Modifier genes in mice and humans.
An emerging theme of studies with spontaneous, engineered and induced mutant mice is that phenotypes often depend on genetic background, implying that genetic modifiers have a role in guiding the functional consequences of genetic variation. Understanding the molecular and cellular basis by which modifier genes exert their influence will provide insights into developmental and physiological pathways that are critical to fundamental biological processes, as well as into novel targets for therapeutic interventions in human diseases.
Department of Genetics, Case Western Reserve University School of Medicine and Center for Human Genetics, University Hospital of Cleveland, 10900 Euclid Avenue, Cleveland, Ohio 44106, USA. jhn4@po.cwru.edu
J H
JH
Nadeau
D000818:Animals; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D015870:Gene Expression; D030342:Genetic Diseases, Inborn / Q000235:genetics; D008040:Genetic Linkage; D005826:Genetics, Medical; D018392:Genomic Imprinting; D005838:Genotype; D006801:Humans; D051379:Mice; D009154:Mutation; D019683:Penetrance; D010641:Phenotype; D011110:Polymorphism, Genetic
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator