Functional characterization of the RAD51D E233G genetic variant

Pharmacogenetics and Genomics

Volumn 19, Issue 2, 2009, Pages 153-160

  Nadkarni, Aditi ^a   Furda, Amy ^c   Rajesh, Changanamkandath ^b   McInnes, Campbell ^b   Ruch, Randall J ^a   Pittman, Douglas L ^b  

^a MEDICAL COLLEGE OF OHIO   (United States)

^b UNIVERSITY OF SOUTH CAROLINA   (United States)

^c UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

Author keywords

Breast cancer susceptibility; Chemoresistance; DNA repair; Homologous recombination; RAD51D; Telomeres

Indexed keywords

CISPLATIN; MESYLIC ACID METHYL ESTER; MITOMYCIN C; PACLITAXEL; RAD51 PROTEIN;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BREAST CANCER; CANCER SUSCEPTIBILITY; GENETIC VARIABILITY; MOLECULAR MODEL; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; TELOMERE; ULTRAVIOLET RADIATION;

AMINO ACID SUBSTITUTION; ANIMALS; CELL PROLIFERATION; DNA-BINDING PROTEINS; FIBROBLASTS; GENE DELETION; GENETIC VARIATION; MICE; MODELS, MOLECULAR; PROTEIN CONFORMATION; TWO-HYBRID SYSTEM TECHNIQUES;

MAMMALIA;

EID: 59549095586     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0b013e32831db2fd     Document Type: Article

References (41)

