Pakistan Science Abstracts
Article details & metrics
No Detail Found!!
A Review on DNA Damaging Patterns and Repair Mechanisms
Author(s):
1. Muhammad Bilal: Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences,Lahore,Pakistan
2. Tayyaba Maqbool: Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences,Lahore,Pakistan
3. Muhammad Wasim: Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences,Lahore,Pakistan
4. Wajeeha Tariq: Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences,Lahore,Pakistan
5. Bushra Parveen: Lahore College for Women University,Lahore,Pakistan
Abstract:
Various factors and agents cause mutations and damage to DNA, such as UV radiations, alkylating agents, toxins, aromatic compounds, environmental stress and other ways, including spontaneous base DNA damage. These DNA damages could prove deleterious if left un-repaired, leading to cancer and many other unhealthy conditions. As DNA is the genomic material, repairing the damage is more critically important. However, cells have various mechanisms to cope with the damaged DNA, including DNA polymerase self-correction and proofreading, direct reversal of the chemical changes, readily repairing of double helix, base and nucleotide excision repair and mismatch repairs. This review briefly explains DNA damage and repair mechanisms and the disease states associated with them.
Page(s): 190-201
DOI: DOI not available
Published: Journal: Pakistan Journal of Scientific and Industrial Research Series B: Biological Sciences, Volume: 67, Issue: 2, Year: 2024
Keywords:
Cancer , Damage , mutations , DNA , excision repair , repairing
References:
[1] Abbotts R.,Wilson III,D.M. III .2017 .Coordination of DNA single strand break repair. Free Radical Biology and Medicine, 107 : 228-244.
[2] Alberts B.,Johnson A.,Lewis J.,Raff D.,Roberts M.,Walter K.,P. K.,Norton W.W. .2015 .Molecular Biology of the Cell, 6th edition. , : 1464.
[3] Alhmoud J.F.,Woolley J.F.,Al Moustafa,Malki A.E.,M.I. A.E. .2020 .DNA damage/repair management in cancers. Cancers, 12 : 1050.
[4] Altaf M.,Saksouk N.,Côté J. .2007 .Histone modifications in response to DNA damage. Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 618 : 81-90.
[5] Andrade P.,Martín M.J.,Juárez F.L.,Blanco L. .2009 .Limited terminal transferase in human DNA polymerase m defines the required balance between accuracy and efficiency in NHEJ. Proceedings of the National Academy of Sciences, 106 : 16203-16208.
[6] Bae D.Y.,Atique U.,Yoon J.H.,Lim B.J.,An K.G. .2020 .Ecological risk assessment of urban streams using fish biomarkers of DNA damage and physiological responses. Polish Journal of Environmental Studies, 29 : 1077-1086.
[7] Banas A.K.,Zg obicki,Kowalska E.,Dziga D.,W. D. .2020 .All you need is light. Photorepair of UV-induced pyrimidine dimers. Genes, 11 : 1304.
[8] Barnetson R.A.,Tenesa A.,Farrington S.M.,Nicholl I.D.,Cetnarskyj R.,Porteous R.,Campbell H.,Dunlop M.G. .2006 .Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. The New England Journal of Medicine, 354 : 2751-2763.
[9] Bernstein C.,Prasad A.R.,Nfonsam V.,Bernstein H. .2013 .. DNA Repair and Cancer, 1 : 413-465.
[10] Buck D.,Malivert D.,de Chasseval,Barraud A.,Fondanèche C.,Sanal O.,Plebani A.,Stéphan J.-L.,Hufnagel M.,le Deist F. .2006 .Cernunnos, a novel non-homologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell, 124 : 287-299.
[11] Catalano C.E.,Benkovic S.J. .1989 .Inactivation of DNA polymerase I (Klenow fragment) by adenosine 2', 3'-epoxide 5'-triphosphate: evidence for the formation of a tight-binding inhibitor. Biochemistry, 28 : 4374-4382.
[12] Chakravarti D.,K.A. D.,DePinho D.,R.A. D. .2021 .Telomeres: history, health and hallmarks of aging. Cell, 184 : 306-322.
[13] Chatterjee N.,Walker G.C. .2017 .Mechanisms of DNA damage, repair and mutagenesis. Environmental and Molecular Mutagenesis, 58 : 235-263.
[14] Cheadle J.P.,Sampson J.R. .2007 .MUTYH-associated polyposis from defect in base excision repair to clinical genetic testing. DNA Repair, 6 : 274-279.
