Summary: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.

Top Publications

  1. ncbi Principal components analysis corrects for stratification in genome-wide association studies
    Alkes L Price
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 38:904-9. 2006
  2. pmc Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies
    Daniel Falush
    Department of Molecular Biology, Max Planck Institut für Infektionsbiologie, Schumann Strasse 21 22, 10117 Berlin, Germany
    Genetics 164:1567-87. 2003
  3. ncbi Bayes empirical bayes inference of amino acid sites under positive selection
    Ziheng Yang
    Department of Biology, University College London, London, UK
    Mol Biol Evol 22:1107-18. 2005
  4. pmc Understanding mechanisms underlying human gene expression variation with RNA sequencing
    Joseph K Pickrell
    Department of Human Genetics, The University of Chicago, Chicago 60637, USA
    Nature 464:768-72. 2010
  5. pmc New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
    Josée Dupuis
    Department of Biostatistics, Boston University School of Public Health, Massachusetts, USA
    Nat Genet 42:105-16. 2010
  6. pmc Description and power analysis of two tests for detecting recent population bottlenecks from allele frequency data
    J M Cornuet
    Laboratoire Population, Genetique, Evolution, CNRS, Gif sur Yvette, France
    Genetics 144:2001-14. 1996
  7. pmc Genome-wide association study of 107 phenotypes in Arabidopsis thaliana inbred lines
    Susanna Atwell
    Molecular and Computational Biology, University of Southern California, Los Angeles, California 90089, USA
    Nature 465:627-31. 2010
  8. ncbi Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families
    E H Corder
    Department of Medicine, Joseph and Kathleen Bryan Alzheimer s Disease Research Center, Duke University Medical Center, Durham, NC 27710
    Science 261:921-3. 1993
  9. pmc Transcriptome genetics using second generation sequencing in a Caucasian population
    Stephen B Montgomery
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, 1211 Switzerland
    Nature 464:773-7. 2010
  10. pmc Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering
    Sharon R Browning
    Department of Statistics, The University of Auckland, Auckland, New Zealand
    Am J Hum Genet 81:1084-97. 2007

Detail Information

Publications261 found, 100 shown here

  1. ncbi Principal components analysis corrects for stratification in genome-wide association studies
    Alkes L Price
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 38:904-9. 2006
    ..Our simple, efficient approach can easily be applied to disease studies with hundreds of thousands of markers...
  2. pmc Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies
    Daniel Falush
    Department of Molecular Biology, Max Planck Institut für Infektionsbiologie, Schumann Strasse 21 22, 10117 Berlin, Germany
    Genetics 164:1567-87. 2003
    ..The methods are implemented in a program, structure, version 2.0, which is available at
  3. ncbi Bayes empirical bayes inference of amino acid sites under positive selection
    Ziheng Yang
    Department of Biology, University College London, London, UK
    Mol Biol Evol 22:1107-18. 2005
    ..The results suggest that in small data sets the new BEB method does not generate false positives as did the old NEB approach, while in large data sets it retains the good power of the NEB approach for inferring positively selected sites...
  4. pmc Understanding mechanisms underlying human gene expression variation with RNA sequencing
    Joseph K Pickrell
    Department of Human Genetics, The University of Chicago, Chicago 60637, USA
    Nature 464:768-72. 2010
    ..Our results illustrate the power of high-throughput sequencing for the joint analysis of variation in transcription, splicing and allele-specific expression across individuals...
  5. pmc New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
    Josée Dupuis
    Department of Biostatistics, Boston University School of Public Health, Massachusetts, USA
    Nat Genet 42:105-16. 2010
  6. pmc Description and power analysis of two tests for detecting recent population bottlenecks from allele frequency data
    J M Cornuet
    Laboratoire Population, Genetique, Evolution, CNRS, Gif sur Yvette, France
    Genetics 144:2001-14. 1996
    ..the heterozygosity computed from a sample of genes is larger than the heterozygosity expected from the number of alleles found in the sample if the population were at mutation drift equilibrium...
  7. pmc Genome-wide association study of 107 phenotypes in Arabidopsis thaliana inbred lines
    Susanna Atwell
    Molecular and Computational Biology, University of Southern California, Los Angeles, California 90089, USA
    Nature 465:627-31. 2010
    ..Our results are dramatically different from those of human GWA studies, in that we identify many common alleles of major effect, but they are also, in many cases, harder to interpret because confounding by complex genetics ..
  8. ncbi Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families
    E H Corder
    Department of Medicine, Joseph and Kathleen Bryan Alzheimer s Disease Research Center, Duke University Medical Center, Durham, NC 27710
    Science 261:921-3. 1993
    ..from 20% to 90% and mean age at onset decreased from 84 to 68 years with increasing number of APOE-epsilon 4 alleles in 42 families with late onset AD...
  9. pmc Transcriptome genetics using second generation sequencing in a Caucasian population
    Stephen B Montgomery
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, 1211 Switzerland
    Nature 464:773-7. 2010
    ..This analysis shows that high throughput sequencing technologies reveal new properties of genetic effects on the transcriptome and allow the exploration of genetic effects in cellular processes...
  10. pmc Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering
    Sharon R Browning
    Department of Statistics, The University of Auckland, Auckland, New Zealand
    Am J Hum Genet 81:1084-97. 2007
    ..1 days of computing time, with 99% of masked alleles imputed correctly. Our method is implemented in the Beagle software package, which is freely available.
  11. ncbi Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene
    Avshalom Caspi
    Medical Research Council Social, Genetic, and Developmental Psychiatry Research Centre, Institute of Psychiatry, King s College London, PO80 De Crespigny Park, London, SE5 8AF, UK
    Science 301:386-9. 2003
    ..This epidemiological study thus provides evidence of a gene-by-environment interaction, in which an individual's response to environmental insults is moderated by his or her genetic makeup...
  12. pmc The major genetic determinants of HIV-1 control affect HLA class I peptide presentation
    Florencia Pereyra
    Ragon Institute of Massachusetts General Hospital, Massachusetts Institute of Technology MIT and Harvard, Boston, MA, USA
    Science 330:1551-7. 2010 well as an independent HLA-C effect, explain the SNP associations and reconcile both protective and risk HLA alleles. These results implicate the nature of the HLA-viral peptide interaction as the major factor modulating durable ..
  13. pmc Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
    Heribert Schunkert
    Universitat zu Lubeck, Medizinische Klinik II, Lubeck, Germany
    Nat Genet 43:333-8. 2011
    ..Finally, five of the new CAD risk loci appear to have pleiotropic effects, showing strong association with various other human diseases or traits...
  14. ncbi Detecting recent positive selection in the human genome from haplotype structure
    Pardis C Sabeti
    Whitehead Institute MIT Center for Genome Research, Nine Cambridge Center, Cambridge, Massachusetts 02142, USA
    Nature 419:832-7. 2002
    ..We then assess the age of each core haplotype by the decay of its association to alleles at various distances from the locus, as measured by extended haplotype homozygosity (EHH)...
  15. pmc A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity
    Timothy M Frayling
    Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Magdalen Road, Exeter, UK
    Science 316:889-94. 2007
    ..67-fold increased odds of obesity when compared with those not inheriting a risk allele. This association was observed from age 7 years upward and reflects a specific increase in fat mass...
