Optimizing high-resolution melting analysis for the detection of mutations of GPR30/GPER-1 in breast cancer

Gene

Volumn 501, Issue 2, 2012, Pages 118-126

  Aihara, Masamune ^a   Yamamoto, Shigeru ^b   Nishioka, Hiroko ^a   Inoue, Yutaro ^a   Hamano, Kimikazu ^b   Oka, Masaaki ^b   Mizukami, Yoichi ^a  

^a YAMAGUCHI UNIVERSITY   (Japan)

^b YAMAGUCHI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Breast cancer; GPR30; High resolution melting; Open reading frame; Saturation DNA binding dye; Taq polymerase

Indexed keywords

DYE; G PROTEIN COUPLED RECEPTOR 30; G PROTEIN ESTROGEN RECEPTOR 1; GENOMIC DNA; GUANINE NUCLEOTIDE BINDING PROTEIN; MAGNESIUM; MAGNESIUM CHLORIDE; SATURATION DNA BINDING DYE; TAQ POLYMERASE; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; BREAST CANCER; CLINICAL ARTICLE; CONTROLLED STUDY; DNA EXTRACTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HETEROZYGOTE; HIGH RESOLUTION MELTING ANALYSIS; HIGH THROUGHPUT SCREENING; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; OPEN READING FRAME; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TEMPERATURE;

ADULT; AGED; AGED, 80 AND OVER; BASE SEQUENCE; BREAST NEOPLASMS; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEIC ACID DENATURATION; OPEN READING FRAMES; RECEPTORS, ESTROGEN; RECEPTORS, G-PROTEIN-COUPLED;

EID: 84860768649     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.04.029     Document Type: Article

References (46)

