Gao Li-Zhi, Xu Hongyan
Plant Germplasm and Genomics Center, Kunming Institute of Botany, The Chinese Academy of Sciences, Kunming 650204, PR China.
BMC Evol Biol. 2008 Jan 16;8:11. doi: 10.1186/1471-2148-8-11.
Mutation rate (mu) per generation per locus is an important parameter in the models of population genetics. Studies on mutation rate and its variation are of significance to elucidate the extent and distribution of genetic variation, further infer evolutionary relationships among closely related species, and deeply understand genetic variation of genomes. However, patterns of rate variation of microsatellite loci are still poorly understood in plant species. Furthermore, how their mutation rates vary in di-, tri-, and tetra-nucleotide repeats within the species is largely uninvestigated across related plant genomes.
Genome-wide variation of mutation rates was first investigated by means of the composite population parameter theta (theta = 4Nmu, where N is the effective population size and mu is the mutation rate per locus per generation) in four subspecies of Asian cultivated rice O. sativa and its three related species, O. rufipogon, O. glaberrima, and O. officinalis. On the basis of three data sets of microsatellite allele frequencies throughout the genome, population mutation rate (theta) was estimated for each locus. Our results reveal that the variation of population mutation rates at microsatellites within each studied species or subspecies of cultivated rice can be approximated with a gamma distribution. The mean population mutation rates of microsatellites do not significantly differ in motifs of di-, tri-, and tetra-nucleotide repeats for the studied rice species. The shape parameter was also estimated for each subspecies of rice as well as other related rice species. Of them, different subspecies of O. sativa possesses similar shape parameters (alpha) of the gamma distribution, while other species extensively vary in their population mutation rates.
Through the analysis of genome-wide microsatellite data, the population mutation rate can be approximately fitted with a gamma distribution in most of the studied species. In general, different population histories occurred along different lineages may result in the observed variation of population mutation rates at microsatellites among the studied Oryza species.
每个基因座每代的突变率(μ)是群体遗传学模型中的一个重要参数。对突变率及其变异的研究对于阐明遗传变异的程度和分布、进一步推断近缘物种间的进化关系以及深入了解基因组的遗传变异具有重要意义。然而,植物物种中微卫星基因座的突变率变异模式仍知之甚少。此外,在相关植物基因组中,对于同一物种内二核苷酸、三核苷酸和四核苷酸重复序列的突变率如何变化,在很大程度上尚未进行研究。
利用复合群体参数θ(θ = 4Nμ,其中N是有效群体大小,μ是每个基因座每代的突变率),首次在亚洲栽培稻O. sativa的四个亚种及其三个近缘物种O. rufipogon、O. glaberrima和O. officinalis中研究了全基因组范围内的突变率变异。基于全基因组微卫星等位基因频率的三个数据集,估计了每个基因座的群体突变率(θ)。我们的结果表明,在每个研究的栽培稻物种或亚种中,微卫星的群体突变率变异可以用伽马分布近似。对于所研究的水稻物种,微卫星的平均群体突变率在二核苷酸、三核苷酸和四核苷酸重复基序中没有显著差异。还估计了水稻每个亚种以及其他相关水稻物种的形状参数。其中,O. sativa的不同亚种具有相似的伽马分布形状参数(α),而其他物种的群体突变率差异很大。
通过对全基因组微卫星数据的分析,在大多数研究物种中,群体突变率可以近似地用伽马分布拟合。一般来说,不同谱系中发生的不同群体历史可能导致在所研究的稻属物种中观察到的微卫星群体突变率变异。