2. Academic Validation
  3. Alopecia universalis associated with a mutation in the human hairless gene

Alopecia universalis associated with a mutation in the human hairless gene

  • Science. 1998 Jan 30;279(5351):720-4. doi: 10.1126/science.279.5351.720.
W Ahmad 1,  M Faiyaz ul Haque,  V Brancolini,  H C Tsou,  S ul Haque,  H Lam,  V M Aita,  J Owen,  M deBlaquiere,  J Frank,  P B Cserhalmi-Friedman,  A Leask,  J A McGrath,  M Peacocke,  M Ahmad,  J Ott,  A M Christiano
Affiliations

Affiliation

  • 1 Department of Dermatology, Columbia University, 630 West 168 Street, VC-15-526, New York, NY 10032, USA.
PMID: 9445480 DOI: 10.1126/science.279.5351.720
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.

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