A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy

PLoS ONE

Volumn 7, Issue 2, 2012, Pages

  Papagregoriou, Gregory ^a   Erguler, Kamil ^a   Dweep, Harsh ^b   Voskarides, Konstantinos ^a   Koupepidou, Panayiota ^a   Athanasiou, Yiannis ^c   Pierides, Alkis ^d   Gretz, Norbert ^b   Felekkis, Kyriacos N ^e   Deltas, Constantinos ^a  

^a UNIVERSITY OF CYPRUS   (Cyprus)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c NICOSIA GENERAL HOSPITAL   (Cyprus)

^d Hippocrateon Hospital   (Cyprus)

^e UNIVERSITY OF NICOSIA   (Cyprus)

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT; HEPARIN BINDING EPIDERMAL GROWTH FACTOR; LUCIFERASE; MICRORNA; MICRORNA 1207 5P; UNCLASSIFIED DRUG; COMPLEMENT; FHR5 PROTEIN, HUMAN; HEPARIN-BINDING EGF-LIKE GROWTH FACTOR; MIRN1207 MICRORNA, HUMAN; SIGNAL PEPTIDE;

3' UNTRANSLATED REGION; ALLELE; ARTICLE; BINDING SITE; BIOINFORMATICS; CFHR5 GENE; CHRONIC KIDNEY FAILURE; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; DNA SEQUENCE; DOWN REGULATION; FOLLOW UP; GENE; GENE EXPRESSION REGULATION; GENE IDENTIFICATION; GENETIC ALGORITHM; GENETIC ASSOCIATION; GENETIC TRANSFECTION; GENOTYPE; GLOMERULOPATHY; HBEGF GENE; HUMAN; HUMAN CELL; KIDNEY DISEASE; MARKER GENE; MOLECULAR CLONING; PODOCYTE; PREDICTIVE VALUE; REPORTER GENE; SINGLE NUCLEOTIDE POLYMORPHISM; WESTERN BLOTTING; GENE THERAPY; GENETIC POLYMORPHISM; GENETICS; HOSPITALIZATION; MEMBRANOUS GLOMERULONEPHRITIS;

BINDING SITES; COMPLEMENT SYSTEM PROTEINS; DISEASE PROGRESSION; GENE EXPRESSION REGULATION; GENE THERAPY; GLOMERULONEPHRITIS, MEMBRANOUS; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; KIDNEY FAILURE, CHRONIC; MICRORNAS; POLYMORPHISM, GENETIC; SEVERITY OF ILLNESS INDEX;

EID: 84856485045     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0031021     Document Type: Article

References (58)

