Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family

被引:80
作者
Ahmad, W
Zlotogorski, A
Panteleyev, AA
Lam, H
Ahmad, M
ul Haque, MF
Abdallah, HM
Dragan, L
Christiano, AM [1 ]
机构
[1] Columbia Univ Coll Phys & Surg, Dept Dermatol, 630 W 168th St VC15-1526, New York, NY 10032 USA
[2] Columbia Univ Coll Phys & Surg, Dept Genet & Dev, New York, NY 10032 USA
[3] Hadassah Univ Hosp, Dept Dermatol, Jerusalem, Israel
[4] Quaid I Azam Univ, Dept Biol Sci, Islamabad, Pakistan
[5] Cedars Sinai Res Inst, Div Med Genet, Los Angeles, CA 90048 USA
[6] Dept Publ Hlth, Ramallah, Palestine
[7] Univ Chicago, Sch Med, Dermatol Sect, Chicago, IL 60637 USA
关键词
D O I
10.1006/geno.1998.5699
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
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.
引用
收藏
页码:141 / 148
页数:8
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