DNA Damage: Tables
Table 1: Genomic instability associated with diseases and pathologies
| Disease | Clinical Presentation | Mutated DDR Genes and Their Corresponding Proteins |
| Ataxia-oculomotor apraxia 1 | Cerebellar atrophy, ataxia, sensorimotor axonal neuropathy | APTX (aprataxin) |
| Ataxia telangiectasia | Neurodegeneration, immunodeficiency, premature aging, radiation sensitivity, cancer | ATM (ataxia telangiectasia mutated) |
| Ataxia-telangiectasia-like disorder | Cerebellar degeneration, radiation sensitivity | MRE11A (double-strand break repair protein Mre11A), ATM |
| Baller-Gerold syndrome | Premature fusion of the skull bones and malformations of facial, forearm, and hand bones | RECQL4 (RecQ protein-like 4) |
| Bloom syndrome | Immunodeficiency, premature ageing, cancer | BLM (Bloom syndrome protein) |
| Cancer | Uncontrolled cell proliferation, metastasis | CHEK2 (serine/threonine-protein kinase Chk2 isoform), BRCA1 (breast cancer type 1 susceptibility protein), BRCA2 (breast cancer type 2 susceptibility protein), RAD51 (DNA repair protein RAD51), TP53 (cellular tumor antigen p53 isoform), MLH3 (DNA mismatch repair protein Mlh3), MLH1, MSH2, MSH6, MUTYH (A/G-specific adenine DNA glycosylase), PMS1, PMS2, ALKBH3 (alpha-ketoglutarate-dependent dioxygenase alkB), etc. |
| Cellular ageing | Declining ability to respond to mitotic signals and increased homeostatic imbalances | Several proteins involved in DNA repair |
| Cockayne‘s syndrome | Dwarfism, mental retardation, UV light sensitivity | CSA (Cockayne syndrome WD repeat protein CSA), CSB |
| Fanconi anemia | Congenital abnormalities, bone-marrow failure, cancer | FANCM (Fanconi anemia group M protein), FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL |
| LIG4 syndrome | Immunodeficiency and developmental and growth delay | LIG4 (DNA ligase 4) |
| Nijmegen breakage syndrome | Microcephaly and mental retardation, immunodeficiency, radiation sensitivity, cancer | NBN (nibrin) |
| Mitochondrial chronic progressive external ophthalmoplegia | Weakness of the external eye muscles and exercise intolerance, cataracts, hearing loss, hypogonadism | POLG1 (mitochondrial DNA polymerase gamma, catalytic subunit) |
| Rothmund-Thompson syndrome | Immunodeficiency, premature ageing, cancer | RECQL4 |
| Seckel syndrome | Growth retardation, microcephaly with mental retardation, ‘bird-headed’ facial appearance | ATR (ATM and Rad3 related) |
| Severe combined immunodeficiency with microcephaly | Microcephaly, growth retardation, sensitivity to ionizing radiation | NHEJ1 (Non-homologous end joining factor 1) |
| Spinocerebellar ataxia | Cerebellar ataxia, axonal neuropathy, muscular atrophy | TDP1 (Tyrosyl-DNA phosphodiesterase 1) |
| Trichothiodystrophy | Hair abnormality, mental, and growth retardation | XPB (Xeroderma pigmentosum group B-complementing protein), XPD |
| Werner’s syndrome | Immunodeficiency, cancer | WRN (Werner syndrome ATP-dependent helicase) |
| Xeroderma pigmentosa | UV light sensitivity, skin ageing, skin cancer | XPA (Xeroderma pigmentosum group A-complementing protein), POLH (DNA polymerase eta), DDB1/2 (DNA damage binding protein 1 and 2); ERCC3 (excision-repair cross-complementing 2), ERCC3, ERCC4, ERCC5 encoding XPD, XPB, XPF, and XPG, respectively |
Table was reproduced, with modifications, from Georgoulis et al. (2017) 109. License at https://creativecommons.org/licenses/by/4.0/
