Laure; Marcou, Morgane; Verny-Pierre, Carole; Sornin, Valérie; Toulemonde, Lucie; Beauvallet, Juana; Le Gal, Dorothée; Mebirouk, Noura; Belotti, Muriel; Caron, Olivier; Gauthier-Villars, Marion; Coupier, Isabelle; Buecher, Bruno; Lortholary, Alain; Dugast, Catherine; Gesta, Paul; Fricker, Jean-Pierre; Noguès, Catherine; Faivre, Laurence; Luporsi, Elisabeth; Berthet, Pascaline; Delnatte, Capucine; Bonadona, Valérie; Maugard, Christine M; Pujol, Pascal; Lasset, Christine; Longy, Michel; Bignon, Yves-Jean; Adenis, Claude; Venat-Bouvet, Laurence; Demange, Liliane; Dreyfus, Hélène; Frenay, Marc; Gladieff, Laurence; Mortemousque, Isabelle; Audebert-Bellanger, Séverine; Soubrier, Florent; Giraud, Sophie; Lejeune-Dumoulin, Sophie; Chevrier, Annie; Limacher, Jean-Marc; Chiesa, Jean; Fajac, Anne; Floquet, Anne; Eisinger, François; Tinat, Julie; Colas, Chrystelle; Fert-Ferrer, Sandra; Penet, Clotilde; Frebourg, Thierry; Collonge-Rame, Marie-Agnès; Barouk-Simonet, Emmanuelle; Layet, Valérie; Leroux, Dominique; Cohen-Haguenauer, Odile; Prieur, Fabienne; Mouret-Fourme, Emmanuelle; Cornélis, François; Jonveaux, Philippe; Bera, Odile; Cavaciuti, Eve; Tardivon, Anne; Lesueur, Fabienne; Mazoyer, Sylvie; Stoppa-Lyonnet, Dominique; Andrieu, Nadine

    2016-01-12

    Less than 20% of familial breast cancer patients who undergo genetic testing for BRCA1 and BRCA2 carry a pathogenic mutation in one of these two genes. The GENESIS (GENE SISter) study was designed to identify new breast cancer susceptibility genes in women attending cancer genetics clinics and with no BRCA1/2 mutation. The study involved the French national network of family cancer clinics. It was based on enrichment in genetic factors of the recruited population through case selection relying on familial criteria, but also on the consideration of environmental factors and endophenotypes like mammary density or tumor characteristics to assess potential genetic heterogeneity. One of the initial aims of GENESIS was to recruit affected sibpairs. Siblings were eligible when index cases and at least one affected sister were diagnosed with infiltrating mammary or ductal adenocarcinoma, with no BRCA1/2 mutation. In addition, unrelated controls and unaffected sisters were recruited. The enrolment of patients, their relatives and their controls, the collection of the clinical, epidemiological, familial and biological data were centralized by a coordinating center. Inclusion of participants started in February 2007 and ended in December 2013. A total of 1721 index cases, 826 affected sisters, 599 unaffected sisters and 1419 controls were included. 98% of participants completed the epidemiological questionnaire, 97% provided a blood sample, and 76% were able to provide mammograms. Index cases were on average 59 years old at inclusion, were born in 1950, and were 49.7 years of age at breast cancer diagnosis. The mean age at diagnosis of affected sisters was slightly higher (51.4 years). The representativeness of the control group was verified. The size of the study, the availability of biological specimens and the clinical data collection together with the detailed and complete epidemiological questionnaire make this a unique national resource for investigation of the missing

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

    Science.gov (United States)

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

    2013-08-01

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

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

    Science.gov (United States)

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

    2017-04-01

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

  3. 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.

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

    DEFF Research Database (Denmark)

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

    2014-01-01

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

  5. Size distributions of dicarboxylic acids, ketoacids, α-dicarbonyls, sugars, WSOC, OC, EC and inorganic ions in atmospheric particles over Northern Japan: implication for long-range transport of Siberian biomass burning and East Asian polluted aerosols

    Directory of Open Access Journals (Sweden)

    S. Agarwal

    2010-07-01

    Full Text Available To better understand the size-segregated chemical composition of aged organic aerosols in the western North Pacific rim, day- and night-time aerosol samples were collected in Sapporo, Japan during summer 2005 using an Andersen impactor sampler with 5 size bins: Dp<1.1, 1.1–2.0, 2.0–3.3, 3.3–7.0, >7.0 μm. Samples were analyzed for the molecular composition of dicarboxylic acids, ketoacids, α-dicarbonyls, and sugars, together with water-soluble organic carbon (WSOC, organic carbon (OC, elemental carbon (EC and inorganic ions. Based on the analyses of backward trajectories and chemical tracers, we found that during the campaign, air masses arrived from Siberia (a biomass burning source region on 8–9 August, from China (an anthropogenic source region on 9–10 August, and from the East China Sea/Sea of Japan (a mixed source receptor region on 10–11 August. Most of the diacids, ketoacids, dicarbonyls, levoglucosan, WSOC, and inorganic ions (i.e., SO42−, NH4+ and K+ were enriched in fine particles (PM1.1 whereas Ca2+, Mg2+ and Cl peaked in coarse sizes (>1.1 μm. Interestingly, OC, most sugar compounds and NO3 showed bimodal distributions in fine and coarse modes. In PM1.1, diacids in biomass burning-influenced aerosols transported from Siberia (mean: 252 ng m−3 were more abundant than those in the aerosols originating from China (209 ng m−3 and ocean (142 ng m−3, whereas SO42− concentrations were highest in the aerosols from China (mean: 3970 ng m−3 followed by marine- (2950 ng m−3 and biomass burning-influenced (1980 ng m−3 aerosols. Higher loadings of WSOC (2430 ng m−3 and OC (4360 ng m−3 were found in the fine mode, where biomass-burning products such as

  6. Harnessing genomics to identify environmental determinants of heritable disease

    Science.gov (United States)

    De novo mutation is increasingly being recognized as the cause for a range of human genetic diseases and disorders. Important examples of this include inherited genetic disorders such as autism, schizophrenia, mental retardation, epilepsy, and a broad range of adverse reproductiv...

  7. Variance component estimates for alternative litter size traits in swine.

    Science.gov (United States)

    Putz, A M; Tiezzi, F; Maltecca, C; Gray, K A; Knauer, M T

    2015-11-01

    Litter size at d 5 (LS5) has been shown to be an effective trait to increase total number born (TNB) while simultaneously decreasing preweaning mortality. The objective of this study was to determine the optimal litter size day for selection (i.e., other than d 5). Traits included TNB, number born alive (NBA), litter size at d 2, 5, 10, 30 (LS2, LS5, LS10, LS30, respectively), litter size at weaning (LSW), number weaned (NW), piglet mortality at d 30 (MortD30), and average piglet birth weight (BirthWt). Litter size traits were assigned to biological litters and treated as a trait of the sow. In contrast, NW was the number of piglets weaned by the nurse dam. Bivariate animal models included farm, year-season, and parity as fixed effects. Number born alive was fit as a covariate for BirthWt. Random effects included additive genetics and the permanent environment of the sow. Variance components were plotted for TNB, NBA, and LS2 to LS30 using univariate animal models to determine how variances changed over time. Additive genetic variance was minimized at d 7 in Large White and at d 14 in Landrace pigs. Total phenotypic variance for litter size traits decreased over the first 10 d and then stabilized. Heritability estimates increased between TNB and LS30. Genetic correlations between TNB, NBA, and LS2 to LS29 with LS30 plateaued within the first 10 d. A genetic correlation with LS30 of 0.95 was reached at d 4 for Large White and at d 8 for Landrace pigs. Heritability estimates ranged from 0.07 to 0.13 for litter size traits and MortD30. Birth weight had an h of 0.24 and 0.26 for Large White and Landrace pigs, respectively. Genetic correlations among LS30, LSW, and NW ranged from 0.97 to 1.00. In the Large White breed, genetic correlations between MortD30 with TNB and LS30 were 0.23 and -0.64, respectively. These correlations were 0.10 and -0.61 in the Landrace breed. A high genetic correlation of 0.98 and 0.97 was observed between LS10 and NW for Large White and

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

    DEFF Research Database (Denmark)

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

    This study was aimed at assessing the genetic parameters for fertility-related traits, comparing the interval from calving to first insemination (ICF) to physical activity traits, especially days from calving to first high activity, DFHA. Data from commercial Holstein herds included insemination...... dates of 11,363 cows for ICF. The activity traits were derived from electronic activity tags for 3533 Holstein cows. Estimates of heritability were 0.05 for ICF and 0.15 for DFHA. The genetic correlation between ICF and DFHA was strong (0.92). The high heritability estimate and the strong genetic...

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

    DEFF Research Database (Denmark)

    Lan, Jinfeng; Pang, Zengchang; Wang, Shaojie

    2010-01-01

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

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

    DEFF Research Database (Denmark)

    Damborg, Frank; Engell, Vilhelm; Andersen, Mikkel

    2006-01-01

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

  11. Indirect genetic effects contribute substantially to heritable variation in aggression-related traits in group-housed mink (Neovison vison).

