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利用完整的灵长类动物基因组和先进生物技术推动进化医学发展。

Advancing evolutionary medicine with complete primate genomes and advanced biotechnologies.

作者信息

Ma Kaiyue, Yang Xiangyu, Mao Yafei

机构信息

Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China.

Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China; Center for Genomic Research, International Institutes of Medicine, Fourth Affiliated Hospital, Zhejiang University, Yiwu, Zhejiang, China.

出版信息

Trends Genet. 2025 Mar;41(3):201-217. doi: 10.1016/j.tig.2024.11.001. Epub 2024 Dec 2.

Abstract

Evolutionary medicine, which integrates evolutionary biology and medicine, significantly enhances our understanding of human traits and disease susceptibility. However, previous studies in this field have often focused on single-nucleotide variants due to technological limitations in characterizing complex genomic regions, hindering the comprehensive analyses of their evolutionary origins and clinical significance. In this review, we summarize recent advancements in complete telomere-to-telomere (T2T), primate genomes and other primate resources, and illustrate how these resources facilitate the research of complex regions. We focus on several biomedically relevant regions to examine the relationship between primate genome evolution and human diseases. We also highlight the potentials of high-throughput functional genomic technologies for assessing candidate loci. Finally, we discuss future directions for primate research within the context of evolutionary medicine.

摘要

进化医学将进化生物学与医学相结合,显著增进了我们对人类特征和疾病易感性的理解。然而,由于在表征复杂基因组区域方面存在技术限制,该领域以前的研究往往集中在单核苷酸变异上,从而阻碍了对其进化起源和临床意义的全面分析。在这篇综述中,我们总结了从端粒到端粒(T2T)的完整灵长类基因组和其他灵长类资源的最新进展,并阐述了这些资源如何促进对复杂区域的研究。我们聚焦于几个与生物医学相关的区域,以研究灵长类基因组进化与人类疾病之间的关系。我们还强调了高通量功能基因组技术在评估候选基因座方面的潜力。最后,我们在进化医学的背景下讨论了灵长类研究的未来方向。

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