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在小鼠中,stratifin基因的突变导致了反复脱毛(Er)表型。

A mutation in stratifin is responsible for the repeated epilation (Er) phenotype in mice.

作者信息

Herron Bruce J, Liddell Rebecca A, Parker April, Grant Sarah, Kinne Jennifer, Fisher Jill K, Siracusa Linda D

机构信息

Genomics Institute, Wadsworth Center, NYS Dept. of Health, 465 Jordan Road, Albany, New York 12180, USA.

出版信息

Nat Genet. 2005 Nov;37(11):1210-2. doi: 10.1038/ng1652. Epub 2005 Oct 2.

Abstract

Stratifin (Sfn, also called 14-3-3sigma) 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.

摘要

分层蛋白(Sfn,也称为14-3-3西格玛蛋白)在分化的表皮中高度表达,并介导细胞周期停滞。Sfn在癌症中受到抑制,但其在发育过程中的功能尚未明确。我们通过定位克隆在反复脱毛(Er)突变小鼠中鉴定出Sfn基因的一个插入突变。Er/+小鼠表达一种截短的Sfn蛋白,这可能导致Er/Er和Er/+小鼠表皮的缺陷以及Er/+小鼠的癌症发展。

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