Single nucleotide polymorphisms in DNA glycosylases: From function to disease

Research output: Contribution to journalReview article

7 Citations (Scopus)

Abstract

Oxidative stress is associated with a growing number of diseases that span from cancer to neurodegeneration. Most oxidatively induced DNA base lesions are repaired by the base excision repair (BER) pathway which involves the action of various DNA glycosylases. There are numerous genome wide studies attempting to associate single-nucleotide polymorphisms (SNPs) with predispositions to various types of disease; often, these common variants do not have significant alterations in their biochemical function and do not exhibit a convincing phenotype. Nevertheless several lines of evidence indicate that SNPs in DNA repair genes may modulate DNA repair capacity and contribute to risk of disease. This overview provides a convincing picture that SNPs of DNA glycosylases that remove oxidatively generated DNA lesions are susceptibility factors for a wide disease spectrum that includes besides cancer (particularly lung, breast and gastrointestinal tract), cochlear/ocular disorders, myocardial infarction and neurodegenerative disorders which can be all grouped under the umbrella of oxidative stress-related pathologies.

Original languageEnglish
Pages (from-to)278-291
Number of pages14
JournalFree Radical Biology and Medicine
Volume107
DOIs
Publication statusPublished - Jun 1 2017

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DNA Glycosylases
Polymorphism
Single Nucleotide Polymorphism
Nucleotides
DNA Repair
Repair
Oxidative stress
DNA
Oxidative Stress
Genes
Cochlea
Pathology
Neurodegenerative Diseases
Gastrointestinal Tract
Lung Neoplasms
Breast
Myocardial Infarction
Genome
Phenotype
Neoplasms

Keywords

  • DNA glycosylases
  • DNA repair
  • Oxidative stress related pathologies
  • Single nucleotide polymorphisms

ASJC Scopus subject areas

  • Biochemistry
  • Physiology (medical)

Cite this

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title = "Single nucleotide polymorphisms in DNA glycosylases: From function to disease",
abstract = "Oxidative stress is associated with a growing number of diseases that span from cancer to neurodegeneration. Most oxidatively induced DNA base lesions are repaired by the base excision repair (BER) pathway which involves the action of various DNA glycosylases. There are numerous genome wide studies attempting to associate single-nucleotide polymorphisms (SNPs) with predispositions to various types of disease; often, these common variants do not have significant alterations in their biochemical function and do not exhibit a convincing phenotype. Nevertheless several lines of evidence indicate that SNPs in DNA repair genes may modulate DNA repair capacity and contribute to risk of disease. This overview provides a convincing picture that SNPs of DNA glycosylases that remove oxidatively generated DNA lesions are susceptibility factors for a wide disease spectrum that includes besides cancer (particularly lung, breast and gastrointestinal tract), cochlear/ocular disorders, myocardial infarction and neurodegenerative disorders which can be all grouped under the umbrella of oxidative stress-related pathologies.",
keywords = "DNA glycosylases, DNA repair, Oxidative stress related pathologies, Single nucleotide polymorphisms",
author = "Mariarosaria D'Errico and Eleonora Parlanti and Barbara Pascucci and Paola Fortini and Sara Baccarini and Valeria Simonelli and Eugenia Dogliotti",
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TY - JOUR

T1 - Single nucleotide polymorphisms in DNA glycosylases

T2 - From function to disease

AU - D'Errico, Mariarosaria

AU - Parlanti, Eleonora

AU - Pascucci, Barbara

AU - Fortini, Paola

AU - Baccarini, Sara

AU - Simonelli, Valeria

AU - Dogliotti, Eugenia

PY - 2017/6/1

Y1 - 2017/6/1

N2 - Oxidative stress is associated with a growing number of diseases that span from cancer to neurodegeneration. Most oxidatively induced DNA base lesions are repaired by the base excision repair (BER) pathway which involves the action of various DNA glycosylases. There are numerous genome wide studies attempting to associate single-nucleotide polymorphisms (SNPs) with predispositions to various types of disease; often, these common variants do not have significant alterations in their biochemical function and do not exhibit a convincing phenotype. Nevertheless several lines of evidence indicate that SNPs in DNA repair genes may modulate DNA repair capacity and contribute to risk of disease. This overview provides a convincing picture that SNPs of DNA glycosylases that remove oxidatively generated DNA lesions are susceptibility factors for a wide disease spectrum that includes besides cancer (particularly lung, breast and gastrointestinal tract), cochlear/ocular disorders, myocardial infarction and neurodegenerative disorders which can be all grouped under the umbrella of oxidative stress-related pathologies.

AB - Oxidative stress is associated with a growing number of diseases that span from cancer to neurodegeneration. Most oxidatively induced DNA base lesions are repaired by the base excision repair (BER) pathway which involves the action of various DNA glycosylases. There are numerous genome wide studies attempting to associate single-nucleotide polymorphisms (SNPs) with predispositions to various types of disease; often, these common variants do not have significant alterations in their biochemical function and do not exhibit a convincing phenotype. Nevertheless several lines of evidence indicate that SNPs in DNA repair genes may modulate DNA repair capacity and contribute to risk of disease. This overview provides a convincing picture that SNPs of DNA glycosylases that remove oxidatively generated DNA lesions are susceptibility factors for a wide disease spectrum that includes besides cancer (particularly lung, breast and gastrointestinal tract), cochlear/ocular disorders, myocardial infarction and neurodegenerative disorders which can be all grouped under the umbrella of oxidative stress-related pathologies.

KW - DNA glycosylases

KW - DNA repair

KW - Oxidative stress related pathologies

KW - Single nucleotide polymorphisms

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U2 - 10.1016/j.freeradbiomed.2016.12.002

DO - 10.1016/j.freeradbiomed.2016.12.002

M3 - Review article

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VL - 107

SP - 278

EP - 291

JO - Free Radical Biology and Medicine

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SN - 0891-5849

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