DNA repair diseases: what do they tell us about Cancer and aging?
Open accessAbstract
The discovery of DNA repair defects in human syndromes, initially in xeroderma pigmentosum (XP) but later in many others, led to striking observations on the association of molecular defects and patients' clinical phenotypes. For example, patients with syndromes resulting from defective nucleotide excision repair (NER) or translesion synthesis (TLS) present high levels of skin cancer in areas exposed to sunlight. However, some defects in NER also lead to more severe symptoms, such as developmental and neurological impairment and signs of premature aging. Skin cancer in XP patients is clearly associated with increased mutagenesis and genomic instability, reflecting the defective repair of DNA lesions. By analogy, more severe symptoms observed in NER-defective patients have also been associated with defective repair, likely involving cell death after transcription blockage of damaged templates. Endogenously induced DNA lesions, particularly through oxidative stress, have been identified as responsible for these severe pathologies. However, this association is not that clear and alternative explanations have been proposed. Despite high levels of exposure to intense sunlight, patients from tropical countries receive little attention or care, which likely also reflects the lack of understanding of how DNA damage causes cancer and premature aging.
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Inherited defects in each of the DNA repair pathways are linked to distinct genome instability syndromes characterized by developmental defects, increased incidence of cancer, and features of accelerated aging.
“Inherited defects in each of the DNA repair pathways are linked to distinct genome instability syndromes (Table 2). Broadly, the syndromes are characterized by developmental defects, increased incidence of cancer and features of accelerated aging (Cleaver, 1968; Menck and Munford, 2014; Wood, 2018).”
From DNA damage-how and why we age? (2021) · cites this paper as Menck and Munford, 2014
Most XP patients have mutations in one of seven genes, XPA through XPG, whose products are involved in nucleotide excision repair (NER).
“Most XP patients have mutations in one of seven genes (XPA through XPG), whose products are involved in the nucleotide excision repair (NER), a mechanism that removes DNA damage induced by UV radiation, as well as many other lesions that cause distortion of the DNA.”
From Sunlight damage to cellular DNA: focus on oxidatively generated lesions (2017) · cites this paper as [5]
Mutations induced in genes involved in maintenance of genomic integrity and control of the cell cycle result in high predisposition to skin cancers.
“It is well known that mutations induced in the genes that are involved in the maintenance of genomic integrity and in the control of the cell cycle result in a high predisposition to skin cancers [5].”
From Sunlight damage to cellular DNA: focus on oxidatively generated lesions (2017) · cites this paper as [5]
Deficiencies in repair of endogenous DNA lesions, including those generated during oxidative stress, are proposed as main causes for symptoms involving developmental and neurological problems and premature aging.
“Deficiencies related to the repair of endogenous DNA lesions, including those generated during oxidative stress, are proposed as the main causes for the symptoms that involve developmental and neurological problems as well as premature aging [5,192].”
From Sunlight damage to cellular DNA: focus on oxidatively generated lesions (2017) · cites this paper as [5]
Twenty to thirty percent of XP patients have neurological and/or developmental problems that are most likely associated with unrepaired DNA damage.
“Twenty to thirty percent of the XP patients also have neurological and or developmental problems that are most likely associated with unrepaired DNA damage [5].”
From Sunlight damage to cellular DNA: focus on oxidatively generated lesions (2017) · cites this paper as [5]
The resulting nick at the 5' end of the gap is sealed by DNA ligase I or III, restoring the original DNA molecule in an error-free manner.
“The resulting nick at the 5' end of the gap is sealed by DNA ligase I or III, thus restoring the original DNA molecule in an error-free manner [5,215,216].”
From Sunlight damage to cellular DNA: focus on oxidatively generated lesions (2017) · cites this paper as [5]
Transcription arrest, damage recognition and subsequent repair involve CSA and CSB proteins that are required for ubiquitination of the carboxy-terminal domain of RNAPII.
“Transcription arrest, damage recognition and the subsequent repair involve CSA and CSB proteins that are required for ubiquitination of the carboxy-terminal domain of RNAPII [5,215,216].”
From Sunlight damage to cellular DNA: focus on oxidatively generated lesions (2017) · cites this paper as [5]
XPC is one of the key DNA damage-recognition proteins in GGR, and mutations in XPC can increase cancer risk, although neurodegeneration is rarely seen in this group of patients.
“XPC is one of the key DNA damage-recognition proteins in the GGR and mutations in this gene can increase cancer risk, although neurodegeneration is rarely seen on this group of patients [5,243].”
