Journal
EXPERIMENTAL CELL RESEARCH
Volume 313, Issue 10, Pages 2010-2020Publisher
ELSEVIER INC
DOI: 10.1016/j.yexcr.2007.02.032
Keywords
genodermatosis; mutation; monilethrix; loose anagen hair; ectodermal dysplasia; inner root sheath; companion layer; review
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The human keratin family comprises 54 members, 28 type I and 26 type II. Out of the 28 type I keratins, 17 are epithelial and II are hair keratins. Similarly, the 26 type 11 members comprise 20 epithelial and 6 hair keratins. As, however, 9 out of the 37 epithelial keratins are specifically expressed in the hair follicle, the total number of hair follicle-specific keratins (26) almost equals that of those expressed in the various forms of epithelia (28). Up to now, more than half of the latter have been found to be involved in inherited diseases, with mutated type I and type II members being roughly equally causal. In contrast, out of the 26 hair follicle-specific keratins only S have, at present, been associated with inherited hair disorders, while one keratin merely acts as a risk factor. In addition, all hair follicle-specific keratins involved in pathologies are type II keratins. Here we provide a detailed description of the respective hair diseases which are either due to mutations in hair keratins (monilethrix, ectodermal dysplasia of hair and nail type) or hair follicle-specific epithelial keratins (two mouse models, RCO3 and Ca-Rin as well as pseudofolliculitis barbae). (c) 2007 Elsevier Inc. All rights reserved.
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