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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Alopecia / genetics*
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Amino Acid Sequence
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Animals
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Brain / metabolism
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Chromosome Mapping
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Chromosomes, Human, Pair 8
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DNA-Binding Proteins / genetics
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Female
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Forkhead Transcription Factors
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Gene Expression
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Genes, Recessive
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Homozygote
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Humans
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Male
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Mice
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Mice, Hairless / genetics
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Microsatellite Repeats
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Molecular Sequence Data
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Mutation
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Pedigree
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Proteins / chemistry
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Proteins / genetics*
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Rats
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Sequence Analysis, DNA
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Sequence Homology, Amino Acid
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Skin / metabolism
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Transcription Factors / genetics
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Zinc Fingers*
Substances
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DNA-Binding Proteins
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Forkhead Transcription Factors
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HR protein, human
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Proteins
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Transcription Factors
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Whn protein
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hr protein, mouse
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hr protein, rat