黏连蛋白与母亲年龄效应。

Cohesin and the maternal age effect.

作者信息

Gilliland William D, Hawley R Scott

机构信息

Stowers Institute for Medical Research, Kansas City, Missouri 64110, USA.

出版信息

Cell. 2005 Nov 4;123(3):371-3. doi: 10.1016/j.cell.2005.10.018.

DOI:10.1016/j.cell.2005.10.018

PMID:16269329

Abstract

During meiosis in human oocytes, chromosome nondisjunction increases with maternal age, leading to disorders such as Down's syndrome. In a recent study in Nature Genetics, Hodges et al. (2005) show that mice with a mutation in the meiosis-specific cohesin protein SMC1beta exhibit age-dependent defects in meiosis. These defects are similar to those observed in oocytes of older human mothers. Their results implicate an age-dependent loss of function in SMC1beta (or related proteins) in the maternal age effect of humans.

摘要

在人类卵母细胞减数分裂过程中，染色体不分离现象会随着母亲年龄的增长而增加，从而导致诸如唐氏综合征等疾病。在《自然遗传学》最近的一项研究中，霍奇斯等人（2005年）表明，减数分裂特异性黏连蛋白SMC1β发生突变的小鼠在减数分裂中表现出年龄依赖性缺陷。这些缺陷与在年长人类母亲的卵母细胞中观察到的缺陷相似。他们的研究结果表明，在人类的母亲年龄效应中，SMC1β（或相关蛋白）存在年龄依赖性功能丧失。