    Science.gov (United States)

    Alemu, Setegn Worku; Bijma, Piter; Møller, Steen Henrik; Janss, Luc; Berg, Peer

    2014-05-07

    Since the recommendations on group housing of mink (Neovison vison) were adopted by the Council of Europe in 1999, it has become common in mink production in Europe. Group housing is advantageous from a production perspective, but can lead to aggression between animals and thus raises a welfare issue. Bite marks on the animals are an indicator of this aggressive behaviour and thus selection against frequency of bite marks should reduce aggression and improve animal welfare. Bite marks on one individual reflect the aggression of its group members, which means that the number of bite marks carried by one individual depends on the behaviour of other individuals and that it may have a genetic basis. Thus, for a successful breeding strategy it could be crucial to consider both direct (DGE) and indirect (IGE) genetic effects on this trait. However, to date no study has investigated the genetic basis of bite marks in mink. A model that included DGE and IGE fitted the data significantly better than a model with DGE only, and IGE contributed a substantial proportion of the heritable variation available for response to selection. In the model with IGE, the total heritable variation expressed as the proportion of phenotypic variance (T2) was six times greater than classical heritability (h2). For instance, for total bite marks, T2 was equal to 0.61, while h2 was equal to 0.10. The genetic correlation between direct and indirect effects ranged from 0.55 for neck bite marks to 0.99 for tail bite marks. This positive correlation suggests that mink have a tendency to fight in a reciprocal way (giving and receiving bites) and thus, a genotype that confers a tendency to bite other individuals can also cause its bearer to receive more bites. Both direct and indirect genetic effects contribute to variation in number of bite marks in group-housed mink. Thus, a genetic selection design that includes both direct genetic and indirect genetic effects could reduce the frequency of bite

  12. Inheritance, Realized Heritability, and Biochemical Mechanisms of Malathion Resistance in Bactrocera dorsalis (Diptera: Tephritidae).

    Science.gov (United States)

    Wang, Luo-Luo; Feng, Zi-Jiao; Li, Ting; Lu, Xue-Ping; Zhao, Jia-Jia; Niu, Jin-Zhi; Smagghe, Guy; Wang, Jin-Jun

    2016-02-01

    To better characterize the resistance development and therefore establish effective pest management strategies, this study was undertaken to investigate the inheritance mode and biochemical mechanisms of malathion resistance in the oriental fruit fly, Bactrocera dorsalis (Hendel), which is one of the most notorious pests in the world. After 22 generations of selection with malathion, the malathion-resistant (MR) strain of B. dorsalis developed a 34-fold resistance compared with a laboratory susceptible strain [malathion-susceptible (MS)]. Bioassay results showed that there was no significant difference between the LD50 values of malathion against the progenies from both reciprocal crosses (F(1)-SR and F(1)-RS). The degree of dominance values (D) was calculated as 0.39 and 0.32 for F(1)-RS and F(1)-SR, respectively. The logarithm dosage-probit mortality lines of the F(2) generation and progeny from the backcross showed no clear plateaus of mortality across a range of doses. In addition, Chi-square analysis revealed significant differences between the mortality data and the theoretical expectations. The realized heritability (h(2)) value was 0.16 in the laboratory-selected resistant strain of B. dorsalis. Enzymatic activities identified significant changes of carboxylesterases, cytochrome P450 (general oxidases), and glutathione S-transferases in MR compared with the MS strain of B. dorsalis. Taken together, this study revealed for the first time that malathion resistance in B. dorsalis follows an autosomal, incompletely dominant, and polygenic mode of inheritance and is closely associated with significantly elevated activities of three major detoxification enzymes. © The Authors 2015. Published by Oxford University Press on behalf of Entomological Society of America. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

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

    DEFF Research Database (Denmark)

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

    2010-01-01

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

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

    NARCIS (Netherlands)

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

    2015-01-01

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

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

    Science.gov (United States)

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

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

    Directory of Open Access Journals (Sweden)

    Kenneth Day

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

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

    NARCIS (Netherlands)

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

    2011-01-01

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

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

    DEFF Research Database (Denmark)

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

    2003-01-01

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

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

    Science.gov (United States)

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

    2013-05-01

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

  20. 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.

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

    NARCIS (Netherlands)

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

    2007-01-01

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

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

    Science.gov (United States)

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

    2012-10-01

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

  3. 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...

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

    Science.gov (United States)

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

    2009-01-01

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

  5. 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.

  6. 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 ...

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

    Science.gov (United States)

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

    2002-01-01

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

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

    Science.gov (United States)

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

    2014-03-01

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

  9. 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

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

    DEFF Research Database (Denmark)

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

    2016-01-01

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

  11. 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

  12. 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.

  13. 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

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

    NARCIS (Netherlands)

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

    2009-01-01

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

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

    Science.gov (United States)

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

    2012-01-01

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

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

    NARCIS (Netherlands)

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

    2006-01-01

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

  17. 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...

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

    African Journals Online (AJOL)

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

  19. 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

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

    NARCIS (Netherlands)

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

    1998-01-01

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

  1. 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

  2. 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

  3. 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

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

    NARCIS (Netherlands)

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

    2008-01-01

    In an extended twin study we estimated the heritability of fasting HbA1c and blood glucose levels. Blood glucose was assessed in different settings (at home and in the clinic). We tested whether the genetic factors influencing fasting blood glucose levels overlapped with those influencing HbA1c and

  5. Sex differences and heritability of two indices of heart rate dynamics: A twin study.

    NARCIS (Netherlands)

    Snieder, H.; van Doornen, L.J.P.; Boomsma, D.I.; Thayer, J.F.

    2007-01-01

    We investigated whether women show larger heart rate variability (HRV) than men after controlling for a large number of health-related covariates, using two indices of HRV, namely respiratory sinus arrhythmia (RSA) and approximate entropy (ApEn). In a twin design, the heritability of both indices

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

    Directory of Open Access Journals (Sweden)

    Benavides Manuel A. Gastelo

    2017-11-01

    Full Text Available High temperatures affect potato production in the tropics, putting tuber yield and quality at risk and leading to increased glycoalkaloid concentration the cause of the bitter taste in potatoes and a cause for concern for human health. The International Potato Center (CIP, has developed new heat tolerant clones which are heat tolerant and also resistant to late blight. These clones offer an opportunity to evaluate yield and glycoalkaloid levels after growth under high temperature environments. We evaluated four sets of 16 full-sib families and 20 clones for tuber yield and glycoalkaloid content in order to estimate narrow-sense and broad-sense heritability respectively. We used a randomized complete block design replicated in three locations in Peru; San Ramon, La Molina and Majes At harvest, the number and weight of marketable and nonmarketable tubers were recorded. We analyzed samples of tubers from each clone for glycoalkaloid content using spectrophotometry. Narrow-sense heritability for tuber yield, tuber number and average tuber weight were 0.41, 0.50 and 0.83, respectively, indicating that further gains in breeding for heat tolerance will be possible. Broadsense heritability for glycoalkaloid content was 0.63 and correlation with tuber yield was weak, r=0.33 and R²=0.11 (P<0.01. High heritability and weak correlation will allow us to select clones with high tuber yield and low glycoalkaloid content, to serve as candidate varieties and parents in breeding programs.

  7. The heritability of glaucoma-related traits corneal hysteresis, central corneal thickness, intraocular pressure, and choroidal blood flow pulsatility.

    Science.gov (United States)

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

    2013-01-01

    The purpose of this work was to investigate the heritability of potential glaucoma endophenotypes. We estimated for the first time the heritability of the pulsatility of choroidal blood flow. We also sought to confirm the heritability of corneal hysteresis, central corneal thickness, and 3 ways of measuring intraocular pressure. Measurements were performed on 96 first-degree relatives recruited from Maisonneuve-Rosemont Hospital in Montreal. Corneal hysteresis was determined using the Reichert Ocular Response Analyser. Central corneal thickness was measured with an ultrasound pachymeter. Three measures of intraocular pressure were obtained: Goldmann-correlated and corneal compensated intraocular pressure using the Ocular Response Analyser, and Pascal intraocular pressure using the Pascal Dynamic Contour Tonometer. The pulsatility of choroidal blood velocity and flow were measured in the sub-foveolar choroid using single-point laser Doppler flowmetry (Oculix). We estimated heritability using maximum-likelihood variance components methods implemented in the SOLAR software. No significant heritability was detected for the pulsatility of choroidal blood flow or velocity. The Goldman-correlated, corneal compensated, and Pascal measures of intraocular pressure measures were all significantly heritable at 0.94, 0.79, and 0.53 after age and sex adjustment (p = 0.0003, p = 0.0023, p = 0.0239). Central corneal thickness was significantly heritable at 0.68 (p = 0.0078). Corneal hysteresis was highly heritable but the estimate was at the upper boundary of 1.00 preventing us from giving a precise estimate. Corneal hysteresis, central corneal thickness, and intraocular pressure are all heritable and may be suitable as glaucoma endophenotypes. The pulsatility of choroidal blood flow and blood velocity were not significantly heritable in this sample.

  8. The heritability of glaucoma-related traits corneal hysteresis, central corneal thickness, intraocular pressure, and choroidal blood flow pulsatility.

