Somatic Mosaicism in Biology and Disease
Hayato Ogawa, Keita Horitani, Yasuhiro Izumiya, Soichi Sano
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.
Topics & Concepts
Somatic cellBiologyGenomeGeneticsDiseaseGermline mosaicismDNA sequencingHuman genomeComputational biologyGeneMedicinePathologyCancer Genomics and DiagnosticsGenetic factors in colorectal cancerGenomics and Rare Diseases