1. Wiggins RC, (2007) The spectrum of podocytopathies: a unifying view of glomerular diseases. Kidney Int 71: 1205-1214.
2. Barisoni L, Schnaper HW, Kopp JB, (2007) A proposed taxonomy for the podocytopathies: a reassessment of the primary nephrotic diseases. Clin J Am Soc Nephrol 2: 529-542.
3. Cohen RA, Brown RS, (2003) Clinical practice. Microscopic hematuria. N Engl J Med 348: 2330-2338.
4. Voskarides K, Damianou L, Neocleous V, Zouvani I, Christodoulidou S, et al. (2007) COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy. J Am Soc Nephrol 18: 3004-3016.
5. Gale DP, de Jorge EG, Cook HT, Martinez-Barricarte R, Hadjisavvas A, et al. (2010) Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis. Lancet 376: 794-801.
6. Harvey SJ, Jarad G, Cunningham J, Goldberg S, Schermer B, et al. (2008) Podocyte-specific deletion of dicer alters cytoskeletal dynamics and causes glomerular disease. J Am Soc Nephrol 19: 2150-2158.
7. Shi S, Yu L, Chiu C, Sun Y, Chen J, et al. (2008) Podocyte-selective deletion of dicer induces proteinuria and glomerulosclerosis. J Am Soc Nephrol 19: 2159-2169.
8. Ho J, Ng KH, Rosen S, Dostal A, Gregory RI, et al. (2008) Podocyte-specific loss of functional microRNAs leads to rapid glomerular and tubular injury. J Am Soc Nephrol 19: 2069-2075.
9. Farazi TA, Juranek SA, Tuschl T, (2008) The growing catalog of small RNAs and their association with distinct Argonaute/Piwi family members. Development 135: 1201-1214.
10. Wu L, Fa J, Belasco GJ, (2006) MicroRNAs direct rapid deadenylation of mRNA. PNAS Vol. 103 pp. 4034-4039.
11. Reinhart BJ, Slack FJ, Basson M, Pasquinelli AE, Bettinger JC, et al. (2000) The 21-nucleotide let-7 RNA regulates developmental timing in Caenorhabditis elegans. Nature 403: 901-906.
12. Chen K, Song F, Calin GA, Wei Q, Hao X, et al. (2008) Polymorphisms in microRNA targets: a gold mine for molecular epidemiology. Carcinogenesis 29: 1306-1311.
13. Lal A, Navarro F, Maher CA, Maliszewski LE, Yan N, et al. (2009) miR-24 Inhibits cell proliferation by targeting E2F2, MYC, and other cell-cycle genes via binding to "seedless" 3′UTR microRNA recognition elements. Mol Cell 35: 610-625.
14. Mencia A, Modamio-Hoybjor S, Redshaw N, Morin M, Mayo-Merino F, et al. (2009) Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. Nat Genet 41: 609-613.
15. Lewis MA, Quint E, Glazier AM, Fuchs H, De Angelis MH, et al. (2009) An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice. Nat Genet 41: 614-618.
16. Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, et al. (2005) Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science 310: 317-320.
17. Beetz C, Schule R, Deconinck T, Tran-Viet KN, Zhu H, et al. (2008) REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain 131: 1078-1086.
18. Zuchner S, Wang G, Tran-Viet KN, Nance MA, Gaskell PC, et al. (2006) Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet 79: 365-369.
19. Xu J, Hu Z, Xu Z, Gu H, Yi L, et al. (2009) Functional variant in microRNA-196a2 contributes to the susceptibility of congenital heart disease in a Chinese population. Hum Mutat 30: 1231-1236.
20. Sun G, Yan J, Noltner K, Feng J, Li H, et al. (2009) SNPs in human miRNA genes affect biogenesis and function. RNA 15: 1640-1651.
21. Jazdzewski K, Liyanarachchi S, Swierniak M, Pachucki J, Ringel MD, et al. (2009) Polymorphic mature microRNAs from passenger strand of pre-miR-146a contribute to thyroid cancer. Proc Natl Acad Sci U S A 106: 1502-1505.
22. Saunders MA, Liang H, Li WH, (2007) Human polymorphism at microRNAs and microRNA target sites. Proc Natl Acad Sci U S A 104: 3300-3305.
23. Georges M, Clop A, Marcq F, Takeda H, Pirottin D, et al. (2006) Polymorphic microRNA-target interactions: a novel source of phenotypic variation. Cold Spring Harb Symp Quant Biol 71: 343-350.
24. Hariharan M, Scaria V, Brahmachari SK, (2009) dbSMR: a novel resource of genome-wide SNPs affecting microRNA mediated regulation. BMC Bioinformatics 10: 108.
25. Bao L, Zhou M, Wu L, Lu L, Goldowitz D, et al. (2007) PolymiRTS Database: linking polymorphisms in microRNA target sites with complex traits. Nucleic Acids Res 35: D51-54.
26. Pierides A, Voskarides K, Athanasiou Y, Ioannou K, Damianou L, et al. (2009) Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis. Nephrol Dial Transplant 24: 2721-2729.
27. Athanasiou Y, Voskarides K, Gale DP, Damianou L, Patsias C, et al. (2011) Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees. CJASN In Press.
28. Hall TA, (1999) BioEdit: a user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT. Nucl Acids Symp Ser 41: 95-98.
29. Saleem MA, O'Hare MJ, Reiser J, Coward RJ, Inward CD, et al. (2002) A conditionally immortalized human podocyte cell line demonstrating nephrin and podocin expression. J Am Soc Nephrol 13: 630-638.
30. Lydersen S, Fagerland MW, Laake P, (2009) Recommended tests for association in 2×2 tables. Stat Med 28: 1159-1175.
31. Barnard GA, (1947) Significance tests for 2×2 tables. Biometrika 34: 123-138.
32. Mehta CR, Hilton LF, (1993) Exact power of conditional and unconditional tests: Going beyond the 2×2 contingency table. Am Stat 47: 91-98.