    Directory of Open Access Journals (Sweden)

    Ellen E Freeman

    Full Text Available PURPOSE: The purpose of this work was to investigate the heritability of potential glaucoma endophenotypes. We estimated for the first time the heritability of the pulsatility of choroidal blood flow. We also sought to confirm the heritability of corneal hysteresis, central corneal thickness, and 3 ways of measuring intraocular pressure. METHODS: Measurements were performed on 96 first-degree relatives recruited from Maisonneuve-Rosemont Hospital in Montreal. Corneal hysteresis was determined using the Reichert Ocular Response Analyser. Central corneal thickness was measured with an ultrasound pachymeter. Three measures of intraocular pressure were obtained: Goldmann-correlated and corneal compensated intraocular pressure using the Ocular Response Analyser, and Pascal intraocular pressure using the Pascal Dynamic Contour Tonometer. The pulsatility of choroidal blood velocity and flow were measured in the sub-foveolar choroid using single-point laser Doppler flowmetry (Oculix. We estimated heritability using maximum-likelihood variance components methods implemented in the SOLAR software. RESULTS: No significant heritability was detected for the pulsatility of choroidal blood flow or velocity. The Goldman-correlated, corneal compensated, and Pascal measures of intraocular pressure measures were all significantly heritable at 0.94, 0.79, and 0.53 after age and sex adjustment (p = 0.0003, p = 0.0023, p = 0.0239. Central corneal thickness was significantly heritable at 0.68 (p = 0.0078. Corneal hysteresis was highly heritable but the estimate was at the upper boundary of 1.00 preventing us from giving a precise estimate. CONCLUSION: Corneal hysteresis, central corneal thickness, and intraocular pressure are all heritable and may be suitable as glaucoma endophenotypes. The pulsatility of choroidal blood flow and blood velocity were not significantly heritable in this sample.

  9. Heritability of the Severity of the Metabolic Syndrome in Whites and Blacks in 3 Large Cohorts.

    Science.gov (United States)

    Musani, Solomon K; Martin, Lisa J; Woo, Jessica G; Olivier, Michael; Gurka, Matthew J; DeBoer, Mark D

    2017-04-01

    Although dichotomous criteria for the metabolic syndrome (MetS) appear heritable, it is not known whether MetS severity as assessed by a continuous MetS score is heritable and whether this varies by race. We used SOLAR (Sequential Oligogenic Linkage Analysis Routines) to evaluate heritability of Adult Treatment Panel-III MetS and a sex- and race-specific MetS severity Z score among 3 large familial cohorts: the JHS (Jackson Heart Study, 1404 black participants), TOPS (Take Off Pounds Sensibly, 1947 white participants), and PLRS (Princeton Lipid Research Study, 229 black and 527 white participants). Heritability estimates were larger for Adult Treatment Panel-III MetS among black compared with white cohort members (JHS 0.48; 95% confidence interval [CI], 0.28-0.68 and PLRS blacks 0.93 [95% CI, 0.73-1.13] versus TOPS 0.21 [95% CI, -0.18 to 0.60] and PLRS whites 0.27 [95% CI, -0.04 to 0.58]). The difference by race narrowed when assessing heritability of the MetS severity score (JHS 0.52 [95% CI, 0.38, 0.66] and PLRS blacks 0.64 [95% CI, 0.13-1.15] versus TOPS 0.23 [95% CI, 0.15-0.31] and PLRS whites 0.60 [95% CI, 0.33-0.87]). There was a high degree of genetic and phenotypic correlation between MetS severity and the individual components of MetS among all groups, although the genetic correlations failed to reach statistical significance among PLRS blacks. Meta-analyses revealed a combined heritability estimate for Adult Treatment Panel-III MetS of 0.24 (95% CI, 0.11-0.36) and for the MetS severity score of 0.50 (95% CI, -0.05 to 0.99). MetS severity seems highly heritable among whites and blacks. This continuous MetS severity Z score may provide a more useful means of characterizing phenotypic MetS in genetic studies by minimizing racial differences. © 2017 American Heart Association, Inc.

  10. 5C.09: HERITABILITY OF RENAL FUNCTION PARAMETERS AND ELECTROLYTE LEVELS IN THE SWISS POPULATION.

    Science.gov (United States)

    Moulin, F; Ponte, B; Pruijm, M; Ackermann, D; Guessous, I; Ehret, G; Bonny, O; Pechere-Bertschi, A; Staessen, J A; Paccaud, F; Mohaupt, M; Martin, P Y; Burnier, M; Vogt, B; Devuyst, O; Bochud, M

    2015-06-01

    Electrolytes handling by the kidney is essential for volume and blood pressure (BP) homeostasis but their distribution and heritability are not well described. We estimated the heritability of kidney function as well as of serum and urine concentrations, renal clearances and fractional excretions for sodium, chloride, potassium, calcium, phosphate and magnesium in a Swiss population-based study. Nuclear families were randomly selected from the general population in Switzerland. We estimated glomerular filtration rate (eGFR) using the CKD-EPI and MDRD equations. Urine was collected separately during day and night over 24-hour. We used the ASSOC program (S.A.G.E.) to estimate narrow sense heritability, including as covariates in the model: age, sex, body mass index and study center. The 1128 participants (537 men and 591 women from 273 families), had mean (sd) age of 47.4(17.5) years, body mass index of 25.0 (4.5) kg/m2 and CKD-EPI of 98.0(18.5) mL/min/1.73 m2. Heritability estimates (SE) were 46.0% (0.06), 48.0% (0.06) and 18.0% (0.06) for CKD-EPI, MDRD and 24-hour creatinine clearance (P < 0.05), respectively. Heritability [SE] of serum concentration was highest for calcium (37%[0.06]) and lowest for sodium (13%[0.05]). Heritabilities [SE] of 24-h urine concentrations and excretions, and of fractional excretions were highest for calcium (51%[0.06], 44%[0.06] and 51%[0.06], respectively) and lowest for potassium (11%[0.05], 10%[0.05] and 16%[0.06], respectively). All results were statistically different from zero.(Figure is included in full-text article.) : Serum and urine levels, urinary excretions and renal handling of electrolytes, particularly calcium, are heritable in the general adult population. Identifying genetic variants involved in electrolytes homeostasis may provide useful insight into the pathophysiological mechanisms involved in common chronic diseases such as kidney diseases, hypertension and diabetes.

  11. Scaled photographs of surf over the full range of breaker sizes on the north shore of Oahu and Jaws, Maui, Hawaiian Islands, 1998-01 to 2004-05 (NODC Accession 0001753)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Digital surf photographs were scaled using surfers as height benchmarks to estimate the size of the breakers. Historical databases for surf height in Hawaii are...

  12. Heritability of optic disc diameters: a twin study

    DEFF Research Database (Denmark)

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

    2011-01-01

    Purpose: To assess the relative influence of genetic and environmental factors on optic disc size and cup/disc ratio in healthy eyes. Methods: A sample of 55 monozygotic and 50 dizygotic healthy twin pairs aged 20-46, all having the same sex within pairs (47 pairs were male) had optic discs......: 20-45%). For cup/disc ratio, additive genetic and unshared environmental factors explained 66% (95% CI: 48-77%) and 34% (95% CI: 23-52%) of the variations, respectively. Discussion: In this healthy twin sample, we found that three quarters of the variations in vertical optic disc and optic cup...

  13. Heritability of tic disorders : a twin-family study

    NARCIS (Netherlands)

    Rodrigues Zilhao Nogueira, N.; Olthof, M C; Smit, D J A; Cath, D.C.; Ligthart, L; Mathews, C.A.; Delucchi, K.; Boomsma, D I; Dolan, C V

    BACKGROUND: 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

  14. Sexual variation in heritability and genetic correlations of morphological traits in house sparrow (Passer domesticus).

    Science.gov (United States)

    Jensen, H; Saether, B E; Ringsby, T H; Tufto, J; Griffith, S C; Ellegren, H

    2003-11-01

    Estimates of genetic components are important for our understanding of how individual characteristics are transferred between generations. We show that the level of heritability varies between 0.12 and 0.68 in six morphological traits in house sparrows (Passer domesticus L.) in northern Norway. Positive and negative genetic correlations were present among traits, suggesting evolutionary constraints on the evolution of some of these characters. A sexual difference in the amount of heritable genetic variation was found in tarsus length, wing length, bill depth and body condition index, with generally higher heritability in females. In addition, the structure of the genetic variance-covariance matrix for the traits differed between the sexes. Genetic correlations between males and females for the morphological traits were however large and not significantly different from one, indicating that sex-specific responses to selection will be influenced by intersexual differences in selection differentials. Despite this, some traits had heritability above 0.1 in females, even after conditioning on the additive genetic covariance between sexes and the additive genetic variances in males. Moreover, a meta-analysis indicated that higher heritability in females than in males may be common in birds. Thus, this indicates sexual differences in the genetic architecture of birds. Consequently, as in house sparrows, the evolutionary responses to selection will often be larger in females than males. Hence, our results suggest that sex-specific additive genetic variances and covariances, although ignored in most studies, should be included when making predictions of evolutionary changes from standard quantitative genetic models.

