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Tri-allelic heteroplasmies, DNA-RNA differences and their polynucleotide tract associations in the mitochondrial genome

机译：三等位基因异质，DNA-RNA差异及其在线粒体基因组中的多核苷酸缔合物

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摘要

The human mitochondrial genome has been extensively studied for its function and disease associations. Utilizing five types of high-throughput sequencing data on ten breast cancer patients (total N = 50), we examined several aspects of the mitochondrial genome that have not been thoroughly studied, including the occurrence of tri-allelic heteroplasmy, the difference between DNA and RNA, and the variants association with polynucleotide tracts. We validated four previously reported and identified 23 additional tri-allelic positions. Furthermore, we detected 18 single nucleotide and seven InDel differences between DNA and RNA. Previous studies have suggested that some of these differences are caused by post transcriptional methylation. The rest can be accredited to RNA editing, polyadenylation or sequencing errors. Most importantly, we found that the tri-allelic positions, and differences between DNA and RNA, are strongly associated with polynucleotide tracts in the mitochondrial genome, suggesting DNA instability or difficulty sequencing around the polynucleotide tract regions.
机译：人体线粒体基因组已被广泛研究其功能和疾病关联。利用10种乳腺癌患者的五种类型的高通量测序数据（总N = 50），我们检查了没有彻底研究的线粒体基因组的几个方面，包括三位等特性异质的发生，DNA和DNA之间的差异RNA和与多核苷酸束的变体关联。我们验证了四个先前报告的并确定了23个额外的三位式职位。此外，我们在DNA和RNA之间检测到18个单核苷酸和七种诱导差异。以前的研究表明，这些差异中的一些是由转录后甲基化引起的。其余的可以对RNA编辑，聚腺苷酸化或测序误差进行认证。最重要的是，我们发现，DNA和RNA之间的三位等位点和差异与线粒体基因组中的多核苷酸椎间，表明DNA不稳定性或难以在多核苷酸道区域上排序。

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  • 来源
    《Genomics》 |2018年第4期|共10页
  • 作者

    Zhao Shilin; Samuels David C.; Zhao Ying-yong; Guo Yan;

  • 作者单位

    Vanderbilt Univ Med Ctr Dept Biostat Nashville TN 37232 USA;

    Vanderbilt Univ Dept Mol Physiol &

    Biophys Med Sch Vanderbilt Genet Inst Nashville TN 37232 USA;

    Northwest Univ Minist Educ Sch Life Sci Key Lab Resource Biol &

    Biotechnol Western China Xian;

    Vanderbilt Univ Med Ctr Dept Biomed Informat Nashville TN 37232 USA;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 医学遗传学;
  • 关键词

    SNP; Heteroplasmy; Polytract;

    机译：SNP;异质;助剂;

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