Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia

Clinical Chemistry

Volumn 45, Issue 12, 1999, Pages 2102-2108

  Romstad, Anne ^a   Guldberg, Per ^a   Blau, Nenad ^b   Güttler, Flemming ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

DYSPROPTERIN; SYNTHETASE;

ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; ENZYME DEFICIENCY; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPERPHENYLALANINEMIA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0032710408     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/45.12.2102     Document Type: Article

References (33)

1. 1. Kaufman S. Phenylketonuria and its variants [Review]. Adv Hum Genet 1983;13:217-97.
2. 2. Scriver CR, Kaufman S, Eisensmith RC, Woo SLC. The hyperphenylalaninemias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, 7th ed. New York: McGraw-Hill, 1995:1015-75.
3. 3. Nagatsu T, Ichinose H. Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin [Review]. Mol Neurobiol 1999; 19:79-96.
4. 4. Blau N, Dhondt J. International database of tetrahydrobiopterin deficiencies. http://www.unizh.ch/~blau/biodef1.html (accessed July 1999).
5. 5. Blau N, Blaskovics M. Hyperphenylalaninemias. In: Blau N, Duran M, Blaskovics M, ed. Physician's guide to the laboratory diagnosis of metabolic diseases, 1st ed. Oxford: Chapman & Hall, 1996: 65-78.
6. 6. Güttler F, Lou H, Lykkelund C, Niederwieser A. Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis. Eur J Pediatr 1984;142:126-9.
7. 7. Blau N, Kierat L, Matasovic A, Leimbacher W, Heizmann CW, Guardamagna O, Ponzone A. Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue. Clin Chim Acta 1994;226:159-69.
8. 8. Blau N, Thöny B, Heizmann CW, Dhondt JL. Tetrahydrobiopterin deficiency: from phenotype to genotype [Review]. Pteridines 1993; 4:1-10.
9. 9. Blau N, Thöny B, Spada M, Ponzone A. Tetrahydrobiopterin and inherited hyperphenylalaninemias [Review]. Turk J Pediatr 1996; 38:19-35.
10. 10. Scherer-Oppliger T, Matasovic A, Laufs S, Levy HL, Quackenbush EJ, Blau N, Thöny B. Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia. Hum Mutat 1999;13:286-9.
11. 11. Ponzone A, Blau N, Guardamagna O, Ferrero GB, Dianzani I, Endres W. Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype. J Inherit Metab Dis 1990;13:298-300.
12. 12. Thöny B, Leimbacher W, Bürgisser D, Heizmann CW. Human 6-pyruvoyltetrahydropterin synthase. cDNA cloning and heterologous expression of the recombinant enzyme. Biochem Biophys Res Commun 1992;189:1437-43.
13. 13. Kluge C, Brecevic L, Heizmann CW, Blau N, Thöny B. Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase. Eur J Biochem 1996;240:477-87.
14. 14. Thöny B, Heizmann CW, Mattei MG. Chromosomal location of two human genes encoding tetrahydrobiopterin-metabolizing enzymes: 6-pyruvoyl-tetrahydropterin synthase maps to 11q22.3-q23.3, and pterin-4α-carbinolamine dehydratase maps to 10q22. Genomics 1994;19:365-8.
15. 15. Bürgisser DM, Thöny B, Redweik U, Hess D, Heizmann CW, Huber R, Nar H. 6-Pyruvoyl tetrahydropterin synthase, an enzyme with a novel type of active site involving both zinc binding and an intersubunit catalytic triad motif; site-directed mutagenesis of the proposed active center, characterization of the metal binding site and modelling of substrate binding. J Mol Biol 1995:253: 358-69.
16. 16. Shintaku H, Niederwieser A, Leimbacher W, Curtius HC. Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers. Eur J Pediatr 1988;147:15-9.
17. 17. Grimberg J, Nawoschik S, Belluscio L, McKee R, Turck A, Eisenberg A. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res 1989; 17:8390.
18. 18. Rychlik W, Rhoads RE. A computer program for choosing optimal oligonucleotides for filter hybridization, sequencing and in vitro amplification of DNA. Nucleic Acids Res 1989;17:8543-51.
19. 19. Lerman LS, Silverstein K. Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis. Methods Enzymol 1987;155:482-501.
20. 20. Abrams ES, Stanton VP. Use of denaturing gradient gel electrophoresis to study conformational transitions in nucleic acids. Methods Enzymol 1992;212:71-104.
21. 21. Sheffield VC, Cox DR, Lerman LS, Myers RM. Attachment of a 40-base-pair G+C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc Natl Acad Sci U S A 1989;86:232-6.
22. 22. Myers RM, Maniatis T, Lerman LS. Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol 1987;155:501-27.
23. 23. Odelberg SJ, Weiss RB, Hata A, White R. Template-switching during DNA synthesis by Thermus aquaticus DNA polymerase I. Nucleic Acids Res 1995;23:2049-57.
24. 24. Levinson G, Gutman GA. Slipped-strand mispairing: a major mechanism for DNA sequence evolution [Review]. Mol Biol Evol 1987;4:203-21.
25. 25. Meyerhans A, Vartanian JP, Wain-Hobson S. DNA recombination during PCR. Nucleic Acids Res 1990;18:1687-91.
26. n microsatellite repeats. Nucleic Acids Res 1996;24:2429-34.
27. 27. Oppliger T, Thöny B, Leimbacher W, Schreibenreiter S, Brandt NJ, Heizmann CW, Blau N. Mutation analysis in patients with 6-pyruvoyl-tetrahydropterin synthase deficiency. Pteridines 1995; 6:141-3.
28. 28. Oppliger T, Thöny B, Nar H, Bürgisser D, Huber R, Heizmann CW, Blau N. Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninaemia in humans. J Biol Chem 1995;270:29498-506.
29. 29. Oppliger T, Thöny B, Kluge C, Matasovic A, Heizmann CW, Ponzone A, et al. Identification of mutations causing 6-pyruvoyltetrahydropterin synthase deficiency in four Italian families. Hum Mutat 1997;10:25-35.
30. 30. Niederwieser A, Shintaku H, Leimbacher W, Curtius HC, Hyànek J, Zeman J, Endres W. "Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity. Eur J Pediatr 1987;146:228-32.
31. 31. Blau N, Thöny B, Dianzani I. Database of mutations causing tetrahydrobiopterin deficiencies. http://www.unizh.ch/~blau/ biomdb1.html (accessed July 1999).
32. 32. Thöny B, Blau N. Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes [Review]. Hum Mutat 1997;10:11-20.
33. 33. Liu TT, Hsiao KJ, Lu SJ, Wu SJ, Wu KF, Chiang SH, et al. Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. Hum Mutat 1998;11:76-83.