Phillips Naomi, Salomon Matthew, Custer Andrew, Ostrow Dejerianne, Baer Charles F
Department of Zoology, University of Florida, USA.
Mol Biol Evol. 2009 Mar;26(3):659-69. doi: 10.1093/molbev/msn287. Epub 2008 Dec 23.
Understanding the evolutionary processes responsible for shaping genetic variation within and between species requires separating the effects of mutation and selection. Differences between the patterns of genetic variation observed in nature and when mutations are allowed to accumulate in the relative absence of selection can reveal biases imposed by selection. We characterize the genetic variation at dinucleotide microsatellite repeats in four sets of 250-generation mutation accumulation (MA) lines, two in the species Caenorhabditis briggsae and two in Caenorhabditis elegans, and compare the mutational variation with the standing variation in those species. We also compare the mutational properties of microsatellites with the cumulative effects of mutations on fitness in the same lines. Integrated over the whole genome, we infer that the mutation rate of C. briggsae is about twice that of C. elegans, consistent with the cumulative mutational effects on fitness. The mutational spectrum (ratio of insertions to deletions) differs between repeat types and, in some cases, between species. The per-locus mutation rate is significantly positively correlated with the standing genetic variation at the same locus in both species, providing justification for the common practice of using the standing genetic variance as a surrogate for the mutation rate.
要理解塑造物种内部和物种之间遗传变异的进化过程,需要区分突变和选择的影响。在自然界观察到的遗传变异模式,与在相对缺乏选择的情况下允许突变积累时的遗传变异模式之间的差异,能够揭示选择所施加的偏差。我们对四组经过250代突变积累(MA)的品系中的二核苷酸微卫星重复序列的遗传变异进行了表征,其中两组来自秀丽隐杆线虫(Caenorhabditis briggsae),两组来自秀丽隐杆线虫(Caenorhabditis elegans),并将这些突变变异与这些物种中的现存变异进行了比较。我们还比较了微卫星的突变特性与同一品系中突变对适合度的累积效应。整合整个基因组后,我们推断,秀丽隐杆线虫(C. briggsae)的突变率约为秀丽隐杆线虫(C. elegans)的两倍,这与对适合度的累积突变效应一致。突变谱(插入与缺失的比率)在重复类型之间存在差异,在某些情况下,在物种之间也存在差异。在这两个物种中,每个位点的突变率与同一位点的现存遗传变异显著正相关,这为使用现存遗传方差作为突变率替代指标的常见做法提供了依据。