Hair follicle-specific keratins and their diseases.

Abstract:

: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 11 are hair keratins. Similarly, the 26 type II 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 5 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).

journal_name

Exp Cell Res

authors

Schweizer J,Langbein L,Rogers MA,Winter H

doi

10.1016/j.yexcr.2007.02.032

subject

Has Abstract

pub_date

2007-06-10 00:00:00

pages

2010-20

issue

10

eissn

0014-4827

issn

1090-2422

pii

S0014-4827(07)00087-0

journal_volume

313

pub_type

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