英国威康桑格研究所Raheleh Rahbari和Michael R. Stratton研究组共同绘制人类体细胞和生殖细胞的突变景观。相关论文于2021年8月25日发表在《自然》杂志上。
他们使用来自同一个体的多个样本比较了体细胞和生殖系的 29 种细胞类型突变情况。两种普遍存在的突变特征，SBS1 和 SBS5/40，占大多数细胞类型中获得性突变的大部分，但它们的绝对和相对贡献差异很大。SBS18 可能反映氧化损伤 ，以及归因于外源性和内源性暴露的几个其他特征导致细胞类型亚群的突变。
精原细胞中的突变率最低，精原细胞是产生精子的干细胞，据认为人类群体中的大多数遗传变异都源于该干细胞。这是由于普遍存在的突变过程发生率低，部分原因可能是基础精原细胞的细胞分裂率低。这些结果突出了生殖系和体细胞维持的异同。
据介绍，在一个人的一生中，正常的人体细胞会积累突变。
附：英文原文
Title: The mutational landscape of human somatic and germline cells
Author: Moore, Luiza, Cagan, Alex, Coorens, Tim H. H., Neville, Matthew D. C., Sanghvi, Rashesh, Sanders, Mathijs A., Oliver, Thomas R. W., Leongamornlert, Daniel, Ellis, Peter, Noorani, Ayesha, Mitchell, Thomas J., Butler, Timothy M., Hooks, Yvette, Warren, Anne Y., Jorgensen, Mette, Dawson, Kevin J., Menzies, Andrew, ONeill, Laura, Latimer, Calli, Teng, Mabel, van Boxtel, Ruben, Iacobuzio-Donahue, Christine A., Martincorena, Inigo, Heer, Rakesh, Campbell, Peter J., Fitzgerald, Rebecca C., Stratton, Michael R., Rahbari, Raheleh
Issue&Volume: 2021-08-25
Abstract: Over the course of an individual’s lifetime, normal human cells accumulate mutations1. Here we compare the mutational landscape in 29 cell types from the soma and germline using multiple samples from the same individuals. Two ubiquitous mutational signatures, SBS1 and SBS5/40, accounted for the majority of acquired mutations in most cell types, but their absolute and relative contributions varied substantially. SBS18, which potentially reflects oxidative damage2, and several additional signatures attributed to exogenous and endogenous exposures contributed mutations to subsets of cell types. The rate of mutation was lowest in spermatogonia, the stem cells from which sperm are generated and from which most genetic variation in the human population is thought to originate. This was due to low rates of ubiquitous mutational processes and may be partially attributable to a low rate of cell division in basal spermatogonia. These results highlight similarities and differences in the maintenance of the germline and soma.
DOI: 10.1038/s41586-021-03822-7
Source: https://www.nature.com/articles/s41586-021-03822-7
Nature：《自然》，创刊于1869年。隶属于施普林格·自然出版集团，最新IF：69.504
官方网址：http://www.nature.com/
投稿链接：http://www.nature.com/authors/submit_manuscript.html
本期文章：《自然》：Online/在线发表
