Epistasis, Genetic

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  Subject Areas on Research

  • A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 
  • A centenarian-only approach for assessing gene-gene interaction in human longevity. 
  • A comprehensive genome-wide analysis of melanoma Breslow thickness identifies interaction between CDC42 and SCIN genetic variants. 
  • A genome-wide RNAi screen reveals multiple regulators of caspase activation. 
  • A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A 
  • A hybrid framework for genome wide epistasis discovery. 
  • A tripartite interaction among alleles of Notch, Delta, and Enhancer of split during imaginal development of Drosophila melanogaster. 
  • Activation of an EDS1-mediated R-gene pathway in the snc1 mutant leads to constitutive, NPR1-independent pathogen resistance. 
  • Adaptive evolution: evaluating empirical support for theoretical predictions. 
  • An "almost exhaustive" search-based sequential permutation method for detecting epistasis in disease association studies. 
  • An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder. 
  • Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. 
  • Assessment of LD matrix measures for the analysis of biological pathway association. 
  • Associations of PI3KR1 and mTOR polymorphisms with esophageal squamous cell carcinoma risk and gene-environment interactions in Eastern Chinese populations. 
  • Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis. 
  • CD19 hyperexpression augments Sle1-induced humoral autoimmunity but not clinical nephritis. 
  • Coevolution of self-fertilization and inbreeding depression. III. Homozygous lethal mutations at multiple loci. 
  • Comparative analysis of quantitative trait loci controlling glucosinolates, myrosinase and insect resistance in Arabidopsis thaliana. 
  • Complete genomic screen for disease susceptibility loci in nuclear families. 
  • Constitutive disease resistance requires EDS1 in the Arabidopsis mutants cpr1 and cpr6 and is partially EDS1-dependent in cpr5. 
  • Cytokinesis proteins Tum and Pav have a nuclear role in Wnt regulation. 
  • Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. 
  • Dependence of epistasis on environment and mutation severity as revealed by in silico mutagenesis of phage t7. 
  • Dependence of the regulation of telomere length on the type of subtelomeric repeat in the yeast Saccharomyces cerevisiae. 
  • Dissection of epistasis in oligogenic Bardet-Biedl syndrome. 
  • Dissection of genetic pathways in C. elegans. 
  • Drosophila APC2 is a cytoskeletally-associated protein that regulates wingless signaling in the embryonic epidermis. 
  • Epistasis among Drosophila persimilis factors conferring hybrid male sterility with D. pseudoobscura bogotana. 
  • Epistasis and balanced polymorphism influencing complex trait variation. 
  • Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. 
  • Epistasis between a set of variations located in the TAAR6 and HSP-70 genes toward schizophrenia and response to antipsychotic treatment. 
  • Epistasis between polymorphisms in COMT, ESR1, and GCH1 influences COMT enzyme activity and pain. 
  • Epistasis modifies the dominance of loci causing hybrid male sterility in the Drosophila pseudoobscura species group. 
  • Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium. 
  • Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease. 
  • Epistatic roles for Pseudomonas aeruginosa MutS and DinB (DNA Pol IV) in coping with reactive oxygen species-induced DNA damage. 
  • Evidence of biologic epistasis between BDNF and SLC6A4 and implications for depression. 
  • Examination of the roles of Sgs1 and Srs2 helicases in the enforcement of recombination fidelity in Saccharomyces cerevisiae. 
  • From genotype to phenotype: systems biology meets natural variation. 
  • Functional genomic analysis of phagocytosis and identification of a Drosophila receptor for E. coli. 
  • Fungal genome and mating system transitions facilitated by chromosomal translocations involving intercentromeric recombination. 
  • G protein-coupled receptor Gpr4 senses amino acids and activates the cAMP-PKA pathway in Cryptococcus neoformans. 
  • Genes Involved in Neurodevelopment, Neuroplasticity, and Bipolar Disorder: CACNA1C, CHRNA1, and MAPK1. 
  • Genetic interactions among regulators of septin organization. 
  • Genetic interactions between Shox2 and Hox genes during the regional growth and development of the mouse limb. 
  • Genetic polymorphisms in tumor necrosis factor (TNF)-alpha and TNF-beta in a population-based study of systemic lupus erythematosus: associations and interaction with the interleukin-1alpha-889 C/T polymorphism. 
  • Genome-wide architecture of reproductive isolation in a naturally occurring hybrid zone between Mus musculus musculus and M. m. domesticus. 
  • Gpr1, a putative G-protein-coupled receptor, regulates morphogenesis and hypha formation in the pathogenic fungus Candida albicans. 
  • Heritability of respiratory infection with Pseudomonas aeruginosa in cystic fibrosis. 
  • Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. 
  • Human Epistatic Interaction Controls IL7R Splicing and Increases Multiple Sclerosis Risk. 
  • Identification of quantitative trait loci influencing wood specific gravity in an outbred pedigree of loblolly pine. 
  • In vitro characterization of 6-[18F]fluoro-A-85380, a high-affinity ligand for alpha4beta2* nicotinic acetylcholine receptors. 
  • Integrated pathway and epistasis analysis reveals interactive effect of genetic variants at TERF1 and AFAP1L2 loci on melanoma risk. 