33. Mehta CR, (1991) StatXact: A Statistical Package for Exact Nonparametric Inference. Am Stat 45: 74-75.
34. Ludbrook J, (2008) Analysis of 2×2 tables of frequencies: matching test to experimental design. Int J Epidemiol 37: 1430-1435.
35. Deltas C, Pierides A, Voskarides K, (2011) The role of molecular genetics in diagnosing familial hematuria(s). Pediatr Nephrol Epub 21 Jun 2011- DOI: 10.1007/s00467-011-1935-5.
36. Liu M, Shi S, Senthilnathan S, Yu J, Wu E, et al. (2010) Genetic variation of DKK3 may modify renal disease severity in ADPKD. J Am Soc Nephrol 21: 1510-1520.
37. Persu A, Stoenoiu MS, Messiaen T, Davila S, Robino C, et al. (2002) Modifier effect of ENOS in autosomal dominant polycystic kidney disease. Hum Mol Genet 11: 229-241.
38. Lamnissou K, Zirogiannis P, Trygonis S, Demetriou K, Pierides A, et al. (2004) Evidence for association of endothelial cell nitric oxide synthase gene polymorphism with earlier progression to end-stage renal disease in a cohort of Hellens from Greece and Cyprus. Genet Test 8: 319-324.
39. Iwai N, Naraba H, (2005) Polymorphisms in human pre-miRNAs. Biochem Biophys Res Commun 331: 1439-1444.
40. Lv K, Guo Y, Zhang Y, Wang K, Jia Y, et al. (2008) Allele-specific targeting of hsa-miR-657 to human IGF2R creates a potential mechanism underlying the association of ACAA-insertion/deletion polymorphism with type 2 diabetes. Biochem Biophys Res Commun 374: 101-105.
41. Tan Z, Randall G, Fan J, Camoretti-Mercado B, Brockman-Schneider R, et al. (2007) Allele-specific targeting of microRNAs to HLA-G and risk of asthma. Am J Hum Genet 81: 829-834.
42. Wang G, van der Walt JM, Mayhew G, Li YJ, Zuchner S, et al. (2008) Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein. Am J Hum Genet 82: 283-289.
43. Martin MM, Buckenberger JA, Jiang J, Malana GE, Nuovo GJ, et al. (2007) The human angiotensin II type 1 receptor+1166 A/C polymorphism attenuates microrna-155 binding. J Biol Chem 282: 24262-24269.
44. Song F, Zheng H, Liu B, Wei S, Dai H, et al. (2009) An miR-502-binding site single-nucleotide polymorphism in the 3′-untranslated region of the SET8 gene is associated with early age of breast cancer onset. Clin Cancer Res 15: 6292-6300.
45. Mulder GM, Nijboer WN, Seelen MA, Sandovici M, Bos EM, et al. (2010) Heparin binding epidermal growth factor in renal ischaemia/reperfusion injury. J Pathol 221: 183-192.
46. Smith JP, Pozzi A, Dhawan P, Singh AB, Harris RC, (2009) Soluble HB-EGF induces epithelial-to-mesenchymal transition in inner medullary collecting duct cells by upregulating Snail-2. Am J Physiol Renal Physiol 296: F957-965.
47. Luo CC, Ming YC, Chao HC, Chu SM, Pang ST, (2011) Heparin-Binding Epidermal Growth Factor-Like Growth Factor Downregulates Expression of Activator Protein-1 Transcription Factor after Intestinal Ischemia-Reperfusion Injury. Neonatology 99: 241-246.
48. Zhuang S, Kinsey GR, Rasbach K, Schnellmann RG, (2008) Heparin-binding epidermal growth factor and Src family kinases in proliferation of renal epithelial cells. Am J Physiol Renal Physiol 294: F459-468.
49. Takemura T, Murata Y, Hino S, Okada M, Yanagida H, et al. (1999) Heparin-binding EGF-like growth factor is expressed by mesangial cells and is involved in mesangial proliferation in glomerulonephritis. J Pathol 189: 431-438.
50. Paizis K, Kirkland G, Khong T, Katerelos M, Fraser S, et al. (1999) Heparin-binding epidermal growth factor-like growth factor is expressed in the adhesive lesions of experimental focal glomerular sclerosis. Kidney Int 55: 2310-2321.
51. Uchiyama-Tanaka Y, Matsubara H, Mori Y, Kosaki A, Kishimoto N, et al. (2002) Involvement of HB-EGF and EGF receptor transactivation in TGF-beta-mediated fibronectin expression in mesangial cells. Kidney Int 62: 799-808.
52. Huppi K, Volfovsky N, Runfola T, Jones TL, Mackiewicz M, et al. (2008) The identification of microRNAs in a genomically unstable region of human chromosome 8q24. Mol Cancer Res 6: 212-221.
53. Alvarez ML, DiStefano JK, (2011) Functional characterization of the plasmacytoma variant translocation 1 gene (PVT1) in diabetic nephropathy. PLoS One 6: e18671.
54. Guan Y, Kuo WL, Stilwell JL, Takano H, Lapuk AV, et al. (2007) Amplification of PVT1 contributes to the pathophysiology of ovarian and breast cancer. Clin Cancer Res 13: 5745-5755.
55. Graham M, Adams JM, (1986) Chromosome 8 breakpoint far 3′ of the c-myc oncogene in a Burkitt's lymphoma 2;8 variant translocation is equivalent to the murine pvt-1 locus. EMBO J 5: 2845-2851.
56. Enciso-Mora V, Broderick P, Ma Y, Jarrett RF, Hjalgrim H, et al. (2010) A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3). Nat Genet 42: 1126-1130.
57. Hanson RL, Craig DW, Millis MP, Yeatts KA, Kobes S, et al. (2007) Identification of PVT1 as a candidate gene for end-stage renal disease in type 2 diabetes using a pooling-based genome-wide single nucleotide polymorphism association study. Diabetes 56: 975-983.
58. Millis MP, Bowen D, Kingsley C, Watanabe RM, Wolford JK, (2007) Variants in the plasmacytoma variant translocation gene (PVT1) are associated with end-stage renal disease attributed to type 1 diabetes. Diabetes 56: 3027-3032.