Department of Biology, Tufts University, Medford, MA 02155, United States.
Curr Opin Genet Dev. 2013 Jun;23(3):280-8. doi: 10.1016/j.gde.2013.04.009. Epub 2013 May 29.
Expansions of microsatellite DNA repeats contribute to the inheritance of nearly 30 developmental and neurological disorders. Significant progress has been made in elucidating the molecular mechanisms of repeat expansions using various model organisms and mammalian cell culture, and models implicating nearly all DNA transactions such as replication, repair, recombination, and transcription have been proposed. It is likely that different models of repeat expansions are not mutually exclusive and may explain repeat instability for different developmental stages and tissues. This review focuses on the contributions from studies in budding yeast toward unraveling the mechanisms and genetic control of repeat expansions, highlighting similarities and differences of replication models and describing a balancing act hypothesis to account for apparent discrepancies.
微卫星 DNA 重复序列的扩展导致了近 30 种发育和神经疾病的遗传。利用各种模式生物和哺乳动物细胞培养,已经在阐明重复扩展的分子机制方面取得了重大进展,并提出了几乎所有的 DNA 交易模型,如复制、修复、重组和转录。不同的重复扩展模型可能不是相互排斥的,并且可能解释了不同发育阶段和组织的重复不稳定性。这篇综述重点介绍了芽殖酵母研究对重复扩展机制和遗传控制的贡献,突出了复制模型的相似性和差异,并描述了一个平衡作用假说来解释明显的差异。