Alopecia universalis associated with a mutation in the human hairless gene

Wasim Ahmad, Muhammad Faiyaz Ul Haque, Valeria Brancolini, Hui C. Tsou, Sayed Ul Haque, Hamut Lam, Vincent M. Aita, Jason Owen, Michelle DeBlaquiere, Jorge Frank, Peter B. Cserhalmi-Friedman, Andrew Leask, John A. McGrath, Monica Peacocke, Mahmud Ahmad, Jurg Ott, Angela M. Christiano

Research output: Contribution to journalArticlepeer-review

382 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)720-724
Number of pages5
JournalScience
Volume279
Issue number5351
DOIs
Publication statusPublished - 1998 Jan 30

All Science Journal Classification (ASJC) codes

  • General

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