Llopart A, Aguadé M
Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, 08071 Barcelona, Spain.
Genetics. 2000 Jul;155(3):1245-52. doi: 10.1093/genetics/155.3.1245.
Nucleotide variation in an 8.1-kb fragment encompassing the RpII215 gene, which encodes the largest subunit of the RNA polymerase II complex, is analyzed in a sample of 11 chromosomes from a natural population of Drosophila subobscura. No amino acid polymorphism was detected among the 157 segregating sites. The observed numbers of preferred and unpreferred derived synonymous mutations can be explained by neutral mutational processes. In contrast, preferred mutations segregate at significantly higher frequency than unpreferred mutations, suggesting the action of natural selection. The polymorphism to divergence ratio is different for preferred and unpreferred changes, in agreement with their beneficial and deleterious effects on fitness, respectively. Preferred and unpreferred codons are nonrandomly distributed in the RpII215 gene, leading to a heterogeneous distribution of polymorphic to fixed synonymous differences across this coding region. This intragenic variation of the polymorphism/divergence ratio cannot be explained by different patterns of gene expression, mutation, or recombination rates, and therefore it indicates that selection coefficients for synonymous mutations can vary extensively across a coding region. The application of nucleotide composition stationarity tests in coding and flanking noncoding regions, assumed to behave neutrally, allows the detection of the action of natural selection when stationarity holds in the noncoding region.
在来自果蝇自然种群的11条染色体样本中,分析了包含RpII215基因的8.1kb片段中的核苷酸变异,该基因编码RNA聚合酶II复合物的最大亚基。在157个分离位点中未检测到氨基酸多态性。观察到的优先和非优先衍生同义突变的数量可以用中性突变过程来解释。相比之下,优先突变的分离频率明显高于非优先突变,这表明存在自然选择的作用。优先和非优先变化的多态性与分歧率不同,分别与其对适应性的有益和有害影响一致。优先和非优先密码子在RpII215基因中呈非随机分布,导致该编码区域内多态性与固定同义差异的分布不均一。这种多态性/分歧率的基因内变异不能用不同的基因表达、突变或重组率模式来解释,因此表明同义突变的选择系数在整个编码区域可能有很大差异。在假定为中性的编码和侧翼非编码区域应用核苷酸组成平稳性测试,当非编码区域保持平稳时,可以检测到自然选择的作用。