Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria

Human Genetics

Volumn 102, Issue 5, 1998, Pages 541-548

  Mustajoki, Sami ^a   Pihlaja, Hannele ^a   Ahola, Helena ^a   Petersen, Niels Erik ^b   Mustajoki, Pertti ^a   Kauppinen, Raili ^a  

^a HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^b ODENSE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA DETERMINATION; DNA SEQUENCE; EXON; FRAMESHIFT MUTATION; GENE INSERTION SEQUENCE; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; INTRON; MISSENSE MUTATION; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

DNA MUTATIONAL ANALYSIS; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; MUTATION; PORPHYRIA, ACUTE INTERMITTENT;

EID: 0031798920     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050737     Document Type: Article

References (53)

1. Andersen PM, Reddy RM, Andersen KE, Desnick RJ (1981) Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. J Clin Invest 68:1-12
2. Beaumont C, Porcher C, Picat C, Nordmann Y, Grandchamp B (1989) The mouse porphobilinogen deaminase gene. J Biol Chem 264:14829-14834
3. Brownlie PD, Lambert R, Louie GV, Jordan PM, Blundell TM, Warren MJ, Cooper JB, Wood SP (1994) The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria. Protein Sci 3:1644-1650
4. Chapelle A de la (1993) Disease gene mapping in isolated human populations: the example of Finland, J Med Genet 30:857-865
5. Chen C-H, Astrin KH, Lee G, Anderson KE, Desnick RJ (1994) Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. J Clin Invest 94:1927-1937
6. Chirgwin JM, Przbyla AE, McDonald RJ, Rutter WJ (1979) Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry 18:5294-5299
7. Chretien S, Dubart A, Beaupain D, Raich N, Grandchamp B, Rosa J, Goossens M, Romeo PH (1988) Alternative transcription and splicing of the human porphobilinogen deaminase results either in tissue-specific or in house-keeping expression. Proc Natl Acad Sci USA 85:6-9
8. Daimon M, Yamatani K, Igarashi M, Fukase N, Morita Y, Ogawa A, Tominaga M, Sasaki H (1993) Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping. Hum Genet 92:549-553
9. Daimon M, Yamatani K, Igarashi M, Fukase N, Morita Y, Ogawa A, Tominaga M, Sasaki H (1994) Acute intermittent porphyria caused by a single base insertion of C in exon 15 of the porphobilinogen deaminase gene that results in a frame shift and premature stopping of translation. Hum Genet 93:533-537
10. Deybach J-C, Puy H (1995) Porphobilinogen deaminase gene structure and molecular defects. J Bioenerg Biomembr 27:197-205
11. Ford RE, Ou C-N, Ellefson RD (1980) Assay of erythrocyte uroporphyrinogen I synthase activity, with porphobilinogen as substrate. Clin Chem 26:1182-1185
12. Grandchamp B, Romeo PH, Dubert A, Raich N, Rosa J, Nordmann Y, Goossens M (1984) Molecular cloning of a cDNA sequence complementary to porphobilinogen deaminase mRNA from rat. Proc Natl Acad Sci USA 81:5036-5040
13. Grandchamp B, Verneuil H de, Beaumont C, Chretien S, Walter O, Nordmann Y (1987) Tissue-specific expression of porphobilinogen deaminase: two isoenzymes from a single gene. Eur J Biochem 162:105-110
14. Higuchi R (1989) Simple and rapid preparation of samples for PCR. In: Ehrlich HA (ed) PCR technology. Principles and applications for DNA amplification. Stockton Press, New York, pp 31-38
15. Jordan PM, Woodcock SC (1991) Mutagenesis of arginine residues in the catalytic cleft of Eschericia coli porphobilinogen deaminase that affects dipyrromethane cofactor assembly and tetrapyrrole chain initiation and elongation. Biochem J 280:445-449
16. Kappas A, Sassa S, Galbraith RA, Nordmann Y (1995) In: Scriver CR, Beaudet A, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited diseases (7th edn). McGraw-Hill, New York, pp 2116-2127
17. Kauppinen R, Mustajoki P (1992) Prognosis of acute intermittent porphyria: occurrence of acute attacks, precipitating factors and associated disease. Medicine 71:1-13
18. Kauppinen R, Mustajoki S, Pihlaja H, Peltonen L, Mustajoki P (1995) Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene. Hum Mol Genet 4:215-222
19. Keng TC, Richard C, Larocque R (1992) Structure and regulation of yeast HEM3, the gene for porphobilinogen deaminase. Mol Gen Genet 234:233-243
20. Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54
21. Lee J (1991) Molecular genetic investigation of the human porphobilinogen deaminase gene in acute intermittent porphyria. PhD thesis, Karolinska Institutet, Stockholm, Sweden
22. Lee GY, Astrin KH, Desnick RJ (1994) Acute intermittent porphyria: a single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide. Am J Med Genet 58:155-158
23. Llewellyn DH, Scobie GA, Urquhart AJ, Whatley SD, Roberts AG, Harrison PR, Elder GH (1996) Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at -22 bp from the 5′ splice site causes skipping of exon 3. J Med Genet 33:437-438
