Home LiteratureArticle Details

PMID: 9445480 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

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

Science (New York, N.Y.) ·Vol. 279 ·No. 5351 ·1998-01-30 ·Pages 720-4

Ahmad W, Faiyaz ul Haque M, Brancolini V, Tsou HC, ul Haque S, Lam H, Aita VM, Owen J, deBlaquiere M, Frank J, Cserhalmi-Friedman PB, Leask A, McGrath JA, Peacocke M, Ahmad M, Ott J, Christiano AM

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.

MeSH Terms

Alopecia/genetics Amino Acid Sequence Animals Brain/metabolism Chromosome Mapping Chromosomes, Human, Pair 8 DNA-Binding Proteins/genetics Female Forkhead Transcription Factors Gene Expression Genes, Recessive Homozygote Humans Male Mice Mice, Hairless/genetics Microsatellite Repeats Molecular Sequence Data Mutation Pedigree Proteins/chemistry,genetics Rats Sequence Analysis, DNA Sequence Homology, Amino Acid Skin/metabolism Transcription Factors/genetics Zinc Fingers

Chemicals

DNA-Binding Proteins Forkhead Transcription Factors HR protein, human Proteins Transcription Factors Whn protein hr protein, mouse hr protein, rat

Authors & Affiliations

17 authors, click to expand affiliations / ORCID

Ahmad W

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

Faiyaz ul Haque M

Brancolini V

Tsou H C

ul Haque S

Lam H

Aita V M

Owen J

deBlaquiere M

Frank J

Cserhalmi-Friedman P B

Leask A

McGrath J A

Peacocke M

Ahmad M

Ott J

Christiano A M

Article Info

Journal

Science (New York, N.Y.)

Abbr.

Science

ISSN

0036-8075

DOI

10.1126/science.279.5351.720

Published

1998-01-30

Pages

720-4

Language

English

Region

United States

NLM ID

0404511

Subset

Grants

NHGRI NIH HHS · HG-00008 · United States

NIAMS NIH HHS · P30AR44535 · United States

Databases

GENBANK

AF039196

External Links

PubMed source DOI: 10.1126/science.279.5351.720 View journal details

Analysis Services

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

Contact

WeChat Official Account