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小鼠生殖系中串联重复DNA位点自发突变的阶段特异性。

Stage-specificity of spontaneous mutation at a tandem repeat DNA locus in the mouse germline.

作者信息

Shanks Morag, Riou Lydia, Fouchet Pierre, Dubrova Yuri E

机构信息

Department of Genetics, University of Leicester, Leicester, University Road, Leicester LE1 7RH, United Kingdom.

出版信息

Mutat Res. 2008 May 10;641(1-2):58-60. doi: 10.1016/j.mrfmmm.2008.03.006. Epub 2008 Mar 26.

Abstract

Mouse expanded simple tandem repeat (ESTR) loci are the most unstable loci in the mouse genome. Despite the fact that over the last decade these loci have been extensively used for studying germline mutation induction in mice, to date little is known about the mechanisms underlying spontaneous and induced ESTR mutation. Here we used flow cytometry and single-molecule PCR to compare the frequency of ESTR mutation in four flow-sorted fractions of the mouse male germ cells - spermatogonia, spermatocytes I, round and elongated spermatids. The frequency and the spectrum of ESTR mutation did not significantly differ between different stages of mouse spermatogenesis. Considering these data and the results of other publications, we propose that spontaneous ESTR mutation is mostly attributed to replication slippage in spermatogonia and these loci may be regarded as a class of expanded microsatellites.

摘要

小鼠扩展简单串联重复序列(ESTR)位点是小鼠基因组中最不稳定的位点。尽管在过去十年中这些位点已被广泛用于研究小鼠种系突变诱导,但迄今为止,对于自发和诱导的ESTR突变的潜在机制知之甚少。在这里,我们使用流式细胞术和单分子PCR来比较小鼠雄性生殖细胞的四个流式分选部分——精原细胞、初级精母细胞、圆形和伸长的精子细胞中ESTR突变的频率。在小鼠精子发生的不同阶段,ESTR突变的频率和谱没有显著差异。考虑到这些数据和其他出版物的结果,我们提出自发的ESTR突变主要归因于精原细胞中的复制滑动,并且这些位点可被视为一类扩展的微卫星。

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