A novel missense mutation (C622G) in the zinc-finger domain of the human hairless gene associated with congenital atrichia with papular lesions.
Congenital atrichia with papular lesions is a rare, recessively inherited form of hair loss characterized by a complete absence of all body hair shortly after birth. Mutations in the human ortholog of the mouse hairless (hr) gene have been implicated in the pathogenesis of this disorder. In this study, we screened, by direct sequence analysis, the hairless gene in a family of Polish descent and identified a novel missense mutation (C622G). The mutation alters the third of four invariant cysteins in the zinc-finger domain, which has high homology to the C-X-X-C-(X)17-C-X-X-C structure of the zinc-fingers of the GATA family of transcription factors. The human hairless gene encodes a putative transcription factor with restricted expression in the brain and skin, which is involved in the regulation of apoptosis during catagen remodeling in the hair cycle.
Aita
V M
VM
Department of Genetics and Development, Columbia University, New York, NY 10032, USA.
Ahmad
W
W
Panteleyev
A A
AA
Kozlowska
U
U
Kozlowska
A
A
Gilliam
T C
TC
Jablonska
S
S
Christiano
A M
AM
D000505:Alopecia / Q000150:complications / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D000595:Amino Acid Sequence / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D002648:Child; D003560:Cysts / Q000150:complications / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D012871:Skin Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics; D016335:Zinc Fingers / Q000235:genetics*
C490267:HR protein, human; D011506:Proteins; D014157:Transcription Factors