Somatic mutations, genome mosaicism, cancer and aging.
Somatic mutations, genome mosaicism, cancer and aging.
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DOI：
10.1016/j.gde.2014.04.002
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发表时间：
2014-06
影响因子：
4
通讯作者：
Vijg J
中科院分区：
文献类型：
--
作者：
Vijg J
基因组本质上是不稳定的，这是由于需要在种系中的DNA序列变异来通过自然选择促进进化。在体细胞组织中，突变在发育和衰老过程中积累，产生基因组嵌合体。除了癌症之外，关于体细胞突变负荷增加在晚年疾病和衰老中可能的因果作用的信息很少。由于体细胞突变的个体丰度低，因此在正常组织中表征体细胞突变及其功能后果仍然是一个艰巨的挑战。在这里，我将简要回顾一下我们目前对动物和人类体细胞突变与衰老的关系的认识，它们是如何产生并导致基因组嵌合的，研究体细胞突变的技术以及它们如何可能导致非克隆疾病。
Genomes are inherently unstable due to the need for DNA sequence variation in the germ line to fuel evolution through natural selection. In somatic tissues mutations accumulate during development and aging, generating genome mosaics. There is little information about the possible causal role of increased somatic mutation loads in late-life disease and aging, with the exception of cancer. Characterizing somatic mutations and their functional consequences in normal tissues remains a formidable challenge due to their low, individual abundance. Here, I will briefly review our current knowledge of somatic mutations in animals and humans in relation to aging, how they arise and lead to genome mosaicism, the technology to study somatic mutations and how they possibly could cause non-clonal disease.