Alopecia Universalis Associated with a Mutation in the Human hairless Gene

Wasim Ahmad1, Muhammad Faiyaz ul Haque2, Valeria Brancolini3, Hui C. Tsou1, Sayed ul Haque2, HaMut Lam1, Vincent M. Aita1, Jason Owen4, Michelle deBlaquiere4, Jorge Frank1, Peter B. Cserhalmi-Friedman1, Andrew Leask5, John A. McGrath6, Monica Peacocke1, Mahmud Ahmad2, Jurg Ott3, Angela M. Christiano 1

1 Department of Dermatology and Department of Genetics and Development, Columbia University, 630 West 168 Street, VC-15-526, New York, NY 10032, USA.
2 Department of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
3 Laboratory for Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA.
4 Research Genetics, Inc., 2130 Memorial Parkway SW, Huntsville, AL 35801, USA.
5 FibroGen, Inc., 260 Littlefield Avenue, South San Francisco, CA 94080, USA.
6 J. A. McGrath, St. John's Institute of Dermatology, St. Thomas' Hospital, Lambeth Palace Road, London, SE1 7EH, UK.

Science , 279 (5351), 720-724 (Jan 30, 1998)

Abstract

There are several forms of hereditary human hair loss, known collectively as alopecias, the molecular bases of which are entirely unknown. A kindred with a rare, recessively inherited type of alopecia universalis was used to search for a locus by homozygosity mapping, and linkage was established in a 6-centimorgan interval on chromosome 8p12 (the logarithm of the odds favoring linkage score was 6.19). The human homolog of a murine gene, hairless, was localized in this interval by radiation hybrid mapping, and a missense mutation was found in affected individuals. Human hairless encodes a putative single zinc finger transcription factor protein with restricted expression in the brain and skin.