Table 3 DDR PVs identified in ancient humans. Summary
From: Pathogenic variants in human DNA damage repair genes mostly arose in recent human history
DDR pathways | DDR genes | Ancient humans | Modern humansb | ||
|---|---|---|---|---|---|
Gene with PVs (%) | No. PVs | Genes with PVs (%) | No. PVs | ||
Fanconi anemia (FA) | 49 | 27 (55) | 615 | 30 (61) | 926 |
Homologous Recombination (HR) | 37 | 21 (57) | 636 | 21 (57) | 916 |
Mismatch Repair (MMR) | 22 | 8 (36) | 225 | 8 (36) | 188 |
Nucleotide Excision Repair (NER) | 42 | 13 (31) | 95 | 13 (31) | 163 |
Nonhomologous end joining (NHEJ) | 13 | 6 (46) | 64 | 7 (54) | 129 |
DNA damage response (DDR) | 15 | 3 (20) | 82 | 5 (33) | 86 |
Base Excision Repair (BER) | 32 | 7 (22) | 46 | 7 (22) | 72 |
DNA replication (DR) | 34 | 12 (35) | 36 | 11 (32) | 36 |
Totala | 169 | 73 (43) | 1266 | 81 (48) | 1781 |