title: DNA polymerases and human diseases.
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.
authors.affiliation: Department of Therapeutic Radiology, Yale University School of Medicine, 15 York Street, HRT 313D, P.O. Box 208040, New Haven, CT 06520-8040, USA. joann.sweasy@yale.edu
authors.forename: Joann B
authors.initials: JB
authors.lastname: Sweasy
authors.forename: Julia M
authors.initials: JM
authors.lastname: Lauper
authors.forename: Kristin A
authors.initials: KA
authors.lastname: Eckert
mesh_terms: D004259:DNA-Directed DNA Polymerase / Q000235:genetics* / Q000378:metabolism*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000201:enzymology* / Q000235:genetics*; D019636:Neurodegenerative Diseases / Q000201:enzymology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: D004259:DNA-Directed DNA Polymerase