Of hairless mice and men: the genetic basis of congenital alopecia universalis/congenital atrichia.
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.


CONCLUSIONS
A mouse model of congenital alopecia has led to understanding the molecular basis of at least one type of severe human alopecia.
Bale
S J
SJ
Genetic Studies Section, LSB, National Institute of Arthritis & Musculoskeletal & Skin Disease, National Institutes of Health, Bethesda, Maryland 20892-2757, USA.
D000505:Alopecia / Q000151:congenital* / Q000235:genetics; D000818:Animals; D002874:Chromosome Mapping; D003241:Consanguinity; D004195:Disease Models, Animal; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D051379:Mice; D008812:Mice, Hairless / Q000235:genetics*; D010641:Phenotype