Gene: [08p12/HR] hairless (mouse) homolog (transcription factor?); alopecia universalis congenitalis, autosomal recessive (MIM:203655);
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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)." |
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FUN |
The human 'hairless' gene encodes a putative single zinc finger transcription factor with restricted expression in the brain and skin (Ahmad-1998)." |
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PAT |
The main symptom alopecia universalis ('recessive atrichia') is absence of hair in hair follicles on skin biopsy (Pinheiro-1985)." |
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CAG |
Alopecia universalis is clearly distinct from alopecia areata (MIM:104000), which has an autoimmune basis with probable genetic predisposition." |
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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 |
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KEY |
derm, trc |
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CLA |
coding, basic |
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LOC |
08 p12 |
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MIM |
MIM: 602302 |
