title: Coding variants in human double-strand break DNA repair genes.
abstract: DNA repair is essential for the maintenance of genomic integrity. Consequently, altered repair capacity may impact individual health in such areas as aging and susceptibility to certain diseases. Defects in some DNA repair genes, for example, have been shown to increase cancer risk, accelerate aging and impair neurological functions. Now that over 115 genes directly involved in human DNA repair have been characterized at the DNA sequence level, the identification of single nucleotide polymorphisms (SNPs) in DNA repair genes is becoming a reality. This information will likely lead to the identification of alleles, or combinations of alleles that affect disease predisposition. This communication summarizes SNPs identified to date in the coding region of 24 human double-strand break repair (DSBR) genes. SNP data for four of these genes were obtained by screening at least 100 individuals in our laboratory. For each SNP, the codon number, amino acid substitution, allele frequency and population information is supplied.
authors.affiliation: Centre for Biomedical Research, University of Victoria, P.O. Box 3020 STN CSC,Victoria, BC, Canada V8W 3N5.
authors.forename: Cindy C
authors.initials: CC
authors.lastname: Ruttan
authors.forename: Barry W
authors.initials: BW
authors.lastname: Glickman
mesh_terms: D019943:Amino Acid Substitution; D019457:Chromosome Breakage; D003062:Codon; D004247:DNA; D004260:DNA Repair / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009369:Neoplasms / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011159:Population Surveillance
chemical_list: D003062:Codon; D004247:DNA