WorldWideScience

Sample records for genetic correlation

  1. Genetic correlations with ethanol withdrawal severity.

    Science.gov (United States)

    Crabbe, J C; Young, E R; Kosobud, A

    1983-01-01

    A major goal of pharmacogenetic research on alcoholism remains the identification of some "marker" that could predict the liability of a particular individual for a genetic susceptibility to develop alcoholism. The present paper presents evidence that the severity of withdrawal from physical dependence on ethanol varies widely among inbred strains of mice, and that withdrawal severity is negatively genetically correlated with initial sensitivity and magnitude of tolerance to ethanol hypothermia. These correlations are supported by differences in hypothermic response between replicate lines of mice genetically selected for susceptibility and resistance to ethanol withdrawal seizures. The genetic relationships reported suggest that the effects of ethanol on thermoregulation in mice may offer a predictive marker for susceptibility to ethanol physical dependence.

  2. Genetic correlation between smoking behaviors and schizophrenia.

    Science.gov (United States)

    Hartz, Sarah M; Horton, Amy C; Hancock, Dana B; Baker, Timothy B; Caporaso, Neil E; Chen, Li-Shiun; Hokanson, John E; Lutz, Sharon M; Marazita, Mary L; McNeil, Daniel W; Pato, Carlos N; Pato, Michele T; Johnson, Eric O; Bierut, Laura J

    2017-03-08

    Nicotine dependence is highly comorbid with schizophrenia, and the etiology of the comorbidity is unknown. To determine whether there is a genetic correlation of smoking behavior with schizophrenia, genome-wide association study (GWAS) meta-analysis results from five smoking phenotypes (ever/never smoker (N=74,035), age of onset of smoking (N=28,647), cigarettes smoked per day (CPD, N=38,860), nicotine dependence (N=10,666), and current/former smoker (N=40,562)) were compared to GWAS meta-analysis results from schizophrenia (N=79,845) using linkage disequilibrium (LD) score regression. First, the SNP heritability (h(2)g) of each of the smoking phenotypes was computed using LD score regression (ever/never smoker h(2)g=0.08, age of onset of smoking h(2)g=0.06, CPD h(2)g=0.06, nicotine dependence h(2)g=0.15, current/former smoker h(2)g=0.07, p<0.001 for all phenotypes). The SNP heritability for nicotine dependence was statistically higher than the SNP heritability for the other smoking phenotypes (p<0.0005 for all two-way comparisons). Next, a statistically significant (p<0.05) genetic correlation was observed between schizophrenia and three of the five smoking phenotypes (nicotine dependence rg=0.14, CPD rg=0.12, and ever/never smoking rg=0.10). These results suggest that there is a component of common genetic variation that is shared between smoking behaviors and schizophrenia. Copyright © 2017 Elsevier B.V. All rights reserved.

  3. Spurious correlations and inference in landscape genetics

    Science.gov (United States)

    Samuel A. Cushman; Erin L. Landguth

    2010-01-01

    Reliable interpretation of landscape genetic analyses depends on statistical methods that have high power to identify the correct process driving gene flow while rejecting incorrect alternative hypotheses. Little is known about statistical power and inference in individual-based landscape genetics. Our objective was to evaluate the power of causalmodelling with partial...

  4. An atlas of genetic correlations across human diseases and traits

    DEFF Research Database (Denmark)

    Bulik-Sullivan, Brendan; Finucane, Hilary K; Anttila, Verneri;

    2015-01-01

    Identifying genetic correlations between complex traits and diseases can provide useful etiological insights and help prioritize likely causal relationships. The major challenges preventing estimation of genetic correlation from genome-wide association study (GWAS) data with current methods...... are the lack of availability of individual-level genotype data and widespread sample overlap among meta-analyses. We circumvent these difficulties by introducing a technique-cross-trait LD Score regression-for estimating genetic correlation that requires only GWAS summary statistics and is not biased by sample...... overlap. We use this method to estimate 276 genetic correlations among 24 traits. The results include genetic correlations between anorexia nervosa and schizophrenia, anorexia and obesity, and educational attainment and several diseases. These results highlight the power of genome-wide analyses...

  5. Transethnic Genetic-Correlation Estimates from Summary Statistics.

    Science.gov (United States)

    Brown, Brielin C; Ye, Chun Jimmie; Price, Alkes L; Zaitlen, Noah

    2016-07-07

    The increasing number of genetic association studies conducted in multiple populations provides an unprecedented opportunity to study how the genetic architecture of complex phenotypes varies between populations, a problem important for both medical and population genetics. Here, we have developed a method for estimating the transethnic genetic correlation: the correlation of causal-variant effect sizes at SNPs common in populations. This methods takes advantage of the entire spectrum of SNP associations and uses only summary-level data from genome-wide association studies. This avoids the computational costs and privacy concerns associated with genotype-level information while remaining scalable to hundreds of thousands of individuals and millions of SNPs. We applied our method to data on gene expression, rheumatoid arthritis, and type 2 diabetes and overwhelmingly found that the genetic correlation was significantly less than 1. Our method is implemented in a Python package called Popcorn.

  6. Genetic Correlation between Body Fat Percentage and Cardiorespiratory Fitness Suggests Common Genetic Etiology

    DEFF Research Database (Denmark)

    Schnurr, Theresia Maria; Gjesing, Anette Marianne Prior; Sandholt, Camilla Helene

    2016-01-01

    Objectives: It has long been discussed whether fitness or fatness is a more important determinant of health status. If the same genetic factors that promote body fat percentage (body fat%) are related to cardiorespiratory fitness (CRF), part of the concurrent associations with health outcomes could...... reflect a common genetic origin. In this study we aimed to 1) examine genetic correlations between body fat% and CRF; 2) determine whether CRF can be attributed to a genetic risk score (GRS) based on known body fat% increasing loci; and 3) examine whether the fat mass and obesity associated (FTO) locus...... associates with CRF. Methods: Genetic correlations based on pedigree information were examined in a family based cohort (n = 230 from 55 families). For the genetic association analyses, we examined two Danish population-based cohorts (ntotal = 3206). The body fat% GRS was created by summing the alleles...

  7. Genetic Correlation between Body Fat Percentage and Cardiorespiratory Fitness Suggests Common Genetic Etiology

    DEFF Research Database (Denmark)

    Schnurr, Theresia M; Gjesing, Anette P; Sandholt, Camilla H

    2016-01-01

    OBJECTIVES: It has long been discussed whether fitness or fatness is a more important determinant of health status. If the same genetic factors that promote body fat percentage (body fat%) are related to cardiorespiratory fitness (CRF), part of the concurrent associations with health outcomes could...... reflect a common genetic origin. In this study we aimed to 1) examine genetic correlations between body fat% and CRF; 2) determine whether CRF can be attributed to a genetic risk score (GRS) based on known body fat% increasing loci; and 3) examine whether the fat mass and obesity associated (FTO) locus...... associates with CRF. METHODS: Genetic correlations based on pedigree information were examined in a family based cohort (n = 230 from 55 families). For the genetic association analyses, we examined two Danish population-based cohorts (ntotal = 3206). The body fat% GRS was created by summing the alleles...

  8. DIGITAL SPECKLE CORRELATION METHOD IMPROVED BY GENETIC ALGORITHM

    Institute of Scientific and Technical Information of China (English)

    MaShaopeng; JillGuanchang

    2003-01-01

    The digital speckle correlation method is an important optical metrology for surface displacement and strain measurement. With this technique, the whole field deformation information can be obtained by tracking the geometric points on the speckle images based on a correlation-matching search technique. However, general search techniques suffer from great computational complexity in the processing of speckle images with large deformation and the large random errors in the processing of images of bad quality. In this paper, an advanced approach based on genetic algorithms (GA) for correlation-matching search is developed. Benefiting from the abilities of global optimum and parallelism searching of GA, this new approach can complete the correlation-matching search with less computational consumption and at high accuracy. Two experimental results from the simulated speckle images have proved the efficiency of the new approach.

  9. A network characteristic that correlates environmental and genetic robustness.

    Directory of Open Access Journals (Sweden)

    Zeina Shreif

    2014-02-01

    Full Text Available As scientific advances in perturbing biological systems and technological advances in data acquisition allow the large-scale quantitative analysis of biological function, the robustness of organisms to both transient environmental stresses and inter-generational genetic changes is a fundamental impediment to the identifiability of mathematical models of these functions. An approach to overcoming this impediment is to reduce the space of possible models to take into account both types of robustness. However, the relationship between the two is still controversial. This work uncovers a network characteristic, transient responsiveness, for a specific function that correlates environmental imperturbability and genetic robustness. We test this characteristic extensively for dynamic networks of ordinary differential equations ranging up to 30 interacting nodes and find that there is a power-law relating environmental imperturbability and genetic robustness that tends to linearity as the number of nodes increases. Using our methods, we refine the classification of known 3-node motifs in terms of their environmental and genetic robustness. We demonstrate our approach by applying it to the chemotaxis signaling network. In particular, we investigate plausible models for the role of CheV protein in biochemical adaptation via a phosphorylation pathway, testing modifications that could improve the robustness of the system to environmental and/or genetic perturbation.

  10. Populus trichocarpa cell wall chemistry and ultrastructure trait variation, genetic control and genetic correlations.

    Science.gov (United States)

    Porth, Ilga; Klápště, Jaroslav; Skyba, Oleksandr; Lai, Ben S K; Geraldes, Armando; Muchero, Wellington; Tuskan, Gerald A; Douglas, Carl J; El-Kassaby, Yousry A; Mansfield, Shawn D

    2013-02-01

    The increasing ecological and economical importance of Populus species and hybrids has stimulated research into the investigation of the natural variation of the species and the estimation of the extent of genetic control over its wood quality traits for traditional forestry activities as well as the emerging bioenergy sector. A realized kinship matrix based on informative, high-density, biallelic single nucleotide polymorphism (SNP) genetic markers was constructed to estimate trait variance components, heritabilities, and genetic and phenotypic correlations. Seventeen traits related to wood chemistry and ultrastructure were examined in 334 9-yr-old Populus trichocarpa grown in a common-garden plot representing populations spanning the latitudinal range 44° to 58.6°. In these individuals, 9342 SNPs that conformed to Hardy-Weinberg expectations were employed to assess the genomic pair-wise kinship to estimate narrow-sense heritabilities and genetic correlations among traits. The range-wide phenotypic variation in all traits was substantial and several trait heritabilities were > 0.6. In total, 61 significant genetic and phenotypic correlations and a network of highly interrelated traits were identified. The high trait variation, the evidence for moderate to high heritabilities and the identification of advantageous trait combinations of industrially important characteristics should aid in providing the foundation for the enhancement of poplar tree breeding strategies for modern industrial use.

  11. Population genetic segmentation of MHC-correlated perfume preferences.

    Science.gov (United States)

    Hämmerli, A; Schweisgut, C; Kaegi, M

    2012-04-01

    It has become difficult to find a matching perfume. An overwhelming number of 300 new perfumes launch each year, and marketing campaigns target pre-defined groups based on gender, age or income rather than on individual preferences. Recent evidence for a genetic basis of perfume preferences, however, could be the starting point for a novel population genetic approach to better match perfumes with people's preferences. With a total of 116 participants genotyped for alleles of three loci of the major histocompatibility complex (MHC), the aim of this study was to test whether common MHC alleles could be used as genetic markers to segment a given population into preference types. Significant deviations from random expectations for a set of 10 common perfume ingredients indicate how such segmentation could be achieved. In addition, preference patterns of participants confronted with images that contained a sexual communication context significantly differed in their ratings for some of the scents compared with participants confronted with images of perfume bottles. This strongly supports the assumption that genetically correlated perfume preferences evolved in the context of sexual communication. The results are discussed in the light of perfume customization. © 2011 The Authors. ICS © 2011 Society of Cosmetic Scientists and the Société Française de Cosmétologie.

  12. Correlation of physical and genetic maps of human chromosome 16

    Energy Technology Data Exchange (ETDEWEB)

    Sutherland, G.R.

    1991-01-01

    This project aimed to divide chromosome 16 into approximately 50 intervals of {approximately}2Mb in size by constructing a series of mouse/human somatic cell hybrids each containing a rearranged chromosome 16. Using these hybrids, DNA probes would be regionally mapped by Southern blot or PCR analysis. Preference would be given to mapping probes which demonstrated polymorphisms for which the CEPH panel of families had been typed. This would allow a correlation of the physical and linkage maps of this chromosome. The aims have been substantially achieved. 49 somatic cell hybrids have been constructed which have allowed definition of 46, and potentially 57, different physical intervals on the chromosome. 164 loci have been fully mapped into these intervals. A correlation of the physical and genetic maps of the chromosome is in an advanced stage of preparation. The somatic cell hybrids constructed have been widely distributed to groups working on chromosome 16 and other genome projects.

  13. Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

    Science.gov (United States)

    McLaughlin, Russell L.; Schijven, Dick; van Rheenen, Wouter; van Eijk, Kristel R.; O'Brien, Margaret; Kahn, René S.; Ophoff, Roel A.; Goris, An; Bradley, Daniel G.; Al-Chalabi, Ammar; van den Berg, Leonard H.; Luykx, Jurjen J.; Hardiman, Orla; Veldink, Jan H.; Shatunov, Aleksey; Dekker, Annelot M.; Diekstra, Frank P.; Pulit, Sara L.; van der Spek, Rick A. A.; van Doormaal, Perry T. C.; Sproviero, William; Jones, Ashley R.; Nicholson, Garth A.; Rowe, Dominic B.; Pamphlett, Roger; Kiernan, Matthew C.; Bauer, Denis; Kahlke, Tim; Williams, Kelly; Eftimov, Filip; Fogh, Isabella; Ticozzi, Nicola; Lin, Kuang; Millecamps, Stéphanie; Salachas, François; Meininger, Vincent; de Carvalho, Mamede; Pinto, Susana; Mora, Jesus S.; Rojas-García, Ricardo; Polak, Meraida; Chandran, Siddharthan; Colville, Shuna; Swingler, Robert; Morrison, Karen E.; Shaw, Pamela J.; Hardy, John; Orrell, Richard W.; Pittman, Alan; Sidle, Katie; Fratta, Pietro; Malaspina, Andrea; Petri, Susanne; Abdulla, Susanna; Drepper, Carsten; Sendtner, Michael; Meyer, Thomas; Wiedau-Pazos, Martina; Lomen-Hoerth, Catherine; van Deerlin, Vivianna M.; Trojanowski, John Q.; Elman, Lauren; McCluskey, Leo; Basak, Nazli; Meitinger, Thomas; Lichtner, Peter; Blagojevic-Radivojkov, Milena; Andres, Christian R.; Maurel, Cindy; Bensimon, Gilbert; Landwehrmeyer, Bernhard; Brice, Alexis; Payan, Christine A. M.; Saker-Delye, Safa; Dürr, Alexandra; Wood, Nicholas; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Rietschel, Marcella; Cichon, Sven; Nöuthen, Markus M.; Amouyel, Philippe; Tzourio, Christophe; Dartigues, Jean-François; Uitterlinden, Andre G.; Rivadeneira, Fernando; Estrada, Karol; Hofman, Albert; Curtis, Charles; van der Kooi, Anneke J.; de Visser, Marianne; Weber, Markus; Shaw, Christopher E.; Smith, Bradley N.; Pansarasa, Orietta; Cereda, Cristina; Del Bo, Roberto; Comi, Giacomo P.; D'Alfonso, Sandra; Bertolin, Cinzia; Sorarù, Gianni; Mazzini, Letizia; Pensato, Viviana; Gellera, Cinzia; Tiloca, Cinzia; Ratti, Antonia; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Arcuti, Simon; Capozzo, Rosa; Zecca, Chiara; Lunetta, Christian; Penco, Silvana; Riva, Nilo; Padovani, Alessandro; Filosto, Massimiliano; Blair, Ian; Leigh, P. Nigel; Casale, Federico; Chio, Adriano; Beghi, Ettore; Pupillo, Elisabetta; Tortelli, Rosanna; Logroscino, Giancarlo; Powell, John; Ludolph, Albert C.; Weishaupt, Jochen H.; Robberecht, Wim; van Damme, Philip; Brown, Robert H.; Glass, Jonathan; Landers, John E.; Andersen, Peter M.; Corcia, Philippe; Vourc'h, Patrick; Silani, Vincenzo; van Es, Michael A.; Pasterkamp, R. Jeroen; Lewis, Cathryn M.; Breen, Gerome; Ripke, Stephan; Neale, Benjamin M.; Corvin, Aiden; Walters, James T. R.; Farh, Kai-How; Holmans, Peter A.; Lee, Phil; Bulik-Sullivan, Brendan; Collier, David A.; Huang, Hailiang; Pers, Tune H.; Agartz, Ingrid; Agerbo, Esben; Albus, Margot; Alexander, Madeline; Amin, Farooq; Bacanu, Silviu A.; Begemann, Martin; Belliveau, Richard A.; Bene, Judit; Bergen, Sarah E.; Bevilacqua, Elizabeth; Bigdeli, Tim B.; Black, Donald W.; Bruggeman, Richard; Buccola, Nancy G.; Buckner, Randy L.; Byerley, William; Cahn, Wiepke; Cai, Guiqing; Campion, Dominique; Cantor, Rita M.; Carr, Vaughan J.; Carrera, Noa; Catts, Stanley V.; Chambert, Kimberley D.; Chan, Raymond C. K.; Chan, Ronald Y. L.; Chen, Eric Y. H.; Cheng, Wei; Cheung, Eric F. C.; Chong, Siow Ann; Cloninger, C. Robert; Cohen, David; Cohen, Nadine; Cormican, Paul; Craddock, Nick; Crowley, James J.; Curtis, David; Davidson, Michael; Davis, Kenneth L.; Degenhardt, Franziska; Del Favero, Jurgen; Demontis, Ditte; Dikeos, Dimitris; Dinan, Timothy; Djurovic, Srdjan; Donohoe, Gary; Drapeau, Elodie; Duan, Jubao; Dudbridge, Frank; Durmishi, Naser; Eichhammer, Peter; Eriksson, Johan; Escott-Price, Valentina; Essioux, Laurent; Fanous, Ayman H.; Farrell, Martilias S.; Frank, Josef; Franke, Lude; Freedman, Robert; Freimer, Nelson B.; Friedl, Marion; Friedman, Joseph I.; Fromer, Menachem; Genovese, Giulio; Georgieva, Lyudmila; Giegling, Ina; Giusti-Rodríguez, Paola; Godard, Stephanie; Goldstein, Jacqueline I.; Golimbet, Vera; Gopal, Srihari; Gratten, Jacob; de Haan, Lieuwe; Hammer, Christian; Hamshere, Marian L.; Hansen, Mark; Hansen, Thomas; Haroutunian, Vahram; Hartmann, Annette M.; Henskens, Frans A.; Herms, Stefan; Hirschhorn, Joel N.; Hoffmann, Per; Hofman, Andrea; Hollegaard, Mads V.; Hougaard, David M.; Ikeda, Masashi; Joa, Inge; Julià, Antonio; Kalaydjieva, Luba; Karachanak-Yankova, Sena; Karjalainen, Juha; Kavanagh, David; Keller, Matthew C.; Kennedy, James L.; Khrunin, Andrey; Kim, Yunjung; Klovins, Janis; Knowles, James A.; Konte, Bettina; Kucinskas, Vaidutis; Kucinskiene, Zita Ausrele; Kuzelova-Ptackova, Hana; Kähler, Anna K.; Laurent, Claudine; Lee, Jimmy; Lee, S. Hong; Legge, Sophie E.; Lerer, Bernard; Li, Miaoxin; Li, Tao; Liang, Kung-Yee; Lieberman, Jeffrey; Limborska, Svetlana; Loughland, Carmel M.; Lubinski, Jan; Lönnqvist, Jouko; Macek, Milan; Magnusson, Patrik K. E.; Maher, Brion S.; Maier, Wolfgang; Mallet, Jacques; Marsal, Sara; Mattheisen, Manuel; Mattingsdal, Morten; McCarley, Robert W.; McDonald, Colm; McIntosh, Andrew M.; Meier, Sandra; Meijer, Carin J.; Melegh, Bela; Melle, Ingrid; Mesholam-Gately, Raquelle I.; Metspalu, Andres; Michie, Patricia T.; Milani, Lili; Milanova, Vihra; Mokrab, Younes; Morris, Derek W.; Mors, Ole; Murphy, Kieran C.; Murray, Robin M.; Myin-Germeys, Inez; Müller-Myhsok, Bertram; Nelis, Mari; Nenadic, Igor; Nertney, Deborah A.; Nestadt, Gerald; Nicodemus, Kristin K.; Nikitina-Zake, Liene; Nisenbaum, Laura; Nordin, Annelie; O'Callaghan, Eadbhard; O'Dushlaine, Colm; O'Neill, F. Anthony; Oh, Sang-Yun; Olincy, Ann; Olsen, Line; van Os, Jim; Pantelis, Christos; Papadimitriou, George N.; Papiol, Sergi; Parkhomenko, Elena; Pato, Michele T.; Paunio, Tiina; Pejovic-Milovancevic, Milica; Perkins, Diana O.; Pietiläinen, Olli; Pimm, Jonathan; Pocklington, Andrew J.; Price, Alkes; Pulver, Ann E.; Purcell, Shaun M.; Quested, Digby; Rasmussen, Henrik B.; Reichenberg, Abraham; Reimers, Mark A.; Richards, Alexander L.; Roffman, Joshua L.; Roussos, Panos; Ruderfer, Douglas M.; Salomaa, Veikko; Sanders, Alan R.; Schall, Ulrich; Schubert, Christian R.; Schulze, Thomas G.; Schwab, Sibylle G.; Scolnick, Edward M.; Scott, Rodney J.; Seidman, Larry J.; Shi, Jianxin; Sigurdsson, Engilbert; Silagadze, Teimuraz; Silverman, Jeremy M.; Sim, Kang; Slominsky, Petr; Smoller, Jordan W.; So, Hon-Cheong; Spencer, Chris C. A.; Stahl, Eli A.; Stefansson, Hreinn; Steinberg, Stacy; Stogmann, Elisabeth; Straub, Richard E.; Strengman, Eric; Strohmaier, Jana; Stroup, T. Scott; Subramaniam, Mythily; Suvisaari, Jaana; Svrakic, Dragan M.; Szatkiewicz, Jin P.; Söderman, Erik; Thirumalai, Srinivas; Toncheva, Draga; Tosato, Sarah; Veijola, Juha; Waddington, John; Walsh, Dermot; Wang, Dai; Wang, Qiang; Webb, Bradley T.; Weiser, Mark; Wildenauer, Dieter B.; Williams, Nigel M.; Williams, Stephanie; Witt, Stephanie H.; Wolen, Aaron R.; Wong, Emily H. M.; Wormley, Brandon K.; Xi, Hualin Simon; Zai, Clement C.; Zheng, Xuebin; Zimprich, Fritz; Wray, Naomi R.; Stefansson, Kari; Visscher, Peter M.; Adolfsson, Rolf; Andreassen, Ole A.; Blackwood, Douglas H. R.; Bramon, Elvira; Buxbaum, Joseph D.; Børglum, Anders D.; Darvasi, Ariel; Domenici, Enrico; Ehrenreich, Hannelore; Esko, Tõnu; Gejman, Pablo V.; Gill, Michael; Gurling, Hugh; Hultman, Christina M.; Iwata, Nakao; Jablensky, Assen V.; Jönsson, Erik G.; Kendler, Kenneth S.; Kirov, George; Knight, Jo; Lencz, Todd; Levinson, Douglas F.; Li, Qingqin S.; Liu, Jianjun; Malhotra, Anil K.; McCarroll, Steven A.; McQuillin, Andrew; Moran, Jennifer L.; Mortensen, Preben B.; Mowry, Bryan J.; Owen, Michael J.; Palotie, Aarno; Pato, Carlos N.; Petryshen, Tracey L.; Posthuma, Danielle; Riley, Brien P.; Rujescu, Dan; Sham, Pak C.; Sklar, Pamela; St Clair, David; Weinberger, Daniel R.; Wendland, Jens R.; Werge, Thomas; Daly, Mark J.; Sullivan, Patrick F.; O'Donovan, Michael C.

    2017-03-01

    We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the genetic relationship between ALS and schizophrenia using genome-wide association study data from over 100,000 unique individuals. Using linkage disequilibrium score regression, we estimate the genetic correlation between ALS and schizophrenia to be 14.3% (7.05-21.6 P=1 × 10-4) with schizophrenia polygenic risk scores explaining up to 0.12% of the variance in ALS (P=8.4 × 10-7). A modest increase in comorbidity of ALS and schizophrenia is expected given these findings (odds ratio 1.08-1.26) but this would require very large studies to observe epidemiologically. We identify five potential novel ALS-associated loci using conditional false discovery rate analysis. It is likely that shared neurobiological mechanisms between these two disorders will engender novel hypotheses in future preclinical and clinical studies.

  14. Estimates of genetic correlations and correlated responses to selection in cashew (Anacardium occidentale L.

    Directory of Open Access Journals (Sweden)

    Diógenes Manoel Pedroza de Azevedo

    1998-09-01

    Full Text Available The present study estimates variances and genetic and phenotypic correlations for five traits in 27 progenies of cashew trees (Anacardium occidentale L.. Data were obtained from a trial conducted in 1992 at Pacajus, Ceará, experimental station of Embrapa Agroindústria Tropical. The characters studied were plant height (PH, North-South and East-West canopy spreads (NSS, EWS, and primary and secondary branch numbers (PBN, SBN. All genetic and phenotypic correlations presented positive and significant values. Selection to increase or decrease the average of any one of the five characteristics of cashew plants in the progenies studied affected the average of the others. The 16-month-old canopy spread can be predicted from NSS or EWS since correlations between them were high. Correlations between PH and SBN were low, indicating that there is a good possibility of obtaining smaller plants without causing drastic reductions in SBN. PH and SBN showed, respectively, the lowest and highest genetic variance estimates relative to the corresponding population means.Neste trabalho são estimadas variâncias, correlações genéticas e fenotípicas e respostas correlacionadas, envolvendo cinco caracteres em 27 progênies de cajueiro (Anacardium occidentale L.. Os dados foram obtidos em Pacajus-CE, num ensaio conduzido no Campo Experimental da Embrapa Agroindústria Tropical, em l992. Os caracteres estudados foram altura de planta (PH, envergaduras norte-sul (NSS e leste-oeste (EWS e número de ramos primários (PBN e secundários (SBN. Todas as correlacões genéticas e fenotípicas obtidas foram positivas e significativas. A seleção para aumentar ou reduzir a média de qualquer um dos cinco caracteres estudados nas progênies de cajueiro afetou indiretamente a média dos outros quatro caracteres. A envergadura da copa aos 16 meses pode ser representada por NSS ou EWS, tendo em vista que a correlação entre elas foi elevada. As correlações envolvendo PH

  15. Genetic Correlation between Body Fat Percentage and Cardiorespiratory Fitness Suggests Common Genetic Etiology

    DEFF Research Database (Denmark)

    Schnurr, Theresia M; Gjesing, Anette P; Sandholt, Camilla H

    2016-01-01

    reflect a common genetic origin. In this study we aimed to 1) examine genetic correlations between body fat% and CRF; 2) determine whether CRF can be attributed to a genetic risk score (GRS) based on known body fat% increasing loci; and 3) examine whether the fat mass and obesity associated (FTO) locus...... of twelve independent risk variants known to associate with body fat%. We assessed CRF as maximal oxygen uptake expressed in millilitres of oxygen uptake per kg of body mass (VO2 max), per kg fat-free mass (VO2 maxFFM ), or per kg fat mass (VO2 maxFM ). All analyses were adjusted for age and sex, and when...... was associated with a 0.42 mL/kg/min unit decrease in VO2 max per allele (p = 0.0092, age and sex adjusted). Both associations were abolished after additional adjustment for body fat %. The fat% increasing GRS and FTO risk allele were associated with decreased VO2 maxFM but not with VO2 maxFFM . Conclusions Our...

  16. Genetic and neural correlates of romantic relationship satisfaction.

    Science.gov (United States)

    Luo, Siyang; Yu, Dian; Han, Shihui

    2016-02-01

    Romantic relationship satisfaction (RRS) is important for mental/physical health but varies greatly across individuals. To date, we have known little about the biological (genetic and neural) correlates of RRS. We tested the hypothesis that the serotonin transporter promoter polymorphism (5-HTTLPR), the promoter region of the gene SLC6A4 that codes for the serotonin transporter protein, is associated with individuals' RRS. Moreover, we investigated neural activity that mediates 5-HTTLPR association with RRS by scanning short-short (s/s) and long-long (l/l) homozygotes of 5-HTTLPR, using functional MRI, during a Cyberball game that resulted in social exclusion. l/l compared with s/s allele carriers reported higher RRS but lower social interaction anxiety. l/l compared with s/s carriers showed stronger activity in the right ventral prefrontal cortex (RVPFC) and stronger functional connectivity between the dorsal and rostral ACC when being excluded from the Cyberball game. Moreover, the 5-HTTLPR association with RRS was mediated by the RVPFC activity and the 5-HTTLPR association with social interaction anxiety was mediated by both the dorsal-rostral ACC connectivity and RVPFC activity. Our findings suggest that 5-HTTLPR is associated with satisfaction of one's own romantic relationships and this association is mediated by the neural activity in the brain region related to emotion regulation.

  17. Ullrich Congenital Muscular Dystrophy (UCMD: Clinical and Genetic Correlations

    Directory of Open Access Journals (Sweden)

    Bita BOZORGMEHR

    2013-08-01

    Full Text Available How to Cite This Article: Bozorgmehr B, Kariminejad A, Nafissi Sh, Jebelli B, Andoni U, Gartioux C, Ledeuil C, Allamand Y, Richard P, Kariminejad MH. Ullrich Congenital Muscular Dystrophy (UCMD:Clinical and Genetic Correlations. Iran J Child Neurol. 2013 Summer; 7(3: 15-22.  Objective:Ullrich congenital muscular dystrophy (UCMD corresponds to the severe end of the clinical spectrum of neuromuscular disorders caused by mutations in the genes encoding collagen VI (COL VI. We studied four unrelated families with six affected children that had typical UCMD with dominant and recessive inheritance.Materials & MethodsFour unrelated Iranian families with six affected children with typical UCMD were analyzed for COLVI secretion in skin fibroblast culture and the secretion of COLVI in skin fibroblast culture using quantitative RT–PCR (Q-RT-PCR, and mutation identification was performed by sequencing of complementary DNA.ResultsCOL VI secretion was altered in all studied fibroblast cultures. Two affected sibs carried a homozygous nonsense mutation in exon 12 of COL6A2, while another patient had a large heterozygous deletion in exon 5-8 of COL6A2. The two other affected sibs had homozygote mutation in exon 24 of COL6A2, and the last one was homozygote in COL6A1.ConclusionIn this study, we found out variability in clinical findings and genetic inheritance among UCMD patients, so that the patient with complete absence of COLVI was severely affected and had a large heterozygous deletion in COL6A2. In contrast, the patients with homozygous deletion had mild to moderate decrease in the secretion of COL VI and were mildly tomoderately affected.References1. Voit T. Congenital Muscular Dystrophies Brain Dev 1998;20(2: 65-74.2. Ullrich OZ Ges. Scleroatonic Muscular Dystrophy. NeurolPsychiatr 1930;126:171-201.3. Ullrich O. Monatsschr. Kinderheilkd 1930;47:502-10.4. Mercuri E, Yuva Y, Brown SC, Brockington M, Kinali M, Jungbluth H, et al. Collagen VI involvement in

  18. Genetic correlation between the pre-adult developmental period and locomotor activity rhythm in Drosophila melanogaster.

    Science.gov (United States)

    Takahashi, K H; Teramura, K; Muraoka, S; Okada, Y; Miyatake, T

    2013-04-01

    Biological clocks regulate various behavioural and physiological traits; slower circadian clocks are expected to slow down the development, suggesting a potential genetic correlation between the developmental period and circadian rhythm. However, a correlation between natural genetic variations in the developmental period and circadian rhythm has only been found in Bactrocera cucurbitae. The number of genetic factors that contribute to this genetic correlation is largely unclear. In this study, to examine whether natural genetic variations in the developmental period and circadian rhythm are correlated in Drosophila melanogaster, we performed an artificial disruptive selection on the developmental periods using wild-type strains and evaluated the circadian rhythms of the selected lines. To investigate whether multiple genetic factors mediate the genetic correlation, we reanalyzed previously published genome-wide deficiency screening data based on DrosDel isogenic deficiency strains and evaluated the effect of 438 genomic deficiencies on the developmental periods. We then randomly selected 32 genomic deficiencies with significant effects on the developmental periods and tested their effects on circadian rhythms. As a result, we found a significant response to selection for longer developmental periods and their correlated effects on circadian rhythms of the selected lines. We also found that 18 genomic regions had significant effects on the developmental periods and circadian rhythms, indicating their potential for mediating the genetic correlation between the developmental period and circadian rhythm. The novel findings of our study might lead to a better understanding of how this correlation is regulated genetically in broader taxonomic groups.

  19. Analysis of embryo, cytoplasmic and maternal genetic correlations for seven essential amino acids in rapeseed meal (Brassica napus L.)

    Indian Academy of Sciences (India)

    Guo Lin Chen; Jian Guo Wu; Murali-Tottekkaad Variath; Zhong Wei Yang; Chun Hai Shi

    2011-04-01

    Genetic correlations of nutrient quality traits including lysine, methionine, leucine, isoleucine, phenylalanine, valine and threonine contents in rapeseed meal were analysed by the genetic model for quantitative traits of diploid plants using a diallel design with nine parents of Brassica napus L. These results indicated that the genetic correlations of embryo, cytoplasm and/or maternal plant havemade different contribution to total genetic correlations of most pairwise nutrient quality traits. The genetic correlations among the amino acids in rapeseed meal were simultaneously controlled by genetic main correlations and genotype × environment (GE) interaction correlations, especially for the maternal dominance correlations. Most components of genetic main correlations and GE interaction correlations for the pairwise traits studied were significantly positive. Some of the pairwise traits had negative genetic correlations, especially between valine and other amino acid contents. Indirect selection for improving the quality traits of rapeseed meal could be expected in rape breeding according to the magnitude and direction of genetic correlation components.

  20. Correlation between genetic and geographic structure in Europe

    DEFF Research Database (Denmark)

    Lao, Oscar; Lu, Timothy T; Nothnagel, Michael;

    2008-01-01

    Understanding the genetic structure of the European population is important, not only from a historical perspective, but also for the appropriate design and interpretation of genetic epidemiological studies. Previous population genetic analyses with autosomal markers in Europe either had a wide g...... Europe. By including the widely used CEPH from Utah (CEU) samples into our analysis, we could show that these individuals represent northern and western Europeans reasonably well, thereby confirming their assumed regional ancestry....

  1. Environmental influence on the genetic correlations between life-history traits in Caenorhabditis elegans

    NARCIS (Netherlands)

    Gutteling, E.W.; Doroszuk, A.; Riksen, J.A.G.; Prokop, Z.; Reszka, J.; Kammenga, J.E.

    2007-01-01

    Empirical evidence is mounting to suggesting that genetic correlations between life-history traits are environment specific. However, detailed knowledge about the loci underlying genetic correlations in different environments is scant. Here, we studied the influence of temperature (12°C and 24°C) on

  2. Environmental influence on the genetic correlations between life-history traits in Caenorhabditis elegans

    NARCIS (Netherlands)

    Gutteling, E.W.; Doroszuk, A.; Riksen, J.A.G.; Prokop, Z.; Reszka, J.; Kammenga, J.E.

    2007-01-01

    Empirical evidence is mounting to suggesting that genetic correlations between life-history traits are environment specific. However, detailed knowledge about the loci underlying genetic correlations in different environments is scant. Here, we studied the influence of temperature (12°C and 24°C) on

  3. Muscle MRI in pediatrics: clinical, pathological and genetic correlation

    Energy Technology Data Exchange (ETDEWEB)

    Cejas, Claudia P.; Serra, Maria M.; Galvez, David F.G. [Foundation for Neurological Research Dr. Raul Carrea (FLENI), Radiology Department, Buenos Aires (Argentina); Cavassa, Eliana A.; Vazquez, Gabriel A.; Massaro, Mario E.L.; Schteinschneider, Angeles V. [Foundation for Neurological Research Dr. Raul Carrea (FLENI), Department of Neuropediatrics, Buenos Aires (Argentina); Taratuto, Ana L. [Foundation for Neurological Research Dr. Raul Carrea (FLENI), Neuropathology Consultant, Buenos Aires (Argentina)

    2017-05-15

    Pediatric myopathies comprise a very heterogeneous group of disorders that may develop at different ages and affect different muscle groups. Its diagnosis is sometimes difficult and must be confirmed by muscle biopsy and/or genetic analysis. In recent years, muscle involvement patterns observed on MRI have become a valuable tool, aiding clinical diagnosis and enriching pathological and genetic assessments. We selected eight myopathy cases from our institutional database in which the pattern of muscle involvement observed on MRI was almost pathognomonic and could therefore contribute to establishing diagnosis. Muscle biopsy, genetic diagnosis or both confirmed all cases. (orig.)

  4. Genetic correlations among facets of type A behavior and personality.

    Science.gov (United States)

    Johnson, Andrew M; Schermer, Julie Aitken; Vernon, Philip A; Jang, Kerry L

    2012-08-01

    The purpose of this study was to examine the phenotypic, genetic, and environmental relationships between multiple dimensions of Type A behavior and personality. Adult twins (N=247 pairs) completed a self-report personality measure and a work style questionnaire that measured six facets of Type A behavior: impatience, anger, work involvement, time urgency, job dissatisfaction, and competitiveness. Univariate results suggest that only the job dissatisfaction facet of Type A behavior was explained by non-genetic (environmental) factors. Multivariate results suggest that all of the genetically determined facets of Type A behavior show some correspondence with at least one of the personality factors found in the study, suggesting that some of the phenotypic (observed) relationships could be due to common genetic factors.

  5. The genetic correlation between height and IQ: shared genes or assortative mating?

    Directory of Open Access Journals (Sweden)

    Matthew C Keller

    2013-04-01

    Full Text Available Traits that are attractive to the opposite sex are often positively correlated when scaled such that scores increase with attractiveness, and this correlation typically has a genetic component. Such traits can be genetically correlated due to genes that affect both traits ("pleiotropy" and/or because assortative mating causes statistical correlations to develop between selected alleles across the traits ("gametic phase disequilibrium". In this study, we modeled the covariation between monozygotic and dizygotic twins, their siblings, and their parents (total N = 7,905 to elucidate the nature of the correlation between two potentially sexually selected traits in humans: height and IQ. Unlike previous designs used to investigate the nature of the height-IQ correlation, the present design accounts for the effects of assortative mating and provides much less biased estimates of additive genetic, non-additive genetic, and shared environmental influences. Both traits were highly heritable, although there was greater evidence for non-additive genetic effects in males. After accounting for assortative mating, the correlation between height and IQ was found to be almost entirely genetic in nature. Model fits indicate that both pleiotropy and assortative mating contribute significantly and about equally to this genetic correlation.

  6. The Genetic Correlation between Height and IQ: Shared Genes or Assortative Mating?

    Science.gov (United States)

    Keller, Matthew C.; Garver-Apgar, Christine E.; Wright, Margaret J.; Martin, Nicholas G.; Corley, Robin P.; Stallings, Michael C.; Hewitt, John K.; Zietsch, Brendan P.

    2013-01-01

    Traits that are attractive to the opposite sex are often positively correlated when scaled such that scores increase with attractiveness, and this correlation typically has a genetic component. Such traits can be genetically correlated due to genes that affect both traits (“pleiotropy”) and/or because assortative mating causes statistical correlations to develop between selected alleles across the traits (“gametic phase disequilibrium”). In this study, we modeled the covariation between monozygotic and dizygotic twins, their siblings, and their parents (total N = 7,905) to elucidate the nature of the correlation between two potentially sexually selected traits in humans: height and IQ. Unlike previous designs used to investigate the nature of the height–IQ correlation, the present design accounts for the effects of assortative mating and provides much less biased estimates of additive genetic, non-additive genetic, and shared environmental influences. Both traits were highly heritable, although there was greater evidence for non-additive genetic effects in males. After accounting for assortative mating, the correlation between height and IQ was found to be almost entirely genetic in nature. Model fits indicate that both pleiotropy and assortative mating contribute significantly and about equally to this genetic correlation. PMID:23593038

  7. Correlated responses to clonal selection in populations of Daphnia pulicaria: mechanisms of genetic correlation and the creative power of sex.

    Science.gov (United States)

    Dudycha, Jeffry L; Snoke-Smith, Margaret; Alía, Ricardo

    2013-02-01

    Genetic correlations among traits alter evolutionary trajectories due to indirect selection. Pleiotropy, chance linkage, and selection can all lead to genetic correlations, but have different consequences for phenotypic evolution. We sought to assess the mechanisms contributing to correlations with size at maturity in the cyclic parthenogen Daphnia pulicaria. We selected on size in each of four populations that differ in the frequency of sex, and evaluated correlated responses in a life table. Size at advanced adulthood, reproductive output, and adult growth rate clearly showed greater responses in high-sex populations, with a similar pattern in neonate size and r. This pattern is expected only when trait correlations are favored by selection and the frequency of sex favors the creation and demographic expansion of highly fit clones. Juvenile growth and age at maturity did not diverge consistently. The inter-clutch interval appeared to respond more strongly in low-sex populations, but this was not statistically significant. Our data support the hypothesis that correlated selection is the strongest driver of genetic correlations, and suggest that in organisms with both sexual and asexual reproduction, adaptation can be enhanced by recombination.

  8. Estimating genetic correlations based on phenotypic data: a simulation-based method

    Indian Academy of Sciences (India)

    Elias Zintzaras

    2011-04-01

    Knowledge of genetic correlations is essential to understand the joint evolution of traits through correlated responses to selection, a difficult and seldom, very precise task even with easy-to-breed species. Here, a simulation-based method to estimate genetic correlations and genetic covariances that relies only on phenotypic measurements is proposed. The method does not require any degree of relatedness in the sampled individuals. Extensive numerical results suggest that the propose method may provide relatively efficient estimates regardless of sample sizes and contributions from common environmental effects.

  9. Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

    NARCIS (Netherlands)

    R.L. Mclaughlin (Russell); D. Schijven (Dick); W. van Rheenen (Wouter); K.R. van Eijk (Kristel); M. O'Brien (Margaret); R. Kahn; R.A. Ophoff (Roel); A. Goris (An); D.G. Bradley (Daniel G.); A. Al-Chalabi (Ammar); L.H. van den Berg (Leonard); J.J. Luykx (Jurjen J.); O. Hardiman (Orla); J.H. Veldink (Jan)

    2017-01-01

    textabstractWe have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the genetic relationship between ALS and schizophrenia using genome-w

  10. The genetic correlation between cigarette smoking and alcohol drinking among Chinese adult male twins: an ordinal bivariate genetic analysis.

    Science.gov (United States)

    Zhang, Ting; Gao, Wenjing; Cao, Weihua; Zhan, Siyan; Lv, Jun; Pang, Zengchang; Wang, Shaojie; Chen, Rongfu; Hu, Yonghua; Li, Liming

    2012-08-01

    Though multiple policies have been implemented, the cigarette control in China is still facing a great challenge. At the same time, alcohol drinking has increasingly become a public health problem. Considering cigarette smoking and alcohol drinking often co-occur, a few studies tested the covariance of these phenotypes. However, the genetic and environmental correlation between them among Chinese population has not been determined. The main aim of this study is to fill this gap. From the Chinese National Twin Registry, we obtained the data on cigarette smoking and alcohol drinking behaviors. The ordinal bivariate genetic analysis was performed to fit the categorical variables. After identifying the best decomposition among the Cholesky, common, and independent pathway model, we established the most parsimonious submodel. The correlation between current tobacco and alcohol use could be explained by Cholesky model. The shared environmental variances for both phenotypes were dropped to construct the most parsimonious submodel. Furthermore, the most parsimonious submodel showed a moderate correlation (0.32, 95%CI=0.17-0.46) between the genetic components and a negligible non-shared environmental correlation. As the first bivariate genetic analysis on current tobacco smoking and current alcohol drinking in China, this study suggested a common genetic vulnerability to tobacco and alcohol use in male twins. Further studies should be carried out to track the pertinent genes that are related to the comorbidity of smoking and drinking in Chinese population. Another urgent need is to recognize the behavior-specific environmental risk factors.

  11. The intergenerational correlation in weight: How genetic resemblance reveals the social role of families*

    Science.gov (United States)

    Martin, Molly A.

    2009-01-01

    According to behavioral genetics research, the intergenerational correlation in weight derives solely from shared genetic predispositions, but complete genetic determinism contradicts the scientific consensus that social and behavioral change underlies the modern obesity epidemic. To address this conundrum, this article utilizes sibling data from the National Longitudinal Study of Adolescent Health and extends structural equation sibling models to incorporate siblings’ genetic relationships to explore the role of families’ social characteristics for adolescent weight. The article is the first to demonstrate that the association between parents’ obesity and adolescent weight is both social and genetic. Furthermore, by incorporating genetic information, the shared and social origins of the correlation between inactivity and weight are better revealed. PMID:19569401

  12. Correlation of M-type phospholipase A2 receptor genetic polymorphism with idiopathic membranous nephropathy

    Institute of Scientific and Technical Information of China (English)

    周广宇

    2013-01-01

    Objective To investigate the correlation of M-typephos pholipase A2receptor(PLA2R) genetic polymorphism in two single nucleotide polymorphisms(SNPs) with idiopathic membranous nephropathy(IMN) of Chinese

  13. Intralocus tactical conflict: genetic correlations between fighters and sneakers of the dung beetle Onthophagus taurus.

    Science.gov (United States)

    Buzatto, B A; Kotiaho, J S; Tomkins, J L; Simmons, L W

    2015-03-01

    Males and females differ in their phenotypic optima for many traits, and as the majority of genes are expressed in both sexes, some alleles can be beneficial to one sex but harmful to the other (intralocus sexual conflict; ISC). ISC theory has recently been extended to intrasexual dimorphisms, where certain alleles may have opposite effects on the fitness of males of different morphs that employ alternative reproductive tactics (intralocus tactical conflict; ITC). Here, we use a half-sib breeding design to investigate the genetic basis for ISC and ITC in the dung beetle Onthophagus taurus. We found positive heritabilities and intersexual genetic correlations for almost all traits investigated. Next, we calculated the intrasexual genetic correlation between males of different morphs for horn length, a sexually selected trait, and compared it to intrasexual correlations for naturally selected traits in both sexes. Intrasexual genetic correlations did not differ significantly between the sexes or between naturally and sexually selected traits, failing to support the hypothesis that horns present a reduction of intrasexual genetic correlations due to ITC. We discuss the implications for the idea of developmental reprogramming between male morphs and emphasize the importance of genetic correlations as constraints for the evolution of dimorphisms.

  14. Genetic and Environmental Basis in Phenotype Correlation Between Physical Function and Cognition in Aging Chinese Twins

    DEFF Research Database (Denmark)

    Xu, Chunsheng; Zhang, Dongfeng; Tian, Xiaocao

    2017-01-01

    Although the correlation between cognition and physical function has been well studied in the general population, the genetic and environmental nature of the correlation has been rarely investigated. We conducted a classical twin analysis on cognitive and physical function, including forced...... expiratory volume in one second (FEV1), forced vital capacity (FVC), handgrip strength, five-times-sit-to-stand test (FTSST), near visual acuity, and number of teeth lost in 379 complete twin pairs. Bivariate twin models were fitted to estimate the genetic and environmental correlation between physical...... and cognitive function. Bivariate analysis showed mildly positively genetic correlations between cognition and FEV1, r G = 0.23 [95% CI: 0.03, 0.62], as well as FVC, r G = 0.35 [95% CI: 0.06, 1.00]. We found that FTSST and cognition presented very high common environmental correlation, r C = -1.00 [95% CI: -1...

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

    Science.gov (United States)

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

    2012-06-01

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

  16. The intersexual genetic correlation for lifetime fitness in the wild and its implications for sexual selection.

    Directory of Open Access Journals (Sweden)

    Jon E Brommer

    Full Text Available BACKGROUND: The genetic benefits of mate choice are limited by the degree to which male and female fitness are genetically correlated. If the intersexual correlation for fitness is small or negative, choosing a highly fit mate does not necessarily result in high fitness offspring. METHODOLOGY/PRINCIPAL FINDING: Using an animal-model approach on data from a pedigreed population of over 7,000 collared flycatchers (Ficedula albicollis, we estimate the intersexual genetic correlation in Lifetime Reproductive Success (LRS in a natural population to be negative in sign (-0.85+/-0.6. Simulations show this estimate to be robust in sign to the effects of extra-pair parentage. The genetic benefits in this population are further limited by a low level of genetic variation for fitness in males. CONCLUSIONS/SIGNIFICANCE: The potential for indirect sexual selection is nullified by sexual antagonistic fitness effects in this natural population. Our findings and the scarce evidence from other studies suggest that the intersexual genetic correlation for lifetime fitness may be very low in nature. We argue that this form of conflict can, in general, both constrain and maintain sexual selection, depending on the sex-specific additive genetic variances in lifetime fitness.

  17. Genetic code correlations - Amino acids and their anticodon nucleotides

    Science.gov (United States)

    Weber, A. L.; Lacey, J. C., Jr.

    1978-01-01

    The data here show direct correlations between both the hydrophobicity and the hydrophilicity of the homocodonic amino acids and their anticodon nucleotides. While the differences between properties of uracil and cytosine derivatives are small, further data show that uracil has an affinity for charged species. Although these data suggest that molecular relationships between amino acids and anticodons were responsible for the origin of the code, it is not clear what the mechanism of the origin might have been.

  18. GENETIC VARIABILITY AND CORRELATION STUDIES IN BRINJAL (SOLANUM MELONGENA L.)

    OpenAIRE

    Bhukya Ravi Nayak; P. K. Nagre

    2013-01-01

    The present investigation was conducted at Department of Horticulture, Horticulture Garden, Dr. PDKV, Akola (M.S.), during kharif 2012-13. The experimental material comprised of 20 genotypes along with one check of brinjal and the experimental was laid out in randomized block design with three replications. Variability studies revealed that highly significant differences were recorded among the varieties for all characters. Correlation and path analysis revealed that fruit length, diameter, w...

  19. Genetic and Environmental Basis in Phenotype Correlation Between Physical Function and Cognition in Aging Chinese Twins

    DEFF Research Database (Denmark)

    Xu, Chunsheng; Zhang, Dongfeng; Tian, Xiaocao

    2017-01-01

    expiratory volume in one second (FEV1), forced vital capacity (FVC), handgrip strength, five-times-sit-to-stand test (FTSST), near visual acuity, and number of teeth lost in 379 complete twin pairs. Bivariate twin models were fitted to estimate the genetic and environmental correlation between physical......Although the correlation between cognition and physical function has been well studied in the general population, the genetic and environmental nature of the correlation has been rarely investigated. We conducted a classical twin analysis on cognitive and physical function, including forced...

  20. The quantitative genetics of incipient speciation: heritability and genetic correlations of skeletal traits in populations of diverging Favia fragum ecomorphs.

    Science.gov (United States)

    Carlon, David B; Budd, Ann F; Lippé, Catherine; Andrew, Rose L

    2011-12-01

    Recent speciation events provide potential opportunities to understand the microevolution of reproductive isolation. We used a marker-based approach and a common garden to estimate the additive genetic variation in skeletal traits in a system of two ecomorphs within the coral species Favia fragum: a Tall ecomorph that is a seagrass specialist, and a Short ecomorph that is most abundant on coral reefs. Considering both ecomorphs, we found significant narrow-sense heritability (h(2) ) in a suite of measurements that define corallite architecture, and could partition additive and nonadditive variation for some traits. We found positive genetic correlations for homologous height and length measurements among different types of vertical plates (costosepta) within corallites, but negative correlations between height and length within, as well as between costosepta. Within ecomorphs, h(2) estimates were generally lower, compared to the combined ecomorph analysis. Marker-based estimates of h(2) were comparable to broad-sense heritability (H) obtained from parent-offspring regressions in a common garden for most traits, and similar genetic co-variance matrices for common garden and wild populations may indicate relatively small G × E interactions. The patterns of additive genetic variation in this system invite hypotheses of divergent selection or genetic drift as potential evolutionary drivers of reproductive isolation.

  1. Genetic variability and correlation studies in sunflower (Helianthus annuus L.

    Directory of Open Access Journals (Sweden)

    Sheshaiah and Shankergoud I.

    2015-06-01

    Full Text Available The present study was conducted in order to investigate genetic variability and to understand the relationship and contribution of characters towards total dry matter and root length. The investigation was carried out at Main Agricultural Research Station, UAS, Raichur during Rabi 2012-13, 32 genotypes were evaluated in RBD fashion under root structures. At flowering stage all morphological and root characters were scored. The total dry matter content was assessed after drying the root, stem, leaf, petiole and flower of the plant at 70 0C in an oven.. High GCV coupled with high PCV recorded for most of the characters except stem girth, SPAD reading and number of leaves, indicating more variability for these traits and are less influenced by the environment. High heritability coupled with high GAM reported for all the traits under study suggested for the greater effectiveness for selection and improvement expected for these traits in future generations. The total dry matter and root length had very highly significant positive association with plant height, root volume, fresh root weight, dry root weight, fresh stem weight, dry stem weight, fresh leaf weight and dry leaf weight indicating the importance of root characters in determining the moisture stress tolerance and putforthing the total dry matter content of the plant.

  2. Genetic variation of loci potentially under selection confounds species-genetic diversity correlations in a fragmented habitat.

    Science.gov (United States)

    Bertin, Angeline; Gouin, Nicolas; Baumel, Alex; Gianoli, Ernesto; Serratosa, Juan; Osorio, Rodomiro; Manel, Stephanie

    2017-01-01

    Positive species-genetic diversity correlations (SGDCs) are often thought to result from the parallel influence of neutral processes on genetic and species diversity. Yet, confounding effects of non-neutral mechanisms have not been explored. Here, we investigate the impact of non-neutral genetic diversity on SGDCs in high Andean wetlands. We compare correlations between plant species diversity and genetic diversity (GD) calculated with and without loci potentially under selection (outlier loci). The study system includes 2188 specimens from five species (three common aquatic macroinvertebrate and two dominant plant species) that were genotyped for 396 amplified fragment length polymorphism loci. We also appraise the importance of neutral processes on SGDCs by investigating the influence of habitat fragmentation features. Significant positive SGDCs were detected for all five species (mean SGDC = 0.52 ± 0.05). While only a few outlier loci were detected in each species, they resulted in significant decreases in GD and in SGDCs. This supports the hypothesis that neutral processes drive species-genetic diversity relationships in high Andean wetlands. Unexpectedly, the effects on genetic diversity GD of the habitat fragmentation characteristics in this study increased with the presence of outlier loci in two species. Overall, our results reveal pitfalls in using habitat features to infer processes driving SGDCs and show that a few loci potentially under selection are enough to cause a significant downward bias in SGDC. Investigating confounding effects of outlier loci thus represents a useful approach to evidence the contribution of neutral processes on species-genetic diversity relationships. © 2016 John Wiley & Sons Ltd.

  3. Joint modeling of genetically correlated diseases and functional annotations increases accuracy of polygenic risk prediction.

    Directory of Open Access Journals (Sweden)

    Yiming Hu

    2017-06-01

    Full Text Available Accurate prediction of disease risk based on genetic factors is an important goal in human genetics research and precision medicine. Advanced prediction models will lead to more effective disease prevention and treatment strategies. Despite the identification of thousands of disease-associated genetic variants through genome-wide association studies (GWAS in the past decade, accuracy of genetic risk prediction remains moderate for most diseases, which is largely due to the challenges in both identifying all the functionally relevant variants and accurately estimating their effect sizes. In this work, we introduce PleioPred, a principled framework that leverages pleiotropy and functional annotations in genetic risk prediction for complex diseases. PleioPred uses GWAS summary statistics as its input, and jointly models multiple genetically correlated diseases and a variety of external information including linkage disequilibrium and diverse functional annotations to increase the accuracy of risk prediction. Through comprehensive simulations and real data analyses on Crohn's disease, celiac disease and type-II diabetes, we demonstrate that our approach can substantially increase the accuracy of polygenic risk prediction and risk population stratification, i.e. PleioPred can significantly better separate type-II diabetes patients with early and late onset ages, illustrating its potential clinical application. Furthermore, we show that the increment in prediction accuracy is significantly correlated with the genetic correlation between the predicted and jointly modeled diseases.

  4. Impacts of genetic correlation on the independent evolution of body mass and skeletal size in mammals.

    Science.gov (United States)

    Marchini, Marta; Sparrow, Leah M; Cosman, Miranda N; Dowhanik, Alexandra; Krueger, Carsten B; Hallgrimsson, Benedikt; Rolian, Campbell

    2014-12-14

    Mammals show a predictable scaling relationship between limb bone size and body mass. This relationship has a genetic basis which likely evolved via natural selection, but it is unclear how much the genetic correlation between these traits in turn impacts their capacity to evolve independently. We selectively bred laboratory mice for increases in tibia length independent of body mass, to test the hypothesis that a genetic correlation with body mass constrains evolutionary change in tibia length. Over 14 generations, we produced mean tibia length increases of 9-13%, while mean body mass was unchanged, in selectively bred mice and random-bred controls. Using evolutionary scenarios with different selection and quantitative genetic parameters, we also found that this genetic correlation impedes the rate of evolutionary change in both traits, slowing increases in tibia length while preventing decreases in body mass, despite the latter's negative effect on fitness. Overall, results from this ongoing selection experiment suggest that parallel evolution of relatively longer hind limbs among rodents, for example in the context of strong competition for resources and niche partitioning in heterogeneous environments, may have occurred very rapidly on geological timescales, in spite of a moderately strong genetic correlation between tibia length and body mass.

  5. Trait Associations across Evolutionary Time within a Drosophila Phylogeny: Correlated Selection or Genetic Constraint?

    Science.gov (United States)

    Kellermann, Vanessa; Overgaard, Johannes; Loeschcke, Volker; Kristensen, Torsten Nygaard; Hoffmann, Ary A.

    2013-01-01

    Traits do not evolve independently. To understand how trait changes under selection might constrain adaptive changes, phenotypic and genetic correlations are typically considered within species, but these capture constraints across a few generations rather than evolutionary time. For longer-term constraints, comparisons are needed across species but associations may arise because of correlated selection pressures rather than genetic interactions. Implementing a unique approach, we use known patterns of selection to separate likely trait correlations arising due to correlated selection from those reflecting genetic constraints. We examined the evolution of stress resistance in >90 Drosophila species adapted to a range of environments, while controlling for phylogeny. Initially we examined the role of climate and phylogeny in shaping the evolution of starvation and body size, two traits previously not examined in this context. Following correction for phylogeny only a weak relationship between climate and starvation resistance was detected, while all of the variation in the relationship between body size and climate could be attributed to phylogeny. Species were divided into three environmental groups (hot and dry, hot and wet, cold) with the expectation that, if genetic correlations underpin trait correlations, these would persist irrespective of the environment, whereas selection-driven evolution should produce correlations dependent on the environment. We found positive associations between most traits in hot and dry environments coupled with high trait means. In contrast few trait correlations were observed in hot/wet and cold environments. These results suggest trait associations are primarily driven by correlated selection rather than genetic interactions, highlighting that such interactions are unlikely to limit evolution of stress resistance. PMID:24015206

  6. Genetic and Environmental Basis in Phenotype Correlation Between Physical Function and Cognition in Aging Chinese Twins.

    Science.gov (United States)

    Xu, Chunsheng; Zhang, Dongfeng; Tian, Xiaocao; Wu, Yili; Pang, Zengchang; Li, Shuxia; Tan, Qihua

    2017-02-01

    Although the correlation between cognition and physical function has been well studied in the general population, the genetic and environmental nature of the correlation has been rarely investigated. We conducted a classical twin analysis on cognitive and physical function, including forced expiratory volume in one second (FEV1), forced vital capacity (FVC), handgrip strength, five-times-sit-to-stand test (FTSST), near visual acuity, and number of teeth lost in 379 complete twin pairs. Bivariate twin models were fitted to estimate the genetic and environmental correlation between physical and cognitive function. Bivariate analysis showed mildly positively genetic correlations between cognition and FEV1, r G = 0.23 [95% CI: 0.03, 0.62], as well as FVC, r G = 0.35 [95% CI: 0.06, 1.00]. We found that FTSST and cognition presented very high common environmental correlation, r C = -1.00 [95% CI: -1.00, -0.57], and low but significant unique environmental correlation, r E = -0.11 [95% CI: -0.22, -0.01], all in the negative direction. Meanwhile, near visual acuity and cognition also showed unique environmental correlation, r E = 0.16 [95% CI: 0.03, 0.27]. We found no significantly genetic correlation for cognition with handgrip strength, FTSST, near visual acuity, and number of teeth lost. Cognitive function was genetically related to pulmonary function. The FTSST and cognition shared almost the same common environmental factors but only part of the unique environmental factors, both with negative correlation. In contrast, near visual acuity and cognition may positively share part of the unique environmental factors.

  7. Genetic correlations among and between wool, growth and reproduction traits in Merino sheep.

    Science.gov (United States)

    Safari, E; Fogarty, N M; Gilmour, A R; Atkins, K D; Mortimer, S I; Swan, A A; Brien, F D; Greeff, J C; van der Werf, J H J

    2007-04-01

    Data from seven research resource flocks across Australia were combined to provide accurate estimates of genetic correlations among production traits in Merino sheep. The flocks represented contemporary Australian Merino fine, medium and broad wool strains over the past 30 years. Over 110,000 records were available for analysis for each of the major wool traits, and 50,000 records for reproduction and growth traits with over 2700 sires and 25,000 dams. Individual models developed from the single trait analyses were extended to the various combinations of two-trait models to obtain genetic correlations among six wool traits [clean fleece weight (CFW), greasy fleece weight, fibre diameter (FD), yield, coefficient of variation of fibre diameter and standard deviation of fibre diameter], four growth traits [birth weight, weaning weight, yearling weight (YWT), and hogget weight] and four reproduction traits [fertility, litter size, lambs born per ewe joined, lambs weaned per ewe joined (LW/EJ)]. This study has provided for the first time a comprehensive matrix of genetic correlations among these 14 wool, growth and reproduction traits. The large size of the data set has also provided estimates with very low standard errors. A moderate positive genetic correlation was observed between CFW and FD (0.29 +/- 0.02). YWT was positively correlated with CFW (0.23 +/- 0.04), FD (0.17 +/- 0.04) and LWEJ (0.58 +/- 0.06), while LW/EJ was negatively correlated with CFW (-0.26 +/- 0.05) and positively correlated with FD (0.06 +/- 0.04) and LS (0.68 +/- 0.04). These genetic correlations, together with the estimates of heritability and other parameters provide the basis for more accurate prediction of outcomes in complex sheep-breeding programmes designed to improve several traits.

  8. Genetic Correlations between Young Horse and Dressage Competition Results in Danish Warmblood Horses

    DEFF Research Database (Denmark)

    Jönsson, Lina Johanna Maria; Christiansen, Karina; Holm, Maiken;

    2014-01-01

    ABSTRACT: Young horse results of conformation and gaits were studied for their heritability and genetic correlation to future dressage competition results, to assess their value as young horse indicator traits. The young horse gait- and conformation scores generally had higher heritabilities (0.......13˗0.48) than the breeding goal trait of dressage competition results (0.16). Young horse results showed medium high to high genetic correlations to dressage competition results (0.32˗0.91) where most recorded young horse gait- and conformation scores contributed with considerable information to future dressage...... competition results. If considering both accuracy of each young horse trait and genetic correlation to dressage competition results, as rg×rIA, the best young horse indicator traits for future performance were capacity, trot, canter, and rideability, all under own rider. Most important conformation traits...

  9. Genetic Correlations between Young Horse and Dressage Competition Results in Danish Warmblood Horses

    DEFF Research Database (Denmark)

    Jönsson, Lina Johanna Maria; Christiansen, Karina; Holm, Maiken

    2014-01-01

    ABSTRACT: Young horse results of conformation and gaits were studied for their heritability and genetic correlation to future dressage competition results, to assess their value as young horse indicator traits. The young horse gait- and conformation scores generally had higher heritabilities (0.......13˗0.48) than the breeding goal trait of dressage competition results (0.16). Young horse results showed medium high to high genetic correlations to dressage competition results (0.32˗0.91) where most recorded young horse gait- and conformation scores contributed with considerable information to future dressage...... competition results. If considering both accuracy of each young horse trait and genetic correlation to dressage competition results, as rg×rIA, the best young horse indicator traits for future performance were capacity, trot, canter, and rideability, all under own rider. Most important conformation traits...

  10. The correlation between reading and mathematics ability at age twelve has a substantial genetic component.

    Science.gov (United States)

    Davis, Oliver S P; Band, Gavin; Pirinen, Matti; Haworth, Claire M A; Meaburn, Emma L; Kovas, Yulia; Harlaar, Nicole; Docherty, Sophia J; Hanscombe, Ken B; Trzaskowski, Maciej; Curtis, Charles J C; Strange, Amy; Freeman, Colin; Bellenguez, Céline; Su, Zhan; Pearson, Richard; Vukcevic, Damjan; Langford, Cordelia; Deloukas, Panos; Hunt, Sarah; Gray, Emma; Dronov, Serge; Potter, Simon C; Tashakkori-Ghanbaria, Avazeh; Edkins, Sarah; Bumpstead, Suzannah J; Blackwell, Jenefer M; Bramon, Elvira; Brown, Matthew A; Casas, Juan P; Corvin, Aiden; Duncanson, Audrey; Jankowski, Janusz A Z; Markus, Hugh S; Mathew, Christopher G; Palmer, Colin N A; Rautanen, Anna; Sawcer, Stephen J; Trembath, Richard C; Viswanathan, Ananth C; Wood, Nicholas W; Barroso, Ines; Peltonen, Leena; Dale, Philip S; Petrill, Stephen A; Schalkwyk, Leonard S; Craig, Ian W; Lewis, Cathryn M; Price, Thomas S; Donnelly, Peter; Plomin, Robert; Spencer, Chris C A

    2014-07-08

    Dissecting how genetic and environmental influences impact on learning is helpful for maximizing numeracy and literacy. Here we show, using twin and genome-wide analysis, that there is a substantial genetic component to children's ability in reading and mathematics, and estimate that around one half of the observed correlation in these traits is due to shared genetic effects (so-called Generalist Genes). Thus, our results highlight the potential role of the learning environment in contributing to differences in a child's cognitive abilities at age twelve.

  11. Heritability of shoulder ulcers and genetic correlations with mean piglet weight and sow body condition.

    Science.gov (United States)

    Lundgren, H; Zumbach, B; Lundeheim, N; Grandinson, K; Vangen, O; Olsen, D; Rydhmer, L

    2012-01-01

    The objective of this paper was to estimate the heritability for shoulder ulcers and the genetic correlations between shoulder ulcers, mean piglet weight and sow body condition. The analyses were based on information on 5549 Norwegian Landrace sows and their 7614 purebred litters. The genetic analysis was performed using the Gibbs sampling method. Shoulder ulcers were analyzed as a threshold trait. Sow body condition and mean piglet weight were analyzed as linear traits. The heritability of shoulder ulcers was estimated at 0.25 (s.d. = 0.03). The heritability for sow body condition was estimated at 0.14 (s.d. = 0.02) and that for mean piglet weight at 0.23 (s.d. = 0.02). The genetic correlation between shoulder ulcers and sow body condition was negative (-0.59, s.d. = 0.09). The genetic correlation between shoulder ulcers and mean piglet weight was positive (0.23, s.d. = 0.10) and the genetic correlation between sow body condition and mean piglet weight was negative (-0.24, s.d. = 0.10).

  12. 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.

  13. Is there a genetic correlation between general factors of intelligence and personality?

    Science.gov (United States)

    Loehlin, John C; Bartels, Meike; Boomsma, Dorret I; Bratko, Denis; Martin, Nicholas G; Nichols, Robert C; Wright, Margaret J

    2015-06-01

    We tested a hypothesis that there is no genetic correlation between general factors of intelligence and personality, despite both having been selected for in human evolution. This was done using twin samples from Australia, the United States, the Netherlands, Great Britain, and Croatia, comprising altogether 1,748 monozygotic and 1,329 same-sex dizygotic twin pairs. Although parameters in the model-fitting differed among the twin samples, the genetic correlation between the two general factors could be set to zero, with a better fit if the U.S. sample was excepted.

  14. Genetic variables of various manifestations of osteochondrosis and their correlations between and within joints in Dutch warmblood horses

    NARCIS (Netherlands)

    Grevenhof, van E.M.; Schurink, A.; Ducro, B.J.; Weeren, van P.R.; Tartwijk, van J.M.F.M.

    2009-01-01

    Osteochondrosis (OC) is an important orthopedic developmental disorder in many horse populations. A review of the literature revealed widely variable heritability estimates for the disorder. We estimated the genetic variables (heritabilities and genetic correlations) of various manifestations of OC.

  15. Estimates of genetic correlations between testicular measurements and female reproductive traits in cattle.

    Science.gov (United States)

    Toelle, V D; Robison, O W

    1985-01-01

    Data from 528 male and 645 female progeny of 63 sires were used to estimate genetic correlations between female and male reproductive traits. Data were from two Hereford herds involved in a long-term selection program of the North Carolina Agricultural Experiment Service. Testicular measurements of circumference, diameter, length and volume were obtained on bulls at 205 and 365 d. Testicular growth measures were defined as differences between 205-and 365-d measurements. Heifers were placed in the breeding herd as yearlings and given two breeding seasons to produce a calf. Traits utilized from females were three age-at-first-breeding traits, two age-at-first-calving traits, two pregnancy rate traits, rebreeding interval and calving interval. Genetic correlations were estimated from half-sib and from sire-daughter analyses. Seventy-five percent or more of the correlations of testicular measurements with pregnancy rats, age at first breeding and age at first calving were in the favorable direction. Average correlations were .62, -.55 and -.66, respectively. For each of the remaining female traits, approximately 50% of the correlations were favorable and the average correlations were small. Correlations were summarized by testicular measurement with favorable correlations given a negative sign. Testicular diameter had more favorable correlations (80%) than length, volume or circumference (70%). However, average correlations were similar (-.31, -.30, -.34 and -.26, respectively). Testicular measurements taken at either 205 or 365 d had the same percentage of favorable correlations (72%), while testicular growth measurements had a slightly higher percentage of favorable correlations (78%). Average correlations of 365-d measures were higher (-.38) than either 205-d or growth measures (-.25 and -.28, respectively). Heritabilities for testicular measurements tended to be moderate to high, while those for female reproduction tended to be low to moderate. These results

  16. Correlates of genetic monogamy in socially monogamous mammals: insights from Azara's owl monkeys.

    Science.gov (United States)

    Huck, Maren; Fernandez-Duque, Eduardo; Babb, Paul; Schurr, Theodore

    2014-05-07

    Understanding the evolution of mating systems, a central topic in evolutionary biology for more than 50 years, requires examining the genetic consequences of mating and the relationships between social systems and mating systems. Among pair-living mammals, where genetic monogamy is extremely rare, the extent of extra-group paternity rates has been associated with male participation in infant care, strength of the pair bond and length of the breeding season. This study evaluated the relationship between two of those factors and the genetic mating system of socially monogamous mammals, testing predictions that male care and strength of pair bond would be negatively correlated with rates of extra-pair paternity (EPP). Autosomal microsatellite analyses provide evidence for genetic monogamy in a pair-living primate with bi-parental care, the Azara's owl monkey (Aotus azarae). A phylogenetically corrected generalized least square analysis was used to relate male care and strength of the pair bond to their genetic mating system (i.e. proportions of EPP) in 15 socially monogamous mammalian species. The intensity of male care was correlated with EPP rates in mammals, while strength of pair bond failed to reach statistical significance. Our analyses show that, once social monogamy has evolved, paternal care, and potentially also close bonds, may facilitate the evolution of genetic monogamy.

