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Science. 1998 Jan 30;279(5351):720-4.

Alopecia universalis associated with a mutation in the human hairless gene.

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  • 1Department of Dermatology, Columbia University, 630 West 168 Street, VC-15-526, New York, NY 10032, USA.


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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