Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria

Blood

Volumn 88, Issue 9, 1996, Pages 3589-3600

  McManus, Julie F ^a   Begley, C Glenn ^b   Sassa, Shigeru ^b   Ratnaike, Sujiva ^b  

^a UNIVERSITY OF GEORGIA   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; CARBOXYLIC ACID DERIVATIVE; GLUTAMINE; GLYCINE; ISOLEUCINE; LYSINE; PORPHYRINOGEN; THREONINE; UROPORPHYRINOGEN DECARBOXYLASE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; ENZYME DEFECT; ENZYME SUBSTRATE; ERYTHROCYTE; FAMILIAL DISEASE; GENE MUTATION; HEME SYNTHESIS; HUMAN; MOLECULAR CLONING; PORPHYRIA CUTANEA TARDA; PRIORITY JOURNAL;

EID: 0029858578     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v88.9.3589.bloodjournal8893589     Document Type: Article

References (42)

1. Karlsson S, Nienhuis AW: Developmental regulation of human globin genes. Annu Rev Biochem 54:1071, 1985
2. London IM, Levin DH, Matts RL, Thomas NSB, Petryshyn R, Chen J-J: Regulation of protein synthesis, in Boyer PC, Drebs EG (eds): The Enzymes, vol XVIII, Part B. Orlando, FL, Academic, 1987, p 360
3. Beaumont C, Deybach JC, Grandchamp B, Silva VD, de Verneuil H, Nordmann Y: Effects of succinylacetone on dimethyl-sulfoxide-mediated induction of heme pathway enzymes in mouse friend virus-transformed erythroleukemia cells. Exp Cell Res 154:474, 1984
4. Kappas A, Sassa S, Galbraith RA, Nordmann Y: The porphyrias, in Scriver CR, Beaudet AZ, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease (ed 6). London, UK, McGraw Hill, 1989, p 1305
5. Waldenstrom J: Studien uber porphyria. Acta Med Scand 82:1, 1937 (suppl)
6. Elder GH, Roberts AG, De Salamanca RE: Genetics and pathogenesis of human uroporphyrinogen decarboxylase defects. Clin Biochem 22:163, 1989
7. Pinol-Aguade J, Castells A, Indacochea A, Rodes J: A case of biochemically unclassifiable hepatic porphyria. Br J Dermatol 81:270, 1969
8. Kushner J, Barbuto AJ, Lee GR: An inherited enzymatic defect in porphyria cutanea tarda: Decreased uroporphyrinogen decarboxylase activity. J Clin Invest 58:1089, 1976
9. Elder GHE, Lee GB, Tovey JA: Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutantea tarda. N Engl J Med 299:274, 1978
10. de Verneuil H, Aitken G, Nordmann Y: Familial and sporadic porphyria cutanea tarda: Two different diseases. Hum Genet 44:145, 1978
11. Romana M, Grandchamp B, Dubart A, Amselem S, Chabret C, Nordmann Y, Goossens M, Romeo P-H: Identification of a new mutation responsible for hepatoerythropoietic porphryia. Eur Clin Invest 21:226, 1991
12. Jackson AH, Sancovich HA, Ferramola AM, Evans N, Games DE, Matlin SA, Elder GH, Smith SG: Macrocyclic intermediates in the biosynthesis of porphyrins. Philos Trans R Soc Lond Ser B 273:191, 1976
13. de Verneuil H, Grandchamp B, Nordmann Y: Some kinetic properties of human red cell uroporphyrinogen decarboxylase. Biochim Biophys Acta 611:174, 1980
14. de Verneuil H, Sassa S, Kappas A: Purification and properties of uroporphyrinogen decarboxylase from human erythrocytes. A single enzyme catalyzing the four sequential decarboxylations of uroporphyrinogens I and III. J Biol Chem 268:2454, 1983
15. Romeo PH, Raich N, Dubart A, Beaupain D, Pryor M, Kushner J, Cohen-Solal M, Goossens M: Molecular cloning and nucleotide sequence of complete human uroporphyrinogen decarboxylase cDNA. J Biol Chem 261:9826, 1986
16. Romana M, Dubart A, Beaupain D, Chabret C, Goossens M, Romeo P: Structure of the gene for human uroporphyrinogen decarboxylase. Nucleic Acids Res 15:7343, 1987
17. de Verneuil H, Grandchamp B, Foubert C, Weil D, N'Guyen V, Gross MS, Sassa S, Nordmann Y: Assignment of the gene for uroporphyrinogen decarboxylase to human chromosome 1 by somatic cell hybridization and specific enzyme immunoassay. Hum Genet 66:202, 1984
