A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers.
Congenital atrichia is a rare, recessively inherited form of hair loss affecting both males and females and is characterized by a complete absence of hair follicles. Recently, a mutation in the human hairless gene was implicated in the pathogenesis of congenital atrichia. The human hairless gene encodes a putative single zinc-finger transcription-factor protein with restricted expression in brain and skin, which is believed to regulate catagen remodeling in the hair cycle. In this study, we report the identification of a missense mutation in the zinc-finger domain of the hairless gene in a large inbred family of Irish Travellers with congenital atrichia. The mutated arginine residue is conserved among human, mouse, and rat, suggesting that it is of significant importance to the function of the zinc-finger domain.
Department of Dermatolog, Columbia University, New York, USA.
W
W
Ahmad
A D
AD
Irvine
H
H
Lam
C
C
Buckley
E A
EA
Bingham
A A
AA
Panteleyev
M
M
Ahmad
J A
JA
McGrath
A M
AM
Christiano
D000505:Alopecia / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D000595:Amino Acid Sequence; D003241:Consanguinity; D005260:Female; D018859:Hair Follicle / Q000473:pathology; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007494:Ireland / Q000453:epidemiology; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D011506:Proteins / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D012873:Skin Diseases, Genetic / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D014157:Transcription Factors; D016335:Zinc Fingers / Q000235:genetics*
C490267:HR protein, human; D011506:Proteins; D014157:Transcription Factors; C490268:hr protein, rat