作者: William C. Skarnes , R. Michael Liskay , Allie H. Grossmann , Sean M. Baker , Shelly Verma
DOI: 10.1093/GENETICS/160.1.271
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摘要: DNA mismatch repair (DMR) functions to maintain genome stability. Prokaryotic and eukaryotic cells deficient in DMR show a microsatellite instability (MSI) phenotype characterized by repeat length alterations at sequences. Mice Pms2 , mammalian homolog of bacterial mutL develop cancer display MSI all tissues examined, including the male germ line where frequency ~10% was observed. To determine consequences maternal deficiency on genetic stability, we analyzed F1 progeny from −/− female mice mated with wild-type males. Our analysis indicates that ~9%. also observed paternal alleles, surprising result since alleles were obtained males embryos therefore proficient. We propose mosaicism for is effect results during early cleavage divisions. The absence one-cell leads formation unrepaired replication errors cell divisions zygote. occurrence postzygotic mutation mouse embryo suggests effect, one limited number identified first involve gene.