DOI QR코드

DOI QR Code

Novel Mutations of the PARP-1 Gene Associated with Colorectal Cancer in the Saudi Population

  • Alshammari, Atika Hazzaa ;
  • Shalaby, Manal Aly ;
  • Alanazi, Mohammad Saud ;
  • Saeed, Hesham Mahmoud
  • Published : 2014.04.30

Abstract

Background: colorectal cancer (CRC) is the third most common type of cancers and the fourth leading cause of death worldwide. In Saudi Arabia, CRC accounts for 8.5% of all tumors; it ranks first among all cancers in males and third among females. The aim of this study was to link between different PARP-1 mutations and risk of CRC in Saudi population and to determine common variants of PARP-1 in Saudi CRC patients and normal individuals. Materials and Methods: DNA samples were isolated from fifty CRC patients and from a comparable number of control subjects then sequenced to detect different variations present in exons 3, 17, and 21 of the PARP-1 gene. Results and Conclusions: When comparing the genotype and allele frequencies of all detected SNPs in CRC patients with those in controls, we found none were significantly different for all variants even the most common SNP in PARP-1 gene (Val762Ala). However, two novel alterations in exon 21 were found to be associated with increased risk of CRC. The variants identified as (1) Lys933Asn [p-value 0.0318] and (2) Lys945Asn [p-value 0.0257]. Our results suggest that PARP-1 Lys933Asn and Lys945Asn alterations could be associated with increased risk of CRC in the Saudi population.

Keywords

PARP-1;colorectal cancer;DNA repair enzymes;single nucleotide polymorphism;Saudi Arabia

