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首页> 外文期刊>The Journal of investigative dermatology. >A novel mouse type I intermediate filament gene, keratin 17n (k17n), exhibits preferred expression in nail tissue.
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A novel mouse type I intermediate filament gene, keratin 17n (k17n), exhibits preferred expression in nail tissue.

机译：一种新型的I型小鼠中间细丝基因角蛋白17n（k17n）在指甲组织中表现出优选的表达。

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摘要

Inactivating the type I keratin 17 gene (mK17) causes severe but reversible hair loss in a strain-dependent fashion in mouse (McGowan et al, Genes Dev. 16:1412, 2002). Missense mutations in human K17 give rise to two dominantly inherited disorders apparented to ectodermal dysplasias, pachyonychia congenita (PC), and steatocystoma multiplex (SM). In contrast to the null phenotype in mouse, marked lesions are seen in the nail and nail bed and sebaceous glands of PC and SM patients, respectively. In an effort to understand the lack of nail involvement in mK17 null mice, we discovered that the gene located immediately 5' upstream from mK17 is functional and encodes a type I keratin protein highly analogous to mK17. mRNA and protein localization studies show that the expression of this novel gene is highly restricted and most prevalent in the nail bed and matrix, leading to its designation as mK17n (n stands for nail). Weak expression of mK17n also occurs in vibrissae follicles, in filiform and fungiform papillae of oral mucosa. These findings have direct implications for the mK17 null phenotype. Depending on the existence of a human ortholog or a functional equivalent, our findings may also provide a molecular explanation for several unusual aspects of hK17-based diseases.
机译：使小鼠中的I型角蛋白17基因（mK17）失活会导致严重但可逆的脱发（McGowan等人，Genes Dev.16：1412，2002）。人K17的错义突变会导致两种主要遗传性疾病，表现为外胚层发育异常，先天性肺炎（PC）和多发性脂肪囊瘤（SM）。与小鼠的无效表型相反，PC和SM患者的指甲，指甲床和皮脂腺分别可见明显的病变。为了了解在mK17 null小鼠中钉子缺乏的参与，我们发现位于mK17上游5'处的基因具有功能，并编码与mK17高度相似的I型角蛋白。 mRNA和蛋白质定位研究表明，该新基因的表达受到高度限制，并且在指甲床和基质中最为普遍，因此被命名为mK17n（n代表指甲）。 mK17n的弱表达也发生在口腔粘膜的触须毛囊，丝状和真菌状乳头中。这些发现对mK17无效表型有直接影响。取决于人类直系同源物或功能等同物的存在，我们的发现还可能为基于hK17的疾病的几个异常方面提供分子解释。

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