  16. ncbi A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
    Y Miki
    Department of Medical Informatics, University of Utah Medical Center, Salt Lake City 84132
    Science 266:66-71. 1994
    ..predisposing mutations have been detected in five of eight kindreds presumed to segregate BRCA1 susceptibility alleles. The mutations include an 11-base pair deletion, a 1-base pair insertion, a stop codon, a missense substitution, ..
  17. ncbi The genetic architecture of maize flowering time
    Edward S Buckler
    U S Department of Agriculture USDA Agricultural Research Service USDA ARS, USA
    Science 325:714-8. 2009
    ..Thus, a simple additive model accurately predicts flowering time for maize, in contrast to the genetic architecture observed in the selfing plant species rice and Arabidopsis...
  18. ncbi Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region
    K P Lesch
    Department of Psychiatry, University of Wurzburg, Fuchsleinstrasse 15, 97080 Wurzburg, Germany
    Science 274:1527-31. 1996
  19. pmc Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles
    Benjamin P Fairfax
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Genet 44:502-10. 2012
    ..We also find that specific human leukocyte antigen (HLA) alleles form trans associations with the expression of AOAH and ARHGAP24 in monocytes but not in B cells...
  20. ncbi The structure of haplotype blocks in the human genome
    Stacey B Gabriel
    Whitehead MIT Center for Genome Research, Cambridge, MA 02139, USA
    Science 296:2225-9. 2002
    ..Our results provide a foundation for the construction of a haplotype map of the human genome, facilitating comprehensive genetic association studies of human disease...
  21. ncbi Microsatellite null alleles and estimation of population differentiation
    Marie Pierre Chapuis
    Centre de Biologie et de Gestion des Populations, Institut National pour la Recherche Agronomique, Campus International de Baillarguet, Montferrier Lez, France
    Mol Biol Evol 24:621-31. 2007
    Microsatellite null alleles are commonly encountered in population genetics studies, yet little is known about their impact on the estimation of population differentiation...
  22. pmc Common variants on chromosome 6p22.1 are associated with schizophrenia
    Jianxin Shi
    Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California 94304, USA
    Nature 460:753-7. 2009
    ..These results demonstrate that common schizophrenia susceptibility alleles can be detected...
  23. pmc Genome-wide maps of chromatin state in pluripotent and lineage-committed cells
    Tarjei S Mikkelsen
    Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA
    Nature 448:553-60. 2007
    ..This study provides a framework for the application of comprehensive chromatin profiling towards characterization of diverse mammalian cell populations...
  24. ncbi PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice
    F Baudat
    Institut de Genetique Humaine, UPR1142, CNRS, Montpellier, France
    Science 327:836-40. 2010
    ..Our results provide a molecular basis for the distribution of meiotic recombination in mammals, in which the binding of PRDM9 to specific DNA sequences targets the initiation of recombination at specific locations in the genome...
  25. pmc Complement factor H polymorphism in age-related macular degeneration
    Robert J Klein
    Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA
    Science 308:385-9. 2005
    ..This polymorphism is in a region of CFH that binds heparin and C-reactive protein. The CFH gene is located on chromosome 1 in a region repeatedly linked to AMD in family-based studies...
  26. pmc Transposable elements: targets for early nutritional effects on epigenetic gene regulation
    Robert A Waterland
    Department of Radiation Oncology, Duke University Medical Center, Durham, NC 27710, USA
    Mol Cell Biol 23:5293-300. 2003
    ..These findings suggest that dietary supplementation, long presumed to be purely beneficial, may have unintended deleterious influences on the establishment of epigenetic gene regulation in humans...
  27. pmc A map of recent positive selection in the human genome
    Benjamin F Voight
    Department of Human Genetics, University of Chicago, Chicago, Illinois, USA
    PLoS Biol 4:e72. 2006
    ..For this purpose we have developed a set of SNPs that can be used to tag the strongest approximately 250 signals of recent selection in each population...
  28. ncbi Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours
    L A Donehower
    Division of Molecular Virology, Baylor College of Medicine, Houston, Texas 77030
    Nature 356:215-21. 1992
  29. pmc Critical evaluation of imprinted gene expression by RNA-Seq: a new perspective
    Brian DeVeale
    Department of Molecular Genetics, University of Toronto, Toronto, Canada
    PLoS Genet 8:e1002600. 2012
    ..The results emphasize the importance of independent validation and suggest that the number of imprinted genes is much closer to the initial estimates...
  30. pmc A genome-wide scan for common alleles affecting risk for autism
    Richard Anney
    Department of Psychiatry, School of Medicine, Trinity College, Dublin 8, Ireland
    Hum Mol Genet 19:4072-82. 2010
    ..Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C...
  31. pmc High-resolution analysis of parent-of-origin allelic expression in the mouse brain
    Christopher Gregg
    Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA
    Science 329:643-8. 2010
    ..Thus, parental expression bias emerges as a major mode of epigenetic regulation in the brain...
  32. pmc Effect of COMT Val108/158 Met genotype on frontal lobe function and risk for schizophrenia
    M F Egan
    Clinical Brain Disorders Branch, Building 10, Center Drive, National Institute of Mental Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 98:6917-22. 2001
    ..These data suggest that the COMT Val allele, because it increases prefrontal dopamine catabolism, impairs prefrontal cognition and physiology, and by this mechanism slightly increases risk for schizophrenia...
  33. pmc Soft sweeps: molecular population genetics of adaptation from standing genetic variation
    Joachim Hermisson
    Section of Evolutionary Biology, Department of Biology II, Ludwig Maximilians University Munich, Germany
    Genetics 169:2335-52. 2005
    ..It may adapt either through new beneficial mutations that subsequently sweep through the population or by using alleles from the standing genetic variation...
  34. ncbi Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    A J Verkerk
    Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands
    Cell 65:905-14. 1991
    ..Localization of the brain-expressed FMR-1 gene to this EcoRI fragment suggests the involvement of this gene in the phenotypic expression of the fragile X syndrome...
  35. pmc The IMGT/HLA database
    James Robinson
    Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, Hampstead, London NW3 2QG, UK
    Nucleic Acids Res 39:D1171-6. 2011
    ..The naming of these HLA genes and alleles and their quality control is the responsibility of the WHO Nomenclature Committee for Factors of the HLA System...
  36. pmc AlleleSeq: analysis of allele-specific expression and binding in a network framework
    Joel Rozowsky
    Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA
    Mol Syst Biol 7:522. 2011
    ..expression (ASE) and binding (ASB), that is, differences between the maternally and paternally derived alleles, we have developed a computational pipeline (AlleleSeq)...
  37. pmc A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1)
    Gilles Thomas
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA
    Nat Genet 41:579-84. 2009
    ..1 (rs999737; P = 1.74 x 10(-7)) localizes to RAD51L1, a gene in the homologous recombination DNA repair pathway. We also confirmed associations with loci on chromosomes 2q35, 5p12, 5q11.2, 8q24, 10q26 and 16q12.1...
  38. ncbi Widespread parallel evolution in sticklebacks by repeated fixation of Ectodysplasin alleles
    Pamela F Colosimo
    Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA 94305 5329, USA
    Science 307:1928-33. 2005
    ..low-plated phenotypes at most freshwater locations around the world has occurred by repeated selection of Eda alleles derived from an ancestral low-plated haplotype that first appeared more than two million years ago...