18. Meguro K, Fujita H, Ishida N, Akagi R, Kurihara T, Galbraith R, Kappas A, Zabriskie J, Toback A, Harber L, Sassa S: Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphryia. J Invest Derm 102:682, 1994
19. de Verneuil H, Grandchamp B, Beaumont C, Picat C, Nordmann Y: Uroporphyrinogen decarboxylase structural mutant (Gly 281-→ Glu) in a case of porphyria. Science 234:732, 1986
20. de Verneuil H, Bourgeois F, de Rooij F, Siersema PD, Wilson JHP, Grandchamp B, Nordmann Y: Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria. Hum Genet 89:548, 1992
21. Garey JR, Hansen JL, Harrison LM, Kennedy JB, Kushner JP: A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial PCT. Blood 73:893, 1989
22. Garey JR, Harrison LM, Franklin KF, Metcalf KM, Radisky ES, Kushner JP: Uroporphyrinogen decarboxylase: A splice site mutation causes the deletion of exon 6 in multiple families with porphyia cutanea tarda. J Clin Invest 86:1416, 1990
23. McManus J, Blake D, Ratnaike S: An assay of uroporphyrinogen decarboxylase in erythrocytes. Clin Chem 24:2355, 1988
24. Alleman MA, Wilson JHP, vanden Berg JWO, Edixhoven-Bosdijk A, van Gastel-Quist: Familial porphyria cutanea tarda: The pattern of porphyrins formed from porphobilinogen by hemolysates. Clin Chem 28:1144, 1982
25. Laurell CB: Electroimmuno Assay. Scand J Lab Clin Invest 29:124, 21, 1972 (suppl)
26. Elder G, Sheppard DM, Tovey JA, Urquhart AJ: Immunoreactive uroporphyrinogen decarboxylase in porphyria cutanea tarda. Lancet 1:1301, 1983
27. Chin CS, Sassa S: 5-Aminolevulinate dehydratase in human erythroleukemia cells: An immunologically distinct enzyme. Blood 65:939, 1985
28. Chomczynski P, Sacchi N: Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156, 1987
29. Sambrook J, Fritsch EF, Maniatis T: Preparation of radiolabelled DNA and RNA probes, in Ford N, Nolan C, Ferguson M (eds): Molecular Cloning. A Laboratory Manual (ed 2). Cold Spring Harbor, NY, Cold Spring Harbor Laboratory, 1989
30. Saiki RF, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich A: Primer directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487, 1988
31. Kaledin AS, Sliusarenko AG, Gorodetskii SI: Vydelenie i svoistva DNK-polimerazy is ekstremal'no- termofil'noi bakterii Thermus Aquaticus YTI. Biokhimiia 45:644, 1980 (English abstr)
32. Sanger F, Nicklen S, Coulson AR: DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74:5463, 1977
33. McManus J, Begley C, Ratnaike S: Complex pattern of alternative splicing in the normal uroporphyrinogen decarboxylase gene: Implications for diagnosis of familial porphyria cutanea tarda. Clin Chem 40:1884, 1994
34. Elder GH: Molecular genetics of disorders of haem biosynthesis. J Clin Pathol 46:977, 1993
35. Cooper D, Youssoufian H: The CpG dinucleotide and human genetic disease. Hum Genet 78:151, 1988
36. Coulondre C, Miller JH, Farabaugh PJ, Gilbert W: Molecular basis of base substitution hotspots in Escherichia coli. Nature 274:775, 1978
37. Wang RY-H, Kuo KC, Gehrke CW, Huang L-H, Ehrich M: Heat and alkali-induced deamination of 5-methylcytosine and cytosine residues in DNA. Biochim Biophys Acta 697:371, 1982
38. Benzer S: On the frequency of the genetic fine structure. Proc Natl Acad Sci USA 47:403, 1961
39. Krawczak M, Cooper D: Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 8:426, 1991
40. Ripley L: Model for the participation of quasi-palindromic DNA sequences in frameshift mutation. Proc Natl Acad Sci USA 79:4128, 1982
41. Kunkel T: The mutational specificity of DNA polymerases alpha and gamma during in vitro DNA synthesis. J Biol Chem 260:12866, 1985
42. Nishimura K, Nakayashiki T, Inokuchi H: Cloning and sequencing of the hem E gene encoding the uroporphyrinogen III decarboxylase (UPD) from Escherichia coli K-12. Gene 133:109, 1993