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Mutational spectrum in the recent human genome inferred by single nucleotide polymorphisms.

机译：单核苷酸多态性推断最近人类基因组中的突变谱。

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So far, there is no genome-wide estimation of the mutational spectrum in humans. In this study, we systematically examined the directionality of the point mutations and maintenance of GC content in the human genome using approximately 1.8 million high-quality human single nucleotide polymorphisms and their ancestral sequences in chimpanzees. The frequency of C-->T (G-->A) changes was the highest among all mutation types and the frequency of each type of transition was approximately fourfold that of each type of transversion. In intergenic regions, when the GC content increased, the frequency of changes from G or C increased. In exons, the frequency of G:C-->A:T was the highest among the genomic categories and contributed mainly by the frequent mutations at the CpG sites. In contrast, mutations at the CpG sites, or CpG-->TpG/CpA mutations, occurred less frequently in the CpG islands relative to intergenic regions with similar GC content. Our results suggest that the GC content is overall not in equilibrium in the human genome, with a trend toward shifting the human genome to be AT rich and shifting the GC content of a region to approach the genome average. Our results, which differ from previous estimates based on limited loci or on the rodent lineage, provide the first representative and reliable mutational spectrum in the recent human genome and categorized genomic regions.
机译：迄今为止，尚无人类突变基因组的全基因组估计。在这项研究中，我们系统地使用了约180万个高质量的人类单核苷酸多态性及其在黑猩猩中的祖先序列，研究了人类基因组中点突变的方向性和GC含量的维持。在所有突变类型中，C-> T（G-> A）变化的频率最高，每种过渡类型的频率大约是每种转化类型的四倍。在基因间区域中，当GC含量增加时，G或C变化的频率增加。在外显子中，G：C-> A：T的频率在基因组类别中最高，并且主要是由CpG位点的频繁突变引起的。相比之下，相对于具有相似GC含量的基因间区域，CpG岛中CpG位点的突变或CpG-> TpG / CpA突变的发生频率较低。我们的结果表明，人类基因组中的GC含量总体上不是平衡的，并且趋向于将人类基因组转变为富含AT的趋势，并且将某个地区的GC含量转变为接近基因组平均值。我们的结果与先前基于有限基因座或啮齿动物谱系的估计不同，在最近的人类基因组和分类的基因组区域中提供了第一个代表性且可靠的突变谱。

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