Deciphering the role of structural variation in human evolution: a functional perspective

IF 3.7 2区生物学 Q2 CELL BIOLOGY

Current Opinion in Genetics & Development Pub Date : 2024-08-08 DOI:10.1016/j.gde.2024.102240

Charikleia Karageorgiou , Omer Gokcumen , Megan Y Dennis

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引用次数: 0

Abstract

Advances in sequencing technologies have enabled the comparison of high-quality genomes of diverse primate species, revealing vast amounts of divergence due to structural variation. Given their large size, structural variants (SVs) can simultaneously alter the function and regulation of multiple genes. Studies estimate that collectively more than 3.5% of the genome is divergent in humans versus other great apes, impacting thousands of genes. Functional genomics and gene-editing tools in various model systems recently emerged as an exciting frontier — investigating the wide-ranging impacts of SVs on molecular, cellular, and systems-level phenotypes. This review examines existing research and identifies future directions to broaden our understanding of the functional roles of SVs on phenotypic innovations and diversity impacting uniquely human features, ranging from cognition to metabolic adaptations.

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解读结构变异在人类进化中的作用：功能视角。

测序技术的进步使得我们能够对不同灵长类物种的高质量基因组进行比较，从而揭示出结构变异所导致的巨大差异。由于结构变异（SVs）体积庞大，它们可以同时改变多个基因的功能和调控。据研究估计，人类与其他类人猿的基因组共有 3.5% 以上存在差异，影响了数千个基因。最近，各种模型系统中的功能基因组学和基因编辑工具成为一个令人兴奋的前沿领域--研究 SV 对分子、细胞和系统级表型的广泛影响。本综述探讨了现有的研究，并确定了未来的研究方向，以拓宽我们对 SVs 在表型创新和多样性方面的功能作用的认识，这些表型创新和多样性影响着从认知到新陈代谢适应等人类特有的特征。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Current Opinion in Genetics & Development 生物-细胞生物学

CiteScore

7.90

自引率

0.00%

发文量

102

审稿时长

1 months

期刊介绍： Current Opinion in Genetics and Development aims to stimulate scientifically grounded, interdisciplinary, multi-scale debate and exchange of ideas. It contains polished, concise and timely reviews and opinions, with particular emphasis on those articles published in the past two years. In addition to describing recent trends, the authors are encouraged to give their subjective opinion of the topics discussed. In Current Opinion in Genetics and Development we help the reader by providing in a systematic manner: 1. The views of experts on current advances in their field in a clear and readable form. 2. Evaluations of the most interesting papers, annotated by experts, from the great wealth of original publications.[...] The subject of Genetics and Development is divided into six themed sections, each of which is reviewed once a year: • Cancer Genomics • Genome Architecture and Expression • Molecular and genetic basis of disease • Developmental mechanisms, patterning and evolution • Cell reprogramming, regeneration and repair • Genetics of Human Origin / Evolutionary genetics (alternate years)