A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers

被引:65
作者
Ahmad, W
Irvine, AD
Lam, H
Buckley, C
Bingham, EA
Panteleyev, AA
Ahmad, M
McGrath, JA
Christiano, AM
机构
[1] Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY 10032 USA
[2] Columbia Univ Coll Phys & Surg, Dept Genet & Dev, New York, NY 10032 USA
[3] Royal Victoria Hosp, Dept Dermatol, Belfast BT12 6BA, Antrim, North Ireland
[4] Waterford Res Hosp, Waterford, Ireland
[5] Quaid I Azam Univ, Dept Biol Sci, Islamabad, Pakistan
[6] St Thomas Hosp, St Johns Inst Dermatol, London, England
关键词
D O I
10.1086/302069
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:984 / 991
页数:8
相关论文
共 29 条
  • [1] ALOPECIA UNIVERSALIS AS A SINGLE ABNORMALITY IN AN INBRED PAKISTANI KINDRED
    AHMAD, M
    ABBAS, H
    HAQUE, S
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 46 (04): : 369 - 371
  • [2] Alopecia universalis associated with a mutation in the human hairless gene
    Ahmad, W
    Haque, WFU
    Brancolini, V
    Tsou, HC
    Haque, SU
    Lam, H
    Aita, VM
    Owen, J
    deBlaquiere, M
    Frank, J
    Cserhalmi-Friedman, PB
    Leask, A
    McGrath, JA
    Peacocke, M
    Ahmad, M
    Ott, J
    Christiano, AM
    [J]. SCIENCE, 1998, 279 (5351) : 720 - 724
  • [3] AHMAD W, IN PRESS MOL BASIS R
  • [4] AHMAD W, IN PRESS MOL BASIS N
  • [5] STRUCTURE AND EXPRESSION OF THE HAIRLESS GENE OF MICE
    CACHONGONZALEZ, MB
    FENNER, S
    COFFIN, JM
    MORAN, C
    STOYE, JP
    BEST, S
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (16) : 7717 - 7721
  • [6] CANTU JM, 1980, CLIN GENET, V17, P209
  • [7] LABEL-RETAINING CELLS RESIDE IN THE BULGE AREA OF PILOSEBACEOUS UNIT - IMPLICATIONS FOR FOLLICULAR STEM-CELLS, HAIR CYCLE, AND SKIN CARCINOGENESIS
    COTSARELIS, G
    SUN, TT
    LAVKER, RM
    [J]. CELL, 1990, 61 (07) : 1329 - 1337
  • [8] DAMSTE J, 1954, DERMATOLOGICA, V108, P114
  • [9] del Castillo V, 1974, Int J Dermatol, V13, P261
  • [10] TYPE-II HYPERPROLINEMIA IN A PEDIGREE OF IRISH TRAVELERS (NOMADS)
    FLYNN, MP
    MARTIN, MC
    MOORE, PT
    STAFFORD, JA
    FLEMING, GA
    PHANG, JM
    [J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1989, 64 (12) : 1699 - 1707