生物学与疾病中的躯体Mosaiism。

IF 15.7 1区医学 Q1 PHYSIOLOGY

Annual review of physiology Pub Date : 2022-02-10 Epub Date: 2021-10-12 DOI:10.1146/annurev-physiol-061121-040048

Hayato Ogawa, Keita Horitani, Yasuhiro Izumiya, Soichi Sano

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引用次数: 4

摘要

与早期的观点相反，由于体细胞突变，个体中的每个细胞在基因上都是不同的。因此，组织成为具有不同基因组的细胞的混合物，这种现象被称为体细胞镶嵌。基因组测序技术的最新进展揭示了突变的可能原因，以及它们如何塑造组织独特的突变景观。此外，结合临床信息对测序数据的分析揭示了体细胞嵌合体对疾病过程的影响。在这篇综述中，我们讨论了各种组织中的体细胞嵌合体及其对人类疾病的临床意义。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Somatic Mosaicism in Biology and Disease.

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Somatic Mosaicism in Biology and Disease.

Contrary to earlier beliefs, every cell in the individual is genetically different due to somatic mutations. Consequently, tissues become a mixture of cells with distinct genomes, a phenomenon termed somatic mosaicism. Recent advances in genome sequencing technology have unveiled possible causes of mutations and how they shape the unique mutational landscape of the tissues. Moreover, the analysis of sequencing data in combination with clinical information has revealed the impacts of somatic mosaicism on disease processes. In this review, we discuss somatic mosaicism in various tissues and its clinical implications for human disease.

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来源期刊

Annual review of physiology 医学-生理学

CiteScore

35.60

自引率

0.00%

发文量

期刊介绍： Since 1939, the Annual Review of Physiology has been highlighting significant developments in animal physiology. The journal covers diverse areas, including cardiovascular physiology, cell physiology, ecological, evolutionary, and comparative physiology, endocrinology, gastrointestinal physiology, neurophysiology, renal and electrolyte physiology, respiratory physiology, and special topics.