XRCC1

From Wikipedia, the free encyclopedia


X-ray repair complementing defective repair in Chinese hamster cells 1
PDB rendering based on 1cdz.
Available structures: 1cdz, 1xna, 1xnt, 2d8m
Identifiers
Symbol(s) XRCC1; RCC
External IDs OMIM: 194360 MGI99137 HomoloGene31368
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 7515 22594
Ensembl ENSG00000073050 ENSMUSG00000051768
Uniprot P18887 Q3TGI0
Refseq NM_006297 (mRNA)
NP_006288 (protein)
NM_009532 (mRNA)
NP_033558 (protein)
Location Chr 19: 48.74 - 48.77 Mb Chr 7: 24.26 - 24.28 Mb
Pubmed search [1] [2]

XRCC1 is a DNA repair protein.

It complexes with DNA ligase III.

The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity.[1]

[edit] References

[edit] Further reading

  • Hung RJ, Hall J, Brennan P, Boffetta P (2006). "Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review.". Am. J. Epidemiol. 162 (10): 925–42. doi:10.1093/aje/kwi318. PMID 16221808. 
  • Thompson LH, Brookman KW, Jones NJ, et al. (1991). "Molecular cloning of the human XRCC1 gene, which corrects defective DNA strand break repair and sister chromatid exchange.". Mol. Cell. Biol. 10 (12): 6160–71. PMID 2247054. 
  • Thompson LH, Bachinski LL, Stallings RL, et al. (1990). "Complementation of repair gene mutations on the hemizygous chromosome 9 in CHO: a third repair gene on human chromosome 19.". Genomics 5 (4): 670–9. PMID 2591959. 
  • Gyapay G, Morissette J, Vignal A, et al. (1994). "The 1993-94 Généthon human genetic linkage map.". Nat. Genet. 7 (2 Spec No): 246–339. doi:10.1038/ng0694supp-246. PMID 7545953. 
  • Wei Q, Xu X, Cheng L, et al. (1995). "Simultaneous amplification of four DNA repair genes and beta-actin in human lymphocytes by multiplex reverse transcriptase-PCR.". Cancer Res. 55 (21): 5025–9. PMID 7585546. 
  • Lamerdin JE, Montgomery MA, Stilwagen SA, et al. (1995). "Genomic sequence comparison of the human and mouse XRCC1 DNA repair gene regions.". Genomics 25 (2): 547–54. PMID 7789989. 
  • Caldecott KW, McKeown CK, Tucker JD, et al. (1994). "An interaction between the mammalian DNA repair protein XRCC1 and DNA ligase III.". Mol. Cell. Biol. 14 (1): 68–76. PMID 8264637. 
  • Trask B, Fertitta A, Christensen M, et al. (1993). "Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA markers.". Genomics 15 (1): 133–45. PMID 8432525. 
  • Kubota Y, Nash RA, Klungland A, et al. (1997). "Reconstitution of DNA base excision-repair with purified human proteins: interaction between DNA polymerase beta and the XRCC1 protein.". EMBO J. 15 (23): 6662–70. PMID 8978692. 
  • Nash RA, Caldecott KW, Barnes DE, Lindahl T (1997). "XRCC1 protein interacts with one of two distinct forms of DNA ligase III.". Biochemistry 36 (17): 5207–11. doi:10.1021/bi962281m. PMID 9136882. 
  • Shen MR, Jones IM, Mohrenweiser H (1998). "Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans.". Cancer Res. 58 (4): 604–8. PMID 9485007. 
  • Price EA, Bourne SL, Radbourne R, et al. (1998). "Rare microsatellite polymorphisms in the DNA repair genes XRCC1, XRCC3 and XRCC5 associated with cancer in patients of varying radiosensitivity.". Somat. Cell Mol. Genet. 23 (4): 237–47. PMID 9542526. 
  • Masson M, Niedergang C, Schreiber V, et al. (1998). "XRCC1 is specifically associated with poly(ADP-ribose) polymerase and negatively regulates its activity following DNA damage.". Mol. Cell. Biol. 18 (6): 3563–71. PMID 9584196. 
  • Taylor RM, Wickstead B, Cronin S, Caldecott KW (1998). "Role of a BRCT domain in the interaction of DNA ligase III-alpha with the DNA repair protein XRCC1.". Curr. Biol. 8 (15): 877–80. PMID 9705932. 
  • Zhou ZQ, Walter CA (1998). "Cloning and characterization of the promoter of baboon XRCC1, a gene involved in DNA strand-break repair.". Somat. Cell Mol. Genet. 24 (1): 23–39. PMID 9776979. 
  • Taylor RM, Moore DJ, Whitehouse J, et al. (2000). "A cell cycle-specific requirement for the XRCC1 BRCT II domain during mammalian DNA strand break repair.". Mol. Cell. Biol. 20 (2): 735–40. PMID 10611252. 
  • Marintchev A, Robertson A, Dimitriadis EK, et al. (2000). "Domain specific interaction in the XRCC1-DNA polymerase beta complex.". Nucleic Acids Res. 28 (10): 2049–59. PMID 10773072. 
  • Duell EJ, Wiencke JK, Cheng TJ, et al. (2000). "Polymorphisms in the DNA repair genes XRCC1 and ERCC2 and biomarkers of DNA damage in human blood mononuclear cells.". Carcinogenesis 21 (5): 965–71. PMID 10783319. 
  • Whitehouse CJ, Taylor RM, Thistlethwaite A, et al. (2001). "XRCC1 stimulates human polynucleotide kinase activity at damaged DNA termini and accelerates DNA single-strand break repair.". Cell 104 (1): 107–17. PMID 11163244. 
  • Dulic A, Bates PA, Zhang X, et al. (2001). "BRCT domain interactions in the heterodimeric DNA repair protein XRCC1-DNA ligase III.". Biochemistry 40 (20): 5906–13. PMID 11352725. 


[edit] External links