Alopecia Universalis Associated With a Mutation in the Human Hairless Gene

    January 1998 in “ Science
    Wasim Ahmad, Muhammad Faiyaz ul Haque, Valeria Brancolini, Hui C. Tsou, Sayed ul Haque, HaMut Lam, Vincent M. Aita, Jason E. Owen, Michelle deBlaquiere, Jorge Frank, Peter B. Cserhalmi‐Friedman, Andrew Leask, John A. McGrath, Monica Peacocke, Mahmud Ahmad, Jürg Ott, Angela M. Christiano
    TLDR A mutation in the human hairless gene causes alopecia universalis.
    The study investigated a kindred with a rare, recessively inherited type of alopecia universalis to identify the genetic basis of this condition. Through homozygosity mapping, researchers established linkage in a 6-centimorgan interval on chromosome 8p12, with a significant logarithm of the odds score of 6.19. They identified a missense mutation in the human homolog of the murine hairless gene within this interval. The human hairless gene encodes a putative single zinc finger transcription factor protein, which is expressed in the brain and skin, suggesting its role in the development of alopecia universalis.
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