Mutation rates in mammalian genomes
Mutation rates in mammalian genomes
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DOI：
10.1073/pnas.022629899
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发表时间：
2002-01-22
影响因子：
11.1
通讯作者：
Subramanian, S
中科院分区：
文献类型：
--
作者：
Kumar, S;Subramanian, S
了解点突变率至关重要，因为突变是遗传新颖性的重要来源，也是人类疾病的重要原因。目前，人们认为基因组内的基因和哺乳动物谱系之间的突变率有很多倍的差异。我们对来自代表胎盘哺乳动物主要群体的物种的 5,669 个基因（17,208 个序列）进行了计算分析，以表征基因组中基因之间以及不同哺乳动物谱系之间的突变率差异程度。我们发现每年的突变率大致恒定，并且基因之间的突变率基本相似。世代长度和生理属性差异很大的谱系之间突变率的相似性表明，复制无关的突变过程对总体突变率的贡献更大。我们的结果表明，哺乳动物基因组平均突变率为每年每个碱基对 2.2 x 10(-9)，这为利用分子钟估计物种和种群分化时间提供了进一步的机会。
Knowledge of the rate of point mutation is of fundamental importance, because mutations are a vital source of genetic novelty and a significant cause of human diseases, Currently, mutation rate is thought to vary many fold among genes within a genome and among lineages in mammals. We have conducted a computational analysis of 5,669 genes (17,208 sequences) from species representing major groups of placental mammals to characterize the extent of mutation rate differences among genes in a genome and among diverse mammalian lineages. We find that mutation rate is approximately constant per year and largely similar among genes. Similarity of mutation rates among lineages with vastly different generation lengths and physiological attributes points to ;a much greater contribution of replication-independent mutational processes to the overall mutation rate. Our results suggest that the average mammalian genome mutation rate is 2.2 x 10(-9) per base pair per year, which provides further opportunities for estimating species and population divergence times by using molecular clocks.