  15. 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

  16. Rhizosphere size

    Science.gov (United States)

    Kuzyakov, Yakov; Razavi, Bahar

    2017-04-01

    Estimation of the soil volume affected by roots - the rhizosphere - is crucial to assess the effects of plants on properties and processes in soils and dynamics of nutrients, water, microorganisms and soil organic matter. The challenges to assess the rhizosphere size are: 1) the continuum of properties between the root surface and root-free soil, 2) differences in the distributions of various properties (carbon, microorganisms and their activities, various nutrients, enzymes, etc.) along and across the roots, 3) temporal changes of properties and processes. Thus, to describe the rhizosphere size and root effects, a holistic approach is necessary. We collected literature and own data on the rhizosphere gradients of a broad range of physico-chemical and biological properties: pH, CO2, oxygen, redox potential, water uptake, various nutrients (C, N, P, K, Ca, Mg, Mn and Fe), organic compounds (glucose, carboxylic acids, amino acids), activities of enzymes of C, N, P and S cycles. The collected data were obtained based on the destructive approaches (thin layer slicing), rhizotron studies and in situ visualization techniques: optodes, zymography, sensitive gels, 14C and neutron imaging. The root effects were pronounced from less than 0.5 mm (nutrients with slow diffusion) up to more than 50 mm (for gases). However, the most common effects were between 1 - 10 mm. Sharp gradients (e.g. for P, carboxylic acids, enzyme activities) allowed to calculate clear rhizosphere boundaries and so, the soil volume affected by roots. The first analyses were done to assess the effects of soil texture and moisture as well as root system and age on these gradients. The most properties can be described by two curve types: exponential saturation and S curve, each with increasing and decreasing concentration profiles from the root surface. The gradient based distribution functions were calculated and used to extrapolate on the whole soil depending on the root density and rooting intensity. We

  17. Generation Scotland: the Scottish Family Health Study; a new resource for researching genes and heritability

    Directory of Open Access Journals (Sweden)

    Ralston Stuart H

    2006-10-01

    Full Text Available Abstract Background Generation Scotland: the Scottish Family Health Study aims to identify genetic variants accounting for variation in levels of quantitative traits underlying the major common complex diseases (such as cardiovascular disease, cognitive decline, mental illness in Scotland. Methods/Design Generation Scotland will recruit a family-based cohort of up to 50,000 individuals (comprising siblings and parent-offspring groups across Scotland. It will be a six-year programme, beginning in Glasgow and Tayside in the first two years (Phase 1 before extending to other parts of Scotland in the remaining four years (Phase 2. In Phase 1, individuals aged between 35 and 55 years, living in the East and West of Scotland will be invited to participate, along with at least one (and preferably more siblings and any other first degree relatives aged 18 or over. The total initial sample size will be 15,000 and it is planned that this will increase to 50,000 in Phase 2. All participants will be asked to contribute blood samples from which DNA will be extracted and stored for future investigation. The information from the DNA, along with answers to a life-style and medical history questionnaire, clinical and biochemical measurements taken at the time of donation, and subsequent health developments over the life course (traced through electronic health records will be stored and used for research purposes. In addition, a detailed public consultation process will begin that will allow respondents' views to shape and develop the study. This is an important aspect to the research, and forms the continuation of a long-term parallel engagement process. Discussion As well as gene identification, the family-based study design will allow measurement of the heritability and familial aggregation of relevant quantitative traits, and the study of how genetic effects may vary by parent-of-origin. Long-term potential outcomes of this research include the targeting of

  18. The heritability of alcoholism symptoms: "indicators of genetic and environmental influence in alcohol-dependent individuals" revisited.

    Science.gov (United States)

    Slutske, W S; True, W R; Scherrer, J F; Heath, A C; Bucholz, K K; Eisen, S A; Goldberg, J; Lyons, M J; Tsuang, M T

    1999-05-01

    There is consistent evidence from twin and adoption studies implicating genetic factors in the etiology of alcoholism, yet few studies have examined the role of genetic influences on individual symptoms of alcoholism. In a previous study of 113 male twins, Johnson et al. (1996a) identified 7 alcoholism symptoms that were more "genetic" and 14 that were more "environmental" (that is, non-genetic) in their etiology by examining symptom concordances among monozygotic and dizygotic twin pairs. The present study represents an attempt to replicate the results of this previous study and extend them by estimating the contribution of genetic factors to the variation in liability for different alcoholism symptoms. Subjects were 3356 male twin pairs from the Vietnam Era Twin Registry. Lifetime histories of alcoholism symptoms were assessed by a structured psychiatric telephone interview. The results of the previous study were not replicated. The correlations between symptom classifications as genetic and non-genetic in the present and previous study were nonsignificant and ranged from -0.27 to 0.11. However, within the present study the correlation between symptom classifications as genetic and non-genetic was statistically significant across random split-half subsamples (r = 0.59); nine alcoholism symptoms were consistently classified as genetic and six symptoms as non-genetic in their etiology. Model-fitting analyses applied to different alcoholism symptoms yielded heritability estimates ranging from 0.03 to 0.53 with broad and overlapping confidence intervals around these estimates, ranging from 0.00 to 0.65. The results of this study highlight the difficulty of identifying more or less heritable phenotypes in twin research, and suggest that it may not be possible to identify specific alcoholism symptoms that are more genetic in their etiology than others. Nevertheless, there appears to be potentially important variation in the relative magnitude of genetic influences for

  19. Genetic variances, heritabilities and maternal effects on body weight, breast meat yield, meat quality traits and the shape of the growth curve in turkey birds

    Directory of Open Access Journals (Sweden)

    Ducro Bart J

    2011-01-01

    Full Text Available Abstract Background Turkey is an important agricultural species and is largely used as a meat bird. In 2004, turkey represented 6.5% of the world poultry meat production. The world-wide turkey population has rapidly grown due to increased commercial farming. Due to the high demand for turkey meat from both consumers and industry global turkey stocks increased from 100 million in 1970 to over 276 million in 2004. This rapidly increasing importance of turkeys was a reason to design this study for the estimation of genetic parameters that control body weight, body composition, meat quality traits and parameters that shape the growth curve in turkey birds. Results The average heritability estimate for body weight traits was 0.38, except for early weights that were strongly affected by maternal effects. This study showed that body weight traits, upper asymptote (a growth curve trait, percent breast meat and redness of meat had high heritability whereas heritabilities of breast length, breast width, percent drip loss, ultimate pH, lightness and yellowness of meat were medium to low. We found high positive genetic and phenotypic correlations between body weight, upper asymptote, most breast meat yield traits and percent drip loss but percent drip loss was found strongly negatively correlated with ultimate pH. Percent breast meat, however, showed genetic correlations close to zero with body weight traits and upper asymptote. Conclusion The results of this analysis and the growth curve from the studied population of turkey birds suggest that the turkey birds could be selected for breeding between 60 and 80 days of age in order to improve overall production and the production of desirable cuts of meat. The continuous selection of birds within this age range could promote high growth rates but specific attention to meat quality would be needed to avoid a negative impact on the quality of meat.

  20. Genetic variances, heritabilities and maternal effects on body weight, breast meat yield, meat quality traits and the shape of the growth curve in turkey birds.

    Science.gov (United States)

    Aslam, Muhammad L; Bastiaansen, John Wm; Crooijmans, Richard Pma; Ducro, Bart J; Vereijken, Addie; Groenen, Martien Am

    2011-01-25

    Turkey is an important agricultural species and is largely used as a meat bird. In 2004, turkey represented 6.5% of the world poultry meat production. The world-wide turkey population has rapidly grown due to increased commercial farming. Due to the high demand for turkey meat from both consumers and industry global turkey stocks increased from 100 million in 1970 to over 276 million in 2004. This rapidly increasing importance of turkeys was a reason to design this study for the estimation of genetic parameters that control body weight, body composition, meat quality traits and parameters that shape the growth curve in turkey birds. The average heritability estimate for body weight traits was 0.38, except for early weights that were strongly affected by maternal effects. This study showed that body weight traits, upper asymptote (a growth curve trait), percent breast meat and redness of meat had high heritability whereas heritabilities of breast length, breast width, percent drip loss, ultimate pH, lightness and yellowness of meat were medium to low. We found high positive genetic and phenotypic correlations between body weight, upper asymptote, most breast meat yield traits and percent drip loss but percent drip loss was found strongly negatively correlated with ultimate pH. Percent breast meat, however, showed genetic correlations close to zero with body weight traits and upper asymptote. The results of this analysis and the growth curve from the studied population of turkey birds suggest that the turkey birds could be selected for breeding between 60 and 80 days of age in order to improve overall production and the production of desirable cuts of meat. The continuous selection of birds within this age range could promote high growth rates but specific attention to meat quality would be needed to avoid a negative impact on the quality of meat.

  1. Genomic selection for growth and wood quality in Eucalyptus: capturing the missing heritability and accelerating breeding for complex traits in forest trees.

    Science.gov (United States)

    Resende, Marcos D V; Resende, Márcio F R; Sansaloni, Carolina P; Petroli, Cesar D; Missiaggia, Alexandre A; Aguiar, Aurelio M; Abad, Jupiter M; Takahashi, Elizabete K; Rosado, Antonio M; Faria, Danielle A; Pappas, Georgios J; Kilian, Andrzej; Grattapaglia, Dario

    2012-04-01

    • Genomic selection (GS) is expected to cause a paradigm shift in tree breeding by improving its speed and efficiency. By fitting all the genome-wide markers concurrently, GS can capture most of the 'missing heritability' of complex traits that quantitative trait locus (QTL) and association mapping classically fail to explain. Experimental support of GS is now required. • The effectiveness of GS was assessed in two unrelated Eucalyptus breeding populations with contrasting effective population sizes (N(e) = 11 and 51) genotyped with > 3000 DArT markers. Prediction models were developed for tree circumference and height growth, wood specific gravity and pulp yield using random regression best linear unbiased predictor (BLUP). • Accuracies of GS varied between 0.55 and 0.88, matching the accuracies achieved by conventional phenotypic selection. Substantial proportions (74-97%) of trait heritability were captured by fitting all genome-wide markers simultaneously. Genomic regions explaining trait variation largely coincided between populations, although GS models predicted poorly across populations, likely as a result of variable patterns of linkage disequilibrium, inconsistent allelic effects and genotype × environment interaction. • GS brings a new perspective to the understanding of quantitative trait variation in forest trees and provides a revolutionary tool for applied tree improvement. Nevertheless population-specific predictive models will likely drive the initial applications of GS in forest tree breeding. © 2012 The Authors. New Phytologist © 2012 New Phytologist Trust.