[15] Cortez D. .2019 .Replication-coupled DNA repair. Molecular Cell, 74 : 866-876.
[16] Crowley D.J.,Boubriak I.,Berquist B.R.,Clark M.,Richard M.,Sullivan L.,DasSarma S.,McCready S. .2006 .The uvrA, uvrB and uvrC genes are required for repair of ultraviolet light induced DNA photoproducts in Halobacterium sp. NRC-1. Saline Systems, 2 : 1-13.
[17] D'Arcy M.S. .2019 .Cell death: a review of the major forms of apoptosis, necrosis and autophagy. Cell Biology International, 43 : 582-592.
[18] De-Almeida L.C.,Calil F.A.,Machado-Neto J.A.,Costa-Lotufo L.V. .2021 .DNA damaging agents and DNA repair: from carcinogenesis to cancer therapy. Cancer Genetics, 252 : 6-24.
[19] DeVito S.,Woodrick J.,Song L.,Roy R. .2017 .Mutagenic potential of hypoxanthine in live human cells. Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 803 : 9-16.
[20] Dianov G.,Price A.,Lindahl T. .1992 .Generation of single-nucleotide repair patches following excision of uracil residues from DNA. Molecular and Cellular Biology, 12 : 1605-1612.
[21] Diderich K.,Alanazi M.,Hoeijmakers J. .2011 .Premature aging and cancer in nucleotide excision repair-disorders. DNA Repair, 10 : 772-780.
[22] Difilippantonio M.J.,Petersen S.,Chen H.T.,Johnson H.T.,Jasin M.,Kanaar R.,Ried T.,Nussenzweig A. .2002 .Evidence for replicative repair of DNA double-strand breaks leading to oncogenic translocation and gene amplification. Journal of Experimental Medicine, 196 : 469-480.
[23] Duraturo F.,Liccardo R.,Izzo M.,P. M. .2019 .Genetics, diagnosis and treatment of Lynch syndrome: old lessons and current challenges. Oncology Letters, 17 : 3048-3054.
[24] Fagbemi A.F.,Orelli B.,Schärer O.D. .2011 .Regulation of endonuclease activity in human nucleotide excision repair. DNA Repair, 10 : 722-729.
[25] Faghri S.,Tamura D.,Kraemer K.H.,J.J. K.H. .2008 .Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. Journal of Medical Genetics, 45 : 609-621.
[26] Fekairi S.,Scaglione S.,Chahwan C.,Taylor E.R.,Tissier A.,Coulon S.,Dong M.-Q.,Ruse C.,Yates III,Russell J.R.,P. J.R. .2009 .Human SLX4 is a Holliday junction resolvase subunit that binds multiple DNA repair/recombination endonucleases. Cell, 138 : 78-89.
[27] Fernandez-Leiro R.,Conrad J.,Yang J.-C.,Freund S.,Scheres S.H.,Lamers M.H.,Orioli D.,Botta D.,E. D. .2020 .Heterogeneity and overlaps in nucleotide excision repair disorders. Clinical Genetics, 97 : 12-24.
[28] Frosina G.,Fortini P.,Rossi O.,Carrozzino F.,Raspaglio G.,Cox L.S.,Lane D.P.,Abbondandolo A.,Dogliotti E. .1996 .Two pathways for base excision repair in mammalian cells. Journal of Biological Chemistry, 271 : 9573-9578.
[29] Getts R.C.,Stamato T.D. .1994 .Absence of a Ku-like DNA end binding activity in the xrs double-strand DNA repair-deficient mutant. Journal of Biological Chemistry, 269 : 15981-15984.
[30] Heyer ,Ehmsen K.T.,Liu J. .2010 .Regulation of homologous recombination in eukaryotes. Annual Review of Genetics, 44 : 113-139.
[31] Imai K.,Slupphaug G.,Lee W.-I.,Revy P.,Nonoyama S.,Catalan N.,Yel L.,Forveille M.,Kavli B.,Krokan H.E. .2003 .Human uracil-DNA glycosylase deficiency associated with profoundly i m p a i r e d i m m u n o g l o b u l i n c l a s s - s w i t c h recombination. Nature Immunology, 4 : 1023-1028.
[32] Ip S.C.,Rass U.,Blanco M.G.,Flynn H.R.,Skehel J.M.,West S.C. .2008 .Identification of Holliday junction resolvases from humans and yeast. Nature, 456 : 357-361.
[33] Ippoliti P.J.,Jones N.A.,Beuning K.M.,P.J. K.M. .2012 .Multiple strategies for translesion synthesis in bacteria. Cells, 1 : 799-831.