1. Baxter E.J., et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005, 365:1054-1061.
2. Campbell I.G., et al. Mutation of the PIK3CA gene in ovarian and breast cancer. Cancer Res. 2004, 64:7678-7681.
3. Carmeci C., Thompson D.A., Ring H.Z., Francke U., Weigel R.J. Identification of a gene (GPR30) with homology to the G-protein-coupled receptor superfamily associated with estrogen receptor expression in breast cancer. Genomics 1997, 45:607-617.
4. Chateigner-Boutin A.L., Small I. A rapid high-throughput method for the detection and quantification of RNA editing based on high-resolution melting of amplicons. Nucleic Acids Res. 2007, 35:e114.
5. Feng Y., Gregor P. Cloning of a novel member of the G protein-coupled receptor family related to peptide receptors. Biochem. Biophys. Res. Commun. 1997, 231:651-654.
6. Filardo E.J., Thomas P. GPR30: a seven-transmembrane-spanning estrogen receptor that triggers EGF release. Trends Endocrinol. Metab. 2005, 16:362-367.
7. Fujimoto K., et al. Molecular cloning of rat transmembrane domain protein of 40kDa regulated in adipocytes and its expression in H9c2 cells exposed to ischemic hypoxia and reoxygenation. Biochim. Biophys. Acta 2001, 1518:173-177.
8. Funakoshi T., Yanai A., Shinoda K., Kawano M.M., Mizukami Y. G protein-coupled receptor 30 is an estrogen receptor in the plasma membrane. Biochem. Biophys. Res. Commun. 2006, 346:904-910.
9. Garritano S., et al. Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus. BMC Genet. 2009, 10:5.
10. Giess M., Lattrich C., Springwald A., Goerse R., Ortmann O., Treeck O. GPR30 gene polymorphisms are associated with progesterone receptor status and histopathological characteristics of breast cancer patients. J. Steroid Biochem. Mol. Biol. 2010, 118:7-12.
11. Grievink H., Stowell K.M. Identification of ryanodine receptor 1 single-nucleotide polymorphisms by high-resolution melting using the LightCycler 480 System. Anal. Biochem. 2008, 374:396-404.
12. Gundry C.N., Vandersteen J.G., Reed G.H., Pryor R.J., Chen J., Wittwer C.T. Amplicon melting analysis with labeled primers: a closed-tube method for differentiating homozygotes and heterozygotes. Clin. Chem. 2003, 49:396-406.
13. Harris T.J., McCormick F. The molecular pathology of cancer. Nat. Rev. Clin. Oncol. 2010, 7:251-265.
14. Herrmann M.G., Durtschi J.D., Wittwer C.T., Voelkerding K.V. Expanded instrument comparison of amplicon DNA melting analysis for mutation scanning and genotyping. Clin. Chem. 2007, 53:1544-1548.
15. Hewson K., Noormohammadi A.H., Devlin J.M., Mardani K., Ignjatovic J. Rapid detection and non-subjective characterisation of infectious bronchitis virus isolates using high-resolution melt curve analysis and a mathematical model. Arch. Virol. 2009, 154:649-660.
16. Isensee J., et al. Expression pattern of G protein-coupled receptor 30 in LacZ reporter mice. Endocrinology 2009, 150:1722-1730.
17. James C., et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005, 434:1144-1148.
18. Kimura M., Mizukami Y., Miura T., Fujimoto K., Kobayashi S., Matsuzaki M. Orphan G protein-coupled receptor, GPR41, induces apoptosis via a p53/Bax pathway during ischemic hypoxia and reoxygenation. J. Biol. Chem. 2001, 276:26453-26460.
19. Krypuy M., et al. High resolution melting for mutation scanning of TP53 exons 5-8. BMC Cancer 2007, 7:168.
20. Levine D.A., et al. Frequent mutation of the PIK3CA gene in ovarian and breast cancers. Clin. Cancer Res. 2005, 11:2875-2878.
21. Loi S., et al. PIK3CA mutations associated with gene signature of low mTORC1 signaling and better outcomes in estrogen receptor-positive breast cancer. Proc. Natl. Acad. Sci. U. S. A. 2010, 107:10208-10213.
22. Maggiolini M., et al. The G protein-coupled receptor GPR30 mediates c-fos up-regulation by 17beta-estradiol and phytoestrogens in breast cancer cells. J. Biol. Chem. 2004, 279:27008-27016.
23. Martensson U.E., et al. Deletion of the G protein-coupled receptor 30 impairs glucose tolerance, reduces bone growth, increases blood pressure, and eliminates estradiol-stimulated insulin release in female mice. Endocrinology 2009, 150:687-698.
24. Martino A., Mancuso T., Rossi A.M. Application of high-resolution melting to large-scale, high-throughput SNP genotyping: a comparison with the TaqMan method. J. Biomol. Screen. 2010, 15:623-629.
25. Menon V., Mehrotra A., Saxena R., Jaffery N.F. Comparative evaluation of megadose methylprednisolone with dexamethasone for treatment of primary typical optic neuritis. Indian J. Ophthalmol. 2007, 55:355-359.
26. Mizukami Y. In vivo functions of GPR30/GPER-1, a membrane receptor for estrogen: from discovery to functions in vivo. Endocr. J. 2010, 57:101-107.
27. Monis P.T., Giglio S., Saint C.P. Comparison of SYTO9 and SYBR Green I for real-time polymerase chain reaction and investigation of the effect of dye concentration on amplification and DNA melting curve analysis. Anal. Biochem. 2005, 340:24-34.
28. Otto C., et al. GPR30 does not mediate estrogenic responses in reproductive organs in mice. Biol. Reprod. 2009, 80:34-41.
29. Owman C., Blay P., Nilsson C., Lolait S.J. Cloning of human cDNA encoding a novel heptahelix receptor expressed in Burkitt's lymphoma and widely distributed in brain and peripheral tissues. Biochem. Biophys. Res. Commun. 1996, 228:285-292.
30. Pandey D.P., Lappano R., Albanito L., Madeo A., Maggiolini M., Picard D. Estrogenic GPR30 signalling induces proliferation and migration of breast cancer cells through CTGF. EMBO J. 2009, 28:523-532.
31. Pardanani A., et al. TG101209, a small molecule JAK2-selective kinase inhibitor potently inhibits myeloproliferative disorder-associated JAK2V617F and MPLW515L/K mutations. Leukemia 2007, 21:1658-1668.
32. Pepers B.A., Schut M.H., Vossen R.H., van Ommen G.J., den Dunnen J.T., van Roon-Mom W.M. Cost-effective HRMA pre-sequence typing of clone libraries; application to phage display selection. BMC Biotechnol. 2009, 9:50.
33. Quinn J.A., Graeber C.T., Frackelton A.R., Kim M., Schwarzbauer J.E., Filardo E.J. Coordinate regulation of estrogen-mediated fibronectin matrix assembly and epidermal growth factor receptor transactivation by the G protein-coupled receptor, GPR30. Mol. Endocrinol. 2009, 23:1052-1064.
34. Revankar C.M., Cimino D.F., Sklar L.A., Arterburn J.B., Prossnitz E.R. A transmembrane intracellular estrogen receptor mediates rapid cell signaling. Science 2005, 307:1625-1630.
35. Saal L.H., et al. PIK3CA mutations correlate with hormone receptors, node metastasis, and ERBB2, and are mutually exclusive with PTEN loss in human breast carcinoma. Cancer Res. 2005, 65:2554-2559.
36. Sordella R., Bell D.W., Haber D.A., Settleman J. Gefitinib-sensitizing EGFR mutations in lung cancer activate anti-apoptotic pathways. Science 2004, 305:1163-1167.
37. Steer P.A., Kirkpatrick N.C., O'Rourke D., Noormohammadi A.H. Classification of fowl adenovirus serotypes by use of high-resolution melting-curve analysis of the hexon gene region. J. Clin. Microbiol. 2009, 47:311-321.
38. Takada Y., Kato C., Kondo S., Korenaga R., Ando J. Cloning of cDNAs encoding G protein-coupled receptor expressed in human endothelial cells exposed to fluid shear stress. Biochem. Biophys. Res. Commun. 1997, 240:737-741.
39. Thomas P., Pang Y., Filardo E.J., Dong J. Identity of an estrogen membrane receptor coupled to a G protein in human breast cancer cells. Endocrinology 2005, 146:624-632.
40. Ulbrichova-Douderova D., Martasek P. Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis. Anal. Biochem. 2009, 395:41-48.
41. Verstovsek S., et al. WP1066, a novel JAK2 inhibitor, suppresses proliferation and induces apoptosis in erythroid human cells carrying the JAK2 V617F mutation. Clin. Cancer Res. 2008, 14:788-796.
42. Vossen R.H., Aten E., Roos A., den Dunnen J.T. High-resolution melting analysis (HRMA): more than just sequence variant screening. Hum. Mutat. 2009, 30:860-866.
43. White H.E., Hall V.J., Cross N.C. Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes. Clin. Chem. 2007, 53:1960-1962.
44. Whittall R.A., et al. Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients. Ann. Clin. Biochem. 2010, 47:44-55.
45. Wojdacz T.K., Dobrovic A. Methylation-sensitive high resolution melting (MS-HRM): a new approach for sensitive and high-throughput assessment of methylation. Nucleic Acids Res. 2007, 35:e41.
46. Yatabe Y. EGFR mutations and the terminal respiratory unit. Cancer Metastasis Rev. 2010, 29:23-36.