  17. Molecular marker heterozygosities and genetic distances as correlates of production traits in F1 bovine crosses

    Directory of Open Access Journals (Sweden)

    Daniella Tambasco-Talhari

    2005-01-01

    Full Text Available Several studies have investigated the relationship between heterozygosity, genetic distance and production traits. The objective of the present study was to evaluate the influence of the degree of heterozygosity and genetic distance on growth, carcass and reproductive related features in F1 bovine crosses. We tested 10 polymorphic markers in 330 purebred cattle (Nelore, Canchim, Aberdeen Angus and Simental and 256 crossbred cattle belonging to four crossbred groups. Individual heterozygosities (Hi and multilocus genetic similarity (Dm were estimated and used in correlation analysis against individual phenotypic measurements. Significant (p < 0.05 Hi effects occurred for birth weight, 15 to 18 month weight, hot carcass weight and longissimus rib eye area. The extent to which increased heterozygosity (deltaH in F1 crosses can be predicted from the genetic distance of parental breeds was also investigated using Nei's standard genetic distance (Ds and standard heterozygosity (Hs. High correlations were found between deltaHi, deltaHs and the Ds of the parental breeds. Our results suggest that heterozygosity of the ten molecular markers used in this study may affect live weight during at least one growth phase. Parental genetic distance was a suitable predictor of the degree of progeny heterozygosity.

  18. Physiological vagility: correlations with dispersal and population genetic structure of amphibians.

    Science.gov (United States)

    Hillman, Stanley S; Drewes, Robert C; Hedrick, Michael S; Hancock, Thomas V

    2014-01-01

    Physiological vagility represents the capacity to move sustainably and is central to fully explaining the processes involved in creating fine-scale genetic structure of amphibian populations, because movement (vagility) and the duration of movement determine the dispersal distance individuals can move to interbreed. The tendency for amphibians to maintain genetic differentiation over relatively short distances (isolation by distance) has been attributed to their limited dispersal capacity (low vagility) compared with other vertebrates. Earlier studies analyzing genetic isolation and population differentiation with distance treat all amphibians as equally vagile and attempt to explain genetic differentiation only in terms of physical environmental characteristics. We introduce a new quantitative metric for vagility that incorporates aerobic capacity, body size, body temperature, and the cost of transport and is independent of the physical characteristics of the environment. We test our metric for vagility with data for dispersal distance and body mass in amphibians and correlate vagility with data for genetic differentiation (F'(ST)). Both dispersal distance and vagility increase with body size. Differentiation (F'(ST)) of neutral microsatellite markers with distance was inversely and significantly (R2=0.61) related to ln vagility. Genetic differentiation with distance was not significantly related to body mass alone. Generalized observations are validated with several specific amphibian studies. These results suggest that interspecific differences in physiological capacity for movement (vagility) can contribute to genetic differentiation and metapopulation structure in amphibians.

  19. Genetic correlations between conformation traits and radiographic findings in the limbs of German Warmblood riding horses.

    Science.gov (United States)

    Stock, Kathrin Friederike; Distl, Ottmar

    2006-01-01

    Studbook inspection (SBI) data of 20 768 German Warmblood mares and radiography results (RR) data of 5102 Hanoverian Warmblood horses were used for genetic correlation analyses. The scores on a scale from 0 to 10 were given for conformation and basic quality of gaits, resulting in 14 SBI traits which were used for the correlation analyses. The radiographic findings considered included osseous fragments in fetlock (OFF) and hock joints (OFH), deforming arthropathy in hock joints (DAH) and distinct radiographic findings in the navicular bones (DNB) which were analyzed as binary traits, and radiographic appearance of the navicular bones (RNB) which was analyzed as a quasi-linear trait. Genetic parameters were estimated multivariately in linear animal models with REML using information on 24 448 horses with SBI and/or RR records. The ranges of heritability estimates were h2 = 0.14-0.34 for the RR traits and h2 = 0.09-0.50 for the SBI traits. Negative additive genetic correlations of r(g) = -0.19 to -0.56 were estimated between OFF and conformation of front and hind limbs and walk at hand, and between DNB and hind limb conformation. There were indications of negative additive genetic correlations between DAH and all SBI traits, but because of low prevalence and low heritability of DAH, these results require further scrutiny. Positive additive genetic correlations of r(g) = 0.37-0.52 were estimated between OFF and withers height and between OFH and withers height, indicating that selection for taller horses will increase disposition to develop OFF and OFH. Selection of broodmares with regards to functional conformation will assist, but cannot replace possible selection against radiographic findings in the limbs of young Warmblood riding horses, particularly with regards to OFF.

  20. Genetic correlations between conformation traits and radiographic findings in the limbs of German Warmblood riding horses

    Directory of Open Access Journals (Sweden)

    Distl Ottmar

    2006-11-01

    Full Text Available Abstract Studbook inspection (SBI data of 20 768 German Warmblood mares and radiography results (RR data of 5102 Hanoverian Warmblood horses were used for genetic correlation analyses. The scores on a scale from 0 to 10 were given for conformation and basic quality of gaits, resulting in 14 SBI traits which were used for the correlation analyses. The radiographic findings considered included osseous fragments in fetlock (OFF and hock joints (OFH, deforming arthropathy in hock joints (DAH and distinct radiographic findings in the navicular bones (DNB which were analyzed as binary traits, and radiographic appearance of the navicular bones (RNB which was analyzed as a quasi-linear trait. Genetic parameters were estimated multivariately in linear animal models with REML using information on 24 448 horses with SBI and/or RR records. The ranges of heritability estimates were h2 = 0.14–0.34 for the RR traits and h2 = 0.09–0.50 for the SBI traits. Negative additive genetic correlations of rg = -0.19 to -0.56 were estimated between OFF and conformation of front and hind limbs and walk at hand, and between DNB and hind limb conformation. There were indications of negative additive genetic correlations between DAH and all SBI traits, but because of low prevalence and low heritability of DAH, these results require further scrutiny. Positive additive genetic correlations of rg = 0.37–0.52 were estimated between OFF and withers height and between OFH and withers height, indicating that selection for taller horses will increase disposition to develop OFF and OFH. Selection of broodmares with regards to functional conformation will assist, but cannot replace possible selection against radiographic findings in the limbs of young Warmblood riding horses, particularly with regards to OFF.

  1. The correlation of fecundability among twins: Evidence of a genetic effect on fertility?

    DEFF Research Database (Denmark)

    Christensen, Kaare; Kohler, Hans-Peter; Basso, Olga;

    2003-01-01

    born 1953-1982. Fecundability was assessed as the waiting time to pregnancy at the first attempt to achieve a pregnancy. RESULTS: The reported time to pregnancy for males was slightly shorter than for females but there were no sex differences in intrapair similarity. We found an intrapair correlation......BACKGROUND: Numerous rare genetic conditions are known to influence fecundability in both males and females. It is less clear to what extent more subtle genetic differences influence fecundability on a population level. METHODS: In 1994 a population-based survey was conducted among Danish twins...... in time to pregnancy for 645 monozygotic twin pairs (r = 0.22; 95% confidence interval = 0.12 to 0.32), but no intrapair correlation for 826 like-sex dizygotic twin pairs (r = 0.00; 95% confidence interval = -0.09 to 0.10). CONCLUSIONS: The correlation in time to pregnancy for monozygotic twins suggests...

  2. Genetic correlations between ewe reproduction and carcass and meat quality traits in Merino sheep.

    Science.gov (United States)

    Safari, E; Fogarty, N M; Hopkins, D L; Greeff, J C; Brien, F D; Atkins, K D; Mortimer, S I; Taylor, P J; van der Werf, J H J

    2008-12-01

    Genetic correlations between reproduction traits in ewes and carcass and meat quality traits in Merino rams were obtained using restricted maximum likelihood procedures. The carcass data were from 5870 Merino rams slaughtered at approximately 18 months of age that were the progeny of 543 sires from three research resource flocks over 7 years. The carcass traits included ultrasound scan fat and eye muscle depth (EMDUS) measured on live animals, dressing percentage and carcass tissue depth (at the GR site FATGR and C site FATC), eye muscle depth, width and area and the meat quality indicator traits of muscle final pH and colour (L*, a*, b*). The reproduction data consisted of 13 464 ewe joining records for number of lambs born and weaned and 9015 records for LS. The genetic correlations between reproduction and fat measurements were negative (range -0.06 +/- 0.12 to -0.37 +/- 0.12), with smaller correlations for live measurement than carcass traits. There were small favourable genetic correlations between reproduction traits and muscle depth in live rams (EMDUS, 0.10 +/- 0.12 to 0.20 +/- 0.12), although those with carcass muscle traits were close to zero. The reproduction traits were independent of meat colour L* (relative brightness), but tended to be favourably correlated with meat colour a* (relative redness, 0.12 +/- 0.17 to 0.19 +/- 0.16). There was a tendency for meat final pH to have small negative favourable genetic correlations with reproduction traits (0.05 +/- 0.11 to -0.17 +/- 0.12). This study indicates that there is no antagonism between reproduction traits and carcass and meat quality indicator traits, with scope for joint improvement of reproduction, carcass and meat quality traits in Merino sheep.

  3. A meta-analysis of genetic correlations between plant resistances to multiple enemies.

    Science.gov (United States)

    Leimu, Roosa; Koricheva, Julia

    2006-07-01

    Genetic correlations between plant resistances to multiple natural enemies are important because they have the potential to determine the mode of selection that natural enemies impose on a host plant, the structure of herbivore and pathogen communities, and the success of plant breeding for resistance to multiple diseases and pests. We conducted a meta-analysis of 29 published studies of 16 different plant species reporting a total of 467 genetic correlations between resistances to multiple herbivores or pathogens. In general, genetic associations between resistances to multiple natural enemies tended to be positive regardless of the breeding design, type of attacker, and type of host plant. Positive genetic correlations between resistances were stronger when both attackers were pathogens or generalist herbivores and when resistance to different enemies was tested independently, suggesting that generalists may be affected by the same plant resistance traits and that interactions among natural enemies are common. Although the mean associations between resistances were positive, indicating the prevalence of diffuse selection and generalized defenses against multiple enemies, the large variation in both the strength and the direction of the associations suggests a continuum between pairwise and diffuse selection.

  4. Prediction of direct and indirect genetic gains and genotypic correlations in rubber tree progenies

    Directory of Open Access Journals (Sweden)

    Cecília Khusala Verardi

    2011-09-01

    Full Text Available The objective of this work was to estimate the genetic parameters, genotypic and phenotypic correlations, and direct and indirect genetic gains among and within rubber tree (Hevea brasiliensis progenies. The experiment was set up at the Municipality of Jaú, SP, Brazil. A randomized complete block design was used, with 22 treatments (progenies, 6 replicates, and 10 plants per plot at a spacing of 3x3 m. Three‑year‑old progenies were assessed for girth, rubber yield, and bark thickness by direct and indirect gains and genotypic correlations. The number of latex vessel rings showed the best correlations, correlating positively and significantly with girth and bark thickness. Selection gains among progenies were greater than within progeny for all the variables analyzed. Total gains obtained were high, especially for girth increase and rubber yield, which were 93.38 and 105.95%, respectively. Young progeny selection can maximize the expected genetic gains, reducing the rubber tree selection cycle.

  5. Genetic vs Environmental Factors That Correlate With Rosacea: A Cohort-Based Survey of Twins.

    Science.gov (United States)

    Aldrich, Nely; Gerstenblith, Meg; Fu, Pingfu; Tuttle, Marie S; Varma, Priya; Gotow, Erica; Cooper, Kevin D; Mann, Margaret; Popkin, Daniel L

    2015-11-01

    To our knowledge, this is the first study on rosacea to formally define genetic and environmental contributions. To study a cohort of identical and fraternal twins to determine whether genetic factors contribute to rosacea development and, if genetic factors are present, quantitatively estimate the genetic contribution, as well as to identify environmental factors that correlate with rosacea by controlling for genetic susceptibility. Identical and fraternal twins were surveyed regarding risk factors implicated in rosacea. Faculty dermatologists determined a rosacea score for each twin participant according to the National Rosacea Society (NRS) grading system. Data were collected at the annual Twins Days Festival in Twinsburg, Ohio, on August 4-5, 2012, and August 2-3, 2013. Analysis was conducted for several months after each meeting. A cohort of 550 twin individuals, with most from Ohio, Pennsylvania, and the northeastern United States, participated. The NRS score and rosacea subtype were assessed using the NRS grading system and physical examination by board-certified dermatologists. Among the 275 twin pairs (550 individuals), there were 233 identical twin pairs with a mean rosacea score of 2.46 and 42 fraternal twin pairs with a mean rosacea score of 0.75. We observed a higher association of NRS scores between identical vs fraternal twins (r = 0.69 vs r = 0.46; P = .04), demonstrating a genetic contribution. Using the ACE model (proportion of variance in a trait heritable secondary to additive genetics [A] vs the proportions due to a common environment [C] and unique environment [E]), we calculated this genetic contribution to be 46%. A higher NRS score was also significantly associated with the following factors: age (r = 0.38; P twins allows us to separate genetic susceptibility and the influence of environmental factors affecting rosacea. We found that approximately half of the contribution to the NRS score could be accounted for by genetics

  6. Differential trypanocidal activity of novel macrolide antibiotics; correlation to genetic lineage.

    Directory of Open Access Journals (Sweden)

    Carolina Aquilino

    Full Text Available Here we report the systematic study of the anti-trypanocidal activity of some new products derived from S. diastatus on 14 different T. cruzi strains spanning the six genetic lineages of T. cruzi. As the traditional growth inhibition curves giving similar IC(50 showed great differences on antibiotic and lineage tested, we decided to preserve the wealth of information derived from each inhibition curve and used an algorithm related to potency of the drugs, combined in a matrix data set used to generate a cluster tree. The cluster thus generated based just on drug susceptibility data closely resembles the phylogenies of the lineages derived from genetic data and provides a novel approach to correlate genetic data with phenotypes related to pathogenesis of Chagas disease. Furthermore we provide clues on the drugs mechanism of action.

  7. Species-genetic diversity correlations in habitat fragmentation can be biased by small sample sizes.

    Science.gov (United States)

    Nazareno, Alison G; Jump, Alistair S

    2012-06-01

    Predicted parallel impacts of habitat fragmentation on genes and species lie at the core of conservation biology, yet tests of this rule are rare. In a recent article in Ecology Letters, Struebig et al. (2011) report that declining genetic diversity accompanies declining species diversity in tropical forest fragments. However, this study estimates diversity in many populations through extrapolation from very small sample sizes. Using the data of this recent work, we show that results estimated from the smallest sample sizes drive the species-genetic diversity correlation (SGDC), owing to a false-positive association between habitat fragmentation and loss of genetic diversity. Small sample sizes are a persistent problem in habitat fragmentation studies, the results of which often do not fit simple theoretical models. It is essential, therefore, that data assessing the proposed SGDC are sufficient in order that conclusions be robust.

  8. Thermal phenotypic plasticity of body size in Drosophila melanogaster: sexual dimorphism and genetic correlations

    Indian Academy of Sciences (India)

    Jean R. David; Amir Yassin; Jean-Claude Moreteau; Helene Legout; Brigitte Moreteau

    2011-08-01

    Thirty isofemale lines collected in three different years from the same wild French population were grown at seven different temperatures (12–31°C). Two linear measures, wing and thorax length, were taken on 10 females and 10 males of each line at each temperature, also enabling the calculation of the wing/thorax (W/T) ratio, a shape index related to wing loading. Genetic correlations were calculated using family means. The W–T correlation was independent of temperature and on average, 0.75. For each line, characteristic values of the temperature reaction norm were calculated, i.e. maximum value, temperature of maximum value and curvature. Significant negative correlations were found between curvature and maximum value or temperature of maximum value. Sexual dimorphism was analysed by considering either the correlation between sexes or the female/male ratio. Female–male correlation was on average 0.75 at the within line, within temperature level but increased up to 0.90 when all temperatures were averaged for each line. The female/male ratio was genetically variable among lines but without any temperature effect. For the female/male ratio, heritability (intraclass correlation) was about 0.20 and evolvability (genetic coefficient of variation) close to 1. Although significant, these values are much less than for the traits themselves. Phenotypic plasticity of sexual dimorphism revealed very similar reaction norms for wing and thorax length, i.e. a monotonically increasing sigmoid curve from about 1.11 up to 1.17. This shows that the males are more sensitive to a thermal increase than females. In contrast, the W/T ratio was almost identical in both sexes, with only a very slight temperature effect.

  9. The heritability and genetic correlates of mobile phone use: a twin study of consumer behavior.

    Science.gov (United States)

    Miller, Geoffrey; Zhu, Gu; Wright, Margaret J; Hansell, Narelle K; Martin, Nicholas G

    2012-02-01

    There has been almost no overlap between behavior genetics and consumer behavior research, despite each field's importance in understanding society. In particular, both have neglected to study genetic influences on consumer adoption and usage of new technologies -- even technologies as important as the mobile phone, now used by 5.8 out of 7.0 billion people on earth. To start filling this gap, we analyzed self-reported mobile phone use, intelligence, and personality traits in two samples of Australian teenaged twins (mean ages 14.2 and 15.6 years), totaling 1,036 individuals. ACE modeling using Mx software showed substantial heritabilities for how often teens make voice calls (.60 and .34 in samples 1 and 2, respectively) and for how often they send text messages (.53 and. 50). Shared family environment - including neighborhood, social class, parental education, and parental income (i.e., the generosity of calling plans that parents can afford for their teens) -- had much weaker effects. Multivariate modeling based on cross-twin, cross-trait correlations showed negative genetic correlations between talking/texting frequency and intelligence (around -.17), and positive genetic correlations between talking/texting frequency and extraversion (about .20 to .40). Our results have implications for assessing the risks of mobile phone use such as radiofrequency field (RF) exposure and driving accidents, for studying adoption and use of other emerging technologies, for understanding the genetic architecture of the cognitive and personality traits that predict consumer behavior, and for challenging the common assumption that consumer behavior is shaped entirely by culture, media, and family environment.

  10. Interspecific patterns of genetic diversity in birds: correlations with extinction risk.

    Science.gov (United States)

    Evans, Simon R; Sheldon, Ben C

    2008-08-01

    Birds are frequently used as indicators of ecosystem health and are the most comprehensively studied class in the animal kingdom. Nevertheless, a comprehensive, interspecific assessment of the correlates of avian genetic diversity is lacking, even though indices of genetic diversity are of considerable interest in the conservation of threatened species. We used published data on variation at microsatellite loci from 194 bird species to examine correlates of diversity, particularly with respect to conservation status and population size. We found a significant decline in mean heterozygosity with increasing extinction risk, and showed, by excluding species whose heterozygosity values were calculated with heterospecific primers, that this relationship was not dependent on ascertainment bias. Results of subsequent regression analyses suggested that smaller population sizes of threatened species were largely responsible for this relationship. Thus, bird species at risk of extinction are relatively depauperate in terms of neutral genetic diversity, which is expected to make population recovery more difficult if it reflects adaptive genetic variation. Conservation policy will need to minimize further loss of diversity if the chances of saving threatened species are to be maximized.

  11. ESTIMATION OF PHENOTYPIC AND GENETIC CORRELATIONS FOR QUALITY TRAITS IN A WHEAT POPULATION

    Directory of Open Access Journals (Sweden)

    Dario Novoselović

    2012-06-01

    Full Text Available The objective of this paper was to estimate phenotypic and genetic correlations in order to improve existing wheat quality breeding methodology in early generations. For this purpose, one-year trial with population of 143 recombinant inbred lines from crossing combination Bezostaja/Klara was carried out on Osijek and Slavonski Brod locations in 2008/09 year. Among analyzed traits (grain protein content, wet gluten content, gluten index, mid-line peak time -MPT, mid-line peak height -MPH and mid-line tail width -MTW consistent positive phenotypic and genetic pattern of correlations was found between grain protein content and wet gluten content, negative between gluten index with grain protein content and wet gluten content, and positive between grain protein content and wet gluten content with MPT and MPH. Conformity of the phenotypic and genetic correlations was confirmed by Mantel test on both locations (for Osijek r=0.81** and for Slavonski Brod r=0.88**.

  12. Similarity in recombination rate estimates highly correlates with genetic differentiation in humans.

    Directory of Open Access Journals (Sweden)

    Hafid Laayouni

    Full Text Available Recombination varies greatly among species, as illustrated by the poor conservation of the recombination landscape between humans and chimpanzees. Thus, shorter evolutionary time frames are needed to understand the evolution of recombination. Here, we analyze its recent evolution in humans. We calculated the recombination rates between adjacent pairs of 636,933 common single-nucleotide polymorphism loci in 28 worldwide human populations and analyzed them in relation to genetic distances between populations. We found a strong and highly significant correlation between similarity in the recombination rates corrected for effective population size and genetic differentiation between populations. This correlation is observed at the genome-wide level, but also for each chromosome and when genetic distances and recombination similarities are calculated independently from different parts of the genome. Moreover, and more relevant, this relationship is robustly maintained when considering presence/absence of recombination hotspots. Simulations show that this correlation cannot be explained by biases in the inference of recombination rates caused by haplotype sharing among similar populations. This result indicates a rapid pace of evolution of recombination, within the time span of differentiation of modern humans.

  13. Common genetic variants explain the majority of the correlation between height and intelligence: the generation Scotland study.

    Science.gov (United States)

    Marioni, Riccardo E; Batty, G David; Hayward, Caroline; Kerr, Shona M; Campbell, Archie; Hocking, Lynne J; Porteous, David J; Visscher, Peter M; Deary, Ian J

    2014-03-01

    Greater height and higher intelligence test scores are predictors of better health outcomes. Here, we used molecular (single-nucleotide polymorphism) data to estimate the genetic correlation between height and general intelligence (g) in 6,815 unrelated subjects (median age 57, IQR 49-63) from the Generation Scotland: Scottish Family Health Study cohort. The phenotypic correlation between height and g was 0.16 (SE 0.01). The genetic correlation between height and g was 0.28 (SE 0.09) with a bivariate heritability estimate of 0.71. Understanding the molecular basis of the correlation between height and intelligence may help explain any shared role in determining health outcomes. This study identified a modest genetic correlation between height and intelligence with the majority of the phenotypic correlation being explained by shared genetic influences.

  14. Heritabilities and genetic correlations of laying performance in Muscovy ducks selected in Taiwan.

    Science.gov (United States)

    Hu, Y H; Poivey, J P; Rouvier, R; Liu, S C; Tai, C

    2004-04-01

    1. Genetic parameters in the base population of a closed experimental strain of Muscovy ducks, selected for body weight at 10 weeks of age, were estimated from data in 8 successive generations, for the following traits: age at first egg (AGE1EGG), total number of eggs laid at 40 and 52 weeks of age (NEGG40 and NEGG52), number of eggs laid during 15 and 22 weeks in the first laying cycle (NEGG15W and NEGG22W), and their Box-Cox transformed data. 2. The method of multi-trait restricted maximum likelihood with an animal model was used to estimate genetic parameters. Only the results obtained with non-transformed data are shown. 3. Heritability estimates for laying performance showed moderate values, increasing little with age: 0.20+/-0.03 (AGE1EGG), 0.23+/-0.03 (NEGG40), 0.27+/-0.03 (NEGG52), 0.20+/-0.03 (NEGG15W), and 0.22+/-0.03 (NEGG22W). 4. Genetic correlations between laying traits were high. Genetic correlation between AGE1EGG and egg number was negative, it was positive between total numbers of eggs at 40 and 52 weeks and egg numbers in the first laying cycle. 5. Body weight at 10 weeks of age exhibited positive genetic correlations (0.46+/-0.06) with age at first egg and negative with egg production traits (-0.28+/-0.06 to -0.41+/-0.06). 6. The cumulated predicted genetic gains, after 7 generations of selection, expressed per genetic standard deviation unit (sigma(g)) were 0.06 sigma(g), 0.07 sigma(g), 0.17 sigma(g), 0.23 sigma(g), and 0.25 sigma(g) for AGE1EGG, NEGG40, NEGG52, NEGG15W, and NEGG22W, respectively. 7. Selecting Muscovy ducks to improve laying in Taiwanese climatic conditions would be possible using the number of eggs laid up to 52 weeks of age as the selection criterion. Because unintended selection effects for laying traits were present, the selection experiment for body weight at 10 weeks of age was not antagonistic with laying traits.

  15. Heritability and genetic correlation of hair cortisol in vervet monkeys in low and higher stress environments.

    Science.gov (United States)

    Fairbanks, Lynn A; Jorgensen, Matthew J; Bailey, Julia N; Breidenthal, Sherry E; Grzywa, Rachel; Laudenslager, Mark L

    2011-09-01

    Chronic activation of the hypothalamic-pituitary adrenal (HPA) system is a risk factor for a variety of physical and mental disorders, and yet the complexity of the system has made it difficult to define the role of genetic and environmental factors in producing long-term individual differences in HPA activity. Cortisol levels in hair have been suggested as a marker of total HPA activation over a period of several months. This study takes advantage of a pedigreed nonhuman primate colony to investigate genetic and environmental influences on hair cortisol levels before and after an environmental change. A sample of 226 adult female vervet monkeys (age 3-18) living in multigenerational, matrilineal social groups at the Vervet Research Colony were sampled in a stable low stress baseline environment and 6 months after the entire colony was moved to a new facility with more frequent handling and group disturbances (higher stress environment). Variance components analysis using the extended colony pedigree was applied to determine heritability of hair cortisol levels in the two environments. Bivariate genetic correlation assessed degree of overlap in genes influencing hair cortisol levels in the low and higher stress environments. The results showed that levels of cortisol in hair of female vervets increased significantly from the baseline to the post-move environment. Hair cortisol levels were heritable in both environments (h(2)=0.31), and there was a high genetic correlation across environments (rhoG=0.79), indicating substantial overlap in the genes affecting HPA activity in low and higher stress environments. This is the first study to demonstrate that the level of cortisol in hair is a heritable trait. It shows the utility of hair cortisol as a marker for HPA activation, and a useful tool for identifying genetic influences on long term individual differences in HPA activity. The results provide support for an additive model of the effects of genes and environment

  16. Heritabilities and genetic and phenotypic correlations of litter uniformity and litter size in Large White sows

    Institute of Scientific and Technical Information of China (English)

    ZHANG Tian; ZHAO Ke-bin; WANG Li-xian; WANG Li-gang; SHI Hui-bi; YAN Hua; ZHANG Long-chao; LIU Xin; PU Lei; LIANG Jing; ZHANG Yue-bo

    2016-01-01

    Litter uniformity, which is usualy represented by within-litter weight coefifcient of variation at birth (CVB), could inlfuence litter performance of sows and the proiftability of pig enterprises. The objective of this study was to characterize CVB and its effect on other reproductive traits in Large White sows. Genetic parameters and genetic correlation of the reproductive traits, including CVB, within-litter weight coefifcient of variation at three weeks (CVT), total number born (TNB), number born alive (NBA), number born dead (NBD), gestation length (GL), piglet mortality at birth (M0), piglet mortality at three weeks (M3), total litter weight at birth (TLW0), and total litter weight at three weeks (TLW3) were estimated for 2032 Large White litters. The effects of parity and classiifed litter size on CVB, CVT, TNB, NBA, NBD, GL, M0, M3, TLW0, and TLW3 were also estimated. The heritabilities of these reproductive traits ranged from 0.06 to 0.17, with the lowest heritability for CVB and the highest heritability for TLW0. Phenotypic and genetic correlations between these reproductive traits were low to highly positive and negative (ranging from −0.03 to 0.93, and −0.53 to 0.93, respectively). The genetic correlations between TNB and CVB, and between M0 and CVB were 0.32 and 0.29, respectively. In addition, CVB was signiifcantly inlfuenced by parity and litter size class (P<0.05). Al the results suggest that piglet uniformity should be maintained in pig production practices and pig breeding programs.

  17. Molecular genetic and genetic correlations in sodium channelopathies: Lack of founder effect and evidence for a second gene

    Energy Technology Data Exchange (ETDEWEB)

    Wang, J.; Zhou, J.; Feero, W.G.; Conwit, R.; Galloway, G.; Hoffman, E.P. (Univ. of Pittsburgh, PA (United States)); Wessel, H.B. (Children' s Hospital, Pittsburgh, PA (United States) Univ. of Pittsburgh, PA (United States)); Todorovic, S.M. (Univ. of Belgrade (Yugoslavia)); Barany, F. (Cornell Univ., New York, NY (United States)); Hausmanowa-Petrusewicz, I.; Fidzianska, A. (Polish Academy of Sciences, Warsaw (Poland)); Arahata, K. (National Inst. of Neuroscience, Tokyo (Japan)); Sillen, A. (University Hospital, Uppsala (Sweden)); Marks, H.G. (A. I. duPont Inst., Wilmington, DE (United States)); Hartlage, P. (Medical College of Georgia, Augusta (United States)); Ricker, K. (Univ. of Wuerzburg (Germany)); Lehmann-Horn, F. (Univ. of Ulm (Germany)); Hayakawa, H. (Hitachi General Hospital (Japan))

    1993-06-01

    The authors present a correlation of molecular genetic data (mutations) and genetic data (dinucleotide-repeat polymorphisms) for a cohort of seven hyperkalemic periodic paralysis (HyperPP) and two paramyotonia congenita (PC) families from diverse ethnic backgrounds. They found that each of three previously identified point mutations of the adult skeletal muscle sodium-channel gene occurred on two different dinucleotide-repeat haplotypes. These results indicate that dinucleotide-repeat haplotypes are not predictive of allelic heterogeneity in sodium channelopathies, contrary to previous suggestions. In addition, they identified a HyperPP pedigree in which the dominant disorder was not linked to the sodium-channel gene. Thus, a second locus can give rise to a similar clinical phenotype. Some individuals in this pedigree exhibited a base change causing the nonconservative substitution of an evolutionarily conserved amino acid. Because this change was not present in 240 normal chromosomes and was near another HyperPP mutation, it fulfilled the most commonly used criteria for being a mutation rather than a polymorphism. However, linkage studies using single-strand conformation polymorphism-derived and sequence-derived haplotypes excluded this base change as a causative mutation: these data serve as a cautionary example of potential pitfalls in the delineation of change-of-function point mutations. 35 refs., 5 figs., 1 tab.

  18. 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

    2017-01-01

    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 ( ρ^G, −0.46; 95% CI, −0.67 to −0.26), vertebral fracture ( ρ^G, 0.39; 95% CI, 0.18 to 0.61), vBMD ( ρ^G,−0.23; 95% CI, −0.41 to −0.04), and paraspinal muscle density ( ρ^G,−0.22; 95% CI, −0.48 to 0.03). Genetic correlations between kyphosis angle and disc height narrowing ( ρ^G, 0.17; 95% CI, −0.05 to 0.38) and facet joint OA ( ρ^G, 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. PMID:27455046

  19. Correlation of thermal mathematical models for thermal control of space vehicles by means of genetic algorithms

    Science.gov (United States)

    Anglada, Eva; Garmendia, Iñaki

    2015-03-01

    The design of the thermal control system of space vehicles, needed to maintain the equipment components into their admissible range of temperatures, is usually developed by means of thermal mathematical models. These thermal mathematical models need to be correlated with the equipment real behavior registered during the thermal test campaign, in order to adapt them to the real state of the vehicle "as built". The correlation of this type of mathematical models is a very complex task, usually based on manual procedures, which requires a big effort in time and cost. For this reason, the development of methodologies able to perform this correlation automatically, would be a key aspect in the improvement of the space vehicles thermal control design and validation. The implementation, study and validation of a genetic algorithm able to perform this type of correlation in an automatized way are presented in this paper. The study and validation of the algorithm have been performed based on a simplified model of a real space instrument. The algorithm is able to correlate thermal mathematical models in steady state and transient analyses, and it is also able to perform the simultaneous correlation of several cases, as for example hot and cold cases.

  20. Rapid evolution of the intersexual genetic correlation for fitness in Drosophila melanogaster.

    Science.gov (United States)

    Collet, Julie M; Fuentes, Sara; Hesketh, Jack; Hill, Mark S; Innocenti, Paolo; Morrow, Edward H; Fowler, Kevin; Reuter, Max

    2016-04-01

    Sexual antagonism (SA) arises when male and female phenotypes are under opposing selection, yet genetically correlated. Until resolved, antagonism limits evolution toward optimal sex-specific phenotypes. Despite its importance for sex-specific adaptation and existing theory, the dynamics of SA resolution are not well understood empirically. Here, we present data from Drosophila melanogaster, compatible with a resolution of SA. We compared two independent replicates of the "LHM " population in which SA had previously been described. Both had been maintained under identical, controlled conditions, and separated for around 200 generations. Although heritabilities of male and female fitness were similar, the intersexual genetic correlation differed significantly, being negative in one replicate (indicating SA) but close to zero in the other. Using population sequencing, we show that phenotypic differences were associated with population divergence in allele frequencies at nonrandom loci across the genome. Large frequency changes were more prevalent in the population without SA and were enriched at loci mapping to genes previously shown to have sexually antagonistic relationships between expression and fitness. Our data suggest that rapid evolution toward SA resolution has occurred in one of the populations and open avenues toward studying the genetics of SA and its resolution.

  1. Few genetic and environmental correlations between life history and stress resistance traits affect adaptation to fluctuating thermal regimes.

    Science.gov (United States)

    Manenti, T; Sørensen, J G; Moghadam, N N; Loeschcke, V

    2016-09-01

    Laboratory selection in thermal regimes that differed in the amplitude and the predictability of daily fluctuations had a marked effect on stress resistance and life history traits in Drosophila simulans. The observed evolutionary changes are expected to be the result of both direct and correlated responses to selection. Thus, a given trait might not evolve independently from other traits because of genetic correlations among these traits. Moreover, different test environments can induce novel genetic correlations because of the activation of environmentally dependent genes. To test whether and how genetic correlations among stress resistance and life history traits constrain evolutionary adaptation, we used three populations of D. simulans selected for 20 generations in constant, predictable and unpredictable daily fluctuating thermal regimes and tested each of these selected populations in the same three thermal regimes. We explored the relationship between genetic correlations between traits and the evolutionary potential of D. simulans by comparing genetic correlation matrices in flies selected and tested in different thermal test regimes. We observed genetic correlations mainly between productivity, body size, starvation and desiccation tolerance, suggesting that adaptation to the three thermal regimes was affected by correlations between these traits. We also found that the correlations between some traits such as body size and productivity or starvation tolerance and productivity were determined by test regime rather than selection regime that is expected to limit genetic adaptation to thermal regimes in these traits. The results of this study suggest that several traits and several environments are needed to explore adaptive responses, as genetic and environmentally induced correlations between traits as results obtained in one environment cannot be used to predict the response of the same population in another environment.

  2. Genetic correlation between current circulating H1N1 swine and human influenza viruses.

    Science.gov (United States)

    Lu, Lu; Yin, Yanbo; Sun, Zhongsheng; Gao, Lei; Gao, George F; Liu, Sidang; Sun, Lei; Liu, Wenjun

    2010-11-01

    H1N1 is the main subtype influenza A virus circulating in human and swine population, and has long been a threat to economy and public health. To explore the genetic correlation between current circulating H1N1 swine and human influenza viruses. Three new H1N1 swine influenza viruses (SIVs) were isolated and genomes sequencing were conducted followed by phylogenetic and molecular analysis of all swine and human H1N1 influenza viruses isolated in China in the past five years. Homology and phylogenetic analysis revealed that the three isolates possessed different characteristics: the genome of A/Swine/Shandong/1112/2008 was closely related to that of classical H1N1 SIV, while A/Swine/Shandong/1123/2008 was a reassortant with NS gene from the human-like H3N2 influenza virus and other genes from the classical H1N1 SIV, and A/Swine/Fujian/0325/2008 fell into a lineage of seasonal human H1N1 influenza viruses. Genetically, 2009 H1N1 influenza A viruses (2009 H1N1) in China were contiguous to the SIV lineages rather than the seasonal H1N1 human influenza virus's lineage. Furthermore, molecular analysis among human and swine influenza viruses provided more detail information for understanding their genetic correlation. These results suggested that in China in the past five years, the classical, avian-like and human-like H1N1 SIV existed in swine herds and the reassortment between H1N1 swine and H3N2 human influenza viruses was identified. In addition, the present data showed no evidence to support a strong correlation between the 2009 H1N1 and the swine influenza virus circulating in China. Copyright © 2010 Elsevier B.V. All rights reserved.

  3. Beliefs in genetic determinism and attitudes towards psychiatric genetic research: psychometric scale properties, construct associations, demographic correlates, and cross-cultural comparisons.

    Science.gov (United States)

    Voracek, Martin; Swami, Viren; Loibl, Lisa Mariella; Furnham, Adrian

    2007-12-01

    Using two new scales, this study examined beliefs in genetic determinism and attitudes towards psychiatric genetic research in student samples from Austria, Malaysia, Romania, and the United Kingdom. For both constructs, effects of culture were detectable, whereas those related to key demographics were either small and inconsistent across samples (political orientation and religiosity) or zero (sex and age). Judged from factorial dimensionality and internal consistency, the psychometric properties of both scales were satisfactory. Belief in genetic determinism had lower prevalence and corresponded only modestly to positive attitudes towards psychiatric genetic research which had higher prevalence. The correlations of both constructs with a preference of inequality among social groups (social dominance orientation) were modest and inconsistent across samples. Both scales appear appropriate for cross-cultural applications, in particular for research into lay theories and public perceptions regarding genetic vs environmental effects on human behavior, mental disorders, and behavioral and psychiatric genetic research related to these.

  4. Cooperativity Leads to Temporally-Correlated Fluctuations in the Bacteriophage Lambda Genetic Switch

    Directory of Open Access Journals (Sweden)

    Jacob Quinn Shenker

    2015-04-01

    Full Text Available Cooperative interactions are widespread in biochemical networks, providing the nonlinear response that underlies behavior such as ultrasensitivity and robust switching. We introduce a temporal correlation function—the conditional activity—to study the behavior of these phenomena. Applying it to the bistable genetic switch in bacteriophage lambda, we find that cooperative binding between binding sites on the prophage DNA lead to non-Markovian behavior, as quantified by the conditional activity. Previously, the conditional activity has been used to predict allosteric pathways in proteins; here, we show that it identifies the rare unbinding events which underlie induction from lysogeny to lysis.

  5. Direct Correlation of Cell Toxicity to Conformational Ensembles of Genetic Aβ Variants

    DEFF Research Database (Denmark)

    Somavarapu, Arun Kumar; Kepp, Kasper Planeta

    2015-01-01

    We report a systematic analysis of conformational ensembles generated from multiseed molecular dynamics simulations of all 15 known genetic variants of Aβ42. We show that experimentally determined variant toxicities are largely explained by random coil content of the amyloid ensembles (correlation......, are fundamentally related to neurodegeneration. The data provide molecular explanations for the high toxicity of E22 variants and for the protective features of the recently characterized A2T variant. The identified conformational features, for example, the local helix-coil-strand transitions of the C...

  6. Genetic correlation patterns between somatic cell score and protein yield in the Italian Holstein-Friesian Population

    NARCIS (Netherlands)

    Samore, A.; Groen, A.F.; Boettcher, P.; Jamrozik, J.; Canavesi, F.; Bagnato, A.

    2008-01-01

    Genetic parameters for somatic cell score (SCS) in the Italian Holstein-Friesian population were estimated addressing the pattern of genetic correlation with protein yield in different parities (first, second, and third) and on different days in milk within each parity. Three approaches for

  7. Estimating genetic covariance functions assuming a parametric correlation structure for environmental effects

    Directory of Open Access Journals (Sweden)

    Meyer Karin

    2001-11-01

    Full Text Available Abstract A random regression model for the analysis of "repeated" records in animal breeding is described which combines a random regression approach for additive genetic and other random effects with the assumption of a parametric correlation structure for within animal covariances. Both stationary and non-stationary correlation models involving a small number of parameters are considered. Heterogeneity in within animal variances is modelled through polynomial variance functions. Estimation of parameters describing the dispersion structure of such model by restricted maximum likelihood via an "average information" algorithm is outlined. An application to mature weight records of beef cow is given, and results are contrasted to those from analyses fitting sets of random regression coefficients for permanent environmental effects.

  8. Correlated genetic and ecological diversification in a widespread southern African horseshoe bat.

    Directory of Open Access Journals (Sweden)

    Samantha Stoffberg

    Full Text Available The analysis of molecular data within a historical biogeographical framework, coupled with ecological characteristics can provide insight into the processes driving diversification. Here we assess the genetic and ecological diversity within a widespread horseshoe bat Rhinolophus clivosus sensu lato with specific emphasis on the southern African representatives which, although not currently recognized, were previously described as a separate species R. geoffroyi comprising four subspecies. Sequence divergence estimates of the mtDNA control region show that the southern African representatives of R. clivosus s.l. are as distinct from samples further north in Africa than they are from R. ferrumequinum, the sister-species to R. clivosus. Within South Africa, five genetically supported geographic groups exist and these groups are corroborated by echolocation and wing morphology data. The groups loosely correspond to the distributions of the previously defined subspecies and Maxent modelling shows a strong correlation between the detected groups and ecoregions. Based on molecular clock calibrations, it is evident that climatic cycling and related vegetation changes during the Quaternary may have facilitated diversification both genetically and ecologically.

  9. Physical mapping of 49 microsatellite markers on chromosome 19 and correlation with the genetic linkage map

    Energy Technology Data Exchange (ETDEWEB)

    Reguigne-Arnould, I.; Mollicone, R.; Candelier, J.J. [INSERM, Villejuif (France)] [and others

    1996-03-05

    We have regionally localized 49 microsatellite markers developed by Genethon using a panel of previously characterized somatic cell hybrids that retain fragments from chromosome 19. The tight correlation observed between the physical and the genetic orders of the microsatellites provide cytogenetic anchorages to the genetic map data. We propose a position for the centromere just above D19S415, from the study of two hybrids, each of which retains one of the two derivatives of a balanced translocation t(1;19)(q11;q11). Microsatellites, which can be identified by a standard PCR protocol, are useful tools for the localization of disease genes and for the establishment of YAC or cosmid contigs. These markers can also judiciously be used for the characterization of new hybrid cell line panels. We report such a characterization of 11 clones, 8 of which were obtained by irradiation-fusion. Using the whole hybrid panel, we were able to define the order of 12 pairs of genetically colocalized microsatellites. As examples of gene mapping by the combined use of microsatellites and hybrid cell lines, we regionally assigned the PVS locus between the 19q13.2 markers D19S417 and D19S423 and confirmed the locations of fucosyltransferase loci FUT1, FUT2, and FUT5. 13 refs., 1 fig.

  10. Correlated genetic and ecological diversification in a widespread southern African horseshoe bat.

    Science.gov (United States)

    Stoffberg, Samantha; Schoeman, M Corrie; Matthee, Conrad A

    2012-01-01

    The analysis of molecular data within a historical biogeographical framework, coupled with ecological characteristics can provide insight into the processes driving diversification. Here we assess the genetic and ecological diversity within a widespread horseshoe bat Rhinolophus clivosus sensu lato with specific emphasis on the southern African representatives which, although not currently recognized, were previously described as a separate species R. geoffroyi comprising four subspecies. Sequence divergence estimates of the mtDNA control region show that the southern African representatives of R. clivosus s.l. are as distinct from samples further north in Africa than they are from R. ferrumequinum, the sister-species to R. clivosus. Within South Africa, five genetically supported geographic groups exist and these groups are corroborated by echolocation and wing morphology data. The groups loosely correspond to the distributions of the previously defined subspecies and Maxent modelling shows a strong correlation between the detected groups and ecoregions. Based on molecular clock calibrations, it is evident that climatic cycling and related vegetation changes during the Quaternary may have facilitated diversification both genetically and ecologically.

  11. Genetic Correlations Greatly Increase Mutational Robustness and Can Both Reduce and Enhance Evolvability.

    Directory of Open Access Journals (Sweden)

    Sam F Greenbury

    2016-03-01

    Full Text Available Mutational neighbourhoods in genotype-phenotype (GP maps are widely believed to be more likely to share characteristics than expected from random chance. Such genetic correlations should strongly influence evolutionary dynamics. We explore and quantify these intuitions by comparing three GP maps-a model for RNA secondary structure, the HP model for protein tertiary structure, and the Polyomino model for protein quaternary structure-to a simple random null model that maintains the number of genotypes mapping to each phenotype, but assigns genotypes randomly. The mutational neighbourhood of a genotype in these GP maps is much more likely to contain genotypes mapping to the same phenotype than in the random null model. Such neutral correlations can be quantified by the robustness to mutations, which can be many orders of magnitude larger than that of the null model, and crucially, above the critical threshold for the formation of large neutral networks of mutationally connected genotypes which enhance the capacity for the exploration of phenotypic novelty. Thus neutral correlations increase evolvability. We also study non-neutral correlations: Compared to the null model, i If a particular (non-neutral phenotype is found once in the 1-mutation neighbourhood of a genotype, then the chance of finding that phenotype multiple times in this neighbourhood is larger than expected; ii If two genotypes are connected by a single neutral mutation, then their respective non-neutral 1-mutation neighbourhoods are more likely to be similar; iii If a genotype maps to a folding or self-assembling phenotype, then its non-neutral neighbours are less likely to be a potentially deleterious non-folding or non-assembling phenotype. Non-neutral correlations of type i and ii reduce the rate at which new phenotypes can be found by neutral exploration, and so may diminish evolvability, while non-neutral correlations of type iii may instead facilitate evolutionary exploration

  12. Genetic Correlations Greatly Increase Mutational Robustness and Can Both Reduce and Enhance Evolvability.

    Science.gov (United States)

    Greenbury, Sam F; Schaper, Steffen; Ahnert, Sebastian E; Louis, Ard A

    2016-03-01

    Mutational neighbourhoods in genotype-phenotype (GP) maps are widely believed to be more likely to share characteristics than expected from random chance. Such genetic correlations should strongly influence evolutionary dynamics. We explore and quantify these intuitions by comparing three GP maps-a model for RNA secondary structure, the HP model for protein tertiary structure, and the Polyomino model for protein quaternary structure-to a simple random null model that maintains the number of genotypes mapping to each phenotype, but assigns genotypes randomly. The mutational neighbourhood of a genotype in these GP maps is much more likely to contain genotypes mapping to the same phenotype than in the random null model. Such neutral correlations can be quantified by the robustness to mutations, which can be many orders of magnitude larger than that of the null model, and crucially, above the critical threshold for the formation of large neutral networks of mutationally connected genotypes which enhance the capacity for the exploration of phenotypic novelty. Thus neutral correlations increase evolvability. We also study non-neutral correlations: Compared to the null model, i) If a particular (non-neutral) phenotype is found once in the 1-mutation neighbourhood of a genotype, then the chance of finding that phenotype multiple times in this neighbourhood is larger than expected; ii) If two genotypes are connected by a single neutral mutation, then their respective non-neutral 1-mutation neighbourhoods are more likely to be similar; iii) If a genotype maps to a folding or self-assembling phenotype, then its non-neutral neighbours are less likely to be a potentially deleterious non-folding or non-assembling phenotype. Non-neutral correlations of type i) and ii) reduce the rate at which new phenotypes can be found by neutral exploration, and so may diminish evolvability, while non-neutral correlations of type iii) may instead facilitate evolutionary exploration and so

  13. Habitat adaptation rather than genetic distance correlates with female preference in fire salamanders (Salamandra salamandra

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    Weitere Markus

    2009-06-01

    Full Text Available Abstract Background Although some mechanisms of habitat adaptation of conspecific populations have been recently elucidated, the evolution of female preference has rarely been addressed as a force driving habitat adaptation in natural settings. Habitat adaptation of fire salamanders (Salamandra salamandra, as found in Middle Europe (Germany, can be framed in an explicit phylogeographic framework that allows for the evolution of habitat adaptation between distinct populations to be traced. Typically, females of S. salamandra only deposit their larvae in small permanent streams. However, some populations of the western post-glacial recolonization lineage use small temporary ponds as larval habitats. Pond larvae display several habitat-specific adaptations that are absent in stream-adapted larvae. We conducted mate preference tests with females from three distinct German populations in order to determine the influence of habitat adaptation versus neutral genetic distance on female mate choice. Two populations that we tested belong to the western post-glacial recolonization group, but are adapted to either stream or pond habitats. The third population is adapted to streams but represents the eastern recolonization lineage. Results Despite large genetic distances with FST values around 0.5, the stream-adapted females preferred males from the same habitat type regardless of genetic distance. Conversely, pond-adapted females did not prefer males from their own population when compared to stream-adapted individuals of either lineage. Conclusion A comparative analysis of our data showed that habitat adaptation rather than neutral genetic distance correlates with female preference in these salamanders, and that habitat-dependent female preference of a specific pond-reproducing population may have been lost during adaptation to the novel environmental conditions of ponds.

  14. Heritabilities and genetic correlations of body weights and feather length in growing Muscovy selected in Taiwan.

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    Hu, Y H; Poivey, J P; Rouvier, R; Wang, C T; Tai, C

    1999-12-01

    1. Heritabilities and genetic correlations in the base population of a closed strain of Muscovy duck, moderately selected for body weight at 10 weeks of age, have been estimated from the data of 9 successive generations for the following traits: male and female body weight at 10 and 18 weeks of age (BW10m, BW18m, BW10f, BW18f) and length of the 8th primary feather at 10 weeks of age (F110m, F110f). 2. Multivariate REML with an animal model was used, pooling data from the 9 generations (3283 and 3289 male and female offspring respectively). The same trait expressed in male and female was considered as 2 different traits. 3. The 8th primary feather was longer in females than in males by 6% to 22% at 10 weeks of age. Body weight was heavier in males than in females by 42% to 58% at 10 weeks of age and by 57% to 75% at 18 weeks of age. 3. The heritability estimates for body weight traits showed moderate values, being a little higher for females than for males at the same age, increasing with age from h2=0.24 at BW10m to h2=0.43 at BW18f. 4. The heritability estimates for feather length showed that a greater response would be obtained in selection for male feather length (h2=0.37) than for female length (h2=0.14). Both have high genetic correlations with body weight so they could be indirectly improved. 5. Heritabilities of the difference in body weights between males and females at 10 weeks (h2=0.07) and 18 weeks of age (h2=0.10) were small, as well as for feather length (h2=0.10). It would probably be difficult to modify sexual dimorphism in body weight through selection. 6. Genetic correlations between BW10m, BW18m and BW10f, BW18f were respectively r(g)=0.77 and r(g)=0.80. They were larger for body weight at the same ages between males and females, r(g)=0.90 (r(g)=0.88 between F110m and F110f). Body weight in males and females at the same age should be better considered as 2 different traits in a selection programme. 7. The cumulated predicted genetic gains

  15. Cross-correlation of bio-signals using continuous wavelet transform and genetic algorithm.

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    Sukiennik, Piotr; Białasiewicz, Jan T

    2015-05-30

    Continuous wavelet transform allows to obtain time-frequency representation of a signal and analyze short-lived temporal interaction of concurrent processes. That offers good localization in both time and frequency domain. Scalogram and coscalogram analysis of two signal interaction dynamics gives an indication of the cross-correlation of analyzed signals in both domains. We have used genetic algorithm with a fitness function based on signals convolution to find time delay between investigated signals. Two methods of cross-correlation are proposed: one that finds single delay for analyzed signals, and one returns a vector of delay values for each of wavelet transform sub-band center frequencies. Algorithms were implemented using MATLAB. We have extracted the data of simultaneously recorded encephalogram and arterial blood pressure and have investigated their interaction dynamics. We found time delay whose value cannot be precisely determined by scalograms and coscalogram inspection. The biomedical signals used come from MIMIC database. Cross-correlation of two complex signals is commonly performed using fast Fourier transform. It works well for signals with invariant frequency content. We have determined the time delay between analyzed signals using wavelet scalograms and we have accordingly shifted one of them, aligning associated events. Their coscalogram indicates the cross-correlation of the associated events. Introducing new methods of wavelet transform in cross-correlation analysis has proven to be beneficial to the gain of the information about process interaction. Introduced solutions could be used to reason about causality between processes and gain bigger insight regarding analyzed systems. Copyright © 2015 Elsevier B.V. All rights reserved.

  16. Low cross-sex genetic correlation in carotenoid-based plumage traits in the blue tit nestlings (Cyanistes caeruleus.

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    Szymon M Drobniak

    Full Text Available In some bird species, both adult and juvenile individuals are often brightly coloured. It has been commonly assumed that identical plumage colouration present in both sexes results from strong intersexual genetic correlations in colour-related traits. Here, we aimed at testing this hypothesis in juvenile individuals and looked at genetic parameters describing carotenoid-based colouration of blue tit nestlings in a wild population. To separate genetic and environmental sources of phenotypic variation we performed a cross-fostering experiment. Our analyses confirmed the existence of sexual dichromatism in blue tit nestlings and revealed a significant, although low, genetic component of carotenoid-based colouration. However, genetic effects are expressed differently across sexes as indicated by low cross-sex genetic correlations (rmf. Thus our results do not support the prediction of generally high rmf and suggest that intersexual constraints on the evolution of colouration traits may be weaker than expected. We hypothesise that observed patterns of genetic correlations result from sex-specific selective pressures acting on nestling plumage colouration.

  17. Genetic correlations between pathogen-specific mastitis and somatic cell count in Danish Holsteins

    DEFF Research Database (Denmark)

    Sørensen, Lars Peter; Mark, Thomas; Madsen, P.;

    2009-01-01

    _170) or 300 d (LASCC_300) after calving, and the mastitis traits were unspecific mastitis (all mastitis treatments, both clinical and subclinical, regardless of the causative pathogen) and mastitis caused by either Streptococcus dysgalactiae, Escherichia coli, coagulase-negative staphylococci (CNS......, especially for Strep. uberis, Strep. dysgalactiae, and CNS and, to a lesser extent, for Staph. aureus and E. coli. Data recording should preferably be improved, and economic weights for the pathogen-specific mastitis traits should be estimated before implementing an udder health index that includes pathogen....... uberis, and E. coli (r(a) = 0.54 to 0.69) and were lowest for Staph. aureus mastitis (r(a) = 0.44). The genetic correlation between LASCC_300 and the mastitis traits were generally smaller (r(a) = 0.47 to 0.69). Caution should be taken when interpreting the results, however, because some posterior...

  18. Correlated genetic effects on reproduction define a domestication syndrome in a forest tree.

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    Santos-Del-Blanco, Luis; Alía, Ricardo; González-Martínez, Santiago C; Sampedro, Luis; Lario, Francisco; Climent, José

    2015-04-01

    Compared to natural selection, domestication implies a dramatic change in traits linked to fitness. A number of traits conferring fitness in the wild might be detrimental under domestication, and domesticated species typically differ from their ancestors in a set of traits known as the domestication syndrome. Specifically, trade-offs between growth and reproduction are well established across the tree of life. According to allocation theory, selection for growth rate is expected to indirectly alter life-history reproductive traits, diverting resources from reproduction to growth. Here we tested this hypothesis by examining the genetic change and correlated responses of reproductive traits as a result of selection for timber yield in the tree Pinus pinaster. Phenotypic selection was carried out in a natural population, and progenies from selected trees were compared with those of control trees in a common garden experiment. According to expectations, we detected a genetic change in important life-history traits due to selection. Specifically, threshold sizes for reproduction were much higher and reproductive investment relative to size significantly lower in the selected progenies just after a single artificial selection event. Our study helps to define the domestication syndrome in exploited forest trees and shows that changes affecting developmental pathways are relevant in domestication processes of long-lived plants.

  19. [Genetic variance of duck preproinsulin gene and its correlations to the traits of carcasses].

    Science.gov (United States)

    Kong, Xiang-Jie; Liu, Xiao-Lin; Wu, Yan; Wang, Jie

    2008-06-01

    Genetic polymorphisms of exon 2 and partial intron of preproinsulin gene were studied in Peking duck and Cherry Valley duck by PCR-SSCP and DNA sequencing technologies. Two single nucleotide mutations, T179C and C195T, were found, respectively. chi2 test reflects that the tested population of Peking duck and Cherry Valley duck were in the Hardy-Weinberg equilibrium state (P>0.05). The relationships between SNPs and the traits of carcasses were analyzed by the least square analysis, which showed that the genotype BB in three lines of Peking duck was significantly higher in carcass weight, carcass net weight and breast muscle weight than AA and BB (P<0.01) and significantly higher in leg muscle weight and sebum weight than AB (P<0.01). In addition, the genotype AA was significantly greater than AB in sebum rate (P<0.01) and carcass net weight (P<0.05), respectively. However, for Cherry Valley duck, only the genotype AB was significantly higher than AA in sebum weight and abdomen fat weight (P<0.05). The results indicated that there was significant correlation between the genetic polymorphisms of preproinsulin gene and the traits of duck carcasses and the allele B was valuable for increasing the carcass weight and breast muscle weight.

  20. Soil properties drive a negative correlation between species diversity and genetic diversity in a tropical seasonal rainforest.

    Science.gov (United States)

    Xu, Wumei; Liu, Lu; He, Tianhua; Cao, Min; Sha, Liqing; Hu, Yuehua; Li, Qiaoming; Li, Jie

    2016-02-10

    A negative species-genetic diversity correlation (SGDC) could be predicted by the niche variation hypothesis, whereby an increase in species diversity within community reduces the genetic diversity of the co-occurring species because of the reduction in average niche breadth; alternatively, competition could reduce effective population size and therefore genetic diversity of the species within community. We tested these predictions within a 20 ha tropical forest dynamics plot (FDP) in the Xishuangbanna tropical seasonal rainforest. We established 15 plots within the FDP and investigated the soil properties, tree diversity, and genetic diversity of a common tree species Beilschmiedia roxburghiana within each plot. We observed a significant negative correlation between tree diversity and the genetic diversity of B. roxburghiana within the communities. Using structural equation modeling, we further determined that the inter-plot environmental characteristics (soil pH and phosphorus availability) directly affected tree diversity and that the tree diversity within the community determined the genetic diversity of B. roxburghiana. Increased soil pH and phosphorus availability might promote the coexistence of more tree species within community and reduce genetic diversity of B. roxburghiana for the reduced average niche breadth; alternatively, competition could reduce effective population size and therefore genetic diversity of B. roxburghiana within community.

  1. GENETIC CORRELATIONS BETWEEN BEHAVIOURAL RESPONSES AND PERFORMANCE TRAITS IN LAYING HENS.

    Science.gov (United States)

    Rozempolska-Rucińska, Iwona; Zięba, Grzegorz; Kibała, Lucyna; Próchniak, Tomasz Paweł; Łukaszewicz, Marek

    2017-02-23

    The aim of the study was to evaluate genetic correlations between the behavioural profile and performance in laying hens as an indirect answer to the question whether the observed behavioural responses are associated with increased levels of stress in these birds. The assessment of birds' temperament was carried out using the Novel Objects Test. The behavioural test was conducted in two successive generations comprising 9483 Rhode Island White birds (approx. 4700 individuals per generation) and 4326 Rhode Island Red birds (approx. 2100 individuals per generation). Based on the recorded responses, the birds were divided into two groups: a fearful profile (1418 RIW hens and 580 RIR hens) and a brave/curious profile (8065 RIW hens and 3746 RIR hens). The birds were subjected to standard assessment of their performance traits, including SM- age at sexual maturity, ST - shell thickness, SG - egg specific gravity, EW - mean egg weight, IP - initial egg production, and PW/HC - number of hatched chicks. The lineage comprised a three-generation population of birds. Estimation of the components of variance of the behavioural traits was performed with Gibbs sampling (300000 rounds with 100000 burn-in rounds) based on the multi-trait animal model. The analyses revealed negative correlations between the performance traits of the laying hens and the behavioural profile defined as fearful. In the group of fearful RIW birds, delayed sexual maturation (0,22) as well as a decrease in the initial egg production (-0,30), egg weight (-0,54), egg specific gravity (-0,331), shell thickness (-0,11), and the number of hatched chicks (-0,24) could be expected. These correlations were less pronounced in the RIR breed, in which the fearful birds exhibited a decline in hatchability (-0,37), egg specific gravity (-0,11), and the number of hatched chicks (-0,18). There were no correlations in the case of the other traits or they were positive but exhibited a substantial standard error, as for

  2. A Continuous Correlated Beta Process Model for Genetic Ancestry in Admixed Populations.

    Science.gov (United States)

    Gompert, Zachariah

    2016-01-01

    Admixture and recombination create populations and genomes with genetic ancestry from multiple source populations. Analyses of genetic ancestry in admixed populations are relevant for trait and disease mapping, studies of speciation, and conservation efforts. Consequently, many methods have been developed to infer genome-average ancestry and to deconvolute ancestry into continuous local ancestry blocks or tracts within individuals. Current methods for local ancestry inference perform well when admixture occurred recently or hybridization is ongoing, or when admixture occurred in the distant past such that local ancestry blocks have fixed in the admixed population. However, methods to infer local ancestry frequencies in isolated admixed populations still segregating for ancestry do not exist. In the current paper, I develop and test a continuous correlated beta process model to fill this analytical gap. The method explicitly models autocorrelations in ancestry frequencies at the population-level and uses discriminant analysis of SNP windows to take advantage of ancestry blocks within individuals. Analyses of simulated data sets show that the method is generally accurate such that ancestry frequency estimates exhibited low root-mean-square error and were highly correlated with the true values, particularly when large (±10 or ±20) SNP windows were used. Along these lines, the proposed method outperformed post hoc inference of ancestry frequencies from a traditional hidden Markov model (i.e., the linkage model in structure), particularly when admixture occurred more distantly in the past with little on-going gene flow or was followed by natural selection. The reliability and utility of the method was further assessed by analyzing genetic ancestry in an admixed human population (Uyghur) and three populations from a hybrid zone between Mus domesticus and M. musculus. Considerable variation in ancestry frequencies was detected within and among chromosomes in the Uyghur

  3. Estimates of genetic parameters for visual scores and their correlation with production and reproductive traits in Brahman cattle

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    Tássia Souza Bertipaglia

    2012-06-01

    Full Text Available The objective of this study was to evaluate the association of visual scores of body structure, precocity and muscularity with production (body weight at 18 months and average daily gain and reproductive (scrotal circumference traits in Brahman cattle in order to determine the possible use of these scores as selection criteria to improve carcass quality. Covariance components were estimated by the restricted maximum likelihood method using an animal model that included contemporary group as fixed effect. A total of 1,116 observations of body structure, precocity and muscularity were used. Heritability was 0.39, 043 and 0.40 for body structure, precocity and muscularity, respectively. The genetic correlations were 0.79 between body structure and precocity, 0.87 between body structure and muscularity, and 0.91 between precocity and muscularity. The genetic correlations between visual scores and body weight at 18 months were positive (0.77, 0.57 and 0.59 for body structure, precocity and muscularity, respectively. Similar genetic correlations were observed between average daily gain and visual scores (0.60, 0.57 and 0.48, respectively, whereas the genetic correlations between scrotal circumference and these scores were low (0.13, 0.02, and 0.13. The results indicate that visual scores can be used as selection criteria in Brahman breeding programs. Favorable correlated responses should be seen in average daily gain and body weight at 18 months. However, no correlated response is expected for scrotal circumference.

  4. Correlations between BDNF genetic polymorphism and postpartum depression in cesarean section parturient

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    Ying-yong ZHOU

    2017-08-01

    Full Text Available Objective To study the correlations between the genetic polymorphism of brain-derived neurotrophic factor (BDNF and the postpartum depression (PPD in cesarean section parturient. Methods Three hundred and sixty parturients, who underwent cesarean section under spinal anesthesia from Feb. 2014 to Feb. 2015 in Third Xiangya Hospital of Central South University or Hunan Maternal and Child Health Hospital, were selected as subjects. The general information of parturients was recorded and Edinburgh Postnatal Depression Scale (EPDS was used to evaluate the depression condition of parturients at the prenatal 1 day and the 42th day postpartum, and with a cut-off point of 12/13 for identifying PPD. The genotypes of BDNF gene locus G712A, rs56164415, rs11030100, rs11030101 and rs6265 were measured by Sequenom® Mass Array SNP. Finally, the correlations of PPD to different genotypes and general information of parturients were statistically analyzed. Results The incidence of PPD among the selected subjects was 7.2%. Pregnancy mental stress, poor pregnancy mood, perinatal elevated monocyte count, prenatal depression mood and BDNF gene locus rs6265 mutation all could affect the incidence of PPD in cesarean section parturients (P0.05, and their haploid forms were not related to PPD also. Conclusion BDNF rs6265CC genotype, pregnancy mental stress, poor pregnancy mood, perinatal elevated monocyte count and prenatal depression mood are the risk factors for postpartum depression. DOI: 10.11855/j.issn.0577-7402.2017.06.11

  5. Genetic correlation between rheumatoid arthritis and periodontal disease: the role of sex and IL-10.

    Science.gov (United States)

    Azzi, L; Rania, S; Spadari, F; Vinci, R; Manfredini, M; Croveri, F; Boggio, A; Tettamanti, L; Tagliabue, A; Silvestre-Rangil, J; Bellintani, C

    2017-01-01

    The chronic stimulation of the immune system due to the presence of bacterial antigens within periodontal tissues has been associated with several autoimmune diseases, like diabetes mellitus, infective endocarditis or cardiovascular atherosclerosis. The current study aims at evaluating the correlation between Rheumatoid Arthritis (RA) and Periodontal Disease (PD) with special attention to genetic polymorphisms in cytokine expression. A total number of 34 patients affected by RA were recruited. Each of them underwent haematochemical analysis and data were collected for Rheumatoid Factor (RF), Anti-Citrullinated Protein’s Antibody (CCP) and HLA-BDR1. DAS-28 questionnaire for disease activity was fulfilled by the rheumatologist, while a periodontal examination was carried out by the dental clinician and crevicular fluid samples were collected to evaluate the IL-6, IL-10 and VDR polymorphysms. A connection between CCP and IL-10 polymorphisms was found, with IL-10 expressing protecting tendency against periodontal disease when CCP are found in the bloodstream (p=0.0017). Finally, males mainly expressed IL-10 predisposing genes (p=0.046), while females showed a greater tendency to express RF (p=0.014) and CCP (p=0.050). This paper corroborates the idea of a correlation between sex, IL-10 polymorphisms and RA, which should be studied in depth, since recent papers have shown that IL-10 injected into joints seems to decrease inflammation.

  6. Psychopathic personality traits and environmental contexts: Differential correlates, gender differences, and genetic mediation.

    Science.gov (United States)

    Hicks, Brian M; Carlson, Marie D; Blonigen, Daniel M; Patrick, Christopher J; Iacono, William G; Mgue, Matt

    2012-07-01

    Theorists have speculated that primary psychopathy (or Factor 1 affective-interpersonal features) is prominently heritable whereas secondary psychopathy (or Factor 2 social deviance) is more environmentally determined. We tested this differential heritability hypothesis using a large adolescent twin sample. Trait-based proxies of primary and secondary psychopathic tendencies were assessed using Multidimensional Personality Questionnaire (MPQ) estimates of Fearless Dominance and Impulsive Antisociality, respectively. The environmental contexts of family, school, peers, and stressful life events were assessed using multiple raters and methods. Consistent with prior research, MPQ Impulsive Antisociality was robustly associated with each environmental risk factor, and these associations were significantly greater than those for MPQ Fearless Dominance. However, MPQ Fearless Dominance and Impulsive Antisociality exhibited similar heritability, and genetic effects mediated the associations between MPQ Impulsive Antisociality and the environmental measures. Results were largely consistent across male and female twins. We conclude that gene-environment correlations rather than main effects of genes and environments account for the differential environmental correlates of primary and secondary psychopathy.

  7. Correlation among genetic, Euclidean, temporal, and herd ownership distances of porcine reproductive and respiratory syndrome virus strains in Quebec, Canada

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    Lambert Marie-Ève

    2012-06-01

    Full Text Available Abstract Background Porcine reproductive and respiratory syndrome (PRRS is a viral disease that has a major economic impact for the swine industry. Its control is mostly directed towards preventing its spread which requires a better understanding of the mechanisms of transmission of the virus between herds. The objectives of this study were to describe the genetic diversity and to assess the correlation among genetic, Euclidean and temporal distances and ownership to better understand pathways of transmission. Results A cross-sectional study was conducted on sites located in a high density area of swine production in Quebec. Geographical coordinates (longitude/latitude, date of submission and ownership were obtained for each site. ORF5 sequencing was attempted on PRRSV positive sites. Proportion of pairwise combinations of strains having ≥98% genetic homology were analysed according to Euclidean distances and ownership. Correlations between genetic, Euclidean and temporal distances and ownership were assessed using Mantel tests on continuous and binary matrices. Sensitivity of the correlations between genetic and Euclidean as well as temporal distances was evaluated for different Euclidean and temporal distance thresholds. An ORF5 sequence was identified for 132 of the 176 (75% PRRSV positive sites; 122 were wild-type strains. The mean (min-max genetic, Euclidean and temporal pairwise distances were 11.6% (0–18.7, 15.0 km (0.04-45.7 and 218 days (0–852, respectively. Significant positive correlations were observed between genetic and ownership, genetic and Euclidean and between genetic and temporal binary distances. The relationship between genetic and ownership suggests either common sources of animals or semen, employees, technical services or vehicles, whereas that between genetic and Euclidean binary distances is compatible with area spread of the virus. The latter correlation was observed only up to 5 km. Conclusions This study

  8. Genetic correlations between male reproductive traits and growth traits in growth performance tested Duroc, Landrace and Yorkshire breed boars.

    Science.gov (United States)

    Chang, Hsiu-Luan; Lai, Yung-Yu; Wu, Ming-Che; Sasaki, Osamu

    2017-02-09

    Male-related traits at 180-225 days of age for 6464 grow-finish performance tested boars were measured from 2000 to 2016. Heritability estimates and genetic correlations among average daily gain, feed efficiency, back fat thickness, teat counts, mounting libido, leg locomotion, penile length, sperm motility, sperm concentration and total sperm counts were estimated by VCE software using a multiple traits animal model in each breed. Growth-tested boars had heritability estimates of male reproductive traits in 0.34-0.56 of teat counts, 0.12-0.20 of libido, 0.08-0.12 of locomotion, 0.17-0.58 of penile length, 0.04-0.21 of sperm motility and concentration, 0.17-0.30 of total sperm counts. Total sperm counts were genetically positively correlated with penile length in all breeds. Boars with higher total sperm counts had genetically better libido and locomotion. Genetic correlation between feed efficiency and sperm motility and feed efficiency and sperm concentration were positive in Duroc and negative in Landrace and Yorkshire. Sperm motility and concentration were genetically negatively correlated with average daily gain in Yorkshire. Male reproductive traits of imported breeds could be improved with care in the change of growth traits, especially in Yorkshire.

  9. Heritability and cross-sex genetic correlations of early-life circulating testosterone levels in a wild mammal.

    Science.gov (United States)

    Pavitt, Alyson T; Walling, Craig A; Pemberton, Josephine M; Kruuk, Loeske E B

    2014-11-01

    Testosterone is an important hormone that has been shown to have sex-specific links to fitness in numerous species. Although testosterone concentrations vary substantially between individuals in a population, little is known about its heritable genetic basis or between-sex genetic correlations that determine its evolutionary potential. We found circulating neonatal testosterone levels to be both heritable (0.160 ± 0.064 s.e.) and correlated between the sexes (0.942 ± 0.648 s.e.) in wild red deer calves (Cervus elaphus). This may have important evolutionary implications if, as in adults, the sexes have divergent optima for circulating testosterone levels.