  39. pmc Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
    Cristen J Willer
    Genetic Investigation of ANthropometric Traits Consortium
    Nat Genet 41:25-34. 2009
    ..Several of the likely causal genes are highly expressed or known to act in the central nervous system (CNS), emphasizing, as in rare monogenic forms of obesity, the role of the CNS in predisposition to obesity...
  40. ncbi Epistatic interaction between KIR3DS1 and HLA-B delays the progression to AIDS
    Maureen P Martin
    Basic Research Program, SAIC Frederick, Frederick, Maryland 21702 1201, USA
    Nat Genet 31:429-34. 2002
    ..Here we report that the activating KIR allele KIR3DS1, in combination with HLA-B alleles that encode molecules with isoleucine at position 80 (HLA-B Bw4-80Ile), is associated with delayed progression to ..
  41. pmc The serotonin transporter promoter variant (5-HTTLPR), stress, and depression meta-analysis revisited: evidence of genetic moderation
    Katja Karg
    Department of Human Genetics, University of Wuerzburg, Wuerzburg, Germany
    Arch Gen Psychiatry 68:444-54. 2011
    ..However, even the larger of the meta-analyses included only 14 of the 56 studies that have assessed the relationship between 5-HTTLPR, stress, and depression...
  42. pmc Assessing the evolutionary impact of amino acid mutations in the human genome
    Adam R Boyko
    Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, New York, USA
    PLoS Genet 4:e1000083. 2008
    ..Our analysis also predicts that many of the alleles identified via whole-genome association mapping may be selectively neutral or (formerly) positively selected, ..
  43. ncbi The BDNF val66met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function
    Michael F Egan
    Clinical Brain Disorders Branch, National Institute of Mental Health, Room 4s 235, 10 Center Drive, Bethesda, MD 20892, USA
    Cell 112:257-69. 2003
    ..These results demonstrate a role for BDNF and its val/met polymorphism in human memory and hippocampal function and suggest val/met exerts these effects by impacting intracellular trafficking and activity-dependent secretion of BDNF...
  44. pmc Common SNP in pre-miR-146a decreases mature miR expression and predisposes to papillary thyroid carcinoma
    Krystian Jazdzewski
    Human Cancer Genetics Program, Comprehensive Cancer Center, Ohio State University, 850 Biomedical Research Tower, 460 West 12th Avenue, Columbus, OH 43210, USA
    Proc Natl Acad Sci U S A 105:7269-74. 2008
    ..Preliminary evidence suggests that these effects are mediated through target genes whose expression is affected by the SNP status...
  45. pmc Population genomics of human gene expression
    Barbara E Stranger
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nat Genet 39:1217-24. 2007
    ..We also explore several methodologies that improve the current state of analysis of gene expression variation...
  46. pmc Common genetic variation and the control of HIV-1 in humans
    Jacques Fellay
    Center for Human Genome Variation, Duke Institute for Genome Sciences and Policy, Duke University, Durham, North Carolina, USA
    PLoS Genet 5:e1000791. 2009
    ..This study thus represents a comprehensive assessment of common human genetic variation in HIV-1 control in Caucasians...
  47. ncbi Genome-wide insertional mutagenesis of Arabidopsis thaliana
    Jose M Alonso
    Genomic Analysis Laboratory, The Salk Institute for Biological Studies, La Jolla, CA 92037, USA
    Science 301:653-7. 2003
    ..Insertion mutations were identified in genes that are regulated in response to the plant hormone ethylene...
  48. ncbi Adaptation to climate across the Arabidopsis thaliana genome
    Angela M Hancock
    Department of Ecology and Evolution, University of Chicago, 1101 East 57th Street, Chicago, IL 60637, USA
    Science 334:83-6. 2011
    ..enriched among the loci strongly correlated with climate, suggesting that our scan effectively detects adaptive alleles. Moreover, from our results, we successfully predicted relative fitness among a set of geographically diverse A...
  49. ncbi Darwinian evolution can follow only very few mutational paths to fitter proteins
    Daniel M Weinreich
    Department of Organismic and Evolutionary Biology, Harvard University, 16 Divinity Avenue, Cambridge, MA 02138, USA
    Science 312:111-4. 2006 this high-resistance beta-lactamase might follow any of the 120 mutational trajectories linking these alleles. However, we demonstrate that 102 trajectories are inaccessible to Darwinian selection and that many of the ..
  50. pmc A SNP in a let-7 microRNA complementary site in the KRAS 3' untranslated region increases non-small cell lung cancer risk
    Lena J Chin
    Department of Molecular, Yale University, New Haven, Connecticut 06520, USA
    Cancer Res 68:8535-40. 2008
    ..The LCS6 variant allele in a KRAS miRANA complementary site is significantly associated with increased risk for NSCLC among moderate smokers and represents a new paradigm for let-7 miRNAs in lung cancer susceptibility...
  51. ncbi Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary structure
    A G Nackley
    Center for Neurosensory Disorders, University of North Carolina, Chapel Hill, NC 27599, USA
    Science 314:1930-3. 2006
    ..These data highlight the functional significance of synonymous variations and suggest the importance of haplotypes over single-nucleotide polymorphisms for analysis of genetic variations...
  52. pmc Heritable individual-specific and allele-specific chromatin signatures in humans
    Ryan McDaniell
    Center for Systems and Synthetic Biology, Institute for Cellular and Molecular Biology, Section of Molecular Genetics and Microbiology, University of Texas, Austin, TX 78712, USA
    Science 328:235-9. 2010
    ..Our study shows that heritable chromatin status and transcription factor binding differ as a result of genetic variation and may underlie phenotypic variation in humans...
  53. ncbi Genome-wide association study identifies five susceptibility loci for glioma
    Sanjay Shete
    Department of Epidemiology, The University of Texas M D Anderson Cancer Center, Houston, Texas, USA
    Nat Genet 41:899-904. 2009
    ..3 (rs498872, PHLDB1; P = 1.07 x 10(-8)). These data show that common low-penetrance susceptibility alleles contribute to the risk of developing glioma and provide insight into disease causation of this primary brain tumor...
  54. ncbi Genetic diversity and chloroquine selective sweeps in Plasmodium falciparum
    John C Wootton
    Computational Biology Branch, National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, Maryland 20894 6075, USA
    Nature 418:320-3. 2002
    ..The presence of linkage disequilibrium provides a basis for mapping genes under drug selection in P. falciparum...
  55. pmc Positional cloning of the wheat vernalization gene VRN1
    L Yan
    Department of Agronomy and Range Science, University of California, Davis 95616, USA
    Proc Natl Acad Sci U S A 100:6263-8. 2003
    ..No differences were detected between genotypes with different VRN1 alleles in the AP1 and AGLG1 coding regions, but three independent deletions were found in the promoter region of AP1...
  56. ncbi HLA and NK cell inhibitory receptor genes in resolving hepatitis C virus infection
    Salim I Khakoo
    Liver Group, Division of Infection, Inflammation, and Repair, Southampton University, Southampton 5016 6YD, UK
    Science 305:872-4. 2004
    ..The data strongly suggest that inhibitory NK cell interactions are important in determining antiviral immunity and that diminished inhibitory responses confer protection against HCV...
