Fig. 1: Somatic mutations, causes and patterns.
a, Schematic comparison between inherited variants, an early somatic mutation and a late somatic mutation. b, Overview of causes and types of somatic mutations. EN, endonuclease; ME, mobile element; ORF, open reading frame; RT, reverse transcriptase; ssDNA, single-stranded DNA. c, Overview of the reported mutation rates of somatic SNV across developmental stages and tissues. Data of first cell divisions6,7,59 and later cell divisions6,7,59 are SNVs per cell per division. Data from fetal development of the early central nervous system (CNS)9 and placenta62 are SNVs per cell per day. Adult data are SNVs per year and estimated for seminiferous tubules48, haematopoietic stem cells26,52,144, B lymphocytes52, neurons63,145, T lymphocytes52, bronchial epithelium53, gastric epithelium146, endometrial epithelium79, hepatocytes19, small bowel epithelium19,115, colorectal epithelium19,24,29 and cardiomyocytes49. ZGA, zygotic genome activation.