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

    DEFF Research Database (Denmark)

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

    2014-01-01

    risk and liability. Results: The cumulative risk of prostate cancer was similar to that of the background population. The cumulative risk for twins whose co-twin was diagnosed with prostate cancer was greater for MZ than for DZ twins across all ages. Among concordantly affected pairs, the time between......Background: Prostate cancer is thought to be the most heritable cancer, although little is known about how this genetic contribution varies across age. Methods: To address this question, we undertook the world's largest prospective study in the Nordic Twin Study of Cancer cohort, including 18...... diagnoses was significantly shorter for MZ than DZ pairs (median 3.8 versus 6.5 years, respectively). Genetic differences contributed substantially to variation in both the risk and the liability (heritability=58% (95% CI 52%-63%) of developing prostate cancer. The relative contribution of genetic factors...

  3. Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism.

    Science.gov (United States)

    Jamain, Stephane; Radyushkin, Konstantin; Hammerschmidt, Kurt; Granon, Sylvie; Boretius, Susann; Varoqueaux, Frederique; Ramanantsoa, Nelina; Gallego, Jorge; Ronnenberg, Anja; Winter, Dorina; Frahm, Jens; Fischer, Julia; Bourgeron, Thomas; Ehrenreich, Hannelore; Brose, Nils

    2008-02-05

    Autism spectrum conditions (ASCs) are heritable conditions characterized by impaired reciprocal social interactions, deficits in language acquisition, and repetitive and restricted behaviors and interests. In addition to more complex genetic susceptibilities, even mutation of a single gene can lead to ASC. Several such monogenic heritable ASC forms are caused by loss-of-function mutations in genes encoding regulators of synapse function in neurons, including NLGN4. We report that mice with a loss-of-function mutation in the murine NLGN4 ortholog Nlgn4, which encodes the synaptic cell adhesion protein Neuroligin-4, exhibit highly selective deficits in reciprocal social interactions and communication that are reminiscent of ASCs in humans. Our findings indicate that a protein network that regulates the maturation and function of synapses in the brain is at the core of a major ASC susceptibility pathway, and establish Neuroligin-4-deficient mice as genetic models for the exploration of the complex neurobiological disorders in ASCs.

  4. Probability and heritability estimates on primary osteoarthritis of the hip leading to total hip arthroplasty

    DEFF Research Database (Denmark)

    Skousgaard, Søren Glud; Hjelmborg, Jacob; Skytthe, Axel

    2015-01-01

    INTRODUCTION: Primary hip osteoarthritis, radiographic as well as symptomatic, is highly associated with increasing age in both genders. However, little is known about the mechanisms behind this, in particular if this increase is caused by genetic factors. This study examined the risk......-associated genetic influence onwards from 60 years of age. CONCLUSION: The cumulative incidence in primary hip osteoarthritis leading to total hip arthroplasty increases in particular after the age of 50 years in both genders. Family factors of genes and shared environment are highly significant and account for 68...... and heritability of primary osteoarthritis of the hip leading to a total hip arthroplasty, and if this heritability increased with increasing age. METHODS: In a nationwide population-based follow-up study 118,788 twins from the Danish Twin Register and 90,007 individuals from the Danish Hip Arthroplasty Register...

  5. 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...

  6. Lessons from model organisms: phenotypic robustness and missing heritability in complex disease.

    Directory of Open Access Journals (Sweden)

    Christine Queitsch

    Full Text Available Genetically tractable model organisms from phages to mice have taught us invaluable lessons about fundamental biological processes and disease-causing mutations. Owing to technological and computational advances, human biology and the causes of human diseases have become accessible as never before. Progress in identifying genetic determinants for human diseases has been most remarkable for Mendelian traits. In contrast, identifying genetic determinants for complex diseases such as diabetes, cancer, and cardiovascular and neurological diseases has remained challenging, despite the fact that these diseases cluster in families. Hundreds of variants associated with complex diseases have been found in genome-wide association studies (GWAS, yet most of these variants explain only a modest amount of the observed heritability, a phenomenon known as "missing heritability." The missing heritability has been attributed to many factors, mainly inadequacies in genotyping and phenotyping. We argue that lessons learned about complex traits in model organisms offer an alternative explanation for missing heritability in humans. In diverse model organisms, phenotypic robustness differs among individuals, and those with decreased robustness show increased penetrance of mutations and express previously cryptic genetic variation. We propose that phenotypic robustness also differs among humans and that individuals with lower robustness will be more responsive to genetic and environmental perturbations and hence susceptible to disease. Phenotypic robustness is a quantitative trait that can be accurately measured in model organisms, but not as yet in humans. We propose feasible approaches to measure robustness in large human populations, proof-of-principle experiments for robustness markers in model organisms, and a new GWAS design that takes differences in robustness into account.

  7. Variability, heritability and genetic association in vegetable amaranth (Amaranthus tricolorL.)

    OpenAIRE

    Umakanta Sarker; Md Tofazzal Islam; Md. Golam Rabbani; Shinya Oba

    2015-01-01

    Forty three vegetable amaranth (Amaranthus tricolor L.) genotypes selected from different eco-geographic regions of Bangladesh were evaluated during 3 years (2012-2014) for genetic variability, heritability and genetic association among mineral elements and quality and agronomic traits in randomized complete block design (RCBD) with five replications. The analysis showed that vegetable amaranth is a rich source of K, Ca, Mg, proteins and dietary fibre with average values among the 43 genotype...

  8. 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.

  9. 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.

  10. 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.

  11. 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.

  12. 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

  13. Heritability of human cranial dimensions: comparing the evolvability of different cranial regions.

    Science.gov (United States)

    Martínez-Abadías, Neus; Esparza, Mireia; Sjøvold, Torstein; González-José, Rolando; Santos, Mauro; Hernández, Miquel

    2009-01-01

    Quantitative craniometrical traits have been successfully incorporated into population genetic methods to provide insight into human population structure. However, little is known about the degree of genetic and non-genetic influences on the phenotypic expression of functionally based traits. Many studies have assessed the heritability of craniofacial traits, but complex patterns of correlation among traits have been disregarded. This is a pitfall as the human skull is strongly integrated. Here we reconsider the evolutionary potential of craniometric traits by assessing their heritability values as well as their patterns of genetic and phenotypic correlation using a large pedigree-structured skull series from Hallstatt (Austria). The sample includes 355 complete adult skulls that have been analysed using 3D geometric morphometric techniques. Heritability estimates for 58 cranial linear distances were computed using maximum likelihood methods. These distances were assigned to the main functional and developmental regions of the skull. Results showed that the human skull has substantial amounts of genetic variation, and a t-test showed that there are no statistically significant differences among the heritabilities of facial, neurocranial and basal dimensions. However, skull evolvability is limited by complex patterns of genetic correlation. Phenotypic and genetic patterns of correlation are consistent but do not support traditional hypotheses of integration of the human shape, showing that the classification between brachy- and dolicephalic skulls is not grounded on the genetic level. Here we support previous findings in the mouse cranium and provide empirical evidence that covariation between the maximum widths of the main developmental regions of the skull is the dominant factor of integration in the human skull.

  14. Heritability of physical activity traits in Brazilian families: the Baependi Heart Study

    Directory of Open Access Journals (Sweden)

    Horimoto Andréa RVR

    2011-11-01

    Full Text Available Abstract Background It is commonly recognized that physical activity has familial aggregation; however, the genetic influences on physical activity phenotypes are not well characterized. This study aimed to (1 estimate the heritability of physical activity traits in Brazilian families; and (2 investigate whether genetic and environmental variance components contribute differently to the expression of these phenotypes in males and females. Methods The sample that constitutes the Baependi Heart Study is comprised of 1,693 individuals in 95 Brazilian families. The phenotypes were self-reported in a questionnaire based on the WHO-MONICA instrument. Variance component approaches, implemented in the SOLAR (Sequential Oligogenic Linkage Analysis Routines computer package, were applied to estimate the heritability and to evaluate the heterogeneity of variance components by gender on the studied phenotypes. Results The heritability estimates were intermediate (35% for weekly physical activity among non-sedentary subjects (weekly PA_NS, and low (9-14% for sedentarism, weekly physical activity (weekly PA, and level of daily physical activity (daily PA. Significant evidence for heterogeneity in variance components by gender was observed for the sedentarism and weekly PA phenotypes. No significant gender differences in genetic or environmental variance components were observed for the weekly PA_NS trait. The daily PA phenotype was predominantly influenced by environmental factors, with larger effects in males than in females. Conclusions Heritability estimates for physical activity phenotypes in this sample of the Brazilian population were significant in both males and females, and varied from low to intermediate magnitude. Significant evidence for heterogeneity in variance components by gender was observed. These data add to the knowledge of the physical activity traits in the Brazilian study population, and are concordant with the notion of significant

  15. Heritability of Boldness and Hypoxia Avoidance in European Seabass, Dicentrarchus labrax

    OpenAIRE

    Horri, Khaled; Allal, François; Vergnet, Alain; Benhaim, David; Vandeputte, Marc; Chatain, Béatrice

    2016-01-01

    To understand the genetic basis of coping style in European seabass, fish from a full factorial mating (10 females x 50 males) were reared in common garden and individually tagged. Individuals coping style was characterized through behavior tests at four different ages, categorizing fish into proactive or reactive: a hypoxia avoidance test (at 255 days post hatching, dph) and 3 risk-taking tests (at 276, 286 and 304 dph). We observed significant heritability of the coping style, higher for th...