  57. pmc 9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response
    Olivier Harismendy
    Department of Pediatrics and Rady s Children s Hospital, University of California at San Diego, School of Medicine, La Jolla, California 92093, USA
    Nature 470:264-8. 2011
    ..55 × 10(-33)). The CAD risk alleles of SNPs rs10811656 and rs10757278 are located in one of these enhancers and disrupt a binding site for STAT1...
  58. pmc Prdm9 controls activation of mammalian recombination hotspots
    Emil D Parvanov
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Science 327:835. 2010
    ..Mus musculus exhibits five alleles of Prdm9; human populations exhibit two predominant alleles and multiple minor alleles...
  59. pmc Meta-analysis and imputation refines the association of 15q25 with smoking quantity
    Jason Z Liu
    Department of Statistics, University of Oxford, Oxford, UK
    Nat Genet 42:436-40. 2010
    ..Our fine-mapping approach identified a SNP showing the highest significance, rs55853698, located within the promoter region of CHRNA5. Conditional analysis also identified a secondary locus (rs6495308) in CHRNA3...
  60. pmc Parental origin of sequence variants associated with complex diseases
    Augustine Kong
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nature 462:868-74. 2009
    ..for 38,167 Icelanders genotyped using single nucleotide polymorphism (SNP) chips, the parental origin of most alleles can be determined. For this we used a combination of genealogy and long-range phasing...
  61. pmc Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data
    Jacob F Degner
    Department of Human Genetics, University of Chicago, 920 E 58th St, CLSC 507, Chicago, IL 60637, USA
    Bioinformatics 25:3207-12. 2009
    ..Here, we investigate the impact of SNP variation on the reliability of read-mapping in the context of detecting allele-specific expression (ASE)...
  62. ncbi Essential role for de novo DNA methyltransferase Dnmt3a in paternal and maternal imprinting
    Masahiro Kaneda
    Division of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Research Organization of Information and Systems, Mishima 411 8540, Japan
    Nature 429:900-3. 2004
    ..These results indicate that both Dnmt3a and Dnmt3L are required for methylation of most imprinted loci in germ cells, but also suggest the involvement of other factors...
  63. pmc The landscape of recombination in African Americans
    Anjali G Hinch
    Wellcome Trust Centre for Human Genetics, Oxford University, Roosevelt Drive, Oxford OX3 7BN, UK
    Nature 476:170-5. 2011
    ..The probability of a crossover at these hotspots is almost fully controlled by the alleles an individual carries at PRDM9 (P value < 10(-245))...
  64. pmc Breast cancer risk-associated SNPs modulate the affinity of chromatin for FOXA1 and alter gene expression
    Richard Cowper-Sal Lari
    Department of Genetics, Norris Cotton Cancer Center, Dartmouth Medical School, Lebanon, New Hampshire, USA
    Nat Genet 44:1191-8. 2012
    ..1 risk locus...
  65. ncbi Complement factor H variant increases the risk of age-related macular degeneration
    Jonathan L Haines
    Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    Science 308:419-21. 2005
    ..45 and 5.57. This common variant likely explains approximately 43% of AMD in older adults...
  66. ncbi Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
    Mary Claire King
    Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Science 302:643-6. 2003
    ..Lifetime risks of ovarian cancer were 54% for BRCA1 and 23% for BRCA2 mutation carriers. Physical exercise and lack of obesity in adolescence were associated with significantly delayed breast cancer onset...
  67. pmc Development and implementation of high-throughput SNP genotyping in barley
    Timothy J Close
    Department of Botany and Plant Sciences, University of California UCR, Riverside, CA, 92521, USA
    BMC Genomics 10:582. 2009
  68. pmc Association of trypanolytic ApoL1 variants with kidney disease in African Americans
    Giulio Genovese
    Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02215, USA
    Science 329:841-5. 2010
    ..We speculate that evolution of a critical survival factor in Africa may have contributed to the high rates of renal disease in African Americans...
  69. ncbi Detection of reduction in population size using data from microsatellite loci
    J C Garza
    Department of Integrative Biology, University of California, Berkeley, CA 94720, USA
    Mol Ecol 10:305-18. 2001
    We demonstrate that the mean ratio of the number of alleles to the range in allele size, which we term M, calculated from a population sample of microsatellite loci, can be used to detect reductions in population size...
  70. ncbi Distortion of allele frequency distributions provides a test for recent population bottlenecks
    G Luikart
    Division of Biological Sciences, University of Montana, Missoula 59812, USA
    J Hered 89:238-47. 1998
    ..Bottlenecks cause alleles at low frequency (< 0...
  71. ncbi Serotonin transporter genetic variation and the response of the human amygdala
    Ahmad R Hariri
    Clinical Brain Disorders Branch, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA
    Science 297:400-3. 2002
  72. ncbi Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium
    L A Farrer
    Department of Neurology, Boston University School of Medicine, Mass 02118, USA
    JAMA 278:1349-56. 1997
    ..To examine more closely the association between apolipoprotein E (APOE) genotype and Alzheimer disease (AD) by age and sex in populations of various ethnic and racial denominations...
  73. pmc Allele-specific copy number analysis of tumors
    Peter Van Loo
    Department of Genetics, Institute for Cancer Research, Clinic for Cancer and Surgery, Oslo University Hospital, Montebello, N 0310 Oslo, Norway
    Proc Natl Acad Sci U S A 107:16910-5. 2010
    ..We hypothesize that these alternative alleles have a different influence on breast carcinoma development.
  74. pmc Single nucleotide polymorphism genotyping in polyploid wheat with the Illumina GoldenGate assay
    Eduard Akhunov
    Department of Plant Sciences, University of California, Davis, CA 95616, USA
    Theor Appl Genet 119:507-17. 2009
  75. ncbi A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3
    Ian P M Tomlinson
    Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research UK, London WC2A 3PX, UK
    Nat Genet 40:623-30. 2008
    To identify colorectal cancer (CRC) susceptibility alleles, we conducted a genome-wide association study. In phase 1, we genotyped 550,163 tagSNPs in 940 familial colorectal tumor cases (627 CRC, 313 high-risk adenoma) and 965 controls...
  76. ncbi Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene
    Alfons Meindl
    Department of Obstetrics and Gynecology, Division of Tumor Genetics, Klinikum rechts der Isar der Technischen Universitaet Muenchen, Munich, Germany
    Nat Genet 42:410-4. 2010
    ..These results provide the first unambiguous evidence of highly penetrant mutations associated with human cancer in a RAD51 paralog and support the 'common disease, rare allele' hypothesis...
  77. pmc Differential microRNA regulation of HLA-C expression and its association with HIV control
    Smita Kulkarni
    Cancer and Inflammation Program, Laboratory of Experimental Immunology, SAIC Frederick, Inc, NCI Frederick, Frederick, Maryland, USA
    Nature 472:495-8. 2011
    ..binding of the microRNA hsa-miR-148 to its target site, resulting in relatively low surface expression of alleles that bind this microRNA and high expression of HLA-C alleles that escape post-transcriptional regulation...
  78. pmc Sex-specific parent-of-origin allelic expression in the mouse brain
    Christopher Gregg
    Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA
    Science 329:682-5. 2010
    ..Parent-of-origin effects thus provide new avenues for investigation of sexual dimorphism in brain function and disease...
