title: Alopecia universalis associated with a mutation in the human hairless gene.
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.
authors.affiliation: Department of Dermatology, Columbia University, 630 West 168 Street, VC-15-526, New York, NY 10032, USA.
authors.forename: W
authors.initials: W
authors.lastname: Ahmad
authors.forename: M
authors.initials: M
authors.lastname: Faiyaz ul Haque
authors.forename: V
authors.initials: V
authors.lastname: Brancolini
authors.forename: H C
authors.initials: HC
authors.lastname: Tsou
authors.forename: S
authors.initials: S
authors.lastname: ul Haque
authors.forename: H
authors.initials: H
authors.lastname: Lam
authors.forename: V M
authors.initials: VM
authors.lastname: Aita
authors.forename: J
authors.initials: J
authors.lastname: Owen
authors.forename: M
authors.initials: M
authors.lastname: deBlaquiere
authors.forename: J
authors.initials: J
authors.lastname: Frank
authors.forename: P B
authors.initials: PB
authors.lastname: Cserhalmi-Friedman
authors.forename: A
authors.initials: A
authors.lastname: Leask
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
authors.forename: M
authors.initials: M
authors.lastname: Peacocke
authors.forename: M
authors.initials: M
authors.lastname: Ahmad
authors.forename: J
authors.initials: J
authors.lastname: Ott
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D000505:Alopecia / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001921:Brain / Q000378:metabolism; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D051858:Forkhead Transcription Factors; D015870:Gene Expression; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D008297:Male; D051379:Mice; D008812:Mice, Hairless / Q000235:genetics; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D051381:Rats; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D012867:Skin / Q000378:metabolism; D014157:Transcription Factors / Q000235:genetics; D016335:Zinc Fingers
chemical_list: D004268:DNA-Binding Proteins; D051858:Forkhead Transcription Factors; C490267:HR protein, human; D011506:Proteins; D014157:Transcription Factors; C090140:Whn protein; C088661:hr protein, mouse; C490268:hr protein, rat