Cited by 93DNA Repair MechanismsGenetic factors in colorectal cancerGenomics and Rare Diseases

DNA polymerases and human diseases

Sweasy, Joann B., Lauper, Julia M., Eckert, Kristin A.·2006·Radiation Research

Abstract

DNA polymerases function in DNA replication, repair, recombination and translesion synthesis. Currently, 15 DNA polymerase genes have been identified in human cells, belonging to four distinct families. In this review, we briefly describe the biochemical activities and known cellular roles of each DNA polymerase. Our major focus is on the phenotypic consequences of mutation or ablation of individual DNA polymerase genes. We discuss phenotypes of current mouse models and altered polymerase functions and the relationship of DNA polymerase gene mutations to human cell phenotypes. Interestingly, over 120 single nucleotide polymorphisms (SNPs) have been identified in human populations that are predicted to result in nonsynonymous amino acid substitutions of DNA polymerases. We discuss the putative functional consequences of these SNPs in relation to human disease.

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Crossref · 10.1667/rr0706.1

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Authors
Sweasy, J. B., Lauper, J. M., & Eckert, K. A.
Affiliations
  • Yale University (US)
  • Pennsylvania State University (US)
Venue
Radiation Research
Published
2006-11
Volume
166
Issue
5
Pages
693-714
ISSN
  • 0033-7587 (ISSN-L)
  • 1938-5404
OpenAlex
W2122083165
Cited by
93
References
273
Citations by year
2026: 1 · 2025: 2 · 2024: 2 · 2023: 3 · 2022: 1 · 2021: 2 · 2020: 1 · 2019: 1 · 2018: 6 · 2017: 4 · 2016: 3 · 2015: 5 · 2014: 2 · 2013: 3 · 2012: 13
FWCI
0.58
Type
journal article
Language
en
Open access
closed
Locations
  • Radiation Research (publishedVersion)
  • PubMed (publishedVersion)
  • BioOne Complete (BioOne) (submittedVersion)
Funders
National Cancer Institute (R21CA120098, R01CA080830, CA-16038, CA80830, CA120098, P01CA016038, CA 10006)
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 › Genomics and Rare Diseases
Keywords
DNA polymerase, DNA replication, DNA repair, translesion synthesis, DNA recombination, mouse model, single nucleotide polymorphisms, nonsynonymous substitutions, human disease
MeSH terms
DNA-Directed DNA Polymerase, Humans, Mutation, Neoplasms, Neurodegenerative Diseases, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide

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