Institut für Populationsgenetik, Vetmeduni Vienna, Wien, Austria.
Vienna Graduate School of Population Genetics, Vetmeduni Vienna, Wien, Austria.
Genome Biol Evol. 2018 Jan 1;10(1):269-275. doi: 10.1093/gbe/evx200.
In many organisms, local deviations from Chargaff's second parity rule are observed around replication and transcription start sites and within intron sequences. Here, we use expression data as well as a whole-genome data set of nearly 200 haplotypes to investigate such compositional skews in Drosophila melanogaster genes. We find a positive correlation between compositional skew and gene expression, comparable in strength to similar correlations between expression levels and genome-wide sequence features. This correlation is relatively stronger for germline, compared with somatic expression, consistent with the process of transcription-associated mutation bias. We also inferred mutation rates from alleles segregating at low frequencies in short introns, and show that, whereas the overall GC content of short introns does not conform to the equilibrium expectation, the level of the observed deviation from the second parity rule is generally consistent with the inferred rates.
在许多生物体中,在复制和转录起始位点以及内含子序列周围观察到局部偏离Chargaff 的第二碱基配对规则。在这里,我们使用表达数据以及近 200 个单倍型的全基因组数据集来研究果蝇基因中的这种组成性偏斜。我们发现组成性偏斜与基因表达之间存在正相关关系,其强度与表达水平与全基因组序列特征之间的类似相关性相当。与体细胞表达相比,这种相关性在生殖细胞中更强,与转录相关的突变偏倚过程一致。我们还从短内含子中低频分离的等位基因推断了突变率,并表明尽管短内含子的整体 GC 含量不符合平衡预期,但观察到的偏离第二碱基配对规则的程度通常与推断的速率一致。