[A Comparative Analysis of Mitochondrial Genome Mutation Spectra in Human Populations].

B A Malyarchuk
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Abstract

Nucleotide sequence variability of whole mitochondrial genomes (mtDNA) was analyzed and mutation spectra were reconstructed (by L-chain of mtDNA) in four regional groups of indigenous populations representing Northeastern and Southern Siberia, Western Asia, and the Americas. The pyrimidine transitions were found to be predominant in all groups; of these, the T→C substitutions were most frequent. The second most common in all regional groups (except Northeastern Siberia) are A→G substitutions. Of the transversions, in all the populations studied the C→A substitutions dominate. Between-regional differences in the distribution of nucleotide substitutions in mtDNA mutation spectra were not detected. However, a significant (4-fold) decrease in the number of mutations in mitochondrial gene pools was detected in the indigenous population of Northeastern Siberia compared to other regions. This may be due to the increased effect of negative selection on mtDNA in the Far North environment, which prevents the accumulation of new mutations, and genetic drift, which is most pronounced in isolated and small populations of Northeastern Siberia. Because of the lack of between-regional differences in mtDNA mutation spectra, the results we obtained do not allow us to confirm the hypothesis that the T→C substitution frequency is a molecular marker of the level of oxidative stress in mitochondria (at least for germline mutations).

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[人类线粒体基因组突变谱的比较分析]。
分析了代表西伯利亚东北部和南部、西亚和美洲的四个土著群体的线粒体全基因组(mtDNA)的核苷酸序列变异性,并重建了突变谱(通过mtDNA的L-链)。发现嘧啶跃迁在所有基团中占主导地位;其中,T→C取代最为常见。除西伯利亚东北部外,所有地区组中第二常见的是A→G替换。在所有研究的人群中,C→换人占主导地位。mtDNA突变谱中核苷酸取代分布的区域间差异未被检测到。然而,与其他地区相比,西伯利亚东北部的土著人群中线粒体基因库的突变数量显著减少(4倍)。这可能是由于在极北环境中,负选择对mtDNA的影响增加,这阻止了新突变的积累,以及遗传漂移,这在西伯利亚东北部的孤立和小种群中最为明显。由于mtDNA突变谱缺乏区域间差异,我们获得的结果不允许我们证实T→C取代频率是线粒体氧化应激水平的分子标记(至少对于种系突变而言)。
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Molekulyarnaya Biologiya
Molekulyarnaya Biologiya Medicine-Medicine (all)
CiteScore
0.70
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0.00%
发文量
131
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