Fig. 1: Somatic mutation burdens in cells with MUTYH mutations. | Nature Communications

Fig. 1: Somatic mutation burdens in cells with MUTYH mutations.

From: Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells

Fig. 1: Somatic mutation burdens in cells with MUTYH mutations.The alternative text for this image may have been generated using AI.

Elevated mutation burdens in normal intestinal cells with MUTYH mutations. a Genome-wide single base substitution (SBS) mutation burden of individual intestinal crypts (n = 144 biologically independent samples) grouped according to patient. Each dot represents an individual intestinal crypt. MUTYH genotypes are displayed separately. Boxplots display median, inter-quartile range (IQR) from 1st to 3rd quartiles and whiskers extend from the last quartile to the last data point that is within 1.5x IQR. b Fold-change in SBS rate in intestinal crypts (n = 144) with MUTYH mutations compared with wild-type controls3 (n = 445). Fold changes are represented by the dot, whiskers represent the 95% confidence interval (Methods). Dots are coloured according to germline genotype: orange; MUTYHY179C+/− G396D+/− (n = 47), MUTYHY179C+/− G396D+/− & OGG1 (n = 38), yellow; MUTYHY179C+/+ (n = 21), green; MUTYHY104*+/+ (n = 31), blue; MUTYHG286E+/+ (n = 7). c Genome-wide single base substitution burden in histologically normal crypts (grey) and adenoma crypts (orange, yellow and green) arranged by patient and germline mutation. Data was available for 5 individuals who had adenoma glands sequenced. Dot represents the median and whiskers indicate the range from lowest to highest mutation burden per patient. Source data are provided as a Source Data file.

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