  10. Genetic effects and correlations between production and fertility traits and their dependency on the lactation-stage in Holstein Friesians

    Directory of Open Access Journals (Sweden)

    Strucken Eva M

    2012-12-01

    Full Text Available Abstract Background This study focused on the dynamics of genome-wide effects on five milk production and eight fertility traits as well as genetic correlations between the traits. For 2,405 Holstein Friesian bulls, estimated breeding values (EBVs were used. The production traits were additionally assessed in 10-day intervals over the first 60 lactation days, as this stage is physiologically the most crucial time in milk production. Results SNPs significantly affecting the EBVs of the production traits could be separated into three groups according to the development of the size of allele effects over time: 1 increasing effects for all traits; 2 decreasing effects for all traits; and 3 increasing effects for all traits except fat yield. Most of the significant markers were found within 22 haplotypes spanning on average 135,338 bp. The DGAT1 region showed high density of significant markers, and thus, haplotype blocks. Further functional candidate genes are proposed for haplotype blocks of significant SNPs (KLHL8, SICLEC12, AGPAT6 and NID1. Negative genetic correlations were found between yield and fertility traits, whilst content traits showed positive correlations with some fertility traits. Genetic correlations became stronger with progressing lactation. When correlations were estimated within genotype classes, correlations were on average 0.1 units weaker between production and fertility traits when the yield increasing allele was present in the genotype. Conclusions This study provides insight into the expression of genetic effects during early lactation and suggests possible biological explanations for the presented time-dependent effects. Even though only three markers were found with effects on fertility, the direction of genetic correlations within genotype classes between production and fertility traits suggests that alleles increasing the milk production do not affect fertility in a more negative way compared to the decreasing allele.

  11. Erythropoietin in the general population: reference ranges and clinical, biochemical and genetic correlates.

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    Niels Grote Beverborg

    Full Text Available Although erythropoietin has been used for decades in the treatment of anemia, data regarding endogenous levels in the general population are scarce. Therefore, we determined erythropoietin reference ranges and its clinical, biochemical and genetic associations in the general population.We used data from 6,777 subjects enrolled in the Prevention of REnal and Vascular ENd-stage Disease (PREVEND study. Fasting venous blood samples were obtained in the morning from all participants from 2001-2003. Serum erythropoietin concentrations were measured using a fully automated chemiluminescent enzyme-labeled immunometric assay. A genome-wide association study was performed to identify genetic determinants.Mean age (± SD was 53 ± 12 years and 50% were female. Median (IQR erythropoietin concentrations were 7.6 (5.8-9.9 IU/L in men and 7.9 (6.0-10.6 IU/L in women. A strong positive correlation was found between erythropoietin and waist circumference, glucose and systolic blood pressure (all P < 0.05. In subjects with normal renal function there was a strong exponential relation between hemoglobin and erythropoietin, whereas in renal impairment (eGFR < 60 mL/min/1.73m² this relation was linear (men or absent (women (P < 0.001 for interaction. Single-nucleotide polymorphisms at the HBS1L-MYB locus were shown to be related to erythropoietin levels (P < 9x10-21, more significantly than other erythrocyte parameters.We provide age-specific reference ranges for endogenous serum erythropoietin. Erythropoietin levels are positively associated with the components of the metabolic syndrome, except cholesterol. We show that even mild renal failure blunts erythropoietin production and propose the HBS1L-MYB locus as a regulator of erythropoietin.

  12. Immune and Genetic Correlates of Vaccine Protection Against Mucosal Infection by SIV in Monkeys.

    Science.gov (United States)

    Letvin, Norman L; Rao, Srinivas S; Montefiori, David C; Seaman, Michael S; Sun, Yue; Lim, So-Yon; Yeh, Wendy W; Asmal, Mohammed; Gelman, Rebecca S; Shen, Ling; Whitney, James B; Seoighe, Cathal; Lacerda, Miguel; Keating, Sheila; Norris, Philip J; Hudgens, Michael G; Gilbert, Peter B; Buzby, Adam P; Mach, Linh V; Zhang, Jinrong; Balachandran, Harikrishnan; Shaw, George M; Schmidt, Stephen D; Todd, John-Paul; Dodson, Alan; Mascola, John R; Nabel, Gary J

    2011-05-04

    The RV144 vaccine trial in Thailand demonstrated that an HIV vaccine could prevent infection in humans and highlights the importance of understanding protective immunity against HIV. We used a nonhuman primate model to define immune and genetic mechanisms of protection against mucosal infection by the simian immunodeficiency virus (SIV). A plasmid DNA prime/recombinant adenovirus serotype 5 (rAd5) boost vaccine regimen was evaluated for its ability to protect monkeys from infection by SIVmac251 or SIVsmE660 isolates after repeat intrarectal challenges. Although this prime-boost vaccine regimen failed to protect against SIVmac251 infection, 50% of vaccinated monkeys were protected from infection with SIVsmE660. Among SIVsmE660-infected animals, there was about a one-log reduction in peak plasma virus RNA in monkeys expressing the major histocompatibility complex class I allele Mamu-A*01, implicating cytotoxic T lymphocytes in the control of SIV replication once infection is established. Among Mamu-A*01-negative monkeys challenged with SIVsmE660, no CD8(+) T cell response or innate immune response was associated with protection against virus acquisition. However, low levels of neutralizing antibodies and an envelope-specific CD4(+) T cell response were associated with vaccine protection in these monkeys. Moreover, monkeys that expressed two TRIM5 alleles that restrict SIV replication were more likely to be protected from infection than monkeys that expressed at least one permissive TRIM5 allele. This study begins to elucidate the mechanisms of vaccine protection against immunodeficiency viruses and highlights the need to analyze these immune and genetic correlates of protection in future trials of HIV vaccine strategies.

  13. Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis.

    Science.gov (United States)

    Aschard, Hugues; Kang, Jae H; Iglesias, Adriana I; Hysi, Pirro; Cooke Bailey, Jessica N; Khawaja, Anthony P; Allingham, R Rand; Ashley-Koch, Allison; Lee, Richard K; Moroi, Sayoko E; Brilliant, Murray H; Wollstein, Gadi; Schuman, Joel S; Fingert, John H; Budenz, Donald L; Realini, Tony; Gaasterland, Terry; Scott, William K; Singh, Kuldev; Sit, Arthur J; Igo, Robert P; Song, Yeunjoo E; Hark, Lisa; Ritch, Robert; Rhee, Douglas J; Gulati, Vikas; Haven, Shane; Vollrath, Douglas; Zack, Donald J; Medeiros, Felipe; Weinreb, Robert N; Cheng, Ching-Yu; Chasman, Daniel I; Christen, William G; Pericak-Vance, Margaret A; Liu, Yutao; Kraft, Peter; Richards, Julia E; Rosner, Bernard A; Hauser, Michael A; Klaver, Caroline C W; vanDuijn, Cornelia M; Haines, Jonathan; Wiggs, Janey L; Pasquale, Louis R

    2017-08-30

    Primary open-angle glaucoma (POAG) is the most common chronic optic neuropathy worldwide. Epidemiological studies show a robust positive relation between intraocular pressure (IOP) and POAG and modest positive association between IOP and blood pressure (BP), while the relation between BP and POAG is controversial. The International Glaucoma Genetics Consortium (n=27 558), the International Consortium on Blood Pressure (n=69 395), and the National Eye Institute Glaucoma Human Genetics Collaboration Heritable Overall Operational Database (n=37 333), represent genome-wide data sets for IOP, BP traits and POAG, respectively. We formed genome-wide significant variant panels for IOP and diastolic BP and found a strong relation with POAG (odds ratio and 95% confidence interval: 1.18 (1.14-1.21), P=1.8 × 10(-27)) for the former trait but no association for the latter (P=0.93). Next, we used linkage disequilibrium (LD) score regression, to provide genome-wide estimates of correlation between traits without the need for additional phenotyping. We also compared our genome-wide estimate of heritability between IOP and BP to an estimate based solely on direct measures of these traits in the Erasmus Rucphen Family (ERF; n=2519) study using Sequential Oligogenic Linkage Analysis Routines (SOLAR). LD score regression revealed high genetic correlation between IOP and POAG (48.5%, P=2.1 × 10(-5)); however, genetic correlation between IOP and diastolic BP (P=0.86) and between diastolic BP and POAG (P=0.42) were negligible. Using SOLAR in the ERF study, we confirmed the minimal heritability between IOP and diastolic BP (P=0.63). Overall, IOP shares genetic basis with POAG, whereas BP has limited shared genetic correlation with IOP or POAG.European Journal of Human Genetics advance online publication, 30 August 2017; doi:10.1038/ejhg.2017.136.

  14. A genetically encoded tag for correlated light and electron microscopy of intact cells, tissues, and organisms.

    Directory of Open Access Journals (Sweden)

    Xiaokun Shu

    2011-04-01

    Full Text Available Electron microscopy (EM achieves the highest spatial resolution in protein localization, but specific protein EM labeling has lacked generally applicable genetically encoded tags for in situ visualization in cells and tissues. Here we introduce "miniSOG" (for mini Singlet Oxygen Generator, a fluorescent flavoprotein engineered from Arabidopsis phototropin 2. MiniSOG contains 106 amino acids, less than half the size of Green Fluorescent Protein. Illumination of miniSOG generates sufficient singlet oxygen to locally catalyze the polymerization of diaminobenzidine into an osmiophilic reaction product resolvable by EM. MiniSOG fusions to many well-characterized proteins localize correctly in mammalian cells, intact nematodes, and rodents, enabling correlated fluorescence and EM from large volumes of tissue after strong aldehyde fixation, without the need for exogenous ligands, probes, or destructive permeabilizing detergents. MiniSOG permits high quality ultrastructural preservation and 3-dimensional protein localization via electron tomography or serial section block face scanning electron microscopy. EM shows that miniSOG-tagged SynCAM1 is presynaptic in cultured cortical neurons, whereas miniSOG-tagged SynCAM2 is postsynaptic in culture and in intact mice. Thus SynCAM1 and SynCAM2 could be heterophilic partners. MiniSOG may do for EM what Green Fluorescent Protein did for fluorescence microscopy.

  15. Genetic correlation between days until start of luteal activity and milk yield, energy balance, and live weights

    NARCIS (Netherlands)

    Veerkamp, R.F.; Oldenbroek, J.K.; Gaast, van der H.J.; Werf, van der J.H.J.

    2000-01-01

    The objective of this study was to estimate genetic correlations among fertility and measures of energy balance, dry matter intake, and live weight (change). Data from 622 first lactation cows (fed ad libitum a complete ration) included milk, fat, and protein yields; energy balance; and live weights

  16. Genetic and phenotypic correlations between feather pecking behavior, stress response, immune reponse, and egg quality traits in laying hens

    NARCIS (Netherlands)

    Buitenhuis, A.J.; Rodenburg, T.B.; Wissink, P.H.; Visscher, J.; Koene, P.; Bovenhuis, H.; Ducro, B.J.; Poel, van der J.J.

    2004-01-01

    The objective of the current study was to estimate genetic and phenotypic correlations among feather pecking (FP) behavior and stress response, immune response, and egg quality parameters. These traits have been measured in an F-2 cross, coming from a cross between a high and a low FP line of laying

  17. Genetic and environmental correlates of morphological variation in a marine fish: the case of Baltic Sea herring ( Clupea harengus )

    DEFF Research Database (Denmark)

    Jørgensen, H.B.H.; Pertoldi, C.; Hansen, Michael Møller;

    2008-01-01

    Baltic Sea herring (Clupea harengus) have been shown to exhibit morphological differences across the marked salinity and temperature gradients in the region. Here we analyse genetic (nine microsatellite loci), morpho metric (skull shape), and meristic (pectoral fin rays and number of vertebrae......) variations across seven samples of spawning herring collected from four spawning locations in the Baltic Sea to examine whether morphological variation correlates with genetic and (or) environmental factors. Results suggest that herring is adapting to its environment through a combination of selection...... and plastic responses. Skull shape, including and excluding size variation, differed significantly among samples, both temporally and spatially. Genetic and morphometric distances were correlated, especially when size variation was excluded from the analysis. When size variation was included, skull shape...

  18. Genetics

    Science.gov (United States)

    ... Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  19. Change in genetic correlation due to selection using animal model evaluation.

    Science.gov (United States)

    Strandén, I; Mäntysaari, E A; Mäki-Tanila, A

    1993-01-12

    Monte Carlo simulation and analytical calculations were used to study the effect of selection on genetic correlation between two traits. The simulated breeding program was based on a closed adult multiple ovulation and embryo transfer nucleus breeding scheme. Selection was on an index calculated using multi-trait animal model (AM). Analytical formulae applicable to any evaluation method were derived to predict change in genetic (co)variance due to selection under multi-trait selection using different evaluation methods. Two formulae were investigated, one assuming phenotypic selection and the other based on a recursive two-generation AM selection index. The recursive AM method approximated information due to relatives by a relationship matrix of two generations. Genetic correlation after selection was compared under different levels of initial genetic and environmental correlations with two different selection criteria. Changes in genetic correlation were similar in simulation and analytical predictions. After one round of selection the recursive AM method and the simulation gave similar predictions while the phenotypic selection predicted usually more change in genetic correlation. After several rounds of selection both analytical formulae predicted more change in genetic correlation than the simulation. ZUSAMMENFASSUNG: Änderung der genetischen Korrelation bei Selektion mit einem Tiermodell Der Selektionseffekt auf die genetische Korrelation zwischen zwei Merkmalen wurde mit Hilfe von Monte Carlo-Simulation und analytischen Berechnungen untersucht. Ein geschlossener Adulter - MOET (Multiple Ovulation and Embryo Transfer) Zuchtplan wurde simuliert. Die Selektion gründete sich auf einen Index, der die Zuchtwertschätzung des Mehrmerkmals-Tiermodells benutzte. Analytische Formeln für die Voraussage der Änderung der genetischen (Ko)varianz unter multivariate Selektion für verschiedene Zuchtwertschätzungsmethode wurden deduziert. Zwei Formeln wurden studiert

  20. Visualizing viral protein structures in cells using genetic probes for correlated light and electron microscopy.

    Science.gov (United States)

    Ou, Horng D; Deerinck, Thomas J; Bushong, Eric; Ellisman, Mark H; O'Shea, Clodagh C

    2015-11-15

    Structural studies of viral proteins most often use high-resolution techniques such as X-ray crystallography, nuclear magnetic resonance, single particle negative stain, or cryo-electron microscopy (EM) to reveal atomic interactions of soluble, homogeneous viral proteins or viral protein complexes. Once viral proteins or complexes are separated from their host's cellular environment, their natural in situ structure and details of how they interact with other cellular components may be lost. EM has been an invaluable tool in virology since its introduction in the late 1940's and subsequent application to cells in the 1950's. EM studies have expanded our knowledge of viral entry, viral replication, alteration of cellular components, and viral lysis. Most of these early studies were focused on conspicuous morphological cellular changes, because classic EM metal stains were designed to highlight classes of cellular structures rather than specific molecular structures. Much later, to identify viral proteins inducing specific structural configurations at the cellular level, immunostaining with a primary antibody followed by colloidal gold secondary antibody was employed to mark the location of specific viral proteins. This technique can suffer from artifacts in cellular ultrastructure due to compromises required to provide access to the immuno-reagents. Immunolocalization methods also require the generation of highly specific antibodies, which may not be available for every viral protein. Here we discuss new methods to visualize viral proteins and structures at high resolutions in situ using correlated light and electron microscopy (CLEM). We discuss the use of genetically encoded protein fusions that oxidize diaminobenzidine (DAB) into an osmiophilic polymer that can be visualized by EM. Detailed protocols for applying the genetically encoded photo-oxidizing protein MiniSOG to a viral protein, photo-oxidation of the fusion protein to yield DAB polymer staining, and

  1. Genetic correlations of clinical mastitis and feet and legs problems with milk yield and type traits in Dutch Black and White dairy cattle.

    NARCIS (Netherlands)

    Groen, A.F.; Hellinga, I.; Oldenbroek, J.K.

    1994-01-01

    Direct selection for decreased disease incidence is difficult given low hsuperscript 2s and the absence of disease recording. Genetic correlations between diseases and type traits indicate possibilities for indirect selection; however, correlations often include experimentally instead of routinely s

  2. Genetics of serum carotenoid concentrations and their correlation with obesity-related traits in Mexican American children.

    Science.gov (United States)

    Farook, Vidya S; Reddivari, Lavanya; Mummidi, Srinivas; Puppala, Sobha; Arya, Rector; Lopez-Alvarenga, Juan Carlos; Fowler, Sharon P; Chittoor, Geetha; Resendez, Roy G; Kumar, Birunda Mohan; Comuzzie, Anthony G; Curran, Joanne E; Lehman, Donna M; Jenkinson, Christopher P; Lynch, Jane L; DeFronzo, Ralph A; Blangero, John; Hale, Daniel E; Duggirala, Ravindranath; Vanamala, Jairam Kp

    2017-07-01

    Background: Dietary intake of phytonutrients present in fruits and vegetables, such as carotenoids, is associated with a lower risk of obesity and related traits, but the impact of genetic variation on these associations is poorly understood, especially in children.Objective: We estimated common genetic influences on serum carotenoid concentrations and obesity-related traits in Mexican American (MA) children.Design: Obesity-related data were obtained from 670 nondiabetic MA children, aged 6-17 y. Serum α- and β-carotenoid concentrations were measured in ∼570 (α-carotene in 565 and β-carotene in 572) of these children with the use of an ultraperformance liquid chromatography-photodiode array. We determined heritabilities for both carotenoids and examined their genetic relation with 10 obesity-related traits [body mass index (BMI), waist circumference (WC), high-density lipoprotein (HDL) cholesterol, triglycerides, fat mass (FM), systolic and diastolic blood pressure, fasting insulin and glucose, and homeostasis model assessment of insulin resistance] by using family data and a variance components approach. For these analyses, carotenoid values were inverse normalized, and all traits were adjusted for significant covariate effects of age and sex.Results: Carotenoid concentrations were highly heritable and significant [α-carotene: heritability (h(2)) = 0.81, P = 6.7 × 10(-11); β-carotene: h(2) = 0.90, P = 3.5 × 10(-15)]. After adjusting for multiple comparisons, we found significant (P ≤ 0.05) negative phenotypic correlations between carotenoid concentrations and the following traits: BMI, WC, FM, and triglycerides (range: α-carotene = -0.19 to -0.12; β-carotene = -0.24 to -0.13) and positive correlations with HDL cholesterol (α-carotene = 0.17; β-carotene = 0.24). However, when the phenotypic correlations were partitioned into genetic and environmental correlations, we found marginally significant (P = 0.051) genetic correlations only between

  3. Genetic risk score does not correlate with body mass index of Latina women in a clinical trial.

    Science.gov (United States)

    Coenen, Kimberly R; Karp, Sharon M; Gesell, Sabina B; Dietrich, Mary S; Morgan, Thomas M; Barkin, Shari L

    2011-10-01

    Obesity disproportionately affects Latina women. Common genetic variants are convincingly associated with body mass index (BMI) and may be used to create genetic risk scores (GRS) for obesity that could define genetically influenced forms of obesity and alter response to clinical trial interventions. The objective of this study was (1) to identify the frequency and effect size of common obesity genetic variants in Latina women; (2) to determine the clinical utility of a GRS for obesity with Latina women participating in a community-based clinical trial. DNA from 85 Latina women was genotyped for eight genetic variants previously associated with BMI in Caucasians, but not yet assessed in Latina populations. The main outcome measure was the correlation of GRS (sum of eight risk alleles) with BMI, waist circumference, and percent body fat. A majority (83%) of participants had a BMI ≥25. Frequency of loci near FTO, MC4R, and GNPDA2 were lower in Latinas than Caucasians. Association of each locus with BMI was lower in Latinas compared to Caucasians with no significant correlations with BMI. We conclude that an eight locus GRS has no clinical utility for explaining obesity or predicting response to intervention in Latina women participating in a clinical trial.

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

    Science.gov (United States)

    Heat stress affects production and reproduction in dairy cattle. Genetic selection for body temperature might help to decrease the effects of heat stress on those traits. Objectives of the current study were a) to estimate genetic parameters of rectal temperature in dairy cows under heat stress cond...

  5. The genetic background of inflammatory bowel disease : from correlation to causality

    NARCIS (Netherlands)

    Uniken Venema, Werna Tc; Voskuil, Michiel D; Dijkstra, Gerard; Weersma, Rinse K; Festen, Eleonora Am

    2017-01-01

    Recent studies have greatly improved our insight into the genetic background of inflammatory bowel disease (IBD). New high-throughput technologies and large-scale international collaborations have contributed to the identification of 200 independent genetic risk loci for IBD. However, in most of the

  6. Adolescent age moderates genetic and environmental influences on parent-adolescent positivity and negativity: Implications for genotype-environment correlation.

    Science.gov (United States)

    Marceau, Kristine; Knopik, Valerie S; Neiderhiser, Jenae M; Lichtenstein, Paul; Spotts, Erica L; Ganiban, Jody M; Reiss, David

    2016-02-01

    We examined how genotype-environment correlation processes differ as a function of adolescent age. We tested whether adolescent age moderates genetic and environmental influences on positivity and negativity in mother-adolescent and father-adolescent relationships using parallel samples of twin parents from the Twin and Offspring Study in Sweden and twin/sibling adolescents from the Nonshared Environment in Adolescent Development Study. We inferred differences in the role of passive and nonpassive genotype-environment correlation based on biometric moderation findings. The findings indicated that nonpassive gene-environment correlation played a stronger role for positivity in mother- and father-adolescent relationships in families with older adolescents than in families with younger adolescents, and that passive gene-environment correlation played a stronger role for positivity in the mother-adolescent relationship in families with younger adolescents than in families with older adolescents. Implications of these findings for the timing and targeting of interventions on family relationships are discussed.

  7. Thermal mathematical model correlation through genetic algorithms of an experiment conducted on board the International Space Station

    Science.gov (United States)

    Garmendia, Iñaki; Anglada, Eva

    2016-05-01

    Genetic algorithms have been used for matching temperature values generated using thermal mathematical models against actual temperatures measured in thermal testing of spacecrafts and space instruments. Up to now, results for small models have been very encouraging. This work will examine the correlation of a small-medium size model, whose thermal test results were available, by means of genetic algorithms. The thermal mathematical model reviewed herein corresponds to Tribolab, a materials experiment deployed on board the International Space Station and subjected to preflight thermal testing. This paper will also discuss in great detail the influence of both the number of reference temperatures available and the number of thermal parameters included in the correlation, taking into account the presence of heat sources and the maximum range of temperature mismatch. Conclusions and recommendations for the thermal test design will be provided, as well as some indications for future improvements.

  8. Correlation between the Chemical and Genetic Relationships among Thymus saturejoides Genotypes Cultured under in vitro and in vivo Environments.

    Science.gov (United States)

    Nordine, Aicha; Udupa, Sripada M; Iraqi, Driss; Meksem, Khalid; Hmamouchi, Mohamed; ElMeskaoui, Abdelmalek

    2016-04-01

    In this study, the in vitro and in vivo essential oil (EO) composition and genetic variability in six micropropagated genotypes of Thymus saturejoides Coss., a Mediterranean medicinal and aromatic plant, were analyzed by GC/MS and randomly amplified polymorphic DNA (RAPD). Yield and composition of the EO varied between genotypes. Cluster analysis based on RAPD data and EO grouped the six genotypes in three groups in both culture conditions, thus showing considerable intraspecific genetic and chemical variations. Applying the Mantel test, the result showed a significant correlation between the two proximity matrices RAPD and EO obtained from in vitro genotypes, whereas this correlation was not observed when using the EO obtained from the in vivo genotypes.

  9. Genetic variables of various manifestations of osteochondrosis and their correlations between and within joints in Dutch warmblood horses.

    Science.gov (United States)

    van Grevenhof, E M; Schurink, A; Ducro, B J; van Weeren, P R; van Tartwijk, J M F M; Bijma, P; van Arendonk, J A M

    2009-06-01

    Osteochondrosis (OC) is an important orthopedic developmental disorder in many horse populations. A review of the literature revealed widely variable heritability estimates for the disorder. We estimated the genetic variables (heritabilities and genetic correlations) of various manifestations of OC. Femoropatellar, tarsocrural, and metacarpophalangeal and metatarsophalangeal joints of 811 randomly selected yearlings from the Royal Warmblood Studbook of The Netherlands, descending from 32 representative stallions, were scored for OC at 28 predilection sites. At each site, OC was scored in 5 categories, distinguishing between flattened bone contours and fragments. At the animal level, the overall heritability of OC was 0.23, the heritability of flattened bone contours was 0.08, and the heritability of fragments was 0.22. At the joint level, heritability was greatest in the tarsocrural joints, intermediate in the metacarpophalangeal and metatarsophalangeal joints, and least in the femoropatellar joints. The heritability estimates for the contralateral joint homologs were very similar. The genetic correlation between the tarsocrural and femoropatellar joint was strong, whereas correlations between the metacarpophalangeal and metatarsophalangeal and other joints were moderate. The genetic correlation between flattened bone contours and fragments at the animal level was 0.80. Scoring OC on a 5-point categorical scale resulted in greater heritability on the observed scale than when analyzing OC as a binary trait. Our results suggest that selection against OC could best be performed by taking into account the OC status of all 4 joints, the femoropatellar, the tarsocrural, and the metacarpophalangeal and metatarsophalangeal joints, and discerning between flattened bone contours and fragments.

  10. SNP-revealed genetic diversity in wild emmer wheat correlates with ecological factors

    National Research Council Canada - National Science Library

    Ren, Jing; Chen, Liang; Sun, Daokun; You, Frank M; Wang, Jirui; Peng, Yunliang; Nevo, Eviatar; Beiles, Avigdor; Sun, Dongfa; Luo, Ming-Cheng; Peng, Junhua

    2013-01-01

    .... However, few studies have been performed on the genetic structure and population divergence in wild emmer wheat using a large number of EST-related single nucleotide polymorphism (SNP) markers...

  11. Increasing Public Awareness of Direct-to-Consumer Genetic Tests: Health Care Access, Internet Use, and Population Density Correlates

    Directory of Open Access Journals (Sweden)

    Lila J. Finney Rutten

    2012-01-01

    Full Text Available Uncertainty around the value of and appropriate regulatory models for direct-to-consumer (DTC genetic testing underscores the importance of tracking public awareness of these services. We analyzed nationally representative, cross-sectional data from the Health Information National Trends Survey in 2008 (n=7,674 and 2011 (n=3,959 to assess population-level changes in awareness of DTC genetic testing in the U.S. and to explore sociodemographic, health care, Internet use, and population density correlates. Overall, awareness increased significantly from 29% in 2008 to 37% in 2011. The observed increase in awareness from 2008 to 2011 remained significant (OR=1.39 even when adjusted for sociodemographic variables, health care access, Internet use, and population density. Independent of survey year, the odds of awareness of DTC genetic tests were significantly higher for those aged 50–64 (OR=1.64, and 65–74 (OR=1.60; college graduates (OR=2.02; those with a regular source of health care (OR=1.27; those with a prior cancer diagnosis (OR=1.24; those who use the Internet (OR=1.27; and those living in urban areas (OR=1.25. Surveillance of awareness—along with empirical data on use of and response to genetic risk information—can inform public health and policy efforts to maximize benefits and minimize risks of DTC genetic testing.

  12. Environmental correlates of species and genetic richness in lungless salamanders (family plethodontidae)

    Science.gov (United States)

    Marshall, Jeremy L.; Camp, Carlos D.

    2006-01-01

    Biological diversity is distributed across the planet in non-random, organised ways. At the species level, numerous environmental variables have been proposed to explain this non-random distribution with available energy and habitat heterogeneity receiving the most empirical support. With regard to genetic organisation, environmental stress and habitat heterogeneity have been widely supported. However, few studies have addressed if these two scales of biological organisation are structured via similar processes. Here, we tested whether or not the distributional organisation of genetic and species richness were driven by similar environmental variables for salamanders of the family Plethodontidae across North America. In general, we found that those environmental variables related to energy, particularly energy made accessible to salamanders via the actions of available moisture, were the primary determinants of both genetic and species richness. This finding is consistent with both the "more individuals hypothesis" of species richness and neutral-theory expectations for genetic richness. Additionally, greater habitat heterogeneity, as measured by increased topographic variance, was of secondary importance in positively influencing species richness, although its effects on genetic richness were far more variable. In total, our results suggest that both of these scales of biological organisation are influenced by similar environmental variables, even though increased genetic richness at the population-level does not always translate into greater species richness.

  13. Genetic correlation estimates between beef fatty acid profile with meat and carcass traits in Nellore cattle finished in feedlot.

    Science.gov (United States)

    Feitosa, Fabieli Loise Braga; Olivieri, Bianca Ferreira; Aboujaoude, Carolyn; Pereira, Angélica Simone Cravo; de Lemos, Marcos Vinicius Antunes; Chiaia, Hermenegildo Lucas Justino; Berton, Mariana Piatto; Peripolli, Elisa; Ferrinho, Adrielle Matias; Mueller, Lenise Freitas; Mazalli, Mônica Roberta; de Albuquerque, Lucia Galvão; de Oliveira, Henrique Nunes; Tonhati, Humberto; Espigolan, Rafael; Tonussi, Rafael Lara; de Oliveira Silva, Rafael Medeiros; Gordo, Daniel Gustavo Mansan; Magalhães, Ana Fabrícia Braga; Aguilar, Ignacio; Baldi, Fernando

    2017-02-01

    The objective of this study was to estimate the genetic-quantitative relationships between the beef fatty acid profile with the carcass and meat traits of Nellore cattle. A total of 1826 bulls finished in feedlot conditions and slaughtered at 24 months of age on average were used. The following carcass and meat traits were analysed: subcutaneous fat thickness (BF), shear force (SF) and total intramuscular fat (IMF). The fatty acid (FA) profile of the Longissimus thoracis samples was determined. Twenty-five FAs (18 individuals and seven groups of FAs) were selected due to their importance for human health. The animals were genotyped with the BovineHD BeadChip and, after quality control for single nucleotide polymorphisms (SNPs), only 470,007 SNPs from 1556 samples remained. The model included the random genetic additive direct effect, the fixed effect of the contemporary group and the animal's slaughter age as a covariable. The (co)variances and genetic parameters were estimated using the REML method, considering an animal model (single-step GBLUP). A total of 25 multi-trait analyses, with four traits, were performed considering SF, BF and IMF plus each individual FA. The heritability estimates for individual saturated fatty acids (SFA) varied from 0.06 to 0.65, for monounsaturated fatty acids (MUFA) it varied from 0.02 to 0.14 and for polyunsaturated fatty acids (PUFA) it ranged from 0.05 to 0.68. The heritability estimates for Omega 3, Omega 6, SFA, MUFA and PUFA sum were low to moderate, varying from 0.09 to 0.20. The carcass and meat traits, SF (0.06) and IMF (0.07), had low heritability estimates, while BF (0.17) was moderate. The genetic correlation estimates between SFA sum, MUFA sum and PUFA sum with BF were 0.04, 0.64 and -0.41, respectively. The genetic correlation estimates between SFA sum, MUFA sum and PUFA sum with SF were 0.29, -0.06 and -0.04, respectively. The genetic correlation estimates between SFA sum, MUFA sum and PUFA sum with IMF were 0.24, 0

  14. Short communication: Genetic correlation of bovine leukosis incidence with somatic cell score and milk yield in a US Holstein population.

    Science.gov (United States)

    Abdalla, E A; Weigel, K A; Byrem, T M; Rosa, G J M

    2016-03-01

    Bovine leukosis (BL) is a retroviral disease caused by the bovine leukosis virus (BLV), which affects only cattle. Dairy cows positive for BL produce less milk and have more days open than cows negative for BL. In addition, the virus also affects the immune system and causes weaker response to vaccines. Heritability estimates of BL incidence have been reported for Jersey and Holstein populations at about 0.08, indicating an important genetic component that can potentially be exploited to reduce the prevalence of the disease. However, before BL is used in selection programs, it is important to study its genetic associations with other economically important traits such that correlated responses to selection can be predicted. Hence, this study aimed to estimate the genetic correlations of BL with milk yield (MY) and with somatic cell score (SCS). Data of a commercial assay (ELISA) used to detect BLV antibodies in milk samples were obtained from Antel BioSystems (Lansing, MI). The data included continuous milk ELISA scores and binary milk ELISA results for 11,554 cows from 112 dairy herds across 16 US states. Continuous and binary milk ELISA were analyzed with linear and threshold models, respectively, together with MY and SCS using multitrait animal models. Genetic correlations (posterior means ± standard deviations) between BL incidence and MY were 0.17 ± 0.077 and 0.14 ± 0.076 using ELISA scores and results, respectively; with SCS, such estimates were 0.20 ± 0.081 and 0.17 ± 0.079, respectively. In summary, the results indicate that selection for higher MY may lead to increased BLV prevalence in dairy herds, but that the inclusion of BL (or SCS as an indicator trait) in selection indexes may help attenuate this problem.

  15. Genetic and phenotypic correlations between performance traits with meat quality and carcass characteristics in commercial crossbred pigs.

    Directory of Open Access Journals (Sweden)

    Younes Miar

    Full Text Available Genetic correlations between performance traits with meat quality and carcass traits were estimated on 6,408 commercial crossbred pigs with performance traits recorded in production systems with 2,100 of them having meat quality and carcass measurements. Significant fixed effects (company, sex and batch, covariates (birth weight, cold carcass weight, and age, random effects (additive, litter and maternal were fitted in the statistical models. A series of pairwise bivariate analyses were implemented in ASREML to estimate heritability, phenotypic, and genetic correlations between performance traits (n = 9 with meat quality (n = 25 and carcass (n = 19 traits. The animals had a pedigree compromised of 9,439 animals over 15 generations. Performance traits had low-to-moderate heritabilities (±SE, ranged from 0.07±0.13 to 0.45±0.07 for weaning weight, and ultrasound backfat depth, respectively. Genetic correlations between performance and carcass traits were moderate to high. The results indicate that: (a selection for birth weight may increase drip loss, lightness of longissimus dorsi, and gluteus medius muscles but may reduce fat depth; (b selection for nursery weight can be valuable for increasing both quantity and quality traits; (c selection for increased daily gain may increase the carcass weight and most of the primal cuts. These findings suggest that deterioration of pork quality may have occurred over many generations through the selection for less backfat thickness, and feed efficiency, but selection for growth had no adverse effects on pork quality. Low-to-moderate heritabilities for performance traits indicate that they could be improved using traditional selection or genomic selection. The estimated genetic parameters for performance, carcass and meat quality traits may be incorporated into the breeding programs that emphasize product quality in these Canadian swine populations.

  16. Genetic correlations between brain volumes and the WAIS-III dimensions of verbal comprehension, working memory, perceptual organization, and processing speed

    DEFF Research Database (Denmark)

    Posthuma, Daniëlle; Baare, Wim F.C.; Hulshoff Pol, Hilleke E.

    2003-01-01

    We recently showed that the correlation of gray and white matter volume with full scale IQ and the Working Memory dimension are completely mediated by common genetic factors (Posthuma et al., 2002). Here we examine whether the other WAIS III dimensions (Verbal Comprehension, Perceptual Organization...... to Working Memory capacity (r = 0.27). This phenotypic correlation is completely due to a common underlying genetic factor. Processing Speed was genetically related to white matter volume (r(g) = 0.39). Perceptual Organization was both genetically (r(g) = 0.39) and environmentally (r(e) = -0.71) related...

  17. Heritability of high sugar consumption through drinks and the genetic correlation with substance use.

    Science.gov (United States)

    Treur, Jorien L; Boomsma, Dorret I; Ligthart, Lannie; Willemsen, Gonneke; Vink, Jacqueline M

    2016-10-01

    High sugar consumption contributes to the rising prevalence of obesity. Sugar can have rewarding effects that are similar to, but less strong than, the effects of addictive substances. People who consume large amounts of sugar also tend to use more addictive substances, but it is unclear whether this is due to shared genetic or environmental risk factors. We examined whether there are genetic influences on the consumption of sugar-containing drinks and whether genetic factors can explain the association with substance use. The frequency of consumption of sugar-containing drinks (e.g., cola, soft drinks, and energy drinks) and addictive substances (nicotine, caffeine, alcohol, cannabis, and illicit drugs) was obtained for 8586 twins who were registered at the Netherlands Twin Register (women: 68.7%; mean ± SD age: 33.5 ± 15.3 y). Participants were categorized as high or low sugar consumers (>1 compared with ≤1 SD above daily consumption in grams) and as high or low substance users (≥2 compared with consumption, substance use, and their association were estimated. Genetic factors explained 48% of the variation in high sugar consumption, whereas unique environmental factors explained 52%. For high substance use, these values were 62% and 38%, respectively. There was a moderate phenotypic association between high sugar consumption and high substance use (r = 0.2), which was explained by genetic factors (59%) and unique environmental factors (41%). The positive association between high sugar consumption and high substance use was partly due to unique environmental factors (e.g., social situations). Genetic factors were also of influence, suggesting that neuronal circuits underlying the development of addiction and obesity are related. Further research is needed to identify genes that influence sugar consumption and those that overlap with substance use. © 2016 American Society for Nutrition.

  18. The dilemma of Fisherian sexual selection: mate choice for indirect benefits despite rarity and overall weakness of trait-preference genetic correlation.

    Science.gov (United States)

    Greenfield, Michael D; Alem, Sylvain; Limousin, Denis; Bailey, Nathan W

    2014-12-01

    Fisher's mechanism of sexual selection is a fundamental element of evolutionary theory. In it nonrandom mate choice causes a genetic covariance between a male trait and female preference for that trait and thereby generates a positive feedback process sustaining accelerated coevolution of the trait and preference. Numerous theoretical models of Fisher's mechanism have confirmed its mathematical underpinnings, yet biologists have often failed to find evidence for trait-preference genetic correlation in populations in which the mechanism was expected to function. We undertook a survey of the literature to conduct a formal meta-analysis probing the incidence and strength of trait-preference correlation among animal species. Our meta-analysis found significant positive genetic correlations in fewer than 20% of the species studied and an overall weighted correlation that is slightly positive. Importantly, a significant positive correlation was not found in any thorough study that included multiple subgroups. We discuss several ways in which the dynamic, multivariate nature of mate choice may reduce the trait-preference genetic correlation predicted by Fisher's mechanism. We then entertain the possibilities that Fisherian-like processes sometimes function without genetic correlation, and that mate choice may persist in a population as long as genetic correlation, and therefore Fisher's mechanism, occurs intermittently.

  19. Tourette's Disorder: Genetic Update, Neurological Correlates, and Evidence-Based Interventions

    Science.gov (United States)

    Phelps, LeAdelle

    2008-01-01

    This article provides an update of the search for genetic markers related to Tourette's Disorder. The probable neurophysiology of the disorder is reviewed. Frequently prescribed medications are related to the probable biological bases of the disorder. Behavioral interventions and assessment tools are examined. It is concluded that evidence based…

  20. Correlations among Jamaican 12th-Graders' Five Variables and Performance in Genetics

    Science.gov (United States)

    Bloomfield, Deen-Paul; Soyibo, Kola

    2008-01-01

    This study was aimed at finding out if the level of performance of selected Jamaican Grade 12 students on an achievement test on the concept of genetics was satisfactory; if there were statistically significant differences in their performance on the concept linked to their gender, self-esteem, cognitive abilities in biology, school-type and…

  1. Erythropoietin in the General Population : Reference Ranges and Clinical, Biochemical and Genetic Correlates

    NARCIS (Netherlands)

    Grote Beverborg, Niels; Verweij, Niek; Klip, IJsbrand T.; van der Wal, Haye H.; Voors, Adriaan A.; van Veldhuisen, Dirk J.; Gansevoort, Ron T.; Bakker, Stephan J. L.; van der Harst, Pim; van der Meer, Peter

    2015-01-01

    Background Although erythropoietin has been used for decades in the treatment of anemia, data regarding endogenous levels in the general population are scarce. Therefore, we determined erythropoietin reference ranges and its clinical, biochemical and genetic associations in the general population. M

  2. Maize Leaf Epiphytic Bacteria Diversity Patterns Are Genetically Correlated with Resistance to Fungal Pathogen Infection

    Science.gov (United States)

    Plant leaves host a specific set of microbial epiphytes. These phyllosphere organisms form a large community, with annual crops alone covering millions of hectares each year. Host plant genetic factors and abiotic stresses such as UV-B are key in shaping patterns of epiphyte diversity; we analyzed...

  3. Estimating the purebred-crossbred genetic correlation for uniformity of eggshell color in laying hens

    NARCIS (Netherlands)

    Mulder, Herman; Visscher, Jeroen; Fablet, Julien

    2016-01-01

    Background: Uniformity of eggs is an important aspect for retailers because consumers prefer homogeneous products. One of these characteristics is the color of the eggshell, especially for brown eggs. Existence of a genetic component in environmental variance would enable selection for uniformity

  4. Applicability of genetic polymorphism analysis for the diagnosis of Angelman syndrome and the correlation between language difficulties and disease phenotype.

    Science.gov (United States)

    Wang, K; Li, Y T; Hou, M

    2016-06-17

    Angelman syndrome (AS) is a neurogenetic disorder caused by a defect in the expression of the maternally inherited ubiquitin protein ligase E3A (UBE3A) gene in chromosome 15. The most common genetic defects include maternal deletions in chromosome 15q11-13; however, paternal uniparental disomy and imprinting defects allow for the identification of mutations in UBE3A in 10% of patients with AS. The aim of this study was to validate the clinical features and genetic polymorphisms of AS, and to discuss the relationship between functional language lateralization and the arcuate fasciculus in the Broca's and Wernicke's areas. Six children with AS (mean age = 32.57 months) presenting characteristic behavioral patterns of AS (frequent laughter and happy demeanor, hand flapping, and hypermotor behavior) were recruited to this study. The patients underwent a clinical evaluation (clinical history, dysmorphological and neurological examinations, and psychological evaluations) and paraclinical investigations [genetic tests (fluorescence in situ hybridization and methylation polymerase chain reaction), electroencephalogram, and magnetic resonance imaging]. We conclude that AS diagnosis cannot rely solely on genetic testing for polymorphisms in UBE3A and must consider its clinical characteristics. Moreover, functional language lateralization and the arcuate fasciculus in the Broca's and Wernicke's areas were found to be closely correlated. Therefore, UBE3A gene mutation analysis combined with comprehensive clinical evaluations may be suitable for the diagnosis of AS.

  5. Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity.

    Directory of Open Access Journals (Sweden)

    Relu Cocoş

    Full Text Available Wilson's disease is an autosomal recessive disorder caused by more than 500 mutations in ATP7B gene presenting considerably clinical manifestations heterogeneity even in patients with a particular mutation. Previous findings suggested a potential role of additional genetic modifiers and environment factors on phenotypic expression among the affected patients. We conducted clinical and genetic investigations to perform genotype-phenotype correlation in two large families living in a socio-culturally isolated community with the highest prevalence of Wilson's disease ever reported of 1 ∶ 1130. Sequencing of ATP7B gene in seven affected individuals and 43 family members identified a common compound heterozygous genotype, H1069Q/M769H-fs, in five symptomatic and two asymptomatic patients and detected the presence of two out of seven identified single nucleotide polymorphisms in all affected patients. Symptomatic patients had similar clinical phenotype and age at onset (18 ± 1 years showing dysarthria and dysphagia as common clinical features at the time of diagnosis. Moreover, all symptomatic patients presented Kayser-Fleischer rings and lack of dystonia accompanied by unfavourable clinical outcomes. Our findings add value for understanding of genotype-phenotype correlations in Wilson's disease based on a multifamily study in an isolated population with high extent of genetic and environmental homogeneity as opposed to majority of reports. We observed an equal influence of presumed other genetic modifiers and environmental factors on clinical presentation and age at onset of Wilson's disease in patients with a particular genotype. These data provide valuable inferences that could be applied for predicting clinical management in asymptomatic patients in such communities.

  6. Different testers influence genetic correlational response in narrow-based maize population NSA15

    Directory of Open Access Journals (Sweden)

    Stanisavljević Dušan

    2015-01-01

    Full Text Available The goal of this study was to determine correlations between grain yield and other morphological and agronomical traits in two groups of maize half-sib (HS progenies. Progenies were obtained by crossing every S1 family with two unrelated inbred lines as testers, NS732 and NS27. Field trials with incomplete block design, with replicates within set were conducted in 2008 and 2009 at four locations. The following traits were observed: grain yield, ear length, kernel row number, kernel number per row, 1000-kernel weight, plant height, ear height, number of leaves above ear and grain moisture. Significant moderate strong negative correlation between grain yield and ear length was determined in HS1 progeny. High significant correlations occurred among plant and ear height in both HS and between plant height and number of leaves. Observed differences in levels of correlation imply significant influence of tester in each group on HS progeny.

  7. Heritabilities and genetic correlations for litter size and semen traits in Czech Large White and Landrace pigs.

    Science.gov (United States)

    Wolf, J

    2010-09-01

    The objective of the present study was to estimate heritabilities and genetic correlations for semen and litter size traits using full animal model analyses. Litter size data were available from 28,485 Czech Large White and 10,410 Czech Landrace sows farrowing between 1995 and 2008. The number of litter records was 91,922 and 30,937, respectively. Records on semen traits (37,137 ejaculates from 778 Large White boars and 51,341 ejaculates from 841 Landrace boars) were available from 22 AI centers in the Czech Republic from 2000 to 2009. All calculations were carried out separately for each breed. Number of functional sperm was defined as total number of sperm times the fraction of motile sperm times (1 - the fraction of abnormal sperm). Among the semen traits, semen volume showed the greatest heritability (0.20 +/- 0.019 in Large White and 0.25 +/- 0.018 in Landrace), followed by sperm concentration with a heritability of 0.18 (SE = 0.012 and 0.014) in both breeds. The heritabilities of the remaining 4 traits (motility, percentage of abnormal sperm, total number of sperm, and number of functional sperm) were around 0.10 (SE = 0.016 to 0.031). Large negative genetic correlations were observed between semen volume and sperm concentration and between motility and percentage of abnormal sperm, especially in Large White. Positive and negative correlations among remaining semen traits were mostly of small magnitude. There was a tendency for increasing litter size to be associated with slight decreases in the total number of sperm and in the number of functional sperm, especially in the Large White breed (genetic correlations of -0.08 to -0.14 and -0.16 to -0.31, respectively, with SE between 0.100 and 0.114). Some of the correlations between semen and litter size traits (especially with the percentage of abnormal sperm) were breed-specific (positive up to 0.63 +/- 0.062 for Large White and negative until -0.41 +/- 0.106 in Landrace). Furthermore, parity

  8. Genetic and environmental influences on sexual orientation and its correlates in an Australian twin sample.

    Science.gov (United States)

    Bailey, J M; Dunne, M P; Martin, N G

    2000-03-01

    We recruited twins systematically from the Australian Twin Registry and assessed their sexual orientation and 2 related traits: childhood gender nonconformity and continuous gender identity. Men and women differed in their distributions of sexual orientation, with women more likely to have slight-to-moderate degrees of homosexual attraction, and men more likely to have high degrees of homosexual attraction. Twin concordances for nonheterosexual orientation were lower than in prior studies. Univariate analyses showed that familial factors were important for all traits, but were less successful in distinguishing genetic from shared environmental influences. Only childhood gender nonconformity was significantly heritable for both men and women. Multivariate analyses suggested that the causal architecture differed between men and women, and, for women, provided significant evidence for the importance of genetic factors to the traits' covariation.

  9. The capability of tyramine production and correlation between phenotypic and genetic characteristics of Enterococcus faecium and Enterococcus faecalis strains

    Directory of Open Access Journals (Sweden)

    Eleonora eBargossi

    2015-12-01

    Full Text Available The aim of this study was to investigate the diversity of tyramine production capability of four Enterococcus strains in buffered systems in relation to their genetic characteristics and environmental conditions. Cells of the strains Enterococcus faecalis EF37 and ATCC 29212, and Enterococcus faecium FC12 and FC643 were re-suspended in phosphate/citrate buffers with different pH, NaCl concentration and incubation temperature. At intervals, cell viability and tyramine production were assessed by plate counting and HPLC analysis, respectively. The activity of a purified tyrosine decarboxylase (TDC was determined under the same conditions, as a reference. Reduced loss in cell viability was observed in all the tested conditions, except for pH 4 after 24 h. The TDC activity was greatly heterogeneous within the enterococci: EF37 and FC12 produced the higher tyramine concentrations, ATCC 29212 showed a reduced decarboxylase activity, while EF643 did not accumulate detectable amounts of tyramine in all the conditions assayed. Among the considerate variables, temperature was the most influencing factor on tyramine accumulation for enterococcal cells.To further correlate the phenotypic and genetic characteristics of the enterococci, the TDC operon region carrying the genes tyrosine decarboxylase (tyrDC, tyrosine/tyramine permease (tyrP, and Na+/H+ antiporter (nhaC-2 was amplified and sequenced. The genetic organization and nucleotide sequence of this operon region were highly conserved in the enterococcal strains of the same species. The heterogeneity in tyramine production found between the two E. faecalis strains could be ascribed to different regulation mechanisms not yet elucidated. On the contrary, a codon stop was identified in the translated tyrDC sequence of E. faecium FC643, supporting its inability to accumulate tyramine in the tested conditions. In addition, the presence of an additional putative tyrosine decarboxylase with different substrate

  10. Histopathological-molecular genetic correlations in referral pathologist-diagnosed low-grade "oligodendroglioma".

    Science.gov (United States)

    Sasaki, Hikaru; Zlatescu, Magdalena C; Betensky, Rebecca A; Johnk, Loki B; Cutone, Andrea N; Cairncross, J Gregory; Louis, David N

    2002-01-01

    Allelic loss of chromosome 1p predicts increased chemosensitivity and better survival in oligodendroglial tumors. Clinical testing for 1p loss in oligodendroglial tumors at our hospital has allowed us to postulate that certain histological appearances are associated with 1p allelic status. Forty-four cases received for genetic testing were diagnosed by referring pathologists as pure low-grade oligodendroglioma. Central neuropathological review divided the series equally into 22 cases with classical oligodendroglioma histology and 22 with more astrocytic features. Molecular genetic analyses demonstrated 1p loss in 19 of 22 classic oligodendrogliomas (86%) and maintenance of both 1p alleles in 16 of 22 gliomas with astrocytic features (73%). No glial fibrillary acidic protein-positive cell type (gliofibrillary oligodendrocyte, minigemistocyte, cellular processes) was associated with 1p allelic status. Fourteen of the 44 cases were treated with chemotherapy at tumor progression: 3 "astrocytic" gliomas with 1p loss responded to PCV chemotherapy and 2 classic oligodendrogliomas that maintained both 1p alleles included a responder and a non-responder. These results suggest that histological appearance correctly predicts genotype in approximately 80% of low-grade gliomas, but that tumor genotype more closely predicts chemosensitivity. As a result, such objective molecular genetic analyses should be incorporated into patient management and into clinical trials of low-grade diffuse gliomas.

  11. sup 2 sup 5 sup 2 Cf source-correlated transmission measurements and genetic programming for nuclear safeguards

    CERN Document Server

    Pozzi, S A

    2002-01-01

    One of the main targets of nuclear safeguards is to determine the mass and enrichment of fissile samples enclosed in special, non-accessible containers. In this paper, we present a method to estimate the mass of uranium oxide samples based on sup 2 sup 5 sup 2 Cf source-driven noise-analysis measurements. We show that the mass of the samples can be successfully predicted using a genetic programming algorithm. The input presented to the algorithm was in the form of features extracted from the physical properties of the measured correlation functions.

  12. The effects of resource availability and the demographic transition on the genetic correlation between number of children and grandchildren in humans.

    Science.gov (United States)

    Bolund, E; Lummaa, V

    2017-02-01

    Studies of evolutionary change require an estimate of fitness, and lifetime reproductive success is widely used for this purpose. However, many species face a trade-off between the number and quality of offspring and in such cases number of grandoffspring may better represent the genetic contribution to future generations. Here, we apply quantitative genetic methods to a genealogical data set on humans from Finland to address how the genetic correlation between number of children and grandchildren is influenced by the severity of the trade-off between offspring quality and quantity, as estimated by different levels of resource access among individuals in the population. Further, we compare the genetic correlation before and after the demographic transition to low mortality and fertility rates. The genetic correlation was consistently high (0.79-0.92) with the strongest correlations occurring in individuals with higher access to resources and before the demographic transition, and a tendency for lower correlations in resource poor individuals and after the transition. These results indicate that number of grandoffspring is a slightly better predictor of long-term genetic fitness than number of offspring in a human population across a range of environmental conditions, and more generally, that patterns of resource availability need to be taken into account when estimating genetic covariances with fitness.

  13. Correlation of physical and genetic maps of human chromosome 16. Annual progress report, October 1, 1990--July 31, 1991

    Energy Technology Data Exchange (ETDEWEB)

    Sutherland, G.R.

    1991-12-31

    This project aimed to divide chromosome 16 into approximately 50 intervals of {approximately}2Mb in size by constructing a series of mouse/human somatic cell hybrids each containing a rearranged chromosome 16. Using these hybrids, DNA probes would be regionally mapped by Southern blot or PCR analysis. Preference would be given to mapping probes which demonstrated polymorphisms for which the CEPH panel of families had been typed. This would allow a correlation of the physical and linkage maps of this chromosome. The aims have been substantially achieved. 49 somatic cell hybrids have been constructed which have allowed definition of 46, and potentially 57, different physical intervals on the chromosome. 164 loci have been fully mapped into these intervals. A correlation of the physical and genetic maps of the chromosome is in an advanced stage of preparation. The somatic cell hybrids constructed have been widely distributed to groups working on chromosome 16 and other genome projects.

  14. Genetic diversity and spatial correlation patterns unravel the biogeographical history of the European sweet vernal grasses (Anthoxanthum L., Poaceae).

    Science.gov (United States)

    Pimentel, Manuel; Sahuquillo, Elvira; Catalán, Pilar

    2007-08-01

    Different processes have contributed to shaping the present distribution of the European biotas. Up to three different tertiary- to quaternary-time-scale evolutionary scenarios have been proposed to interpret the divergence and genetic structuring of plant species in Europe. In the present study, the Amplified Fragment Length Polymorphisms technique has been used to unravel the species and regional phylogeography of the European sweet vernal grasses (Anthoxanthum L. Poaceae). Forty-six populations belonging to all seven European species of Anthoxanthum and covering a broad geographical and ecological range were selected. Different phylogeography and population genetics diversity and structure estimates indicated a clear divergence of old Messinian Mediterranean lineages, followed by a pre-Pliocene split between Mediterranean annuals and Eurosiberian perennials and a more recent Pleistocene differentiation of Arctic-Alpine, Atlantic and Submediterranean diploid to polyploid landraces. Regional and population correlation tests between geographical and genetic distances allowed to postulate distinct pre- and post-glacial colonization pathways across Europe for the taxa of this widespread genus.

  15. The clinical and genetic correlates of MRI findings in myotonic dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Bachmann, G. [Neuromuscular and Genetic Research Group, Department of Radiology, Justus Liebig University, Giessen (Germany); Damian, M.S. [Department of Neurology, University of Giessen (Germany); Koch, M. [Department of Human Genetics, University of Marburg (Germany); Schilling, G. [Department of Psychiatry, University of Giessen (Germany); Fach, B. [Department of Neurology, University of Giessen (Germany); Stoeppler, S. [Department of Neurology, University of Giessen (Germany)

    1996-10-01

    Amplification of an unstable CTG trinucleotide repeat sequence in a protein kinase gene on chromosome 19 has recently been recognised as the molecular basis of myotonic dystrophy (DM), a multisystem disorder with a wide spectrum of muscular and extramuscular manifestations. The CTG expansion of 40 patients was assessed by direct genotype analysis of the white blood cell DNA and correlated with MRI of the brain and muscles, and with functional clinical data. Cerebral pathology on MRI consisted of diffuse atrophy (68 %), subcortical white matter lesions (65 %), wide Virchow-Robin spaces (38 %) and thickening of the skull (35 %). Cerebral atrophy and extent of white matter disease correlated significantly with mental retardation, duration of disease and CTG fragment amplification. MRI of the muscular system showed fatty degeneration of different degrees in neighbouring muscles causing a mosaic pattern of the thigh in 38 % and the calf in 44 %. Muscular changes on MRI were strongly correlated with muscular impairment but less strongly with CTG expansion. Changes on MRI reflect the stage of development of tissue pathology in DM, modified by defect of the DM gene. Pathology on MRI is strongly correlated with functional deficits. (orig.). With 8 figs., 3 tabs.

  16. Cerebral blood volume calculated by dynamic susceptibility contrast-enhanced perfusion MR imaging: preliminary correlation study with glioblastoma genetic profiles.

    Directory of Open Access Journals (Sweden)

    Inseon Ryoo

    Full Text Available PURPOSE: To evaluate the usefulness of dynamic susceptibility contrast (DSC enhanced perfusion MR imaging in predicting major genetic alterations in glioblastomas. MATERIALS AND METHODS: Twenty-five patients (M:F = 13∶12, mean age: 52.1±15.2 years with pathologically proven glioblastoma who underwent DSC MR imaging before surgery were included. On DSC MR imaging, the normalized relative tumor blood volume (nTBV of the enhancing solid portion of each tumor was calculated by using dedicated software (Nordic TumorEX, NordicNeuroLab, Bergen, Norway that enabled semi-automatic segmentation for each tumor. Five major glioblastoma genetic alterations (epidermal growth factor receptor (EGFR, phosphatase and tensin homologue (PTEN, Ki-67, O6-methylguanine-DNA methyltransferase (MGMT and p53 were confirmed by immunohistochemistry and analyzed for correlation with the nTBV of each tumor. Statistical analysis was performed using the unpaired Student t test, ROC (receiver operating characteristic curve analysis and Pearson correlation analysis. RESULTS: The nTBVs of the MGMT methylation-negative group (mean 9.5±7.5 were significantly higher than those of the MGMT methylation-positive group (mean 5.4±1.8 (p = .046. In the analysis of EGFR expression-positive group, the nTBVs of the subgroup with loss of PTEN gene expression (mean: 10.3±8.1 were also significantly higher than those of the subgroup without loss of PTEN gene expression (mean: 5.6±2.3 (p = .046. Ki-67 labeling index indicated significant positive correlation with the nTBV of the tumor (p = .01. CONCLUSION: We found that glioblastomas with aggressive genetic alterations tended to have a high nTBV in the present study. Thus, we believe that DSC-enhanced perfusion MR imaging could be helpful in predicting genetic alterations that are crucial in predicting the prognosis of and selecting tailored treatment for glioblastoma patients.

  17. Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta

    Science.gov (United States)

    Lindahl, Katarina; Åström, Eva; Rubin, Carl-Johan; Grigelioniene, Giedre; Malmgren, Barbro; Ljunggren, Östen; Kindmark, Andreas

    2015-01-01

    Osteogenesis imperfecta (OI) is a rare hereditary bone fragility disorder, caused by collagen I mutations in 90% of cases. There are no comprehensive genotype–phenotype studies on >100 families outside North America, and no population-based studies determining the genetic epidemiology of OI. Here, detailed clinical phenotypes were recorded, and the COL1A1 and COL1A2 genes were analyzed in 164 Swedish OI families (223 individuals). Averages for bone mineral density (BMD), height and yearly fracture rate were calculated and related to OI and mutation type. N-terminal helical mutations in both the α1- and α2-chains were associated with the absence of dentinogenesis imperfecta (P95% of the complete Swedish pediatric OI population. The prevalence of OI types I, III, and IV was 5.16, 0.89, and 1.35/100 000, respectively (7.40/100 000 overall), corresponding to what has been estimated but not unequivocally proven in any population. Collagen I mutation analysis was performed in the family of 97% of known cases, with causative mutations found in 87%. Qualitative mutations caused 32% of OI type I. The data reported here may be helpful to predict phenotype, and describes for the first time the genetic epidemiology in >95% of an entire OI population. PMID:25944380

  18. Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

    Science.gov (United States)

    Lindahl, Katarina; Åström, Eva; Rubin, Carl-Johan; Grigelioniene, Giedre; Malmgren, Barbro; Ljunggren, Östen; Kindmark, Andreas

    2015-08-01

    Osteogenesis imperfecta (OI) is a rare hereditary bone fragility disorder, caused by collagen I mutations in 90% of cases. There are no comprehensive genotype-phenotype studies on >100 families outside North America, and no population-based studies determining the genetic epidemiology of OI. Here, detailed clinical phenotypes were recorded, and the COL1A1 and COL1A2 genes were analyzed in 164 Swedish OI families (223 individuals). Averages for bone mineral density (BMD), height and yearly fracture rate were calculated and related to OI and mutation type. N-terminal helical mutations in both the α1- and α2-chains were associated with the absence of dentinogenesis imperfecta (P95% of the complete Swedish pediatric OI population. The prevalence of OI types I, III, and IV was 5.16, 0.89, and 1.35/100 000, respectively (7.40/100 000 overall), corresponding to what has been estimated but not unequivocally proven in any population. Collagen I mutation analysis was performed in the family of 97% of known cases, with causative mutations found in 87%. Qualitative mutations caused 32% of OI type I. The data reported here may be helpful to predict phenotype, and describes for the first time the genetic epidemiology in >95% of an entire OI population.

  19. Host and viral genetic correlates of clinical definitions of HIV-1 disease progression.

    Directory of Open Access Journals (Sweden)

    Concepción Casado

    Full Text Available BACKGROUND: Various patterns of HIV-1 disease progression are described in clinical practice and in research. There is a need to assess the specificity of commonly used definitions of long term non-progressor (LTNP elite controllers (LTNP-EC, viremic controllers (LTNP-VC, and viremic non controllers (LTNP-NC, as well as of chronic progressors (P and rapid progressors (RP. METHODOLOGY AND PRINCIPAL FINDINGS: We re-evaluated the HIV-1 clinical definitions, summarized in Table 1, using the information provided by a selected number of host genetic markers and viral factors. There is a continuous decrease of protective factors and an accumulation of risk factors from LTNP-EC to RP. Statistical differences in frequency of protective HLA-B alleles (p-0.01, HLA-C rs9264942 (p-0.06, and protective CCR5/CCR2 haplotypes (p-0.02 across groups, and the presence of viruses with an ancestral genotype in the "viral dating" (i.e., nucleotide sequences with low viral divergence from the most recent common ancestor support the differences among principal clinical groups of HIV-1 infected individuals. CONCLUSIONS: A combination of host genetic and viral factors supports current clinical definitions that discriminate among patterns of HIV-1 progression. The study also emphasizes the need to apply a standardized and accepted set of clinical definitions for the purpose of disease stratification and research.

  20. Geographic tongue and psoriasis: clinical, histopathological, immunohistochemical and genetic correlation - a literature review*

    Science.gov (United States)

    Picciani, Bruna Lavinas Sayed; Domingos, Tábata Alves; Teixeira-Souza, Thays; dos Santos, Vanessa de Carla Batista; Gonzaga, Heron Fernando de Sousa; Cardoso-Oliveira, Juliana; Gripp, Alexandre Carlos; Dias, Eliane Pedra; Carneiro, Sueli

    2016-01-01

    Geographic tongue is a chronic, inflammatory, and immune-mediated oral lesion of unknown etiology. It is characterized by serpiginous white areas around the atrophic mucosa, which alternation between activity, remission and reactivation at various locations gave the names benign migratory glossitis and wandering rash of the tongue. Psoriasis is a chronic inflammatory disease with frequent cutaneous involvement and an immunogenetic basis of great importance in clinical practice. The association between geographic tongue and psoriasis has been demonstrated in various studies, based on observation of its fundamental lesions, microscopic similarity between the two conditions and the presence of a common genetic marker, human leukocyte antigen (HLA) HLA-C*06. The difficulty however in accepting the diagnosis of geographic tongue as oral psoriasis is the fact that not all patients with geographic tongue present psoriasis. Some authors believe that the prevalence of geographic tongue would be much greater if psoriatic patients underwent thorough oral examination. This study aimed to develop a literature review performed between 1980 and 2014, in which consultation of theses, dissertations and selected scientific articles were conducted through search in Scielo and Bireme databases, from Medline and Lilacs sources, relating the common characteristics between geographic tongue and psoriasis. We observed that the frequency of oral lesions is relatively common, but to establish a correct diagnosis of oral psoriasis, immunohistochemical and genetic histopathological analyzes are necessary, thus highlighting the importance of oral examination in psoriatic patients and cutaneous examination in patients with geographic tongue. PMID:27579734

  1. The role of genetic biases in shaping the correlations between languages and genes.

    Science.gov (United States)

    Dediu, Dan

    2008-09-21

    It has recently been proposed [Dediu, D., Ladd, D.R., 2007. Linguistic tone is related to the population frequency of the adaptive haplogroups of two brain size genes, ASPM and Microcephalin. Proc. Natl Acad. Sci. USA 104(26), 10944-10949] that genetically coded linguistic biases can influence the trajectory of language change. However, the nature of such biases and the conditions under which they can become manifest have remained vague. The present paper explores computationally two plausible types of linguistic acquisition biases in a population of agents implementing realistic genetic, linguistic and demographic processes. One type of bias represents an innate asymmetric initial state (initial expectation bias) while the other an innate asymmetric facility of acquisition (rate of learning bias). It was found that only the second type of bias produces detectable effects on language through cultural transmission across generations and that such effects are produced even by weak biases present at low frequencies in the population. This suggests that learning preference asymmetries, very small at the individual level and not very frequent at the population level, can bias the trajectory of language change through the process of cultural transmission.

  2. Invasive chloroplast population genetics of Mikania micrantha in China: no local adaptation and negative correlation between diversity and geographic distance

    Directory of Open Access Journals (Sweden)

    Ting Wang

    2016-09-01

    Full Text Available Two fundamental questions on how invasive species are able to rapidly colonize novel habitat have emerged. One asks whether a negative correlation exists between the genetic diversity of invasive populations and their geographic distance from the origin of introduction. The other is whether selection on the chloroplast genome is important driver of adaptation to novel soil environments. Here, we addressed these questions in a study of the noxious invasive weed, Mikania micrantha, which has rapidly expanded in to southern China after being introduced to Hong Kong in 1884. Seven cpSSRs were used to investigate population genetics in twenty-eight populations of M. micrantha, which produced thirty-nine loci. The soil compositions for these populations, including Mg abundance, were measured. The results showed that M. micrantha possessed relatively high cpSSR variation and differentiation among populations. Multiple diversity indices were quantified, and none was significantly correlated with distance from the origin of introduction. No evidence for isolation by distance, significant spatial structure, bottlenecks, nor linkage disequilibrium was detected. We also were unable to identify loci on the chloroplast genome that exhibited patterns of differentiation that would suggest adaptive evolution in response to soil attributes. Soil Mg has only a genome-wide effect instead of being a selective factor, which highlighted the association between Mg and the successful invasion. This study characterizes the role of the chloroplast genome of M. micrantha during its recent invasion of southern China.

  3. Correlation between genetic features of the mef(A)-msr(D) locus and erythromycin resistance in Streptococcus pyogenes.

    Science.gov (United States)

    Vitali, Luca Agostino; Di Luca, Maria Chiara; Prenna, Manuela; Petrelli, Dezemona

    2016-01-01

    We investigated the correlation between the genetic variation within mef(A)-msr(D) determinants of efflux-mediated erythromycin resistance in Streptococcus pyogenes and the level of erythromycin resistance. Twenty-eight mef(A)-positive strains were selected according to erythromycin MIC (4-32 μg/mL), and their mef(A)-msr(D) regions were sequenced. Strains were classified according to the bacteriophage carrying mef(A)-msr(D). A new Φm46.1 genetic variant was found in 8 strains out of 28 and named VP_00501.1. Degree of allelic variation was higher in mef(A) than in msr(D). Hotspots for recombination were mapped within the locus that could have shaped the apparent mosaic structure of the region. There was a general correlation between mef(A)-msr(D) sequence and erythromycin resistance level. However, lysogenic conversion of susceptible strains by mef(A)-msr(D)-carrying Φm46.1 indicated that key determinants may not all reside within the mef(A)-msr(D) locus and that horizontal gene transfer could contribute to changes in the level of antibiotic resistance in S. pyogenes.

  4. Heritability and genetic correlations of fear-related behaviour in Red Junglefowl--possible implications for early domestication.

    Science.gov (United States)

    Agnvall, Beatrix; Jöngren, Markus; Strandberg, Erling; Jensen, Per

    2012-01-01

    Domesticated species differ from their wild ancestors in a number of traits, generally referred to as the domesticated phenotype. Reduced fear of humans is assumed to have been an early prerequisite for the successful domestication of virtually all species. We hypothesized that fear of humans is linked to other domestication related traits. For three generations, we selected Red Junglefowl (ancestors of domestic chickens) solely on the reaction in a standardized Fear of Human-test. In this, the birds were exposed for a gradually approaching human, and their behaviour was continuously scored. This generated three groups of animals, high (H), low (L) and intermediate (I) fearful birds. The birds in each generation were additionally tested in a battery of behaviour tests, measuring aspects of fearfulness, exploration, and sociality. The results demonstrate that the variation in fear response of Red Junglefowl towards humans has a significant genetic component and is genetically correlated to behavioural responses in other contexts, of which some are associated with fearfulness and others with exploration. Hence, selection of Red Junglefowl on low fear for humans can be expected to lead to a correlated change of other behavioural traits over generations. It is therefore likely that domestication may have caused an initial suite of behavioural modifications, even without selection on anything besides tameness.

  5. Heritability and genetic correlations of fear-related behaviour in Red Junglefowl--possible implications for early domestication.

    Directory of Open Access Journals (Sweden)

    Beatrix Agnvall

    Full Text Available Domesticated species differ from their wild ancestors in a number of traits, generally referred to as the domesticated phenotype. Reduced fear of humans is assumed to have been an early prerequisite for the successful domestication of virtually all species. We hypothesized that fear of humans is linked to other domestication related traits. For three generations, we selected Red Junglefowl (ancestors of domestic chickens solely on the reaction in a standardized Fear of Human-test. In this, the birds were exposed for a gradually approaching human, and their behaviour was continuously scored. This generated three groups of animals, high (H, low (L and intermediate (I fearful birds. The birds in each generation were additionally tested in a battery of behaviour tests, measuring aspects of fearfulness, exploration, and sociality. The results demonstrate that the variation in fear response of Red Junglefowl towards humans has a significant genetic component and is genetically correlated to behavioural responses in other contexts, of which some are associated with fearfulness and others with exploration. Hence, selection of Red Junglefowl on low fear for humans can be expected to lead to a correlated change of other behavioural traits over generations. It is therefore likely that domestication may have caused an initial suite of behavioural modifications, even without selection on anything besides tameness.

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

    Institute of Scientific and Technical Information of China (English)

    Farafidy ANDRIANTAHINA; LIU Xiaolin; HUANG Hao; XIANG Jianhai

    2012-01-01

    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 offspring were measured by calculating seven body measurings of offspring 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 heritabilities among various 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 offspring generation.Genetic correlations between body weight and body size were highly variable.The results indicate that external morphological parameters can be applied during 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.

  7. Invasive Chloroplast Population Genetics of Mikania micrantha in China: No Local Adaptation and Negative Correlation between Diversity and Geographic Distance.

    Science.gov (United States)

    Wang, Ting; Wang, Zhen; Chen, Guopei; Wang, Chunbo; Su, Yingjuan

    2016-01-01

    Two fundamental questions on how invasive species are able to rapidly colonize novel habitat have emerged. One asks whether a negative correlation exists between the genetic diversity of invasive populations and their geographic distance from the origin of introduction. The other is whether selection on the chloroplast genome is important driver of adaptation to novel soil environments. Here, we addressed these questions in a study of the noxious invasive weed, Mikania micrantha, which has rapidly expanded in to southern China after being introduced to Hong Kong in 1884. Seven chloroplast simple sequence repeats (cpSSRs) were used to investigate population genetics in 28 populations of M. micrantha, which produced 39 loci. The soil compositions for these populations, including Mg abundance, were measured. The results showed that M. micrantha possessed relatively high cpSSR variation and differentiation among populations. Multiple diversity indices were quantified, and none was significantly correlated with distance from the origin of introduction. No evidence for "isolation by distance," significant spatial structure, bottlenecks, nor linkage disequilibrium was detected. We also were unable to identify loci on the chloroplast genome that exhibited patterns of differentiation that would suggest adaptive evolution in response to soil attributes. Soil Mg had only a genome-wide effect instead of being a selective factor, which highlighted the association between Mg and the successful invasion. This study characterizes the role of the chloroplast genome of M. micrantha during its recent invasion of southern China.

  8. 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.

  9. Genetic alterations of triple negative breast cancer by targeted next-generation sequencing and correlation with tumor morphology.

