Dihydropyrimidine dehydrogenase (DPD) deficiency: Identification and expression of missense mutations C29R, R886H and R235W

Human Genetics

Volumn 101, Issue 3, 1997, Pages 333-338

  Vreken, P ^a   Van Kuilenburg, A B P ^a   Meinsma, R ^a   Van Gennip, A H ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPYRIMIDINE DEHYDROGENASE; FLUOROURACIL; MUTANT PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CANCER PATIENT; CASE REPORT; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ESCHERICHIA COLI; FRAMESHIFT MUTATION; GENE EXPRESSION SYSTEM; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; ANTIMETABOLITES, ANTINEOPLASTIC; CLONING, MOLECULAR; DIHYDROURACIL DEHYDROGENASE (NADP); DNA, COMPLEMENTARY; ESCHERICHIA COLI; FEMALE; FLUOROURACIL; HETEROZYGOTE; HUMANS; MALE; MUTATION; OXIDOREDUCTASES; POLYMERASE CHAIN REACTION; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; RECOMBINANT PROTEINS; SEIZURES; SEQUENCE ANALYSIS, DNA;

ESCHERICHIA COLI;

EID: 0031462149     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050637     Document Type: Article

References (29)

1. Berger R, Stoker-de Vries SA, Wadman SK, Duran M, Beemer FA, Bree PK de (1984) Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism. Clin Chim Acta 141:227-234
2. Braakhekke JP, Renier WO, Gabreëls FJM, Abreu RA De, Bakkeren JAJM, Sengers RCA (1987) Dihydropyrimidine dehydrogenase deficiency; neurological aspects. J Neurol Sci 78:71-77
3. Chomczynski P, Sacchi N (1987) Single step method of RNA isolation by acid guanidium thioeyanate-phenol-chloroform extraction. Anal Biochem 162:156-159
4. Diasio RB, Beavers TL, Carpenter JT (1988) Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil induced toxicity. J Clin Invest 81:47-51
5. Fernandez-Salguero PM, Sapone A, Wei X, Holt JR, Jones S, Idle JR, Gonzalez FJ (1997) Lack of correlation between phenorype and genotype for the polymorphically expressed dihydropyrimidine dehydrogenase in a family of Pakistani origin. Pharmacogenetics 7:161-163
6. Gennip AH Van, Bakker HD, Zoetekouw A, Abeling NGGM (1987) A new case of thymine-uraciluria. Klin Woechenschr 65:(suppl X) 14
7. Gennip AH Van, Abeling NGGM, Elzinga-Zoetekouw L, Scholten LG, Cruchten A van, Bakker HD (1989) Comparative study of thymine and uracil metabolism in healthy persons and in a patient with dihydropyrimidine dehydrogenase deficiency. Adv Exp Med Biol 253A:111-118
8. Gennip AH Van, Abeling NGGM, Stroomer AEM, Lenthe H van, Bakker HD (1994) Clinical and biochemical findings in six patients with pyrimidine degradation defects. J Inherit Metab Dis 17:130-132
9. Gennip AH Van, Lenthe H Van, Abeling NGGM, Bakker HD, Kuilenburg ABP Van (1995) Combined deficiencies of NADPH-and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluria. J Inherit Metab Dis 18:185-188
10. Gennip AH Van, Abeling NGGM, Vreken P, Kuilenburg ABP van (1997a) Genetic metabolic disease of pyrimidine metabolism: implications for diagnosis and treatment. Int Pediatr 12:28-33
11. Gennip AH Van, Abeling NGGM, Vreken P, Kuilenburg ABP van (1997b) Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects. J Inherit Metab Dis 20:203-213
12. Harris BE, Carpenter JT, Diasio RB (1991) Severe fluorouracil toxicity secondary to dihydropyrimidine dehydrogenase deficiency. A potentially more common pharmacogenetic syndrome. Cancer Res 68:499-501
13. Hoar DI (1987) Molecular diagnosis: new horizons in medicine. Can Fam Physician 33:401-404
14. Johnson MR, Kangshang W, Tillmans S, Albin N, Diasio RB (1997) Structural organization of the human dihydropyrimidine dehydrogenase gene. Cancer Res 57:1660-1663
15. Kuilenburg ABP Van, Lenthe H van, Gennip AH van (1996) Identification of a NADH-dependent activity of dihydropyrimidine dehydrogenase in man. Anticancer Res 16:389-394
16. Kuilenburg ABP Van, Vreken P, Beex LVAM van, Meinsma R, Lenthe L van, Abreu RA De, Gennip AH van (1997) Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity. Eur J Cancer: in press
17. Lu Z-H, Zhang R, Diasio RB (1993) Comparison of dihydropyrimidine dehydrogenase from human, rat, pig and cow liver. Biochem Pharmacol 46:945-952
18. Lu Z-H, Zhang R, Diasio RB (1995) Population characteristics of hepatic dihydropyrimidine dehydrogenase activity, a key metabolic enzyme in 5-fluorouracil chemotherapy. Clin Pharmacol Ther 58:512-522
19. McMurrough G, McLeod HL (1996) Analysis of the dihydropyrimidine dehydrogenase polymorphism in the Brittish population. Br J Clin Pharmacol 41:425-427
20. Maniatis T, Fritsch EF, Sambrook J (1982) Molecular cloning, a laboratory manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
21. Meinsma R, Fernandez-Salguero P, Kuilenburg ABP van, Gennip AH van, Gonzalez FJ (1995) Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uraciluria. DNA Cell Biol 14:1-6
22. Smith RF, Wiese BA, Wojzynski MK, Davison DB, Worley KG (1996) BCM search launcher - an integrated interface to molecular biology database search and analysis services on the world wide web. Genome Res 6:454-462
23. Takai S, Fernandez-Slaguero P, Kimura S, Gonzalez FJ, Yamada K (1994) Assignment of the human dihydropyrimidine dehydrogenase gene (DYPD) to chromosome region 1p22 by fluorescence in situ hydridisation. Genomics 24:613-614
24. Vreken P, Kuilenburg ABP van, Meinsma R, Smit GPA, Bakker HD, Abreu RA De, Gennip AH van (1996a) A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency. J Inherit Metab Dis 19:645-654
25. Vreken P, Kuilenburg ABP van, Meinsma R, Gennip AH van (1996b) Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene. J Inherit Metab Dis 19: suppl 1:8
26. Vreken P, Kuilenburg ABP van, Meinsma R, Gennip AH van (1997a) Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene. J Inherit Metab Dis 20:335-338
27. 296-299) in the dihydropyrimidine dehydrogenase gene with variable clinical expression. Hum Gen 100:263-265
28. Wei XX, Mcleod HL, Mcmurrough J, Gonzalez FJ, Fernan-dezsalguero P (1996) Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity. J Clin Invest 98:610-615
29. Yokota H, Fernandez-Salguero P, Furuya H, Lin K, McBride OW, Podschun B (1994) cDNA cloning and chromosome mapping of human dihydropyrimidine dehydrogenase, an enzyme associated with 5-fluorouracil toxicity and congenital thymine uraciluria. J Biol Chem 269:23192-23196