Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family
Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family
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DOI：
10.1006/geno.1998.5699
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发表时间：
1999-03-01
期刊：
影响因子：
4.4
通讯作者：
Christiano, AM
中科院分区：
文献类型：
--
作者：
Ahmad, W;Zlotogorski, A;Christiano, AM
先天性无毛症是一种罕见的遗传性人类脱发，其特征是出生后不久头发完全脱落，并在皮肤上形成丘疹性病变。最近，我们克隆了小鼠无毛基因的人类同源物，并鉴定了几个患有遗传性先天性无毛症的家族的致病突变。在这里，我们展示了人类无毛基因（HGMW 批准的符号 HR）的基因组组织，该基因在染色体 8p12 上跨越超过 14 kb，并组织成 19 个外显子。此外，我们报告在以色列耶路撒冷附近的一个村庄的一个阿拉伯巴勒斯坦近亲大型家庭的无毛基因外显子 3 中鉴定出 22 bp 缺失突变。这些发现扩展了证据，表明无毛基因突变是人类先天性无毛症的根本原因。 (C) 1999 年学术出版社。
Congenital atrichia is a rare form of hereditary human hair loss, characterized by the complete shedding of hair shortly after birth, together with the formation of papular lesions on the skin. Recently, we cloned the human homolog of the mouse hairless gene and identified pathogenic mutations in several families with inherited congenital atrichia. Here, we present the genomic organization of the human hairless gene (HGMW-approved symbol HR), which spans over 14 kb on chromosome 8p12 and is organized into 19 exons. In addition, we report the identification of a 22-bp deletion mutation in exon 3 of the hairless gene in a large consanguineous Arab Palestinian family from a village near Jerusalem, Israel. These findings extend the body of evidence implicating mutations in the hairless gene as an underlying cause of congenital atrichia in humans. (C) 1999 Academic Press.