用完整的灵长类基因组和先进的生物技术推进进化医学。

IF 13.6 2区 生物学 Q1 GENETICS & HEREDITY Trends in Genetics Pub Date : 2025-03-01 Epub Date: 2024-12-02 DOI:10.1016/j.tig.2024.11.001
Kaiyue Ma, Xiangyu Yang, Yafei Mao
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引用次数: 0

摘要

进化医学结合了进化生物学和医学,极大地提高了我们对人类特征和疾病易感性的理解。然而,由于表征复杂基因组区域的技术限制,该领域的先前研究往往集中在单核苷酸变异上,阻碍了对其进化起源和临床意义的全面分析。本文综述了端粒到端粒全基因组(T2T)、灵长类动物基因组和其他灵长类动物资源的最新进展,并说明了这些资源如何促进复杂区域的研究。我们专注于几个生物医学相关的区域来研究灵长类动物基因组进化与人类疾病之间的关系。我们还强调了用于评估候选基因座的高通量功能基因组技术的潜力。最后,我们讨论了进化医学背景下灵长类动物研究的未来方向。
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Advancing evolutionary medicine with complete primate genomes and advanced biotechnologies.

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.

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来源期刊
Trends in Genetics
Trends in Genetics 生物-遗传学
CiteScore
20.90
自引率
0.90%
发文量
160
审稿时长
6-12 weeks
期刊介绍: Launched in 1985, Trends in Genetics swiftly established itself as a "must-read" for geneticists, offering concise, accessible articles covering a spectrum of topics from developmental biology to evolution. This reputation endures, making TiG a cherished resource in the genetic research community. While evolving with the field, the journal now embraces new areas like genomics, epigenetics, and computational genetics, alongside its continued coverage of traditional subjects such as transcriptional regulation, population genetics, and chromosome biology. Despite expanding its scope, the core objective of TiG remains steadfast: to furnish researchers and students with high-quality, innovative reviews, commentaries, and discussions, fostering an appreciation for advances in genetic research. Each issue of TiG presents lively and up-to-date Reviews and Opinions, alongside shorter articles like Science & Society and Spotlight pieces. Invited from leading researchers, Reviews objectively chronicle recent developments, Opinions provide a forum for debate and hypothesis, and shorter articles explore the intersection of genetics with science and policy, as well as emerging ideas in the field. All articles undergo rigorous peer-review.
期刊最新文献
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