[34] Iyama T.,Wilson III,D.M. III .2013 .DNA repair mechanisms in dividing and non-dividing cells. DNA Repair, 12 : 620-636.
[35] Iyer R.R.,Pluciennik A. .2021 .DNA mismatch repair and its role in Huntington's disease. Journal of Huntington's Disease, 10 : 75-94.
[36] Jacob S.,Praz F.J. .2002 .DNA mismatch repair defects: role in colorectal carcinogenesis. Biochimie, 84 : 27-47.
[37] Janion C.J. .2008 .Inducible SOS response system of DNA repair and mutagenesis in Escherichia coli. International Journal of Biological Sciences, 4 : 338.
[38] Jeppesen D.K.,Bohr V.A.,Stevnsner T. .2011 .DNA repair deficiency in neurodegeneration. , 94 : 166-200.
[39] Jiricny J. .2006 .The multifaceted mismatch-repair system. Nature Reviews Molecular Cell Biology, 7 : 335-346.
[40] Junop M.S.,Yang W.,Funchain P.,Clendenin W.,Miller J.H. .2003 .In vitro and in vivo studies of MutS, MutL and MutH mutants: correlation of mismatch repair and DNA recombination. DNA Repair, 2 : 387-405.
[41] Kang H.I.,Konishi C.,Kuroki T.,Huh N.H. .1995 .Detection of O 6-methylguanine, O 4- methylthymine and O 4-ethylthymine in human liver and peripheral blood leukocyte DNA. Carcinogenesis, 16 : 1277-1280.
[42] Kannouche P.L.,Lehmann A.R. .2004 .Ubiquitination of PCNA and the polymerase switch in human cells. Cell Cycle, 3 : 1009-1011.
[43] Kannouche P.L.,Wing J.,Lehmann A.R. .2004 .Interaction of human DNA polymerase h with monoubiquitinated PCNA: a possible mechanism for the polymerase switch in response to DNA damage. Molecular Cell, 14 : 491-500.
[44] Kawane K.,Motani K.,Nagata S. .2014 .DNA degradation and its defects. Cold Spring Harbor Perspectives in Biology, 6 : a016394.
[45] Kimura S.,Tahira Y.,Ishibashi T.,Mori Y.,Mori T.,Hashimoto J.,Sakaguchi K. .2004 .DNA repair in higher plants; photoreactivation is the major DNA repair pathway in non-proliferating cells while excision repair (nucleotide excision repair and base excision repair) is active in proliferating cells. Nucleic Acids Research, 32 : 2760-2767.
[46] Klungland A.,Lindahl T. .1997 .Second pathway for completion of human DNA base excision-repair: reconstitution with purified proteins and requirement for DNase IV (FEN1). The EMBO Journal, 16 : 3341-3348.
[47] Kneuttinger A.C.,Kashiwazaki G.,Prill S.,Heil K.,Müller M.,Carell T. .2014 .Formation and direct repair of UV-induced dimeric DNA pyrimidine lesions. Photochemistry and Photobiology, 90 : 1-14.
[48] Kong C.M.,Lee X.W.,Wang X. .2013 .Telomere shortening in human diseases. The FEBS Journal, 280 : 3180-3193.
[49] Kraemer K.H.,Lee M.M.,Scotto J. .1987 .Xeroderma pigmentosum: cutaneous, ocular, and neurologic abnormalities in 830 published cases. Archives of Dermatology, 123 : 241-250.
[50] Kraemer K.H.,Patronas N.J.,Schiffmann R.,Brooks B.P.,Tamura D.,J.J. D. .2007 .Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience, 145 : 1388-1396.
[51] Krokan H.E.,Drabløs F.,Slupphaug G. .2002 .Uracil in DNA-occurrence, consequences and repair. Oncogene, 21 : 8935-8948.
[52] Lindahl T. .1993 .Instability and decay of the primary structure of DNA. Nature, 362 : 709-715.
[53] Liu R.,Lang Z. .2020 .The mechanism and function of active DNA demethylation in plants. Journal of Integrative Plant Biology, 62 : 148-159.
[54] Loveless A. .1969 .Possible relevance of O-6 alkylation of deoxyguanosine to the mutagenicity and carcinogenicity of nitrosamines and nitrosamides. Nature, 223 : 206-207.
[55] Ma Y.,Pannicke U.,Schwarz K.,Lieber M.R. .2002 .Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V (D) J recombination. Cell, 108 : 781-794.
