Somatic Mosaicism and Disease

Frank SA

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Somatic Mosaicism and Disease

机译：体细胞镶嵌症和疾病

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The large number of cell divisions required to make a human body inevitably leads to the accumulation of somatic mutations. Such mutations cause individuals to be somatic mosaics. Recent advances in genomic technology now allow measurement of somatic diversity. Initial studies confirmed the expected high levels of somatic mutations within individuals. Going forward, the big questions concern the degree to which those somatic mutations influence disease. Theory predicts that the frequency of mutant cells should vary greatly between individuals. Such somatic mutational variability between individuals could explain much of the diversity in the risk of disease. But how variable is mosaicism between individuals in reality? What is the relation between the fraction of cells carrying a predisposing mutation and the risk of disease? What kinds of heritable somatic change lead to disease besides classical DNA mutations? What molecular processes connect a predisposing somatic change to disease? We know that predisposing somatic mutations strongly influence the onset of cancer. Likewise, neurodegenerative diseases may often begin from somatically mutated cells. If so, both neurodegeneration and cancer may be diseases of later life for which much of the risk may be set by early life somatic mutations

机译：制造人体所需的大量细胞分裂不可避免地导致体细胞突变的积累。这种突变导致个体成为体细胞镶嵌体。基因组技术的最新进展现在允许测量体细胞多样性。初步研究证实了个体中预期的高水平体细胞突变。展望未来，主要问题涉及那些体细胞突变影响疾病的程度。理论预测突变细胞的频率在个体之间应该有很大的不同。个体之间的这种体细胞突变变异性可以解释疾病风险的许多多样性。但是，现实中个人之间的镶嵌关系有多大变化？携带易感突变的细胞比例与患病风险之间有什么关系？除了经典的DNA突变，还有哪些可遗传的体细胞变化导致疾病？哪些分子过程将易患的体细胞变化与疾病联系起来？我们知道，易患的体细胞突变会强烈影响癌症的发作。同样，神经退行性疾病通常可能始于体细胞突变的细胞。如果是这样，神经退行性疾病和癌症都可能是晚年生活的疾病，其大部分风险可能是由早年生活的体细胞突变引起的

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《Current Biology: CB》 |2014年第12期|共5页
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Frank SA;
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1. A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndromeeonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases [J] . Juan I. Aróstegui, Ma Dolores Lopez Saldaña, Mariona Pascal, Arthritis & Rheumatism . 2010,第4期

机译：体细胞NLRP3突变是慢性婴儿神经系统疾病，皮肤，关节综合征/新生儿多系统炎症性疾病的零星病例的原因：低水平镶嵌作用作为孟德尔遗传病基础的病理生理机制的作用的新证据
2. A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndromeeonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases. [J] . Arostegui JI, Lopez Saldana MD, Pascal M, Arthritis and Rheumatism . 2010,第4期

机译：体细胞NLRP3突变是慢性婴儿神经病，皮肤，关节综合征/新生儿多系统炎症性疾病的零星病例的原因：低水平镶嵌作用作为孟德尔遗传病基础的病理生理机制的作用的新证据。
3. Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease [J] . Eva Gon?alves Serra, Tobias Schwerd, Loukas Moutsianas, Nature Communications . 2020,第1期

机译：体细胞镶嵌和常见的遗传变异有助于非常早期发病炎症肠病的风险
4. PAS-MUT with Somatic Mutations in Cancer and Classified Diseases for Clinical-Genomics Research: PAS-MUT Somatic Mutations [C] . Saman Zeeshan, Zeeshan Ahmed IEEE International Conference on Bioinformatics and Biomedicine . 2019

机译：具有癌症和分类疾病中的体细胞突变的PAS-MUT用于临床基因组学研究：PAS-MUT和体细胞突变
5. Properties of ON- and OFF-center beta cell somatic and dendritic mosaics in cat retina. [D] . Zhan, Xue (James). 1996

机译：猫视网膜中ON和OFF中心β细胞的体细胞和树突状镶嵌的特性。
6. Illegitimate and Repeated Genomic Integration of Cell-Free Chromatin in the Aetiology of Somatic Mosaicism Ageing Chronic Diseases and Cancer [O] . Gorantla V. Raghuram, Shahid Chaudhary, Shweta Johari, 2019

机译：无细胞染色质的非法和重复基因组整合在体细胞镶嵌老龄化慢性病和癌症的病因学中
7. Illegitimate and Repeated Genomic Integration of Cell-Free Chromatin in the Aetiology of Somatic Mosaicism, Ageing, Chronic Diseases and Cancer [O] . Gorantla V. Raghuram, Shahid Chaudhary, Shweta Johari, 2019

机译：无细胞染色质的非法和反复基因组整合在体细胞果皮，衰老，慢性疾病和癌症中的病毒中

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