Mutation rate variation in the mammalian genome
Mutation rate variation in the mammalian genome
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DOI：
10.1016/j.gde.2003.10.008
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发表时间：
2003-12-01
影响因子：
4
通讯作者：
Webster, MT
中科院分区：
文献类型：
--
作者：
Ellegren, H;Smith, NGC;Webster, MT
哺乳动物基因组大规模测序的最新进展为研究基因序列和非编码部分DNA的差异提供了一种手段。有证据表明，在假定为中性的区域之间，差异水平存在显著差异，这表明整个基因组的突变率存在潜在差异。显然，这种变异发生在不同的尺度上，包括序列上下文效应（相邻核苷酸对单个位点突变率的影响）、染色体内的变异（在千碱基和百万碱基的尺度上）和染色体之间的变异（在常染色体之间以及在常染色体和性染色体之间）。该领域进一步研究的一个重要方面是研究哺乳动物基因组中突变率变异是否存在最终的进化解释。
Recent advances in the large-scale sequencing of mammalian genomes have provided a means to study divergence in not only genic sequences but also in the non-coding bulk of DNA. There is evidence of significant variation in the levels of divergence between presumably neutral regions, pointing at an underlying variation in the rate of mutation across the genome. Apparently, such variation occurs on different scales, including sequence context effects (the influence of neighboring nucleotides on the rate of mutation at individual sites), variation within chromosomes (on the scales of kilobases as well as megabases), and between chromosomes (among autosomes as well as between autosomes and sex chromosomes). An important aspect for further research in this area is to study whether there is an ultimate evolutionary explanation for mutation rate variation within mammalian genomes.