    Science.gov (United States)

    Weisman, Paul S; Ng, Charlotte K Y; Brogi, Edi; Eisenberg, Rachel E; Won, Helen H; Piscuoglio, Salvatore; De Filippo, Maria R; Ioris, Rafael; Akram, Muzaffar; Norton, Larry; Weigelt, Britta; Berger, Michael F; Reis-Filho, Jorge S; Wen, Hannah Y

    2016-05-01

    Triple negative breast cancer represents a heterogeneous group of breast carcinomas, both at the histologic and genetic level. Although recent molecular studies have comprehensively characterized the genetic landscape of these tumors, few have integrated a detailed histologic examination into the analysis. In this study, we defined the genetic alterations in 39 triple negative breast cancers using a high-depth targeted massively parallel sequencing assay and correlated the findings with a detailed morphologic analysis. We obtained representative frozen tissue of primary triple negative breast cancers from patients treated at our institution between 2002 and 2010. We characterized tumors according to their histologic subtype and morphologic features. DNA was extracted from paired frozen primary tumor and normal tissue samples and was subjected to a targeted massively parallel sequencing platform comprising 229 cancer-associated genes common across all experiments. The average number of non-synonymous mutations was 3 (range 0-10) per case. The most frequent somatic alterations were mutations in TP53 (74%) and PIK3CA (10%) and MYC amplifications (26%). Triple negative breast cancers with apocrine differentiation less frequently harbored TP53 mutations (25%) and MYC gains (0%), and displayed a high mutation frequency in PIK3CA and other PI3K signaling pathway-related genes (75%). Using a targeted massively parallel sequencing platform, we identified the key somatic genetic alterations previously reported in triple negative breast cancers. Furthermore, our findings show that triple negative breast cancers with apocrine differentiation constitute a distinct subset, characterized by a high frequency of PI3K pathway alterations similar to luminal subtypes of breast cancer.

  10. GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium

    Science.gov (United States)

    Trampush, J W; Yang, M L Z; Yu, J; Knowles, E; Davies, G; Liewald, D C; Starr, J M; Djurovic, S; Melle, I; Sundet, K; Christoforou, A; Reinvang, I; DeRosse, P; Lundervold, A J; Steen, V M; Espeseth, T; Räikkönen, K; Widen, E; Palotie, A; Eriksson, J G; Giegling, I; Konte, B; Roussos, P; Giakoumaki, S; Burdick, K E; Payton, A; Ollier, W; Horan, M; Chiba-Falek, O; Attix, D K; Need, A C; Cirulli, E T; Voineskos, A N; Stefanis, N C; Avramopoulos, D; Hatzimanolis, A; Arking, D E; Smyrnis, N; Bilder, R M; Freimer, N A; Cannon, T D; London, E; Poldrack, R A; Sabb, F W; Congdon, E; Conley, E D; Scult, M A; Dickinson, D; Straub, R E; Donohoe, G; Morris, D; Corvin, A; Gill, M; Hariri, A R; Weinberger, D R; Pendleton, N; Bitsios, P; Rujescu, D; Lahti, J; Le Hellard, S; Keller, M C; Andreassen, O A; Deary, I J; Glahn, D C; Malhotra, A K; Lencz, T

    2017-01-01

    The complex nature of human cognition has resulted in cognitive genomics lagging behind many other fields in terms of gene discovery using genome-wide association study (GWAS) methods. In an attempt to overcome these barriers, the current study utilized GWAS meta-analysis to examine the association of common genetic variation (~8M single-nucleotide polymorphisms (SNP) with minor allele frequency ⩾1%) to general cognitive function in a sample of 35 298 healthy individuals of European ancestry across 24 cohorts in the Cognitive Genomics Consortium (COGENT). In addition, we utilized individual SNP lookups and polygenic score analyses to identify genetic overlap with other relevant neurobehavioral phenotypes. Our primary GWAS meta-analysis identified two novel SNP loci (top SNPs: rs76114856 in the CENPO gene on chromosome 2 and rs6669072 near LOC105378853 on chromosome 1) associated with cognitive performance at the genome-wide significance level (P<5 × 10−8). Gene-based analysis identified an additional three Bonferroni-corrected significant loci at chromosomes 17q21.31, 17p13.1 and 1p13.3. Altogether, common variation across the genome resulted in a conservatively estimated SNP heritability of 21.5% (s.e.=0.01%) for general cognitive function. Integration with prior GWAS of cognitive performance and educational attainment yielded several additional significant loci. Finally, we found robust polygenic correlations between cognitive performance and educational attainment, several psychiatric disorders, birth length/weight and smoking behavior, as well as a novel genetic association to the personality trait of openness. These data provide new insight into the genetics of neurocognitive function with relevance to understanding the pathophysiology of neuropsychiatric illness. PMID:28093568

  11. Hierarchical structure of genetic distances: Effects of matrix size, spatial distribution and correlation structure among gene frequencies

    Directory of Open Access Journals (Sweden)

    Flávia Melo Rodrigues

    1998-06-01

    Full Text Available Geographic structure of genetic distances among local populations within species, based on allozyme data, has usually been evaluated by estimating genetic distances clustered with hierarchical algorithms, such as the unweighted pair-group method by arithmetic averages (UPGMA. The distortion produced in the clustering process is estimated by the cophenetic correlation coefficient. This hierarchical approach, however, can fail to produce an accurate representation of genetic distances among populations in a low dimensional space, especially when continuous (clinal or reticulate patterns of variation exist. In the present study, we analyzed 50 genetic distance matrices from the literature, for animal taxa ranging from Platyhelminthes to Mammalia, in order to determine in which situations the UPGMA is useful to understand patterns of genetic variation among populations. The cophenetic correlation coefficients, derived from UPGMA based on three types of genetic distance coefficients, were correlated with other parameters of each matrix, including number of populations, loci, alleles, maximum geographic distance among populations, relative magnitude of the first eigenvalue of covariance matrix among alleles and logarithm of body size. Most cophenetic correlations were higher than 0.80, and the highest values appeared for Nei's and Rogers' genetic distances. The relationship between cophenetic correlation coefficients and the other parameters analyzed was defined by an "envelope space", forming triangles in which higher values of cophenetic correlations are found for higher values in the parameters, though low values do not necessarily correspond to high cophenetic correlations. We concluded that UPGMA is useful to describe genetic distances based on large distance matrices (both in terms of elevated number of populations or alleles, when dimensionality of the system is low (matrices with large first eigenvalues or when local populations are separated

  12. Genetic variation in caveolin-1 correlates with long-term pancreas transplant function.

    Science.gov (United States)

    Hamilton, A; Mittal, S; Barnardo, M C N M; Fuggle, S V; Friend, P; Gough, S C L; Simmonds, M J

    2015-05-01

    Pancreas transplantation is a successful treatment for a selected group of people with type 1 diabetes. Continued insulin production can decrease over time and identifying predictors of long-term graft function is key to improving survival. The aim of this study was to screen subjects for variation in the Caveolin-1 gene (Cav1), previously shown to correlate with long-term kidney transplant function. We genotyped 435 pancreas transplant donors and 431 recipients who had undergone pancreas transplantation at the Oxford Transplant Centre, UK, for all known common variation in Cav1. Death-censored cumulative events were analyzed using Kaplan-Meier and Cox regression. Unlike kidney transplantation, the rs4730751 variant in our pancreas donors or transplant recipients did not correlate with long-term graft function (p = 0.331-0.905). Presence of rs3801995 TT genotype (p = 0.009) and rs9920 CC/CT genotype (p = 0.010) in our donors did however correlate with reduced long-term graft survival. Multivariate Cox regression (adjusted for donor and recipient transplant factors) confirmed the association of rs3801995 (p = 0.009, HR = 1.83;[95% CI = 1.16-2.89]) and rs9920 (p = 0.037, HR = 1.63; [95% CI = 1.03-2.73]) with long-term graft function. This is the first study to provide evidence that donor Cav1 genotype correlates with long-term pancreas graft function. Screening Cav1 in other datasets is required to confirm these pilot results. © Copyright 2015 The American Society of Transplantation and the American Society of Transplant Surgeons.

  13. Killing by Type VI secretion drives genetic phase separation and correlates with increased cooperation

    Science.gov (United States)

    McNally, Luke; Bernardy, Eryn; Thomas, Jacob; Kalziqi, Arben; Pentz, Jennifer; Brown, Sam P.; Hammer, Brian K.; Yunker, Peter J.; Ratcliff, William C.

    2017-02-01

    By nature of their small size, dense growth and frequent need for extracellular metabolism, microbes face persistent public goods dilemmas. Genetic assortment is the only general solution stabilizing cooperation, but all known mechanisms structuring microbial populations depend on the availability of free space, an often unrealistic constraint. Here we describe a class of self-organization that operates within densely packed bacterial populations. Through mathematical modelling and experiments with Vibrio cholerae, we show how killing adjacent competitors via the Type VI secretion system (T6SS) precipitates phase separation via the `Model A' universality class of order-disorder transition mediated by killing. We mathematically demonstrate that T6SS-mediated killing should favour the evolution of public goods cooperation, and empirically support this prediction using a phylogenetic comparative analysis. This work illustrates the twin role played by the T6SS, dealing death to local competitors while simultaneously creating conditions potentially favouring the evolution of cooperation with kin.

  14. Molecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone density.

    Science.gov (United States)

    Arnheim, Efrat; Chicco, Gaya; Phillips, Mici; Lebel, Ehud; Foldes, A Joseph; Itzchaki, Menachem; Elstein, Deborah; Zimran, Ari; Altarescu, Gheona

    2008-07-01

    Bone-related complications in Gaucher disease are considered to be poorly responsive to specific enzyme replacement therapy. Polymorphisms of candidate genes associated with low bone density were investigated to see whether they are correlated with bone mineral density (BMD) and bone involvement in Gaucher disease. Genotyping for polymorphisms in candidate genes (interleukins 1alpha and 1beta, interleukin-1 receptor antagonist; cytochrome P450; collagen 1A1; low-density Lipoprotein Receptor; bone morphogenic protein 4; vitamin D receptor; and estrogen receptor 2beta) were performed using standard methodologies. BMD was measured by dual energy X-ray absorptiometry (DXA). One hundred and ninety-four patients and 100 controls were genotyped for the above polymorphisms. Thirteen haplotypes were obtained, with several correlations with BMD in patients; also, a haplotype (T889-T3954-C511-240VNTR of IL1) was significantly correlated with T-scores and Z-score for femur neck and lumbar spine (p = 0.01) in patients. Haplotypes of bone-specific candidate genes associated with BMD may predict severity of these features in Gaucher disease.

  15. Correlation of Klebsiella pneumoniae comparative genetic analyses with virulence profiles in a murine respiratory disease model.

    Directory of Open Access Journals (Sweden)

    Ramy A Fodah

    Full Text Available Klebsiella pneumoniae is a bacterial pathogen of worldwide importance and a significant contributor to multiple disease presentations associated with both nosocomial and community acquired disease. ATCC 43816 is a well-studied K. pneumoniae strain which is capable of causing an acute respiratory disease in surrogate animal models. In this study, we performed sequencing of the ATCC 43816 genome to support future efforts characterizing genetic elements required for disease. Furthermore, we performed comparative genetic analyses to the previously sequenced genomes from NTUH-K2044 and MGH 78578 to gain an understanding of the conservation of known virulence determinants amongst the three strains. We found that ATCC 43816 and NTUH-K2044 both possess the known virulence determinant for yersiniabactin, as well as a Type 4 secretion system (T4SS, CRISPR system, and an acetonin catabolism locus, all absent from MGH 78578. While both NTUH-K2044 and MGH 78578 are clinical isolates, little is known about the disease potential of these strains in cell culture and animal models. Thus, we also performed functional analyses in the murine macrophage cell lines RAW264.7 and J774A.1 and found that MGH 78578 (K52 serotype was internalized at higher levels than ATCC 43816 (K2 and NTUH-K2044 (K1, consistent with previous characterization of the antiphagocytic properties of K1 and K2 serotype capsules. We also examined the three K. pneumoniae strains in a novel BALB/c respiratory disease model and found that ATCC 43816 and NTUH-K2044 are highly virulent (LD50<100 CFU while MGH 78578 is relatively avirulent.

  16. Neuropathological and genetic correlates of survival and dementia onset in synucleinopathies: a retrospective analysis

    Science.gov (United States)

    Irwin, David J.; Grossman, Murray; Weintraub, Daniel; Hurtig, Howard I.; Duda, John E.; Xie, Sharon X.; Lee, Edward B.; Van Deerlin, Vivianna M.; Lopez, Oscar L.; Kofler, Julia K.; Nelson, Peter T.; Jicha, Gregory A.; Woltjer, Randy; Quinn, Joseph F.; Kaye, Jeffery; Leverenz, James B; Tsuang, Debby; Longfellow, Katelan; Yearout, Dora; Kukull, Walter; Keene, C. Dirk; Montine, Thomas J.; Zabetian, Cyrus P.; Trojanowski, John Q.

    2016-01-01

    Background There exists great heterogeneity in patient survival and the time interval between motor symptom and dementia onset (MDI) across Lewy body spectrum disorders (LBSD). The goal of this study is to identify genetic and pathological findings that have the strongest association with these features of clinical heterogeneity in LBSD. Methods In this retrospective study, we examined symptom onset, and genetic and neuropathological data from a cohort of LBSD patients with autopsy-confirmed α-synucleinopathy (as of Oct 1, 2015) recruited from 5 clinical research centres in 5 cities in the USA. Using histopathology techniques and markers, we assessed the burden of tau neurofibrillary tangles, neuritic plaques, α-synuclein inclusions, and other pathologic changes in cortical regions using averaged ordinal scores and genotyped cases for variants associated with LBSD. We evaluated the time interval from onset of motor symptoms to dementia (MDI) and overall survival in groups with varying levels of co-morbid Alzheimer’s disease pathology (AD) according to current National Institute on Aging–Alzheimer’s Association neuropathological criteria and used multivariate regression to control for age at death and gender. Findings This study included 213 patients who had been followed to autopsy and met inclusion criteria of clinical LBSD with autopsy-confirmed α-synculeinopathy. Patient groups were characterized by no (n=49,23%), low-level (n=56,26%), intermediate-level (n=45,21%) or high-level (n=63,30%) AD neuropathology. Across groups of increasing levels of AD neuropathology, there were higher cerebral α-synuclein scores, shorter MDI, and shorter disease duration (pdiagnostic criteria which use reliable biomarkers for AD neuropathology in LBSD should help identify the most appropriate patients for clinical trials of emerging therapies targeting tau, amyloid-beta or α-synuclein, and stratify them by level of AD neuropathology. Funding NIH (NIA/NINDS). PMID

  17. Genetic correlations between brain volumes and the WAIS-III dimensions of verbal comprehension, working memory, perceptual organization, and processing speed

    DEFF Research Database (Denmark)

    Posthuma, Daniëlle; Baare, Wim F.C.; Hulshoff Pol, Hilleke E.;

    2003-01-01

    to cerebellar volume. Verbal Comprehension was not related to any of the three brain volumes. It is concluded that brain volumes are genetically related to intelligence which suggests that genes that influence brain volume may also be important for intelligence. It is also noted however, that the direction......We recently showed that the correlation of gray and white matter volume with full scale IQ and the Working Memory dimension are completely mediated by common genetic factors (Posthuma et al., 2002). Here we examine whether the other WAIS III dimensions (Verbal Comprehension, Perceptual Organization...... to Working Memory capacity (r = 0.27). This phenotypic correlation is completely due to a common underlying genetic factor. Processing Speed was genetically related to white matter volume (r(g) = 0.39). Perceptual Organization was both genetically (r(g) = 0.39) and environmentally (r(e) = -0.71) related...

  18. Genetic correlations for litter weight weaned with growth, prolificacy, and wool traits in Columbia, Polypay, Rambouillet, and Targhee sheep.

    Science.gov (United States)

    Bromley, C M; Van Vleck, L D; Snowder, G D

    2001-02-01

    Total litter weight weaned at 120 d postpartum per ewe lambing is often believed to be a measure of range ewe productivity. Genetic correlations for litter weight weaned at 120 d with prolificacy, growth, and wool traits for Columbia, Polypay, Rambouillet, and Targhee sheep were estimated using REML with animal models. Observations per breed ranged from 5,140 to 7,083 for litter weight weaned, from 5,140 to 7,095 for prolificacy traits, from 7,750 to 9,530 for growth traits, and from 4,603 to 18,443 for wool traits. Heritability estimates for litter weight weaned were low and ranged from 0.02 to 0.11. Fraction of variance due to permanent environmental effects averaged 0.05 and, due to effects of mates, averaged 0.01. Estimates of genetic correlations with litter weight weaned varied from breed to breed. The ranges were as follows: 0.42 to 0.65 with litter size born, 0.80 to 0.99 with litter size weaned, -0.22 to 0.28 with birth weight, -0.07 to 0.23 with average daily gain to weaning, -0.56 to 0.19 with fleece weight, -0.15 to 0.02 with fleece grade, and -0.11 to 0.08 with staple length. Results suggest that, if selection were practiced on litter weight weaned, the average correlated responses would be expected to be favorable or neutral for prolificacy, growth, and wool traits although responses might vary from breed to breed.

  19. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

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

  20. Pulmonary mucinous adenocarcinomas: architectural patterns in correlation with genetic changes, prognosis and survival.

    Science.gov (United States)

    Geles, Abidin; Gruber-Moesenbacher, Ulrike; Quehenberger, Franz; Manzl, Claudia; Al Effah, Mohamed; Grygar, Elisabeth; Juettner-Smolle, Freyja; Popper, Helmut H

    2015-12-01

    Of pulmonary adenocarcinomas, about 25-30 % of cases is of a mucinous type. Mucinous adenocarcinomas are regarded as more aggressive compared to their non-mucinous counterparts. Invasive mucinous adenocarcinoma, colloid, and enteric adenocarcinomas are variants within adenocarcinomas. We investigated 76 invasive mucinous adenocarcinomas, including colloid variants, for predominant and secondary patterns, their different form of mucin storage and release, expression of cytokeratin 7 and 20, TTF1 and CDX2, MUC1, 2, and 5AC proteins, p14 and p16 proteins, possible rearrangements for EML4ALK and ROS1, as well as KRAS mutational status, and correlated this with survival. For comparison, 259 non-mucinous adenocarcinomas were selected. Overall survival for invasive mucinous adenocarcinomas corrected for T and N stage was not different from their non-mucinous counterpart. Most were of an acinar pattern. Neither pattern, nor type of mucin storage and release, such as luminal, extracellular, or goblet cell type had any influence on survival. Of adenocarcinomas expressing CK20, all but one expressed TTF1 either strongly or at least focally, and 8 co-expressed CDX2 focally. Most mucinous adenocarcinomas expressed either MUC1 or MUC5AC proteins, but rarely MUC2, while a few cases co-expressed both or all three. Loss of p16 expression correlated with worse outcome. KRAS mutation was found in 56 % of mucinous adenocarcinomas. Mutational status was neither correlated with architectural pattern nor survival. Codon 12 mutations were most frequent, and one case presented with KRAS mutations in codon 12 and 61. Goblet cell variants of mucinous adenocarcinomas presented predominantly with codon 12 mutations, while all colloid variants had KRAS mutation. Two cases had EML4 and ALK1 rearranged; ROS1 rearrangement was not found. Mucinous adenocarcinomas behave similar to non-mucinous variants. TNM stage is the most important factor followed by p16 loss predicting overall survival.

  1. Considerations of correlated fertility between genders on genetic diversity: the Pinus densiflora seed orchard as a model.

    Science.gov (United States)

    Kang, K.-S.; El-Kassaby, A.

    2002-12-01

    The correlation between 99 clone female and male fertilities in a first generation seed orchard of Pinus densiflora was studied over 6 years. The effective number of the parent ( N(p)) and the variance effective population number [ N(e)((v))] were used to assess the impact of total (Psi(T)), female (psi(f)) and male (psi(m)) fertility variation. A theoretical framework was developed to account for female and male fertility correlations as well as the impact of possible pollen contamination. Total fertility variation was described by the sibling coefficient (Psi(T): the probability that two genes randomly chosen from the gamete gene pool originate from the same parent), which was further subdivided into psi(f) and psi(m). These parameters were compared under various conditions including the total seed harvest, imposing on equal seed harvest among the orchard's clones and two contamination scenarios ( M = 0 and 20%). Fertility variations among females, males and clones were observed within and among years. Sibling coefficients (Psi(T)) were lower, but the effective number of parent ( N(p)) and variance effective population number ( N(e)((v))) were higher in years with moderate female and good male strobilus production. N(p) for female and male reproductive outputs varied from 49 to 82 and from 57 to 93, respectively. N(p) was higher for males than females. When the crop of the 6 years was pooled, N(p) for female, male and the clone were 73, 87 and 85, respectively. The impact of female-male fertility correlation for conditions with no-, positive- and negative-correlations were assessed and their impact on Psi(T), N(p) and N(e)((v)) was also evaluated. It was demonstrated that the practice of equal seed harvesting from every clone, or the mixing of seeds from several years, would substantially improve the genetic diversity and the genetic representation of the seed orchard population when a positive correlation between gender fertilities was observed. The relevance of

  2. Correlation between Diabetes Mellitus and Thyroid Dysfunction: Genetic Basis and Literature Review

    Directory of Open Access Journals (Sweden)

    EKPE Ekpe Lawson

    2016-04-01

    Full Text Available Background: Co-existence of both thyroid dysfunction and diabetes mellitus is increasing in prevalence and is seen among many patients. The reason for this co-existence is not well known. Many different studies have been performed globally to ascertain this relationship. Aim: The aim of this study was to access the correlation between thyroid dysfunction and Type 1 and 2 diabetes mellitus. Method: Using internet search, a comprehensive literature review was done and words such as diabetes mellitus, thyroid, hypothyroidism, hyperthyroidism, thyroid antibodies, and thyroid problems were searched from Google scholar, Yahoo, PubMed, Medline, Web MD, and Scopus to check for various articles published on any probable link. The references of the relevant articles on this subject were also searched for further information. Results: Analyses of results of various studies from various parts of the world were considered and their prevalence was noted to access the correlation between thyroid dysfunction and diabetes mellitus. Subclinical hypothyroidism is seen as the commonest thyroid problem among female type 1diabetes. Conclusion: There is a strong relationship between thyroid dysfunction and Type 1 and 2 diabetes mellitus.   KEYWORDS:  Thyroid; Type 1diabetes; Antibodies; Type 2 diabetes; Dysfunction

  3. Killing by Type VI secretion drives genetic phase separation and correlates with increased cooperation

    Science.gov (United States)

    McNally, Luke; Bernardy, Eryn; Thomas, Jacob; Kalziqi, Arben; Pentz, Jennifer; Brown, Sam P.; Hammer, Brian K.; Yunker, Peter J.; Ratcliff, William C.

    2017-01-01

    By nature of their small size, dense growth and frequent need for extracellular metabolism, microbes face persistent public goods dilemmas. Genetic assortment is the only general solution stabilizing cooperation, but all known mechanisms structuring microbial populations depend on the availability of free space, an often unrealistic constraint. Here we describe a class of self-organization that operates within densely packed bacterial populations. Through mathematical modelling and experiments with Vibrio cholerae, we show how killing adjacent competitors via the Type VI secretion system (T6SS) precipitates phase separation via the ‘Model A' universality class of order-disorder transition mediated by killing. We mathematically demonstrate that T6SS-mediated killing should favour the evolution of public goods cooperation, and empirically support this prediction using a phylogenetic comparative analysis. This work illustrates the twin role played by the T6SS, dealing death to local competitors while simultaneously creating conditions potentially favouring the evolution of cooperation with kin. PMID:28165005

  4. Genetic Correlates of Individual Differences in Sleep Behavior of Free-Living Great Tits (Parus major

    Directory of Open Access Journals (Sweden)

    Erica F. Stuber

    2016-03-01

    Full Text Available Within populations, free-living birds display considerable variation in observable sleep behaviors, reflecting dynamic interactions between individuals and their environment. Genes are expected to contribute to repeatable between-individual differences in sleep behaviors, which may be associated with individual fitness. We identified and genotyped polymorphisms in nine candidate genes for sleep, and measured five repeatable sleep behaviors in free-living great tits (Parus major, partly replicating a previous study in blue tits (Cyanistes caeruleus. Microsatellites in the CLOCK and NPAS2 clock genes exhibited an association with sleep duration relative to night length, and morning latency to exit the nest box, respectively. Furthermore, microsatellites in the NPSR1 and PCSK2 genes associated with relative sleep duration and proportion of time spent awake at night, respectively. Given the detection rate of associations in the same models run with random markers instead of candidate genes, we expected two associations to arise by chance. The detection of four associations between candidate genes and sleep, however, suggests that clock genes, a clock-related gene, or a gene involved in the melanocortin system, could play key roles in maintaining phenotypic variation in sleep behavior in avian populations. Knowledge of the genetic architecture underlying sleep behavior in the wild is important because it will enable ecologists to assess the evolution of sleep in response to selection.

  5. Genetic Correlates of Individual Differences in Sleep Behavior of Free-Living Great Tits (Parus major).

    Science.gov (United States)

    Stuber, Erica F; Baumgartner, Christine; Dingemanse, Niels J; Kempenaers, Bart; Mueller, Jakob C

    2016-01-06

    Within populations, free-living birds display considerable variation in observable sleep behaviors, reflecting dynamic interactions between individuals and their environment. Genes are expected to contribute to repeatable between-individual differences in sleep behaviors, which may be associated with individual fitness. We identified and genotyped polymorphisms in nine candidate genes for sleep, and measured five repeatable sleep behaviors in free-living great tits (Parus major), partly replicating a previous study in blue tits (Cyanistes caeruleus). Microsatellites in the CLOCK and NPAS2 clock genes exhibited an association with sleep duration relative to night length, and morning latency to exit the nest box, respectively. Furthermore, microsatellites in the NPSR1 and PCSK2 genes associated with relative sleep duration and proportion of time spent awake at night, respectively. Given the detection rate of associations in the same models run with random markers instead of candidate genes, we expected two associations to arise by chance. The detection of four associations between candidate genes and sleep, however, suggests that clock genes, a clock-related gene, or a gene involved in the melanocortin system, could play key roles in maintaining phenotypic variation in sleep behavior in avian populations. Knowledge of the genetic architecture underlying sleep behavior in the wild is important because it will enable ecologists to assess the evolution of sleep in response to selection.

  6. Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations.

    Science.gov (United States)

    Gómez-Tortosa, Estrella; Barquero, Sagrario; Barón, Manuel; Gil-Neciga, Eulogio; Castellanos, Fernando; Zurdo, Martín; Manzano, Sagrario; Muñoz, David G; Jiménez-Huete, Adolfo; Rábano, Alberto; Sainz, M José; Guerrero, Rosa; Gobernado, Isabel; Pérez-Pérez, Julián; Jiménez-Escrig, Adriano

    2010-01-01

    We describe the clinical phenotype of nine kindred with presenile Alzheimer's disease (AD) caused by different presenilin 1 (PS1) point mutations, and compare them with reported families with mutations in the same codons. Mutations were in exon 4 (Phe105Val), exon 5 (Pro117Arg, Glu120Gly), exon 6 (His163Arg), exon 7 (Leu226Phe), exon 8 (Val261Leu, Val272Ala, Leu282Arg), and exon 12 (Ile439Ser). Three of these amino acid changes (Phe105Val, Glu120Gly, and Ile439Ser) had not been previously reported. Distinct clinical features, including age of onset, symptoms and signs associated with the cortical-type dementia and aggressiveness of the disease, characterized the different mutations and were quite homogeneous across family members. Age of onset fell within a consistent range: some mutations caused the disease in the thirties (P117R, L226F, V272A), other in the forties (E120G, H163R, V261L, L282R), and other in the fifties (F105V, I439S). Associated features also segregated with specific mutations: early epileptic activity (E120G), spastic paraparesis (V261L), subcortical dementia and parkinsonism (V272A), early language impairment, frontal signs, and myoclonus (L226F), and late myoclonus and seizures (H163R, L282R). Neurological deterioration was particularly aggressive in PS1 mutations with earlier age of onset such as P117R, L226F, and E120G. With few exceptions, a similar clinical phenotype was found in families reported to have either the same mutation or different amino acid changes in the same codons. This series points to a strong influence of the specific genetic defect in the development of the clinical phenotype.

  7. Geographical and longitudinal analysis of Listeria monocytogenes genetic diversity reveals its correlation with virulence and unique evolution.

    Science.gov (United States)

    Yin, Yuelan; Tan, Weijun; Wang, Guoliang; Kong, Suwei; Zhou, Xiaohui; Zhao, Dan; Jia, Yanyan; Pan, Zhiming; Jiao, Xin'an

    2015-06-01

    Listeria monocytogenes is one of the most important foodborne pathogens causing severe diseases with a mortality rate of 24%. However, the genetic diversity and evolution of L. monocytogenes, particularly at the worldwide level, are poorly defined. In this study, we performed multilocus sequence typing (MLST) and multi virulence locus sequence typing (MVLST) for 86 L. monocytogenes strains derived from 8 countries from 1926 to 2012 in order to better understand the molecular evolution and genetic characteristics of this pathogen. A total of 13 clonal complexes (CCs) were detected, of which CC1, CC2, CC3, CC7, CC9, CC4 are the most prevalent. Notably, polymorphism of housekeeping genes of isolates belong to CC1 (STs = 47) increased more rapidly over the time. MLST-based phylogenetic analysis showed that serotype 1/2b and 4b strains had an "interval-type" evolution pattern, while serotype 1/2a and 1/2c strains had a "progressive-type" evolution pattern. Furthermore, strains from temporally and geographically unrelated outbreaks in different countries were clustered in the same subgroup of phylogenetic tree, indicating that that L. monocytogenes developed highly similar virulence genes and genetic characteristics to adaptation in a special ecological niche. Interestingly, there was a high correlation between the population structure of MVLST and MLST among the isolates of cluster IA corresponding to CC1, CC2, CC4 and CC6 that had the highest potential to cause listeriosis outbreaks, strengthening that surveillance of these CCs is important for prevention of listeriosis. The present study offers insights into the internal relationships between the population structure, distribution and pathogenicity of L. monocytogenes. Copyright © 2015 Elsevier GmbH. All rights reserved.

  8. Phenotypic and Genetic Correlations of Feed Efficiency Traits with Growth and Carcass Traits in Nellore Cattle Selected for Postweaning Weight

    Science.gov (United States)

    Ceacero, Thais Matos; Mercadante, Maria Eugênia Zerlotti; Cyrillo, Joslaine Noely dos Santos Gonçalves; Canesin, Roberta Carrilho; Bonilha, Sarah Figueiredo Martins; de Albuquerque, Lucia Galvão

    2016-01-01

    This study evaluated phenotypic (rph) and genetic correlations (rg) between 8 feed efficiency traits and other traits of economic interest including weight at selection (WS), loin-eye area (LEA), backfat thickness (BF), and rump fat thickness (RF) in Nellore cattle. Feed efficiency traits were gain:feed, residual feed intake (RFI), residual feed intake adjusted for backfat thickness (RFIb) and for backfat and rump fat thickness (RFIsf), residual body weight gain (RG), residual intake and body weight gain (RIG), and residual intake and body weight gain using RFIb (RIGb) and RFIsf (RIGsf). The variance components were estimated by the restricted maximum likelihood method using a two-trait animal model. The heritability estimates (h2) were 0.14, 0.24, 0.20, 0.22, 0.19, 0.15, 0.11 and 0.11 for gain:feed, RFI, RFIb, RFIsf, RG, RIG, RIGb and RIGsf, respectively. All rph values between traits were close to zero, except for the correlation of feed efficiency traits with dry matter intake and average daily gain. High rg values were observed for the correlation of dry matter intake, average daily gain and metabolic weight with WS and hip height (>0.61) and low to medium values (0.15 to 0.48) with the carcass traits (LEA, BF, RF). Among the feed efficiency traits, RG showed the highest rg with WS and hip height (0.34 and 0.25) and the lowest rg with subcutaneous fat thickness (-0.17 to 0.18). The rg values of RFI, RFIb and RFIsf with WS (0.17, 0.23 and 0.22), BF (0.37, 0.33 and 0.33) and RF (0.30, 0.31 and 0.32) were unfavorable. The rg values of gain:feed, RIG, RIGb and RIGsf with WS were low and favorable (0.07 to 0.22), while medium and unfavorable (-0.22 to -0.45) correlations were observed with fat thickness. The inclusion of subcutaneous fat thickness in the models used to calculate RFI did not reduce the rg between these traits. Selecting animals for higher feed efficiency will result in little or no genetic change in growth and will decrease subcutaneous fat thickness

  9. Sex-linked inheritance, genetic correlations and sexual dimorphism in three melanin-based colour traits in the barn owl.

    Science.gov (United States)

    Roulin, A; Jensen, H

    2015-03-01

    Theory states that genes on the sex chromosomes have stronger effects on sexual dimorphism than genes on the autosomes. Although empirical data are not necessarily consistent with this theory, this situation may prevail because the relative role of sex-linked and autosomally inherited genes on sexual dimorphism has rarely been evaluated. We estimated the quantitative genetics of three sexually dimorphic melanin-based traits in the barn owl (Tyto alba), in which females are on average darker reddish pheomelanic and display more and larger black eumelanic feather spots than males. The plumage traits with higher sex-linked inheritance showed lower heritability and genetic correlations, but contrary to prediction, these traits showed less pronounced sexual dimorphism. Strong offspring sexual dimorphism primarily resulted from daughters not expressing malelike melanin-based traits and from sons expressing femalelike traits to similar degrees as their sisters. We conclude that in the barn owl, polymorphism at autosomal genes rather than at sex-linked genes generate variation in sexual dimorphism in melanin-based traits.

  10. PLTP activity inversely correlates with CAAD: effects of PON1 enzyme activity and genetic variants on PLTP activity.

    Science.gov (United States)

    Kim, Daniel Seung; Burt, Amber A; Ranchalis, Jane E; Vuletic, Simona; Vaisar, Tomas; Li, Wan-Fen; Rosenthal, Elisabeth A; Dong, Weijiang; Eintracht, Jason F; Motulsky, Arno G; Brunzell, John D; Albers, John J; Furlong, Clement E; Jarvik, Gail P

    2015-07-01

    Recent studies have failed to demonstrate a causal cardioprotective effect of HDL cholesterol levels, shifting focus to the functional aspects of HDL. Phospholipid transfer protein (PLTP) is an HDL-associated protein involved in reverse cholesterol transport. This study sought to determine the genetic and nongenetic predictors of plasma PLTP activity (PLTPa), and separately, to determine whether PLTPa predicted carotid artery disease (CAAD). PLTPa was measured in 1,115 European ancestry participants from a case-control study of CAAD. A multivariate logistic regression model was used to elucidate the relationship between PLTPa and CAAD. Separately, a stepwise linear regression determined the nongenetic clinical and laboratory characteristics that best predicted PLTPa. A final stepwise regression considering both nongenetic and genetic variables identified the combination of covariates that explained maximal PLTPa variance. PLTPa was significantly associated with CAAD (7.90 × 10(-9)), with a 9% decrease in odds of CAAD per 1 unit increase in PLTPa (odds ratio = 0.91). Triglyceride levels (P = 0.0042), diabetes (P = 7.28 × 10(-5)), paraoxonase 1 (PON1) activity (P = 0.019), statin use (P = 0.026), PLTP SNP rs4810479 (P = 6.38 × 10(-7)), and PCIF1 SNP rs181914932 (P = 0.041) were all significantly associated with PLTPa. PLTPa is significantly inversely correlated with CAAD. Furthermore, we report a novel association between PLTPa and PON1 activity, a known predictor of CAAD.

  11. PLTP activity inversely correlates with CAAD: effects of PON1 enzyme activity and genetic variants on PLTP activity1[S

    Science.gov (United States)

    Kim, Daniel Seung; Burt, Amber A.; Ranchalis, Jane E.; Vuletic, Simona; Vaisar, Tomas; Li, Wan-Fen; Rosenthal, Elisabeth A.; Dong, Weijiang; Eintracht, Jason F.; Motulsky, Arno G.; Brunzell, John D.; Albers, John J.; Furlong, Clement E.; Jarvik, Gail P.

    2015-01-01

    Recent studies have failed to demonstrate a causal cardioprotective effect of HDL cholesterol levels, shifting focus to the functional aspects of HDL. Phospholipid transfer protein (PLTP) is an HDL-associated protein involved in reverse cholesterol transport. This study sought to determine the genetic and nongenetic predictors of plasma PLTP activity (PLTPa), and separately, to determine whether PLTPa predicted carotid artery disease (CAAD). PLTPa was measured in 1,115 European ancestry participants from a case-control study of CAAD. A multivariate logistic regression model was used to elucidate the relationship between PLTPa and CAAD. Separately, a stepwise linear regression determined the nongenetic clinical and laboratory characteristics that best predicted PLTPa. A final stepwise regression considering both nongenetic and genetic variables identified the combination of covariates that explained maximal PLTPa variance. PLTPa was significantly associated with CAAD (7.90 × 10−9), with a 9% decrease in odds of CAAD per 1 unit increase in PLTPa (odds ratio = 0.91). Triglyceride levels (P = 0.0042), diabetes (P = 7.28 × 10−5), paraoxonase 1 (PON1) activity (P = 0.019), statin use (P = 0.026), PLTP SNP rs4810479 (P = 6.38 × 10−7), and PCIF1 SNP rs181914932 (P = 0.041) were all significantly associated with PLTPa. PLTPa is significantly inversely correlated with CAAD. Furthermore, we report a novel association between PLTPa and PON1 activity, a known predictor of CAAD. PMID:26009633

  12. Effect of temperature on the morphological characteristics of Botrytis cinerea and its correlated with the genetic variability

    Institute of Scientific and Technical Information of China (English)

    Jorge G Fernndez; Martn A Fernndez-Baldo; Gabriela Sansone; Viviana Calvente; Delia Benuzzi; Eloy Salinas; Julio Raba; Mara I Sanz

    2014-01-01

    Objective: To study the effect of temperature on the morphological characteristics of Botrytiscinerea (B. cinerea) and its correlated with the genetic variability. B. cinerea is a plant-pathogenic fungus that produces the disease known as grey mould in a wide variety of agriculturally important hosts in many countries.Methods:Six strains from different host collected have been isolated and characterized by several methods as mycelial growth, fungicide resistance, pathogenicity and the effects of the temperature. Also was analyzed by PCR and distinguished by the presence or absence of transposable elements.Results:Results showed that clear morphological differences exist between strains at the temperature of 4, 12 and 28 °C. All strains analyzed molecularly were classified as Group II (transposa-type). Demonstrating a negative correlation between mycelial growth and other characteristics as the fungicide resistance and pathogenicity. Lastly, it is difficult to establish relationships phenotypic and genotypic between strains of B. cinerea.Conclusions:The results indicated that the mycelial growth, resistance at fungicide and pathogenicity are independent of the characteristics molecular, however, are dependent of a factor such as temperature.

  13. Effect of temperature on the morphological characteristics of Botrytis cinerea and its correlated with the genetic variability

    Directory of Open Access Journals (Sweden)

    Jorge G Fernández

    2014-07-01

    Full Text Available Objective: To study the effect of temperature on the morphological characteristics of Botrytis cinerea (B. cinerea and its correlated with the genetic variability. B. cinerea is a plant-pathogenic fungus that produces the disease known as grey mould in a wide variety of agriculturally important hosts in many countries. Methods: Six strains from different host collected have been isolated and characterized by several methods as mycelial growth, fungicide resistance, pathogenicity and the effects of the temperature. Also was analyzed by PCR and distinguished by the presence or absence of transposable elements. Results: Results showed that clear morphological differences exist between strains at the temperature of 4, 12 and 28 °C. All strains analyzed molecularly were classified as Group II (transposa-type. Demonstrating a negative correlation between mycelial growth and other characteristics as the fungicide resistance and pathogenicity. Lastly, it is difficult to establish relationships phenotypic and genotypic between strains of B. cinerea. Conclusions: The results indicated that the mycelial growth, resistance at fungicide and pathogenicity are independent of the characteristics molecular, however, are dependent of a factor such as temperature.

  14. PCR-Free Detection of Genetically Modified Organisms Using Magnetic Capture Technology and Fluorescence Cross-Correlation Spectroscopy

    Science.gov (United States)

    Zhou, Xiaoming; Xing, Da; Tang, Yonghong; Chen, Wei R.

    2009-01-01

    The safety of genetically modified organisms (GMOs) has attracted much attention recently. Polymerase chain reaction (PCR) amplification is a common method used in the identification of GMOs. However, a major disadvantage of PCR is the potential amplification of non-target DNA, causing false-positive identification. Thus, there remains a need for a simple, reliable and ultrasensitive method to identify and quantify GMO in crops. This report is to introduce a magnetic bead-based PCR-free method for rapid detection of GMOs using dual-color fluorescence cross-correlation spectroscopy (FCCS). The cauliflower mosaic virus 35S (CaMV35S) promoter commonly used in transgenic products was targeted. CaMV35S target was captured by a biotin-labeled nucleic acid probe and then purified using streptavidin-coated magnetic beads through biotin-streptavidin linkage. The purified target DNA fragment was hybridized with two nucleic acid probes labeled respectively by Rhodamine Green and Cy5 dyes. Finally, FCCS was used to detect and quantify the target DNA fragment through simultaneously detecting the fluorescence emissions from the two dyes. In our study, GMOs in genetically engineered soybeans and tomatoes were detected, using the magnetic bead-based PCR-free FCCS method. A detection limit of 50 pM GMOs target was achieved and PCR-free detection of GMOs from 5 µg genomic DNA with magnetic capture technology was accomplished. Also, the accuracy of GMO determination by the FCCS method is verified by spectrophotometry at 260 nm using PCR amplified target DNA fragment from GM tomato. The new method is rapid and effective as demonstrated in our experiments and can be easily extended to high-throughput and automatic screening format. We believe that the new magnetic bead-assisted FCCS detection technique will be a useful tool for PCR-free GMOs identification and other specific nucleic acids. PMID:19956680

  15. PCR-free detection of genetically modified organisms using magnetic capture technology and fluorescence cross-correlation spectroscopy.

    Directory of Open Access Journals (Sweden)

    Xiaoming Zhou

    Full Text Available The safety of genetically modified organisms (GMOs has attracted much attention recently. Polymerase chain reaction (PCR amplification is a common method used in the identification of GMOs. However, a major disadvantage of PCR is the potential amplification of non-target DNA, causing false-positive identification. Thus, there remains a need for a simple, reliable and ultrasensitive method to identify and quantify GMO in crops. This report is to introduce a magnetic bead-based PCR-free method for rapid detection of GMOs using dual-color fluorescence cross-correlation spectroscopy (FCCS. The cauliflower mosaic virus 35S (CaMV35S promoter commonly used in transgenic products was targeted. CaMV35S target was captured by a biotin-labeled nucleic acid probe and then purified using streptavidin-coated magnetic beads through biotin-streptavidin linkage. The purified target DNA fragment was hybridized with two nucleic acid probes labeled respectively by Rhodamine Green and Cy5 dyes. Finally, FCCS was used to detect and quantify the target DNA fragment through simultaneously detecting the fluorescence emissions from the two dyes. In our study, GMOs in genetically engineered soybeans and tomatoes were detected, using the magnetic bead-based PCR-free FCCS method. A detection limit of 50 pM GMOs target was achieved and PCR-free detection of GMOs from 5 microg genomic DNA with magnetic capture technology was accomplished. Also, the accuracy of GMO determination by the FCCS method is verified by spectrophotometry at 260 nm using PCR amplified target DNA fragment from GM tomato. The new method is rapid and effective as demonstrated in our experiments and can be easily extended to high-throughput and automatic screening format. We believe that the new magnetic bead-assisted FCCS detection technique will be a useful tool for PCR-free GMOs identification and other specific nucleic acids.

  16. PCR-free detection of genetically modified organisms using magnetic capture technology and fluorescence cross-correlation spectroscopy.

    Science.gov (United States)

    Zhou, Xiaoming; Xing, Da; Tang, Yonghong; Chen, Wei R

    2009-11-26

    The safety of genetically modified organisms (GMOs) has attracted much attention recently. Polymerase chain reaction (PCR) amplification is a common method used in the identification of GMOs. However, a major disadvantage of PCR is the potential amplification of non-target DNA, causing false-positive identification. Thus, there remains a need for a simple, reliable and ultrasensitive method to identify and quantify GMO in crops. This report is to introduce a magnetic bead-based PCR-free method for rapid detection of GMOs using dual-color fluorescence cross-correlation spectroscopy (FCCS). The cauliflower mosaic virus 35S (CaMV35S) promoter commonly used in transgenic products was targeted. CaMV35S target was captured by a biotin-labeled nucleic acid probe and then purified using streptavidin-coated magnetic beads through biotin-streptavidin linkage. The purified target DNA fragment was hybridized with two nucleic acid probes labeled respectively by Rhodamine Green and Cy5 dyes. Finally, FCCS was used to detect and quantify the target DNA fragment through simultaneously detecting the fluorescence emissions from the two dyes. In our study, GMOs in genetically engineered soybeans and tomatoes were detected, using the magnetic bead-based PCR-free FCCS method. A detection limit of 50 pM GMOs target was achieved and PCR-free detection of GMOs from 5 microg genomic DNA with magnetic capture technology was accomplished. Also, the accuracy of GMO determination by the FCCS method is verified by spectrophotometry at 260 nm using PCR amplified target DNA fragment from GM tomato. The new method is rapid and effective as demonstrated in our experiments and can be easily extended to high-throughput and automatic screening format. We believe that the new magnetic bead-assisted FCCS detection technique will be a useful tool for PCR-free GMOs identification and other specific nucleic acids.

  17. Genetic correlations for foal and studbook traits with racing traits and implications for selection strategies in the Finnhorse and Standardbred trotter.

    Science.gov (United States)

    Suontama, M; van der Werf, J H J; Juga, J; Ojala, M

    2013-06-01

    Genetic correlations for body measurements and conformation and functional traits in foals and studbook horses with racing traits were estimated in the Finnhorse and Standardbred. Genetic response and accuracy were estimated using records of animal, half-sibs and parents in selection scenarios for racing traits, for foal and racing traits, for studbook and racing traits, and using records of animal, half-sibs and parents for foal traits and racing traits of parents. Racing time and earnings were the breeding objective. Low-to-moderate genetic correlations for body measurements and racing traits indicated that selection favours bigger horses at all ages. Being mainly favourable for the breeding objective, genetic correlations for conformation and functional traits with racing traits were highest for the foal traits of type, trot and overall grade and for the studbook traits of character and movements. Genetic correlations for foal and studbook conformation with racing traits were low in the Finnhorse and moderate to high in the Standardbred. In foals, the highest genetic correlations were for trot with racing time (-0.54) and with earnings (0.52) in the Finnhorse, and for overall grade with racing time (-0.54) and with earnings (0.54) in the Standardbred. In studbook horses, genetic correlations were high for character with racing time and earnings in the Finnhorse (-0.68, 0.61) and in the Standardbred (-0.63, 0.70), and for movements with racing time and earnings in the Finnhorse (-0.70, 0.69) and in the Standardbred (-0.90, 0.88). To increase accuracy of conformation and functional traits, foal traits would be more useful in the index with racing traits, as being less preselected than studbook traits. The foal traits (type, trot, overall grade) having moderate heritability and genetic correlations with racing traits would be useful in multi-trait index before a racing career, where the greatest gain is because of a shorter generation interval. It would be feasible

  18. Mining Outcome-relevant Brain Imaging Genetic Associations via Three-way Sparse Canonical Correlation Analysis in Alzheimer’s Disease

    Science.gov (United States)

    Hao, Xiaoke; Li, Chanxiu; Du, Lei; Yao, Xiaohui; Yan, Jingwen; Risacher, Shannon L.; Saykin, Andrew J.; Shen, Li; Zhang, Daoqiang; Weiner, Michael W.; Aisen, Paul; Petersen, Ronald; Jack, Clifford R.; Mason, Sara S.; Albers, Colleen S.; Knopman, David; Johnson, Kris; Jagust, William; Trojanowki, John Q.; Toga, Arthur W.; Beckett, Laurel; Green, Robert C.; Farlow, Martin R.; Marie Hake, Ann; Matthews, Brandy R.; Brosch, Jared R.; Herring, Scott; Hunt, Cynthia; Shaw, Leslie M.; Ances, Beau; Morris, John C.; Carroll, Maria; Creech, Mary L.; Franklin, Erin; Mintun, Mark A.; Schneider, Stacy; Oliver, Angela; Kaye, Jeffrey; Quinn, Joseph; Silbert, Lisa; Lind, Betty; Carter, Raina; Dolen, Sara; Schneider, Lon S.; Pawluczyk, Sonia; Beccera, Mauricio; Teodoro, Liberty; Spann, Bryan M.; Brewer, James; Vanderswag, Helen; Fleisher, Adam; Tariot, Pierre; Burke, Anna; Trncic, Nadira; Reeder, Stephanie; Heidebrink, Judith L.; Lord, Joanne L.; Doody, Rachelle S.; Villanueva-Meyer, Javier; Chowdhury, Munir; Rountree, Susan; Dang, Mimi; Stern, Yaakov; Honig, Lawrence S.; Bell, Karen L.; Marson, Daniel; Griffith, Randall; Clark, David; Geldmacher, David; Brockington, John; Roberson, Erik; Love, Marissa Natelson; Grossman, Hillel; Mitsis, Effie; Shah, Raj C.; deToledo-Morrell, Leyla; Duara, Ranjan; Varon, Daniel; Greig, Maria T.; Roberts, Peggy; Albert, Marilyn; Onyike, Chiadi; D’Agostino, Daniel; Kielb, Stephanie; Galvin, James E.; Cerbone, Brittany; Michel, Christina A.; Pogorelec, Dana M.; Rusinek, Henry; de Leon, Mony J.; Glodzik, Lidia; De Santi, Susan; Doraiswamy, P. Murali; Petrella, Jeffrey R.; Borges-Neto, Salvador; Wong, Terence Z.; Coleman, Edward; Smith, Charles D.; Jicha, Greg; Hardy, Peter; Sinha, Partha; Oates, Elizabeth; Conrad, Gary; Porsteinsson, Anton P.; Goldstein, Bonnie S.; Martin, Kim; Makino, Kelly M.; Ismail, M. Saleem; Brand, Connie; Mulnard, Ruth A.; Thai, Gaby; Mc-Adams-Ortiz, Catherine; Womack, Kyle; Mathews, Dana; Quiceno, Mary; Levey, Allan I.; Lah, James J.; Cellar, Janet S.; Burns, Jeffrey M.; Swerdlow, Russell H.; Brooks, William M.; Apostolova, Liana; Tingus, Kathleen; Woo, Ellen; Silverman, Daniel H. S.; Lu, Po H.; Bartzokis, George; Graff-Radford, Neill R.; Parfitt, Francine; Kendall, Tracy; Johnson, Heather; van Dyck, Christopher H.; Carson, Richard E.; MacAvoy, Martha G.; Varma, Pradeep; Chertkow, Howard; Bergman, Howard; Hosein, Chris; Black, Sandra; Stefanovic, Bojana; Caldwell, Curtis; Hsiung, Ging-Yuek Robin; Feldman, Howard; Mudge, Benita; Assaly, Michele; Finger, Elizabeth; Pasternack, Stephen; Rachisky, Irina; Trost, Dick; Kertesz, Andrew; Bernick, Charles; Munic, Donna; Mesulam, Marek-Marsel; Lipowski, Kristine; Weintraub, Sandra; Bonakdarpour, Borna; Kerwin, Diana; Wu, Chuang-Kuo; Johnson, Nancy; Sadowsky, Carl; Villena, Teresa; Turner, Raymond Scott; Johnson, Kathleen; Reynolds, Brigid; Sperling, Reisa A.; Johnson, Keith A.; Marshall, Gad; Yesavage, Jerome; Taylor, Joy L.; Lane, Barton; Rosen, Allyson; Tinklenberg, Jared; Sabbagh, Marwan N.; Belden, Christine M.; Jacobson, Sandra A.; Sirrel, Sherye A.; Kowall, Neil; Killiany, Ronald; Budson, Andrew E.; Norbash, Alexander; Johnson, Patricia Lynn; Obisesan, Thomas O.; Wolday, Saba; Allard, Joanne; Lerner, Alan; Ogrocki, Paula; Tatsuoka, Curtis; Fatica, Parianne; Fletcher, Evan; Maillard, Pauline; Olichney, John; DeCarli, Charles; Carmichael, Owen; Kittur, Smita; Borrie, Michael; Lee, T.-Y.; Bartha, Rob; Johnson, Sterling; Asthana, Sanjay; Carlsson, Cynthia M.; Potkin, Steven G.; Preda, Adrian; Nguyen, Dana; Bates, Vernice; Capote, Horacio; Rainka, Michelle; Scharre, Douglas W.; Kataki, Maria; Adeli, Anahita; Zimmerman, Earl A.; Celmins, Dzintra; Brown, Alice D.; Pearlson, Godfrey D.; Blank, Karen; Anderson, Karen; Flashman, Laura A.; Seltzer, Marc; Hynes, Mary L.; Santulli, Robert B.; Sink, Kaycee M.; Gordineer, Leslie; Williamson, Jeff D.; Garg, Pradeep; Watkins, Franklin; Ott, Brian R.; Querfurth, Henry; Tremont, Geoffrey; Salloway, Stephen; Malloy, Paul; Correia, Stephen; Rosen, Howard J.; Miller, Bruce L.; Perry, David; Mintzer, Jacobo; Spicer, Kenneth; Bachman, David; Pomara, Nunzio; Hernando, Raymundo; Sarrael, Antero; Relkin, Norman; Chaing, Gloria; Lin, Michael; Ravdin, Lisa; Smith, Amanda; Raj, Balebail Ashok; Fargher, Kristin

    2017-01-01

    Neuroimaging genetics is an emerging field that aims to identify the associations between genetic variants (e.g., single nucleotide polymorphisms (SNPs)) and quantitative traits (QTs) such as brain imaging phenotypes. In recent studies, in order to detect complex multi-SNP-multi-QT associations, bi-multivariate techniques such as various structured sparse canonical correlation analysis (SCCA) algorithms have been proposed and used in imaging genetics studies. However, associations between genetic markers and imaging QTs identified by existing bi-multivariate methods may not be all disease specific. To bridge this gap, we propose an analytical framework, based on three-way sparse canonical correlation analysis (T-SCCA), to explore the intrinsic associations among genetic markers, imaging QTs, and clinical scores of interest. We perform an empirical study using the Alzheimer’s Disease Neuroimaging Initiative (ADNI) cohort to discover the relationships among SNPs from AD risk gene APOE, imaging QTs extracted from structural magnetic resonance imaging scans, and cognitive and diagnostic outcomes. The proposed T-SCCA model not only outperforms the traditional SCCA method in terms of identifying strong associations, but also discovers robust outcome-relevant imaging genetic patterns, demonstrating its promise for improving disease-related mechanistic understanding. PMID:28291242

  19. Positive genetic correlation between brain size and sexual traits in male guppies artificially selected for brain size.

    Science.gov (United States)

    Kotrschal, A; Corral-Lopez, A; Zajitschek, S; Immler, S; Maklakov, A A; Kolm, N

    2015-04-01

    Brain size is an energetically costly trait to develop and maintain. Investments into other costly aspects of an organism's biology may therefore place important constraints on brain size evolution. Sexual traits are often costly and could therefore be traded off against neural investment. However, brain size may itself be under sexual selection through mate choice on cognitive ability. Here, we use guppy (Poecilia reticulata) lines selected for large and small brain size relative to body size to investigate the relationship between brain size, a large suite of male primary and secondary sexual traits, and body condition index. We found no evidence for trade-offs between brain size and sexual traits. Instead, larger-brained males had higher expression of several primary and precopulatory sexual traits--they had longer genitalia, were more colourful and developed longer tails than smaller-brained males. Larger-brained males were also in better body condition when housed in single-sex groups. There was no difference in post-copulatory sexual traits between males from the large- and small-brained lines. Our data do not support the hypothesis that investment into sexual traits is an important limiting factor to brain size evolution, but instead suggest that brain size and several sexual traits are positively genetically correlated.

  20. Changes throughout lactation in phenotypic and genetic correlations between methane emissions and milk fatty acid contents predicted from milk mid-infrared spectra

    NARCIS (Netherlands)

    Vanrobays, M.L.; Bastin, C.; Vandenplas, J.; Hammami, H.; Soyeurt, H.; Vanlierde, A.; Dehareng, F.; Froidmont, E.; Gengler, N.

    2016-01-01

    The aim of this study was to estimate phenotypic and genetic correlations between methane production (MP) and milk fatty acid contents of first-parity Walloon Holstein cows throughout lactation. Calibration equations predicting daily MP (g/d) and milk fatty acid contents (g/100 dL of milk) were a

  1. Genetic correlations between dressage, show jumping and studbook-entry inspection traits in a process of specialization in Dutch Warmblood horses

    NARCIS (Netherlands)

    Rovere, G.; Ducro, B.J.; Arendonk, van J.A.M.; Norberg, E.; Madsen, P.

    2016-01-01

    Sport performance in dressage and show jumping are two important traits in the breeding goals of many studbooks. To determine the optimum selection scheme for jumping and dressage, knowledge is needed on the genetic correlation between both disciplines and between traits measured early in life an

  2. Erratum to: Response to selection, heritability and genetic correlations between body weight and body size in Pacific white shrimp, Litopenaeus vannamei

    Institute of Scientific and Technical Information of China (English)

    Farafidy ANDRIANTAHINA; LIU Xiaolin; HUANG Hao; XIANG Jianhai

    2012-01-01

    The original version of the title of this article unfortunately contained a mistake.The spelling of the [ZResponese]was incorrect.The title should read:Response to selection,heritability and genetic correlations between body weight and body size in Pacific white shrimp,Litopenaeus vannamei.The publishing companies apologize to the authors.

  3. Additive genetic variation in resistance of Nile tilapia (Oreochromis niloticus) to Streptococcus iniae and S. agalactiae capsular type Ib: is genetic resistance correlated?

    Science.gov (United States)

    Streptococcus (S.) iniae and S. agalactiae are both economically important Gram positive bacterial pathogens affecting the globally farmed tilapia (Oreochromis spp.). Historically control of these bacteria in tilapia culture has included biosecurity, therapeutants and vaccination strategies. Genet...

  4. Comparative genomics of Brachyspira pilosicoli strains: genome rearrangements, reductions and correlation of genetic compliment with phenotypic diversity

    Directory of Open Access Journals (Sweden)

    Mappley Luke J

    2012-09-01

    Full Text Available Abstract Background The anaerobic spirochaete Brachyspira pilosicoli causes enteric disease in avian, porcine and human hosts, amongst others. To date, the only available genome sequence of B. pilosicoli is that of strain 95/1000, a porcine isolate. In the first intra-species genome comparison within the Brachyspira genus, we report the whole genome sequence of B. pilosicoli B2904, an avian isolate, the incomplete genome sequence of B. pilosicoli WesB, a human isolate, and the comparisons with B. pilosicoli 95/1000. We also draw on incomplete genome sequences from three other Brachyspira species. Finally we report the first application of the high-throughput Biolog phenotype screening tool on the B. pilosicoli strains for detailed comparisons between genotype and phenotype. Results Feature and sequence genome comparisons revealed a high degree of similarity between the three B. pilosicoli strains, although the genomes of B2904 and WesB were larger than that of 95/1000 (~2,765, 2.890 and 2.596 Mb, respectively. Genome rearrangements were observed which correlated largely with the positions of mobile genetic elements. Through comparison of the B2904 and WesB genomes with the 95/1000 genome, features that we propose are non-essential due to their absence from 95/1000 include a peptidase, glycine reductase complex components and transposases. Novel bacteriophages were detected in the newly-sequenced genomes, which appeared to have involvement in intra- and inter-species horizontal gene transfer. Phenotypic differences predicted from genome analysis, such as the lack of genes for glucuronate catabolism in 95/1000, were confirmed by phenotyping. Conclusions The availability of multiple B. pilosicoli genome sequences has allowed us to demonstrate the substantial genomic variation that exists between these strains, and provides an insight into genetic events that are shaping the species. In addition, phenotype screening allowed determination of how

  5. Gene deletion of glutathione S-transferase theta: correlation with induced genetic damage and potential role in endogenous mutagenesis.

    Science.gov (United States)

    Wiencke, J K; Pemble, S; Ketterer, B; Kelsey, K T

    1995-01-01

    Genetic traits that confer increased susceptibility to DNA and chromosomal damage from reactive epoxide and peroxides could be important individual risk factors in the development of human cancers. To provide an index of individual sensitivity to expoxides, we previously studied sister chromatid exchange (SCE) induction in peripheral blood lymphocytes and identified a trait involving sensitivity to chromosomal damage by monoepoxybutene and diepoxybutane (DEB), both potential carcinogenic metabolites of 1,3-butadiene. Individuals sensitive to DEB induction of SCEs also had an increased number of background or "spontaneous" SCEs. The present investigation was conducted to test whether a newly described deletion polymorphism in the glutathione S-transferase class theta (GSTT1) was significantly associated with the previously described inherited chromosomal sensitivity to DEB. The background and DEB-induced SCE frequencies in peripheral blood lymphocytes from 78 healthy volunteers were determined with the use of fluorescence plus Giemsa staining. The presence or absence of the homozygous deletion of the GSTT1 gene was determined for each participant using PCR methods. In the present study, we report a close correlation of the DEB sensitivity trait with the novel polymorphism in GSTT1. The GSTT1 polymorphism was also highly associated with the background frequencies of SCE. These studies raise the possibility that DBE is a substrate for GST-theta. Individuals who carry a homozygous deletion of the GSTT1 gene may be at increased risk for genotoxic damage from environmental or occupational 1,3-butadiene exposures. The association of the GSTT1 deletion polymorphism with increases in background SCEs indicates that substrates for this isozyme are encountered commonly in the environment or are endogenous in nature.(ABSTRACT TRUNCATED AT 250 WORDS)

  6. Heritabilities and genetic correlations of pulmonary arterial pressure and performance traits in Angus cattle at high altitude.

    Science.gov (United States)

    Crawford, N F; Thomas, M G; Holt, T N; Speidel, S E; Enns, R M

    2016-11-01

    Pulmonary arterial pressure (PAP) is an indicator trait for pulmonary hypertension and for the risk of developing high-altitude disease (HAD) in cattle. Pulmonary arterial pressures provide a tool for selection of breeding cattle for tolerance to high altitude in mountainous regions of the United States. The objective of this study was to evaluate relationships between growth performance traits and yearling PAP (42.4 ± 9.9 mmHg; = 5,776; elevation 2,150 m) using data from 1993 to 2014 in the John E. Rouse Colorado State University Beef Improvement Center (CSU-BIC) Angus herd. The breeding program used sires ( = 299) from both low- and high-elevation environments. We hypothesized that little to no genetic relationship exists between PAP and birth weight (BWT; direct and maternal), weaning weight (WW; direct and maternal), yearling weight (YW; direct and maternal), and postweaning gain (PWG). Historic selection of natural service sires from within the herd required a PAP of ≤ 42 mmHg. Outside AI sires ( = 156) used in this breeding program were not PAP tested and therefore were used with little knowledge of these sires' high-altitude adaptability. Performance traits (± SD) routinely recorded included BWT (36.2 ± 5.1 kg; = 8,695), WW (213.5 ± 31.8 kg; = 8,010), YW (345.6 ± 83.8 kg; = 5,580), and PWG (122.0 ± 63.7 kg; = 5,449), where PWG represented the total weight gained from weaning to yearling age. Four-trait analyses using REML were conducted with an animal model. The heritability estimates (± SE) for PAP (0.26 ± 0.03), BWT direct (0.42 ± 0.04) and maternal (0.14 ± 0.02), WW direct (0.29 ± 0.04) and maternal (0.19 ± 0.03), YW direct (0.45 ± 0.04) and maternal (0.23 ± 0.03), and PWG (0.14 ± 0.02) were in the range of those reported in previous literature. Estimates of genetic correlations (± SE) revealed weak relationships between PAP and direct and maternal BWT, direct and maternal WW, direct and maternal YW, and PWG of 0.15 ± 0.09, 0.14 ± 0

  7. Genetic correlations and little genetic variance for reaction norms may limit potential for adaptation to pollution by ionic and nanoparticulate silver in a whitefish (Salmonidae).

    Science.gov (United States)

    Clark, Emily S; Pompini, Manuel; Uppal, Anshu; Wedekind, Claus

    2016-05-01

    For natural populations to adapt to anthropogenic threats, heritable variation must persist in tolerance traits. Silver nanoparticles, the most widely used engineered nanoparticles, are expected to increase in concentrations in freshwaters. Little is known about how these particles affect wild populations, and whether genetic variation persists in tolerance to permit rapid evolutionary responses. We sampled wild adult whitefish and crossed them in vitro full factorially. In total, 2896 singly raised embryos of 48 families were exposed to two concentrations (0.5 μg/L; 100 μg/L) of differently sized silver nanoparticles or ions (silver nitrate). These doses were not lethal; yet higher concentrations prompted embryos to hatch earlier and at a smaller size. The induced hatching did not vary with nanoparticle size and was stronger in the silver nitrate group. Additive genetic variation for hatching time was significant across all treatments, with no apparent environmental dependencies. No genetic variation was found for hatching plasticity. We found some treatment-dependent heritable variation for larval length and yolk volume, and one instance of additive genetic variation for the reaction norm on length at hatching. Our assessment suggests that the effects of silver exposure on additive genetic variation vary according to trait and silver source. While the long-term fitness consequences of low-level silver exposure on whitefish embryos must be further investigated to determine whether it is, in fact, detrimental, our results suggest that the evolutionary potential for adaptation to these types of pollutants may be low.

  8. Genetic background specific hypoxia resistance in rat is correlated with balanced activation of a cross-chromosomal genetic network centering on physiological homeostasis

    Directory of Open Access Journals (Sweden)

    Lei eMao

    2012-10-01

    Full Text Available Genetic background of an individual can drastically influence an organism’s response upon environmental stress and pathological stimulus. Previous studies in inbred rats showed that compared to Brown Norway (BN, Dahl salt-sensitive (SS rat exerts strong hypoxia susceptibility. However, despite extensive narrow-down approaches via the chromosome substitution methodology, this genome-based physiological predisposition could not be traced back to distinct quantitative trait loci. Upon the completion and public data availability of PhysGen SS-BN consomic rat platform, I employed systems biology approach attempting to further our understanding of the molecular basis of genetic background effect in light of hypoxia response. I analyzed the physiological screening data of 22 consomic rat strains under normoxia and two-weeks of hypoxia, and cross-compared them to the parental strains. The analyses showed that SS-9BN and SS-18BN represent the most hypoxia resistant CS strains with phenotype similar to BN, whereas SS-6BN and SS-YBN segregated to the direction of SS. A meta-analysis on the transcriptomic profiles of these consomic rat strains under hypoxia treatment showed that although polymorphisms on the substituted BN chromosomes could be directly involved in hypoxia resistance, this seems to be embedded in a more complex trans-chromosomal genetic regulatory network. Via information theory based modeling approach, this hypoxia-relevant core genetic network was reverse-engineered. Network analyses showed that the protective effects of BN chromosome 9 and 18 were reflected by a balanced activation of this core network centering on physiological homeostasis. Presumably, it is the system robustness constituted on such differential network activation that acts as hypoxia response modifier. Understanding of the intrinsic link between the individual genetic background and the network robustness will set a basis in the current scientific efforts toward

  9. Genetic Background Specific Hypoxia Resistance in Rat is Correlated with Balanced Activation of a Cross-Chromosomal Genetic Network Centering on Physiological Homeostasis.

    Science.gov (United States)

    Mao, Lei

    2012-01-01

    Genetic background of an individual can drastically influence an organism's response upon environmental stress and pathological stimulus. Previous studies in inbred rats showed that compared to Brown Norway (BN), Dahl salt-sensitive (SS) rat exerts strong hypoxia susceptibility. However, despite extensive narrow-down approaches via the chromosome substitution methodology, this genome-based physiological predisposition could not be traced back to distinct quantitative trait loci. Upon the completion and public data availability of PhysGen SS-BN consomic (CS) rat platform, I employed systems biology approach attempting to further our understanding of the molecular basis of genetic background effect in light of hypoxia response. I analyzed the physiological screening data of 22 CS rat strains under normoxia and 2-weeks of hypoxia, and cross-compared them to the parental strains. The analyses showed that SS-9(BN) and SS-18(BN) represent the most hypoxia-resistant CS strains with phenotype similar to BN, whereas SS-6(BN) and SS-Y(BN) segregated to the direction of SS. A meta-analysis on the transcriptomic profiles of these CS rat strains under hypoxia treatment showed that although polymorphisms on the substituted BN chromosomes could be directly involved in hypoxia resistance, this seems to be embedded in a more complex trans-chromosomal genetic regulatory network. Via information theory based modeling approach, this hypoxia relevant core genetic network was reverse engineered. Network analyses showed that the protective effects of BN chromosome 9 and 18 were reflected by a balanced activation of this core network centering on physiological homeostasis. Presumably, it is the system robustness constituted on such differential network activation that acts as hypoxia response modifier. Understanding of the intrinsic link between the individual genetic background and the network robustness will set a basis in the current scientific efforts toward personalized medicine.

  10. Short communication: Genetic correlation and heritability of milk coagulation traits within and across lactations in Holstein cows using multiple-lactation random regression animal models.

    Science.gov (United States)

    Pretto, D; Vallas, M; Pärna, E; Tänavots, A; Kiiman, H; Kaart, T

    2014-12-01

    Genetic parameters of milk rennet coagulation time (RCT) and curd firmness (a30) among the first 3 lactations in Holstein cows were estimated. The data set included 39,960 test-day records from 5,216 Estonian Holstein cows (the progeny of 306 sires), which were recorded from April 2005 to May 2010 in 98 herds across the country. A multiple-lactation random regression animal model was used. Individual milk samples from each cow were collected during routine milk recording. These samples were analyzed for milk composition and coagulation traits with intervals of 2 to 3 mo in each lactation (7 to 305 DIM) and from first to third lactation. Mean heritabilities were 0.36, 0.32, and 0.28 for log-transformed RCT [ln(RCT)] and 0.47, 0.40, and 0.62 for a30 for parities 1, 2, and 3, respectively. Mean repeatabilities for ln(RCT) were 0.53, 0.55, and 0.56, but 0.59, 0.61, and 0.68 for a30 for parities 1, 2 and 3, respectively. Mean genetic correlations between ln(RCT) and a30 were -0.19, -0.14, and 0.02 for parities 1, 2, and 3, respectively. Mean genetic correlations were 0.91, 0.79, and 0.99 for ln(RCT), and 0.95, 0.94, and 0.94 for a30 between parities 1 and 2, 1 and 3, and 2 and 3, respectively. Due to these high genetic correlations, we concluded that for a proper genetic evaluation of milk coagulation properties it is sufficient to record RCT and a30 only in the first lactation. Copyright © 2014 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  11. Stability in and correlation between factors influencing genetic quality of seed lots in seed orchard of Pinus tabuliformis Carr. over a 12-year span.

    Science.gov (United States)

    Li, Wei; Wang, Xiaoru; Li, Yue

    2011-01-01

    Coniferous seed orchards require a long period from initial seed harvest to stable seed production. Differential reproductive success and asynchrony are among the main factors for orchard crops year-to-year variation in terms of parental gametic contribution and ultimately the genetic gain. It is fundamental in both making predictions about the genetic composition of the seed crop and decisions about orchard roguing and improved seed orchard establishment. In this paper, a primary Chinese pine seed orchard with 49 clones is investigated for stability, variation and correlation analysis of factors which influence genetic quality of the seed lots from initial seed harvest to the stable seed production over a 12 years span. Results indicated that the reproductive synchrony index of pollen shedding has shown to be higher than that of the strobili receptivity, and both can be drastically influenced by the ambient climate factors. Reproductive synchrony index of the clones has certain relative stability and it could be used as an indication of the seed orchard status during maturity stage; clones in the studied orchard have shown extreme differences in terms of the gametic and genetic contribution to the seed crop at the orchard's early production phase specifically when they severe as either female or male parents. Those differences are closely related to clonal sex tendency at the time of orchard's initial reproduction. Clonal gamete contribution as male and female parent often has a negative correlation. Clone utilization as pollen, seed or both pollen and seed donors should consider the role it would play in the seed crop; due to numerous factors influencing on the mating system in seed orchards, clonal genetic contribution as male parent is uncertain, and it has major influence on the genetic composition in the seed orchard during the initial reproductive and seed production phase.

