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Annual Review of Physiology

Volume 84, 2022

Somatic Mosaicism in Biology and Disease

Abstract

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.

Keyword(s): aging, cardiovascular disease, clonal hematopoiesis, driver mutations, loss of Y chromosome, somatic mosaicism
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/content/journals/10.1146/annurev-physiol-061121-040048
2022-02-10
2024-05-02
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/content/journals/10.1146/annurev-physiol-061121-040048
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Somatic Mosaicism in Biology and Disease
Annual Review of Physiology 84, 113 (2022); https://doi.org/10.1146/annurev-physiol-061121-040048
/content/journals/10.1146/annurev-physiol-061121-040048
/content/journals/10.1146/annurev-physiol-061121-040048
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  • Article Type: Review Article

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