  16. Heritable alteration of DNA methylation induced by whole-chromosome aneuploidy in wheat.

    Science.gov (United States)

    Gao, Lihong; Diarso, Moussa; Zhang, Ai; Zhang, Huakun; Dong, Yuzhu; Liu, Lixia; Lv, Zhenling; Liu, Bao

    2016-01-01

    Aneuploidy causes changes in gene expression and phenotypes in all organisms studied. A previous study in the model plant Arabidopsis thaliana showed that aneuploidy-generated phenotypic changes can be inherited to euploid progenies and implicated an epigenetic underpinning of the heritable variations. Based on an analysis by amplified fragment length polymorphism and methylation-sensitive amplified fragment length polymorphism markers, we found that although genetic changes at the nucleotide sequence level were negligible, extensive changes in cytosine DNA methylation patterns occurred in all studied homeologous group 1 whole-chromosome aneuploid lines of common wheat (Triticum aestivum), with monosomic 1A showing the greatest amount of methylation changes. The changed methylation patterns were inherited by euploid progenies derived from the aneuploid parents. The aneuploidy-induced DNA methylation alterations and their heritability were verified at selected loci by bisulfite sequencing. Our data have provided empirical evidence supporting earlier suggestions that heritability of aneuploidy-generated, but aneuploidy-independent, phenotypic variations may have an epigenetic basis. That at least one type of aneuploidy - monosomic 1A - was able to cause significant epigenetic divergence of the aneuploid plants and their euploid progenies also lends support to recent suggestions that aneuploidy may have played an important and protracted role in polyploid genome evolution. © 2015 The Authors. New Phytologist © 2015 New Phytologist Trust.

  17. GAMETOPHYTIC SELECTION IN RAPHANUS RAPHANISTRUM: A TEST FOR HERITABLE VARIATION IN POLLEN COMPETITIVE ABILITY.

    Science.gov (United States)

    Snow, Allison A; Mazer, Susan J

    1988-09-01

    Competition among many microgametophytes for a limited number of ovules can lead to both nonrandom fertilization by pollen genotypes and selection for greater sporophytic vigor. The evolutionary implications of this process depend on the extent of heritable genetic variation for pollen competitive ability. Using flower color in wild radish as a genetic marker, we demonstrate differences among pollen donors in competitive ability. Significant differences were found in four out of five pairs of donors. For three pairs of donors, competitive differences were observed in certain maternal plants but not others. To test for heritability of pollen performance, we conducted a selection experiment. We manipulated the intensity of pollen competition for two generations and then tested for differences in the performance of pollen from two selected lines. Competitive ability of pollen derived from each line was assessed relative to a standard unrelated pollen donor, using pollen mixtures on six wild maternal plants. The intensity of previous pollen competition had no overall effect on the proportion of seeds sired by each selected line. In two maternal plants, pollen from intense previous competition was actually inferior, contrary to expectation. Thus, we found no evidence for heritable variation in this trait. Other factors, such as male-female interactions, may influence the outcome of pollen competition. Prevailing theory on the genetic basis of effects of pollen competition on subsequent generations is not supported by our results. Improved protocols for future experiments are discussed. © 1988 The Society for the Study of Evolution.

  18. Diversity and heritability of the maize rhizosphere microbiome under field conditions

    Science.gov (United States)

    Peiffer, Jason A.; Spor, Aymé; Koren, Omry; Jin, Zhao; Tringe, Susannah Green; Dangl, Jeffery L.; Buckler, Edward S.; Ley, Ruth E.

    2013-01-01

    The rhizosphere is a critical interface supporting the exchange of resources between plants and their associated soil environment. Rhizosphere microbial diversity is influenced by the physical and chemical properties of the rhizosphere, some of which are determined by the genetics of the host plant. However, within a plant species, the impact of genetic variation on the composition of the microbiota is poorly understood. Here, we characterized the rhizosphere bacterial diversity of 27 modern maize inbreds possessing exceptional genetic diversity grown under field conditions. Randomized and replicated plots of the inbreds were planted in five field environments in three states, each with unique soils and management conditions. Using pyrosequencing of bacterial 16S rRNA genes, we observed substantial variation in bacterial richness, diversity, and relative abundances of taxa between bulk soil and the maize rhizosphere, as well as between fields. The rhizospheres from maize inbreds exhibited both a small but significant proportion of heritable variation in total bacterial diversity across fields, and substantially more heritable variation between replicates of the inbreds within each field. The results of this study should facilitate expanded studies to identify robust heritable plant–microbe interactions at the level of individual polymorphisms by genome wide association, so that plant-microbiome interactions can ultimately be incorporated into plant breeding. PMID:23576752

  19. Estimates of Genotype x Environment Interactions and Heritability of Black Point in Durum Wheat

    Directory of Open Access Journals (Sweden)

    Hasan Hasan KILIÇ

    2009-12-01

    Full Text Available Experiments were carried out in four different locations with 14 durum wheat genotypes in two successful seasons of 1999- 2000 and 2000-2001. Black point disease of genotypes was evaluated by interactions of genotypes and environment as well as heritability (h2. It was found that black point disease affected differently in different locations and growing seasons. This indicates that the genotypes have different adaptation ability for traits studied in different locations. Heritability rate that variance analyzes accepted means squares calculated was found as phenotypic variance rate of genotypic variance was found as 49%. Variance of genotype x location x year was bigger than other variance components. Genotype x year variance was bigger than genotype x location variance too. The heritability of black point disease was founded moderate. In addition to one of factors on the black point disease genotype also environment x genotype interactions were found effective. According to evaluation of black point disease, the highest value was obtained from ‘Sorgül’ (2.7%, ‘Dicle-74’ (2.56% and ‘Gidara-II’ (2.32% varieties; the least value was obtained from ‘Balcali-2000’ variety (0.64%. Alternaria spp., Phoma sp, Fusarium spp., Helminthosporium spp., and Stemphylium spp., fungi were isolated from the grain affected by black point diseases.

  20. Heritability of the Effective Connectivity in the Resting-State Default Mode Network.

    Science.gov (United States)

    Xu, Junhai; Yin, Xuntao; Ge, Haitao; Han, Yan; Pang, Zengchang; Liu, Baolin; Liu, Shuwei; Friston, Karl

    2016-11-23

    The default mode network (DMN) is thought to reflect endogenous neural activity, which is considered as one of the most intriguing phenomena in cognitive neuroscience. Previous studies have found that key regions within the DMN are highly interconnected. Here, we characterized the genetic influences on causal or directed information flow within the DMN during the resting state. In this study, we recruited 46 pairs of twins and collected fMRI imaging data using a 3.0 T scanner. Dynamic causal modeling was conducted for each participant, and a structural equation model was used to calculate the heritability of DMN in terms of its effective connectivity. Model comparison favored a full-connected model. Structural equal modeling was used to estimate the additive genetics (A), common environment (C) and unique environment (E) contributions to variance for the DMN effective connectivity. The ACE model was preferred in the comparison of structural equation models. Heritability of DMN effective connectivity was 0.54, suggesting that the genetic made a greater contribution to the effective connectivity within DMN. Establishing the heritability of default-mode effective connectivity endorses the use of resting-state networks as endophenotypes or intermediate phenotypes in the search for the genetic basis of psychiatric or neurological illnesses. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

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

    Directory of Open Access Journals (Sweden)

    Wei Wei

    Full Text Available We report the establishment of an efficient and heritable gene mutagenesis method in the silkworm Bombyx mori using modified type II clustered regularly interspaced short palindromic repeats (CRISPR with an associated protein (Cas9 system. Using four loci Bm-ok, BmKMO, BmTH, and Bmtan as candidates, we proved that genome alterations at specific sites could be induced by direct microinjection of specific guide RNA and Cas9-mRNA into silkworm embryos. Mutation frequencies of 16.7-35.0% were observed in the injected generation, and DNA fragments deletions were also noted. Bm-ok mosaic mutants were used to test for mutant heritability due to the easily determined translucent epidermal phenotype of Bm-ok-disrupted cells. Two crossing strategies were used. In the first, injected Bm-ok moths were crossed with wild-type moths, and a 28.6% frequency of germline mutation transmission was observed. In the second strategy, two Bm-ok mosaic mutant moths were crossed with each other, and 93.6% of the offsprings appeared mutations in both alleles of Bm-ok gene (compound heterozygous. In summary, the CRISPR/Cas9 system can act as a highly specific and heritable gene-editing tool in Bombyx mori.

  2. Polygenic risk score and heritability estimates reveals a genetic relationship between ASD and OCD.

    Science.gov (United States)

    Guo, W; Samuels, J F; Wang, Y; Cao, H; Ritter, M; Nestadt, P S; Krasnow, J; Greenberg, B D; Fyer, A J; McCracken, J T; Geller, D A; Murphy, D L; Knowles, J A; Grados, M A; Riddle, M A; Rasmussen, S A; McLaughlin, N C; Nurmi, E L; Askland, K D; Cullen, B A; Piacentini, J; Pauls, D L; Bienvenu, O J; Stewart, S E; Goes, F S; Maher, B; Pulver, A E; Valle, D; Mattheisen, M; Qian, J; Nestadt, G; Shugart, Y Y

    2017-07-01

    Obsessive-compulsive disorder (OCD) and Autism spectrum disorder (ASD) are both highly heritable neurodevelopmental disorders that conceivably share genetic risk factors. However, the underlying genetic determinants remain largely unknown. In this work, the authors describe a combined genome-wide association study (GWAS) of ASD and OCD. The OCD dataset includes 2998 individuals in nuclear families. The ASD dataset includes 6898 individuals in case-parents trios. GWAS summary statistics were examined for potential enrichment of functional variants associated with gene expression levels in brain regions. The top ranked SNP is rs4785741 (chromosome 16) with P value=6.9×10-7 in our re-analysis. Polygenic risk score analyses were conducted to investigate the genetic relationship within and across the two disorders. These analyses identified a significant polygenic component of ASD, predicting 0.11% of the phenotypic variance in an independent OCD data set. In addition, we examined the genomic architecture of ASD and OCD by estimating heritability on different chromosomes and different allele frequencies, analyzing genome-wide common variant data by using the Genome-wide Complex Trait Analysis (GCTA) program. The estimated global heritability of OCD is 0.427 (se=0.093) and 0.174 (se=0.053) for ASD in these imputed data. Published by Elsevier B.V.