From Sunlight damage to cellular DNA: focus on oxidatively generated lesions (2017) · cites this paper as [5]
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Cleaver, J. E., Feeney, L., Tang, J. Y., & Tuttle, P. (2006) · Journal of Investigative Dermatology · doi:10.1038/sj.jid.5700555 · Cited by 41 · see citing works
Nucleotide excision repair activity on DNA damage induced by photoactivated methylene blue
Berra, C. M., de Oliveira, C. S., Garcia, C. C. M., Rocha, C. R. R., Lerner, L. K., Lima, L. C. D. A., Baptista, M. D. S., & Menck, C. F. M. (2013) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2013.03.026 · Cited by 40 · see citing works
Self-citationWhole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology
Ortega‐Recalde, O., Vergara, J. I., Fonseca, D. J., Ríos, X. P., Mosquera, H., Bermúdez, O. M., Medina, C. L., Vargas, C. I., Pallares, A. E., Restrepo, C. M., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0064692 · Cited by 39 · see citing works
Cerebro-Oculo-Facio-Skeletal Syndrome
Suzumura, H., & Arisaka, O. (2010) · Advances in experimental medicine and biology · doi:10.1007/978-1-4419-6448-9_19 · Cited by 37 · see citing works
Niedernhofer, L. J., Bohr, V. A., Sander, M., & Kraemer, K. H. (2011) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2011.06.004 · Cited by 37 · see citing works
DNA damage profiles induced by sunlight at different latitudes
Schuch, A. P., Yagura, T., Makita, K., Yamamoto, H., Schuch, N. J., Agnez‐Lima, L. F., MacMahon, R. M., & Menck, C. F. M. (2012) · Environmental and Molecular Mutagenesis · doi:10.1002/em.21678 · Cited by 36 · see citing works
Self-citationKraemer, K. H., Andrews, A. D., Barrett, S. F., & Robbins, J. H. (1976) · Biochimica et Biophysica Acta (BBA) - Nucleic Acids and Protein Synthesis · doi:10.1016/0005-2787(76)90485-8 · Cited by 35 · see citing works
Nucleotide excision repair in chronic neurodegenerative diseases
Sepe, S., Payán‐Gómez, C., Milanese, C., Hoeijmakers, J. H. J., & Mastroberardino, P. G. (2013) · DNA repair · doi:10.1016/j.dnarep.2013.04.009 · Cited by 35 · see citing works
Xeroderma pigmentosum and molecular cloning of DNA repair genes.
Boulikas, T. (1996) · PubMed · Cited by 31 · see citing works
Conceptual developments in the causes of Cockayne syndrome
Cleaver, J. E., Bezrookove, V., Revet, I. M., & Huang, E. J. (2013) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2013.02.005 · Cited by 26 · see citing works
Halpern, J., Hopping, B., & Brostoff, J. (2008) · Cases Journal · doi:10.1186/1757-1626-1-254 · Cited by 18 · see citing works
Identification of XP Complementation Groups by Recombinant Adenovirus Carrying DNA Repair Genes
Leite, R. A., Marchetto, M. C., Muotri, A. R., Vasconcelos, D. D. M., de Oliveira, Z. N. P., Machado, M. C. R., & Menck, C. F. M. (2008) · Journal of Investigative Dermatology · doi:10.1038/jid.2008.239 · Cited by 16 · see citing works
Self-citationVreeswijk, M. P. G., Overkamp, M. W. J. I., Westland, B., van Hees‐Stuivenberg, S., Vrieling, H., Zdzienicka, M. Z., van Zeeland, A. A., & Mullenders, L. H. F. (1998) · Mutation Research/DNA Repair · doi:10.1016/s0921-8777(98)00038-x · Cited by 16 · see citing works
On the Search for Skin Gene Therapy Strategies of Xeroderma Pigmentosum Disease
Menck, C. F. M., Armelini, M. G., & Lima-Bessa, K. M. (2007) · Current Gene Therapy · doi:10.2174/156652307780859017 · Cited by 16 · see citing works
Self-citationThe role of the DNA damage response kinase ataxia telangiectasia mutated in neuroprotection.
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Xeroderma Pigmentosum Variant, XP-V: Its Product and Biological Roles
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Molecular cytogenetic parameters in fibroblasts from patients and carriers of xeroderma pigmentosum
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Oh, D. H., & Spivak, G. (2010) · Advances in experimental medicine and biology · doi:10.1007/978-1-4419-6448-9_9 · Cited by 5 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Sunlight damage to cellular DNA: focus on oxidatively generated lesions
Schuch, A. P., Moreno, N. C., Schuch, N. J., Menck, C. F. M., & Garcia, C. C. M. (2017) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2017.01.029 · Cited by 436 · see citing works
Self-citationDNA damage-how and why we age?
