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An Exon-Based Comparative Variant Analysis Pipeline to Study the Scale and Role of Frameshift and Nonsense Mutation in the Human-Chimpanzee Divergence

机译：基于外显子的比较变异分析管道，研究移码和无义突变在人-黑猩猩发散中的规模和作用

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Chimpanzees and humans are closely related but differ in many deadly human diseases and other characteristics in physiology, anatomy, and pathology. In spite of decades of extensive research, crucial questions about the molecular mechanisms behind the differences are yet to be understood. Here I report ExonVar, a novel computational pipeline for Exon-based human-chimpanzee comparative Variant analysis. The objective is to comparatively analyze mutations specifically those that caused the frameshift and nonsense mutations and to assess their scale and potential impacts on human-chimpanzee divergence. Genomewide analysis of human and chimpanzee exons with ExonVar identified a number of species-specific, exon-disrupting mutations in chimpanzees but much fewer in humans. Many were found on genes involved in important biological processes such as T cell lineage development, the pathogenesis of inflammatory diseases, and antigen induced cell death. A “less-is-more” model was previously established to illustrate the role of the gene inactivation and disruptions during human evolution. Here this analysis suggested a different model where the chimpanzee-specific exon-disrupting mutations may act as additional evolutionary force that drove the human-chimpanzee divergence. Finally, the analysis revealed a number of sequencing errors in the chimpanzee and human genome sequences and further illustrated that they could be corrected without resequencing.
机译：黑猩猩与人类有着密切的联系，但是在许多致命的人类疾病以及生理，解剖学和病理学的其他特征上却有所不同。尽管进行了数十年的广泛研究，但关于差异背后的分子机制的关键问题尚待理解。在这里，我报告ExonVar，这是一种用于基于Exon的人-黑猩猩比较变体分析的新颖计算管道。目的是比较分析突变，特别是引起移码和无意义突变的突变，并评估其规模以及对人黑猩猩发散的潜在影响。用ExonVar对人和黑猩猩外显子进行全基因组分析，发现黑猩猩中有许多种特定于物种的，破坏外显子的突变，但在人类中却少得多。在涉及重要生物过程的基因上发现了许多，例如T细胞谱系发育，炎性疾病的发病机理以及抗原诱导的细胞死亡。先前已经建立了“少即是”模型来说明基因失活和破坏在人类进化过程中的作用。在这里，这项分析提出了一个不同的模型，其中黑猩猩特异的外显子破坏突变可能充当推动人类黑猩猩发散的额外进化力。最后，分析揭示了黑猩猩和人类基因组序列中的许多测序错误，并进一步说明了无需重新测序就可以纠正它们。

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    Yu GongXin;

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  • 年度 2009
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