  12. Stability in and correlation between factors influencing genetic quality of seed lots in seed orchard of Pinus tabuliformis Carr. over a 12-year span.

    Directory of Open Access Journals (Sweden)

    Wei Li

    Full Text Available Coniferous seed orchards require a long period from initial seed harvest to stable seed production. Differential reproductive success and asynchrony are among the main factors for orchard crops year-to-year variation in terms of parental gametic contribution and ultimately the genetic gain. It is fundamental in both making predictions about the genetic composition of the seed crop and decisions about orchard roguing and improved seed orchard establishment. In this paper, a primary Chinese pine seed orchard with 49 clones is investigated for stability, variation and correlation analysis of factors which influence genetic quality of the seed lots from initial seed harvest to the stable seed production over a 12 years span. Results indicated that the reproductive synchrony index of pollen shedding has shown to be higher than that of the strobili receptivity, and both can be drastically influenced by the ambient climate factors. Reproductive synchrony index of the clones has certain relative stability and it could be used as an indication of the seed orchard status during maturity stage; clones in the studied orchard have shown extreme differences in terms of the gametic and genetic contribution to the seed crop at the orchard's early production phase specifically when they severe as either female or male parents. Those differences are closely related to clonal sex tendency at the time of orchard's initial reproduction. Clonal gamete contribution as male and female parent often has a negative correlation. Clone utilization as pollen, seed or both pollen and seed donors should consider the role it would play in the seed crop; due to numerous factors influencing on the mating system in seed orchards, clonal genetic contribution as male parent is uncertain, and it has major influence on the genetic composition in the seed orchard during the initial reproductive and seed production phase.

  13. Heritability estimate and genetic correlations of reproductive features in Nellore bulls, offspring of super precocious, precocious and normal cows under extensive farming conditions.

    Science.gov (United States)

    Siqueira, J B; Oba, E; Pinho, R O; Quintino, H P; Eler, J P; Miranda Neto, T; Guimarães, S E F; Guimarães, J D

    2012-04-01

    The present work aimed to estimate heritability and genetic correlations of reproductive features of Nellore bulls, offspring of mothers classified as superprecocious (M1), precocious (M2) and normal (M3). Twenty one thousand hundred and eighty-six animals with average age of 21.29 months were used, evaluated through the breeding soundness evaluation from 1999 to 2008. The breeding soundness features included physical semen evaluation (progressive sperm motility and sperm vigour), semen morphology (major, minor and total sperm defects), scrotal circumference (SC), testicular volume (TV) and SC at 18 months of age (SC18). The components of variance, heritability and genetic correlations for and between the features were estimated simultaneously by restricted maximum likelihood, with the use of the vce software system vs 6. The heritability estimates were high for SC18, SC and TV (0.43, 0.63 and 0.54; 0.45, 0.45 and 0.44; 0.42, 0.45 and 0.41, respectively for the categories of mothers M1, M2 and M3) and low for physical and morphological semen aspects. The genetic correlations between SC18 and SC were high, as well as between these variables with TV. High and positive genetic correlations were recorded among SC18, SC and TV with the physical aspects of the semen, although no favourable association was verified with the morphological aspects, for the three categories of mothers. It can be concluded that the mother's sexual precocity did not affect the heritability of their offspring reproduction features.

  14. Applicability of genetic polymorphism analysis for the diagnosis of Angelman syndrome and the correlation between language difficulties and disease phenotype

    National Research Council Canada - National Science Library

    Wang, K; Li, Y T; Hou, M

    2016-01-01

    ...% of patients with AS. The aim of this study was to validate the clinical features and genetic polymorphisms of AS, and to discuss the relationship between functional language lateralization and the arcuate fasciculus...

  15. Induced genetic variability and correlation studies for yield and its component traits in Groundnut (Arachis hypogaea L.

    Directory of Open Access Journals (Sweden)

    Channayya P. Hiremath , H. L. Nadaf and Keerthi,C.M

    2011-03-01

    Full Text Available Groundnut is one of the principal economic oilseed crops of the world, which has been exposed extensively to mutagenictreatments for induction of genetic variability. In the present experiment, estimates of genetic variability, heritability and geneticadvance were assessed for 12 different quantitative traits in the mutants derived from two Spanish Bunch groundnut cultivars, viz.TPG-41 and GPBD-4 with chemical and physical mutagenic agents. Wide genetic variations were observed for most of thequantitative traits studied as evidenced by higher mean, range, PCV and GCV values. Further genetic improvement throughselection for yield improvement should rely on number of primary branches per plant, 100-kernel weight, SMK% and shellingper cent as these mutants recorded higher genetic variability, heritability and genetic advance for these quantitative traits. Podyield was positively and significantly associated with number of primary branches, pod weight per plant, 100-kernel weight,sound matured per cent kernel and oil yield. These results clearly indicate that idirect selection for yield in groundnut is possiblethrough simultaneous improvement of these yield components

  16. Demographic History and Reproductive Output Correlates with Intraspecific Genetic Variation in Seven Species of Indo-Pacific Mangrove Crabs.

    Directory of Open Access Journals (Sweden)

    Sara Fratini

    Full Text Available The spatial distribution and the amount of intraspecific genetic variation of marine organisms are strongly influenced by many biotic and abiotic factors. Comparing biological and genetic data characterizing species living in the same habitat can help to elucidate the processes driving these variation patterns. Here, we present a comparative multispecies population genetic study on seven mangrove crabs co-occurring in the West Indian Ocean characterized by planktotrophic larvae with similar pelagic larval duration. Our main aim was to investigate whether a suite of biological, behavioural and ecological traits could affect genetic diversities of the study species in combination with historical demographic parameters. As possible current explanatory factors, we used the intertidal micro-habitat colonised by adult populations, various parameters of individual and population fecundity, and the timing of larval release. As the genetic marker, we used partial sequences of cytochrome oxidase subunit I gene. Genetic and ecological data were collected by the authors and/or gathered from primary literature. Permutational multiple regression models and ANOVA tests showed that species density and their reproductive output in combination with historical demographic parameters could explain the intraspecific genetic variation indexes across the seven species. In particular, species producing consistently less eggs per spawning event showed higher values of haplotype diversity. Moreover, Tajima's D parameters well explained the recorded values for haplotype diversity and average γst. We concluded that current intraspecific gene diversities in crabs inhabiting mangrove forests were affected by population fecundity as well as past demographic history. The results were also discussed in terms of management and conservation of fauna in the Western Indian Ocean mangroves.

  17. Demographic History and Reproductive Output Correlates with Intraspecific Genetic Variation in Seven Species of Indo-Pacific Mangrove Crabs

    Science.gov (United States)

    Fratini, Sara; Ragionieri, Lapo; Cannicci, Stefano

    2016-01-01

    The spatial distribution and the amount of intraspecific genetic variation of marine organisms are strongly influenced by many biotic and abiotic factors. Comparing biological and genetic data characterizing species living in the same habitat can help to elucidate the processes driving these variation patterns. Here, we present a comparative multispecies population genetic study on seven mangrove crabs co-occurring in the West Indian Ocean characterized by planktotrophic larvae with similar pelagic larval duration. Our main aim was to investigate whether a suite of biological, behavioural and ecological traits could affect genetic diversities of the study species in combination with historical demographic parameters. As possible current explanatory factors, we used the intertidal micro-habitat colonised by adult populations, various parameters of individual and population fecundity, and the timing of larval release. As the genetic marker, we used partial sequences of cytochrome oxidase subunit I gene. Genetic and ecological data were collected by the authors and/or gathered from primary literature. Permutational multiple regression models and ANOVA tests showed that species density and their reproductive output in combination with historical demographic parameters could explain the intraspecific genetic variation indexes across the seven species. In particular, species producing consistently less eggs per spawning event showed higher values of haplotype diversity. Moreover, Tajima’s D parameters well explained the recorded values for haplotype diversity and average γst. We concluded that current intraspecific gene diversities in crabs inhabiting mangrove forests were affected by population fecundity as well as past demographic history. The results were also discussed in terms of management and conservation of fauna in the Western Indian Ocean mangroves. PMID:27379532

  18. Genetic and environmental factors affecting growth of Nile tilapia (Oreochromis niloticus) juveniles: modelling spatial correlations between hapas

    NARCIS (Netherlands)

    Charo-Karisa, H.; Komen, J.; Rezk, M.A.; Reynolds, S.; Ponzoni, R.W.; Bovenhuis, H.

    2006-01-01

    The aim of this study was to quantify the environmental and genetic effects on early growth of Nile tilapia, Oreochromis niloticus, in hapa-in-earthen pond systems. In a pilot study, we grew swim-up fry with or without supplementary feed in hapas suspended in fertilized ponds at 5, 10, 15, and 20 fr

  19. The interferon gamma gene in celiac disease: augmented expression correlates with tissue damage but no evidence for genetic susceptibility.

    NARCIS (Netherlands)

    Wapenaar, M.C.; Belzen, M.J van; Fransen, J.H.; Sarasqueta, A.F.; Houwen, R.H.J.; Meijer, J.W.; Mulder, C.J.J.; Wijmenga, C.

    2004-01-01

    Celiac disease (CD) is a complex genetic disorder characterized by gluten intolerance. The Th1 immune response, with a key position for interferon gamma (IFN-gamma), is an important determinant of intestinal remodeling in CD. We aimed at further ascertaining the role of IFN-gamma, either as a

  20. Can a genetic correlation with seed mass constrain adaptive evolution of seedling desiccation tolerance in wild barley?

    NARCIS (Netherlands)

    Verhoeven, K.J.F.; Biere, A.; Nevo, E.; Van Damme, J.M.M.

    2004-01-01

    Very young seedlings of wild barley Hordeum spontaneum have the ability to survive extended periods of severe drought. This desiccation tolerance is considered an adaptation to the rain-limited and unpredictable habitats that the species occupies. Genetic variation has been observed for this trait,

  1. Can a genetic correlation with seed mass constrain adaptive evolution of seedling desiccation tolerance in wild barley?

    NARCIS (Netherlands)

    Verhoeven, K.J.F.; Biere, A.; Nevo, E.; Van Damme, J.M.M.

    2004-01-01

    Very young seedlings of wild barley Hordeum spontaneum have the ability to survive extended periods of severe drought. This desiccation tolerance is considered an adaptation to the rain-limited and unpredictable habitats that the species occupies. Genetic variation has been observed for this trait,

  2. Assessment of genetic correlation between bacterial cold water disease resistance and spleen index in a domesticated population of rainbow trout: identification of QTL on chromosome Omy19.

    Directory of Open Access Journals (Sweden)

    Gregory D Wiens

    Full Text Available Selective breeding of animals for increased disease resistance is an effective strategy to reduce mortality in aquaculture. However, implementation of selective breeding programs is limited by an incomplete understanding of host resistance traits. We previously reported results of a rainbow trout selection program that demonstrated increased survival following challenge with Flavobacterium psychrophilum, the causative agent of bacterial cold water disease (BCWD. Mechanistic study of disease resistance identified a positive phenotypic correlation between post-challenge survival and spleen somatic-index (SI. Herein, we investigated the hypothesis of a genetic correlation between the two traits influenced by colocalizing QTL. We evaluated the inheritance and calculated the genetic correlation in five year-classes of odd- and even-year breeding lines. A total of 322 pedigreed families (n = 25,369 fish were measured for disease resistance, and 251 families (n = 5,645 fish were evaluated for SI. Spleen index was moderately heritable in both even-year (h(2  = 0.56±0.18 and odd-year (h(2  = 0.60±0.15 lines. A significant genetic correlation between SI and BCWD resistance was observed in the even-year line (rg  = 0.45±0.20, P = 0.03 but not in the odd-year line (rg  = 0.16±0.12, P = 0.19. Complex segregation analyses of the even-year line provided evidence of genes with major effect on SI, and a genome scan of a single family, 2008132, detected three significant QTL on chromosomes Omy19, 16 and 5, in addition to ten suggestive QTL. A separate chromosome scan for disease resistance in family 2008132 identified a significant BCWD QTL on Omy19 that was associated with time to death and percent survival. In family 2008132, Omy19 microsatellite alleles that associated with higher disease resistance also associated with increased spleen size raising the hypothesis that closely linked QTL contribute to the correlation between

  3. Genetic correlations between first parity and accumulated second to last parity reproduction traits as selection aids to improve sow lifetime productivity

    Directory of Open Access Journals (Sweden)

    Udomsak Noppibool

    2017-03-01

    Full Text Available Objective The objective of this research was to estimate genetic correlations between number of piglets born alive in the first parity (NBA1, litter birth weight in the first parity (LTBW1, number of piglets weaned in the first parity (NPW1, litter weaning weight in the first parity (LTWW1, number of piglets born alive from second to last parity (NBA2+, litter birth weight from second to last parity (LTBW2+, number of piglets weaned from second to last parity (NPW2+ and litter weaning weight from second to last parity (LTWW2+, and to identify the percentages of animals (the top 10%, 25%, and 50% for first parity and sums of second and later parity traits. Methods The 9,830 records consisted of 2,124 Landrace (L, 724 Yorkshire (Y, 2,650 LY, and 4,332 YL that had their first farrowing between July 1989 and December 2013. The 8-trait animal model included the fixed effects of first farrowing year-season, additive genetic group, heterosis of the sow and the litter, age at first farrowing, and days to weaning (NPW1, LTWW1, NPW2+, and LTWW2+. Random effects were animal and residual. Results Heritability estimates ranged from 0.08±0.02 (NBA1 and NPW1 to 0.29±0.02 (NPW2+. Genetic correlations between reproduction traits in the first parity and from second to last parity ranged from 0.17±0.08 (LTBW1 and LTBW2+ to 0.67±0.06 (LTWW1 and LTWW2+. Phenotypic correlations between reproduction traits in the first parity and from second to last parity were close to zero. Rank correlations between LTWW1 and LTWW2+ estimated breeding value tended to be higher than for other pairs of traits across all replacement percentages. Conclusion These rank correlations indicated that selecting boars and sows using genetic predictions for first parity reproduction traits would help improve reproduction traits in the second and later parities as well as lifetime productivity in this swine population.

  4. Clinical correlates and genetic linkage of social and communication difficulties in families with obsessive-compulsive disorder: Results from the OCD Collaborative Genetics Study.

    Science.gov (United States)

    Samuels, Jack; Shugart, Yin Yao; Wang, Ying; Grados, Marco A; Bienvenu, O Joseph; Pinto, Anthony; Rauch, Scott L; Greenberg, Benjamin D; Knowles, James A; Fyer, Abby J; Piacentini, John; Pauls, David L; Cullen, Bernadette; Rasmussen, Steven A; Stewart, S Evelyn; Geller, Dan A; Maher, Brion S; Goes, Fernando S; Murphy, Dennis L; McCracken, James T; Riddle, Mark A; Nestadt, Gerald

    2014-06-01

    Some individuals with obsessive-compulsive disorder (OCD) have autistic-like traits, including deficits in social and communication behaviors (pragmatics). The objective of this study was to determine if pragmatic impairment aggregates in OCD families and discriminates a clinically and genetically distinct subtype of OCD. We conducted clinical examinations on, and collected DNA samples from, 706 individuals with OCD in 221 multiply affected OCD families. Using the Pragmatic Rating Scale (PRS), we compared the prevalence of pragmatic impairment in OCD-affected relatives of probands with and without pragmatic impairment. We also compared clinical features of OCD-affected individuals in families having at least one, versus no, individual with pragmatic impairment, and assessed for linkage to OCD in the two groups of families. The odds of pragmatic impairment were substantially greater in OCD-affected relatives of probands with pragmatic impairment. Individuals in high-PRS families had greater odds of separation anxiety disorder and social phobia, and a greater number of schizotypal personality traits. In high-PRS families, there was suggestive linkage to OCD on chromosome 12 at marker D12S1064 and on chromosome X at marker DXS7132 whereas, in low-PRS families, there was suggestive linkage to chromosome 3 at marker D3S2398. Pragmatic impairment aggregates in OCD families. Separation anxiety disorder, social phobia, and schizotypal personality traits are part of a clinical spectrum associated with pragmatic impairment in these families. Specific regions of chromosomes 12 and X are linked to OCD in high-PRS families. Thus, pragmatic impairment may distinguish a clinically and genetically homogeneous subtype of OCD. © 2014 Wiley Periodicals, Inc.

  5. Genetic divergence correlates with morphological and ecological subdivision in the deep-water elk kelp, Pelagophycus porra (phaeophyceae)

    NARCIS (Netherlands)

    Miller, KA; Olsen, JL; Stam, WT

    2000-01-01

    Pelagophycus porra (Leman) Setchell has a narrow distribution confined to deep water from the Channel Islands off the southern California coast to central Baja California, Mexico. Distinct morphotypes are consistently correlated with distinctive habitats, that is, windward exposures characterized by

  6. Genetic, familial and environmental correlates of asthma among early adolescents in Sri Lanka: a case control study

    OpenAIRE

    2015-01-01

    Background Despite advances in management, the mortality and morbidity due to asthma are increasing globally. Identification of specific correlates in the local context is useful in disease management. The objective of this study was to estimate the prevalence and to describe selected correlates of asthma among12-14 year old school children in a district in Sri Lanka. Method A school based cross-sectional study was conducted using a self administered questionnaire. Multi-staged stratified clu...

  7. Genetic variation and correlations of life-history traits in gypsy moths (Lymantria dispar L. from two populations in Serbia

    Directory of Open Access Journals (Sweden)

    Lazarević Jelica

    2008-01-01

    Full Text Available Periodic fluctuations in density impose different selection pressures on populations of outbreaking Lepidoptera due to changes in their nutritional environment. The maternal effects hypothesis of insect outbreak predicts the transmission of this nutritional "information" to subsequent generations and alterations in offspring life-history traits. To test for these time-delayed effects of the parental generation, we compared life-history traits and their variation and covariation among laboratory-reared gypsy moths hatched from egg masses collected from low- and medium-density populations. Decreased individual performance was recorded in offspring from the medium-density population, indicating reduced egg provisioning under crowding conditions. Genetic variance and covariance were also shown to be sensitive to density of the parental generation. In gypsy moths from the medium-density population, quantitative genetic analysis revealed significantly higher broad-sense heritabilities for development duration traits and demonstrated a trade-off between development duration and body size.

  8. Correlation between genetic HLA class I and II polymorphisms and anthropological aspects in the Chaouya population from Morocco (Arabic speaking).

    Science.gov (United States)

    Canossi, A; Piancatelli, D; Aureli, A; Oumhani, K; Ozzella, G; Del Beato, T; Liberatore, G; El Aouad, R; Adorno, D

    2010-09-01

    The aim of this study was to provide genetic and anthropological information on the Chaouya (CH), an Arabic-speaking population living in West Morocco, Atlantic coast (Settat). In 98 unrelated healthy CH volunteers, we first investigated the human leukocyte antigen (HLA) class I and II allele polymorphisms using a sequence-based typing method and examined haplotypes and relatedness of this group to other African and Mediterranean populations. The study showed the close relatedness with Tunisian population and other North Africans, together with a strong influence of various immigrations, mainly Spaniards, French, and Portuguese, as expected. Nevertheless, analysis of class II allele frequencies (afs) showed that Oromo and Amhara Ethiopian groups cluster together with the Berbers and other North Africans, confirming the relationship between these populations (Afro-Asiatic linguistic group, Hamites). South and sub-Saharan Africans cluster separately at a great distance from CH, except the sub-Saharan Bantu population from Congo Kinshasa, which shows a relatively close genetic relationship ascribable to the effect of a diversifying selection. On the other hand, considering HLA class I afs analyses, it was noteworthy that CH grouped together with sub-Saharans, showing a close genetic distance mainly with Ugandas and Kenians Luo.

  9. Correlations between the ages of Alnus host species and the genetic diversity of associated endosymbiotic Frankia strains from nodules

    Institute of Scientific and Technical Information of China (English)

    DAI Yumei; ZHANG Chenggang; XIONG Zhi; ZHANG Zhongze

    2005-01-01

    Nodule samples were collected from four alder species: Alnus nepalensis, A. sibirica, A. tinctoria and A. mandshurica growing in different environments on Gaoligong Mountains,Yunnan Province of Southwest China and on Changbai Mountains, Jilin Province of Northeast China. PCR-RFLP analysis of the IGS between nifD and nifK genes was directly applied to uncultured Frankia strains in the nodules. A total of 21 restriction patterns were obtained. The Frankia population in the nodules of A. nepalensis had the highest genetic diversity among all four Frankia populations; by contrast, the population in the nodules of A. mandshurica had the lowest degree of divergence; the ones in the nodules of A. sibirica and A. tinctoria were intermediate. A dendrogram, which was constructed based on the genetic distance between the restriction patterns, indicated that Frankia strains from A. sibirica and A. tinctoria had a close genetic relationship. Frankia strains from A. nepalensis might be the ancestor of Frankia strains infecting other Alnus species. From these results and the inference of the ages of Alnus host species, it is deduced that there was a co-evolution between Alnus and its microsymbiont Frankia in China.

  10. Recent breeding history of dog breeds in Sweden: modest rates of inbreeding, extensive loss of genetic diversity and lack of correlation between inbreeding and health.

    Science.gov (United States)

    Jansson, M; Laikre, L

    2014-04-01

    One problem in modern dogs is a high occurrence of physical diseases, defects and disorders. Many breeds exhibit physical problems that affect individual dogs throughout life. A potential cause of these problems is inbreeding that is known to reduce the viability of individuals. We investigated the possible correlation between recent inbreeding and health problems in dogs and used studbook data from 26 breeds provided by the Swedish Kennel Club for this purpose. The pedigrees date back to the mid-20th century and comprise 5-10 generations and 1 000-50 000 individuals per pedigree over our study period of 1980-2010. We compared levels of inbreeding and loss of genetic variation measured in relation to the number of founding animals during this period in the investigated dog breeds that we classified as 'healthy' (11 breeds) or 'unhealthy' (15) based on statistics on the extent of veterinary care obtained from Sweden's four largest insurance companies for pets. We found extensive loss of genetic variation and moderate levels of recent inbreeding in all breeds examined, but no strong indication of a difference in these parameters between healthy versus unhealthy breeds over this period. Thus, recent breeding history with respect to rate of inbreeding does not appear to be a main cause of poor health in the investigated dog breeds in Sweden. We identified both strengths and weaknesses of the dog pedigree data important to consider in future work of monitoring and conserving genetic diversity of dog breeds.

  11. A possible correlation between the host genetic background in the epidemiology of Hepatitis B virus in the Amazon region of Brazil

    Directory of Open Access Journals (Sweden)

    A. K. C. R. Santos

    1995-08-01

    Full Text Available The Amazon region of Brazil is an area of great interest because of the large distribution of hepatitis B virus in specific Western areas. Seven urban communities and 24 Indian groups were visited in a total of 4,244 persons. Each individual was interviewed in order to obtain demographic and familial information. Whole blood was collected for serology and genetic determinations. Eleven genetic markers and three HBV markers were tested. Among the most relevant results it was possible to show that (i there was a large variation of previous exposure to HBV in both urban and non-urban groups ranging from 0 to 59.2%; (ii there was a different pattern of epidemiological distribution of HBV that was present even among a same linguistic Indian group, with mixed patterns of correlation between HBsAg and anti-HBs and (iii the prevalence of HBV markers (HBsAg and anti-HBs were significantly higher (P=0.0001 among the Indian population (18.8% than the urban groups (12.5%. Its possible that the host genetic background could influence and modulate the replication of the virus in order to generate HB carrier state.

  12. Negative phenotypic and genetic correlation between natal dispersal propensity and nest-defence behaviour in a wild bird.

    Science.gov (United States)

    Bize, Pierre; Daniel, Grégory; Viblanc, Vincent A; Martin, Julien G A; Doligez, Blandine

    2017-07-01

    Natural selection is expected to favour the integration of dispersal and phenotypic traits allowing individuals to reduce dispersal costs. Accordingly, associations have been found between dispersal and personality traits such as aggressiveness and exploration, which may facilitate settlement in a novel environment. However, the determinism of these associations has only rarely been explored. Here, we highlight the functional integration of individual personality in nest-defence behaviour and natal dispersal propensity in a long-lived colonial bird, the Alpine swift (Apus melba), providing insights into genetic constraints shaping the coevolution of these two traits. We report a negative association between natal dispersal and nest-defence (i.e. risk taking) behaviour at both the phenotypic and genetic level. This negative association may result from direct selection if risk-averseness benefits natal dispersers by reducing the costs of settlement in an unfamiliar environment, or from indirect selection if individuals with lower levels of nest defence also show lower levels of aggressiveness, reducing costs of settlement among unfamiliar neighbours in a colony. In both cases, these results highlight that risk taking is an important behavioural trait to consider in the study of dispersal evolution. © 2017 The Author(s).

  13. Genetic diversity and correlation with feline infectious peritonitis of feline coronavirus type I and II: a 5-year study in Taiwan.

    Science.gov (United States)

    Lin, Chao-Nan; Su, Bi-Ling; Wang, Ching-Ho; Hsieh, Ming-Wei; Chueh, Ti-Jen; Chueh, Ling-Ling

    2009-05-12

    The outcomes of feline coronavirus (FCoV) infection vary greatly from asymptomatic or mild enteric infection to fatal feline infectious peritonitis (FIP). On the basis of in vitro neutralization tests, FCoVs can be divided into two serotypes. To explore the correlation between different types of FCoV and FIP, clinical specimens collected from 363 naturally infected cats during 2003-2007 were analyzed. Amplification of a portion of the S gene from the FCoV was performed and a total of 222 cases were differentiated. Among them, 197 (88.7%) cats were type I-positive, 13 (5.9%) were type II-positive, and 12 (5.4%) were positive for both types. Irrespective of the predominance of type I FCoV infection in Taiwan, type II FCoV demonstrated a significantly higher correlation with FIP (p<0.01). Analysis of partial S gene sequences of the local type I and II FCoVs strains revealed that type I viruses were more genetically divergent (6.2-11.7%) than type II viruses (0.6-3.2%) within the 5-year study period. The higher genetic diversity of type I FCoVs might be due to the larger infected cat population and to the long period of viral persistence in asymptomatic cats in comparison to type II viruses.

  14. Multivariate imaging-genetics study of MRI gray matter volume and SNPs reveals biological pathways correlated with brain structural differences in Attention Deficit Hyperactivity Disorder

    Directory of Open Access Journals (Sweden)

    Sabin Khadka

    2016-07-01

    Full Text Available Background: Attention Deficit Hyperactivity Disorder (ADHD is a prevalent neurodevelopmental disorder affecting children, adolescents, and adults. Its etiology is not well-understood, but it is increasingly believed to result from diverse pathophysiologies that affect the structure and function of specific brain circuits. Although one of the best-studied neurobiological abnormalities in ADHD is reduced fronto-striatal-cerebellar gray matter volume, its specific genetic correlates are largely unknown. Methods: In this study, T1-weighted MR images of brain structure were collected from 198 adolescents (63 ADHD-diagnosed. A multivariate parallel independent component analysis technique (Para-ICA identified imaging-genetic relationships between regional gray matter volume and single nucleotide polymorphism data. Results: Para-ICA analyses extracted 14 components from genetic data and 9 from MR data. An iterative cross-validation using randomly-chosen sub-samples indicated acceptable stability of these ICA solutions. A series of partial correlation analyses controlling for age, sex, and ethnicity revealed two genotype-phenotype component pairs significantly differed between ADHD and non-ADHD groups, after a Bonferroni correction for multiple comparisons. The brain phenotype component not only included structures frequently found to have abnormally low volume in previous ADHD studies, but was also significantly associated with ADHD differences in symptom severity and performance on cognitive tests frequently found to be impaired in patients diagnosed with the disorder. Pathway analysis of the genotype component identified several different biological pathways linked to these structural abnormalities in ADHD. Conclusions: Some of these pathways implicate well-known dopaminergic neurotransmission and neurodevelopment hypothesized to be abnormal in ADHD. Other more recently implicated pathways included glutamatergic and GABA-eric physiological systems

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

    Science.gov (United States)

    Rietveld, Cornelius A.; Johannesson, Magnus; Magnusson, Patrik K. E.; Uitterlinden, André G.; van Rooij, Frank J. A.; Hofman, Albert

    2017-01-01

    Large-scale genome-wide association results are typically obtained from a fixed-effects meta-analysis of GWAS summary statistics from multiple studies spanning different regions and/or time periods. This approach averages the estimated effects of genetic variants across studies. In case genetic effects are heterogeneous across studies, the statistical power of a GWAS and the predictive accuracy of polygenic scores are attenuated, contributing to the so-called ‘missing heritability’. Here, we describe the online Meta-GWAS Accuracy and Power (MetaGAP) calculator (available at www.devlaming.eu) which quantifies this attenuation based on a novel multi-study framework. By means of simulation studies, we show that under a wide range of genetic architectures, the statistical power and predictive accuracy provided by this calculator are accurate. We compare the predictions from the MetaGAP calculator with actual results obtained in the GWAS literature. Specifically, we use genomic-relatedness-matrix restricted maximum likelihood to estimate the SNP heritability and cross-study genetic correlation of height, BMI, years of education, and self-rated health in three large samples. These estimates are used as input parameters for the MetaGAP calculator. Results from the calculator suggest that cross-study heterogeneity has led to attenuation of statistical power and predictive accuracy in recent large-scale GWAS efforts on these traits (e.g., for years of education, we estimate a relative loss of 51–62% in the number of genome-wide significant loci and a relative loss in polygenic score R2 of 36–38%). Hence, cross-study heterogeneity contributes to the missing heritability. PMID:28095416

  16. Identifying QTL and genetic correlations between fur quality traits in mink (Neovison vison)

    DEFF Research Database (Denmark)

    Thirstrup, Janne Pia; Anistoroaei, Razvan Marian; Guldbrandtsen, Bernt

    2014-01-01

    Mapping of QTL affecting fur quality traits (guard hair length, guard hair thickness, density of wool, surface of the fur and quality) and skin length was performed in a three-generation mink population (F2 design). In the parental generation, Nordic Brown mink were crossed reciprocally with Amer......Mapping of QTL affecting fur quality traits (guard hair length, guard hair thickness, density of wool, surface of the fur and quality) and skin length was performed in a three-generation mink population (F2 design). In the parental generation, Nordic Brown mink were crossed reciprocally...... of the traits are in part under the influence of the same genes. Traits under the influence of QTL at close or identical positions also were traits that were strongly genotypically correlated. Based on the results of correlation analyses, the most important single traits influencing the quality were found...

  17. Genetic and neurophysiological correlates of the age of onset of alcohol use disorders in adolescents and young adults.

    Science.gov (United States)

    Chorlian, David B; Rangaswamy, Madhavi; Manz, Niklas; Wang, Jen-Chyong; Dick, Danielle; Almasy, Laura; Bauer, Lance; Bucholz, Kathleen; Foroud, Tatiana; Hesselbrock, Victor; Kang, Sun J; Kramer, John; Kuperman, Sam; Nurnberger, John; Rice, John; Schuckit, Marc; Tischfield, Jay; Edenberg, Howard J; Goate, Alison; Bierut, Laura; Porjesz, Bernice

    2013-09-01

    Discrete time survival analysis was used to assess the age-specific association of event-related oscillations (EROs) and CHRM2 gene variants on the onset of regular alcohol use and alcohol dependence. The subjects were 2,938 adolescents and young adults ages 12-25. Results showed that the CHRM2 gene variants and ERO risk factors had hazards which varied considerably with age. The bulk of the significant age-specific associations occurred in those whose age of onset was under 16. These associations were concentrated in those subjects who at some time took an illicit drug. These results are consistent with studies which associate greater rates of alcohol dependence among those who begin drinking at an early age. The age specificity of the genetic and neurophysiological factors is consistent with recent studies of adolescent brain development, which locate an interval of heightened vulnerability to substance use disorders in the early to mid teens.

  18. Silent genetic alterations identified by targeted next-generation sequencing in pheochromocytoma/paraganglioma: A clinicopathological correlations.

    Science.gov (United States)

    Pillai, Suja; Gopalan, Vinod; Lo, Chung Y; Liew, Victor; Smith, Robert A; Lam, Alfred King Y

    2017-02-01

    The goal of this pilot study was to develop a customized, cost-effective amplicon panel (Ampliseq) for target sequencing in a cohort of patients with sporadic phaeochromocytoma/paraganglioma. Phaeochromocytoma/paragangliomas from 25 patients were analysed by targeted next-generation sequencing approach using an Ion Torrent PGM instrument. Primers for 15 target genes (NF1, RET, VHL, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX, MEN1, KIF1Bβ, EPAS1, CDKN2 & PHD2) were designed using ion ampliseq designer. Ion Reporter software and Ingenuity® Variant Analysis™ software (www.ingenuity.com/variants) from Ingenuity Systems were used to analysis these results. Overall, 713 variants were identified. The variants identified from the Ion Reporter ranged from 64 to 161 per patient. Single nucleotide variants (SNV) were the most common. Further annotation with the help of Ingenuity variant analysis revealed 29 of these 713variants were deletions. Of these, six variants were non-pathogenic and four were likely to be pathogenic. The remaining 19 variants were of uncertain significance. The most frequently altered gene in the cohort was KIF1B followed by NF1. Novel KIF1B pathogenic variant c.3375+1G>A was identified. The mutation was noted in a patient with clinically confirmed neurofibromatosis. Chromosome 1 showed the presence of maximum number of variants. Use of targeted next-generation sequencing is a sensitive method for the detecting genetic changes in patients with phaeochromocytoma/paraganglioma. The precise detection of these genetic changes helps in understanding the pathogenesis of these tumours. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. Genetic Correlations and Path Analysis in Butternut Squash Cucurbita moschata Duch / Correlaciones Genéticas y Análisis de Sendero en Zapallo Cucurbita moschata Duch

    Directory of Open Access Journals (Sweden)

    Sanín Ortiz Grisales

    2014-12-01

    Full Text Available Abstract. A genetic correlation and path analysis was carried out for yield and fruit quality components of diallel crosses of butternut squash Cucurbita moschata Duch, using openpollinated introductions, S0 and inbred lines S1 and S2 at two sites: Candelaria and Buga, located in the Department of Valle delCauca, Colombia. A split-plot experimental design with arranged, random blocks and four replicates was used. The average fruit weight presented positive genetic correlations with the total production per plant in all three generations and at both test sites. The total plant dry matter and total production per plant presented a high genetic correlation, and the fruit dry matter was inversely correlated with the total carotene. The total carotene and fruit color were independent. The path analysis confirmed high genetic correlations between the number of fruits per plant, average fruitweight, and total plant dry matter, with direct, positive effects, that were significantly greater than zero for the variables of number of fruits per plant and average fruit weight in regards to the total plant dry matter. The total production per plant expressed a direct, negative effect on the total plant dry matter. The fruit dry matter presented an indirect, negative effect on the total plant dry matter through the average fruit weight and an indirect, positive effect through the total production per plant. / Resumen. Se estudiaron las correlaciones genéticas y el análisis de sendero para los componentes del rendimiento y calidad del fruto de zapallo Cucurbita moschata Duch, en cruzamientos dialélicos entre introducciones de libre polinización S0 y sus líneas S1 y S2 en dos localidades, Candelaria y Buga, ubicadas en el Departamento del Valle del Cauca, Colombia. Se usó un diseño experimental en parcelas divididas, arregladas en bloques al azar con cuatro repeticiones. El peso promedio del fruto presentó correlación gen

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

    DEFF Research Database (Denmark)

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

    2014-01-01

    ∈±∈SE: 0.49∈±∈0.14) and beta cell responsiveness to glucose (h 2∈±∈SE: 0.66∈±∈0.12). Additionally, strong genetic correlations were found between measures of beta cell response after glucose and tolbutamide stimulation, with correlation coefficients ranging from 0.77 to 0.88. Furthermore, we identified......Aims/hypothesis: The aim of this study was to estimate the heritability of quantitative measures of glucose regulation obtained from a tolbutamide-modified frequently sampled IVGTT (t-FSIGT) and to correlate the heritability of the glucose-stimulated beta cell response to the tolbutamide......-induced beta cell response. In addition, single nucleotide polymorphisms (SNPs) having an exclusive effect on either glucose- or tolbutamide-stimulated insulin release were identified. Methods: Two hundred and eighty-four non-diabetic family members of patients with type 2 diabetes underwent a t...

  1. Effect of environmental and genetic factors on the correlation and stability of grain yield components in wheat

    Directory of Open Access Journals (Sweden)

    Hristov Nikola

    2011-01-01

    Full Text Available More effective breeding and development of new wheat genotypes depend on an intricate analysis of the complex relationships among many different traits. The objective of this paper was to determine the interrelationship, direct and indirect effects, and stability of different yield components in wheat. Forty divergent genotypes were analyzed in a three- year study (2005-2007. Highly significant correlations were found between grain yield per plant and all the other traits analyzed except spike length, with the only negative correlation being that with plant height. Path analysis revealed highly significant direct effects of grain number per spike, grain mass per spike and 1000 grain weight on grain yield per plant. Analysis of stability parameters showed that the stability of grain yield per plant depended for the most part on the stability of grain number per spike, grain mass per spike and harvest index. Cluster analysis identified genotypes with a high performance for grain yield per plant and good stability parameters, indicating the possibility of developing wheat varieties with a high potential and high stability for a particular trait.

  2. [Proliferative activity parameters and their correlation with genetic damage of blood lymphocytes during cultivation under the conditions of cytokinetic block].

    Science.gov (United States)

    Ingel', F I; Iurchenko, V V; Gus'kov, A S; Krivtsova, E K; Iurtseva, N A

    2006-01-01

    The subjects of the study were 15 volunteers aged 22 to 25 years, who underwent 25 air ionization sessions. The effects of genome instability were evaluated, and correlations between indicators of genome damage (lesions of micronuclei and nucleoplasmatic bridges) and parameters of proliferative and replicative activity (mitotic index, proliferative pool, the fraction of rapidly dividing cells, and replication index) of blood lymphocytes in the culture were studied. In order to establish the associations between the parameters, the parallel cultures were exposed to 0.07 mM of the standard mutagen MNNG during 5 hours. The study showed that the course of air ionization did not induce the micronuclei and nucleoplasmatic bridges in binuclear cells, but increased proliferative cell activity. This effect was accompanied by an increase in the fraction of rapidly dividing cells among all the dividing cells, and an increase in the dispersion of all proliferation parameters. MNNG induced a constant level of micronuclei in binuclear cells during the whole course, but not before the beginning of air ionization. The changes in the parameter "the fraction of dividing cells" (proliferative pool) were the most prominent manifestation of the suppression of proliferation by MNNG. MNNG loading inhibited the formation of binuclear cells most of all. The results demonstrate a non-random character of the correlation between the level of micronuclei in binuclear cells and proliferative activity parameters during cell cultivation under the conditions of cytokinetic block.

  3. A selfish genetic element influencing longevity correlates with reactive behavioural traits in female house mice (Mus domesticus).

    Science.gov (United States)

    Auclair, Yannick; König, Barbara; Lindholm, Anna K

    2013-01-01

    According to theory in life-history and animal personality, individuals with high fitness expectations should be risk-averse, while individuals with low fitness expectations should be more bold. In female house mice, a selfish genetic element, the t haplotype, is associated with increased longevity under natural conditions, representing an appropriate case study to investigate this recent theory empirically. Following theory, females heterozygous for the t haplotype (+/t) are hypothesised to express more reactive personality traits and be more shy, less explorative and less active compared to the shorter-lived homozygous wildtype females (+/+). As males of different haplotype do not differ in survival, no similar pattern is expected. We tested these predictions by quantifying boldness, exploration, activity, and energetic intake in both +/t and +/+ mice. +/t females, unlike +/+ ones, expressed some reactive-like personality traits: +/t females were less active, less prone to form an exploratory routine and tended to ingest less food. Taken together these results suggest that differences in animal personality may contribute to the survival advantage observed in +/t females but fail to provide full empirical support for recent theory.

  4. Genetic correlates of the development of theta event related oscillations in adolescents and young adults.

    Science.gov (United States)

    Chorlian, David B; Rangaswamy, Madhavi; Manz, Niklas; Meyers, Jacquelyn L; Kang, Sun J; Kamarajan, Chella; Pandey, Ashwini K; Wang, Jen-Chyong; Wetherill, Leah; Edenberg, Howard; Porjesz, Bernice

    2016-11-12

    The developmental trajectories of theta band (4-7Hz) event-related oscillations (EROs), a key neurophysiological constituent of the P3 response, were assessed in 2170 adolescents and young adults ages 12 to 25. The theta EROs occurring in the P3 response, important indicators of neurocognitive function, were elicited during the evaluation of task-relevant target stimuli in visual and auditory oddball tasks. Associations between the theta EROs and genotypic variants of 4 KCNJ6 single nucleotide polymorphisms (SNPs) were found to vary with age, sex, scalp location, and task modality. Three of the four KCNJ6 SNPs studied here were found to be significantly associated with the same theta EROs in adults in a previous family genome wide association study. Since measures of the P3 response have been found to be a useful endophenotypes for the study of a number of clinical and behavioral disorders, studies of genetic effects on its development in adolescents and young adults may illuminate neurophysiological factors contributing to the onset of these conditions.

  5. Artificial selection on relative brain size reveals a positive genetic correlation between brain size and proactive personality in the guppy.

    Science.gov (United States)

    Kotrschal, Alexander; Lievens, Eva J P; Dahlbom, Josefin; Bundsen, Andreas; Semenova, Svetlana; Sundvik, Maria; Maklakov, Alexei A; Winberg, Svante; Panula, Pertti; Kolm, Niclas

    2014-04-01

    Animal personalities range from individuals that are shy, cautious, and easily stressed (a "reactive" personality type) to individuals that are bold, innovative, and quick to learn novel tasks, but also prone to routine formation (a "proactive" personality type). Although personality differences should have important consequences for fitness, their underlying mechanisms remain poorly understood. Here, we investigated how genetic variation in brain size affects personality. We put selection lines of large- and small-brained guppies (Poecilia reticulata), with known differences in cognitive ability, through three standard personality assays. First, we found that large-brained animals were faster to habituate to, and more exploratory in, open field tests. Large-brained females were also bolder. Second, large-brained animals excreted less cortisol in a stressful situation (confinement). Third, large-brained animals were slower to feed from a novel food source, which we interpret as being caused by reduced behavioral flexibility rather than lack of innovation in the large-brained lines. Overall, the results point toward a more proactive personality type in large-brained animals. Thus, this study provides the first experimental evidence linking brain size and personality, an interaction that may affect important fitness-related aspects of ecology such as dispersal and niche exploration.

  6. Wall paintings facies and their possible genetic correlates in the ancient Pompeii: A bio-anthropologic message from the past?

    Science.gov (United States)

    Ponti, Giovanni; Manfredini, Marco; Ruini, Cristel

    2016-09-10

    The figurative arts and precisely the ancient Pompeian wall paintings portraits can provide an additional source of information in supplementing bio-anthropological studies. There are several genetic diseases with a wide spectrum of congenital bone stigmata in association to distinctive facial features. Gorlin-Goltz syndrome, also named nevoid basal cell carcinoma syndrome, is an autosomal dominant syndrome characterized by unusual skeletal changes, such as macrocephaly, facial asymmetry, hypertelorism, frontal and parietal bossing caused by germline mutations of the gene PTCH1. The Gorlin syndrome, clinically defined in 1963, existed during Dynastic Egyptian times, as revealed by a spectrum of skeletal findings compatible with the syndrome in mummies dating back to three thousand years ago and, most likely, in the ancient population of Pompeii. In the present research, we discuss the potential relationship between Pompeian wall paintings portrait and the cranio-metric bone changes revealed among the Pompeian skull collections assuming that the ancient portraits can constitute an important tool that should be strictly integrated with osteologic and biomolecular data in order to argue a syndromic diagnosis in ancient population. Copyright © 2016 Elsevier B.V. All rights reserved.

  7. A selfish genetic element influencing longevity correlates with reactive behavioural traits in female house mice (Mus domesticus.

    Directory of Open Access Journals (Sweden)

    Yannick Auclair

    Full Text Available According to theory in life-history and animal personality, individuals with high fitness expectations should be risk-averse, while individuals with low fitness expectations should be more bold. In female house mice, a selfish genetic element, the t haplotype, is associated with increased longevity under natural conditions, representing an appropriate case study to investigate this recent theory empirically. Following theory, females heterozygous for the t haplotype (+/t are hypothesised to express more reactive personality traits and be more shy, less explorative and less active compared to the shorter-lived homozygous wildtype females (+/+. As males of different haplotype do not differ in survival, no similar pattern is expected. We tested these predictions by quantifying boldness, exploration, activity, and energetic intake in both +/t and +/+ mice. +/t females, unlike +/+ ones, expressed some reactive-like personality traits: +/t females were less active, less prone to form an exploratory routine and tended to ingest less food. Taken together these results suggest that differences in animal personality may contribute to the survival advantage observed in +/t females but fail to provide full empirical support for recent theory.

  8. Human Genetic Ancestral Composition Correlates with the Origin of Mycobacterium leprae Strains in a Leprosy Endemic Population

    Science.gov (United States)

    Cardona-Castro, Nora; Cortés, Edwin; Beltrán, Camilo; Romero, Marcela; Badel-Mogollón, Jaime E.; Bedoya, Gabriel

    2015-01-01

    Recent reports have suggested that leprosy originated in Africa, extended to Asia and Europe, and arrived in the Americas during European colonization and the African slave trade. Due to colonization, the contemporary Colombian population is an admixture of Native-American, European and African ancestries. Because microorganisms are known to accompany humans during migrations, patterns of human migration can be traced by examining genomic changes in associated microbes. The current study analyzed 118 leprosy cases and 116 unrelated controls from two Colombian regions endemic for leprosy (Atlantic and Andean) in order to determine possible associations of leprosy with patient ancestral background (determined using 36 ancestry informative markers), Mycobacterium leprae genotype and/or patient geographical origin. We found significant differences between ancestral genetic composition. European components were predominant in Andean populations. In contrast, African components were higher in the Atlantic region. M. leprae genotypes were then analyzed for cluster associations and compared with the ancestral composition of leprosy patients. Two M. leprae principal clusters were found: haplotypes C54 and T45. Haplotype C54 associated with African origin and was more frequent in patients from the Atlantic region with a high African component. In contrast, haplotype T45 associated with European origin and was more frequent in Andean patients with a higher European component. These results suggest that the human and M. leprae genomes have co-existed since the African and European origins of the disease, with leprosy ultimately arriving in Colombia during colonization. Distinct M. leprae strains followed European and African settlement in the country and can be detected in contemporary Colombian populations. PMID:26360617

  9. Human Genetic Ancestral Composition Correlates with the Origin of Mycobacterium leprae Strains in a Leprosy Endemic Population.

    Science.gov (United States)

    Cardona-Castro, Nora; Cortés, Edwin; Beltrán, Camilo; Romero, Marcela; Badel-Mogollón, Jaime E; Bedoya, Gabriel

    2015-01-01

    Recent reports have suggested that leprosy originated in Africa, extended to Asia and Europe, and arrived in the Americas during European colonization and the African slave trade. Due to colonization, the contemporary Colombian population is an admixture of Native-American, European and African ancestries. Because microorganisms are known to accompany humans during migrations, patterns of human migration can be traced by examining genomic changes in associated microbes. The current study analyzed 118 leprosy cases and 116 unrelated controls from two Colombian regions endemic for leprosy (Atlantic and Andean) in order to determine possible associations of leprosy with patient ancestral background (determined using 36 ancestry informative markers), Mycobacterium leprae genotype and/or patient geographical origin. We found significant differences between ancestral genetic composition. European components were predominant in Andean populations. In contrast, African components were higher in the Atlantic region. M. leprae genotypes were then analyzed for cluster associations and compared with the ancestral composition of leprosy patients. Two M. leprae principal clusters were found: haplotypes C54 and T45. Haplotype C54 associated with African origin and was more frequent in patients from the Atlantic region with a high African component. In contrast, haplotype T45 associated with European origin and was more frequent in Andean patients with a higher European component. These results suggest that the human and M. leprae genomes have co-existed since the African and European origins of the disease, with leprosy ultimately arriving in Colombia during colonization. Distinct M. leprae strains followed European and African settlement in the country and can be detected in contemporary Colombian populations.

  10. Pollen gene flow, male reproductive success, and genetic correlations among offspring in a northern red oak (Quercus rubra L.) seed orchard.

    Science.gov (United States)

    Alexander, Lisa; Woeste, Keith

    2017-01-01

    Northern red oak is a high-value hardwood used for lumber, furniture and veneer. Intensively managed northern red oak seed orchards are required to obtain genetic gain for trait improvement. Data from conifer seed orchards and natural and managed stands of hardwood trees have shed light on the distance over which pollen can move, and underscore the need for managerial attention to seed orchard design, placement, and maintenance. We used eleven microsatellite markers to investigate pollen gene flow, female mate choice, and male reproductive success in a clonal seed orchard of northern red oak based on paternity analysis of seed orchard offspring in progeny tests. Nearly all (93%) offspring were sired by a male parent within the seed orchard. The mean number of male parents per year was 69.5, or 47.6% of all clones in the seed orchard. Female clones in the early phenology group had more offspring sired from extra-orchard pollen (13%) than clones in the intermediate (5%) and late (1%) phenology groups. Distance was the largest influence on pollination success, and pollination occurred most often by male trees in the same subline as the maternal tree. Males in the early phenology group sired more offspring overall in the progeny pool and more offspring per mother tree than males in the intermediate or late phenology groups. Average genetic correlations among all OP progeny ranged between 0.2557 and 0.3529 with a mean of 0.28±0.01. The importance of progeny test genotyping for northern red oak improvement likely is increasing with the demand for improved varieties. The current study demonstrated the feasibility of post hoc assembly of full-sib families for genetic analysis.

  11. Pollen gene flow, male reproductive success, and genetic correlations among offspring in a northern red oak (Quercus rubra L.) seed orchard

    Science.gov (United States)

    Woeste, Keith

    2017-01-01

    Northern red oak is a high-value hardwood used for lumber, furniture and veneer. Intensively managed northern red oak seed orchards are required to obtain genetic gain for trait improvement. Data from conifer seed orchards and natural and managed stands of hardwood trees have shed light on the distance over which pollen can move, and underscore the need for managerial attention to seed orchard design, placement, and maintenance. We used eleven microsatellite markers to investigate pollen gene flow, female mate choice, and male reproductive success in a clonal seed orchard of northern red oak based on paternity analysis of seed orchard offspring in progeny tests. Nearly all (93%) offspring were sired by a male parent within the seed orchard. The mean number of male parents per year was 69.5, or 47.6% of all clones in the seed orchard. Female clones in the early phenology group had more offspring sired from extra-orchard pollen (13%) than clones in the intermediate (5%) and late (1%) phenology groups. Distance was the largest influence on pollination success, and pollination occurred most often by male trees in the same subline as the maternal tree. Males in the early phenology group sired more offspring overall in the progeny pool and more offspring per mother tree than males in the intermediate or late phenology groups. Average genetic correlations among all OP progeny ranged between 0.2557 and 0.3529 with a mean of 0.28±0.01. The importance of progeny test genotyping for northern red oak improvement likely is increasing with the demand for improved varieties. The current study demonstrated the feasibility of post hoc assembly of full-sib families for genetic analysis. PMID:28166543

  12. QTL identification of grain protein concentration and its genetic correlation with starch concentration and grain weight using two populations in maize (Zea mays L.)

    Indian Academy of Sciences (India)

    Yuling Li; Yanzhao Wang; Mengguan Wei; Xuehui Li; Jiafeng Fu

    2009-04-01

    Protein is one of the three main storage chemical components in maize grains, and is negatively correlated with starch concentration (SC). Our objective was to analyse the influence of genetic backgrounds on QTL detection for protein concentration (PC) and to reveal the molecular genetic associations between PC and both SC and grain weight (GWP). Two hundred and eighty-four (Pop1) and 265 (Pop2) F2:3 families were developed from two crosses between one high-oil maize inbred GY220 and two normal maize inbreds 8984 and 8622 respectively, and were genotyped with 185 and 173 pairs of SSR markers. PC, SC and GWP were evaluated under two environments. Composite interval mapping (CIM) and multiple interval mapping (MIM) methods were used to detect single-trait QTL for PC, and multiple-trait QTL for PC with both SC and GWP. No common QTL were shared between the two populations for their four and one PC QTL. Common QTL with opposite signs of effects for PC and SC/GWP were detected on three marker intervals at bins 6.07–6.08, 8.03 and 8.03–8.04. Multiple-traits QTL mapping showed that tightly-linked QTL, pleiotropic QTL and QTL having effects with opposite directions for PC and SC/GWP were all observed in Pop1, while all QTL reflected opposite effects in Pop2.

  13. In vitro activity of beta-lactams, macrolides, telithromycin, and fluoroquinolones against clinical isolates of Streptococcus pneumoniae: correlation between drug resistance and genetic characteristics.

    Science.gov (United States)

    Yamaguchi, Toshiyuki; Hashikita, Giichi; Takahashi, Shun; Itabashi, Akira; Yamazaki, Tsutomu; Maesaki, Shigefumi

    2005-10-01

    The in vitro activity of antimicrobial agents against Streptococcus pneumoniae was determined using 16 strains of penicillin-susceptible S. pneumoniae (PSSP) and 26 strains of penicillin intermediately resistant S. pneumoniae (PISP) + penicillin-resistant S. pneumoniae (PRSP) in Japan. The minimum inhibitory concentrations (MICs) of potent antibiotics, including eight beta-lactams (benzylpenicillin, ampicillin, cefotiam, cefepime, cefditoren, faropenem, panipenem, and biapenem), three macrolides (erythromycin, clarithromycin, and azithromycin), telithromycin, and three fluoroquinolones (ciprofloxacin, levofloxacin, and gatifloxacin), were determined. Twenty-three strains exhibited genetic variations at pbp1a + pbp2x + pbp2b, which are genetic-PRSP (g-PRSP). g-PISP strains accounted for 62.5% (10/16) of the PSSP strains. The existence of an abnormal pbp gene conferred not only penicillin resistance but resistance to cephems; however, panipenem and biapenem had potent in vitro efficacy against alterations. Regarding the macrolide resistance mechanisms (mefA or ermB): 16 isolates had only mefA, 18 isolates had ermB, and 2 isolates had both mefA and ermB. There was no correlation between the existence of an abnormal pbp gene and the existence of the mefA gene or the ermB gene.

  14. Correlation between host specificity and genetic diversity for the muscle-dwelling fish parasite Myxobolus pseudodispar: examples of myxozoan host-shift?

    Science.gov (United States)

    Forro, Barbara; Eszterbauer, Edit

    2016-06-02

    Myxobolus pseudodispar Gorbunova, 1936 (Myxozoa) is capable of infecting and developing mature myxospores in several cyprinid species. However, M. pseudodispar isolates from different fish show up to 5% differences in the SSU rDNA sequences. This is an unusually large intraspecific difference for myxozoans and only some of the muscle-dwelling myxozoan species possess such a high genetic variability. We intended to study the correlation between the host specificity and the phylogenetic relationship of the parasite isolates, and to find experimental proof for the putatively wide host range of M. pseudodispar with cross-infection experiments and phylogenetic analyses based on SSU rDNA. The experimental findings distinguished 'primary' and less-susceptible 'secondary' hosts. With some exceptions, M. pseudodispar isolates showed a tendency to cluster according to the fish host on the phylogenetic tree. Experimental and phylogenetic findings suggest the cryptic nature of the species. It is likely that host-shift occurred for M. pseudodispar and the parasite speciation in progress might explain the high genetic diversity among isolates which are morphologically indistinguishable.

  15. A Preliminary Study of DBH (Encoding Dopamine Beta-Hydroxylase) Genetic Variation and Neural Correlates of Emotional and Motivational Processing in Individuals With and Without Pathological Gambling.

    Science.gov (United States)

    Yang, Bao-Zhu; Balodis, Iris M; Lacadie, Cheryl M; Xu, Jiansong; Potenza, Marc N

    2016-06-01

    Background and aims Corticostriatal-limbic neurocircuitry, emotional and motivational processing, dopaminergic and noradrenergic systems and genetic factors have all been implicated in pathological gambling (PG). However, allelic variants of genes influencing dopaminergic and noradrenergic neurotransmitters have not been investigated with respect to the neural correlates of emotional and motivational states in PG. Dopamine beta-hydroxylase (DBH) converts dopamine to norepinephrine; the T allele of a functional single-nucleotide polymorphism rs1611115 (C-1021T) in the DBH gene is associated with less DBH activity and has been linked to emotional processes and addiction. Here, we investigate the influence of rs1611115 on the neural correlates of emotional and motivational processing in PG and healthy comparison (HC) participants. Methods While undergoing functional magnetic resonance imaging, 18 PG and 25 HC participants, all European Americans, viewed gambling-, sad-, and cocaine-related videotapes. Analyses focused on brain activation differences related to DBH genotype (CC/T-carrier [i.e., CT and TT]) and condition (sad/gambling/cocaine). Results CC participants demonstrated greater recruitment of corticostriatal-limbic regions, relative to T-carriers. DBH variants were also associated with altered corticostriatal-limbic activations across the different videotape conditions, and this association appeared to be driven by greater activation in CC participants relative to T-carriers during the sad condition. CC relative to T-carrier subjects also reported greater subjective sadness to the sad videotapes. Conclusions Individual differences in genetic composition linked to aminergic function contribute significantly to emotional regulation across diagnostic groups and warrant further investigation in PG.

  16. The prevalence and genetic characterization of Chlamydia psittaci from domestic and feral pigeons in Poland and the correlation between infection rate and incidence of pigeon circovirus.

    Science.gov (United States)

    Stenzel, Tomasz; Pestka, Daria; Choszcz, Dariusz

    2014-12-01

    Chlamydiosis is a zoonotic disease caused by Chlamydia psittaci that occurs in a wide range of bird species. High infection rates with C. psittaci are found in pigeons, which can act as vectors transmitting this bacterium to poultry and humans. Chlamydia shedding by pigeons is intermittent and can be activated by stressors or immunosuppression. The most common immunosuppressive factor for pigeons is a pigeon circovirus (PiCV) infection. The main aim of the study was to evaluate the prevalence of C. psittaci in Polish populations of domestic and feral pigeons (Columba livia) in the context of its correlation with PiCV infections. The second objective was to determine the genetic characteristics of Polish C. psittaci isolates. The study was conducted on 377 pigeon samples (276 domestic and 101 feral pigeons) collected from pigeons from different regions of Poland. The average prevalence of C. psittaci in the Polish pigeon population was determined at 6.8%, and it was higher in domestic than in feral pigeons. This is the first ever study to suggest a potential correlation between C. psittaci and PiCV infections, which could be attributed to the fact that there are 2 to 3 times more pigeons infected with C. psittaci and coinfected with PiCV than pigeons infected with C. psittaci alone. This trend was observed mainly in the population of sick pigeons. As many as 88.2% of isolates were recognized as belonging to genotype B, and the remaining isolates were identified as belonging to genotype E. The isolates analyzed in this study demonstrated low levels of genetic variation (96-100% homology among the isolates and in relation to reference strains). Chlamydia psittaci could be expected to spread across pigeon populations due to the high probability of mutual infections between birds and the increasing number of PiCV infections.

  17. Identifying QTL and genetic correlations between fur quality traits in mink (Neovison vison)

    DEFF Research Database (Denmark)

    Thirstrup, Janne Pia; Anistoroaei, Razvan Marian; Guldbrandtsen, Bernt;

    2014-01-01

    Mapping of QTL affecting fur quality traits (guard hair length, guard hair thickness, density of wool, surface of the fur and quality) and skin length was performed in a three-generation mink population (F design). In the parental generation, Nordic Brown mink were crossed reciprocally with Ameri......Mapping of QTL affecting fur quality traits (guard hair length, guard hair thickness, density of wool, surface of the fur and quality) and skin length was performed in a three-generation mink population (F design). In the parental generation, Nordic Brown mink were crossed reciprocally...... correlations and heritabilities were estimated using the average information-restricted maximum-likelihood method. Evidence was found for QTL affecting fur quality traits on nine autosomes. QTL were detected for guard hair thickness on chromosomes 1, 2, 3, 6 and 13; for guard hair length on chromosomes 2, 3...... and 6; for wool density on chromosomes 6 and 13; for surface on chromosomes 7, 12 and 13; for quality on chromosomes 6, 7, 11 and 13; and for skin length on chromosomes 7 and 9. Proximity of locations of QTL for guard hair length, guard hair thickness and for wool density and quality suggests that some...

  18. Physiological and genetic correlates of boldness: characterising the mechanisms of behavioural variation in rainbow trout, Oncorhynchus mykiss.

    Science.gov (United States)

    Thomson, Jack S; Watts, Phillip C; Pottinger, Tom G; Sneddon, Lynne U

    2011-01-01

    Bold, risk-taking animals have previously been putatively linked with a proactive stress coping style whereas it is suggested shyer, risk-averse animals exhibit a reactive coping style. The aim of this study was to investigate whether differences in the expression of bold-type behaviour were evident within and between two lines of rainbow trout, Oncorhynchus mykiss, selectively bred for a low (LR) or high (HR) endocrine response to stress, and to link boldness and stress responsiveness with the expression of related candidate genes. Boldness was determined in individual fish over two trials by measuring the latency to approach a novel object. Differences in plasma cortisol concentrations and the expression of eight novel candidate genes previously identified as being linked with divergent behaviours or stress were determined. Bold and shy individuals, approaching the object within 180 s or not approaching within 300 s respectively, were evident within each line, and this was linked with activity levels in the HR line. Post-stress plasma cortisol concentrations were significantly greater in the HR line compared with the LR line, and six of the eight tested genes were upregulated in the brains of LR fish compared with HR fish. However, no direct relationship between boldness and either stress responsiveness or gene expression was found, although clear differences in stress physiology and, for the first time, gene expression could be identified between the lines. This lack of correlation between physiological and molecular responses and behavioural variation within both lines highlights the complexity of the behavioural-physiological complex.

  19. Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

    Science.gov (United States)

    Viollet, Louis; Glusman, Gustavo; Murphy, Kelley J; Newcomb, Tara M; Reyna, Sandra P; Sweney, Matthew; Nelson, Benjamin; Andermann, Frederick; Andermann, Eva; Acsadi, Gyula; Barbano, Richard L; Brown, Candida; Brunkow, Mary E; Chugani, Harry T; Cheyette, Sarah R; Collins, Abigail; DeBrosse, Suzanne D; Galas, David; Friedman, Jennifer; Hood, Lee; Huff, Chad; Jorde, Lynn B; King, Mary D; LaSalle, Bernie; Leventer, Richard J; Lewelt, Aga J; Massart, Mylynda B; Mérida, Mario R; Ptáček, Louis J; Roach, Jared C; Rust, Robert S; Renault, Francis; Sanger, Terry D; Sotero de Menezes, Marcio A; Tennyson, Rachel; Uldall, Peter; Zhang, Yue; Zupanc, Mary; Xin, Winnie; Silver, Kenneth; Swoboda, Kathryn J

    2015-01-01

    Mutations in ATP1A3 cause Alternating Hemiplegia of Childhood (AHC) by disrupting function of the neuronal Na+/K+ ATPase. Published studies to date indicate 2 recurrent mutations, D801N and E815K, and a more severe phenotype in the E815K cohort. We performed mutation analysis and retrospective genotype-phenotype correlations in all eligible patients with AHC enrolled in the US AHC Foundation registry from 1997-2012. Clinical data were abstracted from standardized caregivers' questionnaires and medical records and confirmed by expert clinicians. We identified ATP1A3 mutations by Sanger and whole genome sequencing, and compared phenotypes within and between 4 groups of subjects, those with D801N, E815K, other ATP1A3 or no ATP1A3 mutations. We identified heterozygous ATP1A3 mutations in 154 of 187 (82%) AHC patients. Of 34 unique mutations, 31 (91%) are missense, and 16 (47%) had not been previously reported. Concordant with prior studies, more than 2/3 of all mutations are clusteredin exons 17 and 18. Of 143 simplex occurrences, 58 had D801N (40%), 38 had E815K(26%) and 11 had G947R (8%) mutations [corrected].Patients with an E815K mutation demonstrate an earlier age of onset, more severe motor impairment and a higher prevalence of status epilepticus. This study further expands the number and spectrum of ATP1A3 mutations associated with AHC and confirms a more deleterious effect of the E815K mutation on selected neurologic outcomes. However, the complexity of the disorder and the extensive phenotypic variability among subgroups merits caution and emphasizes the need for further studies.

  20. Dermatoglyphics and Cheiloscopy as Key Tools in Resolving the Genetic Correlation of Inheritance Patterns in Cleft Lip and Palate Patients: An Assessment of 160 Patients.

    Science.gov (United States)

    Singh, Priyankar; Nathani, Dipesh B

    2017-09-01

      The objective of this study was to correlate dermatoglyphics and cheiloscopy with genetic inheritance in cleft lip and cleft palate patients.   This was a case-control study to look for asymmetry in finger and lip print patterns. All of the participants were divided into two equal groups (40 mothers and 40 fathers in each group). The data were analyzed by three evaluators who were blind to the study to avoid any chances of error.   A sample of 160 sporadic participants were identified and evaluated. Group A was composed of 80 healthy parents not affected by cleft lip and cleft palate but had at least one child born with nonsyndromic cleft. Group B consisted of 80 healthy parents not affected by cleft lip and cleft palate and had healthy children without cleft lip and cleft palate.   Main outcome measures were marked dermatoglyphic asymmetry and specific lip print pattern in the study group.   We found marked asymmetry in various fingerprints and specific type II and type III lip print in the study group when compared with the control group. It was observed that groove count on the lip was significantly more frequent in study group parents.   Our study determined that there is a significant correlation between increased dermatoglyphic asymmetry and specific type II and type III lip print pattern in parents of children born with cleft. This could act as an important screening marker for the prediction of cleft lip and cleft palate inheritance.

  1. Genetic Correlation Analysis of Flavor Quality Traits of Tomato%番茄果实风味品质性状的遗传相关分析

    Institute of Scientific and Technical Information of China (English)

    刘静

    2015-01-01

    The test is executed for studying genetic correlation of fruit flavor quality, it took the theoretic components of variance and covariance, estimated the flavor influence of main composition material of sugar quantity, acid quantity and the ratio of sugar and acid. The test result shows that the influence element of organic acid is citric acid, simple sugar is fructose;the correlation of the flavor qual-ity trait and taste is not obvious.%为研究果实风味品质性状的遗传相关性,采用方差、协方差的理论成分,估算风味品质主要构成物质糖量、酸量和糖酸比含量对番茄风味的影响。试验结果表明:影响果实风味的有机酸为柠檬酸、单糖为果糖;风味品质性状与口感的相关关系不显著。

  2. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

    Science.gov (United States)

    Hanein, Sylvain; Perrault, Isabelle; Gerber, Sylvie; Tanguy, Gaëlle; Barbet, Fabienne; Ducroq, Dominique; Calvas, Patrick; Dollfus, Hélène; Hamel, Christian; Lopponen, Tuija; Munier, Francis; Santos, Louisa; Shalev, Stavit; Zafeiriou, Dimitrios; Dufier, Jean-Louis; Munnich, Arnold; Rozet, Jean-Michel; Kaplan, Josseline

    2004-04-01

    Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies, responsible for congenital blindness. Disease-associated mutations have been hitherto reported in seven genes. These genes are all expressed preferentially in the photoreceptor cells or the retinal pigment epithelium but they are involved in strikingly different physiologic pathways resulting in an unforeseeable physiopathologic variety. This wide genetic and physiologic heterogeneity that could largely increase in the coming years, hinders the molecular diagnosis in LCA patients. The genotyping is, however, required to establish genetically defined subgroups of patients ready for therapy. Here, we report a comprehensive mutational analysis of the all known genes in 179 unrelated LCA patients, including 52 familial and 127 sporadic (27/127 consanguineous) cases. Mutations were identified in 47.5% patients. GUCY2D appeared to account for most LCA cases of our series (21.2%), followed by CRB1 (10%), RPE65 (6.1%), RPGRIP1 (4.5%), AIPL1 (3.4%), TULP1 (1.7%), and CRX (0.6%). The clinical history of all patients with mutations was carefully revisited to search for phenotype variations. Sound genotype-phenotype correlations were found that allowed us to divide patients into two main groups. The first one includes patients whose symptoms fit the traditional definition of LCA, i.e., congenital or very early cone-rod dystrophy, while the second group gathers patients affected with severe yet progressive rod-cone dystrophy. Besides, objective ophthalmologic data allowed us to subdivide each group into two subtypes. Based on these findings, we have drawn decisional flowcharts directing the molecular analysis of LCA genes in a given case. These flowcharts will hopefully lighten the heavy task of genotyping new patients but only if one has access to the most precise clinical history since birth.

  3. Correlações fenotípica, genética aditiva e ambiental em cenoura Phenotypic, additive genetic and environmental correlations in carrots

    Directory of Open Access Journals (Sweden)

    Walter José Siqueira

    1993-01-01

    ízes comerciáveis (PC e produção total (PT. Finalmente, discute-se a participação relativa dos efeitos de ambiente e genéticos na correlação fenotípica.Since development of commercial varieties involves simultaneous selection for various traits, previous knowledge of their interrelationships may also be fundamental to the breeder as the strategies to be adopted. The objective of this research was to estimate phenotypic, additive genetic and environmental correlations for a number of traits of agronomic interest in carrot (Daucus carota L. cultivar Campinas, grown during the fall-winter and spring-summer seasons at the Experiment Station of Monte Alegre do Sul, Instituto Agronômico de Campinas (IAC, State of São Paulo, Brazil. This germplasm, originated from the "Seção de Hortaliças" (IAC, presents, besides a high level of resistance to Alternaria dauci, a large variation for root shape and a tendency to early bolting, stimulated by low temperatures and/or long photoperiods during the crop vegetative stage. Data were obtained by evaluating 102 half-sib progenies on a randomized block design experiment with four and three replications, respectively, for the fall-winter and spring-summer planting dates. Phenotypic (rF, additive genetic (rA and environmental (rE correlations were estimated by covariance analyses between pairs of characters, in both planting dates. The phenotypic and additive genetic correlations were negative only for pairs of characters involving percentage of early flowering (EF or percentage of defective roots, while the correlations were high (>0.5 for most of the pairs of characters in both planting dates. Selection for percentage of cylindric marketable roots will lead to reduction in EF as well as increases in marketable root yield and total root yield in both planting. This research further presents a discussion of the relative participation of environmental and genetic effects in the phenotypic correlation.

  4. Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.

    Directory of Open Access Journals (Sweden)

    Takehiko Naito

    Full Text Available The present study of KCNQ4 mutations was carried out to 1 determine the prevalence by unbiased population-based genetic screening, 2 clarify the mutation spectrum and genotype/phenotype correlations, and 3 summarize clinical characteristics. In addition, a review of the reported mutations was performed for better understanding of this deafness gene. The screening using 287 probands from unbiased Japanese autosomal dominant nonsyndromic hearing loss (ADNSHL families identified 19 families with 7 different disease causing mutations, indicating that the frequency is 6.62% (19/287. While the majority were private mutations, one particular recurrent mutation, c.211delC, was observed in 13 unrelated families. Haplotype analysis in the vicinity of c.211delC suggests existence of a common ancestor. The majority of the patients showed all frequency, but high-frequency predominant, sensorineural hearing loss. The present study adds a new typical audiogram configuration characterized by mid-frequency predominant hearing loss caused by the p.V230E mutation. A variant at the N-terminal site (c. 211delC showed typical ski-slope type audiogram configuration. Concerning clinical features, onset age was from 3 to 40 years old, and mostly in the teens, and hearing loss was gradually progressive. Progressive nature is a common feature of patients with KCNQ4 mutations regardless of the mutation type. In conclusion, KCNQ4 mutations are frequent among ADNSHL patients, and therefore screening of the gene and molecular confirmation of these mutations have become important in the diagnosis of these conditions.