  79. pmc Common variants at 30 loci contribute to polygenic dyslipidemia
    Sekar Kathiresan
    Cardiovascular Research Center and Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Nat Genet 41:56-65. 2009
    ..These results suggest that the cumulative effect of multiple common variants contributes to polygenic dyslipidemia...
  80. pmc The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer
    Mark M Pomerantz
    Department of Medical Oncology, Dana Farber Cancer Institute, Boston, Massachusetts, USA
    Nat Genet 41:882-4. 2009
    ..We present evidence that the region harboring this variant is a transcriptional enhancer, that the alleles of rs6983267 differentially bind transcription factor 7-like 2 (TCF7L2) and that the risk region physically ..
  81. ncbi From evolutionary genetics to human immunology: how selection shapes host defence genes
    Luis B Barreiro
    Human Evolutionary Genetics, Institut Pasteur, Centre National de la Recherche Scientifique URA3012, Paris 75015, France
    Nat Rev Genet 11:17-30. 2010
    ..A tighter integration between population genetic studies and immunological phenotype studies is now necessary to reveal the mechanisms that have been crucial for our past and present survival against infection...
  82. ncbi 'Green revolution' genes encode mutant gibberellin response modulators
    J Peng
    John Innes Centre, Norwich Research Park, UK
    Nature 400:256-61. 1999
    ..This reduced response to gibberellin is conferred by mutant dwarfing alleles at one of two Reduced height-1 (Rht-B1 and Rht-D1) loci...
  83. ncbi A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk
    Peter Broderick
    Section of Cancer Genetics, Institute of Cancer Research, Sutton SM2 5NG, UK
    Nat Genet 39:1315-7. 2007
    ..Across the four sample sets, the association between rs4939827 and CRC was highly statistically significant (P(trend) = 1.0 x 10(-12))...
  84. pmc Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer
    M D Ritchie
    Program in Human Genetics, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical School, Nashville, TN 37232, USA
    Am J Hum Genet 69:138-47. 2001
    ..To our knowledge, this is the first report of a four-locus interaction associated with a common complex multifactorial disease...
  85. ncbi Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
    J P Hugot
    Fondation Jean Dausset CEPH, 27 rue J Dodu 75010 Paris, France
    Nature 411:599-603. 2001
  86. ncbi Genomic surveys by methylation-sensitive SNP analysis identify sequence-dependent allele-specific DNA methylation
    Kristi Kerkel
    Institute for Cancer Genetics, Columbia University Medical Center, New York, New York 10032, USA
    Nat Genet 40:904-8. 2008
    ..This recurrent phenomenon of sequence-dependent ASM has practical implications for mapping and interpreting associations of noncoding SNPs and haplotypes with human phenotypes...
  87. ncbi KDM1B is a histone H3K4 demethylase required to establish maternal genomic imprints
    David N Ciccone
    Epigenetics Program, Novartis Institutes for BioMedical Research, 250 Massachusetts Avenue, Cambridge, Massachusetts 02139, USA
    Nature 461:415-8. 2009
    Differential DNA methylation of the paternal and maternal alleles regulates the parental origin-specific expression of imprinted genes in mammals...
  88. pmc Transcription is required for establishment of germline methylation marks at imprinted genes
    Mita Chotalia
    Laboratory of Developmental Genetics and Imprinting, The Babraham Institute, Cambridge CB22 3AT, United Kingdom
    Genes Dev 23:105-17. 2009
  89. pmc Genome-wide identification of susceptibility alleles for viral infections through a population genetics approach
    Matteo Fumagalli
    Scientific Institute IRCCS E Medea, Bioinformatic Lab, Bosisio Parini LC, Italy
    PLoS Genet 6:e1000849. 2010
  90. pmc CTCF physically links cohesin to chromatin
    Eric D Rubio
    Department of Radiation Oncology, University of Washington School of Medicine, Seattle WA 98195, USA
    Proc Natl Acad Sci U S A 105:8309-14. 2008
    ..allele-specific binding of CTCF and Scc3/SA1 at the imprinted IGF2/H19 gene locus and our analyses of human DM1 alleles containing base substitutions at CTCF-binding motifs indicate that cohesin recruitment to chromosomal sites ..
  91. pmc Phase 1/2a study of the malaria vaccine candidate apical membrane antigen-1 (AMA-1) administered in adjuvant system AS01B or AS02A
    Michele D Spring
    United States Military Malaria Vaccine Program, Walter Reed Army Institute of Research, Silver Spring, Maryland, United States of America
    PLoS ONE 4:e5254. 2009
  92. ncbi Hyper-recombination, diversity, and antibiotic resistance in pneumococcus
    William Paul Hanage
    Department of Infectious Disease Epidemiology, Imperial College London, Norfolk Place, London W2 1PG, UK
    Science 324:1454-7. 2009
    ..This could have consequences for the reemergence of drug resistance after pneumococcal vaccination and also for our understanding of diversification and speciation in recombinogenic bacteria...
  93. pmc Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
    Sekar Kathiresan
    Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Nat Genet 40:189-97. 2008
    ..Understanding the molecular, cellular and clinical consequences of the newly identified loci may inform therapy and clinical care...
  94. pmc Allelic skewing of DNA methylation is widespread across the genome
    Leonard C Schalkwyk
    MRC SGDP Research Centre, Institute of Psychiatry, King s College London, London, UK
    Am J Hum Genet 86:196-212. 2010
    DNA methylation is assumed to be complementary on both alleles across the genome, although there are exceptions, notably in regions subject to genomic imprinting...
  95. pmc Insertional mutagenesis of genes required for seed development in Arabidopsis thaliana
    J McElver
    Syngenta, Research Triangle Park, North Carolina 27709, USA
    Genetics 159:1751-63. 2001
    ..The frequency of duplicate mutant alleles recovered is consistent with a relatively small number of essential (EMB) genes with nonredundant functions ..
  96. pmc Extensive demethylation of repetitive elements during seed development underlies gene imprinting
    Mary Gehring
    Howard Hughes Medical Institute HHMI, Fred Hutchinson Cancer Research Center FHCRC, 1100 Fairview Avenue North, Seattle, WA 98109, USA
    Science 324:1447-51. 2009
    ..These data suggest that imprinting in plants evolved from targeted methylation of transposable element insertions near genic regulatory elements followed by positive selection when the resulting expression change was advantageous...
  97. pmc Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions
    Matteo Fumagalli
    Scientific Institute IRCCS E Medea, Bioinformatic Laboratory, 23842 Bosisio Parini, Italy
    J Exp Med 206:1395-408. 2009
    ..By searching for variants in IL genes identified in genome-wide association studies, we verified that six risk alleles for inflammatory bowel (IBD) or celiac disease are significantly correlated with micropathogen richness...
  98. ncbi Global patterns of cis variation in human cells revealed by high-density allelic expression analysis
    Bing Ge
    McGill University and Genome Quebec Innovation Centre, Montreal, Quebec, Canada
    Nat Genet 41:1216-22. 2009
    ..The dense collection of associations will facilitate large-scale isolation of cis-regulatory SNPs...
