Genomic structural variation: A complex but important driver of human evolution
Genomic structural variation: A complex but important driver of human evolution
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DOI：
10.1002/ajpa.24713
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发表时间：
2023-02-16
期刊：
影响因子：
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通讯作者：
Dennis，Megan Y.
中科院分区：
文献类型：
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作者：
Soto，Daniela C.;Uribe-Salazar，Jose M.;Dennis，Megan Y.
结构变异体（SV）-包括DNA的重复、缺失和倒位-可能具有显著的基因组和功能影响，但与单核苷酸变异体相比，在技术上难以识别和测定。在新的基因组技术的帮助下，已经清楚地表明，SV在物种之间和物种内部具有显着差异。这种现象在人类和其他灵长类动物中特别有据可查，因为有丰富的序列数据可用。在类人猿中，SV比单核苷酸变体影响更多数量的核苷酸，许多已鉴定的SV表现出种群和物种特异性。在这篇综述中，我们强调了SV在人类进化中的重要性：（1）它们如何塑造巨猿基因组，导致与性状和疾病相关的敏感区域，（2）它们对基因功能和调控的影响，随后在自然选择中发挥了作用，（3）基因复制在人类大脑进化中的作用。我们进一步讨论了如何将SV纳入研究，包括各种基因组方法的优势和局限性。最后，我们提出了未来在整合现有数据和生物标本与不断扩大的SV纲要由生物技术进步推动的考虑。
Structural variants (SVs)—including duplications, deletions, and inversions of DNA—can have significant genomic and functional impacts but are technically difficult to identify and assay compared with single‐nucleotide variants. With the aid of new genomic technologies, it has become clear that SVs account for significant differences across and within species. This phenomenon is particularly well‐documented for humans and other primates due to the wealth of sequence data available. In great apes, SVs affect a larger number of nucleotides than single‐nucleotide variants, with many identified SVs exhibiting population and species specificity. In this review, we highlight the importance of SVs in human evolution by (1) how they have shaped great ape genomes resulting in sensitized regions associated with traits and diseases, (2) their impact on gene functions and regulation, which subsequently has played a role in natural selection, and (3) the role of gene duplications in human brain evolution. We further discuss how to incorporate SVs in research, including the strengths and limitations of various genomic approaches. Finally, we propose future considerations in integrating existing data and biospecimens with the ever‐expanding SV compendium propelled by biotechnology advancements.