  • Interaction Between Peroxisome Proliferator Activated Receptor δ and Epithelial Membrane Protein 2 Polymorphisms Influences HDL-C Levels in the Chinese Population. 
  • Interactions of IL-12A and IL-12B polymorphisms on the risk of cervical cancer in Chinese women. 
  • Investigation of an epistastic effect between a set of TAAR6 and HSP-70 genes variations and major mood disorders. 
  • Investigation of possible epistatic interactions between GRIA2 and GRIA4 variants on clinical outcomes in patients with major depressive disorder. 
  • Kernel canonical correlation analysis for assessing gene-gene interactions and application to ovarian cancer. 
  • Lack of influence of rs4680 (COMT) and rs6276 (DRD2) on diagnosis and clinical outcomes in patients with major depression. 
  • Loss of Drosophila melanogaster p21-activated kinase 3 suppresses defects in synapse structure and function caused by spastin mutations. 
  • MCP1 SNPs and pulmonary tuberculosis in cohorts from West Africa, the USA and Argentina: lack of association or epistasis with IL12B polymorphisms. 
  • Mapping of QTL for resistance against the crucifer specialist herbivore Pieris brassicae in a new Arabidopsis inbred line population, Da(1)-12 x Ei-2. 
  • Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis. 
  • Mitochondrial Genome Variation Affects Multiple Respiration and Nonrespiration Phenotypes in Saccharomyces cerevisiae. 
  • Model selection in binary trait locus mapping. 
  • Modeling a genetic risk for schizophrenia in iPSCs and mice reveals neural stem cell deficits associated with adherens junctions and polarity. 
  • Multifactor dimensionality reduction reveals gene-gene interactions associated with multiple sclerosis susceptibility in African Americans. 
  • Mutation accumulation may be a minor force in shaping life history traits. 
  • Natural and orthogonal model for estimating gene-gene interactions applied to cutaneous melanoma. 
  • Novel likelihood ratio tests for screening gene-gene and gene-environment interactions with unbalanced repeated-measures data. 
  • Pde1 phosphodiesterase modulates cyclic AMP levels through a protein kinase A-mediated negative feedback loop in Cryptococcus neoformans. 
  • Protein phosphatase 2A and its B56 regulatory subunit inhibit Wnt signaling in Xenopus. 
  • Recombination and the divergence of hybridizing species. 
  • Reduced mRNA expression of nucleotide excision repair genes in lymphocytes and risk of squamous cell carcinoma of the head and neck. 
  • Regulation of mitotic homeologous recombination in yeast. Functions of mismatch repair and nucleotide excision repair genes. 
  • Regulators of pseudohyphal differentiation in Saccharomyces cerevisiae identified through multicopy suppressor analysis in ammonium permease mutant strains. 
  • Requirement for the vasa RNA helicase in gurken mRNA localization. 
  • Role of Cdc42p in pheromone-stimulated signal transduction in Saccharomyces cerevisiae. 
  • Role of mismatch repair in the fidelity of RAD51- and RAD59-dependent recombination in Saccharomyces cerevisiae. 
  • Roles of RAD6 epistasis group members in spontaneous polzeta-dependent translesion synthesis in Saccharomyces cerevisiae. 
  • Scarecrow-like 3 promotes gibberellin signaling by antagonizing master growth repressor DELLA in Arabidopsis. 
  • Searching for epistatic interactions in nuclear families using conditional linkage analysis. 
  • Sequential elimination of major-effect contributors identifies additional quantitative trait loci conditioning high-temperature growth in yeast. 
  • Sex-specific incompatibility generates locus-specific rates of introgression between species. 
  • Shared genetic pathways contribute to the tolerance of endogenous and low-dose exogenous DNA damage in yeast. 
  • Stall encodes an ADAMTS metalloprotease and interacts genetically with Delta in Drosophila ovarian follicle formation. 
  • Studying genetic resilience to improve human health. 
  • Summary of contributions to GAW15 Group 13: candidate gene association studies. 
  • The APOE4 allele shows opposite sex bias in microbleeds and Alzheimer's disease of humans and mice. 
  • The HMG-box transcription factor SoxNeuro acts with Tcf to control Wg/Wnt signaling activity. 
  • The earliest stages of adaptation in an experimental plant population: strong selection on QTLS for seed dormancy. 
  • The genetic architecture of biofilm formation in a clinical isolate of Saccharomyces cerevisiae. 
  • The genetic bases of divergence in desiccation and starvation resistance among tropical and temperate populations of Drosophila melanogaster. 
  • The whole-genome landscape of medulloblastoma subtypes. 
  • Uncoupling PR gene expression from NPR1 and bacterial resistance: characterization of the dominant Arabidopsis cpr6-1 mutant. 
  • Understanding rice adaptation to varying agro-ecosystems: trait interactions and quantitative trait loci. 
  • Unifying genetic canalization, genetic constraint, and genotype-by-environment interaction: QTL by genomic background by environment interaction of flowering time in Boechera stricta. 
  • Use of pathway information in molecular epidemiology. 
  • Yeast pseudohyphal growth is regulated by GPA2, a G protein alpha homolog. 
  • Zebrafish second heart field development relies on progenitor specification in anterior lateral plate mesoderm and nkx2.5 function. 
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  Keywords of People

  • Bejsovec, Amy, Associate Professor of Biology, Biology
  • Davis, Erica Ellen, Associate Professor of Pediatrics, Cell Biology
  • Mitchell-Olds, Thomas, Newman Ivey White Professor of Biology in Trinity College of Arts and Sciences, Biology