  5. Mapping the subcellular distribution of α-synuclein in neurons using genetically encoded probes for correlated light and electron microscopy: implications for Parkinson's disease pathogenesis.

    Science.gov (United States)

    Boassa, Daniela; Berlanga, Monica L; Yang, Mary Ann; Terada, Masako; Hu, Junru; Bushong, Eric A; Hwang, Minju; Masliah, Eliezer; George, Julia M; Ellisman, Mark H

    2013-02-06

    Modifications to the gene encoding human α-synuclein have been linked to the development of Parkinson's disease. The highly conserved structure of α-synuclein suggests a functional interaction with membranes, and several lines of evidence point to a role in vesicle-related processes within nerve terminals. Using recombinant fusions of human α-synuclein, including new genetic tags developed for correlated light microscopy and electron microscopy (the tetracysteine-biarsenical labeling system or the new fluorescent protein for electron microscopy, MiniSOG), we determined the distribution of α-synuclein when overexpressed in primary neurons at supramolecular and cellular scales in three dimensions (3D). We observed specific association of α-synuclein with a large and otherwise poorly characterized membranous organelle system of the presynaptic terminal, as well as with smaller vesicular structures within these boutons. Furthermore, α-synuclein was localized to multiple elements of the protein degradation pathway, including multivesicular bodies in the axons and lysosomes within neuronal cell bodies. Examination of synapses in brains of transgenic mice overexpressing human α-synuclein revealed alterations of the presynaptic endomembrane systems similar to our findings in cell culture. Three-dimensional electron tomographic analysis of enlarged presynaptic terminals in several brain areas revealed that these terminals were filled with membrane-bounded organelles, including tubulovesicular structures similar to what we observed in vitro. We propose that α-synuclein overexpression is associated with hypertrophy of membrane systems of the presynaptic terminal previously shown to have a role in vesicle recycling. Our data support the conclusion that α-synuclein is involved in processes associated with the sorting, channeling, packaging, and transport of synaptic material destined for degradation.

  6. Mapping the subcellular distribution of alpha-synuclein in neurons using genetically encoded probes for correlated light and electron microscopy: Implications for Parkinson’s disease pathogenesis

    Science.gov (United States)

    Boassa, D.; Berlanga, M.L.; Yang, M.-L.; Terada, M.; Hu, J.; Bushong, E.A.; Hwang, M.; Masliah, E.; George, J.M.; Ellisman, M.H.

    2013-01-01

    Modifications to the gene encoding human alpha-synuclein have been linked to development of Parkinson’s disease. The highly conserved structure of alpha-synuclein suggests a functional interaction with membranes, and several lines of evidence point to a role in vesicle-related processes within nerve terminals. Using recombinant fusions of human alpha-synuclein including new genetic tags developed for correlated LM and EM (the tetracysteine-biarsenical labeling system or the new fluorescent protein for EM, MiniSOG), we determined the distribution of alpha-synuclein when over-expressed in primary neurons at supramolecular and cellular scales, in three dimensions (3D). We observed specific association of alpha-synuclein with a large and otherwise poorly characterized membranous organelle system of the presynaptic terminal, as well as with smaller vesicular structures within these boutons. Furthermore, alpha-synuclein was localized to multiple elements of the protein degradation pathway, including multivesicular bodies in the axons and lysosomes within neuronal cell bodies. Examination of synapses in brains of transgenic mice over-expressing human alpha-synuclein revealed alterations of the presynaptic endomembrane systems similar to our findings in cell culture. 3D electron tomographic analysis of enlarged presynaptic terminals in several brain areas revealed that these terminals were filled with membrane-bounded organelles, including tubulo-vesicular structures similar to what observed in vitro. We propose that alpha-synuclein over-expression is associated with hypertrophy of membrane systems of the presynaptic terminal previously shown to have a role in vesicle recycling. Our data support the conclusion that alpha- synuclein is involved in processes associated with the sorting, channeling, packaging and transport of synaptic material destined for degradation. PMID:23392688

  7. Variabilidade genética e correlações entre caracteres de feijão-caupi = Genetic variability and correlations between characters in cowpea

    Directory of Open Access Journals (Sweden)

    Agenor Martinho Correa

    2015-03-01

    which characters can be used for selection of superior genotypes. The experiment was conducted at the Universidade Estadual do Mato Grosso do Sul, in Aquidauna, during “dry” years of 2009. The treatments consisted of 20 genotypes of cowpea, 11 cultivars (Canapuzinho, Canapuzinho-2, Inhuma, Pingoof-gold-1-2, Pingo-of-gold-2, Paulistinha, Patativa, Paraguassu-BRS, BRS-Millennium, BR17-Gurguéia and BRS-Marataoã and 9 strains (MNC99-510F-16-1, MNC99-510F-16-3, MNC99-537F-14-2, MNC01-611F-11, MNC01-614F-15, MNC01-631F-11, MNC01-631F-15, MNC01-631F-20-5, MNC01-649E-2. The experimental design was a completely randomized block design with four replications. It was evaluated the characters: early flowering, early maturation, mass of 100 grains, green pod length, green pod mass, number of grains per pod and dry yield grains. To verify the existence of variability between genotypes, data were subjected to analysis of variance by F-test. Subsequently, it was determined following genetic parameters: environmental variance, phenotypic and genotypic; experimental and genotypic coefficient of variation; genotypic coefficient of determination; quotient b; environmental, phenotypic and genetic correlations. The population presents genetic variability and potential for genetic improvement. Based on the evaluated parameters, the breeding programs in cowpea can perform the selection of genotypes based on the characters: days to maturity, green mass of pods, number of seeds per pod and grain yield.

  8. Neutral and Stable Equilibria of Genetic Systems and The Hardy-Weinberg Principle: Limitations of the Chi-Square Test and Advantages of Auto-Correlation Functions of Allele Frequencies

    Directory of Open Access Journals (Sweden)

    Francisco A Bosco

    2012-12-01

    Full Text Available Since the foundations of Population Genetics the notion of genetic equilibrium (in close analogy to Classical Mechanics has been associated with the Hardy-Weinberg (HW Principle and the identification of equilibrium is currently assumed by stating that the HW axioms are valid if appropriate values of Chi-Square (p<0.05 are observed in experiments. Here we show by numerical experiments with the genetic system of one locus/two alleles that considering large ensembles of populations the Chi-Square test is not decisive and may lead to false negatives in random mating populations and false positives in nonrandom mating populations. This result confirms the logical statement that statistical tests cannot be used to deduce if the genetic population is under the HW conditions. Furthermore, we show that under the HW conditions populations of any size evolve in time according to what can be identified as neutral dynamics to which the very notion of equilibrium is unattainable for any practical purpose. Therefore, under the HW conditions the identification of equilibrium properties needs a different approach and the use of more appropriate concepts. We also show that by relaxing the condition of random mating the dynamics acquires all the characteristics of asymptotic stable equilibrium. As a consequence our results show that the question of equilibrium in genetic systems should be approached in close analogy to non-equilibrium statistical physics and its observability should be focused on dynamical quantities like the typical decay properties of the allelic auto correlation function in time. In this perspective one should abandon the classical notion of genetic equilibrium and its relation to the HW proportions and open investigations in the direction of searching for unifying general principles of population genetic transformations capable to take in consideration these systems in their full complexity.

  9. Northern range expansion of European populations of the wasp spider Argiope bruennichi is associated with global warming-correlated genetic admixture and population-specific temperature adaptations.

    Science.gov (United States)

    Krehenwinkel, Henrik; Tautz, Diethard

    2013-04-01

    Poleward range expansions are observed for an increasing number of species, which may be an effect of global warming during the past decades. However, it is still not clear in how far these expansions reflect simple geographical shifts of species ranges, or whether new genetic adaptations play a role as well. Here, we analyse the expansion of the wasp spider Argiope bruennichi into Northern Europe during the last century. We have used a range-wide sampling of contemporary populations and historical specimens from museums to trace the phylogeography and genetic changes associated with the range shift. Based on the analysis of mitochondrial, microsatellite and SNP markers, we observe a higher level of genetic diversity in the expanding populations, apparently due to admixture of formerly isolated lineages. Using reciprocal transplant experiments for testing overwintering tolerance, as well as temperature preference and tolerance tests in the laboratory, we find that the invading spiders have possibly shifted their temperature niche. This may be a key adaptation for survival in Northern latitudes. The museum samples allow a reconstruction of the invasion's genetic history. A first, small-scale range shift started around 1930, in parallel with the onset of global warming. A more massive invasion of Northern Europe associated with genetic admixture and morphological changes occurred in later decades. We suggest that the latter range expansion into far Northern latitudes may be a consequence of the admixture that provided the genetic material for adaptations to new environmental regimes. Hence, global warming could have facilitated the initial admixture of populations and this resulted in genetic lineages with new habitat preferences.

  10. ERCC2 2251A>C genetic polymorphism was highly correlated with early relapse in high-risk stage II and stage III colorectal cancer patients: A preliminary study

    Directory of Open Access Journals (Sweden)

    Lee Su-Chen

    2008-02-01

    Full Text Available Abstract Background Early relapse in colorectal cancer (CRC patients is attributed mainly to the higher malignant entity (such as an unfavorable genotype, deeper tumor invasion, lymph node metastasis and advance cancer stage and poor response to chemotherapy. Several investigations have demonstrated that genetic polymorphisms in drug-targeted genes, metabolizing enzymes, and DNA-repairing enzymes are all strongly correlated with inter-individual differences in the efficacy and toxicity of many treatment regimens. This preliminary study attempts to identify the correlation between genetic polymorphisms and clinicopathological features of CRC, and evaluates the relationship between genetic polymorphisms and chemotherapeutic susceptibility of Taiwanese CRC patients. To our knowledge, this study discusses, for the first time, early cancer relapse and its indication by multiple genes. Methods Six gene polymorphisms functional in drug-metabolism – GSTP1 Ile105Val, ABCB1 Ile1145Ile, MTHFR Ala222Val, TYMS double (2R or triple (3R tandem repeat – and DNA-repair genes – ERCC2 Lys751Gln and XRCC1 Arg399Gln – were assessed in 201 CRC patients using a polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP technique and DNA sequencing. Patients were diagnosed as either high-risk stage II (T2 and 3 N0 M0 or III (any T N1 and 2 M0 and were administered adjuvant chemotherapy regimens that included 5-fluorouracil (5FU and leucovorin (LV. The correlations between genetic polymorphisms and patient clinicopathological features and relapses were investigated. Results In this study, the distributions of GSTP1 (P = 0.003, ABCB1 (P = 0.001, TYMS (P ERCC2 (P XRCC1 (P = 0.006 genotypes in the Asian population, with the exception of MTHFR (P = 0.081, differed significantly from their distributions in a Caucasian population. However, the unfavorable genotype ERCC2 2251A>C (P = 0.006, tumor invasion depth (P = 0.025, lymph node metastasis (P = 0

  11. Heritability of body surface temperature in hens estimated by infrared thermography at normal or hot temperatures and genetic correlations with egg and feather quality

    NARCIS (Netherlands)

    Loyau, T.; Zerjal, T.; Rodenburg, T.B.; Fablet, J.; Tixier-Boichard, M.; Pinard-van der Laan, M.H.; Mignon-Grasteau, S.

    2016-01-01

    Exposure of laying hens to chronic heat stress results in loss of egg production. It should be possible to improve hen resilience to chronic heat stress by genetic selection but measuring their sensitivity through internal temperature is time consuming and is not very precise. In this study we

  12. Genetic disruption of calpain correlates with loss of membrane blebbing and differential expression of RhoGDI-1, cofilin and tropomyosin

    DEFF Research Database (Denmark)

    Larsen, Anna K; Lametsch, René; Elce, John S

    2008-01-01

    blebbing was significantly reduced in calpain-knockout cells, and genetic rescue fully restored the wild-type phenotype in knockout cells. Proteomic comparison of wild-type and knockout cells identified decreased levels of RhoGDI-1 (Rho GDP-dissociation inhibitor) and cofilin 1, and increased levels...

  13. Rationale and design of GISSI OUTLIERS VAR Study in bicuspid aortic valve patients: prospective longitudinal, multicenter study to investigate correlation between surgical, echo distinctive features, histologic and genetic findings in phenotypically homogeneous outlier cases.

    Science.gov (United States)

    Merlanti, Bruno; De Chiara, Benedetta; Maggioni, Aldo Pietro; Moreo, Antonella; Pileggi, Silvana; Romeo, Gabriella; Russo, Claudio Francesco; Rizzo, Stefania; Martinelli, Luigi; Maseri, Attilio

    2015-11-15

    Bicuspid aortic valve (BAV) is the most common congenital heart disorder, affecting up to 2% of the population. Involvement of aortic root and ascending aorta (aneurysm or, eventually, dissection) is frequent in patients with pathologic or normal functioning BAV. Unfortunately, there are no well-known correlations between valvular and vascular diseases. In VAR protocol, with a new strategy of research, we analysemultiple aspects of BAV disease through correlation between surgical, echo, histologic and genetic findings in phenotypically homogeneous outlier cases. VAR protocol is a prospective, longitudinal, multicenter study. It observes 4 homogeneous small groups of BAV surgical patients (15 patients each): isolated aortic regurgitation, isolated ascending aortic aneurysm, aortic regurgitation associated with aortic aneurysm, isolated aortic stenosis in older patients (>60years). Echo analysis is extended to first-degree relatives and, in case of BAV, genetic test is performed. Patients and relatives are enrolled in 10 cardiac surgery/cardiologic centers throughout Italy. The aim of the study is to identify predictors of favorable or unfavorable evolution of BAV in terms of valvular dysfunction and/or aortic aneurysm. Correlations between different features could help in identification of various BAV risk groups, rationalizing follow-up and treatment. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  14. Improving the efficiency of feed utilization in poultry by selection. 2. Genetic parameters of excretion traits and correlations with anatomy of the gastro-intestinal tract and digestive efficiency

    Directory of Open Access Journals (Sweden)

    Urvoix Séverine

    2011-08-01

    Full Text Available Abstract Background Poultry production has been widely criticized for its negative environmental impact related to the quantity of manure produced and to its nitrogen and phosphorus content. In this study, we investigated which traits related to excretion could be used to select chickens for lower environmental pollution. The genetic parameters of several excretion traits were estimated on 630 chickens originating from 2 chicken lines divergently selected on apparent metabolisable energy corrected for zero nitrogen (AMEn at constant body weight. The quantity of excreta relative to feed consumption (CDUDM, the nitrogen and phosphorus excreted, the nitrogen to phosphorus ratio and the water content of excreta were measured, and the consequences of such selection on performance and gastro-intestinal tract (GIT characteristics estimated. The genetic correlations between excretion, GIT and performance traits were established. Results Heritability estimates were high for CDUDM and the nitrogen excretion rate (0.30 and 0.29, respectively. The other excretion measurements showed low to moderate heritability estimates, ranging from 0.10 for excreta water content to 0.22 for the phosphorus excretion rate. Except for the excreta water content, the CDUDM was highly correlated with the excretion traits, ranging from -0.64 to -1.00. The genetic correlations between AMEn or CDUDM and the GIT characteristics were very similar and showed that a decrease in chicken excretion involves an increase in weight of the upper part of the GIT, and a decrease in the weight of the small intestine. Conclusion In order to limit the environmental impact of chicken production, AMEn and CDUDM seem to be more suitable criteria to include in selection schemes than feed efficiency traits.

  15. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham study

    OpenAIRE

    2007-01-01

    Abstract Background Brain magnetic resonance imaging (MRI) and cognitive tests can identify heritable endophenotypes associated with an increased risk of developing stroke, dementia and Alzheimer's disease (AD). We conducted a genome-wide association (GWA) and linkage analysis exploring the genetic basis of these endophenotypes in a community-based sample. Methods A total of 705 stroke- and dementia-free Framingham participants (age 62 +9 yrs, 50% male) who underwent volumetric brain MRI and ...

  16. Genetic determination of fast plasma glucose concentration and correlation with anthropometric indices%空腹血糖的遗传率及其与人体测量学指标的遗传相关分析

    Institute of Scientific and Technical Information of China (English)

    简蔚霞; 苏青; 罗敏

    2009-01-01

    Objective To study the genetic determination of fast plasma glucose (FPG) and correlation with its potential correlated traits, anthropometric measures and blood pressure. Methods Two hundred and eighteen Type 2 diabetes mellitus(T2DM) pedigrees composed of 1383 Chinese Han individuals residing in the East and South-East China were analyzed. Univariate variance decomposition analyses were used to estimate the narrow-sense heritability (h2) of FPG, anthropometric indices and blood pressure, and bivariate quantitative genetic analyses were used to estimate the genetic and environmental correlations between FPG and anthropometric measures or blood pressure. Results We found that FPG, blood pressure and all anthropometric indices except for waist to hip ratio were under significant genetic determination, and the h2 was from 0.28 to 0.43. We did not find significant genetic and environmental correlation between FPG and anthropometric indices and blood pressure. Conclusion The present study demonstrated that T2DM, obesity and hypertension were controlled by some genetic factors, and FPG shares little common genetic and environmental factors with obesity-related anthropometric indices and blood pressure in our Chinese sample population.%目的 研究空腹血糖的遗传率及其与肥胖相关人体测量学指标和血压的遗传相关.方法 分析由1383个个体组成的218个2型糖尿病家系,采用单变量方差分解分析估计空腹血糖,人体测量学指标和血压的狭义遗传率(h2),双变量数量性状遗传分析估计空腹血糖和人体测量学指标及血压间的遗传及环境相关.结果 空腹血糖,血压和除腰臀比之外的人体测量学指标都受显著的遗传决定作用,h的范围为0.28~0.43.空腹血糖与肥胖相关人体测量学指标等数量性状之间的遗传或环境相关分析未发现显著结果.结论 本研究结果表明2型糖尿病,高血压和肥胖为一定的遗传因素所控制,而空腹血糖与

  17. Genetic Discrimination

    Science.gov (United States)

    ... in Genetics Archive Regulation of Genetic Tests Genetic Discrimination Overview Many Americans fear that participating in research ... I) and employment (Title II). Read more Genetic Discrimination and Other Laws Genetic Discrimination and Other Laws ...

  18. Genotrim, a DNA-customized nutrigenomic product, targets genetic factors of obesity: hypothesizing a dopamine-glucose correlation demonstrating reward deficiency syndrome (RDS).

    Science.gov (United States)

    Blum, Kenneth; Chen, Thomas J H; Meshkin, Brian; Downs, B William; Gordon, Cory A; Blum, Seth; Mangucci, Julie F; Braverman, Eric R; Arcuri, Vanessa; Deutsch, Roger; Pons, Manuel-Martinez-

    2007-01-01

    Obesity is the second largest cause of preventable death in the United States. Historically, obesity was considered a behavioral problem that could be simply addressed with behavioral modifications in diet and exercise. As scientific advancements have demonstrated in other neurological healthcare conditions such as alcoholism, there are important biological and genetic components that limit the efficacy of behavioral adjustments alone. In light of data suggesting frequent co-morbidities to obesity, including diabetes mellitus, atherosclerosis, osteoporosis, and potentially others, we hypothesize that the biologic and genetic factors, synergistically with behavioral modifications, must be addressed to adequately treat this disease. We hypothesize that one such genetic factor that influences behavior and thus obesity is a predisposition to glucose craving and the overall effect of dopaminergic activity in the reward center of the brain. This defect drives individuals to engage in activities of behavioral excess, which will increase brain dopamine function, for which we have created the term reward deficiency syndrome (RDS) to categorize such biological influences on behavior. Consuming large quantities of alcohol or carbohydrates (carbohydrate bingeing) stimulates the brain's production of and utilization of dopamine. So too does the intake of crack/cocaine and the abuse of nicotine. We are proposing that a novel approach to nutritional supplementation may be required to target the RDS role in obesity. In this regard, Genotrim, a DNA based customized nutraceutical has been designed and is currently under investigation in several clinical studies. This is the first hypothesis paper whereby this new paradigm shift in thinking about obesity is presented.

  19. Correlation of the sperm penetration assay (SPA and miscarriage after assisted reproduction: The potential use of spa as a new criterion for preimplantation genetic diagnosis

    Directory of Open Access Journals (Sweden)

    Gradistanac Jelena

    2011-01-01

    Full Text Available We analyzed 93 couples undergoing male screening with the Sperm Penetration Assay (SPA before in vitro fertilization and intracytoplasmic sperm injection (ICSI, to determine the accuracy of SPA for subsequent embryonic development, incidence of pregnancy and miscarriage rates (SAB. ICSI patients with the lowest SPA scores had significantly higher incidences of Sthan did patients in the other SPA groups. Sperm quality is higher with better SPA scores. Poor sperm quality has increased incidence of chromosomal abnormalities and is associated with early fetal loss. Couples with negative SPA are candidates for preimplantation genetic diagnosis, to reduce the incidence of SAB.

  20. Peripartum changes of the sacroiliac joints on MRI: increasing mechanical load correlating with signs of edema and inflammation kindling spondyloarthropathy in the genetically prone.

    Science.gov (United States)

    Eshed, Iris; Miloh-Raz, Hadar; Dulitzki, Mordechai; Lidar, Zvi; Aharoni, Dvora; Liberman, Boaz; Lidar, Merav

    2015-08-01

    The purpose of this study is to characterize the MRI changes of the sacroiliac joints (SIJs) during pregnancy and following labor and to correlate them with clinical symptoms. Ninety-three pelvic and hip MRIs of pregnant and ≤6 months postpartum women were retrospectively evaluated (Berlin method), for the presence of acute and structural SIJ changes. A telephone questionnaire focusing on pain characterization, co-morbidities, and clinical outcome was conducted with 52 subjects. Findings were correlated with pregnancy week/postpartum time and clinical parameters. SIJ-bone marrow edema (BME) and subchondral sclerosis were a prevalent peripartum finding (46/26 % subjects, respectively), and their frequency increased with pregnancy age. Also, BME, joint fluid, capsulitis, and enthesitis total score were correlated with pregnancy age/postpartum time (r = 0.2-0.31, P = 0.013-0.036). Significant correlation was noted between BME and subchondral sclerosis scores (r = 0.485, P pregnancy-induced low-back pain (LBP) and diffuse BME was found-spondyloarthropathy ensued. In conclusion, pregnancy and puerperium are associated with a host of acute findings in and around the SIJ, including BME, capsulitis, and enthesitis, reflecting most probably, mechanical load and hormonal changes. While the vast majority of symptoms abate within weeks to several months postpartum, 3.8 % of women go on to develop spondyloarthropathy. Diffuse SIJ BME and the presence of risk factors for spondyloarthropathy are predictive of a chronic course.

  1. Breeding maize as biogas substrate in Central Europe: II. Quantitative-genetic parameters for inbred lines and correlations with testcross performance.

    Science.gov (United States)

    Grieder, Christoph; Dhillon, Baldev S; Schipprack, Wolfgang; Melchinger, Albrecht E

    2012-04-01

    Breeding maize for use as a biogas substrate (biogas maize) has recently gained considerable importance. To optimize hybrid breeding programs, information about line per se performance (LP) of inbreds and its relation to their general combining ability (GCA) is required. The objectives of our research were to (1) estimate variance components and heritability of LP for agronomic and quality traits relevant to biogas production, (2) study correlations among traits as well as between LP and GCA, and (3) discuss implications for breeding of biogas maize. We evaluated 285 diverse dent maize inbred lines in six environments. Data were recorded on agronomic and quality traits, including dry matter yield (DMY), methane fermentation yield (MFY), and their product, methane yield (MY), as the main target trait. In agreement with observations made for GCA in a companion study, variation in MY was mainly determined by DMY. MFY, which showed moderate correlation with lignin but only weak correlation with starch, revealed only low genotypic variation. Thus, our results favor selection of genotypes with high DMY and less focus on ear proportion for biogas maize. Genotypic correlations between LP and GCA [r (g) (LP, GCA)] were highest (≥0.94) for maturity traits (days to silking, dry matter concentration) and moderate (≥0.65) for DMY and MY. Multistage selection is recommended. Selection for GCA of maturity traits, plant height, and to some extent also quality traits and DMY on the level of LP looks promising.

  2. Southeast Asian origins of five Hill Tribe populations and correlation of genetic to linguistic relationships inferred with genome-wide SNP data.

    Science.gov (United States)

    Listman, J B; Malison, R T; Sanichwankul, K; Ittiwut, C; Mutirangura, A; Gelernter, J

    2011-02-01

    In Thailand, the term Hill Tribe is used to describe populations whose members traditionally practice slash and burn agriculture and reside in the mountains. These tribes are thought to have migrated throughout Asia for up to 5,000 years, including migrations through Southern China and/or Southeast Asia. There have been continuous migrations southward from China into Thailand for approximately the past thousand years and the present geographic range of any given tribe straddles multiple political borders. As none of these populations have autochthonous scripts, written histories have until recently, been externally produced. Northern Asian, Tibetan, and Siberian origins of Hill Tribes have been proposed. All purport endogamy and have nonmutually intelligible languages. To test hypotheses regarding the geographic origins of these populations, relatedness and migrations among them and neighboring populations, and whether their genetic relationships correspond with their linguistic relationships, we analyzed 2,445 genome-wide SNP markers in 118 individuals from five Thai Hill Tribe populations (Akha, Hmong, Karen, Lahu, and Lisu), 90 individuals from majority Thai populations, and 826 individuals from Asian and Oceanean HGDP and HapMap populations using a Bayesian clustering method. Considering these results within the context of results ofrecent large-scale studies of Asian geographic genetic variation allows us to infer a shared Southeast Asian origin of these five Hill Tribe populations as well ancestry components that distinguish among them seen in successive levels of clustering. In addition, the inferred level of shared ancestry among the Hill Tribes corresponds well to relationships among their languages.

  3. Continuous within-plant variation as a source of intraspecific functional diversity: Patterns, magnitude, and genetic correlates of leaf variability in Helleborus foetidus (Ranunculaceae).

    Science.gov (United States)

    Herrera, Carlos M; Medrano, Mónica; Bazaga, Pilar

    2015-02-01

    Continuous within-plant variation in quantitative traits of reiterated, homologous structures is a component of intraspecific variation, but its contribution to functional diversity remains largely unexplored. For the perennial Helleborus foetidus, we measured functional leaf traits to quantify the contribution of within-plant variation to intraspecific functional variance and evaluate whether within-plant variability itself deserves separate consideration. Within-individual variation in eight leaf traits was quantified for 138 plants sampled from 10 widely spaced locations in the Sierra de Cazorla, southeastern Spain. An amplified fragment length polymorphism (AFLP) technique was used to look for associations between within-plant variability and specific AFLP markers. Leaflets from basal positions in ramets were longer, heavier, had greater surface area and larger stomata, and lower specific area, stomatal index, and stomatal density than those from distal positions. Continuous variation between leaves from the same ramet was the main source of population-wide variance for most traits. Within-plant variability differed among populations. Individuals differed in within-plant variability, which was largely independent of trait means and associated with genetic characteristics. Up to four AFLP markers were associated with the within-plant variability level of a given leaf trait. Subindividual variability in continuous leaf traits was independent of plant means and related to genetic features. The within-individual component generally exceeded the between-individual component of intraspecific variance. Within-plant variation may broaden the ecological breadth and enhance stability and persistence of plant populations and communities and may provide novel insights when incorporated in trait-based community ecology models. © 2015 Botanical Society of America, Inc.

  4. New Genetics

    Science.gov (United States)

    ... Home > Science Education > The New Genetics The New Genetics Living Laboratories Classroom Poster Order a Free Copy ... Piece to a Century-Old Evolutionary Puzzle Computing Genetics Model Organisms RNA Interference The New Genetics is ...

  5. Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation.

    Science.gov (United States)

    Verhaak, Christianne; de Laat, Paul; Koene, Saskia; Tibosch, Marijke; Rodenburg, Richard; de Groot, Imelda; Knoop, Hans; Janssen, Mirian; Smeitink, Jan

    2016-03-18

    Mitochondrial disorders belong to the most prevalent inherited metabolic diseases with the m.3243A > G mutation reflecting being one of the most common mutations in mitochondrial DNA. Previous studies showed little relationship between mitochondrial genetics and disease manifestation. Relationship between genotype and disease manifestation with patient reported quality of life and other patient reported outcomes is still unexplored. Seventy-two out of the 122 invited adult patients with m.3243A > G mutation completed online standardized questionnaires on quality of life, functional impairment, fatigue and mental health as assessed by the RAND-SF36, the Sickness Impact Profile (SIP), the Checklist Individual Strength (CIS) and the Hospital Anxiety and Depression scale (HADS). Data were related to clinical manifestation reflected by the Newcastle Mitochondrial Disease Adult Scale (NMDAS) score and heteroplasmy levels of the mutation in urine epithelial cells. Patients reported impaired quality of life. Sixty percent showed severe levels of fatigue, and 37% showed clinical relevant mental health problems, which was significantly more than healthy norms. These patient reported health outcomes showed negligible relationship with levels of heteroplasmy (r = life, fatigue and mental health problems, are only partly reflected by clinical assessments. In order to support patients more effectively, integration of patient reported outcomes, alongside symptoms of their disease, in clinical practice is warranted.

  6. Development of a database system and image viewer to assist in the correlation of histopathologic features and digital image analysis with clinical and molecular genetic information.

    Science.gov (United States)

    Yagi, Yukako; Riedlinger, Gregory; Xu, Xun; Nakamura, Akira; Levy, Bruce; Iafrate, A John; Mino-Kenudson, Mari; Klepeis, Veronica E

    2016-02-01

    Pathologists are required to integrate data from multiple sources when making a diagnosis. Furthermore, whole slide imaging (WSI) and next generation sequencing will escalate data size and complexity. Development of well-designed databases that can allow efficient navigation between multiple data types is necessary for both clinical and research purposes. We developed and evaluated an interactive, web-based database that integrates clinical, histologic, immunohistochemical and genetic information to aid in pathologic diagnosis and interpretation with nine lung adenocarcinoma cases. To minimize sectioning artifacts, representative blocks were serially sectioned using automated tissue sectioning (Kurabo Industries, Osaka Japan) and selected slides were stained by multiple techniques, (hematoxylin and eosin [H&E], immunohistochemistry [IHC] or fluorescence in situ hybridization [FISH]). Slides were digitized by WSI scanners. An interactive relational database was designed based on a list of proposed fields covering a variety of clinical, pathologic and molecular parameters. By focusing on the three main tasks of 1.) efficient management of textual information, 2.) effective viewing of all varieties of stained whole slide images (WSI), and 3.) assistance in evaluating WSI with computer-aided diagnosis, this database prototype shows great promise for multi-modality research and diagnosis. © 2016 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.

  7. Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings.

    Science.gov (United States)

    Peraita-Ezcurra, Milena; Martínez-García, Mónica; Ruiz-Pérez, Víctor L; Sánchez-Gutiérrez, María Eugenia; Fenollar-Cortés, María; Vélez-Monsalve, Camilo; Ramos-Corrales, Carmen; Pastor, Ignacio; Santonja, Carlos; Trujillo-Tiebas, María José

    2012-05-10

    Ellis-van Creveld syndrome is an autosomal recessive disorder mainly characterized by a disproportionate limb dwarfism, chondroectodermal dysplasia, congenital heart disease, postaxial polydactyly, and dysplastic fingernails and teeth. Only 300 cases have been published worldwide. We report a 21-week fetus with rhizomelia and polydactyly detected. Gross photographs, radiologic studies and pathological study were performed leading to the clinico-pathological suspicion of EvC. DNA from fresh fetal tissue was extracted for sequencing the EVC and EVC2 genes. p.W215X and p.R677X mutations were identified in the EVC2 gene in the fetal sample. Parental sample analysis showed the p.W215X mutation to be inherited from the mother and the p.R677X mutation from the father. The clinical information is essential not only to arrive at a correct diagnosis in fetuses with pathologic ultrasound findings, but also to offer a proper genetic counseling to the parents and their relatives.

  8. Uncoupling protein 3 genetic variants in human obesity: the c-55t promoter polymorphism is negatively correlated with body mass index in a UK Caucasian population.

    Science.gov (United States)

    Halsall, D J; Luan, J; Saker, P; Huxtable, S; Farooqi, I S; Keogh, J; Wareham, N J; O'Rahilly, S

    2001-04-01

    To investigate whether genetic variation at the UCP3 locus contributes to human obesity. Ninety-one obese children (BMI>4 standard deviations from age related mean) and 419 Caucasian adults from the Isle of Ely Study. Single strand conformation polymorphism (SSCP) analysis was used to scan the coding region of the UCP3 gene in 91 severely obese children. A common polymorphism identified in this gene (c-55t) has been shown to associate with lower UCP3 mRNA expression. Polymerase chain reaction-based forced restriction digestion was used to detect this allele in Caucasian adults. Multiple regression analysis was used to determine associations between the c-55t genotype and anthropometric, energetic and biochemical indices relevant to obesity. For the obese children, SSCP analysis and sequencing of variants were carried out. For the Isle of Ely Study, c-55t genotype and anthropometric (body mass index, waist-hip ratio, percentage body fat), energetic (dietary fat intake, physical activity index, adjusted metabolic rate, maximum oxygen consumption) and biochemical indices (pre- and post-glucose challenge plasma triglycerides, non-esterified fatty acids, insulin and glucose) were determined. A previously reported missense mutation (V102I) was detected in a single obese Afro-Carribean child. Twenty-one percent of the genes examined in the Isle of Ely study carried the c-55t promoter variant. Age-adjusted body mass index (BMI) was significantly (P=0.0037) lower in carriers of this variant. Mutations in the coding sequence of UCP3 are unlikely to be a common monogenic cause of severe human obesity. In a Caucasian population the UCP3 c-55t polymorphism is negatively associated with BMI.

  9. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham study

    Science.gov (United States)

    Seshadri, Sudha; DeStefano, Anita L; Au, Rhoda; Massaro, Joseph M; Beiser, Alexa S; Kelly-Hayes, Margaret; Kase, Carlos S; D'Agostino, Ralph B; DeCarli, Charles; Atwood, Larry D; Wolf, Philip A

    2007-01-01

    Background Brain magnetic resonance imaging (MRI) and cognitive tests can identify heritable endophenotypes associated with an increased risk of developing stroke, dementia and Alzheimer's disease (AD). We conducted a genome-wide association (GWA) and linkage analysis exploring the genetic basis of these endophenotypes in a community-based sample. Methods A total of 705 stroke- and dementia-free Framingham participants (age 62 +9 yrs, 50% male) who underwent volumetric brain MRI and cognitive testing (1999–2002) were genotyped. We used linear models adjusting for first degree relationships via generalized estimating equations (GEE) and family based association tests (FBAT) in additive models to relate qualifying single nucleotide polymorphisms (SNPs, 70,987 autosomal on Affymetrix 100K Human Gene Chip with minor allele frequency ≥ 0.10, genotypic call rate ≥ 0.80, and Hardy-Weinberg equilibrium p-value ≥ 0.001) to multivariable-adjusted residuals of 9 MRI measures including total cerebral brain (TCBV), lobar, ventricular and white matter hyperintensity (WMH) volumes, and 6 cognitive factors/tests assessing verbal and visuospatial memory, visual scanning and motor speed, reading, abstract reasoning and naming. We determined multipoint identity-by-descent utilizing 10,592 informative SNPs and 613 short tandem repeats and used variance component analyses to compute LOD scores. Results The strongest gene-phenotype association in FBAT analyses was between SORL1 (rs1131497; p = 3.2 × 10-6) and abstract reasoning, and in GEE analyses between CDH4 (rs1970546; p = 3.7 × 10-8) and TCBV. SORL1 plays a role in amyloid precursor protein processing and has been associated with the risk of AD. Among the 50 strongest associations (25 each by GEE and FBAT) were other biologically interesting genes. Polymorphisms within 28 of 163 candidate genes for stroke, AD and memory impairment were associated with the endophenotypes studied at p < 0.001. We confirmed our previously

  10. A pilot trial using lymphocytes genetically engineered with an NY-ESO-1-reactive T-cell receptor: long-term follow-up and correlates with response.

    Science.gov (United States)

    Robbins, Paul F; Kassim, Sadik H; Tran, Thai L N; Crystal, Jessica S; Morgan, Richard A; Feldman, Steven A; Yang, James C; Dudley, Mark E; Wunderlich, John R; Sherry, Richard M; Kammula, Udai S; Hughes, Marybeth S; Restifo, Nicholas P; Raffeld, Mark; Lee, Chyi-Chia R; Li, Yong F; El-Gamil, Mona; Rosenberg, Steven A

    2015-03-01

    Although adoptive cell therapy can be highly effective for the treatment of patients with melanoma, the application of this approach to the treatment of other solid tumors has been limited. The observation that the cancer germline (CG) antigen NY-ESO-1 is expressed in 70% to 80% and in approximately 25% of patients with synovial cell sarcoma and melanoma, respectively, prompted us to perform this first-in-man clinical trial using the adoptive transfer of autologous peripheral blood mononuclear cells that were retrovirally transduced with an NY-ESO-1-reactive T-cell receptor (TCR) to heavily pretreated patients bearing these metastatic cancers. HLA-*0201 patients with metastatic synovial cell sarcoma or melanoma refractory to standard treatments and whose cancers expressed NY-ESO-1 received autologous TCR-transduced T cells following a lymphodepleting preparative chemotherapy. Response rates using Response Evaluation Criteria in Solid Tumors (RECIST), as well as immunologic correlates of response, are presented in this report. Eleven of 18 patients with NY-ESO-1(+) synovial cell sarcomas (61%) and 11 of 20 patients with NY-ESO-1(+) melanomas (55%) who received autologous T cells transduced with an NY-ESO-1-reactive TCR demonstrated objective clinical responses. The estimated overall 3- and 5-year survival rates for patients with synovial cell sarcoma were 38% and 14%, respectively, whereas the corresponding estimated survival rates for patients with melanoma were both 33%. The adoptive transfer of autologous T cells transduced with a retrovirus encoding a TCR against an HLA-A*0201 restricted NY-ESO-1 epitope can be an effective therapy for some patients bearing synovial cell sarcomas and melanomas that are refractory to other treatments. ©2014 American Association for Cancer Research.

  11. Genetic and epigenetic variability in the gene for IGFBP-3 (IGFBP3): correlation with serum IGFBP-3 levels and growth in short children born small for gestational age.

    Science.gov (United States)

    van der Kaay, D C M; Hendriks, A E J; Ester, W A; Leunissen, R W J; Willemsen, R H; de Kort, S W K; Paquette, J R; Hokken-Koelega, A C S; Deal, C L

    2009-06-01

    IGF-I and IGFBP-3 play a central role in fetal and postnatal growth and levels are low in short SGA children. The -202 A/C and -185 C/T SNPs are located near elements involved in directing IGFBP3 promoter activity and expression. Changes in promoter CpG methylation status affect transcription factor binding and transcriptional activation of IGFBP3 in vitro. To assess the relationship between IGFBP3 promoter SNPs, IGFBP-3 levels, spontaneous growth and growth response to GH treatment in short prepubertal SGA children. To assess promoter methylation status in a subgroup of short SGA subjects and controls. 292 Short prepubertal SGA children, 39 short young SGA adults and 85 young adults with normal stature. Short prepubertal SGA children received GH 1mg/m(2)/day. Fasting levels of IGF-I and IGFBP-3, baseline and delta height SDS. At baseline, IGFBP-3 levels were highest in SGA children with -202 AA genotype and lower in children with 1 or 2 copies of the C-allele (P<0.001). Children with C(-202)/C(-185) haplotype, compared to children with A(-202)/C(-185) haplotype, had lower IGFBP-3 levels (P=0.003) and were shorter (P=0.03). During GH treatment, children with C(-202)/C(-185) haplotype showed a significantly greater increase in IGFBP-3 SDS and in height SDS than children with A(-202)/C(-185) haplotype, resulting in similar IGFBP-3 levels and similar height SDS after 12 months of GH treatment. CpG methylation patterns showed a trend towards more methylation of CpGs involved in transcription factor binding in short young SGA adults compared to controls. Polymorphic variation in the IGFBP3 promoter region is correlated with IGFBP-3 levels, spontaneous growth and response to GH treatment in short SGA children.

  12. Correlação genética entre perímetro escrotal e algumas características reprodutivas na raça Nelore Genetic correlation between scrotal circumference and some reproductive traits in Nellore cattle

    Directory of Open Access Journals (Sweden)

    Evandro Pereira

    2000-12-01

    Full Text Available Dados de perímetro escrotal e de características reprodutivas medidas na fêmea foram analisados com o objetivo de estimar o coeficiente de herdabilidade de cada característica e a correlação genética entre as características. Os dados foram obtidos em 11 fazendas pertencentes a uma mesma empresa, situadas nos Estados de São Paulo, Mato Grosso do Sul e Goiás. Os componentes de variância foram estimados por máxima verossimilhança restrita utilizando modelo animal bi-característica. Para as características com medidas repetidas, foram utilizados dois modelos matemáticos: um incluindo ambiente permanente da vaca e outro não. As análises nas quais o modelo não incluía o ambiente permanente da vaca mostraram as seguintes herdabilidades 0,51; 0,12; 0,17; 0,06; e 0,13 para perímetro escrotal (PE, idade ao primeiro parto (IPP, dias para o parto (DPP, intervalo de partos (IP e duração da gestação (DG, respectivamente. Nestas análises, as correlações genéticas foram: -0,22 (PE x IPP, -0,04 (PE x DPP, 0,10 (PE x IP e -0,04 (PE x DG. Quando o ambiente permanente foi incluído no modelo, as herdabilidades de DPP (0,07 e DG (0,06 foram menores, indicando que modelos sem ambiente permanente podem superestimar a variância genética aditiva dessas duas características. Os parâmetros da característica IP não foram, entretanto, alterados pela inclusão do ambiente permanente no modelo. O PE apresentou correlações genéticas favoráveis com IPP, DPP e DG, mas estas foram geralmente de baixa magnitude. Estes resultados permitem a utilização do perímetro escrotal como critério de seleção para melhorar a eficiência reprodutiva das fêmeas.Data of scrotal circumference and female reproductive traits were analyzed to estimate heritabilities and genetic correlations. Data were obtained from 11 farms by the same company, located in the States of São Paulo, Mato Grosso do Sul and Goiás. Variance components were estimated by

  13. Capacidade combinatória, divergência genética entre linhagens de milho e correlação com heterose Combining ability, genetic divergence among maize lines and correlation with heterosis

    Directory of Open Access Journals (Sweden)

    Maria Elisa Ayres Guidetti Zagatto Paterniani

    2008-01-01

    Full Text Available Objetivou-se avaliar o desempenho de híbridos simples de milho (Zea mays L., obtidos de cruzamentos dialélicos entre linhagens divergentes, estimar a capacidade de combinação das linhagens e verificar se a divergência genética entre as linhagens, obtida por marcadores moleculares, é correlacionada com a heterose dos híbridos simples no campo. Trinta e seis híbridos resultantes de um dialelo parcial foram avaliados em Campinas e em Mococa e as 12 linhagens parentais somente em Campinas, a fim de se calcular a heterose dos híbridos. O delineamento experimental empregado foi o de blocos ao acaso, com três repetições e 2 testemunhas comerciais. Avaliaram-se os caracteres: altura da planta (AP, altura da espiga (AE e massa de grãos (MG. Análises de variância foram efetuadas, sendo as médias comparadas entre si pelo teste de Tukey a 5%. A capacidade de combinação das linhagens foi obtida de acordo com o método de Geraldi e Miranda Filho. Estimaram-se as correlações entre heterose, produtividade e capacidade específica de combinação com divergência genética obtida por AFLP e SSR. Destacou-se o híbrido PM624 x IP398, e as linhagens VER266 e L105 revelaram efeitos positivos da capacidade de combinação para produtividade. As estimativas de heterose variaram de -559 a 6.320 kg ha-1. Não houve correlação entre heterose, capacidade específica de combinação e produtividade dos híbridos com a distância genética por AFLP e SSR, indicando que não é possível fazer inferências sobre o comportamento dos híbridos de milho a partir da divergência genética entre as linhagens parentais.The objectives of this research were to evaluate single cross hybrids of maize (Zea mays L. obtained from partial diallel crosses among contrasting inbred lines, to estimate the combining ability of the lines and to verify whether the genetic diversity among those lines assessed by moleculars markers is correlated with single cross hybrid

  14. The genetics of the epilepsies.

    Science.gov (United States)

    El Achkar, Christelle M; Olson, Heather E; Poduri, Annapurna; Pearl, Phillip L

    2015-07-01

    While genetic causes of epilepsy have been hypothesized from the time of Hippocrates, the advent of new genetic technologies has played a tremendous role in elucidating a growing number of specific genetic causes for the epilepsies. This progress has contributed vastly to our recognition of the epilepsies as a diverse group of disorders, the genetic mechanisms of which are heterogeneous. Genotype-phenotype correlation, however, is not always clear. Nonetheless, the developments in genetic diagnosis raise the promise of a future of personalized medicine. Multiple genetic tests are now available, but there is no one test for all possible genetic mutations, and the balance between cost and benefit must be weighed. A genetic diagnosis, however, can provide valuable information regarding comorbidities, prognosis, and even treatment, as well as allow for genetic counseling. In this review, we will discuss the genetic mechanisms of the epilepsies as well as the specifics of particular genetic epilepsy syndromes. We will include an overview of the available genetic testing methods, the application of clinical knowledge into the selection of genetic testing, genotype-phenotype correlations of epileptic disorders, and therapeutic advances as well as a discussion of the importance of genetic counseling.

  15. Foundations of genetic algorithms 1991

    CERN Document Server

    1991-01-01

    Foundations of Genetic Algorithms 1991 (FOGA 1) discusses the theoretical foundations of genetic algorithms (GA) and classifier systems.This book compiles research papers on selection and convergence, coding and representation, problem hardness, deception, classifier system design, variation and recombination, parallelization, and population divergence. Other topics include the non-uniform Walsh-schema transform; spurious correlations and premature convergence in genetic algorithms; and variable default hierarchy separation in a classifier system. The grammar-based genetic algorithm; condition

  16. Genetic algorithms

    Science.gov (United States)

    Wang, Lui; Bayer, Steven E.

    1991-01-01

    Genetic algorithms are mathematical, highly parallel, adaptive search procedures (i.e., problem solving methods) based loosely on the processes of natural genetics and Darwinian survival of the fittest. Basic genetic algorithms concepts are introduced, genetic algorithm applications are introduced, and results are presented from a project to develop a software tool that will enable the widespread use of genetic algorithm technology.

  17. Genetic Mapping

    Science.gov (United States)

    ... Fact Sheets Fact Sheets En Español: Mapeo Genético Genetic Mapping What is genetic mapping? How do researchers create ... genetic map? What are genetic markers? What is genetic mapping? Among the main goals of the Human Genome ...

  18. Genetic Counseling

    Science.gov (United States)

    Genetic counseling provides information and support to people who have, or may be at risk for, genetic disorders. A ... meets with you to discuss genetic risks. The counseling may be for yourself or a family member. ...

  19. Optical correlation

    NARCIS (Netherlands)

    Boden, J.A.

    1974-01-01

    A survey is given of the most common types of coherent optical correlators, which are classified as spatial plane correlators, frequency plane correlators and special reference correlators. Only the spatial plane correlators are dealt with rather thoroughly. Basic principles, some special features,

  20. Estimates of Heritabilities and Genetic Correlations for Growth in Haliotis diversicolor supertexta%九孔鲍生长性状的遗传力及其相关性分析

    Institute of Scientific and Technical Information of China (English)

    胡志国; 刘建勇; 蒋湘; 包秀凤

    2014-01-01

    Twelve half-sib families and thirty-six full-sib families were constructed by using methods of nest design and artificial insemination, in which each male mated three females. Thirty 8-month-old Haliotis diversicolor supertexta were measured for three growth traits including the body mass (BM), the shell length (SL), the shell width (BL). According to quantitative genetic theory, the heritability of each growth trait, and the genetic and phenotypic correlation among the traits were statistically studied by utilizing the method of variance and covariance analysis. The results showed that the heritability estimates in the narrow sense from intra-group correlation of paternal half-sib were precise and unbiased, and the heritability values for the above three traits were 0.285, 0.264 and 0.343, respectively. All of them belonged to moderate and high heritability, thus showing a high potential for selective breeding. The estimates of genetic correlation coefficients were 0.947, 0.934 and 0.902, respectively. The estimates of phenotypic correlation coefficients were 0.910, 0.791 and 0.760, respectively. The statistical significance (P<0.01) was detected by t-test among the three growth traits for both genetic and phenotypic correlation coefficients, indicating all the three traits may respond favorably to direct and indirect selection for growth.%采用平衡巢式设计方法和人工授精技术,构建九孔鲍(Haliotis diversicolor supertexta)12个半同胞家系和36个全同胞家系(每个雄鲍配3个雌鲍),分别测定每个母系生长到8月龄的全同胞个体30个后代的壳长、壳宽和体质量,应用数量遗传学的全同胞组内相关分析法,利用SPSS软件的GLM过程计算表型变量的原因方差组分,估算九孔鲍8月龄生长性状的遗传力以及性状间遗传相关和表型相关。结果表明:利用父系半同胞组内相关法估计的遗传力是九孔鲍各生长性状遗传力的无偏估计值,其

  1. Genetics of nonsyndromic obesity.

    Science.gov (United States)

    Lee, Yung Seng

    2013-12-01

    Common obesity is widely regarded as a complex, multifactorial trait influenced by the 'obesogenic' environment, sedentary behavior, and genetic susceptibility contributed by common and rare genetic variants. This review describes the recent advances in understanding the role of genetics in obesity. New susceptibility loci and genetic variants are being uncovered, but the collective effect is relatively small and could not explain most of the BMI heritability. Yet-to-be identified common and rare variants, epistasis, and heritable epigenetic changes may account for part of the 'missing heritability'. Evidence is emerging about the role of epigenetics in determining obesity susceptibility, mediating developmental plasticity, which confers obesity risk from early life experiences. Genetic prediction scores derived from selected genetic variants, and also differential DNA methylation levels and methylation scores, have been shown to correlate with measures of obesity and response to weight loss intervention. Genetic variants, which confer susceptibility to obesity-related morbidities like nonalcoholic fatty liver disease, were also discovered recently. We can expect discovery of more rare genetic variants with the advent of whole exome and genome sequencing, and also greater understanding of epigenetic mechanisms by which environment influences genetic expression and which mediate the gene-environment interaction.

  2. Model comparisons and genetic and environmental parameter ...

    African Journals Online (AJOL)

    arc

    South African Journal of Animal Science 2005, 35 (1) ... Genetic and environmental parameters were estimated for pre- and post-weaning average daily gain ..... and BWT (and medium maternal genetic correlations) indicates that these traits ...

  3. Genetic polymorphism of toll-like receptors 4 gene by polymerase chain reaction-restriction fragment length polymorphisms, polymerase chain reaction-single-strand conformational polymorphism to correlate with mastitic cows

    Directory of Open Access Journals (Sweden)

    Pooja H. Gupta

    2015-05-01

    Full Text Available Aim: An attempt has been made to study the toll-like receptors 4 (TLR4 gene polymorphism from cattle DNA to correlate with mastitis cows. Materials and Methods: In present investigation, two fragments of TLR4 gene named T4CRBR1 and T4CRBR2 of a 316 bp and 382 bp were amplified by polymerase chain reaction (PCR, respectively from Kankrej (22 and Triple cross (24 cattle. The genetic polymorphisms in the two populations were detected by a single-strand conformational polymorphism in the first locus and by digesting the fragments with restriction endonuclease Alu I in the second one. Results: Results showed that both alleles (A and B of two loci were found in all the two populations and the value of polymorphism information content indicated that these were highly polymorphic. Statistical results of χ2 test indicated that two polymorphism sites in the two populations fit with Hardy–Weinberg equilibrium (p˂0.05. Meanwhile, the effect of polymorphism of TLR4 gene on the somatic cell score (SCS indicated the cattle with allele a in T4CRBR1 showed lower SCS than that of allele B (p<0.05. Thus, the allele A might play an important role in mastitis resistance in cows. Conclusion: The relationship between the bovine mastitis trait and the polymorphism of TLR4 gene indicated that the bovine TLR4 gene may play an important role in mastitis resistance.

  4. Genetic Variability, Genotype × Environment Interaction, Correlation, and GGE Biplot Analysis for Grain Iron and Zinc Concentration and Other Agronomic Traits in RIL Population of Sorghum (Sorghum bicolor L. Moench

    Directory of Open Access Journals (Sweden)

    Rahul M. Phuke

    2017-05-01

    Full Text Available The low grain iron and zinc densities are well documented problems in food crops, affecting crop nutritional quality especially in cereals. Sorghum is a major source of energy and micronutrients for majority of population in Africa and central India. Understanding genetic variation, genotype × environment interaction and association between these traits is critical for development of improved cultivars with high iron and zinc. A total of 336 sorghum RILs (Recombinant Inbred Lines were evaluated for grain iron and zinc concentration along with other agronomic traits for 2 years at three locations. The results showed that large variability exists in RIL population for both micronutrients (Iron = 10.8 to 76.4 mg kg−1 and Zinc = 10.2 to 58.7 mg kg−1, across environments and agronomic traits. Genotype × environment interaction for both micronutrients (iron and zinc was highly significant. GGE biplots comparison for grain iron and zinc showed greater variation across environments. The results also showed that G × E was substantial for grain iron and zinc, hence wider testing needed for taking care of G × E interaction to breed micronutrient rich sorghum lines. Iron and zinc concentration showed high significant positive correlation (across environment = 0.79; p < 0.01 indicating possibility of simultaneous effective selection for both the traits. The RIL population showed good variability and high heritabilities (>0.60, in individual environments for Fe and Zn and other traits studied indicating its suitability to map QTL for iron and zinc.

  5. Genetics Home Reference: Feingold syndrome

    Science.gov (United States)

    ... for This Page Celli J, van Bokhoven H, Brunner HG. Feingold syndrome: clinical review and genetic mapping. ... RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP. Genotype-phenotype correlations in ...

  6. Genetic Disorders

    Science.gov (United States)

    ... This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from ... during your lifetime. There are three types of genetic disorders: Single-gene disorders, where a mutation affects ...

  7. 甘露聚糖结合凝集素基因多态性与毛细支气管炎的相关性研究%Correlation between the genetic polymorphism of mannose-binding lectin and bronchiolitis

    Institute of Scientific and Technical Information of China (English)

    陈秋燕; 刘一心

    2012-01-01

    目的 探讨甘露聚糖结合凝集素(MBL)与毛细支气管炎是否具有相关性.方法 用ELISA法定量检测50例病例组与50例对照组MBL的血浆水平(ng/ml),并用聚合酶链反应、DNA序列测定法分析其MBL基因第1外显子第52、54、57位密码子的碱基序列.结果 (1)甘露聚糖结合凝集素GTC等位基因频率约为0.135,未见52和57位密码子的点突变;(2)比较病例组、对照组的GTC等位基因频率、血浆水平差异均无统计学意义.结论 未发现MBL的基因多态性与毛细支气管炎的易感性有相关性.%Objective To study the distribution of the genetic polymorphism of the mannose-binding lectin (MBL) codon-52,54,57, and approach the correlation between MBL and the bronchiolitis. Methods Serum levels of MBL were measured by ELIS A method with human MBL ELISA kit. The genotypes of MBL gene codon-52, 54, 57 were detected by DNA sequences. Results No significant difference had been found in the allele frequency of GTC and MBL serum levels between bronchiolitis group and healthy group. Conclusion The polymorphism of the MBL gene does not associate with bronchiolitis.

  8. Genetic modification and genetic determinism.

    Science.gov (United States)

    Resnik, David B; Vorhaus, Daniel B

    2006-06-26

    In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions.

  9. Imaging Genetics

    Science.gov (United States)

    Munoz, Karen E.; Hyde, Luke W.; Hariri, Ahmad R.

    2009-01-01

    Imaging genetics is an experimental strategy that integrates molecular genetics and neuroimaging technology to examine biological mechanisms that mediate differences in behavior and the risks for psychiatric disorder. The basic principles in imaging genetics and the development of the field are discussed.

  10. Genetic principles.

    Science.gov (United States)

    Abuelo, D

    1987-01-01

    The author discusses the basic principles of genetics, including the classification of genetic disorders and a consideration of the rules and mechanisms of inheritance. The most common pitfalls in clinical genetic diagnosis are described, with emphasis on the problem of the negative or misleading family history.

  11. Imaging Genetics

    Science.gov (United States)

    Munoz, Karen E.; Hyde, Luke W.; Hariri, Ahmad R.

    2009-01-01

    Imaging genetics is an experimental strategy that integrates molecular genetics and neuroimaging technology to examine biological mechanisms that mediate differences in behavior and the risks for psychiatric disorder. The basic principles in imaging genetics and the development of the field are discussed.

  12. Genetic modification and genetic determinism

    OpenAIRE

    Vorhaus Daniel B; Resnik David B

    2006-01-01

    Abstract In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound....

  13. Research of the correlation of TNRC9 genetic polymorphism and breast cancer%TNRC9基因多态性与乳腺癌的相关性研究

    Institute of Scientific and Technical Information of China (English)

    李海君; 李霞

    2012-01-01

    目的 探讨中国籍汉族人群的TNRC9基因多态性与乳腺癌的相关性.方法 选取325例乳腺癌患者为研究组,另外选取325例健康人群为对照组,提取两组患者的基因组DNA,采用聚合酶链反应-连接酶检测反应法检测TNRC9 rs12443621基因的多态性,分析其与乳腺癌易感因素和临床病理的相关性.结果 TNRC9 rs12443621 AA、AG和GG基因在研究组与对照组分别占18.1%、46.5%、35.4%和18.7%、48.3%、33.0%.孕激素、雌激素状态和淋巴结转移情况与TNRC9 rs12443621基因型无相关性(χ2值分别为0.081、0.335、0.331,均P > 0.05).结论中国汉族人群中TNRC9 rs12443621基因与乳腺癌的易感因素可能无关,TNRC9 rs12443621基因不能单独作为乳腺癌的筛查的标志物.%Objective To study the correlation of genetic polymorphism TNRC9 and breast cancer in Chinese han nationality people. Methods The patients of 325 cases with breast cancer were selected as the study group, 325 healthy cases were selected as control group; extracted the genomic DNA of two groups; detected the TNRC9 rs 12443621 reaction of the gene polymorphism by the polymerase chain reaction-links enzyme detection method; analyzed the correlation between breast cancer risk factor and clinical pathologic. Results TNRC9 rsl2443621 AA, AG and GG gene in the study group and control group were 18.1%, 46.5%, 35.4% and 18.7%, 48.3%, 33.0%. There were no correlation between Progesterone, estrogen level, lymph node metastasis and TNRC9 rsl2443621 genotype (χ2 value respectively was 0.081 、0.335、0.331、all P > 0.05). Conclusion TNRC9 rsl2443621 genes of Chinese han nationality people may be irrelevant with the risk factor of breast cancer, TNRC9 rsl2443621 gene can't be the markers screening for breast cancer separately.

  14. Strategies for MCMC computation in quantitative genetics

    DEFF Research Database (Denmark)

    Waagepetersen, Rasmus; Ibánez, N.; Sorensen, Daniel

    2006-01-01

    Given observations of a trait and a pedigree for a group of animals, the basic model in quantitative genetics is a linear mixed model with genetic random effects. The correlation matrix of the genetic random effects is determined by the pedigree and is typically very highdimensional...

  15. Score Correlation

    OpenAIRE

    Fabián, Z. (Zdeněk)

    2010-01-01

    In this paper, we study a distribution-dependent correlation coefficient based on the concept of scalar score. This new measure of association of continuous random variables is compared by means of simulation experiments with the Pearson, Kendall and Spearman correlation coefficients.

  16. Genetic barcodes

    Energy Technology Data Exchange (ETDEWEB)

    Weier, Heinz -Ulrich G

    2015-08-04

    Herein are described multicolor FISH probe sets termed "genetic barcodes" targeting several cancer or disease-related loci to assess gene rearrangements and copy number changes in tumor cells. Two, three or more different fluorophores are used to detect the genetic barcode sections thus permitting unique labeling and multilocus analysis in individual cell nuclei. Gene specific barcodes can be generated and combined to provide both numerical and structural genetic information for these and other pertinent disease associated genes.

  17. MRI findings of Pelizaeus-Merzbacher disease correlated with phenotypes and genetic mutation%佩梅病的头颅MRI表现及其与临床、基因分型的关系

    Institute of Scientific and Technical Information of China (English)

    杨嵘; 谢晟; 肖江喜; 王静敏; 姜玉武

    2011-01-01

    Objective To investigate the correlation of MRI features and phenotypes and genetic mutations in Pelizaeus-Merzbacher disease.Methods Sixteen boys with clinical diagnosis of PelizaeusMerzbacher disease (PMD) were included in this study.Their ages ranged from 22 months to 9 years.They were examined by pediatric neurologists,and clinical classification was made according to the symptoms and physical signs.An experienced radiologist reviewed the cranial MRI images and analyzed the brain involvement,including pallidus globus,pyramidal tract,corpus callosum,cerebellar white matter,semiovale centrum,brain atrophy and ‘ tigroid sign’.Results There were 8 patients with classic form,7 patients with transitional form and one patient with connatal form.They all showed diffuse delayed myelination in the white matter,with involvement of pallidus globus in 13 cases,pyramidal tract in 7 cases,corpus callosum in 11 cases,cerebellar white matter in 7 cases,semiovale centrum in 12 cases.Cerebral atrophy was found in 5 patients and eerebellar atrophy was found in one patient.Five cases depicted ' tigroid sign'.In patients with PLP1 gene point mutation,pyramidal tract and cerebellar white matter involvement showed a high incidence.Cerebellar white matter lesions were relatively frequent in children with transitional form and connatal form.In contrast,‘ tigroid sign' was often related to classic form,which indicated a better myelination and outcome.Conclusion PMD patients show distinct imaging features in their brains,which may be correlated with the phenotype and genetic mutation.%目的 探讨佩梅病( PMD)患儿的头颅MRI特点,以及与临床及基因分型的关系.方法 回顾性分析16例经临床诊断为佩梅病患儿的临床和影像资料.患儿均为男性,年龄5个月至9岁8个月.由儿科神经医师对患儿的症状和体征进行检查,将其按照临床症状进行临床分型.由影像科医师对头颅MRI图像的特点进行分析,病灶的位置

  18. The Genetic Landscape of a Cell

    Science.gov (United States)

    Bellay, Jeremy; Kim, Yungil; Spear, Eric D.; Sevier, Carolyn S.; Ding, Huiming; Koh, Judice L.Y.; Toufighi, Kiana; Mostafavi, Sara; Prinz, Jeany; St. Onge, Robert P.; VanderSluis, Benjamin; Makhnevych, Taras; Vizeacoumar, Franco J.; Alizadeh, Solmaz; Bahr, Sondra; Brost, Renee L.; Chen, Yiqun; Cokol, Murat; Deshpande, Raamesh; Li, Zhijian; Lin, Zhen-Yuan; Liang, Wendy; Marback, Michaela; Paw, Jadine; San Luis, Bryan-Joseph; Shuteriqi, Ermira; Hin Yan Tong, Amy; van Dyk, Nydia; Wallace, Iain M.; Whitney, Joseph A.; Weirauch, Matthew T.; Zhong, Guoqing; Zhu, Hongwei; Houry, Walid A.; Brudno, Michael; Ragibizadeh, Sasan; Papp, Balázs; Pál, Csaba; Roth, Frederick P.; Giaever, Guri; Nislow, Corey; Troyanskaya, Olga G.; Bussey, Howard; Bader, Gary D.; Gingras, Anne-Claude; Morris, Quaid D.; Kim, Philip M.; Kaiser, Chris A.; Myers, Chad L.; Andrews, Brenda J.; Boone, Charles

    2017-01-01

    A genome-scale genetic interaction map was constructed by examining 5.4 million gene-gene pairs for synthetic genetic interactions, generating quantitative genetic interaction profiles for ~75% of all genes in the budding yeast, Saccharomyces cerevisiae. A network based on genetic interaction profiles reveals a functional map of the cell in which genes of similar biological processes cluster together in coherent subsets, and highly correlated profiles delineate specific pathways to define gene function. The global network identifies functional cross-connections between all bioprocesses, mapping a cellular wiring diagram of pleiotropy. Genetic interaction degree correlated with a number of different gene attributes, which may be informative about genetic network hubs in other organisms. We also demonstrate that extensive and unbiased mapping of the genetic landscape provides a key for interpretation of chemical-genetic interactions and drug target identification. PMID:20093466

  19. Genetic specificity of face recognition.

    Science.gov (United States)

    Shakeshaft, Nicholas G; Plomin, Robert

    2015-10-13

    Specific cognitive abilities in diverse domains are typically found to be highly heritable and substantially correlated with general cognitive ability (g), both phenotypically and genetically. Recent twin studies have found the ability to memorize and recognize faces to be an exception, being similarly heritable but phenotypically substantially uncorrelated both with g and with general object recognition. However, the genetic relationships between face recognition and other abilities (the extent to which they share a common genetic etiology) cannot be determined from phenotypic associations. In this, to our knowledge, first study of the genetic associations between face recognition and other domains, 2,000 18- and 19-year-old United Kingdom twins completed tests assessing their face recognition, object recognition, and general cognitive abilities. Results confirmed the substantial heritability of face recognition (61%), and multivariate genetic analyses found that most of this genetic influence is unique and not shared with other cognitive abilities.

  20. Genetic modification and genetic determinism

    Directory of Open Access Journals (Sweden)

    Vorhaus Daniel B

    2006-06-01

    Full Text Available Abstract In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions.

  1. Genetic Engineering

    Science.gov (United States)

    Phillips, John

    1973-01-01

    Presents a review of genetic engineering, in which the genotypes of plants and animals (including human genotypes) may be manipulated for the benefit of the human species. Discusses associated problems and solutions and provides an extensive bibliography of literature relating to genetic engineering. (JR)

  2. Genetic Counseling

    Science.gov (United States)

    ... for certain types of genetic conditions (such as Down syndrome) in the baby if mother-to-be is 35 years of age or more, or is concerned at any age about her chances of having a child with a genetic condition To learn about the ...

  3. Genetic Romanticism

    DEFF Research Database (Denmark)

    Tupasela, Aaro

    2016-01-01

    . This article compares and contrasts the work of two doctors in Finland, Elias Lönnrot and Reijo Norio, working over a century and a half apart, to examine the ways in which they have contributed to the formation of national identity and unity. The notion of genetic romanticism is introduced as a term...... to complement the notion of national romanticism that has been used to describe the ways in which nineteenth-century scholars sought to create and deploy common traditions for national-romantic purposes. Unlike national romanticism, however, strategies of genetic romanticism rely on the study of genetic...... inheritance as a way to unify populations within politically and geographically bounded areas. Thus, new genetics have contributed to the development of genetic romanticisms, whereby populations (human, plant, and animal) can be delineated and mobilized through scientific and medical practices to represent...

  4. The genetics of diabetes

    Directory of Open Access Journals (Sweden)

    Barjaktarović Nada

    2007-01-01

    Full Text Available Pathogenesis of diabetes is still a mystery for medicine, the real challenge currently being the identification of genetic factors and specific mutations that cause the disease. Heterogeneity of diabetes hampers research, only a few loci inside the human genome being correlated with predisposition for disease till now. Insulin-dependent diabetes - IDDM (T1DM develops through autoimmune destruction of pancreatic beta cells. HLA complex on the short arm of chromosome 6 (6p21, where very important genes responsible for immunological condition of the person are located, plays a very important role in genetic predisposition for T1DM. Beside this region, there are also other loci in the human genome (on chromosomes 1, 2 and 11 where a correlation with T1DM has been shown. Correlation between HLA systems and T1DM was first described for class I alleles, but recently attention has been drawn to class II loci which seem to be the cause of primary predisposition for T1DM. In the case of non-insulin-dependent diabetes - NIDDM (T2DM, the situation proved to be even more complex. Only a few genetic loci on chromosomes 11, 13 and 20 and MODY variant on chromosomes 7 and 12 have been identified by now. There are two theories about genetic basis of T2DM: the first stipulates that the genetic predisposition is determined through numerous loci, each individually responsible for a small part of predisposition; the second claims that there are a limited number of "major" genes probably functioning on a polygenic basis. Further research in this area is definitely needed to enable an accurate calculation of the risks of the disease and possible consequences during a lifetime of a person.

  5. Genetic Breakthrough

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    A new calf breeding technique shows promise for treating malignant tumors Chinese scientists have successfully bred a genetically altered cow capable of producing cancer-curing proteins for human beings.

  6. Correlator technology

    NARCIS (Netherlands)

    Schooneveld, C. van

    1968-01-01

    The paper reviews a number of designs of cross-correlation receivers for the detection of active underwater transmissions. Particular attention is given to the various structures of phase insensitive receivers, and to the problems concerned with clipping of the input signal and the reference functio

  7. Mitochondrial genetics

    OpenAIRE

    Chinnery, Patrick Francis; Hudson, Gavin

    2013-01-01

    Introduction In the last 10 years the field of mitochondrial genetics has widened, shifting the focus from rare sporadic, metabolic disease to the effects of mitochondrial DNA (mtDNA) variation in a growing spectrum of human disease. The aim of this review is to guide the reader through some key concepts regarding mitochondria before introducing both classic and emerging mitochondrial disorders. Sources of data In this article, a review of the current mitochondrial genetics literature was con...

  8. What Use Is Population Genetics?

    Science.gov (United States)

    Charlesworth, Brian

    2015-07-01

    The Genetic Society of America's Thomas Hunt Morgan Medal is awarded to an individual GSA member for lifetime achievement in the field of genetics. For over 40 years, 2015 recipient Brian Charlesworth has been a leader in both theoretical and empirical evolutionary genetics, making substantial contributions to our understanding of how evolution acts on genetic variation. Some of the areas in which Charlesworth's research has been most influential are the evolution of sex chromosomes, transposable elements, deleterious mutations, sexual reproduction, and life history. He also developed the influential theory of background selection, whereby the recurrent elimination of deleterious mutations reduces variation at linked sites, providing a general explanation for the correlation between recombination rate and genetic variation.

  9. Genetic diversity in Trichomonas vaginalis.

    Science.gov (United States)

    Meade, John C; Carlton, Jane M

    2013-09-01

    Recent advances in genetic characterisation of Trichomonas vaginalis isolates show that the extensive clinical variability in trichomoniasis and its disease sequelae are matched by significant genetic diversity in the organism itself, suggesting a connection between the genetic identity of isolates and their clinical manifestations. Indeed, a high degree of genetic heterogeneity in T vaginalis isolates has been observed using multiple genotyping techniques. A unique two-type population structure that is both local and global in distribution has been identified, and there is evidence of recombination within each group, although sexual recombination between the groups appears to be constrained. There is conflicting evidence in these studies for correlations between T vaginalis genetic identity and clinical presentation, metronidazole susceptibility, and the presence of T vaginalis virus, underscoring the need for adoption of a common standard for genotyping the parasite. Moving forward, microsatellite genotyping and multilocus sequence typing are the most robust techniques for future investigations of T vaginalis genotype-phenotype associations.

