Journal of cutaneous medicine and surgery · 1999
Of hairless mice and men: the genetic basis of congenital alopecia universalis/congenital atrichia.
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Bale S J
Аннотация
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.
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.