S J Bale1. 1. Genetic Studies Section, LSB, National Institute of Arthritis & Musculoskeletal & Skin Disease, National Institutes of Health, Bethesda, Maryland 20892-2757, USA.
Abstract
BACKGROUND: Mouse models of human diseases help identify gene defects. OBJECTIVE: The methods of homozygosity mapping and mouse/human homology to identify genes are reviewed. The genotype/phenotype correlation in two clinical entities with mutations in the human hairless gene are discussed. METHODS: The example of the hairless mouse's contribution to our knowledge of hereditary alopecia is used, and the utility of consanguineous families for genetic studies is highlighted. RESULTS: Mutations in the human homolog of the mouse hairless gene lead to congenital alopecia universalis and atrichia with papules. CONCLUSION: A mouse model of congenital alopecia has led to understanding the molecular basis of at least one type of severe human alopecia.
BACKGROUND:Mouse models of human diseases help identify gene defects. OBJECTIVE: The methods of homozygosity mapping and mouse/human homology to identify genes are reviewed. The genotype/phenotype correlation in two clinical entities with mutations in the humanhairless gene are discussed. METHODS: The example of the hairlessmouse's contribution to our knowledge of hereditary alopecia is used, and the utility of consanguineous families for genetic studies is highlighted. RESULTS: Mutations in the human homolog of the mousehairless gene lead to congenital alopecia universalis and atrichia with papules. CONCLUSION: A mouse model of congenital alopecia has led to understanding the molecular basis of at least one type of severe humanalopecia.
Authors: Sherri M Jones; Kenneth R Johnson; Heping Yu; Lawrence C Erway; Kumar N Alagramam; Natasha Pollak; Timothy A Jones Journal: J Assoc Res Otolaryngol Date: 2005-12