  99. pmc Yeast Mph1 helicase dissociates Rad51-made D-loops: implications for crossover control in mitotic recombination
    Rohit Prakash
    Department of Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, Connecticut 06520, USA
    Genes Dev 23:67-79. 2009
    ..Importantly, Mph1, but not a helicase-defective variant, dissociates Rad51-made D-loops. Overall, the results from our analyses suggest a new role of Mph1 in promoting the noncrossover repair of DNA double-strand breaks...
  100. ncbi DEMETER, a DNA glycosylase domain protein, is required for endosperm gene imprinting and seed viability in arabidopsis
    Yeonhee Choi
    Department of Plant and Microbial Biology, University of California, Berkeley, Berkeley, CA 94720, USA
    Cell 110:33-42. 2002
    ..In leaf, ectopic DME expression induces MEA and nicks the MEA promoter. Thus, a DNA glycosylase activates maternal expression of an imprinted gene in the central cell...
  101. pmc Allele-specific silencing of dominant disease genes
    Victor M Miller
    Department of Neurology, Graduate Program in Genetics, University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA
    Proc Natl Acad Sci U S A 100:7195-200. 2003
    ..RNA (siRNA) holds therapeutic promise for silencing dominantly acting disease genes, particularly if mutant alleles can be targeted selectively...

Research Grants74

    RUTH M STEWARD; Fiscal Year: 2010
    ..Several loss-of-function alleles in zfrp8 cause enormous hyperplasia of the lymph glands, over-proliferation of immature blood cells, and severe ..
  2. Discovery metabolite profiling of the prolyl peptidases
    Alan Saghatelian; Fiscal Year: 2009
    ..Furthermore, the application of DMP to peptidases will demonstrate the generality of this approach for the future characterization of medically relevant enzymes and signaling pathways. ..
  3. NIH Director's Pioneer Award
    Junying Yuan; Fiscal Year: 2009
    ..No Abstract provided ..
  4. Transcription factors regulating sensory gene expression and pain pathways
    Eric E Turner; Fiscal Year: 2011
    ..To test this hypothesis we will induce excision of conditional alleles of Islet1 and Brn3a in adult mice using tamoxifen-induced Cre-recombinase...
  5. Identification of Genetic and Epigenetic Alterations in Spondyloarthritis
    Tibor T Glant; Fiscal Year: 2013
    ..Over 93% of indels (mutations: polymorphisms, deletions, insertions found in DBA/2 alleles) were localized in 3 relatively small genomic regions affecting a cluster of 3 (Gpr107-Nsc1-Hmcn2) genes and 2 ..
  6. H1R Signaling and Immune Deviation in EAE
    Cory Teuscher; Fiscal Year: 2013
    ..H1R alleles differ by three amino acids in the third intracellular loop (H1RS: Pro263Val312Pro330;H1RR: Leu263Met312Ser330)...
  7. Pharmacogenetics of obesity and endocannabinergic modulation (POEM)
    Russell A Wilke; Fiscal Year: 2012
    ..the entire cohort (n = 2209), and Bayesian statistical methods will be employed to identify potentially causative alleles. For each gene, causative polymorphisms will be prioritized using a quantitative trait nucleotide (QTN) approach, ..
    Chella David; Fiscal Year: 2009
    ..Predisposition to develop Rheumatoid arthritis (RA) is associated with the presence of certain HLA alleles while others offer resistance...
  9. Weight Loss &Exercise Effects on Telomere Length in Postmenopausal Women
    ANNE M MCTIERNAN; Fiscal Year: 2012
    ..Effect modification by gene SNP alleles related to telomere length (TERT, TRF1, TNKS1, TRF2, RAP1, POT1, and rs12696304 near TERC) will also be tested...
  10. Early Life Conditions, Survival, and Health: A Pedigree-Based Population Study
    Ken R Smith; Fiscal Year: 2013
    ..We also test if there is effect modification of APOE alleles on the association between ELCS &later-life biomarkers.
  11. X chromosome, injury and infection
    Zoltan Spolarics; Fiscal Year: 2012
    ..reflected in skewed cell composition and cell activation toward mosaic subpopulations expressing the advantageous alleles together with improved bacterial killing and survival...
  12. Genetics of the Neuromuscular Junction: Mechanisms and Disease Models
    Robert W Burgess; Fiscal Year: 2013
    ..Aim 1, we will create a mouse model of DI-CMTC using a "Conditional knockin" strategy to introduce human disease alleles into the mouse Yars gene...
    Tibor T Glant; Fiscal Year: 2013 identical H2d MHC allele, and we have generated five congenic strains containing DBA/2 (PGIA-resistant strain) alleles in chromosomes 3, 7, 8, 15 and 19 in BALB/c (PGIA-susceptible strain) background...
  14. Complex I: Role of L Subunit in Proton Translocation
    Steven B Vik; Fiscal Year: 2011
    ..Some such alleles are known to be causative for fatal disorders such as Leber's hereditary optic neuropathy (LHON), Leigh ..
  15. Modifiers of Cyst Progression in Polycystic Kidney Disease
    Phillip Darwin Bell; Fiscal Year: 2013
    ..However, in the adult animal, using conditional floxed alleles, to knockout cilia or delete cystoproteins, development of significant cystic disease only occurs after a number ..
  16. Non-coding RNA engineers antibody diversity
    Uttiya Basu; Fiscal Year: 2011
    ..RNA exosome complex in CSR and SHM in vivo by generating various mouse model systems that harbor loss of function alleles of subunits of the RNA exosome complex...
  17. Diverse Roles for RIC8 During G Protein Signaling in Fungi
    Katherine A Borkovich; Fiscal Year: 2012
    ..ric8 strains have greatly reduced levels of G proteins, constitutively-activated alleles of gna-1 and gna- 3 rescue many defects of ?ric8 mutants and preliminary results support a physical interaction ..
  18. The Role of MYST Histone Acetyltransferase in Genome Stability
    M Mitchell Smith; Fiscal Year: 2013
    ..Finally, we will use our knowledge of ESA1 to construct conditional knockout mice carrying mutant Myst2 alleles that will reveal if it also has essential non-enzymatic functions during development...
  19. Genetic Study of PP-Fold Polypeptide-Receptor Axis on Metabolic Syndrome Risk
    PEI AN SHIH; Fiscal Year: 2013
    ..genetic variants in the PP-fold peptide pathway, (2) Molecular biology: Determine the functional role of the risk alleles by in vitro approaches, (3) Exploratory translational study: Characterize the role of plasma PYY in obesity and ..
  20. Roles of RNA Polymerases IV and V in siRNA-mediated gene silencing
    CRAIG STUART PIKAARD; Fiscal Year: 2013
    ..transposon silencing, centromere maintenance, X-chromosome inactivation and imprinting of maternal or paternal alleles. DNA methylation and chromatin modifications are also implicated in Rett, ICF, Prader-Willi, Beckwith-Wiedemann ..
  21. The function of ATM protein in the biology of the adult neuron CNS:
    Karl Herrup; Fiscal Year: 2013
    ..diversity of phenotype in human A-T is mimicked successfully in the mouse, provided that the correct set of alleles is chosen for analysis...
  22. Olfactory Circuits for Reproduction and Reward
    James A Cherry; Fiscal Year: 2013
    ..neuroendocrine responses, permit the discrimination of scents based on differences in major histocompatibility alleles, and sex-dependently activate regions of the hypothalamus involved in reproduction...
  23. Genomic Enhancers at 8q24 and Prostate Cancer
    Gerhard A Coetzee; Fiscal Year: 2013
    ..Cancer The understanding of genetic predisposition to prostate cancer (PCa) and the identification of at-risk alleles have undergone a revolution during the past three years, mainly due to the utilization of high-throughput genomic ..
  24. RNA interference therapy for Huntington's disease: studies in non-human primates
    Beverly L Davidson; Fiscal Year: 2010
    ..diseases like HD? Second, is the primate brain tolerant of knock down of both normal and mutant HTT alleles? To address the former question we, and others, have built the tools necessary for sustained expression of ..
    RICHARD J BUCALA; Fiscal Year: 2013
    ..In the most recent funding period, we described a significant association between functional alleles in the human MIF gene (MIF) and clinical outcome from pneumonia...
    Veena Taneja; Fiscal Year: 2013
    ..In aim 1 we will investigate the mechanism of association of DR and DQ alleles with arthritis by studying immunogenicity and presentation of posttranslationally modified synovial proteins...
    DONALD JOSEPH MCCRANN; Fiscal Year: 2010
    ..TSAD couples to EPOR/JAK2 complexes via the use of primary erythroblasts expressing knocked-in PY-deficient EPOR alleles;3) Determine the effects of TSAD- deficiency on steady-state erythropoiesis, EPO-responsiveness, and anemia in ..
    Vincent W Yang; Fiscal Year: 2013
    ..tissue microarray analysis (TMA), (2) to establish transgenic mice with intestine-specific ablation of the Klf4 alleles with which to investigate its tumor suppressive function in vivo, (3) to determine the role of KLF4 in regulating ..
  29. Regulation of Odorant Receptor Gene Expression
    Paul Feinstein; Fiscal Year: 2013
    ..However, each allele of each gene is treated as a separate entity leading to ~3000 OR alleles to be expressed in a clonal (singular) manner by olfactory neurons...
  30. Delineation of the molecular mechanisms underlying group A Streptococcus virulenc
    Paul Sumby; Fiscal Year: 2013 scored as having no role, a moderate role, or a major role in activity based upon the ability of mutant fasX alleles to restore streptokinase activity to fasX mutant strain 2221FASX...
  31. Impact of smoking on immune response and arthritis in humanized mice
    Veena Taneja; Fiscal Year: 2011
    ..and lack mechanism by which environmental factors associate with genetics due to linkage of DR and DQ alleles in humans...
  32. VEGF Regulation of Hepatic Erythropoietin Synthesis
    Calvin Kuo; Fiscal Year: 2009
    ..immunoprecipitation assays and functionally by adenoviral and transgenic expression of Cre to delete floxed alleles of relevant candidates...
  33. A novel allele influencing HIV infection among injection drug users
    Xiao Fang Yu; Fiscal Year: 2012
    ..deletion are significantly more resistant to HIV-1 infection than those who are homozygous for the wild-type A3B alleles (odds ratio=3 [95% confidence interval 1.2-7.5])...
  34. Novel genetics, pathobiology &therapy of nephronophthisis-related ciliopathies
    Friedhelm Hildebrandt; Fiscal Year: 2013
    ..In addition, we demonstrated that specific mutated alleles determine the disease phenotype of NPHP-related ciliopathies in the following way: Two truncating mutations cause ..
  35. Development of a Porcine Model of Ataxia-Telangiectasia
    Christopher Rogers; Fiscal Year: 2011
    ..This proposal specifically outlines the development of porcine fibroblasts with mutated ATM alleles. Gene targeting vectors will be constructed to disrupt the endogenous porcine ATM gene in a region frequently ..
  36. Developmental Programs of Neural Circuits in the Mouse Medial Hypothalamus
    Holly A Ingraham; Fiscal Year: 2013
    ..Our broad approach will be to create different mouse models using a combination of floxed alleles that can be crossed to Cre-Recombinase driver lines. In three aims we will ask how Nkx2...
  37. Genetic Vulnerability to Alcohol Withdrawal and Genetically Correlated Behaviors
    Kari J Buck; Fiscal Year: 2012
    ..Quantitative trait loci (QTL) are chromosome sites containing alleles (genes) that affect complex traits...
  38. Contribution of Gstm1 to the severity of hypertension and chronic kidney disease
    Thu H Le; Fiscal Year: 2013
    ..HR) for the time to glomerular filtration rate (GFR) event, dialysis or death in those with two or one null alleles relative to those with two active alleles were 2.15 (p=0.005) and 1.73 (p=0.03), respectively...
  39. Derivation of cerebral cortical GABAergic interneurons from human iPS cells
    Lorenz P Studer; Fiscal Year: 2010
    ..below, but the ideal future objective would be to;1) derive iPSCs from patients known to harbor particular risk alleles for the given neuropsychiatric illness together with unaffected and non-risk allele carrying controls, 2) insert ..
  40. Eph/ephrin signaling in craniofacial development and disease
    JEFFREY OHMANN BUSH; Fiscal Year: 2010
    ..I will do this by utilizing currently available alleles to remove ephrin-B2 from the palatal shelf epithelium, where it is highly expressed...
  41. The role of satellite rasiRNA in the Segregation Distorter system of Drosophila
    ..heterozygous males, the SD chromosome is transmitted to 95% of the progeny by killing sperm carrying sensitive alleles of its target locus, Responder (Rsp-a satellite repeat near the centromere of chromosome 2)...
  42. Humanized Transgenic Mice Reproduce the Disease Evolution in Severe RA
    Grete Sonderstrup; Fiscal Year: 2010
    ..arthritis (RA) is a common autoimmune disease in humans genetically associated with specific HLA class II alleles. Although several mouse models of RA develop symptoms and clinical arthritis with similar joint distribution as ..
  43. Eph/ephrin signaling in craniofacial development and disease
    JEFFREY OHMANN BUSH; Fiscal Year: 2013
    ..I will do this by utilizing currently available alleles to remove ephrin-B2 from the palatal shelf epithelium, where it is highly expressed...
  44. Structure and function of Helicobacter pylori VacA
    Timothy L Cover; Fiscal Year: 2013
    ..There is a high level of genetic variation among vacA alleles from unrelated H...
  45. Genetic Determinants of Lung Injury
    Beverly H Koller; Fiscal Year: 2013 oxidative stress using a unique panel of mice expressing either the protective or disease associated GST alleles. PUBLIC HEALTH RELEVANCE: The lungs are constantly exposed to oxidants both from environmental pollutants and ..
  46. Targeted investigation of tissue specific oxidative stress in the etiology of ALS
    Holly Van Remmen; Fiscal Year: 2013 our laboratory to manipulate the levels of lipid hydroperoxides, a conditional knockout mouse carrying floxed alleles for phospholipid hydroperoxide glutathione peroxidase (Gpx4flfl mice)...
    ..We will isolate conditional cold-sensitive HK alleles in order to rapidly deplete HK function at the non-permissive temperature and thereby pinpoint its precise ..
    Sally A Camper; Fiscal Year: 2013
    ..Gain of function alleles cause transient hypogonadism, delayed puberty, and increased risk of pituitary adenomas, the most common type of ..