Yousefzadeh, M., Henpita, C., Vyas, R., Soto-Palma, C., Robbins, P., & Niedernhofer, L. (2021) · eLife · doi:10.7554/elife.62852 · Cited by 399 · see citing works
Nucleotide excision repair in humans
Spivak, G. (2015) · DNA Repair · doi:10.1016/j.dnarep.2015.09.003 · Cited by 354 · see citing works
Translesion synthesis mechanisms depend on the nature of DNA damage in UV-irradiated human cells
Quinet, A., Martins, D. J., Vessoni, A. T., Biard, D., Sarasin, A., Stary, A., & Menck, C. F. M. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw280 · Cited by 76 · see citing works
Self-citationDemography and Rapid Local Adaptation Shape Creole Cattle Genome Diversity in the Tropics
Pitt, D., Bruford, M. W., Barbato, M., Orozco‐terWengel, P., Martínez, R., & Sevane, N. (2019) · Evolutionary Applications · doi:10.1111/eva.12641 · Cited by 79 · see citing works
The impact of base excision DNA repair in age-related neurodegenerative diseases
Leandro, G. S., Sykora, P., & Bohr, V. A. (2015) · Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis · doi:10.1016/j.mrfmmm.2014.12.011 · Cited by 72 · see citing works
Lerner, L. K., Francisco, G., Soltys, D. T., Rocha, C. R. R., Quinet, A., Vessoni, A. T., Castro, L. P., David, T. I. P., Bustos, S. O., Strauss, B. E., et al. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkw1196 · Cited by 53 · see citing works
“In humans, a failure of these mechanisms leads to genetic syndromes, such as xeroderma pigmentosum (XP) and Cockayne syndrome (CS), which possess complex phenotypes of a high frequency of cancer and/or severe neurodegeneration and aging (1,2).”
Self-citationPhotosensitive human syndromes
Spivak, G., & Hanawalt, P. C. (2015) · Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis · doi:10.1016/j.mrfmmm.2014.11.003 · Cited by 27 · see citing works
Kajitani, G. S., Quayle, C., Garcia, C. C. M., Fotoran, W. L., dos Santos, J. F. R., van der Horst, G. T. J., Hoeijmakers, J. H. J., & Menck, C. F. M. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2022.800606 · Cited by 26 · see citing works
Self-citationTranscription Blockage by DNA Damage in Nucleotide Excision Repair-Related Neurological Dysfunctions
Kajitani, G. S., Nascimento, L. L. D. S., Neves, M. R. D. C., Leandro, G. D. S., Garcia, C. C. M., & Menck, C. F. M. (2021) · Seminars in Cell & Developmental Biology · doi:10.1016/j.semcdb.2020.10.009 · Cited by 22 · see citing works
Self-citationXPC deficiency is related to APE1 and OGG1 expression and function
de Melo, J. T. A., de Souza Timoteo, A. R., Lajus, T. B. P., Brandão, J. A., de Souza-Pinto, N. C., Menck, C. F. M., Campalans, A., Radicella, J. P., Vessoni, A. T., Muotri, A. R., et al. (2016) · Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis · doi:10.1016/j.mrfmmm.2016.01.004 · Cited by 21 · see citing works
Self-citationCheong, K., & Lee, A. (2020) · Acta Dermato Venereologica · doi:10.2340/00015555-3473 · Cited by 21 · see citing works
- Authors
- Menck, C. F., & Munford, V.
- Affiliations
- Universidade de São Paulo, Brazil
- Universidade de São Paulo (BR)
- ORCID
- Munford, Veridiana
- Venue
- Genetics and Molecular Biology
- Publisher
- FapUNIFESP (SciELO)
- Published
- 2014
- Volume
- 37
- Issue
- 1 suppl 1
- Pages
- 220-233
- ISSN
- 1415-4757 (ISSN-L)
- PMC
- PMC3983582
- OpenAlex
- W2093400775
- Cited by
- 162
- References
- 105
- Citations by year
- 2026: 2 · 2025: 6 · 2024: 6 · 2023: 12 · 2022: 13 · 2021: 15 · 2020: 16 · 2019: 14 · 2018: 14 · 2017: 13 · 2016: 21 · 2015: 19 · 2014: 11
- FWCI
- 2.01
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- Genetics and Molecular Biology (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (publishedVersion, other-oa)
- Americanae (AECID Library) (submittedVersion, cc-by-nc)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Fundação de Amparo à Pesquisa do Estado de São Paulo
- Conselho Nacional de Desenvolvimento Científico e Tecnológico
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Keywords
- xeroderma pigmentosum, nucleotide excision repair, translesion synthesis, premature aging, skin cancer, genomic instability, mutagenesis, oxidative stress, tropical populations
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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