大规模 mtDNA 测序揭示了序列和功能保守性是同质 mtDNA 变体分布的主要决定因素。
Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution.
机构信息
Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands.
出版信息
Mitochondrion. 2011 Nov;11(6):964-72. doi: 10.1016/j.mito.2011.09.003. Epub 2011 Sep 17.
Abstract
The mitochondrial DNA (mtDNA) is highly variable, containing large numbers of pathogenic mutations and neutral polymorphisms. The spectrum of homoplasmic mtDNA variation was characterized in 730 subjects and compared with known pathogenic sites. The frequency and distribution of variants in protein coding genes were inversely correlated with conservation at the amino acid level. Analysis of tRNA secondary structures indicated a preference of variants for the loops and some acceptor stem positions. This comprehensive overview of mtDNA variants distinguishes between regions and positions which are likely not critical, mainly conserved regions with pathogenic mutations and essential regions containing no mutations at all.
摘要
线粒体 DNA（mtDNA）高度多变，包含大量致病性突变和中性多态性。在 730 名受试者中对同质 mtDNA 变异进行了特征描述，并与已知的致病性位点进行了比较。蛋白质编码基因中的变异频率和分布与氨基酸水平的保守性呈反比。对 tRNA 二级结构的分析表明，变体偏爱环和一些受体茎位置。这种对 mtDNA 变体的全面概述区分了可能不重要的区域和位置，主要是具有致病性突变的保守区域和根本不含突变的必需区域。
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