Hypermethylation of the wild-type ferrochelatase allele is closely associated with severe liver complication in a family with erythropoietic protoporphyria

Biochemical and Biophysical Research Communications

Volumn 321, Issue 4, 2004, Pages 851-858

  Onaga, Yukiko ^a   Ido, Akio ^a,b   Uto, Hirofumi ^a   Hasuike, Satoru ^a   Kusumoto, Kazunori ^a   Moriuchi, Akihiro ^a,b   Numata, Masatsugu ^a,b   Nagata, Kenji ^a   Hori, Takeshi ^a   Hayashi, Katsuhiro ^a   Tsubouchi, Hirohito ^a  

^a UNIVERSITY OF MIYAZAKI   (Japan)

^b KYOTO UNIVERSITY HOSPITAL   (Japan)

Author keywords

CpG methylation; Erythropoietic protoporphyria; Ferrochelatase; Liver failure; Low expression; Splicing mutation

Indexed keywords

FERROCHELATASE;

ARTICLE; CAUSE OF DEATH; CPG ISLAND; DISEASE SEVERITY; DNA FLANKING REGION; ENZYME ACTIVITY; ERYTHROPOIETIC PROTOPORPHYRIA; EXON; FAMILY HISTORY; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; GENOTYPE; HUMAN; LIVER DISEASE; LIVER FAILURE; MALE; METHYLATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; WILD TYPE;

ADULT; AGED; ALLELES; BASE SEQUENCE; CPG ISLANDS; DNA METHYLATION; DNA PRIMERS; DNA, COMPLEMENTARY; EXONS; FEMALE; FERROCHELATASE; HAPLOTYPES; HUMANS; JAPAN; LIVER FAILURE; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; PORPHYRIA, HEPATOERYTHROPOIETIC; PROMOTER REGIONS (GENETICS); REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANSCRIPTION, GENETIC;

EID: 3843110091     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbrc.2004.06.178     Document Type: Article

References (28)

1. Y. Nordmann Erythropoietic protoporphyria and hepatic complications J. Hepatol. 16 1992 4 6
2. L. Gouya, J.C. Deybach, J. Lamoli, V.D. Silva, C. Beaumont, B. Grandchamp, and Y. Nordmann Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele Am. J. Hum. Genet. 58 1996 292 299
3. L. Gouya, H. Puy, J. Lamoli, V.D. Silva, C. Beaumont, B. Grandchamp, Y. Nordmann, and J.C. Deybach Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation Blood 93 1999 2105 2110
4. L. Gouya, H. Puy, A.M. Robreau, M. Bourgeois, J. Lamoril, V. Da Silva, B. Grandchamp, and J.C. Deybach The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wild type FECH Nat. Genet. 30 2002 27 28
5. M.A. Surani Imprinting and the initiation of gene silencing in the germ line Cell 93 1998 309 312
6. P.A. Jones, and P.W. Laird Cancer epigenetics comes of age Nat. Genet. 21 1999 163 167
7. R. Singal, R. Ferris, J.A. Little, S.Z. Wang, and G.D Ginder Methylation of the minimal promoter of an embryonic globin gene silences transcription in primary erythroid cells Proc. Natl. Acad. Sci. USA 94 1997 13724 13729
8. D.N. Mancini, D.I. Rodenhiser, P.J. Ainsworth, F.P. O'Malley, S.M. Singh, W. Xing, and T.K. Archer CpG methylation within the 5′ regulatory region of the BRCA1 gene is tumor specific and includes a putative CREB binding site Oncogene 16 1998 1161 1169
9. Y. Nakahashi, S. Taketani, M. Okuda, K. Inoue, and R. Tokunaga Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase Biochem. Biophys. Res. Commun. 173 1990 748 755
10. P. Chapdelaire, S. Delehaye, E. Gauthier, R.R. Trembley, and J.Y. Dupe A one-hour procedure for the preparation of genomic DNA from frozen tissue Bio. Techniques 14 1993 163 164
11. M. Frommer, L.E. McDonald, D.S. Millar, C.M. Collis, F. Watt, G.W. Griff, P.L. Molley, and C.L. Paul A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands Proc. Natl. Acad. Sci. USA 89 1992 1827 1831
12. J.G. Herman, J.R. Graff, S. Myohanen, B.D. Nelkin, and S.B. Baylin Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands Proc. Natl. Acad. Sci. USA 93 1996 9821 9826
13. F. Larsen, G. Gunderson, R. Lopez, and H. Prydz CpG island as gene markers in the human genome Genomics 13 1992 1095 1107
14. A. Tugores, S.T. Magness, and D.A. Brenner A single promoter directs both housekeeping and erythroid preferential expression of the human ferrochelatase gene J. Biol. Chem. 269 1994 30780 30797
15. X. Schneider-Yin, L. Gouya, A. Meier-Weinand, J.C. Deybach, and E.I. Minder New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care Eur. J. Pediatr. 159 2000 719 725
16. Y. Nakahashi, H. Miyazaki, Y. Kadota, Y. Naitoh, K. Inoue, M. Yamamoto, N. Hayashi, and S. Taketani Molecular defect in human erythropoietic protoporphyria with fatal liver failure Hum. Genet. 91 1993 303 306
17. U.B. Rufenacht, L. Gouya, X. Schneider-Yin, H. Puy, B.W. Schafer, R. Aquaron, Y. Nordmann, E.I. Minder, and J.C. Deybach Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria Am. J. Hum. Genet. 62 1998 1341 1352
18. V.M. Sellers, T.A. Dailey, and H.A. Dailey Examination of ferrochelatase mutation that cause erythropoietic protoporphyria Blood 91 1998 3980 3985
19. E.I. Minder, L. Gouya, X. Schneider-Yin, and J.C. Deybach A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria Cell. Mol. Biol. 48 2002 91 96
20. F.P. Chen, H. Risheg, Y. Liu, and J. Bloomer Ferrochelatase gene mutations in erythropoietic protoporphyria: focus on liver disease Cell. Mol. Biol. 48 2002 83 89
21. L.N. Went, and E.C. Klasen Genetic aspects of erythropoietic protoporphyria Ann. Hum. Genet. 48 1984 105 117
22. A. Wiman, Y. Floderus, and P. Harper Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria J. Hum. Genet. 48 2003 70 76
23. H. Risheg, F.P. Chen, and J.R. Bloomer Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria Mol. Genet. Metab. 80 2003 196 206
24. M. Brandeis, D. Frank, I. Keshet, Z. Siegfreid, M. Mendelsohn, A. Nemes, V. Temper, A. Razin, and H. Cedar Sp1 elements protect a CpG island from de novo methylation Nature 371 1994 435 438
25. D. Macleod, J. Charlton, J. Mullins, and A.P. Bird Sp1 sites in the mouse aprt gene promoter are required to prevent methylation of the CpG island Genes Dev. 8 1994 2282 2292
26. Z. Siegfried, S. Eden, M. Mendelsohn, X. Feng, B.-Z. Tsuberi, and H. Cedar DNA methylation represses transcription in vivo Nat. Genet. 22 1999 203 206
27. T. Hohn, S. Corsten, S. Rieke, M. Mullar, and H. Rothnie Methylation of coding region alone inhibits gene expression in plant protoplasts Proc. Natl. Acad. Sci. USA 93 1996 8334 8339
28. S.T. Magness, N. Maeda, and D.A. Brenner An exon 10 deletion in the mouse ferrochelatase gene has a dominant-negative effect and cause mild protoporphyria Blood 100 2002 1470 1477