References

  1. Shiraishi K, Kohno T, Tanai C, et al (2010). Association of DNA repair gene polymorphisms with response to platinum-based doublet chemotherapy in patients with non-small-cell lung cancer. J Clin Oncol, 28, 4945-52. https://doi.org/10.1200/JCO.2010.30.5334
  2. Ruf A, Mennissier de Murcia J, de Murcia G, et al (1996). Structure of the catalytic fragment of poly(AD-ribose) polymerase from chicken. Proc Natl Acad Sci USA, 93, 7481-5. https://doi.org/10.1073/pnas.93.15.7481
  3. Schreiber V, Dantzer F, Ame JC, et al (2006). Poly(ADP-ribose): novel functions for an old molecule. Nat Rev Mol Cell Bio, 7, 517-28. https://doi.org/10.1038/nrm1963
  4. Shiokawa M, Masutani M, Fujihara H, et al (2005) Genetic alteration of poly(ADP-ribose) polymerase-1 in human germ cell tumors. Jpn J Clin Oncol, 35, 97-102. https://doi.org/10.1093/jjco/hyi028
  5. Sibiani A, Shaheen M, Fallatah HI, et al (2011). Colorectal cancer in Saudi Arabia King Abdul Aziz University Hospital: A Five years experience. JMMS, 2, 1126-30.
  6. Stern MC, Conti DV, Siegmund KD, et al (2007). DNA repair single-nucleotide polymorphisms in colorectal cancer and their role as modifiers of the effect of cigarette smoking and alcohol in the Singapore Chinese Health Study. Cancer Epidemiol Biomarkers Prev, 16, 2363-72. https://doi.org/10.1158/1055-9965.EPI-07-0268
  7. Wang XG, Wang ZQ, Tong WM, et al (2007). PARP-1 Val762Ala polymorphism reduces enzymatic activity. Biochem Biophys Res Commun, 354, 122-6. https://doi.org/10.1016/j.bbrc.2006.12.162
  8. Yelamos J, Farres J, Llacuna L, et al (2011). PARP-1 and PARP-2: New players in tumor development. Am J Cancer Res, 1, 328-46.
  9. Yu H, Ma H, Yin M, et al (2012). Association between PARP-1 V762A polymorphism and cancer susceptibility: a metaanalysis. Genet Epidemiol, 36, 56-65. https://doi.org/10.1002/gepi.20663
  10. Zaremba T, Ketzer P, Cole M, et al (2009). Poly(ADP-ribose) polymerase-1 polymorphisms, expression and activity in selected human tumour cell lines. Br J Cancer, 101, 256-62. https://doi.org/10.1038/sj.bjc.6605166
  11. Korangy F, Julin DA (1992). Enzymatic effects of a lysine-toglutamine mutation in the ATP-binding consensus sequence in the RecD subunit of the RecBCD enzyme from escherichia coli. J Biol Chem, 267, 1733-40.
  12. Hassa PO, Haenni SS, Elser M, et al (2006). Nuclear ADPribosylation reactions in mammalian cells: where are we today and where are we going? Microbiol Mol Biol Rev, 70, 789-829. https://doi.org/10.1128/MMBR.00040-05
  13. He W, Liu T, Shan Y, et al (2012). PARP-1 polymorphisms increase the risk of gastric cancer in a Chinese population. Mol Diagn Ther, 16, 35-42. https://doi.org/10.1007/BF03256428
  14. Hideki O, Robert N, Hiromi S, et al (2010). Analysis of poly(ADP-ribose) polymerase-1 (PARP-1) gene alteration in human germ cell tumor cell lines. Cancer Genet Cytogenet, 197, 8-15. https://doi.org/10.1016/j.cancergencyto.2009.10.012
  15. Krishnakumar R, Kraus WL (2010). The PARP side of the nucleus: molecular actions, physiological, and clinical targets. Mol Cell, 39, 8-24. https://doi.org/10.1016/j.molcel.2010.06.017
  16. Langelier MF, Planck JL, Roy S, et al (2012). Structural basis for DNA damage-dependent poly(ADP-ribosyl)ation by human PARP-1. Science, 336, 728-32. https://doi.org/10.1126/science.1216338
  17. Luo X, Kraus WL (2012). On PAR with PARP: cellular stress signaling through poly(ADP-ribose) and PARP-1. Genes Dev, 26, 417-32. https://doi.org/10.1101/gad.183509.111
  18. Mosli MH, Al-Ahwal MS (2012). Colorectal cancer in the Kingdom of Saudi Arabia: need for screening. Asian Pac J Cancer Prev, 13, 3809-13. https://doi.org/10.7314/APJCP.2012.13.8.3809
  19. Ogino H, Nakayama R, Sakamoto H, et al (2010). Analysis of poly(ADP-ribose) polymerase-1 (PARP-1) gene alteration in human germ cell tumor cell lines. Cancer Genet Cytogenet, 197, 8-15. https://doi.org/10.1016/j.cancergencyto.2009.10.012
  20. Rouleau M, Patel A, Hendzel MJ, et al (2010). PARP inhibition: PARP1 and beyond. Nat Rev Cancer, 10, 293-301. https://doi.org/10.1038/nrc2812
  21. Amé JC, Spenlehauer C, de Murcia G (2004). The PARP superfamily. BioEssays, 26, 882-93. https://doi.org/10.1002/bies.20085
  22. Benkert P, Schwede T, Tosatto SCE (2009). QMEANclust:Estimation of protein model quality by combining a composite scoring function with structural density information. BMC Struct Biol, 20, 35-42.
  23. Al-Huzaim WM, Tamim H, Sheban S, et al (2010) ASCO (Gastrointestinal Cancers Symposium Abstract 327).
  24. Altmeyer M, Messner S, Hassa PO, et al (2009). Molecular mechanism of poly(ADP-ribosyl)ation by PARP1 and identification of lysine residues as ADP-ribose acceptor sites. Nucleic Acids Res, 37, 3723-38. https://doi.org/10.1093/nar/gkp229
  25. Brevik A, Joshi AD, Corral R, et al (2010). Polymorphisms in base excision repair genes as colorectal cancer risk factors and modifiers of the effect of diets high in red meat. Cancer Epidemiol Biomarkers Prev, 19, 3167-73. https://doi.org/10.1158/1055-9965.EPI-10-0606
  26. Bryant HE, Schultz N, Thomas HD, et al (2005). Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADPribose) polymerase. Nature, 434, 913-7. https://doi.org/10.1038/nature03443
  27. Cantó C, Auwerx J (2011). Interference between PARPs and SIRT1: a novel approach to healthy ageing? Aging, 3, 543-7.
  28. Cottet F, Blanche H, Verasdonck P, et al (2000). New polymorphisms in the human poly(ADP-ribose) polymerase-1 coding sequence: lack of association with longevity or with increased cellular poly(ADP-ribosyl)ation capacity. J Mol Med, 78, 431-40. https://doi.org/10.1007/s001090000132
  29. D'Amours D, Desnoyers S, D'Silva I, et al (1999). Poly(ADPribosyl) ation reactions in the regulation of nuclear functions. Biochem J, 342, 249-68. https://doi.org/10.1042/0264-6021:3420249
  30. Hakme A, Wong HK, Dantzer F, et al (2008). The expanding field of poly(ADP-ribosyl)ation reactions. protein modifications:beyond the usual suspects review series. EMBO J, 9, 1094-100. https://doi.org/10.1038/embor.2008.191
  31. Abd Elmageed ZY, Naura AS, Errami Y, et al (2012). The poly(ADP-ribose) polymerases (PARPs): New roles in intracellular transport. Cell Signal, 24, 1-8. https://doi.org/10.1016/j.cellsig.2011.07.019
  32. Ali AA, Timinszky G, Arribas-Bosacoma R, et al (2012). The zinc-finger domains of PARP-1 cooperate to recognize DNA strand breaks. Nat Struct Mol Biol, 19, 685-92. https://doi.org/10.1038/nsmb.2335