Alopecia Universalis Associated with a Mutation in the Human Hairless Gene

• Published in: Science (American Association for the Advancement of Science) 1998-01, Vol.279 (5351), p.720-724
• Main Authors: Ahmad, Wasim, Muhammad Faiyaz ul Haque, Brancolini, Valeria, Tsou, Hui C., Haque, Sayed ul, Lam, HaMut, Aita, Vincent M., Owen, Jason, deBlaquiere, Michelle, Frank, Jorge, Cserhalmi-Friedman, Peter B., Leask, Andrew, McGrath, John A., Peacocke, Monica, Ahmad, Mahmud, Ott, Jurg, Christiano, Angela M.
• Format: Article
• Language: English
• Subjects: Alleles; Alopecia; Alopecia - genetics; Amino Acid Sequence; Animals; Baldness; Biological and medical sciences; Brain - metabolism; Chromosome Mapping; Chromosomes; Chromosomes, Human, Pair 8; Classical genetics, quantitative genetics, hybrids; Dermatology; DNA-Binding Proteins - genetics; Etiology; Evidence; Female; Forkhead Transcription Factors; Fundamental and applied biological sciences. Psychology; Gene Expression; Genes; Genes, Recessive; Genetic aspects; Genetic mutation; Genetics of eukaryotes. Biological and molecular evolution; Hair; Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue; Heredity; Homozygote; Human; Humans; Male; Medical sciences; Messenger RNA; Mice; Mice, Hairless - genetics; Microsatellite Repeats; Molecular Sequence Data; Mutation; Numbers; Pedigree; Physiological aspects; Proteins - chemistry; Proteins - genetics; Rats; Scalp; Sequence Analysis, DNA; Sequence Homology, Amino Acid; Skin - metabolism; Transcription Factors - genetics; Zinc Fingers
• ISSN: 0036-8075; 1095-9203
• DOI: 10.1126/science.279.5351.720

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 8p 12 (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.