[56] Martinez-Delgado B.,Yanowsky K.,Inglada-Perez L.,Domingo S.,Urioste M.,Osorio A.,Benitez J. .2011 .Genetic anticipation is associated with telomere shortening in hereditary breast cancer. PLoS Genetics, 7 : e1002182.
[57] Maslowska K.H.,Makiela-Dzbenska K.,Fijalkowska I.J. .2019 .The SOS system: a complex and tightly regulated response to DNA damage. Environmental and Molecular Mutagenesis, 60 : 368-384.
[58] Masutani C.,Kusumoto R.,Yamada A.,Dohmae N.,Yokoi M.,Yuasa M.,Araki M.,Iwai S.,Takio K.,Hanaoka F. .1999 .The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase h. Nature, 399 : 700-704.
[59] McIlwraith M.J.,Vaisman A.,Liu Y.,Fanning E.,Woodgate R.,West S.C. .2005 .Human DNA polymerase h promotes DNA synthesis from strand i n v a s i o n i n t e r m e d i a t e s o f h o m o l o g o u s recombination. Molecular Cell, 20 : 783-792.
[60] McIlwraith M.J.,Van Dyck E.,Stasiak A.Z.,Stasiak A.,West S.C.J. .2000 .Reconstitution of the strand invasion step of double-strand break repair using human Rad51 Rad52 and RPA proteins. Journal of Molecular Biology, 304 : 151-164.
[61] Modrich P.J. .2006 .Mechanisms in eukaryotic mismatch repair. Journal of Biological Chemistry, 281 : 30305-30309.
[62] Moon ,Atique U.,An K.G. .2020 .Ecological risk assessments and eco-toxicity analyses using chemical, biological, physiological responses, DNA damages and gene-level biomarkers in Zebrafish (Danio rerio) in an urban stream. Chemosphere, 239 : 124754.
[63] Moreira C.,Barbot C.,Tachi N.,Kozuka N.,Uchida E.,Gibson T.,Mendonça P.,Costa M.,Barros J.,Yanagisawa T. .2001 .The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Znfinger protein aprataxin. Nature Genetics, 29 : 189-193.
[64] Nayak S.,Calvo J.A.,Cantor S.B. .2021 .Targeting translesion synthesis (TLS) to expose replication gaps, a unique cancer vulnerability. Expert Opinion on Therapeutic Targets, 25 : 27-36.
[65] Nilsson R.,N.A. R. .2020 .Nuclear DNA damages generated by reactive oxygen molecules (ROS) under oxidative stress and their relevance to human cancers, including ionizing radiation-induced neoplasia part I: physical, chemical and molecular biology aspects. Radiation Medicine and Protection, 1 : 140-152.
[66] Norbury C.J.,Hickson I.D. .2001 .Cellular responses to DNA damage. Annual Review of Pharmacology and Toxicology, 41 : 367-401.
[67] O'Driscoll M.,Gennery A.,Seidel J.,Concannon P.,Jeggo P. .2004 .An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome. DNA Repair, 3 : 1227-1235.
[68] O'Driscoll M.,Cerosaletti K.M.,Girard K.M.,Dai Y.,Stumm M.,Kysela B.,Hirsch B.,Gennery A.,Palmer S.E.,Seidel J. .2001 .DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Molecular Cell, 8 : 1175-1185.
[69] Pegg A.E. .2011 .Multifaceted roles of alkyltransferase and related proteins in DNA repair, DNA damage, resistance to chemotherapy and research tools. , 24 : 618-639.
[70] Prakash S.,Prakash L. .2005 .Eukaryotic translesion synthesis DNA polymerases: specificity of structure and function. Annual Review of Biochemistry, 74 : 317-353.
[71] Reha-Krantz L.J. .1804 .DNA polymerase proofreading: multiple roles maintain genome stability. Biochimica et Biophysica Acta (BBA)-Proteins and Proteomics, : 1049-1063.
[72] Filippo San,Sung P.,Klein H. .2008 .Mechanism of eukaryotic homologous recombination. Annual Review of Biochemistry, 77 : 229-257.
[73] Savage S.A.,Alter B.P. .2008 .The role of telomere biology in bone marrow failure and other disorders. Mechanisms of Ageing and Development, 129 : 35-47.
[74] Schärer O.D. .2013 .Nucleotide excision repair in eukaryotes. Cold Spring Harbor Perspectives in Biology, 5 : a012609.
