人类无毛基因锌指结构域中的一个错义突变是一个爱尔兰旅行者家族先天性无毛症的病因。
A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers.
作者信息
Ahmad W, Irvine A D, Lam H, Buckley C, Bingham E A, Panteleyev A A, Ahmad M, McGrath J A, Christiano A M
机构信息
Department of Dermatolog, Columbia University, New York, USA.
出版信息
Am J Hum Genet. 1998 Oct;63(4):984-91. doi: 10.1086/302069.
Abstract
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.
摘要
先天性无毛症是一种罕见的、隐性遗传的脱发形式，影响男性和女性，其特征是完全没有毛囊。最近，人类无毛基因的突变与先天性无毛症的发病机制有关。人类无毛基因编码一种假定的单锌指转录因子蛋白，在大脑和皮肤中表达受限，据信它在毛发周期中调节退行期重塑。在本研究中，我们报告在一个患有先天性无毛症的爱尔兰游民的大型近亲家族中，在无毛基因的锌指结构域中鉴定出一个错义突变。突变的精氨酸残基在人类、小鼠和大鼠中保守，表明它对锌指结构域的功能至关重要。
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