  49. Generation of Site-Specific Recombinase-Expressing Transgenic Rats using an Enhan
    Eric M Ostertag; Fiscal Year: 2011 sites and 2) FlpERT2 expression will enable Flp-dependent conditional modification of FRT-containing alleles (generated through other efforts)...
  50. HIV and CD16+ monocytes as cellular reservoir &HIV/pulmonary hypertension
    Sharilyn Almodovar; Fiscal Year: 2013
    ..Furthermore, we have evidence that patients diagnosed with bona fide HRPAH harbor specific nef alleles in the peripheral blood...
  51. Diesel, Allergens and Gene Interaction and Child Atopy
    Grace LeMasters; Fiscal Year: 2009
    ..The central hypothesis is that carriers of variant alleles in nicotine metabolism and/or oxidative stress related genes may have increased systemic nicotine, and therefore ..
  52. The role of the orphan receptor tyrosine kinase Ros1 in vascular disease
    ZIAD ANWAR ALI; Fiscal Year: 2011
    ..Evidence for the importance for Ros1 in cardiovascular disease is suggested by studies linking specific Ros1 alleles and heart disease...
  53. Mechanism of p63-Dependent Tumor Suppression
    Xinbin Chen; Fiscal Year: 2012
    ..p63 developed an increased tumor burden and metastasis rate, which was compounded in mice harboring heterozygous alleles of p53 and/or p73...
  54. Human VGF Polymorphisms and Depression
    Stephen R Salton; Fiscal Year: 2010
    ..In Aim 1 of the R21 phase, we will develop two mouse models that knock human VGF alleles into the mouse Vgf locus, encoding either full length human VGF (amino acids 1-615) or SNP-truncated VGF (amino ..
  55. Factors for Epigenetic Silencing of Lung Cancer Genes
    Steven Belinsky; Fiscal Year: 2009
    ..whether germ-line mutations in lung cancer susceptibility genes are associated with the presence of methylated alleles of p 16 and MGMT in sputum from cancer-free, high-risk subjects...
  56. Genomic profiling of yeast resistance to AFB1, a P450-activated carcinogen
    MICHAEL THOMAS FASULLO; Fiscal Year: 2013
    ..However, human susceptibility to environmental carcinogens is highly variable. Low penetrant alleles may increase the risk for particular environmental-associated cancers...
  57. TNF Alpha in PKC Epsilon Signaling to Carcinogenesis
    Ajit K Verma; Fiscal Year: 2013
    ..Deletion of both TNF1 alleles in PKC5 transgenic mice only partially inhibited (50%, p = 0...
  58. Spinocerebellar Ataxia Type 2 Gene and Gene Product
    Stefan M Pulst; Fiscal Year: 2012
    ..on these findings, we will test the following hypotheses making use of mouse lines expressing knockout or knockin alleles for the two genes: 1) Cav2. 1 modulates the motor and morphologic phenotypes of SCA2-transgenic mice...
  59. Monogonont Rotifers as a Model to Investigate the Biology of Aging
    Terry W Snell; Fiscal Year: 2013
    ..sexual and asexual reproduction in the same genetic background;4) haploid males, allowing direct expression of alleles and simplifying crosses in the absence of complex marker chromosomes;5) production of highly stable diapausing ..
    Alfred L George; Fiscal Year: 2013
    ..1 C-terminus having conserved Ca2+/calmodulin regulatory elements to test the hypothesis that these alleles affect channel function by altering the response of the channel to internal Ca2+ signaling...
  61. Small Oligonucleotides As Therapeutic Agents Of Spinal Muscular Atrophy
    Ravindra N Singh; Fiscal Year: 2012
    ..SMN protein (SMN) in motor neurons and spinal chord due to the loss of functional Survival Motor Neuron (SMN1) alleles. A nearly identical copy of this gene, SMN2, fails to provide protection from SMA due to production of a ..
  62. Functional Consequence of Macrolide Resistance Mutations in T. pallidum
    Sheila A Lukehart; Fiscal Year: 2012
    ..collected from patients in widely disparate geographic regions;2) to sequence the full 23s rRNA genes (both alleles) in a subset of these samples to identify other mutations that might be associated with macrolide resistance;and ..
    Eric Wieschaus; Fiscal Year: 2000
    ..The initial phase of the proposal is a structure function analysis of the arm protein. Most alleles of arm previously identified were selected based on its segment polarity phenotype...
    Martin Kreitman; Fiscal Year: 1999
    ..neutral evolution is independent of population size, but the probability of fixation of slightly deleterious alleles is inversely proportional to population size and the probability of fixation of advantageous alleles is directly ..
  65. Genetic contributors to diabetes and dyslipidemia in African Americans
    Michele M Sale; Fiscal Year: 2010
    ..combination of ancestral and environmental factors results in a more consistent penetrance of diabetes risk alleles, as well as enrichment of risk alleles of African origin...
    Greg Hunt; Fiscal Year: 2000
    ..through the development of specific behavioral assays and markers linked to targeted QTLs; (3) that the alleles at QTLs show genetic dominance; (4) that defensive behavioral QTLs can be precisely mapped by correlating ..
    CHESTER ALPER; Fiscal Year: 1991
    ..evidence for extended major histocompatibility complex (MHC) haplotypes on caucasian chromosomes --specific alleles of HLA-B, DR, BF, C2, C4A, and C4B that occur as fixed sets with limited variation of alleles at other closely ..
    Edmond Yunis; Fiscal Year: 1991
    Current knowledge of the human Major Histocompatibility Complex (MHC) will be used to discover new alleles or genes in the Class II region of chromosome 6p and to better define the extent of non-random association (linkage disequilibrium)..
  69. Effect of Crohn's Disease Risk Alleles on Enteric Microbiota
    Ellen Li; Fiscal Year: 2010
    ..Crohn's disease (CD) risk alleles, such as the NOD2 and ATG16L1, have been associated with defective host containment of commensal bacteria...
  70. Identification of Causal Variants at Novel GWAS Loci Associated with Lipid Traits
    DANIEL JAMES RADER; Fiscal Year: 2010
    ..We need to address allelic heterogeneity, the possibility that multiple alleles within a single gene contribute to trait variation...
  71. Functional characterization of ATP1A1 and DEspR variants associated with essentia
    Nelson Ruiz Opazo; Fiscal Year: 2010
    ..the basis for our current application in which we plan to investigate the ATP1A1 4T ins and DEspR rs6535847 T alleles as potential functional variants accounting for the decreased risk of hypertension susceptibility conferred by ..
    RAYMOND SLAVIN; Fiscal Year: 2001
    ..the characteristics of the immune response in ABPA patients, and has led us to hypothesize that particular HLA alleles fashion T cell repertoires that ultimately either result in ABPA or protective immunity...
  73. Molecular Diagnosis of Dyslexia
    Seiyu Hosono; Fiscal Year: 2007
    ..We developed methods for accurately determining who is a carrier of RD alleles and that could be used for early diagnosis...
    DONALD RIDDLE; Fiscal Year: 1990
    ..the genetic work is to characterize genes encoding subunits of the enzyme, select lethal and conditional-lethal alleles of these genes, and determine the effect of such mutations on normal development and on the expression of ..