  10. Correlações genéticas e fenotípicas entre características de tipo e produção de leite em bovinos da raça Holandesa Genetic and phenotypic correlations between type traits and milk production in Holstein cattle

    Directory of Open Access Journals (Sweden)

    A.M.C. Esteves

    2004-08-01

    Full Text Available Correlações genéticas e fenotípicas entre 21 características lineares de tipo e produção de leite em até 305 dias de lactação foram estimadas pela máxima verossimilhança restrita sob modelo animal, a partir de dados da Associação de Criadores de Gado Holandês de Minas Gerais. Nas análises das características lineares, os efeitos fixos utilizados no modelo incluíram estádio da lactação, idade do animal, grupo contemporâneo de rebanho, ano e estação de classificação, e o efeito aleatório do pai da vaca. As características lineares que apresentaram maiores correlações genéticas com produção de leite foram largura do úbere posterior (0,60 e largura de garupa (0,37, indicando não haver antagonismo genético entre a seleção para essas características e a produção de leite. As correlações fenotípicas entre características lineares de tipo e produção de leite foram, em geral, menores do que as correlações genéticas correspondentes. As correlações fenotípicas entre as características lineares apresentaram-se altas dentro das seções de conformação/capacidade e de sistema mamário. Correlações genéticas entre algumas características lineares foram altas, possibilitando a exclusão de algumas delas do programa de classificação linear adotado para a raça Holandesa no Brasil.Genetic and phenotypic correlations between 21 linear type traits and 305-day milk production were estimated by restrict maximum likelihood methodology, in a multiple-trait animal model, using data from Associação de Criadores de Gado Holandês de Minas Gerais. The highest genetic correlations between milk production and rear udder width (.60, and rump width (.37, indicated no genetic antagonism between selection for these type traits and gains for milk production. In general, phenotypic correlations were lower than genetic correlations between milk production and linear type traits. Phenotypic correlations between linear

  11. Genetic GIScience

    DEFF Research Database (Denmark)

    Jacquez, Geoffrey; Sabel, Clive E; Shi, Chen

    2015-01-01

    The exposome, defined as the totality of an individual's exposures over the life course, is a seminal concept in the environmental health sciences. Although inherently geographic, the exposome as yet is unfamiliar to many geographers. This article proposes a place-based synthesis, genetic...... geographic information science (genetic GIScience), that is founded on the exposome, genome+, and behavome. It provides an improved understanding of human health in relation to biology (the genome+), environmental exposures (the exposome), and their social, societal, and behavioral determinants (the behavome......). Genetic GIScience poses three key needs: first, a mathematical foundation for emergent theory; second, process-based models that bridge biological and geographic scales; third, biologically plausible estimates of space?time disease lags. Compartmental models are a possible solution; this article develops...

  12. Correlation spectrometer

    Science.gov (United States)

    Sinclair, Michael B.; Pfeifer, Kent B.; Flemming, Jeb H.; Jones, Gary D.; Tigges, Chris P.

    2010-04-13

    A correlation spectrometer can detect a large number of gaseous compounds, or chemical species, with a species-specific mask wheel. In this mode, the spectrometer is optimized for the direct measurement of individual target compounds. Additionally, the spectrometer can measure the transmission spectrum from a given sample of gas. In this mode, infrared light is passed through a gas sample and the infrared transmission signature of the gasses present is recorded and measured using Hadamard encoding techniques. The spectrometer can detect the transmission or emission spectra in any system where multiple species are present in a generally known volume.

  13. RNA genetics

    Energy Technology Data Exchange (ETDEWEB)

    Domingo, E. (Instituto de Biologia Molecular, Facultad de Ciencias, Universidad Autonoma de Madrid, Canto Blanco, Madrid (ES)); Holland, J.J. (California Univ., San Diego, La Jolla, CA (USA). Dept. of Biology); Ahlquist, P. (Wisconsin Univ., Madison, WI (USA). Dept. of Plant Pathology)

    1988-01-01

    This book contains the proceedings on RNA genetics: RNA-directed virus replication Volume 1. Topics covered include: Replication of the poliovirus genome; Influenza viral RNA transcription and replication; and Relication of the reoviridal: Information derived from gene cloning and expression.

  14. Genetic counseling

    Science.gov (United States)

    ... MF, eds. Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice . 7th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 30. Review Date 1/25/2016 Updated by: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare ...

  15. Genetic testing for inheritable cardiac channelopathies.

    Science.gov (United States)

    Szepesváry, Eszter; Kaski, Juan Pablo

    2016-05-01

    Cardiac channelopathies are linked to an increased risk of ventricular arrhythmia and sudden death. This article reviews the clinical characteristics and genetic basis of common cardiac ion-channel diseases, highlights some genotype-phenotype correlations, and summarizes genetic testing for inheritable cardiac channelopathies.

  16. Genetics of cardiomyopathies in children

    Directory of Open Access Journals (Sweden)

    Matteo Vatta

    2011-08-01

    Full Text Available Cardiomyopathies are diseases of the heart muscle leading to heart failure and/or an increased risk of arrhythmogenic sudden cardiac death. These disorders represent a major cause of morbidity and mortality in children. In childhood forms of cardiomyopathy, genetic etiologies are frequent, but non-genetic or acquired causes, such viral infection, also play a significant role. In the last twenty years, the genetic causes of cardiomyopathies have been increasingly identified and clinical correlations are beginning to be defined. Here we present an overview of the recent advances in our understanding of the genetics of cardiomyopathies in children and what is known about the pathophysiological mechanisms underlying these gene-related forms of disease.

  17. Melanoma genetics

    DEFF Research Database (Denmark)

    Read, Jazlyn; Wadt, Karin A W; Hayward, Nicholas K

    2016-01-01

    Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence...... of heritable melanoma risk genes is an important component of disease occurrence. Susceptibility for some families is due to mutation in one of the known high penetrance melanoma predisposition genes: CDKN2A, CDK4, BAP1, POT1, ACD, TERF2IP and TERT. However, despite such mutations being implicated...... in a combined total of approximately 50% of familial melanoma cases, the underlying genetic basis is unexplained for the remainder of high-density melanoma families. Aside from the possibility of extremely rare mutations in a few additional high penetrance genes yet to be discovered, this suggests a likely...

  18. Direct selection on genetic robustness revealed in the yeast transcriptome.

    Directory of Open Access Journals (Sweden)

    Stephen R Proulx

    Full Text Available BACKGROUND: Evolutionary theory predicts that organisms should evolve the ability to produce high fitness phenotypes in the face of environmental disturbances (environmental robustness or genetic mutations (genetic robustness. While several studies have uncovered mechanisms that lead to both environmental and genetic robustness, we have yet to understand why some components of the genome are more robust than others. According to evolutionary theory, environmental and genetic robustness will have different responses to selective forces. Selection on environmental robustness for a trait is expected to be strong and related to the fitness costs of altering that trait. In contrast to environmental robustness, selection on genetic robustness for a trait is expected to be largely independent of the fitness cost of altering the trait and instead should correlate with the standing genetic variation for the trait that can potentially be buffered. Several mechanisms that provide both environmental and genetic robustness have been described, and this correlation could be explained by direct selection on both forms of robustness (direct selection hypothesis, or through selection on environmental robustness and a correlated response in genetic robustness (congruence hypothesis. METHODOLOGY/PRINCIPAL FINDINGS: Using both published and novel data on gene expression in the yeast Saccharomyces cerevisiae, we find that genetic robustness is correlated with environmental robustness across the yeast genome as predicted by the congruence hypothesis. However, we also show that environmental robustness, but not genetic robustness, is related to per-gene fitness effects. In contrast, genetic robustness is significantly correlated with network position, suggesting that genetic robustness has been under direct selection. CONCLUSIONS/SIGNIFICANCE: We observed a significant correlation between our measures of genetic and environmental robustness, in agreement with the

  19. Genetic Testing for ALS

    Science.gov (United States)

    ... Involved Donate Familial Amyotrophic Lateral Sclerosis (FALS) and Genetic Testing By Deborah Hartzfeld, MS, CGC, Certified Genetic Counselor ... in your area, please visit www.nsgc.org . Genetic Testing Genetic testing can help determine the cause of ...

  20. Genetic Science Learning Center

    Science.gov (United States)

    ... Mouse Party on Learn.Genetics.utah.edu Students doing the Tree of Genetic Traits activity Learn.Genetics is one of the most widely used science education websites in the world The Community Genetics ...

  1. Genetics and intelligence differences: five special findings.

    Science.gov (United States)

    Plomin, R; Deary, I J

    2015-02-01

    Intelligence is a core construct in differential psychology and behavioural genetics, and should be so in cognitive neuroscience. It is one of the best predictors of important life outcomes such as education, occupation, mental and physical health and illness, and mortality. Intelligence is one of the most heritable behavioural traits. Here, we highlight five genetic findings that are special to intelligence differences and that have important implications for its genetic architecture and for gene-hunting expeditions. (i) The heritability of intelligence increases from about 20% in infancy to perhaps 80% in later adulthood. (ii) Intelligence captures genetic effects on diverse cognitive and learning abilities, which correlate phenotypically about 0.30 on average but correlate genetically about 0.60 or higher. (iii) Assortative mating is greater for intelligence (spouse correlations ~0.40) than for other behavioural traits such as personality and psychopathology (~0.10) or physical traits such as height and weight (~0.20). Assortative mating pumps additive genetic variance into the population every generation, contributing to the high narrow heritability (additive genetic variance) of intelligence. (iv) Unlike psychiatric disorders, intelligence is normally distributed with a positive end of exceptional performance that is a model for 'positive genetics'. (v) Intelligence is associated with education and social class and broadens the causal perspectives on how these three inter-correlated variables contribute to social mobility, and health, illness and mortality differences. These five findings arose primarily from twin studies. They are being confirmed by the first new quantitative genetic technique in a century-Genome-wide Complex Trait Analysis (GCTA)-which estimates genetic influence using genome-wide genotypes in large samples of unrelated individuals. Comparing GCTA results to the results of twin studies reveals important insights into the genetic architecture

  2. Genetic correlation between traits in the ESALQ-PB1 maize population divergently selected for tassel size and ear height Correlação genética entre caracteres na população de milho ESALQ-PB1 após seleção divergente para tamanho do pendão e altura da espiga

    Directory of Open Access Journals (Sweden)

    Austeclínio Lopes Farias Neto

    2001-03-01

    Full Text Available Full-sib and selfed (S1 progenies were obtained from sub-populations of ESALQ-PB1, divergently selected for tassel size (T+ and T- and ear height (E+ and E-, and used for estimating genetic and phenotypic correlation coefficients between traits. The analyzed traits were: EW- total ear weight (g/plant, PH- plant height (cm, EH- ear height (cm, TB- tassel branch number and TL- tassel length. The highest genetic (rG and phenotypic (rF correlation was observed for the combination PH x EH, as expected, with average of 0.800 and 0.778, respectively over sub-populations and locations. It is apparent that divergent selection for tassel size did not affect greatly the correlation between PH and EH in the full sib progenies, but in the inbred progenies the correlation was smaller in the sub-population selected for larger tassels. Genetic correlation between PH and EH with tassel traits was always positive but ranged from 0.020 to 0.668 in Piracicaba and from 0.06 to 0.309 in Rio Verde. Genetic correlation between PH and EH with yield (EW also was positive in the range of 0.087 to 0.503. EH showed higher correlation with EW in relation to PH x EW and differences were larger in the sub-populations divergently selected for ear height. Correlation between tassel traits with other traits was positive in most of instances and a lack of consistency was observed among sub-populations. Generally the coefficients of genetic and phenotypic correlation differed substantially from the estimates in the base population ESALQ-PB1 before divergent selection for tassel size and ear placement. Divergent selection affected the correlation between traits under unpredicted and varying magnitudes.Progênies de irmãos germanos e de autofecundação (S1 foram obtidas de sub-populações de ESALQ-PB1 após seleção divergente para tamanho do pendão (T+ e T- e altura da espiga (E+ e E- e utilizadas para estimar os coeficientes de correlação genética e fenotípica entre

  3. Genetics of inherited cardiomyopathy

    Science.gov (United States)

    Jacoby, Daniel; McKenna, William J.

    2012-01-01

    During the past two decades, numerous disease-causing genes for different cardiomyopathies have been identified. These discoveries have led to better understanding of disease pathogenesis and initial steps in the application of mutation analysis in the evaluation of affected individuals and their family members. As knowledge of the genetic abnormalities, and insight into cellular and organ biology has grown, so has appreciation of the level of complexity of interaction between genotype and phenotype across disease states. What were initially thought to be one-to-one gene-disease correlates have turned out to display important relational plasticity dependent in large part on the genetic and environmental backgrounds into which the genes of interest express. The current state of knowledge with regard to genetics of cardiomyopathy represents a starting point to address the biology of disease, but is not yet developed sufficiently to supplant clinically based classification systems or, in most cases, to guide therapy to any significant extent. Future work will of necessity be directed towards elucidation of the biological mechanisms of both rare and common gene variants and environmental determinants of plasticity in the genotype–phenotype relationship with the ultimate goal of furthering our ability to identify, diagnose, risk stratify, and treat this group of disorders which cause heart failure and sudden death in the young. PMID:21810862

  4. Estimativas de correlações genéticas entre escores visuais e características de carcaça medidas por ultrassonografia em bovinos Nelore utilizando modelos bayesianos linear-limiar Genetic correlation estimates between visual scores and carcass traits measured by ultrasound in Nelore cattle using linear-threshold bayesian models

    Directory of Open Access Journals (Sweden)

    Carina Ubirajara de Faria

    2009-11-01

    Full Text Available O objetivo neste estudo foi estimar as correlações genéticas entre escores visuais e características de carcaça medidas por ultrassonografia em bovinos da raça Nelore utilizando a estatística bayesiana por meio da Amostragem de Gibbs, sob modelo animal linear-limiar. Foram estudadas as características categóricas morfológicas de musculosidade, estrutura física, conformação e sacro, avaliadas aos 15 e 22 meses de idade. Para as características de carcaça, foram avaliadas as características área de olho-de-lombo, espessura de gordura subcutânea, espessura de gordura subcutânea na garupa e altura na garupa. Os escores visuais devem ser empregados como critérios de seleção para aumentar o progresso genético para a característica área de olhode-lombo e, consequentemente, melhorar o rendimento de carcaça. As estimativas de correlação genética obtidas para musculosidade com espessura de gordura subcutânea e espessura de gordura subcutânea na garupa indicaram que a seleção para musculosidade pode levar a animais com melhor acabamento de carcaça. A seleção para a estrutura física e conformação aos 15 e 22 meses de idade pode promover resposta correlacionada para o aumento da altura na garupa.The objective of this study was to estimate the genetic correlations between visual scores and the carcass traits measured by ultrasound, in Nellore breed cattle, using the bayesian statistics by Gibbs Sampling, in the linear-threshold model. The morphological categorical traits of musculature, physical structure, conformation and sacrum were studied, evaluated at 15 and 22 months. The carcass traits of the longissimus muscle area, backfat thickness, rump fat thickness and hip height were evaluated. Visual scores should be used as selection criterion to increase genetic progress for the longissumus muscle area. The estimates of genetic correlations obtained between musculature and backfat thickness and rump fat thickness

  5. Correlation networks visualization

    Directory of Open Access Journals (Sweden)

    Nicholas J. Provart

    2012-10-01

    Full Text Available New, in silico ways of generating hypotheses based on large data sets have emerged in the past decade. These data sets have been used to investigate different aspects of plant biology, especially at the level of transcriptome, from tissue-specific expression patterns to patterns in as little as a few cells. Such publicly-available data are a boon to researchers for hypothesis generation by providing a guide for experimental work such as phenotyping or genetic analysis. More advanced computational methods can leverage these data via gene coexpression analysis, the results of which can be visualized and refined using network analysis. Other kinds of networks of e.g. protein-protein interactions, can also be used to inform biology. These networks can be visualized and analyzed with additional information on gene expression levels, subcellular localization, etc., or with other emerging kinds information. Finally, cross-level correlation is an area that will become increasingly important. Visualizing these cross-level correlations will require new data visualization tools.

  6. [Genetic amniocentesis].

    Science.gov (United States)

    Violante Díaz, M; Carrillo Hinojosa, M; García Necoechea, M P; Escobedo Aguirre, F; Lowenberg Favela, E; Ahued Ahued, J R

    1989-04-01

    179 patients were studied by genetic amniocentesis (GA) in sessions of 3 punctures each. This was done in order to follow a prenatal diagnosis (PD) program and study amniotic fluid at the Hospital Regional 20 de Novembre (ISSSTE) between May 1983 and December 1987. The parameters taken were: age, indications, number of sessions, number punctures, echosonographic studies for gestational age, placental insertion, punction site, amniotic fluid volume, blood contamination, failures and handling of the patient. A low incidence of abortion is reported. We don't have cases of dripping of amniotic fluid or transvaginal haemorrhage. Multiple insertion of the needle and placental or vessel lesions of the cord, as causes of a fetal death are still argued if we have in mind avoiding chances; we didn't have those complications in our cases. The percent is low if there are not previous spontaneous abortions. 79% of the amniotic fluid samples were sent between the 15th and 17th weeks of pregnancy. For alpha fetus protein determination 12 and for biochemical studies 1, specially for beta-galactosidase level. This was done at the Biomedical Investigation Institute of the National Autonomous University of Mexico (in parents with generalized gangliosidosis GM1). Even though results were good, the technique has still risks and complications. An ultrasonic study of the procedures made by physicians with trustable experience is needed. Our country has the need to create more Prenatal Genetic Diagnosis Centers.

  7. 2型糖尿病与行为和遗传因素的相关性研究%The correlation study between behavioral and genetic factors and type 2 diabetes mellitus

    Institute of Scientific and Technical Information of China (English)

    丁守华; 刘东; 杨志寅; 卜志强; 孔令斌

    2008-01-01

    Objective To study the relationship between behavioral,genetic factors and type 2 diabetes mellitus,and provide rational evidence for prevention and intervention of type 2 diabetes mellitus.Methods Case control study is adopted in the research,152 cases with type 2 diabetes mellitus and 120 controls were brought into the study,collecting information of their life styles and behavior,tracing information of their first degree relatives;single and multi-factor logistic regression are applied to analyze the effect of the studying factors on type 2 diabetes mellitus.Falconer formula is adopted to estimate heritability.Results According to multi-factor logistic regression,the factors associated with type 2 diabetes mellitus include:the family history of diabetes mellitus,absorbing too much fat,enjoying sweetmeats,take exercises,eating green flesh vegetables and waist haunch ratio(WHR)et al.The cumulative incidence rate of first degree relatives in eases is 7.55%,which is higher than that of controls (0.73%),the difference between the two is distinctly(x2=66.07,P<0.01).By Falconer formula,the heritabilitv of type 2 diabetes mellitus is 72.2%.which indicate that heredity account for a big proportion in the occurrence of type 2 diabetes mellitus.Conclusion Type 2 diabetes mellitus is caused by the combining effects of genetic and behavior risky factors.%目的 研究行为、遗传因素与2型糖尿病(type 2 diabetes mellitus,T2DM)的关系,为T2DM患者制订综合预防和干预措施提供科学依据.方法 采用病例对照研究方法对山东省梁山县T2DM患者(152例)及对照组(120例)核心家系进行调查,收集病例及对照组成员生活行为及一级亲属家族信息,应用单因素和多因素非条件logistic回归分析研究各因素在疾病发生中的作用,并采用Falconer法估算遗传度.结果 多因素非条件logistic回归分析表明糖尿病家族史、高脂饮食、高糖饮食、体育锻炼、多食绿色蔬菜

  8. Genetic constraints and sexual dimorphism in immune defense

    DEFF Research Database (Denmark)

    Rolff, Jens; Armitage, Sophie Alice Octavia; Coltman, David W.

    2005-01-01

    : a common genetic architecture constrains the response to selection on a trait subjected to sexually asymmetric selection pressures. Here we show that males and females of the mealworm beetle Tenebrio molitor differ in the quantitative genetic architecture of four traits related to immune defense...... and condition. Moreover, high genetic correlations between the sexes constitute a genetic constraint to the evolution of sexual dimorphism in immune defense. Our results suggest a general mechanism by which sexual conflict can promote evolutionary stasis. We furthermore show negative genetic correlations...

  9. Genetic variation in dieback resistance

    DEFF Research Database (Denmark)

    Lobo, Albin; Hansen, Jon Kehlet; McKinney, Lea Vig

    2014-01-01

    -eastern Zealand, Denmark, and confirmed the presence of substantial genetic variation in ash dieback susceptibility. The average crown damage increased in the trial from 61% in 2009 to 66% in 2012 and 72% in 2014, while the estimated heritability was 0.42 in both 2009 and 2012 but increased to 0.53 in 2014....... Genetic correlation between assessments was 0.88 between 2009 and 2012 and 0.91 between 2009 and 2014, suggesting fairly good possibilities for early selection of superior genotypes in the presence of high infection levels in the trial. The level of crown damage had strong negative effect on growth...

  10. Common Genetic Components of Obesity Traits and Serum Leptin

    DEFF Research Database (Denmark)

    Hasselbalch, Ann L; Benyamin, Beben; Visscher, Peter M

    2008-01-01

    , waist and hip, and skin-fold thickness, body composition assessment by bioimpedance (fat mass and fat-free mass), and measurement of serum leptin level. Bivariate variance component analyses estimated the additive genetic correlations between these measurements. The genetic correlations between...

  11. Correlações genéticas e análise de trilha para componentes da produção de frutos de açaizeiro Genetic correlations and path analysis for yield fruits components of assai palm

    Directory of Open Access Journals (Sweden)

    Davi Henrique Lima Teixeira

    2012-12-01

    Full Text Available O conhecimento das correlações genéticas entre os principais caracteres utilizados no melhoramento de plantas serve de base para delinear estratégias otimizadas de seleção. O procedimento da análise de trilha permite refinar essas correlações, desdobrando-as em efeitos diretos e indiretos sobre o caráter principal. O objetivo deste trabalho foi desdobrar as correlações genéticas de caracteres relativos ao cacho e à produção de frutos em progênies de meios-irmãos de açaizeiro em efeitos diretos e indiretos sobre a produção total de frutos, a fim de verificar a melhor estratégia de seleção para obtenção de progênies mais produtivas. Foi instalado um experimento com 25 progênies de meios-irmãos em blocos ao acaso, com quatro repetições e parcela de cinco plantas. Os dados dos anos agrícolas de 2005, 2006 e 2007 foram analisados pelo enfoque de modelos mistos, e as correlações genéticas, submetidas à análise de trilha. A produção de frutos correlacionou-se ao número de meses em produção, número total de cacho, peso de frutos por cacho e ao número de ráquilas por cacho. No entanto, pela análise de trilha, apenas o peso de frutos por cacho, o número de cachos e o número de ráquilas por cacho mostram-se como os principais determinantes na variação da produção de frutos de açaizeiro. Dentre esses caracteres, o número de ráquilas por cacho é o menos influenciado pelo ambiente e, portanto, mais promissor para obter ganhos indiretos na produção total de frutos.The knowledge of the genetics correlations among the main characters used in plant breeding helps to elaborate optimized strategies of selection. The procedure of path analysis allows refining these correlations and partitioning them into direct and indirect effects on a main variable. The objective of this study was to partition the genetic correlations of traits concerning to bunch and yield of half-sib progenies into direct and indirect

  12. Genetic aberration in primary hepatocellular carcinoma:correlation between p53 gene mutation and loss—of—heterozygosity on chromosome 16q21—q23 and 9p21—p23

    Institute of Scientific and Technical Information of China (English)

    WANGGANG; CHANGHUIHUANG; 等

    2000-01-01

    To elucidate the molecular pathology underlying the development of hepatocellular carcinoma (HCC),we used 41 highly polymorphic microsatellite markers to examine 55 HCC and corresponding non-tumor liver tissues on chromosome 9,16 and 17.Loss-of-heterozygosity(LOH) is observed with high frequency on chromosomal region 17p13(36k/55,65%),9q21-p23(28/55,51%),16q21-23(27/55,49%) in tumors.Meanwhile,microsatellite instability is rarely found in these microsatellite loci.Direct sequencing was performed to detect the tentative mutation of tumor wuppressor genes in these regions:p53,MTS1/p16,and CDH1/E-cadherin.Wihin exon 5-9 of p53 gene,14 out of 55 HCC specimens(24%) have somatic mutations,and nucleotide deletion of this gene is reported in HCC for the first time.Mutation in MTS1/p16 is found only in one tumor case.We do not find mutations in CDH1/E-cadherin.Furthermore,a statistically significant correlation is present between p53 gene mutation and loss of chromosome region 16q21-q23 and 9p21-p23,which indicates that synergism between p53 inactivation and deletion of 16q21-q23 and 9p21-p23 may play a role in the pathogenesis of HCC.

  13. A genetic engineering approach to genetic algorithms.

    Science.gov (United States)

    Gero, J S; Kazakov, V

    2001-01-01

    We present an extension to the standard genetic algorithm (GA), which is based on concepts of genetic engineering. The motivation is to discover useful and harmful genetic materials and then execute an evolutionary process in such a way that the population becomes increasingly composed of useful genetic material and increasingly free of the harmful genetic material. Compared to the standard GA, it provides some computational advantages as well as a tool for automatic generation of hierarchical genetic representations specifically tailored to suit certain classes of problems.

  14. Latent spatial models and sampling design for landscape genetics

    Science.gov (United States)

    Hanks, Ephraim M.; Hooten, Mevin B.; Knick, Steven T.; Oyler-McCance, Sara J.; Fike, Jennifer A.; Cross, Todd B.; Schwartz, Michael K.

    2016-01-01

    We propose a spatially-explicit approach for modeling genetic variation across space and illustrate how this approach can be used to optimize spatial prediction and sampling design for landscape genetic data. We propose a multinomial data model for categorical microsatellite allele data commonly used in landscape genetic studies, and introduce a latent spatial random effect to allow for spatial correlation between genetic observations. We illustrate how modern dimension reduction approaches to spatial statistics can allow for efficient computation in landscape genetic statistical models covering large spatial domains. We apply our approach to propose a retrospective spatial sampling design for greater sage-grouse (Centrocercus urophasianus) population genetics in the western United States.

  15. Herdabilidade e correlação genética entre perímetro escrotal, libido e características seminais de touros Nelore Heritability and genetic correlation between scrotal circumference, libido and seminal traits in Nellore bulls

    Directory of Open Access Journals (Sweden)

    L.C. Sarreiro

    2002-12-01

    Full Text Available Dados de 273 touros Nelore nascidos de 1992 a 1998 e com idade média de 31 meses foram utilizados para estimar as herdabilidades do perímetro escrotal (PE, libido (Lib, motilidade (mot, vigor (vig, concentração (con e taxa de anormalidade seminal (ta e as correlações genéticas entre essas características. Com o uso do método da máxima verosimilhança restrita as estimativas de herdabilidade e respectivos erros-padrão foram 0,38±0,20 para PE, 0,33±0,20 e 0,31±0,20 para Lib com idade ou peso corporal no modelo, respectivamente, 0,01±0,10 para mot, 0,03±0,30 para vig, 0,00±0,50 para coN e 0,07±0,13 para ta. As correlações genéticas entre PE e Lib foram 0,78 e 0,76, respectivamente, considerando-se ou não o peso corporal no modelo. Correlações genéticas entre PE e as características con, mot, vig e ta foram 0,99, 1,00, -0,14 e 0,99, respectivamente. Pode-se esperar resposta à seleção direta para PE e Lib e a seleção para uma das características resultaria em seleção para a outra. As baixas estimativas de herdabilidade para as características seminais indicam pequeno componente genético aditivo.Data from 273 Nellore bulls borned from 1992 to 1998 and with average age of 31 month were used to estimate by restricted maximum likelihood procedure the heritability for scrotal circumference (SC, libido (LIB, sperm motility (MOT, vigor (VIG, concentration (CON and porcentage of defects (PD and the genetic correlations between these traits. The heritabilities estimates and standard errors were 0.38±0.20 for SC, 0.33±0.20 and 0.31±0.20 for LIB, when age and body weight were included in the model, 0.01±0.10 for MOT, 0.03±0.30 for vig, 0.00±.0.50 for coN, and 0.07±0.13 for PD. Otherwise, genetic correlations between SC and LIB were 0.78 and 0.76, respectively, including or not including body weight in the model. Genetic correlations between SC and the traits CON, MOT, VIG and PD were 0.99, 1.00, -0.14 and 0

  16. Learning Bayesian Networks from Correlated Data

    Science.gov (United States)

    Bae, Harold; Monti, Stefano; Montano, Monty; Steinberg, Martin H.; Perls, Thomas T.; Sebastiani, Paola

    2016-05-01

    Bayesian networks are probabilistic models that represent complex distributions in a modular way and have become very popular in many fields. There are many methods to build Bayesian networks from a random sample of independent and identically distributed observations. However, many observational studies are designed using some form of clustered sampling that introduces correlations between observations within the same cluster and ignoring this correlation typically inflates the rate of false positive associations. We describe a novel parameterization of Bayesian networks that uses random effects to model the correlation within sample units and can be used for structure and parameter learning from correlated data without inflating the Type I error rate. We compare different learning metrics using simulations and illustrate the method in two real examples: an analysis of genetic and non-genetic factors associated with human longevity from a family-based study, and an example of risk factors for complications of sickle cell anemia from a longitudinal study with repeated measures.

  17. Learning Bayesian Networks from Correlated Data.

    Science.gov (United States)

    Bae, Harold; Monti, Stefano; Montano, Monty; Steinberg, Martin H; Perls, Thomas T; Sebastiani, Paola

    2016-05-05

    Bayesian networks are probabilistic models that represent complex distributions in a modular way and have become very popular in many fields. There are many methods to build Bayesian networks from a random sample of independent and identically distributed observations. However, many observational studies are designed using some form of clustered sampling that introduces correlations between observations within the same cluster and ignoring this correlation typically inflates the rate of false positive associations. We describe a novel parameterization of Bayesian networks that uses random effects to model the correlation within sample units and can be used for structure and parameter learning from correlated data without inflating the Type I error rate. We compare different learning metrics using simulations and illustrate the method in two real examples: an analysis of genetic and non-genetic factors associated with human longevity from a family-based study, and an example of risk factors for complications of sickle cell anemia from a longitudinal study with repeated measures.

  18. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder

    NARCIS (Netherlands)

    Fu, R.; Ceballos-Picot, I.; Torres, R.J.; Larovere, L.E.; Yamada, Y.; Nguyen, K.V.; Hegde, M.; Visser, J.E.; Schretlen, D.J.; Nyhan, W.L.; Puig, J.G.; O'Neill, P.J.; Jinnah, H.A.

    2014-01-01

    Establishing meaningful relationships between genetic variations and clinical disease is a fundamental goal for all human genetic disorders. However, these genotype-phenotype correlations remain incompletely characterized and sometimes conflicting for many diseases. Lesch-Nyhan disease is an

  19. Correlações genéticas e fenotípicas entre características reprodutivas e produtivas de touros da raça Nelore Genetic and phenotypic correlations among reproductive and productive traits of Nelore bulls

    Directory of Open Access Journals (Sweden)

    Juliano Cesar Dias

    2008-01-01

    Full Text Available O objetivo deste trabalho foi estimar correlações genéticas e fenotípicas de características reprodutivas e ponderais em 579 touros Nelore, em criação extensiva. As características reprodutivas estudadas foram: circunferência escrotal, consistência, volume e forma testiculares, comprimento dos testículos esquerdo e direito, largura dos testículos esquerdo e direito, motilidade e vigor espermáticos, defeitos espermáticos maiores, menores e totais e classificação andrológica por pontos. As características foram analisadas pelo método de máxima verossimilhança restrita, com algoritmos livres de derivadas, sob modelo animal, com inclusão da matriz de numeradores dos coeficientes de parentesco entre os animais e seus ascendentes. As correlações genéticas entre circunferência escrotal e as características peso corporal, volume testicular, motilidade espermática, vigor espermático, defeitos espermáticos menores, defeitos espermáticos totais e classificação andrológica por pontos foram, respectivamente, 0,72, 0,99, 0,72, 0,60, -0,67, -0,12 e 0,64. As maiores correlações fenotípicas encontradas entre peso e circunferência escrotal, características físicas e morfológicas do sêmen, quando comparadas às correlações entre idade e as mesmas características, são indicativas de que o peso tem maior influência na condição reprodutiva. As correlações genéticas entre classificação andrológica por pontos e as características: peso, circunferência escrotal, volume testicular, defeitos espermáticos maiores e defeitos espermáticos totais foram, respectivamente, 0,19, 0,64, 0,71, -0,47 e -0,58.The aim of this work was to estimate genetic and phenotypic correlations for sexual reproductive and productive traits using a Multiple Trait Derivative-Free Restricted Maximum Likelihood (MTDFREML methodology in 579 Nelore bulls, raised under pasture. The reproductive traits analyzed were scrotal circumference

  20. Molecular Genetics and Genetic Testing in Myotonic Dystrophy Type 1

    Directory of Open Access Journals (Sweden)

    Dušanka Savić Pavićević

    2013-01-01

    Full Text Available Myotonic dystrophy type 1 (DM1 is the most common adult onset muscular dystrophy, presenting as a multisystemic disorder with extremely variable clinical manifestation, from asymptomatic adults to severely affected neonates. A striking anticipation and parental-gender effect upon transmission are distinguishing genetic features in DM1 pedigrees. It is an autosomal dominant hereditary disease associated with an unstable expansion of CTG repeats in the 3′-UTR of the DMPK gene, with the number of repeats ranging from 50 to several thousand. The number of CTG repeats broadly correlates with both the age-at-onset and overall severity of the disease. Expanded DM1 alleles are characterized by a remarkable expansion-biased and gender-specific germline instability, and tissue-specific, expansion-biased, age-dependent, and individual-specific somatic instability. Mutational dynamics in male and female germline account for observed anticipation and parental-gender effect in DM1 pedigrees, while mutational dynamics in somatic tissues contribute toward the tissue-specificity and progressive nature of the disease. Genetic test is routinely used in diagnostic procedure for DM1 for symptomatic, asymptomatic, and prenatal testing, accompanied with appropriate genetic counseling and, as recommended, without predictive information about the disease course. We review molecular genetics of DM1 with focus on those issues important for genetic testing and counseling.

  1. Knowledge, Attitudes, and Practice Regarding Genetic Testing and Genetic Counselors in Jordan: A Population-Based Survey.

    Science.gov (United States)

    Ahram, Mamoun; Soubani, Majd; Abu Salem, Lana; Saker, Haneen; Ahmad, Muayyad

    2015-12-01

    Genetic testing has a potential in the prevention of genetic diseases, particularly in communities with high rates of consanguineous marriage. Therefore, knowledge, practice, and attitudes of the public in Jordan regarding genetic testing were investigated. Individuals (N = 3,196) were questioned about the concepts of genetic testing and genetic counselors, if they underwent any genetic tests, the type of test, the method of consenting to the test, as well as their level of satisfaction with the privacy of the genetic testing service. The likelihood of pursuing predictive genetic testing for cancer was also investigated. Although almost 70 % of respondents knew the term "genetic testing," only 18 % had undergone genetic testing, primarily the mandatory premarital test. In addition, there was a lack of general knowledge about genetic counselors. Many of those who had genetic testing (45 %) indicated they did not go through a consent process, and a lack of consent was significantly related to dissatisfaction with the privacy of the service. Approximately 55 % of respondents indicated they would potentially pursue predictive genetic testing for cancer. Going for routine health checkups was not significantly correlated with either actual or potential uptake of genetic testing, suggesting health care providers do not play an influential role in patients' testing decisions. Our results show a gap between the knowledge and uptake of genetic testing and may help to guide the design of effective strategies to initiate successful genetic counseling and testing services.

  2. Genetics and Rheumatic Disease

    Science.gov (United States)

    ... Well with Rheumatic Disease Genetics and Rheumatic Disease Genetics and Rheumatic Disease Fast Facts Studying twins has ... 70%, and for non-identical pairs, even lower. Genetics and ankylosing spondylitis Each rheumatic disease has its ...

  3. Applying the New Genetics

    Science.gov (United States)

    Sorenson, James

    1976-01-01

    New developments in the prediction and treatment of genetic diseases are presented. Genetic counseling and the role of the counselor, and rights of individuals to reproduce versus societal impact of genetic disorders, are discussed. (RW)

  4. Genetics and Rheumatic Disease

    Science.gov (United States)

    ... Well with Rheumatic Disease Genetics and Rheumatic Disease Genetics and Rheumatic Disease Fast Facts Studying twins has ... 70%, and for non-identical pairs, even lower. Genetics and ankylosing spondylitis Each rheumatic disease has its ...

  5. 糙龙胆生长关键期主要性状的遗传参数及相关性研究%Study on Correlation Between Genetic Parameters of Main Traites Expressed in the Key Growing Stage of Gentiana scabra Bunge.

    Institute of Scientific and Technical Information of China (English)

    魏云洁; 王志清; 孔祥义; 赵亚会

    2011-01-01

    The correlation between traits and genetic parameters expressed in three years old gentiana scabra in the key growing stage was analysied in this experiment The results showed that coefficient of variation of stem diameter, tille mumber, branches and bud numbers was bigger in the bud stage. Especially, there was a significent correlation between the bud numbers and branches. These results demonstrate that there was significent difference between the sigle plants. That is to say, these characters could be used as seleccn'on standard in breeding. In stuge of root weight gain, the coefficient of variation of stem diameter, tille rnumber, hair root number and hair root weight was bigger,which was about 50%. There were extremely significant correlation or significant correlation between hair root weight and stem diameter, tille mumber, hair root number,hair root diameter which were four characters correlated with high yeild. Thus, when we selcted the characters in breeding process, we should act in bud stage and root weight gain.%本试验对3年生糙龙胆生长关键期主要性状的遗传参数及性状间相关性进行了分析.结果表明,孕蕾期以茎粗、分蘖数、分枝数和花蕾数性状变异系数较大,在品种选育中选择潜力较大.其中,与种子产量性状和花蕾数呈极显著相关的分枝数可作为种子高产目标的相关性状.根增重期以茎粗、分蘖数、须根数、根重4个性状变异系数较大,变异系数均在50%左右;根重与茎粗、须根数、分蘖数、根粗呈极显著或显著相关,这4个性状可作为糙龙胆高产目标的相关性状.糙龙胆选择育种的最佳时期为孕蕾期和根增重期.

  6. An analysis of the metabolic theory of the origin of the genetic code

    Science.gov (United States)

    Amirnovin, R.; Bada, J. L. (Principal Investigator)

    1997-01-01

    A computer program was used to test Wong's coevolution theory of the genetic code. The codon correlations between the codons of biosynthetically related amino acids in the universal genetic code and in randomly generated genetic codes were compared. It was determined that many codon correlations are also present within random genetic codes and that among the random codes there are always several which have many more correlations than that found in the universal code. Although the number of correlations depends on the choice of biosynthetically related amino acids, the probability of choosing a random genetic code with the same or greater number of codon correlations as the universal genetic code was found to vary from 0.1% to 34% (with respect to a fairly complete listing of related amino acids). Thus, Wong's theory that the genetic code arose by coevolution with the biosynthetic pathways of amino acids, based on codon correlations between biosynthetically related amino acids, is statistical in nature.

  7. Estimativas de parâmetros genéticos e de ganhos direto e indireto à seleção para características reprodutivas e de crescimento em um rebanho da raça Canchim Estimates of genetic parameters and of direct and correlated responses to selection for growth and reproductive traits in a Canchim cattle herd

    Directory of Open Access Journals (Sweden)

    Viviane Martha de Castro-Pereira

    2007-08-01

    Full Text Available Neste trabalho objetivou-se estimar a herdabilidade do perímetro escrotal aos 12 meses de idade (PE12 e da idade (IPP e do peso ao primeiro parto (PPP e suas correlações genéticas com os pesos ao nascimento (PN, à desmama (P240, ao ano (P365 e ao sobreano (P550, os ganhos de peso do nascimento à desmama (GND e do nascimento ao sobreano (GN18 e o número de dias para ganhar 175 kg do nascimento à desmama (D175 e para ganhar 450 kg do nascimento ao abate (D450 em um rebanho da raça Canchim. Utilizaram-se o método da máxima verossimilhança restrita livre de derivadas e modelos estatísticos que incluíram efeitos fixos e aleatórios aditivos direto e materno, de ambiente permanente e residual, dependendo da característica. As herdabilidades obtidas foram 0,41 (PE12, 0,09 (IPP e 0,42 (PPP e indicam que PE12 e PPP podem apresentar boa resposta à seleção. As correlações genéticas de PN, P240, P365, P550, GND, GN18, D175 e D450 com PE12 (-0,39 a 0,46 foram favoráveis. Com IPP, PN (0,49 apresentou correlação desfavorável e as outras características de crescimento apresentaram correlações favoráveis (-0,38 a 0,44. Com PPP, as correlações das características de crescimento variaram de -0,47 a 0,88, enquanto as de PE12 com IPP e PPP foram iguais a -0,37 e 0,04, respectivamente. Esses resultados indicam que a seleção para aumentar os pesos e os ganhos de peso e/ou reduzir D175 e D450 em bovinos Canchim deve resultar em progresso genético na precocidade reprodutiva das fêmeas, mas, com os aumentos no PPP e a seleção para maior perímetro escrotal nos machos, deve resultar em fêmeas mais precoces sem aumentar o peso ao primeiro parto.The objective of this study was to estimate heritability of scrotal circumference at 12 months of age (SC12, age (AFC and weight (WFC at first calving and genetic correlations between each of these traits and the following growth traits: weight at birth (BW, weaning (WW, twelve (W12 and

  8. Genetics Home Reference: vitiligo

    Science.gov (United States)

    ... physical functioning. However, concerns about appearance and ethnic identity are significant issues for many affected ... What information about a genetic condition can statistics provide? Why are some genetic ...

  9. Genetic parameters for type traits in Holstein cows in Brazil

    Directory of Open Access Journals (Sweden)

    Rafael Viegas Campos

    2012-10-01

    Full Text Available Data from 26,558 Holstein cows in 802 herds were used to estimate genetic, residual and phenotypic parameters for 22 type traits. The model included the fixed effects of herd-year, period of classification, classifier, stage of lactation and age of cows at calving (covariate and random genetic and residual effects. Heritability for type traits ranged from 0.10 to 0.39. The genetic variability in these traits suggested the possibility for moderate genetic gains through selection. The phenotypic correlations were moderated, mainly in the section conformation. Genetic correlations between type traits ranged from -0.44 to 0.85. High genetic correlations indicated that breeding programs could be successful without including all type traits. The selection for the final score at the expense of other traits must be performed with restraint, because in the long term, this may promote undesirable changes in some type traits.

  10. Molecular genetic contributions to socioeconomic status and intelligence.

    Science.gov (United States)

    Marioni, Riccardo E; Davies, Gail; Hayward, Caroline; Liewald, Dave; Kerr, Shona M; Campbell, Archie; Luciano, Michelle; Smith, Blair H; Padmanabhan, Sandosh; Hocking, Lynne J; Hastie, Nicholas D; Wright, Alan F; Porteous, David J; Visscher, Peter M; Deary, Ian J

    2014-05-01

    Education, socioeconomic status, and intelligence are commonly used as predictors of health outcomes, social environment, and mortality. Education and socioeconomic status are typically viewed as environmental variables although both correlate with intelligence, which has a substantial genetic basis. Using data from 6815 unrelated subjects from the Generation Scotland study, we examined the genetic contributions to these variables and their genetic correlations. Subjects underwent genome-wide testing for common single nucleotide polymorphisms (SNPs). DNA-derived heritability estimates and genetic correlations were calculated using the 'Genome-wide Complex Trait Analyses' (GCTA) procedures. 21% of the variation in education, 18% of the variation in socioeconomic status, and 29% of the variation in general cognitive ability was explained by variation in common SNPs (SEs ~ 5%). The SNP-based genetic correlations of education and socioeconomic status with general intelligence were 0.95 (SE 0.13) and 0.26 (0.16), respectively. There are genetic contributions to intelligence and education with near-complete overlap between common additive SNP effects on these traits (genetic correlation ~ 1). Genetic influences on socioeconomic status are also associated with the genetic foundations of intelligence. The results are also compatible with substantial environmental contributions to socioeconomic status.

  11. Genetic aspects and genetic epidemiology of parasomnias.

    Science.gov (United States)

    Hublin, Christer; Kaprio, Jaakko

    2003-10-01

    Parasomnias are undesirable phenomena associated with sleep. Many of them run in families, and genetic factors have been long suggested to be involved in their occurrence. This article reviews the present knowledge of the genetics of the major classical behavioral parasomnias as well as present results from genetic epidemiological studies. The level and type of evidence for genetic effects varies much from parasomnia to parasomnia. The genetic factors are best established in enuresis, with several linkages to chromosomal loci, but their functions are not so far known. Environmental causes and gene-environment interactions are most probably also of great importance in the origin of complex traits or disorders such as parasomnias.

  12. Genetic contributions to human brain morphology and intelligence

    DEFF Research Database (Denmark)

    Hulshoff Pol, HE; Schnack, HG; Posthuma, D

    2006-01-01

    Variation in gray matter (GM) and white matter (WM) volume of the adult human brain is primarily genetically determined. Moreover, total brain volume is positively correlated with general intelligence, and both share a common genetic origin. However, although genetic effects on morphology...... of specific GM areas in the brain have been studied, the heritability of focal WM is unknown. Similarly, it is unresolved whether there is a common genetic origin of focal GM and WM structures with intelligence. We explored the genetic influence on focal GM and WM densities in magnetic resonance brain images.......55). Intelligence shared a common genetic origin with superior occipitofrontal, callosal, and left optical radiation WM and frontal, occipital, and parahippocampal GM (phenotypic correlations up to 0.35). These findings point to a neural network that shares a common genetic origin with human intelligence...

  13. Distilling pathophysiology from complex disease genetics.

    Science.gov (United States)

    Chakravarti, Aravinda; Clark, Andrew G; Mootha, Vamsi K

    2013-09-26

    Technologies for genome-wide sequence interrogation have dramatically improved our ability to identify loci associated with complex human disease. However, a chasm remains between correlations and causality that stems, in part, from a limiting theoretical framework derived from Mendelian genetics and an incomplete understanding of disease physiology. Here we propose a set of criteria, akin to Koch's postulates for infectious disease, for assigning causality between genetic variants and human disease phenotypes. Copyright © 2013 Elsevier Inc. All rights reserved.

  14. GENETIC AND NON-GENETIC PARAMETER ESTIMATES OF DAIRY CATTLE IN ETHIOPIA: A REVIEW

    Directory of Open Access Journals (Sweden)

    A. TESFA

    2014-07-01

    Full Text Available Ethiopia is endowed with diverse ecosystems inhabited by an abundant diversity of animal, plant and microbial genetic resources due to the availability of diverse agro-ecology. The productivity of any species depends largely on their reproductive performance. Reproduction is an indicator of reproductive efficiency and the rate of genetic progress in both selection and crossbreeding programs. Reproductive performance does not usually refer to a single trait, but to a combination of many traits and is an indicator of reproductive efficiency and the rate of genetic progress. The main indicators of reproductive performance those are reported by many authors are age at first service, age at first calving, calving interval, days open and number of services per conception. The non-genetic factors like sex of calf, season, year, and parity had significant effect on reproductive performance traits. Knowledge on these factors and their influence on cattle performance are important in management and selection decisions. Development of breeding objectives and effective genetic improvement programs require knowledge of the genetic variation among economically important traits and accurate estimates of heritability, repeatability and genetic correlations of these traits. The estimates of genetic parameters are helpful in determining the method of selection to predict direct and correlated response to selection, choosing a breeding system to be adopted for future improvement as well as genetic gains. The reproductive performance of Ethiopian indigenous and exotic breeds producing in the country is low due to various environmental factors and absence of integrated record on the sector that leads a biased result and recommendations of the genetic parameter estimates. Selection and designing of breeding programs for improving the production and productivity of indigenous breed through keeping their native potentials should be based on the results obtained from

  15. Fetal magnetic resonance imaging and human genetics

    Energy Technology Data Exchange (ETDEWEB)

    Hengstschlaeger, Markus [Medical Genetics, Obstetrics and Gynecology, Medical University of Vienna, Waehringer Guertel 18-20, 1090 Vienna (Austria)]. E-mail: markus.hengstschlaeger@meduniwien.ac.at

    2006-02-15

    The use of fetal magnetic resonance imaging (MRI), in addition to prenatal genetic testing and sonography, has the potential to improve prenatal diagnosis of genetic disorders. MRI plays an important role in the evaluation of fetal abnormalities and malformations. Fetal MRI often enables a differential diagnosis, a determination of the extent of the disorder, the prognosis, and an improvement in therapeutic management. For counseling of parents, as well as to basically understand how genetic aberrations affect fetal development, it is of great importance to correlate different genotypes with fetal MRI data.

  16. The genetics of immunity.

    Science.gov (United States)

    Lazzaro, Brian P; Schneider, David S

    2014-06-17

    In this commentary, Brian P. Lazzaro and David S. Schneider examine the topic of the Genetics of Immunity as explored in this month's issues of GENETICS and G3: Genes|Genomes|Genetics. These inaugural articles are part of a joint Genetics of Immunity collection (ongoing) in the GSA journals. Copyright © 2014 Lazzaro and Schneider.

  17. An evolutionary ecologist's view of how to study the persistence of genetic variation in personality

    NARCIS (Netherlands)

    Dingemanse, Niels J.

    2007-01-01

    Personality is commonly regarded to involve either 'correlations among behavioural traits' or 'consistent individual differences in behaviour across contexts'. Any evolutionary explanation for the existence of genetic variation in personality must therefore not only address why genetic variation in

  18. Genetic parameters and correlations among linear type traits in the ...

    African Journals Online (AJOL)

    user

    2011-02-28

    Feb 28, 2011 ... type traits in the first lactation of Holstein dairy cows. 3274 records for .... Consequently, mastitis suffering probability could be low for these ... Estimation of (Co)variance components for Jersey type traits using a repeatability ...

  19. Correlation of physical and genetic maps of human chromosome 16

    Energy Technology Data Exchange (ETDEWEB)

    Sutherland, G.R.

    1990-01-01

    This project is now progressing strongly. Thirteen somatic cell hybrids containing rearranged {number sign}16 chromosomes have been constructed, bringing the total number of hybrids constructed by the group to 27 which divides chromosome 16 into 29 regions. 170 probes have been mapped into these regions. Although this is the second progress report for this contract it essentially contains all the work carried out since the first progress report covered a period of less than three months during which little had been done other than setting up. The project has been progressing very well and has led to numerous collaborations with other groups involved in mapping this chromosome or studying genes on it. 7 refs., 1 fig., 2 tabs.

  20. Genetic analysis of foal and studbook traits in selection for racing performance in trotters

    OpenAIRE

    Suontama, Mari

    2012-01-01

    The objective of this thesis was to evaluate the usefulness of body measurements and functional and conformation traits of foals and studbook horses in the breeding programmes of Finnhorse and Standardbred. Thus, nongenetic effects, heritability and repeatability, and genetic correlations for foal and studbook traits were estimated. In addition, genetic parameters for trotting race performance and genetic correlations for foal and studbook traits with racing traits were assessed. Genetic resp...

  1. Is homosexuality genetic? A critical review and some suggestions.

    Science.gov (United States)

    McGuire, T R

    1995-01-01

    Genetic analysis of behavioral differences among human beings requires both careful experimental design and appropriate genetic models. Any genetic study must be (1) valid and precise measures of individual differences, (2) appropriate methods to ascertain biological relationships, (3) research subjects who have been randomly recruited, (4) appropriate sample sizes, and (5) appropriate genetic models to interpret the data. In addition, the researchers must exercise caution in interpreting biosocial effects from the observed phenotypic correlations. To date, all studies of the genetic basis of sexual orientation of men and women have failed to meet one or more or any of the above criteria.

  2. Genetic engineering, medicine and medical genetics.

    Science.gov (United States)

    Motulsky, A G

    1984-01-01

    The impact of DNA technology in the near future will be on the manufacture of biologic agents and reagents that will lead to improved therapy and diagnosis. The use of DNA technology for prenatal and preclinical diagnosis in genetic diseases is likely to affect management of genetic diseases considerably. New and old questions regarding selective abortion and the psychosocial impact of early diagnosis of late appearing diseases and of genetic susceptibilities are being raised. Somatic therapy with isolated genes to treat disease has not been achieved. True germinal genetic engineering is far off for humans but may find applications in animal agriculture.

  3. Smoking and caffeine consumption: a genetic analysis of their association.

    Science.gov (United States)

    Treur, Jorien L; Taylor, Amy E; Ware, Jennifer J; Nivard, Michel G; Neale, Michael C; McMahon, George; Hottenga, Jouke-Jan; Baselmans, Bart M L; Boomsma, Dorret I; Munafò, Marcus R; Vink, Jacqueline M

    2017-07-01

    Smoking and caffeine consumption show a strong positive correlation, but the mechanism underlying this association is unclear. Explanations include shared genetic/environmental factors or causal effects. This study employed three methods to investigate the association between smoking and caffeine. First, bivariate genetic models were applied to data of 10 368 twins from the Netherlands Twin Register in order to estimate genetic and environmental correlations between smoking and caffeine use. Second, from the summary statistics of meta-analyses of genome-wide association studies on smoking and caffeine, the genetic correlation was calculated by LD-score regression. Third, causal effects were tested using Mendelian randomization analysis in 6605 Netherlands Twin Register participants and 5714 women from the Avon Longitudinal Study of Parents and Children. Through twin modelling, a genetic correlation of r0.47 and an environmental correlation of r0.30 were estimated between current smoking (yes/no) and coffee use (high/low). Between current smoking and total caffeine use, this was r0.44 and r0.00, respectively. LD-score regression also indicated sizeable genetic correlations between smoking and coffee use (r0.44 between smoking heaviness and cups of coffee per day, r0.28 between smoking initiation and coffee use and r0.25 between smoking persistence and coffee use). Consistent with the relatively high genetic correlations and lower environmental correlations, Mendelian randomization provided no evidence for causal effects of smoking on caffeine or vice versa. Genetic factors thus explain most of the association between smoking and caffeine consumption. These findings suggest that quitting smoking may be more difficult for heavy caffeine consumers, given their genetic susceptibility. © 2016 The Authors.Addiction Biology published by John Wiley & Sons Ltd on behalf of Society for the Study of Addiction.

  4. Mouse gestation length is genetically determined.

    Directory of Open Access Journals (Sweden)

    Stephen A Murray

    Full Text Available BACKGROUND: Preterm birth is an enormous public health problem, affecting over 12% of live births and costing over $26 billion in the United States alone. The causes are complex, but twin studies support the role of genetics in determining gestation length. Despite widespread use of the mouse in studies of the genetics of preterm birth, there have been few studies that actually address the precise natural gestation length of the mouse, and to what degree the timing of labor and birth is genetically determined. METHODOLOGY/PRINCIPAL FINDINGS: To further develop the mouse as a genetic model of preterm birth, we developed a high-throughput monitoring system and measured the gestation length in 15 inbred strains. Our results show an unexpectedly wide variation in overall gestation length between strains that approaches two full days, while intra-strain variation is quite low. Although litter size shows a strong inverse correlation with gestation length, genetic difference alone accounts for a significant portion of the variation. In addition, ovarian transplant experiments support a primary role of maternal genetics in the determination of gestation length. Preliminary analysis of gestation length in the C57BL/6J-Chr#(A/J/NaJ chromosome substitution strain (B.A CSS panel suggests complex genetic control of gestation length. CONCLUSIONS/SIGNIFICANCE: Together, these data support the role of genetics in regulating gestation length and present the mouse as an important tool for the discovery of genes governing preterm birth.

  5. Basic genetics for dermatologists

    Directory of Open Access Journals (Sweden)

    Muthu Sendhil Kumaran

    2013-01-01

    Full Text Available During the past few decades, advances in the field of molecular genetics have enriched us in understanding the pathogenesis of diseases, their identification, and appropriate therapeutic interventions. In the last 20 years, genetic basis of more than 350 monogenic skin diseases have been elucidated and is counting. The widespread use of molecular genetics as a tool in diagnosis is not practiced routinely due to genetic heterogenicity, limited access and low sensitivity. In this review, we have presented the very basics of genetics so as to enable dermatologists to have working understanding of medical genetics.

  6. Estimativas de parâmetros genéticos e de ganhos direto e indireto à seleção para características de crescimento de machos e fêmeas da raça Canchim Estimates of genetic parameters and of direct and correlated responses to selection for growth traits of Canchim cattle

    Directory of Open Access Journals (Sweden)

    Viviane Martha de Castro-Pereira

    2007-08-01

    Full Text Available Neste trabalho, objetivou-se estimar as herdabilidades e as correlações genéticas entre os pesos ao nascimento (PN, à desmama (P240, ao ano (P365 e ao sobreano (P550, os ganhos de peso do nascimento à desmama (GND e do nascimento ao sobreano (GN18, o número de dias para ganhar 175 kg do nascimento à desmama (D175 e para ganhar 450 kg do nascimento ao abate (D450 de machos e fêmeas, o peso adulto (PAD de fêmeas em um rebanho da raça Canchim visando à definição de critérios de seleção. Foram realizadas análises unicaracteres e bicaracteres pelo método da máxima verossimilhança restrita livre de derivadas utilizando-se modelos estatísticos que incluíram os efeitos fixos de ano e mês de nascimento, sexo do animal, ano e mês do parto, idade do animal ao parto e idade da mãe como covariável (efeitos linear e quadrático, além dos efeitos aleatórios aditivo direto e materno, de ambiente permanente e residual, dependendo da característica. As estimativas de herdabilidade obtidas pelas análises unicaracteres foram iguais a 0,41 (PN, 0,28 (P240, 0,38 (P365, 0,28 (P550, 0,26 (GND, 0,30 (GN18, 0,23 (D175, 0,23 (D450 e 0,48 (PAD, enquanto as estimativas de correlação genética obtidas por análises bicaracteres variaram de 0,28 a 0,97 entre os pesos, de 0,11 a 0,97 entre pesos e ganhos de peso, de 0,00 a -0,98 entre pesos e dias para atingir determinado peso, e de -0,63 a -0,98 entre os ganhos de peso e dias para atingir determinado peso e iguais a 0,69 para GND e GN18 e 0,76 para D175 e D450. Estas estimativas sugerem a possibilidade de se obter progresso genético pela seleção para todas as características estudadas e que a seleção para qualquer uma delas deverá provocar mudanças nas outras.The objective of this study was to estimate heritability and genetic correlations for body weight at birth (BW, weaning (WW, twelve (W12 and eighteen (W18 months of age, weight gains from birth to weaning (DGBW and from birth to

  7. Alport syndrome. Molecular genetic aspects

    DEFF Research Database (Denmark)

    Hertz, Jens Michael

    2009-01-01

    Alport syndrome (AS) is a progressive renal disease that is characterised by hematuria and progressive renal failure, and often accompanied by progressive high-tone sensorineural hearing loss and ocular changes in form of macular flecks and lenticonus. AS is a genetic heterogenous disease, and X...... practice for carrier detection and prenatal diagnosis, in order to be able to offer a better genetic counselling to the families. Knowledge of a possible correlation between genotype and phenotype can be of help in predicting the prognosis. Samples from 135 probands suspected of AS and 359...... of their relatives were collected, together with available clinical information. Southern blotting analysis and multiplex ligation-dependent probe amplification (MLPA) were used to screen for larger structural rearrangements (deletions and duplications). cDNA probes covering the entire coding region of the COL4A5...

  8. Recovering geography from a matrix of genetic distances

    Science.gov (United States)

    Serva, M.; Vergni, D.; Volchenkov, D.; Vulpiani, A.

    2017-05-01

    Given a population of N elements with their geographical positions and the genetic (or lexical) distances between couples of elements (inferred, for example, from lexical differences between dialects which are spoken in different towns or from genetic differences between animal populations living in different faunal areas) a very interesting problem is to reconstruct the geographical positions of individuals using only genetic/lexical distances. From a technical point of view the program consists in extracting from the genetic/lexical distances a set of reconstructed geographical positions to be compared with the real ones. We show that geographical recovering is successful when the genetic/lexical distances are not a simple consequence of phylogenesis but also of horizontal transfers as, for example, vocabulary borrowings between different languages. Our results go well beyond the simple observation that geographical distances and genetic/lexical distances are correlated. The ascertainment of a correlation, in our perspective, merely is a prerequisite.

  9. Correlation and Entanglement

    Institute of Scientific and Technical Information of China (English)

    Shun-long Luo; You-feng Luo

    2003-01-01

    In quantum mechanics, it is long recognized that there exist correlations between observables which are much stronger than the classical ones. These correlations are usually called entanglement, and cannot be accounted for by classical theory. In this paper, we will study correlations between observables in terms of covariance and the Wigner-Yanase correlation, and compare their merits in characterizing entanglement. We will show that the Wigner-Yanase correlation has some advantages over the conventional covariance.

  10. Influência da interação touro x rebanho na estimação da correlação entre efeitos genéticos direto e materno em bovinos da raça Nelore Influence of sire x herd interaction on the estimation of correlation between direct and maternal genetic effects in Nellore cattle

    Directory of Open Access Journals (Sweden)

    Joanir Pereira Eler

    2000-12-01

    genetic correlations between direct x maternal effects are close to zero or even positive if sire x herd interaction is fitted in the model, and always negative if it is not.

  11. Genetic diversity among Botryosphaeria isolates and their correlation with cell wall-lytic enzyme production Diversidade genética entre isolados de Botryosphaeria e correlação com a produção de enzimas líticas da parede celular

    Directory of Open Access Journals (Sweden)

    Roze L. Saldanha

    2007-06-01

    Full Text Available Nine isolates of Botryosphaeria spp. were evaluated for their growth and the production of cell wall-lytic enzymes (laccase, pectinase and beta-1,3-glucanase when grown on basal medium in the absence and presence of the laccase inducer, veratryl alcohol (VA. The genetic relationship among the nine isolates collected from different host plants was determined by RAPD analyses. ITS sequence analysis showed eight closely related isolates classified as Botryosphaeria rhodina, and one isolate classified as Botryosphaeria ribis. RAPD analysis resolved the isolates into three main clusters based upon levels of laccase and beta-1,3-glucanase activity. There appears to be no correlation between pectinase production and genetic diversity among the nine isolates. However, the strain characterized as B. ribis, positioned out of the main cluster, was found to be the highest producer of pectinases in the presence of VA.Nove isolados de Botryosphaeria spp foram avaliados quanto ao crescimento e produção de enzimas líticas da parede celular (lacase, pectinase e beta-1,3-glucanase quando cultivados em meio basal na ausência e presença do indutor de lacase álcool veratrílico (VA. As relações genéticas entre os nove isolados coletados de diferentes plantas hospedeiras foram determinadas por RAPD. A análise das seqüências de nucleotídeos da região ITS mostrou oito isolados estreitamente relacionados, os quais foram classificados como Botryosphaeria rhodina e um isolado como Botryosphaeria ribis. A análise por RAPD agrupou os isolados em três grupos principais condizentes com os níveis de atividades de lacase e beta-1,3-glucanase. Nenhuma correlação foi detectada entre a produção de pectinase e a diversidade genética nos nove isolados. Entretanto, a linhagem caracterizada como B. ribis, posicionada fora dos grupos principais, se mostrou maior produtora de pectinase na presença de álcool veratrílico.

  12. Correlation between the genetic polymorphism of IFN-γ + 874 site and susceptibility to pulmonary tuberculosis in patients with TB and healthy subjects%IFN-γ基因+874位点基因多态性与肺结核易感性的病例对照研究

    Institute of Scientific and Technical Information of China (English)

    王海宾; 国文; 杨淑岭; 康书慧; 刘海云; 曹金凤; 田红卫; 檀新云; 刘玉肖

    2011-01-01

    Objective To investigate the association between the IFN-"y +874 site genetic polymorphisms and pathogenesis of pulmonary tuberculosis (TB) in Chinese Han population. Methods A case-control study was adopted, and the ARMS-PCR analysis was used to determine the genotype of IFN-γ + 874 site in case group ( n = 273) and control group (279). At the same time,the questionnaire investigation about TB-related environment risk factors was performed. Results There were no significant differences in different genotypes at IFN-γ + 874 site between the two groups ( P > 0. 05 ). After the exposure history and BCG vaccination history were adjusted the multifactor analysis showed the genotypes at IFN-γ + 874 site were still not correlated with the pathogenesis of pulmonary TB. Conclusion The IFN-γ + 874A/T genetic polymorphism may be not obviously related with the pathogenesis of pulmonary TB in Chinese Han population.%目的 探讨干扰素-γ(IFN-γ)基因多态性与中国汉族人群肺结核发病间的关系.方法 采用病例对照研究设计,应用扩增难控性突变系统PCR法检测(ARMS-PCR)病例组(n=273)及对照组(n=279)IFN-γ基因+874位点的基因型,同时开展对结核病相关环境危险因素进行问卷调查.结果 + 874位点各基因型在2组中的分布差异无统计学意义(P>0.05).多因素分析中调整了接触史和卡介苗接种史后,+ 874基因型仍与肺结核发病无显著关联.结论 IFN-γ+874位点基因多态性可能与中国汉族人群肺结核发生的易感性无显著关联.

  13. General correlation and partial correlation analysis in finding interactions: with Spearman rank correlation and proportion correlation as correlation measures

    OpenAIRE

    WenJun Zhang; Xin Li

    2015-01-01

    Between-taxon interactions can be detected by calculating the sampling data of taxon sample type. In present study, Spearman rank correlation and proportion correlation are chosen as the general correlation measures, and their partial correlations are calculated and compared. The results show that for Spearman rank correlation measure, in all predicted candidate direct interactions by partial correlation, about 16.77% (x, 0-45.4%) of them are not successfully detected by Spearman rank correla...

  14. Smoking and caffeine consumption: A genetic analysis of their association

    NARCIS (Netherlands)

    Treur, J.L.; Taylor, A.E.; Ware, J.J.; Nivard, M.G.; Neale, M.C.; McMahon, G.; Hottenga, J.J.; Baselmans, B.M.L.; Boomsma, D.I.; Munafò, M.R.; Vink, J.M.

    2017-01-01

    Smoking and caffeine consumption show a strong positive correlation, but the mechanism underlying this association is unclear. Explanations include shared genetic/environmental factors or causal effects. This study employed three methods to investigate the association between smoking and caffeine.

  15. Genetic Parameters of Some Economic Traits in Arabi Ewes

    Directory of Open Access Journals (Sweden)

    S F. Al-Dabbagh

    2013-12-01

    Full Text Available Data were analyzed of Arabi ewes flock (153 within productive years 1990-1999 to estimate the overall mean and genetic parameters which are heritability, repeatability, genetic and phenotypic correlations for fertility, litter size, ewes weight, lambs birth weights, milk and wool yield for this breed. The overall mean for fertility, litter size, ewes weight, lambs birth weights, daily milk yield and greasy fleece weight were 70.07%, 1.14, 50.24 kg, 4.52 kg, 0.59 kg and 1.67 kg respectively. Heritability estimates were low- moderate ranged (0.09-0.45. Repeatability estimates were low-high ranged (0.10-0.56. Genetic and phenotypic values of correlation between the traits were all highly significant (p≤ 0.01 except for the genetic and phenotypic correlation between birth weight and both daily milk yield, fertility, phenotypic correlation between greasy fleece weight and both fertility, litter size were non significant.

  16. DATA SYNTHESIS AND METHOD EVALUATION FOR BRAIN IMAGING GENETICS

    OpenAIRE

    Sheng, Jinhua; Kim, Sungeun; Yan, Jingwen; Moore, Jason; Saykin, Andrew; Shen, Li

    2014-01-01

    Brain imaging genetics is an emergent research field where the association between genetic variations such as single nucleotide polymorphisms (SNPs) and neuroimaging quantitative traits (QTs) is evaluated. Sparse canonical correlation analysis (SCCA) is a bi-multivariate analysis method that has the potential to reveal complex multi-SNP-multi-QT associations. We present initial efforts on evaluating a few SCCA methods for brain imaging genetics. This includes a data synthesis method to create...

  17. Parental Education Moderates Genetic Influences on Reading Disability

    OpenAIRE

    Friend, Angela; DeFries, John C.; Olson, Richard K.

    2008-01-01

    Environmental moderation of the level of genetic influence on children's reading disabilities (RD) was explored in a sample of 545 identical and fraternal twins (mean age = 11.5 years). Parents' years of education, which are correlated with a broad range of environmental factors related to reading development, were significantly related to the level of genetic influence on reading disability (t = 3.23, Prep = .99). Genetic influence was higher and environmental influence was lower among child...

  18. Genetics Home Reference

    Science.gov (United States)

    Skip Navigation Bar Home Current Issue Past Issues Genetics Home Reference Past Issues / Spring 2007 Table of ... of this page please turn Javascript on. The Genetics Home Reference (GHR) Web site — ghr.nlm.nih. ...

  19. Genetics of Hearing Loss

    Science.gov (United States)

    ... in Latin America Information For... Media Policy Makers Genetics of Hearing Loss Language: English Español (Spanish) Recommend ... of hearing loss in babies is due to genetic causes. There are also a number of things ...

  20. Frontotemporal Dementia: Genetics

    Science.gov (United States)

    ... Calendar of Events Fundraising Events Conferences Press Releases Genetics of FTD After receiving a diagnosis of FTD ... that recent advances in science have brought the genetics of FTD into much better focus. In 2012, ...

  1. Genetic Disease Foundation

    Science.gov (United States)

    ... mission to help prevent, manage and treat inherited genetic diseases. View our latest News Brief here . You can ... contributions to the diagnosis, prevention and treatment of genetic diseases. Learn how advances at Mount Sinai have impacted ...

  2. Genetic Brain Disorders

    Science.gov (United States)

    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form ... mutation is a change in a gene. Genetic brain disorders affect the development and function of the ...

  3. Software For Genetic Algorithms

    Science.gov (United States)

    Wang, Lui; Bayer, Steve E.

    1992-01-01

    SPLICER computer program is genetic-algorithm software tool used to solve search and optimization problems. Provides underlying framework and structure for building genetic-algorithm application program. Written in Think C.

  4. Genetics Home Reference

    Science.gov (United States)

    ... changes Browse A–Z Chromosomes & mtDNA Autosomes, sex chromosomes, and mitochondrial DNA (mtDNA) Browse Help Me Understand Genetics Learn about the basics of human genetics Browse New & Updated Pages New Pages Omenn ...

  5. Genetically engineered foods

    Science.gov (United States)

    Bioengineered foods; GMOs; Genetically modified foods ... helps speed up the process of creating new foods with desired traits. The possible benefits of genetic engineering include: More nutritious food Tastier food Disease- and ...

  6. Genetics of Parkinson's disease

    National Research Council Canada - National Science Library

    Klein, Christine; Westenberger, Ana

    2012-01-01

    Fifteen years of genetic research in Parkinson's disease (PD) have led to the identification of several monogenic forms of the disorder and of numerous genetic risk factors increasing the risk to develop PD...

  7. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we...... examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection...... with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were...

  8. Genetics Home Reference: hyperprolinemia

    Science.gov (United States)

    ... can also occur with other conditions, such as malnutrition or liver disease. In particular, individuals with conditions ... Topic: Amino Acid Metabolism Disorders Health Topic: Genetic Brain Disorders Health Topic: Newborn Screening Genetic and Rare ...

  9. Genetics Home Reference: hypermethioninemia

    Science.gov (United States)

    ... C. Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism. Hum Genet. ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  10. Introduction to Protein Structure through Genetic Diseases

    Science.gov (United States)

    Schneider, Tanya L.; Linton, Brian R.

    2008-01-01

    An illuminating way to learn about protein function is to explore high-resolution protein structures. Analysis of the proteins involved in genetic diseases has been used to introduce students to protein structure and the role that individual mutations can play in the onset of disease. Known mutations can be correlated to changes in protein…

  11. Introduction to Protein Structure through Genetic Diseases

    Science.gov (United States)

    Schneider, Tanya L.; Linton, Brian R.

    2008-01-01

    An illuminating way to learn about protein function is to explore high-resolution protein structures. Analysis of the proteins involved in genetic diseases has been used to introduce students to protein structure and the role that individual mutations can play in the onset of disease. Known mutations can be correlated to changes in protein…

  12. Genetic divergence predicts reproductive isolation in damselflies.

    Science.gov (United States)

    Sánchez-Guillén, R A; Córdoba-Aguilar, A; Cordero-Rivera, A; Wellenreuther, M

    2014-01-01

    Reproductive isolation is the defining characteristic of a biological species, and a common, but often untested prediction is a positive correlation between reproductive isolation and genetic divergence. Here, we test for this correlation in odonates, an order characterized by strong sexual selection. First, we measure reproductive isolation and genetic divergence in eight damselfly genera (30 species pairs) and test for a positive correlation. Second, we estimate the genetic threshold preventing hybrid formation and empirically test this threshold using wild populations of species within the Ischnura genus. Our results indicate a positive and strong correlation between reproductive isolation and genetic distance using both mitochondrial and nuclear genes cytochrome oxidase II (COII: r = 0.781 and 18S-28S: r = 0.658). Hybridization thresholds range from -0.43 to 1.78% for COII and -0.052-0.71% for 18S-28S, and both F1 -hybrids and backcrosses were detected in wild populations of two pairs of Ischnura species with overlapping thresholds. Our study suggests that threshold values are suitable to identify species prone to hybridization and that positive isolation-divergence relationships are taxonomically widespread.