[75] Schumacher B.,Hoeijmakers J.H.,Garinis G.A. .2009 .Sealing the gap between nuclear DNA damage and longevity. Molecular and Cellular Endocrinology, 299 : 112-117.
[76] Sobinoff A.P.,Pickett H.A. .2017 .Alternative lengthening of telomeres: DNA repair pathways converge. Trends in Genetics, 33 : 921-932.
[77] Soulas-Sprauel P.,Rivera-Munoz P.,Malivert L.,Le Guyader G.,Abramowski V.,Revy P.,De Villartay J.P. .2007 .V (D) J and immunoglobulin class switch recombinations: a paradigm to study the regulation of DNA end-joining. Oncogene, 26 : 7780-7791.
[78] Srivenugopal K.S.,Yuan X.-H.,Friedman H.S.,AliOsman F. .1996 .Ubiquitination-dependent proteolysis of O 6-methylguanine-DNA methyltransferase in human and murine tumor cells following inactivation with O 6-benzylguanine or 1, 3-bis (2-chloroethyl)-1-nitrosourea. , 35 : 1328-1334.
[79] Stracker T.H.,Petrini J.H. .2011 .The MRE11 complex: starting from the ends. Nature Reviews Molecular Cell Biology, 12 : 90-103.
[80] Stratigopoulou T.P.,Guikema J.E. .2020 .Base excision repair in the immune system: small DNA lesions with big consequences. Frontiers in Immunology, 11 : 1084.
[81] Strza ka ,Kowalska E.,Dziga D.,Banas A.K. .2020 .The dark side of UV-induced DNA lesion repair. Genes, 11 : 1450.
[82] Sutherland B.M. .1978 .Enzymatic photoreactivation of DNA. DNA Repair Mechanisms, : 113-122.
[83] Swenberg J.A.,Lu K.,Moeller B.C.,Gao L.,Upton P.B.,Nakamura J.,Starr T.B. .2011 .Endogenous versus exogenous DNA adducts: their role in carcinogenesis, epidemiology and risk assessment. Toxicological Sciences, 120 : S130-S145.
[84] Taccioli G.E.,Gottlieb T.M.,Blunt T.,Priestley A.,Demengeot J.,Mizuta R.,Lehmann A.R.,Alt F.W.,Jackson S.P.,Jeggo P.A. .1994 .Ku80: product of the XRCC5 gene and its role in DNA repair and V (D) J recombination. Science, 265 : 1442-1445.
[85] Takashima H.,Boerkoel C.F.,John C.F.,Saifi G.M.,Salih M.A.,Armstrong D.,Mao Y.,Quiocho F.A.,Roa B.B.,Nakagawa M. .2002 .Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nature Genetics, 32 : 267-272.
[86] Wallace S.S.,Murphy D.L.,Sweasy J.B. .2012 .Base excision repair and cancer. Cancer Letters, 327 : 73-89.
[87] Wilson III,Bohr D.M.,V.A. D.M. .2007 .The mechanics of base excision repair and its relationship to aging and disease. DNA Repair, 6 : 544-559.
[88] Wilson III,Kim D.M.,Berquist D.,Sigurdson B.R.,A.J. B.R. .2011 .Variation in base excision repair capacity. Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 711 : 100-112.
[89] Wolters S.,Schumacher B. .2013 .Genome maintenance and transcription integrity in aging and disease. Frontiers in Genetics, 4 : 19.
[90] Worthley D.L.,Walsh M.D.,Barker M.,Ruszkiewicz A.,Bennett G.,Phillips K.,Suthers G. .2005 .Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer. Gastroenterology, 128 : 1431-1436.
[91] Wright W.D.,Shah S.S.,Heyer W.D. .2018 .Homologous recombination and the repair of DNA double-strand breaks. Journal of Biological Chemistry, 293 : 10524-10535.
[92] Yousefzadeh M.,Henpita C.,Vyas R.,Soto-Palma C.,Robbins P.,Niedernhofer L. .2021 .DNA damage-how and why we age?. Elife, 10 : e62852.
[93] Zhou T.,Lee J.W.,Tatavarthi H.,Lupski J.R.,Valerie K.,Povirk L.F. .2005 .Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1). Nucleic Acids Research, 33 : 289-297.
[94] Zhu Y.,Liu X.,Ding X.,Wang F.,Geng X. .2019 .Telomere and its role in the aging pathways: telomere shortening, cell senescence and mitochondria dysfunction. Biogerontology, 20 : 1-16.
Citations
Citations are not available for this document.
0

Citations

0

Downloads

10

Views