  3. Heritability of body weight and resistance to ammonia in the Pacific white shrimp Litopenaeus vannamei juveniles

    Science.gov (United States)

    Li, Wenjia; Lu, Xia; Luan, Sheng; Luo, Kun; Sui, Juan; Kong, Jie

    2016-09-01

    Ammonia, toxic to aquaculture organisms, represents a potential problem in aquaculture systems, and the situation is exacerbated in closed and intensive shrimp farming operations, expecially for Litopenaeus vannamei. Assessing the potential for the genetic improvement of resistance to ammonia in L. vannamei requires knowledge of the genetic parameters of this trait. The heritability of resistance to ammonia was estimated using two descriptors in the present study: the survival time (ST) and the survival status at half lethal time (SS50) for each individual under high ammonia challenge. The heritability of ST and SS50 were low (0.154 4±0.044 6 and 0.147 5±0.040 0, respectively), but they were both significantly different from zero ( P0.05), suggesting that ST and SS50 could be used as suitable indicators for resistance to ammonia. There were also positive phenotypic and genetic correlation between resistance to ammonia and body weight, which means that resistance to ammonia can be enhanced by the improvement of husbandry practices that increase the body weight. The results from the present study suggest that the selection for higher body weight does not have any negative consequences for resistance to ammonia. In addition to quantitative genetics, tools from molecular genetics can be applied to selective breeding programs to improve the efficiency of selection for traits with low heritability.

  4. Lineage Tracking for Probing Heritable Phenotypes at Single-Cell Resolution

    Science.gov (United States)

    Cottinet, Denis; Condamine, Florence; Bremond, Nicolas; Griffiths, Andrew D.; Rainey, Paul B.; de Visser, J. Arjan G. M.; Baudry, Jean; Bibette, Jérôme

    2016-01-01

    Determining the phenotype and genotype of single cells is central to understand microbial evolution. DNA sequencing technologies allow the detection of mutants at high resolution, but similar approaches for phenotypic analyses are still lacking. We show that a drop-based millifluidic system enables the detection of heritable phenotypic changes in evolving bacterial populations. At time intervals, cells were sampled and individually compartmentalized in 100 nL drops. Growth through 15 generations was monitored using a fluorescent protein reporter. Amplification of heritable changes–via growth–over multiple generations yields phenotypically distinct clusters reflecting variation relevant for evolution. To demonstrate the utility of this approach, we follow the evolution of Escherichia coli populations during 30 days of starvation. Phenotypic diversity was observed to rapidly increase upon starvation with the emergence of heritable phenotypes. Mutations corresponding to each phenotypic class were identified by DNA sequencing. This scalable lineage-tracking technology opens the door to large-scale phenotyping methods with special utility for microbiology and microbial population biology. PMID:27077662

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

    Science.gov (United States)

    Verhoeven, Koen J F; Jansen, Jeroen J; van Dijk, Peter J; Biere, Arjen

    2010-03-01

    *DNA methylation can cause heritable phenotypic modifications in the absence of changes in DNA sequence. Environmental stresses can trigger methylation changes and this may have evolutionary consequences, even in the absence of sequence variation. However, it remains largely unknown to what extent environmentally induced methylation changes are transmitted to offspring, and whether observed methylation variation is truly independent or a downstream consequence of genetic variation between individuals. *Genetically identical apomictic dandelion (Taraxacum officinale) plants were exposed to different ecological stresses, and apomictic offspring were raised in a common unstressed environment. We used methylation-sensitive amplified fragment length polymorphism markers to screen genome-wide methylation alterations triggered by stress treatments and to assess the heritability of induced changes. *Various stresses, most notably chemical induction of herbivore and pathogen defenses, triggered considerable methylation variation throughout the genome. Many modifications were faithfully transmitted to offspring. Stresses caused some epigenetic divergence between treatment and controls, but also increased epigenetic variation among plants within treatments. *These results show the following. First, stress-induced methylation changes are common and are mostly heritable. Second, sequence-independent, autonomous methylation variation is readily generated. This highlights the potential of epigenetic inheritance to play an independent role in evolutionary processes, which is superimposed on the system of genetic inheritance.

  6. Single nucleotide polymorphisms (SNPs are inherited from parents and they measure heritable events

    Directory of Open Access Journals (Sweden)

    Hemminki Kari

    2005-01-01

    Full Text Available Abstract Single nucleotide polymorphisms (SNPs are extensively used in case-control studies of practically all cancer types. They are used for the identification of inherited cancer susceptibility genes and those that may interact with environmental factors. However, being genetic markers, they are applicable only on heritable conditions, which is often a neglected fact. Based on the data in the nationwide Swedish Family-Cancer Database, we review familial risks for all main cancers and discuss the evidence for a heritable component in cancer. The available evidence is not conclusive but it is consistent in pointing to a minor heritable etiology in cancer, which will hamper the success of SNP-based association studies. Empirical familial risks should be used as guidance for the planning of SNP studies. We provide calculations for the assessment of familial risks for assumed allele frequencies and gene effects (odds ratios for different modes of inheritance. Based on these data, we discuss the gene effects that could account for the unexplained proportion of familial breast and lung cancer. As a conclusion, we are concerned about the indiscriminate use of a genetic tool to cancers, which are mainly environmental in origin. We consider the likelihood of a successful application of SNPs in gene-environment studies small, unless established environmental risk factors are tested on proven candidate genes.

  7. Heritability and whole genome linkage of pulse pressure in Chinese twin pairs

    DEFF Research Database (Denmark)

    Jiang, Wengjie; Zhang, Dongfeng; Pang, Zengchang

    2012-01-01

    with a heritability estimate of 0.45. Genome-wide non-parametric linkage analysis identified three significant linkage peaks on chromosome 11 (lod score 4.06 at 30.5 cM), chromosome 12 (lod score 3.97 at 100.7 cM), and chromosome 18 (lod score 4.01 at 70.7 cM) with the last two peaks closely overlapping with linkage...... to the phenotype. We report results on our heritability and linkage study conducted on the Chinese population in mainland China where cardiovascular and cerebrovascular diseases are becoming the leading cause of death. A total of 630 pairs of middle-aged Chinese twins were collected for heritability analysis, from...... which 63 dizygotic twin pairs were randomly selected for genome-wide linkage analysis using Affymetrix 6.0 SNP array. Regression analysis reconfirmed the significant effects of age, sex, and BMI on pulse pressure. Comparison of twin models suggested the parsimonious AE model as the best model...

  8. Plastic germline reprogramming of heritable small RNAs enables maintenance or erasure of epigenetic memories.

    Science.gov (United States)

    Houri-Ze'evi, Leah; Rechavi, Oded

    2016-12-01

    In Caenorhabditis elegans small RNAs can regulate genes across generations. The mysterious tendency of heritable RNA interference (RNAi) responses to terminate after 3-5 generations has been referred to as "the bottleneck to RNAi inheritance." We have recently shown that the re-setting of epigenetic inheritance after 3-5 generations is not due to passive dilution of the original RNA trigger, but instead results from an active, multigenerational, and small RNA-mediated regulatory pathway. In this "Point of View" manuscript we suggest that the process that leads to the erasure of the ancestral small RNA-encoded memory is a specialized type of germline reprogramming mechanism, analogous to the processes that robustly remove parental DNA methylation and histone modifications early in development in different organisms. Traditionally, germline reprogramming mechanisms that re-set chromatin are thought to stand in the way of inheritance of memories of parental experiences. We found that reprogramming of heritable small RNAs takes multiple generations to complete, enabling long-term inheritance of small RNA responses. Moreover, the duration of this reprogramming process can be prolonged significantly if new heritable RNAi responses are provoked. A dedicated signaling pathway that is responsive to environmental cues can tune the epigenetic state of the RNAi inheritance system, so that inheritance of particular small RNA species can be extended.

  9. Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence.

    Science.gov (United States)

    St Pourcain, Beate; Haworth, C M A; Davis, O S P; Wang, Kai; Timpson, Nicholas J; Evans, David M; Kemp, John P; Ronald, Angelica; Price, Tom; Meaburn, Emma; Ring, Susan M; Golding, Jean; Hakonarson, Hakon; Plomin, R; Davey Smith, George

    2015-06-01

    Peer behaviour plays an important role in the development of social adjustment, though little is known about its genetic architecture. We conducted a twin study combined with a genome-wide complex trait analysis (GCTA) and a genome-wide screen to characterise genetic influences on problematic peer behaviour during childhood and adolescence. This included a series of longitudinal measures (parent-reported Strengths-and-Difficulties Questionnaire) from a UK population-based birth-cohort (ALSPAC, 4-17 years), and a UK twin sample (TEDS, 4-11 years). Longitudinal twin analysis (TEDS; N ≤ 7,366 twin pairs) showed that peer problems in childhood are heritable (4-11 years, 0.60 adolescence (13-17 years, 0.14 peer problems with the highest GCTA-heritability (10, 13 and 17 years, 0.0002 peer relationships are heritable but genetically complex and heterogeneous from age to age, with an increase in common measurable genetic variation during adolescence.

