CpG/CpNpG motifs in the coding region are preferred sites for mutagenesis in the breast cancer susceptibility genes

FEBS Letters

Volumn 581, Issue 24, 2007, Pages 4668-4674

  Cheung, Lydia W T ^a   Lee, Yiu Fai ^a   Ng, Tuen Wai ^a   Ching, Wai Ki ^a   Khoo, Ui Soon ^a   Ng, Michael K P ^b   Wong, Alice S T ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b HONG KONG BAPTIST UNIVERSITY   (Hong Kong)

Author keywords

BRCA1; BRCA2; Breast cancer susceptibility gene; Gene mutation

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; NUCLEOTIDASE;

ARTICLE; BREAST CANCER; COMPUTER SIMULATION; CONTROLLED STUDY; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC SUSCEPTIBILITY; HUMAN; MUTAGENESIS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN MOTIF;

BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; COMPUTER SIMULATION; GC RICH SEQUENCE; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTAGENESIS; OPEN READING FRAMES;

EID: 34548679388     PISSN: 00145793     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.febslet.2007.08.061     Document Type: Article

References (32)

1. Lux M.P., Fasching P.A., and Beckmann M.W. Hereditary breast and ovarian cancer: review and future perspectives. J. Mol. Med. 84 (2006) 16-28
2. Chen Y., Farmer A.A., Chen C.F., Jones D.C., Chen P.L., and Lee W.H. BRCA1 is a 220-kDa nuclear phosphoprotein that is expressed and phosphorylated in a cell cycle-dependent manner. Cancer Res. 56 (1996) 3168-3172
3. Bertwistle D., Swift S., Marston N.J., Jackson L.E., Crossland S., Crompton M.R., Marshall C.J., and Ashworth A. Nuclear location and cell cycle regulation of the BRCA2 protein. Cancer Res. 57 (1997) 5485-5488
4. Lander E.S., et al. Initial sequencing and analysis of the human genome. Nature 409 (2001) 860-921
5. Jego N., Thomas G., and Hamelin R. Short direct repeats flanking deletions, and duplicating insertions in p53 gene in human cancers. Oncogene 8 (1993) 209-213
6. Redston M.S., Caldas C., Seymour A.B., Hruban R.H., da Costa L., Yeo C.J., and Kern S.E. p53 mutations in pancreatic carcinoma and evidence of common involvement of homocopolymer tracts in DNA microdeletions. Cancer Res. 54 (1994) 3025-3033
7. Canning S., and Dryja T.P. Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene. Proc. Natl. Acad. Sci. USA 86 (1989) 5044-5048
8. Mancini D., Singh S., Ainsworth P., and Rodenhiser D. Constitutively methylated CpG dinucleotides as mutation hot spots in the retinoblastoma gene (RB1). Am. J. Hum. Genet. 61 (1997) 80-87
9. Rodenhiser D.I., Andrews J.D., Mancini D.N., Jung J.H., and Singh S.M. Homonucleotide tracts, short repeats and CpG/CpNpG motifs are frequent sites for heterogeneous mutations in the neurofibromatosis type 1 (NF1) tumour-suppressor gene. Mutat. Res. 373 (1997) 185-195
10. Rodenhiser D., Chakraborty P., Andrews J., Ainsworth P., Mancini D., Lopes E., and Singh S. Heterogenous point mutations in the BRCA1 breast cancer susceptibility gene occur in high frequency at the site of homonucleotide tracts, short repeats and methylatable CpG/CpNpG motifs. Oncogene 12 (1996) 2623-2629
11. Kondrashov A.S., and Rogozin I.B. Context of deletions and insertions in human coding sequences. Hum. Mutat. 23 (2004) 177-185
12. Schmucker B., and Krawczak M. Meiotic microdeletion breakpoints in the BRCA1 gene are significantly associated with symmetric DNA-sequence elements. Am. J. Hum. Genet. 61 (1997) 1454-1456
13. Krawczak M., Ball E.V., and Cooper D.N. Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes. Am. J. Hum. Genet. 63 (1998) 474-488
14. Todorova A., and Danieli G.A. Large majority of single-nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis. Hum. Mutat. 9 (1997) 537-547
15. Smith T.M., Lee M.K., Szabo C.I., Jerome N., McEuen M., Taylor M., Hood L., and King M.C. Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genome Res. 6 (1996) 1029-1049
16. Hu W., Feng Z., and Tang M.S. Preferential carcinogen-DNA adduct formation at codons 12 and 14 in the human K-ras gene and their possible mechanisms. Biochemistry 42 (2003) 10012-10023
17. Denissenko M.F., Chen J.X., Tang M.S., and Pfeifer G.P. Cytosine methylation determines hot spots of DNA damage in the human P53 gene. Proc. Natl. Acad. Sci. USA 94 (1997) 3893-3898
18. Skandalis A., Ford B.N., and Glickman B.W. Strand bias in mutation involving 5-methylcytosine deamination in the human hprt gene. Mutat. Res. 314 (1994) 21-26
19. Cooper D.N., and Youssoufian H. The CpG dinucleotide and human genetic disease. Hum. Genet. 78 (1988) 151-155
20. Ollila J., Lappalainen I., and Vihinen M. Sequence specificity in CpG mutation hotspots. FEBS Lett. 396 (1996) 119-122
21. Greenblatt M.S., Bennett W.P., Hollstein M., and Harris C.C. Mutations in the p53 tumor suppressor gene: clues to cancer etiology and molecular pathogenesis. Cancer Res. 54 (1994) 4855-4878
22. Cowell J.K., Smith T., and Bia B. Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma. Eur. J. Hum. Genet. 2 (1994) 281-290
23. Nagase H., and Nakamura Y. Mutations of the APC (adenomatous polyposis coli) gene. Hum. Mutat. 2 (1993) 425-434
24. Kunkel T.A. Misalignment-mediated DNA synthesis errors. Biochemistry 29 (1990) 8003-80011
25. Meuth M. The molecular basis of mutations induced by deoxyribonucleoside triphosphate pool imbalances in mammalian cells. Exp. Cell Res. 181 (1989) 305-316
26. Cooper D.N., and Krawczak M. The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Hum. Genet. 85 (1990) 55-74
27. Cooper D.N., and Krawczak M. Mechanisms of insertional mutagenesis in human genes causing genetic disease. Hum. Genet. 87 (1991) 409-415
28. Krawczak M., and Cooper D.N. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum. Genet. 86 (1991) 425-441
29. Taylor M.S., Ponting C.P., and Copley R.R. Occurrence and consequences of coding sequence insertions and deletions in Mammalian genomes. Genome Res. 14 (2004) 555-566
30. Wang F.J., and Ripley L.S. DNA sequence effects on single base deletions arising during DNA polymerization in vitro by Escherichia coli Klenow fragment polymerase. Genetics 136 (1994) 709-719
31. Ripley L.S. Model for the participation of quasi-palindromic DNA sequences in frameshift mutation. Proc. Natl. Acad. Sci. USA 79 (1982) 4128-4132
32. Chuzhanova N.A., Anassis E.J., Ball E.V., Krawczak M., and Cooper D.N. Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum. Mutat. 21 (2003) 28-44