Molecular characterization of homozygous variegate porphyria

Human Molecular Genetics

Volumn 7, Issue 12, 1998, Pages 1921-1925

  Roberts, Andrew G ^d   Puy, Hervé ^a   Dailey, Tamara A ^b   Morgan, Rhian R ^d   Whatley, Sharon D ^d   Dailey, Harry A ^b   Martasek, Pavel ^c   Nordmann, Yves ^a   Deybach, Jean Charles ^a   Elder, George H ^d  

^a HÔPITAL LOUIS MOURIER   (France)

^b UNIVERSITY OF GEORGIA   (United States)

^c CHARLES UNIVERSITY   (Czech Republic)

^d CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PROTOPORPHYRINOGEN OXIDASE;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; FEMALE; GENE MUTATION; HOMOZYGOTE; HUMAN; MALE; MISSENSE MUTATION; NONHUMAN; PORPHYRIA VARIEGATA; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; DNA; DNA MUTATIONAL ANALYSIS; ESCHERICHIA COLI; FEMALE; FLAVOPROTEINS; GENETIC COMPLEMENTATION TEST; HETERODUPLEX ANALYSIS; HOMOZYGOTE; HUMANS; MALE; MITOCHONDRIAL PROTEINS; MUTATION; MUTATION, MISSENSE; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PORPHYRIAS; PROTOPORPHYRINOGEN OXIDASE; SEQUENCE DELETION;

EID: 7844239345     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.12.1921     Document Type: Article

References (26)

1. Kirsch, R.E., Meissner, P.N. and Hift, R.J. (1998) Variegate porphyria. Semin. Liver Dis., 18, 33-41.
2. Elder, G.H., Hift, R.J. and Meissner, P.N. (1997) The acute porphyrias. Lancet, 349, 1613-1617.
3. Taketani, S., Inazawa, J., Abe, T., Furukawa, T., Kohno, H., Tokunaga, R., Nishimura, K. and lnokuchi, H. (1995) The human protoporphyrinogen oxidase gene (PPOX) - organization and location to chromosome 1. Genomics, 29, 698-703.
4. Roberts, A.C., Whatley, S.D., Daniels, J., Holmans, P., Fenton, J., Owen, M.J., Thompson, P., Long, C. and Elder, G.H. (1995) Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23. Hum. Mol. Genet., 4, 2387-2390.
5. Puy, H., Robréau, A.-M., Rosipal, R., Nordmann, Y. and Deybach, J.-C. (1996) Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene. Biochem. Biophys Res. Commun., 226, 227-230.
6. Meissner, P.N., Dailey, T.A., Hift, R.J., Ziman, M., Corrigall, A.V., Roberts, A.G., Meissner, D.M., Kirsch, R.E. and Dailey, H.A. (1996) A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nature Genet., 13, 95-97.
7. Mustajoki, P. (1980) Variegate porphyria. Q. J. Med., 49, 191-203.
8. Frank, J., Jugert, F.K., Kalka, K., Goerz, G., Merk, H.F. and Christiano, A.M. (1998) Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene. J. Invest. Dermatol., 110, 449-451.
9. Kordac, V., Deybach, J.-C., Martasek, P., Zeman, J., Da Silva, V., Nordmann, Y., Houstkova, H., Rubin, A. and Holub, J. (1984) Homozygous variegate porphyria. Lancet, i, 851.
10. Hift, R., Meissner, P.N., Todd, G., Kirby, P., Bilsland, D., Collins, P., Ferguson, J. and Moore, M.R. (1993) Homozygous variegate porphyria: an evolving clinical syndrome. Postgrad. Med. J., 69, 781-786.
11. Mustajoki, P., Tenhunen, R., Niemi, K.M., Nordmann, Y, Kaarianinen, H. and Norio, R. (1987) Homozygous variegate porphyria. Clin. Genet., 32, 300-305.
12. Murphy, G.M., Hawk, J.L.M., Magnus, I.A., Barrett, D.F., Elder, G.H. and Smith, S.G. (1986) Homozygous variegate porphyria: two similar cases in unrelated families. J. R. Soc. Med., 79, 361-363.
13. Frank, J., McGrath, J., Lam, H.,Graham, R.M., Hawk, J.L.M. and Christiano, A.M. (1998) Homozygous variegate porphyria: identification of mutations on both allules of the protoporphyrinogen oxidase gene in a severely affected proband. J. Invest. Dematol., 110, 452-455.
14. Chu, C.-S., Trapnell, B.C., Curristin, S., Cutting, G.R. and Crystal, R.G. (1993) Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nature Genet., 3, 151-156.
15. De Paepe, A., Nuytinck, L., Hausser, I., Anton-Lamprecht, I. and Naeyaert, J.-M (1997) Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. Am. J. Hum. Genet., 60, 547-554.
16. Bruggenwirth, H.T., Boehmer, A.L.M., Ramnarain, S., Verleun-Mooijman, M.C.T., Satijn, D.P.E., Trapman, J., Grootegoed, J.A. and Brinckmann, A.O. (1997) Molecular analysis of the androgen-receptor gene in a family with receptor-positive partial androgen insensitivity: an unusual type of intronic mutation. Am. J. Hum. Genet., 61, 1067-1077.
17. Sasarman, A., Letowski, J., Czaika, G., Ramirez, V., Nead, M.A., Jacobs, J.M. and Morais, R. (1993) Nucleotide sequence of the limb gene involved in the protoporphyrinogen oxidase activity of Eschesichia coli K12. Can. J. Microbiol., 39, 1155-1161.
18. Kauppinen, R., Timonen, K., Laitinen, E., Knusisto, K., Ahola, H., Tenhunen, R. and Mustajoki, P. (1997) Molecular genetics and clinical characteristics of variegate porphyria. Acta Haematol., 98 (suppl. 1), 96.
19. Martasek, P., Nordmann, Y. and Grandchamp, B. (1994) Homozygous hereditary coproporphyria caused by an arginine to tryptophan substitution in coproporphyrinogen oxidase and common intragenic polymorphisms. Hum. Mol. Genet., 3, 477-481.
20. Lamoril, J., Martasek, P., Deybach, J.-C. da Silva, V., Grandchamp, B. and Nordmann, Y. (1995) A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria. Hum. Mol. Genet., 4, 275-278.
21. Elder, G.H. (1997) Hepatic porphyrias in children. J. Inherit. Metab. Dis., 20, 237-246.
22. Kappas, A., Sassa, S., Galbraith, R.A. and Nordmann, Y. (1995) The porphyrias. In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic and Molecular Basis of Inherited Disease, 7th edn. McGraw-Hill, New York, NY, pp. 2103-2159.
23. Dailey, T.A. and Dailey, H.A. (1996) Human protoporphyrinogen oxidase: expression, purification and characterization of the cloned enzyme. Protein Sci., 5, 98-105.
24. Norris, P.G., Elder, G.H. and Hawk, J.L.M. (1990) Homozygous variegate porphyria: a case report. Br. J. Dermatol., 122, 253-257.
25. Puy, H., Deybach, J.-C., Lamoril, J., Robreau, A.M., Da Silva, V., Gouya, L., Grandchamp, B. and Nordmann, Y. (1997) Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria. Am. J. Hum. Genet., 60, 1373-1383.
26. Deng, W.P. and Nickoloff, J.A. (1992) Site-directed mutagenesis of virtually any plasmid by eliminating a unique site. Anal. Biochem., 200, 81-88.