Gene: [08p12/HR] hairless (mouse) homolog (transcription factor?); alopecia universalis congenitalis, autosomal recessive (MIM:203655);

COM

A kindred with a rare, recessively inherited type of alopecia universalis was used to search for a locus by homozygosity mapping, and linkage was established in a 6cM interval on Chr 8p12 (the logarithm of the odds favoring linkage score was 6.19). The human homolog of a murine gene, hairless, was localized in this interval by radiation hybrid mapping, and a missense mutation was found in affected individuals (Ahmad-1998)."

FUN

The human 'hairless' gene encodes a putative single zinc finger transcription factor with restricted expression in the brain and skin (Ahmad-1998)."

PAT

The main symptom alopecia universalis ('recessive atrichia') is absence of hair in hair follicles on skin biopsy (Pinheiro-1985)."

CAG

Alopecia universalis is clearly distinct from alopecia areata (MIM:104000), which has an autoimmune basis with probable genetic predisposition."

REF

PAT,FOG "Ahmad M &: Am J Med Genet, 46, 369-371, 1993
LOC,MUT,PAT "Ahmad W &: Science, 279, 720-724, 1998
PAT,FOG "Pinheiro M, Freire-Maia N: Hum Hered, 35, 53-55, 1985
EXP,FUN "Thompson CC: J Neurosci, 16, N24, 7832-7832, 1996

KEY

derm, trc

CLA

coding, basic

LOC

08 p12

MIM

MIM: 602302