1. Karran P. Mechanisms of tolerance to DNA damaging therapeutic drugs. Carcinogenesis 2001; 22:1931-1937.
2. Cahill D, Connor B, Carney JR Mechanisms of eukaryotic DNA double strand break repair. Front Biosci 2006; 11:1958-1976.
3. Poplawski T, Blasiak J. DNA homologous recombination repair in mammalian cells. Postepy Biochem 2006; 52:180-193.
4. Yonetani Y, Hochegger H, Sonoda E, Shinya S, Yoshikawa H, Takeda S, Yamazoe M. Differential and collaborative actions of Rad51 paralog proteins in cellular response to DNA damage. Nucleic Acids Res 2005; 33: 4544-4552.
5. Li D, Liu H, Jiao L, Chang DZ, Beinart G, Wolff RA, et al. Significant effect of homologous recombination DNA repair gene polymorphisms on pancreatic cancer survival. Cancer Res 2006; 66:3323-3330.
6. Danoy P, Sonoda E, Lathrop M, Takeda S, Matsuda F. A naturally occurring genetic variant of human XRCC2 (R188H) confers increased resistance to cisplatin-induced DNA damage. Biochem Biophys Res Commun 2007; 352:763-768.
7. Connell PP, Jayathilaka K, Haraf DJ, Weichselbaum RR, Vokes EE, Lingen MW. Pilot study examining tumor expression of RAD51 and clinical outcomes in human head cancers. Int J Oncol 2006; 28:1113-1119.
8. Edwards SL, Brough R, Lord CJ, Natrajan R, Vatcheva R, Levine DA, et al. Resistance to therapy caused by intragenic deletion in BRCA2. Nature 2008; 451:1111-1115.
9. Godthelp BC, Wiegant WW, van Duijn-Goedhart A, Scharer OD, van Buul PP, Kanaar R, Zdzienicka MZ. Mammalian Rad51C contributes to DNA cross-link resistance, sister chromatid cohesion and genomic stability. Nucleic Acids Res 2002; 30:2172-2182.
10. Tarsounas M, Munoz P, Claas A, Smiraldo PG, Pittman DL, Blasco MA, West SC. Telomere maintenance requires the RAD51D recombination/repair protein. Cell 2004; 117:337-3347.
11. Rodriguez-Lopez R, Osorio A, Ribas G, Pollan M, Sanchez-Pulido L, de la Hoya M, et al. The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations. Int J Cancer 2004; 110:845-849.
12. Dowty JG, Lose F, Jenkins MA, Chang JH, Chen X, Beesley J, et al. The RAD51D E233G variant and breast cancer risk: population-based and clinic-based family studies of Australian women. Breast Cancer Res Treat 2008; 112:35-39
13. Schild D, Lio YC, Collins DW, Tsomondo T, Chen DJ. Evidence for simultaneous protein interactions between human Rad51 paralogs. J Biol Chem 2000; 275:16443-16449.
14. Lio YC, Mazin AV, Kowalczykowski SC, Chen DJ. Complex formation by the human Rad51 B and Rad51 C DNA repair proteins and their activities in vitro. J Biol Chem 2003; 278:2469-2478.
15. Braybrooke JP, Li JL, Wu L, Caple F, Benson FE, Hickson ID. Functional interaction between the Bloom's syndrome helicase and the RAD51 paralog, RAD51L3 (RAD51D). J Biol Chem 2003; 278:48357-48366.
16. Pittman DL, Schimenti JC. Midgestation lethality in mice deficient for the RecA-related gene, Rad51d/Rad51l3. Genesis 2000; 26:167-173.
17. Smiraldo PG, Gruver AM, Osborn JC, Pittman DL. Extensive chromosomal instability in Rad51d-deficient mouse cells. Cancer Res 2005; 65: 2089-2096.
18. Gruver AM, Miller KA, Rajesh C, Smiraldo PG, Kaliyaperumal S, Balder R, et al. The ATPase motif in RAD51D is required for resistance to DNA interstrand crosslinking agents and interaction with RAD51C. Mutagenesis 2005; 20:433-440.
19. Lesca C, Germanier M, Raynaud-Messina B, Pichereaux C, Etievant C, Emond S, et al. DNA damage induce gamma-tubulin-RAD51 nuclear complexes in mammalian cells. Oncogene 2005; 24:5165-5172.
20. Tsaryk R, Fabian K, Thacker J, Kaina B. Xrcc2 deficiency sensitizes cells to apoptosis by MNNG and the alkylating anticancer drugs temozolomide, fotemustine and mafosfamide. Cancer Lett 2006; 239:305-313.
21. Xing D, Orsulic S. A mouse model for the molecular characterization of brcal-associated ovarian carcinoma. Cancer Res 2006; 66:8949-8953.
22. Parkinson EK, Minty F. Anticancer therapy targeting telomeres and telomerase: current status. BioDrugs 2007; 21:375-385.
23. Masson JY, Stasiak AZ, Stasiak A, Benson FE, West SC. Complex formation by the human RAD51C and XRCC3 recombination repair proteins. Proc Natl Acad Sci USA 2001; 98:8440-8446.
24. Miller KA, Sawicka D, Barsky D, Albala JS. Domain mapping of the Rad51 paralog protein complexes. Nucleic Acids Res 2004; 32:169-178.
25. Sasaki MS, Takata M, Sonoda E, Tachibana A, Takeda S. Recombination repair pathway in the maintenance of chromosomal integrity against DNA interstrand crosslinks. Cytogenet Genome Res 2004; 104:28-34.
26. Thacker J. The RAD51 gene family, genetic instability and cancer. Cancer Lett 2005; 219:125-135.
27. Traverse G, Bettegowda C, Kraus J, Speicher MR, Kinzler KW, Vogelstein B, Lengauer C. Hyper-recombination and genetic instability in BLM-deficient epithelial cells. Cancer Res 2003; 63:8578-8581.
28. Honma M, Zhang LS, Hayashi M, Takeshita K, Nakagawa Y, Tanaka N, Sofuni T. Illegitimate recombination leading to allelic loss and unbalanced translocation in p53-mutated human lymphoblastoid cells. Mol Cell Biol 1997; 17: 4774-4781.
29. Helleday T, Lo J, van Gent DC, Engelward BP. DNA double-strand break repair: from mechanistic understanding to cancer treatment. DNA Repair (Amst) 2007; 6:923-935.
30. Li X, Heyer WD. Homologous recombination in DNA repair and DNA damage tolerance. Cell Res 2008; 18:99-113.
31. Chan N, Koritzinsky M, Zhao H, Bindra R, Glazer PM, Powell S, et al. Chronic hypoxia decreases synthesis of homologous recombination proteins to offset chemoresistance and radioresistance. Cancer Res 2008; 68: 605-614.
32. Multani AS, Chandra J, McConker J, Sen S, Cabral TF, Pathak S. Cell death in paclitaxel-dependent chinese hamster ovary cells is initiated by the loss of telomeric DNA repeats. Oncol Res 1999; 11:455-460.
33. Ishii K, Yang WL, Cvijic ME, Kikuchi Y, Nagata I, Chin KV. Telomere shortening by cisplatin in yeast nucleotide excision repair mutant. Exp Cell Res 2000; 255:95-101.
34. Lee KH, Rudolph KL, Ju YJ, Greenberg RA, Cannizzaro L, Chin L, et al. Telomere dysfunction alters the chemotherapeutic profile of transformed cells. Proc Natl Acad Sci U S A 2001; 98:3381-3386.
35. Hande MP, Balajee AS, Natarajan AT. Induction of telomerase activity by UV-irradiation in Chinese hamster cells. Oncogene 1997; 15:1747-1752.
36. Biroccio A, Gabellini C, Amodei S, Benassi B, Del Bufalo D, Elli R, et al. Telomere dysfunction increases cisplatin and ecteinascidin-743 sensitivity of melanoma cells. Mol Pharmacol 2003; 63:632-638.
37. Multani AS, Li C, Ozen M, Imam AS, Wallace S, Pathak S. Cell-killing by paclitaxel in a metastatic murine melanoma cell line is mediated by extensive telomere erosion with no decrease in telomerase activity. Oncol Rep 1999; 6:39-44.
38. Opitz OG. Telomeres, telomerase and malignant transformation. Curr Mol Med 2005; 5:219-226.
39. Griffith JD, Comeau L, Rosenfield S, Stansel RM, Bianchi A, Moss H, de Lange T. Mammalian telomeres end in a large duplex loop. Cell 1999; 97:503-514.
40. Pellegrini L, Yu DS, Lo T, Anand S, Lee M, Blundell TL, Venkitaraman AR. Insights into DNA recombination from the structure of a RAD51-BRCA2 complex. Nature 2002; 420:287-293.
41. Hoeijmakers JH. Genome maintenance mechanisms for preventing cancer. Nature 2001; 411:366-374.