  13. Genetic Architecture of Plasma Adiponectin Overlaps With the Genetics of Metabolic Syndrome–Related Traits

    Science.gov (United States)

    Henneman, Peter; Aulchenko, Yurii S.; Frants, Rune R.; Zorkoltseva, Irina V.; Zillikens, M. Carola; Frolich, Marijke; Oostra, Ben A.; van Dijk, Ko Willems; van Duijn, Cornelia M.

    2010-01-01

    OBJECTIVE Adiponectin, a hormone secreted by adipose tissue, is of particular interest in metabolic syndrome, because it is inversely correlated with obesity and insulin sensitivity. However, it is not known to what extent the genetics of plasma adiponectin and the genetics of obesity and insulin sensitivity are interrelated. We aimed to evaluate the heritability of plasma adiponectin and its genetic correlation with the metabolic syndrome and metabolic syndrome–related traits and the association between these traits and 10 ADIPOQ single nucleotide polymorphisms (SNPs). RESEARCH DESIGN AND METHODS We made use of a family-based population, the Erasmus Rucphen Family study (1,258 women and 967 men). Heritability analysis was performed using a polygenic model. Genetic correlations were estimated using bivariate heritability analyses. Genetic association analysis was performed using a mixed model. RESULTS Plasma adiponectin showed a heritability of 55.1%. Genetic correlations between plasma adiponectin HDL cholesterol and plasma insulin ranged from 15 to 24% but were not significant for fasting glucose, triglycerides, blood pressure, homeostasis model assessment of insulin resistance (HOMA-IR), and C-reactive protein. A significant association with plasma adiponectin was found for ADIPOQ variants rs17300539 and rs182052. A nominally significant association was found with plasma insulin and HOMA-IR and ADIPOQ variant rs17300539 after adjustment for plasma adiponectin. CONCLUSIONS The significant genetic correlation between plasma adiponectin and HDL cholesterol and plasma insulin should be taken into account in the interpretation of genome-wide association studies. Association of ADIPOQ SNPs with plasma adiponectin was replicated, and we showed association between one ADIPOQ SNP and plasma insulin and HOMA-IR. PMID:20067957

  14. Genetical genomics identifies the genetic architecture for growth and weevil resistance in spruce.

    Science.gov (United States)

    Porth, Ilga; White, Richard; Jaquish, Barry; Alfaro, René; Ritland, Carol; Ritland, Kermit

    2012-01-01

    In plants, relationships between resistance to herbivorous insect pests and growth are typically controlled by complex interactions between genetically correlated traits. These relationships often result in tradeoffs in phenotypic expression. In this study we used genetical genomics to elucidate genetic relationships between tree growth and resistance to white pine terminal weevil (Pissodes strobi Peck.) in a pedigree population of interior spruce (Picea glauca, P. engelmannii and their hybrids) that was growing at Vernon, B.C. and segregating for weevil resistance. Genetical genomics uses genetic perturbations caused by allelic segregation in pedigrees to co-locate quantitative trait loci (QTLs) for gene expression and quantitative traits. Bark tissue of apical leaders from 188 trees was assayed for gene expression using a 21.8K spruce EST-spotted microarray; the same individuals were genotyped for 384 SNP markers for the genetic map. Many of the expression QTLs (eQTL) co-localized with resistance trait QTLs. For a composite resistance phenotype of six attack and oviposition traits, 149 positional candidate genes were identified. Resistance and growth QTLs also overlapped with eQTL hotspots along the genome suggesting that: 1) genetic pleiotropy of resistance and growth traits in interior spruce was substantial, and 2) master regulatory genes were important for weevil resistance in spruce. These results will enable future work on functional genetic studies of insect resistance in spruce, and provide valuable information about candidate genes for genetic improvement of spruce.

  15. Genetical genomics identifies the genetic architecture for growth and weevil resistance in spruce.

    Directory of Open Access Journals (Sweden)

    Ilga Porth

    Full Text Available In plants, relationships between resistance to herbivorous insect pests and growth are typically controlled by complex interactions between genetically correlated traits. These relationships often result in tradeoffs in phenotypic expression. In this study we used genetical genomics to elucidate genetic relationships between tree growth and resistance to white pine terminal weevil (Pissodes strobi Peck. in a pedigree population of interior spruce (Picea glauca, P. engelmannii and their hybrids that was growing at Vernon, B.C. and segregating for weevil resistance. Genetical genomics uses genetic perturbations caused by allelic segregation in pedigrees to co-locate quantitative trait loci (QTLs for gene expression and quantitative traits. Bark tissue of apical leaders from 188 trees was assayed for gene expression using a 21.8K spruce EST-spotted microarray; the same individuals were genotyped for 384 SNP markers for the genetic map. Many of the expression QTLs (eQTL co-localized with resistance trait QTLs. For a composite resistance phenotype of six attack and oviposition traits, 149 positional candidate genes were identified. Resistance and growth QTLs also overlapped with eQTL hotspots along the genome suggesting that: 1 genetic pleiotropy of resistance and growth traits in interior spruce was substantial, and 2 master regulatory genes were important for weevil resistance in spruce. These results will enable future work on functional genetic studies of insect resistance in spruce, and provide valuable information about candidate genes for genetic improvement of spruce.

  16. Genetic structure and diversity within and among six populations of ...

    African Journals Online (AJOL)

    Yomi

    2010-04-24

    Apr 24, 2010 ... positive correlation between molecular genetic variation and actual population size. ... Key words: Capparis decidua, Tandhab, Assos, Population size, RAPD markers, Genetic diversity. .... polymorphism in some population, and were monomorphic ... highly informative and produced 152 bands with an ...

  17. Genetics in psychiatry.

    Science.gov (United States)

    Umesh, Shreekantiah; Nizamie, Shamshul Haque

    2014-04-01

    Today, psychiatrists are focusing on genetics aspects of various psychiatric disorders not only for a future classification of psychiatric disorders but also a notion that genetics would aid in the development of new medications to treat these disabling illnesses. This review therefore emphasizes on the basics of genetics in psychiatry as well as focuses on the emerging picture of genetics in psychiatry and their future implications.

  18. Behavioral genetics and taste

    Directory of Open Access Journals (Sweden)

    Bachmanov Alexander A

    2007-09-01

    Full Text Available Abstract This review focuses on behavioral genetic studies of sweet, umami, bitter and salt taste responses in mammals. Studies involving mouse inbred strain comparisons and genetic analyses, and their impact on elucidation of taste receptors and transduction mechanisms are discussed. Finally, the effect of genetic variation in taste responsiveness on complex traits such as drug intake is considered. Recent advances in development of genomic resources make behavioral genetics a powerful approach for understanding mechanisms of taste.

  19. Genetic instability in Gynecological Cancer

    Institute of Scientific and Technical Information of China (English)

    ZHAO Qing-hua; ZHOU Hong-lin

    2003-01-01

    Defects of mismatch repair (MMR) genes also have beenidentified in many kinds of tumors. Loss of MMR functionhas been linked to genetic instability especially microsatelliteinstability that results in high mutation rate. In this review, wediscussed the microsatellite instability observed in thegynecological tumors. We also discussed defects in the DNAmismatch repair in these tumors and their correlation to themicrosatellite instability, as well as the gene mutations due tothe microsatellite instability in these tumors. From thesediscussion, we tried to understand the mechanism ofcarcinogenesis in gynecological tumors from the aspect ofgenetic instability due to mismatch repair defects.

  20. Explicit correlation factors

    Science.gov (United States)

    Johnson, Cole M.; Hirata, So; Ten-no, Seiichiro

    2017-09-01

    We analyze the performance of 17 different correlation factors in explicitly correlated second-order many-body perturbation calculations for correlation energies. Highly performing correlation factors are found to have near-universal shape and size in the short range of electron-electron distance (0 1.5 a.u.) is insignificant insofar as the factor becomes near constant, leaving an orbital expansion to describe decoupled electrons. An analysis based on a low-rank Taylor expansion of the correlation factor seems limited, except that a negative second derivative with the value of around -1.3 a.u. correlates with high performance.

  1. Statistics for Learning Genetics

    Science.gov (United States)

    Charles, Abigail Sheena

    2012-01-01

    This study investigated the knowledge and skills that biology students may need to help them understand statistics/mathematics as it applies to genetics. The data are based on analyses of current representative genetics texts, practicing genetics professors' perspectives, and more directly, students' perceptions of, and performance in, doing…

  2. Report: Human cancer genetics

    Institute of Scientific and Technical Information of China (English)

    LI Marilyn; ALBERTSON Donna

    2006-01-01

    The short report will be focused on the genetic basis and possible mechanisms of tumorigenesis, common types of cancer, the importance of genetic diagnosis of cancer, and the methodology of cancer genetic diagnosis. They will also review presymptomatic testing of hereditary cancers, and the application of expression profiling to identify patients likely to benefit from particular therapeutic approaches.

  3. Prenatal screening and genetics

    NARCIS (Netherlands)

    Alderson, P.; Aro, A.R.; Dragonas, T.; Ettorre, E.; Hemminki, E.; Jalinoja, P.; Santalahti, P.; Tijmstra, T.

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we

  4. Human cancer genetics*

    OpenAIRE

    2006-01-01

    The short report will be focused on the genetic basis and possible mechanisms of tumorigenesis, common types of cancer, the importance of genetic diagnosis of cancer, and the methodology of cancer genetic diagnosis. They will also review presymptomatic testing of hereditary cancers, and the application of expression profiling to identify patients likely to benefit from particular therapeutic approaches.

  5. Statistics for Learning Genetics

    Science.gov (United States)

    Charles, Abigail Sheena

    2012-01-01

    This study investigated the knowledge and skills that biology students may need to help them understand statistics/mathematics as it applies to genetics. The data are based on analyses of current representative genetics texts, practicing genetics professors' perspectives, and more directly, students' perceptions of, and performance in, doing…

  6. Prenatal screening and genetics

    NARCIS (Netherlands)

    Alderson, P.; Aro, A.R.; Dragonas, T.; Ettorre, E.; Hemminki, E.; Jalinoja, P.; Santalahti, P.; Tijmstra, T.

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we exami

  7. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we ex...

  8. Genetic and epigenetic differences associated with environmental gradients in replicate populations of two salt marsh perennials.

    Science.gov (United States)

    Foust, C M; Preite, V; Schrey, A W; Alvarez, M; Robertson, M H; Verhoeven, K J F; Richards, C L

    2016-04-01

    While traits and trait plasticity are partly genetically based, investigating epigenetic mechanisms may provide more nuanced understanding of the mechanisms underlying response to environment. Using AFLP and methylation-sensitive AFLP, we tested the hypothesis that differentiation to habitats along natural salt marsh environmental gradients occurs at epigenetic, but not genetic loci in two salt marsh perennials. We detected significant genetic and epigenetic structure among populations and among subpopulations, but we found multilocus patterns of differentiation to habitat type only in epigenetic variation for both species. In addition, more epigenetic than genetic loci were correlated with habitat in both species. When we analysed genetic and epigenetic variation simultaneously with partial Mantel, we found no correlation between genetic variation and habitat and a significant correlation between epigenetic variation and habitat in Spartina alterniflora. In Borrichia frutescens, we found significant correlations between epigenetic and/or genetic variation and habitat in four of five populations when populations were analysed individually, but there was no significant correlation between genetic or epigenetic variation and habitat when analysed jointly across the five populations. These analyses suggest that epigenetic mechanisms are involved in the response to salt marsh habitats, but also that the relationships among genetic and epigenetic variation and habitat vary by species. Site-specific conditions may also cloud our ability to detect response in replicate populations with similar environmental gradients. Future studies analysing sequence data and the correlation between genetic variation and DNA methylation will be powerful to identify the contributions of genetic and epigenetic response to environmental gradients.

  9. GENETICS AND GENOMICS OF PLANT GENETIC RESOURCES

    Directory of Open Access Journals (Sweden)

    Börner A.

    2012-08-01

    Full Text Available Plant genetic resources play a major role for global food security. The most significant and widespread mean of conserving plant genetic resources is ex situ conservation. Most conserved accessions are kept in specialized facilities known as genebanks maintained by public or private institutions. World-wide 7.4 million accessions are stored in about 1,500 ex situ genebanks.In addition, series of genetic stocks including chromosome substitution lines, alloplasmic lines, single chromosome recombinant lines, introgression lines, etc. have been created. Analysing these genetic stocks many qualitative and quantitative inherited traits were associated to certain chromosomes, chromosome arms or introgressed segments. Today, genetic stocks are supplemented by a huge number of genotyped mapping populations. Beside progenies of bi-parental crosses (doubled haploid lines, recombinant inbred lines, etc. panels for association mapping were created recently.In our presentation we give examples for the successful utilisation of genebank accessions and genetic stocks for genetic and genomic studies. Using both segregation and association mapping approaches, data on mapping of loci/marker trait associations for a range of different traits are presented.

  10. Feline genetics: clinical applications and genetic testing.

    Science.gov (United States)

    Lyons, Leslie A

    2010-11-01

    DNA testing for domestic cat diseases and appearance traits is a rapidly growing asset for veterinary medicine. Approximately 33 genes contain 50 mutations that cause feline health problems or alterations in the cat's appearance. A variety of commercial laboratories can now perform cat genetic diagnostics, allowing both the veterinary clinician and the private owner to obtain DNA test results. DNA is easily obtained from a cat via a buccal swab with a standard cotton bud or cytological brush, allowing DNA samples to be easily sent to any laboratory in the world. The DNA test results identify carriers of the traits, predict the incidence of traits from breeding programs, and influence medical prognoses and treatments. An overall goal of identifying these genetic mutations is the correction of the defect via gene therapies and designer drug therapies. Thus, genetic testing is an effective preventative medicine and a potential ultimate cure. However, genetic diagnostic tests may still be novel for many veterinary practitioners and their application in the clinical setting needs to have the same scrutiny as any other diagnostic procedure. This article will review the genetic tests for the domestic cat, potential sources of error for genetic testing, and the pros and cons of DNA results in veterinary medicine. Highlighted are genetic tests specific to the individual cat, which are a part of the cat's internal genome.

  11. Genetic aspects of pheochromocytoma.

    Science.gov (United States)

    Kolačkov, Katarzyna; Tupikowski, Krzysztof; Bednarek-Tupikowska, Grażyna

    2012-01-01

    Pheochromocytomas are derived from chromaffin cells of the adrenal medulla which synthesize and secrete catecholamines, thus affecting the cardiovascular system and metabolic processes. Pheochromocytoma is a tumor of the following multicarcinoma hereditary syndromes: type 2 multiple endocrine neoplasia, von Hippel-Lindau disease, type 1 neurofibromatosis and the pheochromocytomas/paragangliomas syndrome. Pheochromocytomas are relatively rare, and because of non-specific manifestation of these tumors and the possible lack of signs and symptoms for extended periods of time, the diagnosis may be delayed, which may, in turn, lead to death. Pheochromocytomas may occur sporadically. However, due to the frequent incidence of hereditary forms of these cancers, the presymptomatic genetic testing of family members with a positive family history is indicated, thus allowing for selecting people with higher risk of cancer. Early detection of the syndrome and the coexisting tumors (which may be malignant) may lead to a correct diagnosis, regular surveillance, preventive examinations and implementation of appropriate early treatment. Recent examinations have shown significant involvement of RET, VHL, NF1, SDHB and SDHD as well as the newly discovered KIF1Bβ, TMEM127 and MAX genes in pathogenesis of these tumors. The microarray-gene expression studies, based on the analysis of cellular pathways, have revealed two distinct clusters indicating two different routes of tumorgenesis. The genotype-phenotype correlations are still being studied and future research can give us clearer information about the function of these genes, which may prove crucial from the clinical point of view.

  12. Correlações genéticas entre características produtivas de fêmeas em um rebanho da raça Canchim Genetic correlations among reproductive and growth traits of females, in a Canchim cattle herd

    Directory of Open Access Journals (Sweden)

    Fernando Molinari Talhari

    2003-08-01

    Full Text Available O objetivo deste trabalho foi estimar as correlações genéticas dos pesos à desmama (PD, aos 12 (P12 e aos 18 (P18 meses de idade com a idade (IPP e o peso (PPP ao primeiro parto, o peso adulto (PAD e os parâmetros A (peso assintótico e k (taxa de maturação da curva de Von Bertalanffy de fêmeas, em um rebanho Canchim. Utilizou-se o método da máxima verossimilhança restrita, em análises bicaráter, com modelos que incluíram os efeitos fixos de grupo de contemporâneos e o efeito aleatório genético aditivo direto. Para PD, o modelo incluiu também a covariável idade da vaca ao parto (efeitos linear e quadrático e os efeitos aleatórios genético aditivo materno e de ambiente permanente. Para PAD, o modelo incluiu também os efeitos fixos de idade da vaca. As médias das estimativas de herdabilidade foram iguais a: 0,37 (PD; 0,31 (P12; 0,35 (P18; 0,39 (A; 0,29 (k; 0,13 (IPP; 0,39 (PPP; e 0,42 (PAD. As correlações genéticas de PD com as outras características foram iguais a: 0,46 (parâmetro A; 0,02 (parâmetro k; -0,12 (IPP; 0,66 (PPP; e 0,42 (PAD. Com P12 as correlações genéticas foram iguais a 0,39 (parâmetro A; 0,31 (parâmetro k; -0,32 (IPP; 0,77 (PPP; e 0,66 (PAD e com P18 foram iguais a 0,21 (parâmetro A; 0,42 (parâmetro k; -0,29 (IPP; 0,65 (PPP; e 0,60 (PAD. Estes resultados indicam que PD, P12, P18, PPP, PAD e os parâmetros A e k das fêmeas possuem variação genética aditiva suficiente para responderem à seleção massal e que a seleção para PD, P12 e P18 deve resultar em respostas correlacionadas desejáveis em IPP e k, mas indesejáveis em PPP e PAD.The objective of this study was to estimate the genetic correlations of female body weights at weaning (BWW, 12 (W12 and 18 (W18 months of age with age at first calving (AFC, body weight at first calving (WFC, adult body weight (ABW, and the parameters for mature weight (A and maturation rate (k obtained using the Von Bertalanffy model, in a Canchim herd. The

  13. Genetic determination of mortality rate in Danish dairy cows

    DEFF Research Database (Denmark)

    Maia, Rafael Pimentel; Ask, Birgitte; Madsen, Per

    2014-01-01

    introduction of genetic material from other populations. The correlations between the sire components for death rate and slaughter rate were negative and small for the 3 populations, suggesting the existence of specific genetic mechanisms for each culling reason and common concurrent genetic mechanisms....... In the Holstein population the effects of the changes in the level of heterozygosity, breed composition and the increasing genetic trend act in the same direction increasing the death rate in the recent years. In the Jersey population, the effects of the level of heterozygosity and the breed proportion were small......, and only the increasing genetic trend can be pointed as a genetic cause to the observed increase in the mortality rate. In the Red Danish population neither the time-development pattern of the genetic trend nor the changes in the level of heterozygosity and breed composition could be causing the observed...

  14. Comparing dependent robust correlations.

    Science.gov (United States)

    Wilcox, Rand R

    2016-11-01

    Let r1 and r2 be two dependent estimates of Pearson's correlation. There is a substantial literature on testing H0  : ρ1  = ρ2 , the hypothesis that the population correlation coefficients are equal. However, it is well known that Pearson's correlation is not robust. Even a single outlier can have a substantial impact on Pearson's correlation, resulting in a misleading understanding about the strength of the association among the bulk of the points. A way of mitigating this concern is to use a correlation coefficient that guards against outliers, many of which have been proposed. But apparently there are no results on how to compare dependent robust correlation coefficients when there is heteroscedasicity. Extant results suggest that a basic percentile bootstrap will perform reasonably well. This paper reports simulation results indicating the extent to which this is true when using Spearman's rho, a Winsorized correlation or a skipped correlation.

  15. Optomechanical Quantum Correlation Thermometry

    Science.gov (United States)

    Purdy, T. P.; Grutter, K. E.; Davanco, M. I.; Srinivasan, K.; Taylor, J. M.

    We present an optomechanical approach for producing accurate thermometry over a wide temperature range using quantum Brownian motion. Optical measurements induce quantum correlations in an optomechanical system when quantum-limited intensity fluctuations of a probe laser drive mechanical motion. The size of the correlations in the weak probe limit are dictated by the scale of individual phonons. We have recently measured optomechanical quantum correlations in the cross correlation spectrum between the amplitude and phase fluctuations of a single probe laser interacting with a silicon nitride optomechanical crystal. These correlations are independent of thermally-induced Brownian motion. However, Brownian motion does simultaneously produce much larger correlation signals between other optical quadratures. A comparison of the size of thermally-induced correlations to quantum correlations allows us to absolutely calibrate Brownian motion thermometry to the mechanical energy quantization scale.

  16. The Correlation Confocal Microscope

    CERN Document Server

    Simon, D S

    2010-01-01

    A new type of confocal microscope is described which makes use of intensity correlations between spatially correlated beams of light. It is shown that this apparatus leads to significantly improved transverse resolution.

  17. DNA pattern recognition using canonical correlation algorithm

    Indian Academy of Sciences (India)

    B K Sarkar; Chiranjib Chakraborty

    2015-10-01

    We performed canonical correlation analysis as an unsupervised statistical tool to describe related views of the same semantic object for identifying patterns. A pattern recognition technique based on canonical correlation analysis (CCA) was proposed for finding required genetic code in the DNA sequence. Two related but different objects were considered: one was a particular pattern, and other was test DNA sequence. CCA found correlations between two observations of the same semantic pattern and test sequence. It is concluded that the relationship possesses maximum value in the position where the pattern exists. As a case study, the potential of CCA was demonstrated on the sequence found from HIV-1 preferred integration sites. The subsequences on the left and right flanking from the integration site were considered as the two views, and statistically significant relationships were established between these two views to elucidate the viral preference as an important factor for the correlation.

  18. Genetic Relationships of Carcass Traits with Retail Cut Productivity of Hanwoo Cattle

    Directory of Open Access Journals (Sweden)

    Daeyoung Koh

    2014-10-01

    Full Text Available This study aimed to estimate genetic correlation between carcass grading and retail productivity traits and to estimate the correlated response on retail productivity traits through selection for carcass grading traits in order to assess the efficacy of indirect selection. Genetic parameters were estimated with the data from 4240 Hanwoo steers using mixed models, and phenotypes included carcass weight (CWT, back fat thickness (BFT, eye muscle area (EMA, marbling (MAR, and estimated lean yield percentage (ELP as the carcass grading traits, and weight and portion of retail cuts (RCW and RCP, trimmed fats (TFW and TFP and trimmed bones (TBW and TBP as the lean productivity traits. The CWT had positive genetic correlations with RCW (0.95 and TFW (0.73, but its genetic correlation with RCP was negligible (0.02. The BFT was negatively correlated with RCP (−0.63, but positively correlated with TFW and TFP (0.77 and 0.70. Genetic correlations of MAR with TFW and TFP were low. Among the carcass grading traits, only EMA was positively correlated with both RCW (0.60 and RCP (0.72. The EMA had a relatively strong negative genetic correlation with TFW (−0.64. The genetic correlation coefficients of ELP with RCP, TFW, and TFP were 0.76, −0.90, and −0.82, respectively. These correlation coefficients suggested that the ELP and EMA might be favorable traits in regulating lean productivity of carcass.

  19. Massively Parallel Genetics.

    Science.gov (United States)

    Shendure, Jay; Fields, Stanley

    2016-06-01

    Human genetics has historically depended on the identification of individuals whose natural genetic variation underlies an observable trait or disease risk. Here we argue that new technologies now augment this historical approach by allowing the use of massively parallel assays in model systems to measure the functional effects of genetic variation in many human genes. These studies will help establish the disease risk of both observed and potential genetic variants and to overcome the problem of "variants of uncertain significance." Copyright © 2016 by the Genetics Society of America.

  20. Primer on genetic counseling.

    Science.gov (United States)

    Hahn, Susan Estabrooks

    2011-04-01

    Once limited to rare mendelian disorders, genetic counseling is playing an ever-increasing role in the multidisciplinary approach to predicting, diagnosing, and managing neurologic disease. However, genetic counseling services may not be optimized because of lack of availability and lack of knowledge regarding when it is appropriate to refer, what occurs in genetic counseling, and how genetic counseling can affect care. These issues are addressed in this article, along with corresponding clinical scenarios. Websites to find genetic counseling services and resources are also provided.

  1. International Correlation Risk

    OpenAIRE

    Philippe Mueller; Andreas Stathopoulos; Andrea Vedolin

    2012-01-01

    Foreign exchange correlation is a key driver of risk premia in the cross-section of carry trade returns. First, we show that the correlation risk premium, defined as the difference between the risk-neutral and objective measure correlation is large (15% per year) and highly time-varying. Second, sorting currencies according to their exposure with correlation innovations yields portfolios with attractive risk and return characteristics. We also find that high (low) interest rate currencies hav...

  2. Correlation in business networks

    Science.gov (United States)

    Souma, Wataru; Aoyama, Hideaki; Fujiwara, Yoshi; Ikeda, Yuichi; Iyetomi, Hiroshi; Kaizoji, Taisei

    2006-10-01

    This paper considers business networks. Through empirical study, we show that business networks display characteristics of small-world networks and scale-free networks. In this paper, we characterize firms as sales and bankruptcy probabilities. A correlation between sales and a correlation between bankruptcy probabilities in business networks are also considered. The results reveal that the correlation between sales depends strongly on the type of network, whereas the correlation between bankruptcy probabilities does so only weakly.

  3. Teager Correlation Function

    DEFF Research Database (Denmark)

    Bysted, Tommy Kristensen; Hamila, R.; Gabbouj, M.

    1998-01-01

    A new correlation function called the Teager correlation function is introduced in this paper. The connection between this function, the Teager energy operator and the conventional correlation function is established. Two applications are presented. The first is the minimization of the Teager error...... norm and the second one is the use of the instantaneous Teager correlation function for simultaneous estimation of TDOA and FDOA (Time and Frequency Difference of Arrivals)....

  4. How Is Genetic Testing Done?

    Science.gov (United States)

    ... Testing How is genetic testing done? How is genetic testing done? Once a person decides to proceed with ... is called informed consent . For more information about genetic testing procedures: The National Society of Genetic Counselors offers ...

  5. Universal correlators from geometry

    Energy Technology Data Exchange (ETDEWEB)

    Dijkgraaf, Robbert [Institute for Theoretical Physics, University of Amsterdam, Valckenierstraat 65, 1018 XE Amsterdam (Netherlands); Korteweg-de Vries Institute for Mathematics, University of Amsterdam, Valckenierstraat 65, 1018 XE Amsterdam (Netherlands); Temuerhan, Mine; Sinkovics, Annamaria [Institute for Theoretical Physics, University of Amsterdam, Valckenierstraat 65, 1018 XE Amsterdam (Netherlands)]. E-mail: sinkovic@science.uva.nl

    2004-11-01

    Matrix model correlators show universal behaviour at short distances. We provide a derivation for these universal correlators by inserting probe branes in the underlying effective geometry. We generalize these results to study correlators of branes and their universal behaviour in the Calabi-Yau crystals, where we find a role for a generalized brane insertion. (author)

  6. Universal Correlators from Geometry

    Science.gov (United States)

    Dijkgraaf, Robbert; Sinkovics, Annamaria; Temurhan, Mine

    2004-11-01

    Matrix model correlators show universal behaviour at short distances. We provide a derivation for these universal correlators by inserting probe branes in the underlying effective geometry. We generalize these results to study correlators of branes and their universal behaviour in the Calabi-Yau crystals, where we find a role for a generalized brane insertion.

  7. Universal Correlators from Geometry

    CERN Document Server

    Dijkgraaf, R; Temurhan, M; Dijkgraaf, Robbert; Sinkovics, Annamaria; Temurhan, Mine

    2004-01-01

    Matrix model correlators show universal behaviour at short distances. We provide a derivation for these universal correlators by inserting probe branes in the underlying effective geometry. We generalize these results to study correlators of branes and their universal behaviour in the Calabi-Yau crystals, where we find a role for a generalized brane insertion.

  8. Modified Biserial Correlation Coefficients.

    Science.gov (United States)

    Kraemer, Helena Chmura

    1981-01-01

    Asymptotic distribution theory of Brogden's form of biserial correlation coefficient is derived and large sample estimates of its standard error obtained. Its relative efficiency to the biserial correlation coefficient is examined. Recommendations for choice of estimator of biserial correlation are presented. (Author/JKS)

  9. BPA genetic monitoring - BPA Genetic Monitoring Project

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Initiated in 1989, this study monitors genetic changes associated with hatchery propagation in multiple Snake River sub-basins for Chinook salmon and steelhead. We...

  10. Molecular genetics made simple

    Directory of Open Access Journals (Sweden)

    Heba Sh. Kassem

    2012-07-01

    Full Text Available Genetics have undoubtedly become an integral part of biomedical science and clinical practice, with important implications in deciphering disease pathogenesis and progression, identifying diagnostic and prognostic markers, as well as designing better targeted treatments. The exponential growth of our understanding of different genetic concepts is paralleled by a growing list of genetic terminology that can easily intimidate the unfamiliar reader. Rendering genetics incomprehensible to the clinician however, defeats the very essence of genetic research: its utilization for combating disease and improving quality of life. Herein we attempt to correct this notion by presenting the basic genetic concepts along with their usefulness in the cardiology clinic. Bringing genetics closer to the clinician will enable its harmonious incorporation into clinical care, thus not only restoring our perception of its simple and elegant nature, but importantly ensuring the maximal benefit for our patients.

  11. Genetic interest assessment

    Science.gov (United States)

    Doughney, Erin

    Genetics is becoming increasingly integrated into peoples' lives. Different measures have been taken to try and better genetics education. This thesis examined undergraduate students at the University of North Texas not majoring in the life sciences interest in genetic concepts through the means of a Likert style survey. ANOVA analysis showed there was variation amongst the interest level in different genetic concepts. In addition age and lecture were also analyzed as contributing factors to students' interest. Both age and lecture were evaluated to see if they contributed to the interest of students in genetic concepts and neither showed statistical significance. The Genetic Interest Assessment (GIA) serves to help mediate the gap between genetic curriculum and students' interest.

  12. Rewriting the Genetic Code.

    Science.gov (United States)

    Mukai, Takahito; Lajoie, Marc J; Englert, Markus; Söll, Dieter

    2017-09-08

    The genetic code-the language used by cells to translate their genomes into proteins that perform many cellular functions-is highly conserved throughout natural life. Rewriting the genetic code could lead to new biological functions such as expanding protein chemistries with noncanonical amino acids (ncAAs) and genetically isolating synthetic organisms from natural organisms and viruses. It has long been possible to transiently produce proteins bearing ncAAs, but stabilizing an expanded genetic code for sustained function in vivo requires an integrated approach: creating recoded genomes and introducing new translation machinery that function together without compromising viability or clashing with endogenous pathways. In this review, we discuss design considerations and technologies for expanding the genetic code. The knowledge obtained by rewriting the genetic code will deepen our understanding of how genomes are designed and how the canonical genetic code evolved.

  13. A behavioral genetic study of the dark triad of personality and moral development.

    Science.gov (United States)

    Campbell, Jennifer; Schermer, Julie Aitken; Villani, Vanessa C; Nguyen, Brenda; Vickers, Leanne; Vernon, Philip A

    2009-04-01

    The present study is the first behavioral genetic investigation of relationships between the Dark Triad of personality--Machiavellianism, narcissism, and subclinical psychopathy--and moral development. Participants were 154 monozygotic twin pairs and 82 same-sex dizygotic twin pairs. Higher scores on Machiavellianism and psychopathy were positively correlated with low levels of moral development; high psychopathy scores also correlated negatively with high levels of moral development. Individual differences in lower levels of moral development were attributable to genetic and nonshared environmental factors but, very interestingly, individual differences in the highest levels of moral development showed no genetic basis but were entirely attributable to shared and nonshared environmental factors. Finally, correlations between the Dark Triad and moral development variables showed no genetic basis while correlations among the moral development variables were variously attributable to correlated genetic and correlated environmental factors.

  14. The genetics of maternal care: direct and indirect genetic effects on phenotype in the dung beetle Onthophagus taurus.

    Science.gov (United States)

    Hunt, John; Simmons, Leigh W

    2002-05-14

    While theoretical models of the evolution of parental care are based on the assumption of underlying genetic variance, surprisingly few quantitative genetic studies of this life-history trait exist. Estimation of the degree of genetic variance in parental care is important because it can be a significant source of maternal effects, which, if genetically based, represent indirect genetic effects. A major prediction of indirect genetic effect theory is that traits without heritable variation can evolve because of the heritable environmental variation that indirect genetic effects provide. In the dung beetle, Onthophagus taurus, females provide care to offspring by provisioning a brood mass. The size of the brood mass has pronounced effects on offspring phenotype. Using a half-sib breeding design we show that the weight of the brood mass females produce exhibits significant levels of additive genetic variance due to sires. However, variance caused by dams is considerably larger, demonstrating that maternal effects are also important. Body size exhibited low additive genetic variance. However, body size exerts a strong maternal influence on the weight of brood masses produced, accounting for 22% of the nongenetic variance in offspring body size. Maternal body size also influenced the number of offspring produced but there was no genetic variance for this trait. Offspring body size and brood mass weight exhibited positive genetic and phenotypic correlations. We conclude that both indirect genetic effects, via maternal care, and nongenetic maternal effects, via female size, play important roles in the evolution of phenotype in this species.

  15. Correlations in Werner States

    Institute of Scientific and Technical Information of China (English)

    DONG Li; LUO Shun-Long; XIU Xiao-Ming; LI Nan; GAO Ya-Jun; CHI Feng

    2008-01-01

    Werner states are paradigmatic examples of quantum states and play an innovative role in quantum information theory. In investigating the correlating capability of Werner states, we find the curious phenomenon that quantum correlations, as quantified by the entanglement of formation, may exceed the total correlations, as measured by the quantum mutual information. Consequently, though the entanglement of formation is so widely used in quantifying entanglement, it cannot be interpreted as a consistent measure of quantum correlations per se if we accept the folklore that total correlations are measured (or rather upper bounded) by the quantum mutual information.

  16. Experimental fully contextual correlations

    CERN Document Server

    Amselem, Elias; Lopez-Tarrida, Antonio J; Portillo, Jose R; Bourennane, Mohamed; Cabello, Adan

    2011-01-01

    Quantum correlations are contextual yet, in general, nothing prevents the existence of even more contextual correlations. We identify and test a simple noncontextual inequality in which the quantum violation cannot be improved by any hypothetical post-quantum resource, and use it to experimentally obtain correlations in which the maximum noncontextual content, defined as the maximum fraction of noncontextual correlations, is less than 0.06. Our correlations are experimentally generated from the outcomes of sequential compatible measurements on a four-state quantum system encoded in the polarization and path of a single photon.

  17. Molecular Population Genetics

    Science.gov (United States)

    Casillas, Sònia; Barbadilla, Antonio

    2017-01-01

    Molecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide sequencing era, and is currently in the era of population genomics. During this period, molecular population genetics has been revolutionized by progress in data acquisition and theoretical developments. The conceptual elegance of the neutral theory of molecular evolution or the footprint carved by natural selection on the patterns of genetic variation are two examples of the vast number of inspiring findings of population genetics research. Since the inception of the field, Drosophila has been the prominent model species: molecular variation in populations was first described in Drosophila and most of the population genetics hypotheses were tested in Drosophila species. In this review, we describe the main concepts, methods, and landmarks of molecular population genetics, using the Drosophila model as a reference. We describe the different genetic data sets made available by advances in molecular technologies, and the theoretical developments fostered by these data. Finally, we review the results and new insights provided by the population genomics approach, and conclude by enumerating challenges and new lines of inquiry posed by increasingly large population scale sequence data. PMID:28270526

  18. Molecular Population Genetics.

    Science.gov (United States)

    Casillas, Sònia; Barbadilla, Antonio

    2017-03-01

    Molecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide sequencing era, and is currently in the era of population genomics. During this period, molecular population genetics has been revolutionized by progress in data acquisition and theoretical developments. The conceptual elegance of the neutral theory of molecular evolution or the footprint carved by natural selection on the patterns of genetic variation are two examples of the vast number of inspiring findings of population genetics research. Since the inception of the field, Drosophila has been the prominent model species: molecular variation in populations was first described in Drosophila and most of the population genetics hypotheses were tested in Drosophila species. In this review, we describe the main concepts, methods, and landmarks of molecular population genetics, using the Drosophila model as a reference. We describe the different genetic data sets made available by advances in molecular technologies, and the theoretical developments fostered by these data. Finally, we review the results and new insights provided by the population genomics approach, and conclude by enumerating challenges and new lines of inquiry posed by increasingly large population scale sequence data. Copyright © 2017 Casillas and Barbadilla.

  19. Genetic Effects on Fine-Grained Human Cortical Regionalization.

    Science.gov (United States)

    Cui, Yue; Liu, Bing; Zhou, Yuan; Fan, Lingzhong; Li, Jin; Zhang, Yun; Wu, Huawang; Hou, Bing; Wang, Chao; Zheng, Fanfan; Qiu, Chengxiang; Rao, Li-Lin; Ning, Yuping; Li, Shu; Jiang, Tianzi

    2016-09-01

    Various brain structural and functional features such as cytoarchitecture, topographic mapping, gyral/sulcal anatomy, and anatomical and functional connectivity have been used in human brain parcellation. However, the fine-grained intrinsic genetic architecture of the cortex remains unknown. In the present study, we parcellated specific regions of the cortex into subregions based on genetic correlations (i.e., shared genetic influences) between the surface area of each pair of cortical locations within the seed region. The genetic correlations were estimated by comparing the correlations of the surface area between monozygotic and dizygotic twins using bivariate twin models. Our genetic subdivisions of diverse brain regions were reproducible across 2 independent datasets and corresponded closely to fine-grained functional specializations. Furthermore, subregional genetic correlation profiles were generally consistent with functional connectivity patterns. Our findings indicate that the magnitude of the genetic covariance in brain anatomy could be used to delineate the boundaries of functional subregions of the brain and may be of value in the next generation human brain atlas.

  20. Distinct Genetic Influences on Cortical and Subcortical Brain Structures

    Science.gov (United States)

    Wen, Wei; Thalamuthu, Anbupalam; Mather, Karen A.; Zhu, Wanlin; Jiang, Jiyang; de Micheaux, Pierre Lafaye; Wright, Margaret J.; Ames, David; Sachdev, Perminder S.

    2016-09-01

    This study examined the heritability of brain grey matter structures in a subsample of older adult twins (93 MZ and 68 DZ twin pairs; mean age 70 years) from the Older Australian Twins Study. The heritability estimates of subcortical regions ranged from 0.41 (amygdala) to 0.73 (hippocampus), and of cortical regions, from 0.55 (parietal lobe) to 0.78 (frontal lobe). Corresponding structures in the two hemispheres were influenced by the same genetic factors and high genetic correlations were observed between the two hemispheric regions. There were three genetically correlated clusters, comprising (i) the cortical lobes (frontal, temporal, parietal and occipital lobes); (ii) the basal ganglia (caudate, putamen and pallidum) with weak genetic correlations with cortical lobes, and (iii) the amygdala, hippocampus, thalamus and nucleus accumbens grouped together, which genetically correlated with both basal ganglia and cortical lobes, albeit relatively weakly. Our study demonstrates a complex but patterned and clustered genetic architecture of the human brain, with divergent genetic determinants of cortical and subcortical structures, in particular the basal ganglia.

  1. Genetic parameters for body weight in meat quail.

    Science.gov (United States)

    Barbieri, A; Ono, R K; Cursino, L L; Farah, M M; Pires, M P; Bertipaglia, T S; Pires, A V; Cavani, L; Carreño, L O D; Fonseca, R

    2015-02-01

    The aim of this study was to estimate genetic parameters for BW in meat quail at different ages. A total of 24,382 weight records from 3,652 quail, born between 2009 and 2011, were evaluated. Weekly BW was measured from hatch until 42 d of age. The genetic parameters were estimated by the restricted maximum likelihood method using a multivariate animal model. Heritability of BW ranged from 0.03 to 0.23. Genetic correlations were mainly high and positive. Selection for BW at 28 d of age yielded good indirect genetic progress in BW at 42 d of age.

  2. Genetic and environmental influences of surfactant protein D serum levels

    DEFF Research Database (Denmark)

    Sørensen, Grith Lykke; Hjelmborg, Jacob v. B.; Kyvik, Kirsten Ohm

    2006-01-01

    defining the constitutional serum level of SP-D and determine the magnitude of the genetic contribution to serum SP-D in the adult population. Recent studies have demonstrated that serum SP-D concentrations in children are genetically determined and that a single nucleotide polymorphism (SNP) located...... correlation was significantly higher for monozygotic (MZ) twin pairs than for dizygotic (DZ) twin pairs. Serum SP-D variance was influenced by nonshared environmental effects and additive genetic effects. Multivariate analysis of MZ and DZ covariance matrixes showed significant genetic correlation among serum...... SP-D and metabolic variables. The Met11Thr variant explained a significant part of the heritability indicating that serum SP-D variance could be decomposed into non-shared environmental effects (e(2) = 0.19), additive genetic effects (h(2) = 0.42), and the effect of the Met11Thr variations (q(2) = 0.39)....

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

    NARCIS (Netherlands)

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

    2011-01-01

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

  4. The Neurogenetic Correlates of Consciousness

    Science.gov (United States)

    Grandy, John K.

    2013-09-01

    The neurogenetic correlates of consciousness (NgCC) is a new field of consciousness studies that focuses on genes that have an effect on or are involved in the continuum of neuron-based consciousness. A framework of consciousness based on the neural correlates of consciousness (NCC) has already been established by Francis Crick and Christof Kock. In this work I propose that there are NgCC underlying the NCC which are both active during the conscious experience. So how are genes involved? There are two significant connections between DNA and neurons that are involved in the conscious experience. First, any brain system can be adversely affected by underlying genetic abnormalities which can be expressed in an individual at birth, in adulthood, or later in life. Second, the DNA molecule does not lay dormant while the neuron runs on autopilot. DNA is active in translating and transcribing RNA and protein products that are utilized during neuron functioning. Without these products being continuously produced by the DNA during a conscious experience the neurons would cease to function correctly and be rendered unable to provide a continuum of human consciousness. Consequently, in addition to NCC, NgCC must be factored in when appreciating a conscious event. In this work I will discuss and explain some NgCC citing several examples.

  5. Genetic Susceptibility to Atherosclerosis

    Directory of Open Access Journals (Sweden)

    Sanja Kovacic

    2012-01-01

    Full Text Available Atherosclerosis is a complex multifocal arterial disease involving interactions of multiple genetic and environmental factors. Advances in techniques of molecular genetics have revealed that genetic ground significantly influences susceptibility to atherosclerotic vascular diseases. Besides further investigations of monogenetic diseases, candidate genes, genetic polymorphisms, and susceptibility loci associated with atherosclerotic diseases have been identified in recent years, and their number is rapidly increasing. This paper discusses main genetic investigations fields associated with human atherosclerotic vascular diseases. The paper concludes with a discussion of the directions and implications of future genetic research in arteriosclerosis with an emphasis on prospective prediction from an early age of individuals who are predisposed to develop premature atherosclerosis as well as to facilitate the discovery of novel drug targets.

  6. Genetic Pathways to Insomnia

    Directory of Open Access Journals (Sweden)

    Mackenzie J. Lind

    2016-12-01

    Full Text Available This review summarizes current research on the genetics of insomnia, as genetic contributions are thought to be important for insomnia etiology. We begin by providing an overview of genetic methods (both quantitative and measured gene, followed by a discussion of the insomnia genetics literature with regard to each of the following common methodologies: twin and family studies, candidate gene studies, and genome-wide association studies (GWAS. Next, we summarize the most recent gene identification efforts (primarily GWAS results and propose several potential mechanisms through which identified genes may contribute to the disorder. Finally, we discuss new genetic approaches and how these may prove useful for insomnia, proposing an agenda for future insomnia genetics research.

  7. PCR in forensic genetics

    DEFF Research Database (Denmark)

    Morling, Niels

    2009-01-01

    Since the introduction in the mid-1980s of analyses of minisatellites for DNA analyses, a revolution has taken place in forensic genetics. The subsequent invention of the PCR made it possible to develop forensic genetics tools that allow both very informative routine investigations and still more...... and more advanced, special investigations in cases concerning crime, paternity, relationship, disaster victim identification etc. The present review gives an update on the use of DNA investigations in forensic genetics....

  8. Genetics of stroke

    OpenAIRE

    Guo, Jin-Min; Liu, Ai-Jun; Su, Ding-Feng

    2010-01-01

    Stroke is the second most common cause of death and the most common cause of disability in developed countries. Stroke is a multi-factorial disease caused by a combination of environmental and genetic factors. Numerous epidemiologic studies have documented a significant genetic component in the occurrence of strokes. Genes encoding products involved in lipid metabolism, thrombosis, and inflammation are believed to be potential genetic factors for stroke. Although a large group of candidate ge...

  9. Genetics of mental retardation

    OpenAIRE

    Ahuja A; Thapar Anita; Owen M

    2005-01-01

    Mental retardation can follow any of the biological, environmental and psychological events that are capable of producing deficits in cognitive functions. Recent advances in molecular genetic techniques have enabled us to understand more about the molecular basis of several genetic syndromes associated with mental retardation. In contrast, where there is no discrete cause, the interplay of genetic and environmental influences remains poorly understood. This article presents a critical review ...

  10. Genetic toxicology: web resources.

    Science.gov (United States)

    Young, Robert R

    2002-04-25

    Genetic toxicology is the scientific discipline dealing with the effects of chemical, physical and biological agents on the heredity of living organisms. The Internet offers a wide range of online digital resources for the field of Genetic Toxicology. The history of genetic toxicology and electronic data collections are reviewed. Web-based resources at US National Library of Medicine (NLM), including MEDLINE, PUBMED, Gateway, Entrez, and TOXNET, are discussed. Search strategies and Medical Subject Headings (MeSH) are reviewed in the context of genetic toxicology. The TOXNET group of databases are discussed with emphasis on those databases with genetic toxicology content including GENE-TOX, TOXLINE, Hazardous Substances Data Bank, Integrated Risk Information System, and Chemical Carcinogenesis Research Information System. Location of chemical information including chemical structure and linkage to health and regulatory information using CHEMIDPLUS at NLM and other databases is reviewed. Various government agencies have active genetic toxicology research programs or use genetic toxicology data to assist fulfilling the agency's mission. Online resources at the US Food and Drug Administration (FDA), the US Environmental Protection Agency (EPA), the National Institutes of Environmental Health Sciences, and the National Toxicology Program (NTP) are outlined. Much of the genetic toxicology for pharmaceuticals, industrial chemicals and pesticides that is performed in the world is regulatory-driven. Regulatory web resources are presented for the laws mandating testing, guidelines on study design, Good Laboratory Practice (GLP) regulations, and requirements for electronic data collection and reporting. The Internet provides a range of other supporting resources to the field of genetic toxicology. The web links for key professional societies and journals in genetic toxicology are listed. Distance education, educational media resources, and job placement services are also

  11. Genetic diversity of Poa pratensis L. depending on geographical origin and compared with genetic markers

    Directory of Open Access Journals (Sweden)

    Magdalena Szenejko

    2016-09-01

    Full Text Available Background Poa pratensis is one of the most common species of meadow grass in Europe. Most cultivars of the species found in Poland were originally derived from its ecotypes. We compared the effectiveness of the RAPD and ISSR methods in assessing the genetic diversity of the selected populations of P. pratensis. We examined whether these methods could be useful for detecting a possible link between the geographical origin of a given population and its assessed genetic variation. Methods The molecular markers RAPD and ISSR were used and their efficiency compared using, inter alia, statistical multivariate methods (UPGMA and PCA. Results The low value of Dice’s coefficient (0.369 along with the significantly high percentage of polymorphic products indicates a substantial degree of genetic diversity among the studied populations. Our results found a correlation between the geographical origin of the studied populations and their genetic variations. For ISSR, which proved to be the more effective method in that respect, we selected primers with the greatest differentiating powers correlating to geographical origin. Discussion The populations evaluated in this study were characterized by a high genetic diversity. This seems to confirm the hypothesis that ecotypes of P. pratensis originating from different regions of Central Europe with different terrain structures and habitat conditions can be a source of great genetic variability.

  12. Genetics of complex diseases

    DEFF Research Database (Denmark)

    Mellerup, Erling; Møller, Gert Lykke; Koefoed, Pernille

    2012-01-01

    A complex disease with an inheritable component is polygenic, meaning that several different changes in DNA are the genetic basis for the disease. Such a disease may also be genetically heterogeneous, meaning that independent changes in DNA, i.e. various genotypes, can be the genetic basis...... for the disease. Each of these genotypes may be characterized by specific combinations of key genetic changes. It is suggested that even if all key changes are found in genes related to the biology of a certain disease, the number of combinations may be so large that the number of different genotypes may be close...

  13. Genetics Home Reference: abetalipoproteinemia

    Science.gov (United States)

    ... Betalipoprotein Deficiency Disease Congenital betalipoprotein deficiency syndrome Microsomal Triglyceride Transfer Protein Deficiency Disease Related Information How are genetic conditions and genes ...

  14. Parasomnias: co-occurrence and genetics.

    Science.gov (United States)

    Hublin, C; Kaprio, J; Partinen, M; Koskenvu, M

    2001-06-01

    In clinical practice, parasomnias are often found to run in families and to co-occur. Several studies have indicated a role of genetic factors in them. In 1990, a questionnaire (response rate, 77%) sent to the Finnish Twin Cohort, a representative population sample aged 33-60 years, surveyed the frequency of five parasomnias (sleepwalking, sleeptalking, enuresis, bruxism, and nightmares) in childhood and as adults. In assessing the phenotypic covariation and shared genetic effects between the parasomnias, we used polychoric correlations and structural equation modelling. In childhood (n = 5856 individuals), co-occurrence is highest in sleeptalking with sleepwalking (R = 0.73), nightmares (R = 0.50), and bruxism (R = 0.43). As adults (n = 8567), the results are similar (R = 0.56, 0.43, and 0.39, respectively). The analyses of shared genetic effects included 815 monozygotic and 1442 dizygotic twin pairs with complete responses on four parasomnias as adults. The strongest genetic covariation was found in sleeptalking with sleepwalking, sleeptalking with bruxism, and in sleeptalking with nightmares. The estimated proportions of shared genetic effects were 50, 30, and 26%, respectively. The present results indicate that parasomnias share some common genetic background.

  15. Evolutionary quantitative genetics of nonlinear developmental systems.

    Science.gov (United States)

    Morrissey, Michael B

    2015-08-01

    In quantitative genetics, the effects of developmental relationships among traits on microevolution are generally represented by the contribution of pleiotropy to additive genetic covariances. Pleiotropic additive genetic covariances arise only from the average effects of alleles on multiple traits, and therefore the evolutionary importance of nonlinearities in development is generally neglected in quantitative genetic views on evolution. However, nonlinearities in relationships among traits at the level of whole organisms are undeniably important to biology in general, and therefore critical to understanding evolution. I outline a system for characterizing key quantitative parameters in nonlinear developmental systems, which yields expressions for quantities such as trait means and phenotypic and genetic covariance matrices. I then develop a system for quantitative prediction of evolution in nonlinear developmental systems. I apply the system to generating a new hypothesis for why direct stabilizing selection is rarely observed. Other uses will include separation of purely correlative from direct and indirect causal effects in studying mechanisms of selection, generation of predictions of medium-term evolutionary trajectories rather than immediate predictions of evolutionary change over single generation time-steps, and the development of efficient and biologically motivated models for separating additive from epistatic genetic variances and covariances.

  16. Genetic Heterogeneity in Algerian Human Populations.

    Science.gov (United States)

    Bekada, Asmahan; Arauna, Lara R; Deba, Tahria; Calafell, Francesc; Benhamamouch, Soraya; Comas, David

    2015-01-01

    The demographic history of human populations in North Africa has been characterized by complex processes of admixture and isolation that have modeled its current gene pool. Diverse genetic ancestral components with different origins (autochthonous, European, Middle Eastern, and sub-Saharan) and genetic heterogeneity in the region have been described. In this complex genetic landscape, Algeria, the largest country in Africa, has been poorly covered, with most of the studies using a single Algerian sample. In order to evaluate the genetic heterogeneity of Algeria, Y-chromosome, mtDNA and autosomal genome-wide makers have been analyzed in several Berber- and Arab-speaking groups. Our results show that the genetic heterogeneity found in Algeria is not correlated with geography or linguistics, challenging the idea of Berber groups being genetically isolated and Arab groups open to gene flow. In addition, we have found that external sources of gene flow into North Africa have been carried more often by females than males, while the North African autochthonous component is more frequent in paternally transmitted genome regions. Our results highlight the different demographic history revealed by different markers and urge to be cautious when deriving general conclusions from partial genomic information or from single samples as representatives of the total population of a region.

  17. Particle Correlations at LEP

    CERN Document Server

    Kress, Thomas

    2002-01-01

    Particle correlations are extensively studied to obtain information about the dynamics of hadron production. From 1989 to 2000 the four LEP collaborations recorded more than 16 million hadronic Z0 decays and several thousand W+W- events. In Z0 decays, two-particle correlations were analysed in detail to study Bose-Einstein and Fermi-Dirac correlations for various particle species. In fully-hadronic W+W- decays, particle correlations were used to study whether the two W bosons decay independently. A review of selected results is presented.

  18. Learning efficient correlated equilibria

    KAUST Repository

    Borowski, Holly P.

    2014-12-15

    The majority of distributed learning literature focuses on convergence to Nash equilibria. Correlated equilibria, on the other hand, can often characterize more efficient collective behavior than even the best Nash equilibrium. However, there are no existing distributed learning algorithms that converge to specific correlated equilibria. In this paper, we provide one such algorithm which guarantees that the agents\\' collective joint strategy will constitute an efficient correlated equilibrium with high probability. The key to attaining efficient correlated behavior through distributed learning involves incorporating a common random signal into the learning environment.

  19. Correlation Functions and Spin

    CERN Document Server

    Tyc, T

    2000-01-01

    The k-electron correlation function of a free chaotic electron beam is derived with the spin degree of freedom taken into account. It is shown that it can be expressed with the help of correlation functions for a polarized electron beam of all orders up to k and the degree of spin polarization. The form of the correlation function suggests that if the electron beam is not highly polarized, observing multi-particle correlations should be difficult. The result can be applied also to chaotic photon beams, the degree of spin polarization being replaced by the degree of polarization.

  20. Genetic Programming and Genetic Algorithms for Propositions

    Directory of Open Access Journals (Sweden)

    Nabil M. HEWAHI

    2012-01-01

    Full Text Available In this paper we propose a mechanism to discover the compound proposition solutions for a given truth table without knowing the compound propositions that lead to the truth table results. The approach is based on two proposed algorithms, the first is called Producing Formula (PF algorithm which is based on the genetic programming idea, to find out the compound proposition solutions for the given truth table. The second algorithm is called the Solutions Optimization (SO algorithm which is based on genetic algorithms idea, to find a list of the optimum compound propositions that can solve the truth table. The obtained list will depend on the solutions obtained from the PF algorithm. Various types of genetic operators have been introduced to obtain the solutions either within the PF algorithm or SO algorithm.

  1. Judaism, genetic screening and genetic therapy.

    Science.gov (United States)

    Rosner, F

    1998-01-01

    Genetic screening, gene therapy and other applications of genetic engineering are permissible in Judaism when used for the treatment, cure, or prevention of disease. Such genetic manipulation is not considered to be a violation of God's natural law, but a legitimate implementation of the biblical mandate to heal. If Tay-Sachs disease, diabetes, hemophilia, cystic fibrosis, Huntington's disease or other genetic diseases can be cured or prevented by "gene surgery," then it is certainly permitted in Jewish law. Genetic premarital screening is encouraged in Judaism for the purpose of discouraging at-risk marriages for a fatal illness such as Tay-Sachs disease. Neonatal screening for treatable conditions such as phenylketonuria is certainly desirable and perhaps required in Jewish law. Preimplantation screening and the implantation of only "healthy" zygotes into the mother's womb to prevent the birth of an affected child are probably sanctioned in Jewish law. Whether or not these assisted reproduction techniques may be used to choose the sex of one's offspring, to prevent the birth of a child with a sex-linked disease such as hemophilia, has not yet been ruled on by modern rabbinic decisions. Prenatal screening with the specific intent of aborting an affected fetus is not allowed according to most rabbinic authorities, although a minority view permits it "for great need." Not to have children if both parents are carriers of genetic diseases such as Tay-Sachs is not a Jewish option. Preimplantation screening is preferable. All screening test results must remain confidential. Judaism does not permit the alteration or manipulation of physical traits and characteristics such as height, eye and hair color, facial features and the like, when such change provides no useful benefit to mankind. On the other hand, it is permissible to clone organisms and microorganisms to facilitate the production of insulin, growth hormone, and other agents intended to benefit mankind and to

  2. Genetic parameter and correlation estimates of processing traits in half-sib progenies of tropical-adapted carrot germplasm Parâmetros genéticos e correlações entre características para processamento em progênies de meios-irmãos de germoplasma de cenoura tropical

    Directory of Open Access Journals (Sweden)

    Jairo V Vieira

    2012-03-01

    Full Text Available The estimate of the genetic parameters associated with processing (fresh-cut traits, including root length (RL, is crucial for carrot breeding programs in tropical areas. The cultivar Alvorada is an important germplasm due to its resistance to nematodes, leaf blight, heat-tolerance, and high carotenoid content. Seventy-four 'Alvorada' half-sib progenies were evaluated during the summer of 2005 in the Federal District, Brazil, in a randomized complete block design with three replications. Thirteen competitive plants in each block were randomly selected and evaluated and/or classified for RL and for number of leaves (NL, leaf length (LL, root tip type (RT, root mass (RW, crown shape (CS, root diameter (RD, and xylem diameter (XD. The Pearson's correlation coefficients and the heritability values were estimated for all traits. The path analysis was also used considering the RL trait as dependent variable. The heritability for RL ranged from 12 to 44%. For the other traits, the values ranged from 3% (RD to 79% (LL. Phenotypic and genotypic correlations among all traits were low to intermediate. Path analysis indicated positive direct relationship between RL and RW, whereas RD and XD displayed negative direct effect on RL. Longer roots had narrow diameter and narrow XD. Recurrent selection based upon either half-sib or S1 families would be more effective than mass phenotypic recurrent selection in increasing RL and to develop populations expressing multiple desirable processing traits in tropical-adapted carrot germplasm.A estimativa de parâmetros genéticos associados com caracteres de processamento industrial, incluindo comprimento de raiz (RL, é crucial para programas de melhoramento de cenoura para áreas tropicais. A cultivar Alvorada é um importante germoplasma devido à sua resistência a nematóides e queima-das-folhas, tolerância ao calor e alto conteúdo de carotenóides. Setenta e quatro progênies meio-irmãs derivadas de 'Alvorada

  3. Landscape genetics and the spatial distribution of chronic wasting disease.

    Science.gov (United States)

    Blanchong, Julie A; Samuel, Michael D; Scribner, Kim T; Weckworth, Byron V; Langenberg, Julia A; Filcek, Kristine B

    2008-02-23

    Predicting the spread of wildlife disease is critical for identifying populations at risk, targeting surveillance and designing proactive management programmes. We used a landscape genetics approach to identify landscape features that influenced gene flow and the distribution of chronic wasting disease (CWD) in Wisconsin white-tailed deer. CWD prevalence was negatively correlated with genetic differentiation of study area deer from deer in the area of disease origin (core-area). Genetic differentiation was greatest, and CWD prevalence lowest, in areas separated from the core-area by the Wisconsin River, indicating that this river reduced deer gene flow and probably disease spread. Features of the landscape that influence host dispersal and spatial patterns of disease can be identified based on host spatial genetic structure. Landscape genetics may be used to predict high-risk populations based on their genetic connection to infected populations and to target disease surveillance, control and preventative activities.

  4. Landscape genetics and the spatial distribution of chronic wasting disease

    Science.gov (United States)

    Blanchong, Julie A.; Samuel, M.D.; Scribner, K.T.; Weckworth, B.V.; Langenberg, J.A.; Filcek, K.B.

    2008-01-01

    Predicting the spread of wildlife disease is critical for identifying populations at risk, targeting surveillance and designing proactive management programmes. We used a landscape genetics approach to identify landscape features that influenced gene flow and the distribution of chronic wasting disease (CWD) in Wisconsin white-tailed deer. CWD prevalence was negatively correlated with genetic differentiation of study area deer from deer in the area of disease origin (core-area). Genetic differentiation was greatest, and CWD prevalence lowest, in areas separated from the core-area by the Wisconsin River, indicating that this river reduced deer gene flow and probably disease spread. Features of the landscape that influence host dispersal and spatial patterns of disease can be identified based on host spatial genetic structure. Landscape genetics may be used to predict high-risk populations based on their genetic connection to infected populations and to target disease surveillance, control and preventative activities. ?? 2007 The Royal Society.

  5. Assessment of Genetic Diversity and Population Genetic Structure of Corylus mandshurica in China Using SSR Markers.

    Directory of Open Access Journals (Sweden)

    Jian-Wei Zong

    Full Text Available Corylus mandshurica, also known as pilose hazelnut, is an economically and ecologically important species in China. In this study, ten polymorphic simple sequence repeat (SSR markers were applied to evaluate the genetic diversity and population structure of 348 C. mandshurica individuals among 12 populations in China. The SSR markers expressed a relatively high level of genetic diversity (Na = 15.3, Ne = 5.6604, I = 1.8853, Ho = 0.6668, and He = 0.7777. According to the coefficient of genetic differentiation (Fst = 0.1215, genetic variation within the populations (87.85% were remarkably higher than among populations (12.15%. The average gene flow (Nm = 1.8080 significantly impacts the genetic structure of C. mandshurica populations. The relatively high gene flow (Nm = 1.8080 among wild C. mandshurica may be caused by wind-pollinated flowers, highly nutritious seeds and self-incompatible mating system. The UPGMA (unweighted pair group method of arithmetic averages dendrogram was divided into two main clusters. Moreover, the results of STRUCTURE analysis suggested that C. mandshurica populations fell into two main clusters. Comparison of the UPGMA dendrogram and the Bayesian STRUCTURE analysis showed general agreement between the population subdivisions and the genetic relationships among populations of C. mandshurica. Group I accessions were located in Northeast China, while Group II accessions were in North China. It is worth noting that a number of genetically similar populations were located in the same geographic region. The results further showed that there was obvious genetic differentiation among populations from Northeast China to North China. Results from the Mantel test showed a weak but still significant positive correlation between Nei's genetic distance and geographic distance (km among populations (r = 0.419, P = 0.005, suggesting that genetic differentiation in the 12 C. mandshurica populations might be related to geographic

  6. Functional-mixed effects models for candidate genetic mapping in imaging genetic studies.

    Science.gov (United States)

    Lin, Ja-An; Zhu, Hongtu; Mihye, Ahn; Sun, Wei; Ibrahim, Joseph G

    2014-12-01

    The aim of this paper is to develop a functional-mixed effects modeling (FMEM) framework for the joint analysis of high-dimensional imaging data in a large number of locations (called voxels) of a three-dimensional volume with a set of genetic markers and clinical covariates. Our FMEM is extremely useful for efficiently carrying out the candidate gene approaches in imaging genetic studies. FMEM consists of two novel components including a mixed effects model for modeling nonlinear genetic effects on imaging phenotypes by introducing the genetic random effects at each voxel and a jumping surface model for modeling the variance components of the genetic random effects and fixed effects as piecewise smooth functions of the voxels. Moreover, FMEM naturally accommodates the correlation structure of the genetic markers at each voxel, while the jumping surface model explicitly incorporates the intrinsically spatial smoothness of the imaging data. We propose a novel two-stage adaptive smoothing procedure to spatially estimate the piecewise smooth functions, particularly the irregular functional genetic variance components, while preserving their edges among different piecewise-smooth regions. We develop weighted likelihood ratio tests and derive their exact approximations to test the effect of the genetic markers across voxels. Simulation studies show that FMEM significantly outperforms voxel-wise approaches in terms of higher sensitivity and specificity to identify regions of interest for carrying out candidate genetic mapping in imaging genetic studies. Finally, FMEM is used to identify brain regions affected by three candidate genes including CR1, CD2AP, and PICALM, thereby hoping to shed light on the pathological interactions between these candidate genes and brain structure and function.

  7. 汉族人心脏瓣膜置换术后华法林用药剂量与基因型关系的相关性研究%Correlation of Warfarin Dosage and Genetic Polymorphism of Han-patients after Heart Valve Replacement

    Institute of Scientific and Technical Information of China (English)

    王玉庆; 董力; 石应康; 侯江龙; 江虹; 付博

    2016-01-01

    目的 探讨汉族人心脏瓣膜置换术后抗凝治疗华法林用药剂量个体差异与其基因多态性的相关性,预测患者华法林抗凝治疗的合理用药剂量,实现抗凝监测的个体化管理.方法 选择《中国人心脏瓣膜置换术后抗凝治疗数据库》中2011年1月1日至2012年12月31日在四川大学华西医院接受心脏瓣膜置换术、术后服用华法林行抗凝治疗,并接受国际标准化比值(international normalized ratio,INR)行抗凝监测的患者103例.其中男32例、女71例,年龄21~85 (48.64 ±11.66)岁,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法和基因测序技术检测CYP2C9 (rs1057910)和VKORC1 (rs9923231)基因位点的基因型和等位基因频率.用超高效液相色谱法(HPLC)检测患者华法林血药浓度,并用Sysmex CA7000 analyser试剂盒检测其凝血因子Ⅱ、Ⅶ、Ⅸ、Ⅹ活性.结果 性别、体表面积和凝血因子活性对华法林用药剂量的影响相对较弱.CYP2C9*3、VKORCI-1639、华法林血药浓度以及年龄对华法林用药剂量的影响相对较强,其影响程度(r2)依次为1.2%、26.5%、43.4%和5.0%.并由此推导出回归方程:Y=1.963-0.986× (CYP2C9*3)+ 0.893× (VKORC1-1639)+ 0.002×(华法林血药浓度)-0.019×(年龄).结论 结合CYP2C9和VKORC1两种基因的多态性检测结果、华法林血药浓度、年龄等非遗传因素建立的多元回归方程,可预测患者华法林抗凝治疗的合理用药剂量,从而实现抗凝监测的个体化管理,减少其并发症的发生.%Objectives To investigate the correlation of warfarin dose genetic and polymorphism of Han-patients after heart valve replacement,to forecast the anticoagulation therapy with warfarin reasonable dosage,and to realize individualized management of anticoagulation monitoring.Methods We selected 103 patients between January 1,2011 and December 31,2012 in West China Hospital of Sichuan University who were treated by oral

  8. Correlations in multiparticle production

    CERN Document Server

    Troshin, S M

    2011-01-01

    We discuss correlations in the hadron production in the $pp$-collision with emphasize on the ridge-like structure origin in the two-particle correlation function. We suggest that this structure can appear due to a rotating nature of the transient state of matter generated in the intermidiate stage of proton collison.

  9. ALMA correlator computer systems

    Science.gov (United States)

    Pisano, Jim; Amestica, Rodrigo; Perez, Jesus

    2004-09-01

    We present a design for the computer systems which control, configure, and monitor the Atacama Large Millimeter Array (ALMA) correlator and process its output. Two distinct computer systems implement this functionality: a rack- mounted PC controls and monitors the correlator, and a cluster of 17 PCs process the correlator output into raw spectral results. The correlator computer systems interface to other ALMA computers via gigabit Ethernet networks utilizing CORBA and raw socket connections. ALMA Common Software provides the software infrastructure for this distributed computer environment. The control computer interfaces to the correlator via multiple CAN busses and the data processing computer cluster interfaces to the correlator via sixteen dedicated high speed data ports. An independent array-wide hardware timing bus connects to the computer systems and the correlator hardware ensuring synchronous behavior and imposing hard deadlines on the control and data processor computers. An aggregate correlator output of 1 gigabyte per second with 16 millisecond periods and computational data rates of approximately 1 billion floating point operations per second define other hard deadlines for the data processing computer cluster.

  10. Estimates of genetic parameters and genetic change for reproduction, weight, and wool characteristics of Columbia sheep.

    Science.gov (United States)

    Hanford, K J; Van Vleck, L D; Snowder, G D

    2002-12-01

    Genetic parameters from both single-trait and bivariate analyses for prolificacy, weight and wool traits were estimated using REML with animal models for Columbia sheep from data collected from 1950 to 1998 at the U.S. Sheep Experiment Station (USSES), Dubois, ID. Breeding values from both single-trait and seven-trait analyses calculated using the parameters estimated from the single-trait and bivariate analyses were compared with respect to genetic trends. Number of observations were 31,401 for litter size at birth and litter size at weaning, 24,741 for birth weight, 23,903 for weaning weight, 29,572 for fleece weight and fleece grade, and 2,449 for staple length. Direct heritability estimates from single-trait analyses were 0.09 for litter size at birth, 0.06 for litter size at weaning, 0.27 for birth weight, 0.16 for weaning weight, 0.53 for fleece weight, 0.41 for fleece grade, and 0.55 for staple length. Estimate of direct genetic correlation between littersize at birth and weaning was 0.84 and between birth and weaning weights was 0.56. Estimate of genetic correlation between fleece weight and staple length was positive (0.55) but negative between fleece weight and fleece grade (-0.47) and between staple length and fleece grade (-0.70). Estimates of genetic correlations were positive but small between birth weight and litter size traits and moderate and positive between weaning weight and litter size traits. Fleece weight was lowly and negatively correlated with both litter size traits. Fleece grade was lowly and positively correlated with both litter size traits, while staple length was lowly and negatively correlated with the litter size traits. Estimates of correlations between weight traits and fleece weight were positive and low to moderate. Estimates of correlations between weight traits and fleece grade were negative and small. Estimates of correlations between staple length and birth weight (0.05) and weaning weight were small (-0.04). Estimated

  11. Higher-spin correlators

    CERN Document Server

    Alday, Luis F

    2013-01-01

    We analyze the properly normalized three-point correlator of two protected scalar operators and one higher spin twist-two operator in N=4 super Yang-Mills, in the limit of large spin j. The relevant structure constant can be extracted from the OPE of the four-point correlator of protected scalar operators. We show that crossing symmetry of the four point correlator plus a judicious guess for the perturbative structure of the three-point correlator, allow to make a prediction for the structure constant at all loops in perturbation theory, up to terms that remain finite as the spin becomes large. Furthermore, the expression for the structure constant allows to propose an expression for the all loops four-point correlator G(u,v), in the limit u,v -> 0. Our predictions are in perfect agreement with the large j expansion of results available in the literature.

  12. Genetics in the courts

    Energy Technology Data Exchange (ETDEWEB)

    Coyle, Heather; Drell, Dan

    2000-12-01

    Various: (1)TriState 2000 Genetics in the Courts (2) Growing impact of the new genetics on the courts (3)Human testing (4) Legal analysis - in re G.C. (5) Legal analysis - GM ''peanots'', and (6) Legal analysis for State vs Miller

  13. Genetics and Developmental Psychology

    Science.gov (United States)

    Plomin, Robert

    2004-01-01

    One of the major changes in developmental psychology during the past 50 years has been the acceptance of the important role of nature (genetics) as well as nurture (environment). Past research consisting of twin and adoption studies has shown that