  10. The heritability of vessel size of the pampiniform plexus as a means to assess the genetic component of varicocele

    Science.gov (United States)

    Ultrasonography of each testicle was used to capture a coronal-saggital image of the veins of the pampiniform plexus (PP) and the testicular artery of 239 boars at approximately 6 months of age. Three to 10 vessels of the PP were used to derive the average area of right PP vessels (AAR) and the aver...

  11. Blending of heritable recognition cues among ant nestmates creates distinct colony gestalt odours but prevents within-colony nepotism

    DEFF Research Database (Denmark)

    van Zweden, Jelle Stijn; Brask, Josefine B.; Christensen, Jan H.

    2010-01-01

    members to create a Gestalt odour. Although earlier studies have established that hydrocarbon profiles are influenced by heritable factors, transfer among nestmates and additional environmental factors, no studies have quantified these relative contributions for separate compounds. Here, we use the ant...... Formica rufibarbis in a cross-fostering design to test the degree to which hydrocarbons are heritably synthesized by young workers and transferred by their foster workers. Bioassays show that nestmate recognition has a significant heritable component. Multivariate quantitative analyses based on 38...... discrimination or as nestmate recognition cues. These results indicate that heritable compounds are suitable for establishing a genetic Gestalt for efficient nestmate recognition, but that recognition cues within colonies are insufficiently distinct to allow nepotistic kin discrimination....

  12. Expression of multiple sexual signals by fathers and sons in the East-Mediterranean barn swallow: are advertising strategies heritable?

    National Research Council Canada - National Science Library

    Vortman, Yoni; Safran, Rebecca J; Reiner Brodetzki, Tali; Dor, Roi; Lotem, Arnon

    2015-01-01

    ... of a strategy for resource allocation among signals. As a result, even when the expression of sexual signals is condition dependent, the relative level of expression of each signal may be heritable...

  13. The Evolution of Human Intelligence and the Coefficient of Additive Genetic Variance in Human Brain Size

    Science.gov (United States)

    Miller, Geoffrey F.; Penke, Lars

    2007-01-01

    Most theories of human mental evolution assume that selection favored higher intelligence and larger brains, which should have reduced genetic variance in both. However, adult human intelligence remains highly heritable, and is genetically correlated with brain size. This conflict might be resolved by estimating the coefficient of additive genetic…

  14. Blending of heritable recognition cues among ant nestmates creates distinct colony gestalt odours but prevents within-colony nepotism.

    Science.gov (United States)

    van Zweden, J S; Brask, J B; Christensen, J H; Boomsma, J J; Linksvayer, T A; d'Ettorre, P

    2010-07-01

    The evolution of sociality is facilitated by the recognition of close kin, but if kin recognition is too accurate, nepotistic behaviour within societies can dissolve social cohesion. In social insects, cuticular hydrocarbons act as nestmate recognition cues and are usually mixed among colony members to create a Gestalt odour. Although earlier studies have established that hydrocarbon profiles are influenced by heritable factors, transfer among nestmates and additional environmental factors, no studies have quantified these relative contributions for separate compounds. Here, we use the ant Formica rufibarbis in a cross-fostering design to test the degree to which hydrocarbons are heritably synthesized by young workers and transferred by their foster workers. Bioassays show that nestmate recognition has a significant heritable component. Multivariate quantitative analyses based on 38 hydrocarbons reveal that a subset of branched alkanes are heritably synthesized, but that these are also extensively transferred among nestmates. In contrast, especially linear alkanes are less heritable and little transferred; these are therefore unlikely to act as cues that allow within-colony nepotistic discrimination or as nestmate recognition cues. These results indicate that heritable compounds are suitable for establishing a genetic Gestalt for efficient nestmate recognition, but that recognition cues within colonies are insufficiently distinct to allow nepotistic kin discrimination.

  15. Selection for number of live piglets at five-days of age increased litter size and reduced mortality

    DEFF Research Database (Denmark)

    Nielsen, Bjarne; Madsen, Per; Henryon, Mark

    2012-01-01

    . The heritabilities of maternal effect on litter size were 0.079 and 0.095 in Landrace and Yorkshir e. The heritabilities of maternal effect on piglet-mortality rates were 0.069 and 0.082 in Landrace and Yorkshire. The genetic correlation between litter size and mortality rate were unfavourable; and the estimates......-netic gain has reduced the piglet mortality rate by 4 %-points in Landrace and Yorkshire from 2004 to 2010. The genetics gain was confirmed by decreased phenotypic annual mortality rates in the breeding and multiplier herds....

  16. Clinical phenotypes and outcomes of heritable and sporadic pulmonary veno-occlusive disease: a population-based study.

    Science.gov (United States)

    Montani, David; Girerd, Barbara; Jaïs, Xavier; Levy, Marilyne; Amar, David; Savale, Laurent; Dorfmüller, Peter; Seferian, Andrei; Lau, Edmund M; Eyries, Mélanie; Le Pavec, Jérôme; Parent, Florence; Bonnet, Damien; Soubrier, Florent; Fadel, Elie; Sitbon, Olivier; Simonneau, Gérald; Humbert, Marc

    2017-02-01

    EIF2AK4 mutations occurred from birth to age 50 years, and these patients were younger at presentation than non-carriers (median 26·0 years [range 0-50.3] vs 60·0 years [6·7-81·4] years; p<0·0001). At diagnosis, both mutations carriers and non-carriers had similarly severe precapillary pulmonary hypertension and functional impairment. 22 (81%) of mutations carriers and 63 (94%) of non-carriers received therapy approved for pulmonary arterial hypertension. Drug-induced pulmonary oedema occurred in five (23%) of treated EIF2AK4 mutations carriers and 13 (21%) of treated non-carriers. Follow-up assessment after initiation of treatment showed that only three (4%) patients with PVOD/PCH reached the predefined criteria for satisfactory clinical response. The probabilities of event-free survival (death or transplantation) at 1 and 3 years were 63% and 32% in EIF2AK4 mutations carriers, and 75% and 34% in non-carriers. No significant differences occurred in event-free survival between the 2 groups (p=0·38). Among the 33 patients who had lung transplantation, estimated post-transplantation survival rates at 1, 2, and 5 years were 84%, 81%, and 73%, respectively. Heritable PVOD/PCH due to bi-allelic EIF2AK4 mutations is characterised by a younger age at diagnosis but these patients display similar disease severity compared with mutation non-carriers. Response to therapy approved for pulmonary arterial hypertension in PVOD/PCH is rare. PVOD/PCH is a devastating condition and lung transplantation should be considered for eligible patients. None. Copyright © 2017 Elsevier Ltd. All rights reserved.

  17. Joint hypermobility and the heritable disorders of connective tissue: clinical and empirical evidence of links with psychiatry.

    Science.gov (United States)

    Baeza-Velasco, Carolina; Pailhez, Guillem; Bulbena, Antonio; Baghdadli, Amaria

    2015-01-01

    The heritable disorders of connective tissue (HDCTs) are a group of genetic disorders affecting connective tissue matrix proteins. Fragility, laxity of tissues and joint hypermobility (JH) are commons features of HDCT for which the prognosis may range from benign to life threatening. JH and HDCTs, especially joint hypermobility syndrome, Ehlers-Danlos syndromes and Marfan syndrome, have been associated with psychiatric symptomatology. We explored the existing knowledge concerning this association in order to provide an overview of mental disorders linked to JH/HDCT, as well as the hypotheses proposed to explain such association. A comprehensive search of scientific online databases and references lists was conducted, encompassing publications based on quantitative and qualitative research, including case reports. Psychiatric conditions in which there is some evidence of an association with JH/HDCT are anxiety disorders, depression, schizophrenia, neurodevelopmental disorders (autism, attention deficit/hyperactivity disorder, and developmental coordination disorder), eating disorders, personality disorders and substance use/misuse. Despite the need of more research, the available data highlight the importance of examining psychiatric symptoms in those affected by JH/HDCT and the importance of providing interventions with a multidisciplinary approach. The relationship between JH/HDCT and mental disorders merits further attention in order to improve current knowledge and clarify a possible common etiology. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes.

    Directory of Open Access Journals (Sweden)

    Michela Traglia

    2009-10-01

    Full Text Available Isolated populations are a useful resource for mapping complex traits due to shared stable environment, reduced genetic complexity and extended Linkage Disequilibrium (LD compared to the general population. Here we describe a large genetic isolate from the North West Apennines, the mountain range that runs through Italy from the North West Alps to the South.The study involved 1,803 people living in 7 villages of the upper Borbera Valley. For this large population cohort, data from genealogy reconstruction, medical questionnaires, blood, anthropometric and bone status QUS parameters were evaluated. Demographic and epidemiological analyses indicated a substantial genetic component contributing to each trait variation as well as overlapping genetic determinants and family clustering for some traits.The data provide evidence for significant heritability of medical relevant traits that will be important in mapping quantitative traits. We suggest that this population isolate is suitable to identify rare variants associated with complex phenotypes that may be difficult to study in larger but more heterogeneous populations.

  19. On Range of Skill

    DEFF Research Database (Denmark)

    Hansen, Thomas Dueholm; Miltersen, Peter Bro; Sørensen, Troels Bjerre

    2008-01-01

    is a small number, but only gave heuristic arguments for this. In this paper, we provide the first methods for rigorously estimating the Range of Skill of a given game. We provide some general, asymptotic bounds that imply that the Range of Skill of a perfectly balanced game tree is almost exponential in its......At AAAI'07, Zinkevich, Bowling and Burch introduced the Range