24. Louie GV, Brownlie PD, Lambert R, Cooper JB, Blundell TL, Wood SP, Warren MJ, Woodcock SC, Jordan PM (1992) Structure of porphobilinogen deaminase reveals a flexible multidomain polymerase with a single catalytic site. Nature 359:33-39
25. Lundin G, Wedell A, Thunell S, Anvret M (1994) Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles. Hum Genet 93:59-62
26. Lundin G, Hashemi J, Floderus Y, Thunell S, Sagen E, Lægreid A, Wassif W, Peters T, Anvret M (1995) Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria. J Med Genet 32:979-981
27. Lundin G, Lee JS, Thunell S, Anvret M (1997) Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families. Hum Genet 100:63-66
28. Mauzerall D, Granick S (1956) The occurrence and determination of delta-aminolevulinic acid and porphobilinogen in urine. J Biol Chem 219:435-436
29. Meyer UA, Strand LJ, Doss M, Rees C, Marver HS (1972) Intermittent acute porphyria - demonstration of genetic defect in porphobilinogen metabolism. N Engl J Med 286:1277-1282
30. Mgone C, Lanyon W, Moore M, Connor J (1992) Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA. Hum Genet 90:12-16
31. Mgone C, Lanyon W, Moore M, Louie G, Connor J (1993) Detection of high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria. Hum Genet 92:619-622
32. Mgone C, Lanyon W, Moore M, Louie G, Connor J (1994) Identification of five novel mutations in the porphobilinogen deaminase gene. Hum Mol Genet 3:809-811
33. Mohr CD, Stonsteby SK, Deretic V (1994) The Pseudomonas aeruginosa homologs of hemC and hemD are linked to the gene encoding the regulator of mucoidy AlgR. Mol Gen Genet 242:177-184
34. Mullis KB, Faloona F (1987) Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction. Methods Enzymol 155:335-350
35. Mustajoki P (1981) Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria. Ann Intern Med 95:162-166
36. Mustajoki P, Desnick RJ (1985) Genetic heterogeneity in acute intermittent porphyria: characterization and frequency of porphobilinogen deaminase in Finland. BMJ 291:505-509
37. Nakai K, Sakamoto H (1994) Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene 141:171-177
38. Namba H, Narahara K, Tsuji K, Yokoyama Y, Seino Y (1991) Assignment of human porphobilinogen deaminase to 11q24.1-q24.2 by in situ hybridization and gene dosage studies. Cytogenet Cell Genet 57:105-108
39. Nissen H, Petersen NE, Mustajoki S, Hansen TS, Mustajoki P, Kauppinen R, Hørder M (1997) Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis. Hum Mutat 9:122-130
40. Niwa M, MacDonald CC, Berget SM (1992) Are vertebrate exons scanned during splice-site selection? Nature 360:277-280
41. Ong PM, Lanyon WG, Hift RJ, Halkett J, Moore MR, Mgone CS, Connor JM (1996) Detection of four mutations in six unrelated patients with acute intermittent porphyria. Mol Cell Probes 10:57-61
42. Petricek M, Rutberg L, Schroder I, Hederstedt L (1990) Cloning and characterization of the hemA region of the Bacillus subtilis chromosome. J Bacteriol 172:2250-2258
43. Puy H, Deybach J-C, Lamoril J, Robreau AM, Da Silva V, Gouya L, Grandchamp B, Nordmann Y (1997) Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria. Am J Hum Genet 60:1373-1383
44. Raich N, Romeo PH, Dubart A, Beaupain D, Cohen-Solal M, Goossens M (1986) Molecular cloning and complete primary sequence of human erythrocyte PBG deaminase. Nucleic Acids Res 14:5955-5968
45. Rosipal R, Puy H, Lamoril J, Martasek P, Nordmann Y, Deybach JC (1997) Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin. Scand J Clin Lab Invest 57:217-224
46. Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-termination inhibitors. Proc Natl A cad Sci USA 74:5463-5467
47. Schreiber W, Fong F, Jamani A (1994a) Frameshift mutations in exons 9 and 10 of the porphobilinogen deaminase gene produce a cross reacting immunological material (CRIM)-negative form of acute intermittent porphyria. Hum Genet 93:552-556
48. Schreiber WE, Fong F, Jamani A (1994b) Molecular diagnosis of acute intermittent porphyria by analysis of DNA extracted from hair roots. Clin Chem 40:1744-1748
49. Schreiber WE, Jamani A, Armstrong JG (1995a) Acute intermittent porphyria in a native North American family. Biochemical and molecular analysis. Am J Clin Pathol 103:730-734
50. Schreiber WE, Fong F, Nassar BA, Jamani A (1995b) Heteroduplex analysis detects frameshift and point mutations in patients with acute intermittent porphyria. Hum Genet 96:161-166
51. Scobie G, Llewellyn D, Urquhart A, Smyth S, Kalsheker N, Harrison P, Elder G (1990) Acute intermittent porphyria caused by a C T mutation that produces a stop codon in the porphobilinogen deaminase gene. Hum Genet 85:631-634
52. Shoolingin-Jordan PM (1995) Porphobilinogen deaminase and uroporphyrinogen III synthase: structure, molecular biology, and mechanism. J Bioenerg Biomembr 27:181-195
53. Thomas SD, Jordan PM (1986) Nucleotide sequence of the hemC locus encoding porphobilinogen deaminase of Escherichia coli K12. Nucleic Acids Res 14:6215-6226