Fig. 4
From: Pathogenic variants in human DNA damage repair genes mostly arose in recent human history
Comparison of DDR PV abundance between ancient humans and modern humans. The comparison was made between the 1781 DDR PVs identified in global modern humans [39] and the 1266 DDR PVs identified in ancient humans in this study. The rate of PVs in each DDR gene in modern or ancient humans was calculated as the number of PVs in each gene / total number of PVs in all DDR genes. Each rectangle in the lower part refers to the PV-containing DDR genes in the affected DDR pathway. It shows that DDR PVs between ancient and modern humans shared similar prevalent distribution, except the PVs of TP53, MLH1 and MSH2 at higher abundance in ancient humans than in modern humans