SMCHD1 的多面性。
Many faces of SMCHD1.
机构信息
Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
出版信息
Nat Genet. 2017 Jan 31;49(2):176-178. doi: 10.1038/ng.3776.
DOI:10.1038/ng.3776
PMID:28138148
Abstract
The chromatin scaffolding protein SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) was previously shown to have diverse roles in X-chromosome inactivation, imprinting and double-strand break repair, and mutations in SMCHD1 contribute to a type of muscular dystrophy. Now, development of the nose and eyes is added to its list of functions.
摘要
染色质支架蛋白 SMCHD1（结构性维持染色体灵活铰链域包含 1）先前被证明在 X 染色体失活、印迹和双链断裂修复中具有多种作用，SMCHD1 的突变导致一种肌肉营养不良。现在，鼻子和眼睛的发育也被加入到它的功能列表中。
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