A mutation in stratifin is responsible for the repeated epilation (Er) phenotype in mice
A mutation in stratifin is responsible for the repeated epilation (Er) phenotype in mice
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DOI：
10.1038/ng1652
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发表时间：
2005-11-01
期刊：
影响因子：
30.8
通讯作者：
Siracusa, LD
中科院分区：
文献类型：
--
作者：
Herron, BJ;Liddell, RA;Siracusa, LD
Stratifin(SFN，又称14-3-3sigma)在分化的表皮中高表达，并介导细胞周期停滞。SFN在癌症中被抑制，但其在发育过程中的功能尚不明确。我们通过定位克隆在重复脱毛(ER)突变小鼠中发现了SFN基因的插入突变。Er/+小鼠表达了截短的SFN蛋白，这可能与Er/er和Er/+表皮的缺陷以及Er/+小鼠的癌症发生有关。
Stratifin (Sfn, also called 14-3-3 sigma) is highly expressed in differentiating epidermis and mediates cell cycle arrest. Sfn is repressed in cancer, but its function during development is uncharacterized. We identified an insertion mutation in the gene Sfn in repeated epilation (Er) mutant mice by positional cloning. Er/+ mice expressed a truncated Sfn protein, which probably contributes to the defects in Er/Er and Er/+ epidermis and to cancer development in Er/+ mice.