title: Keratin 71 mutations: from water dogs to woolly hair.
abstract: The study of rare genetic disorders of the hair follicle has resulted in the identification of many causative genes, leading to the potential for the development of novel therapeutic approaches for both inherited and acquired hair disorders. In this issue, Fujimoto et al. identify a missense mutation within the keratin 71 (KRT71) gene as the cause for autosomal dominant woolly hair/hypotrichosis in a Japanese family. This represents the first human mutation in KRT71 to be linked to a hair disorder, establishing this gene as an important determinant of mammalian hair texture. Moreover, this finding provides new insight into the relationship between similar phenotypes resulting from mutations in distinct regulatory pathways and underscores the role of the inner root sheath in human hair growth.
authors.affiliation: Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, New York, USA.
authors.forename: Sivan
authors.initials: S
authors.lastname: Harel
authors.affiliation: Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, New York, USA; Department of Genetics and Development, Columbia University, College of Physicians and Surgeons, New York, New York, USA. Electronic address: amc65@columbia.edu.
authors.forename: Angela M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D020816:Amino Acid Motifs / Q000235:genetics*; D005260:Female; D006201:Hair Diseases / Q000151:congenital* / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007039:Hypotrichosis / Q000453:epidemiology* / Q000235:genetics*; D053564:Keratins, Hair-Specific / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*
chemical_list: C456200:KRT71 protein, human; D053564:Keratins, Hair-Specific