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对百岁老人全基因组体细胞突变谱的深入研究确定了人类长寿的关键基因组区域。

Scrutiny of genome-wide somatic mutation profiles in centenarians identifies the key genomic regions for human longevity.

机构信息

State Key Laboratory of Genetic Resources and Evolution, Key Laboratory of Healthy Aging Research of Yunnan Province, Kunming Key Laboratory of Healthy Aging Study, KIZ/CUHK Joint Laboratory of Bioresources and Molecular Research in Common Diseases, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China.

Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, China.

出版信息

Aging Cell. 2024 Jan;23(1):e13916. doi: 10.1111/acel.13916. Epub 2023 Jul 3.

Abstract

Somatic mutations accumulate with age and are associated closely with human health, their characterization in longevity cohorts remains largely unknown. Here, by analyzing whole genome somatic mutation profiles in 73 centenarians and 51 younger controls in China, we found that centenarian genomes are characterized by a markedly skewed distribution of somatic mutations, with many genomic regions being specifically conserved but displaying a high function potential. This, together with the observed more efficient DNA repair ability in the long-lived individuals, supports the existence of key genomic regions for human survival during aging, with their integrity being of essential to human longevity.

摘要

体细胞突变随年龄积累,与人类健康密切相关,但其在长寿人群中的特征在很大程度上尚不清楚。在这里,通过分析中国 73 名百岁老人和 51 名年轻对照者的全基因组体细胞突变谱,我们发现,百岁老人的基因组以体细胞突变的明显偏态分布为特征,许多基因组区域被特异性地保守,但表现出高的功能潜能。这一点,加上在长寿个体中观察到的更有效的 DNA 修复能力,支持了在衰老过程中人类生存的关键基因组区域的存在,其完整性对于人类的长寿至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fada/10776117/a0127de89325/ACEL-23-e13916-g002.jpg

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