Structural heterogeneity at the UDP-glucuronosyltransferase 1 locus: Functional consequences of three novel missense mutations in the human UGT1A7 gene

Pharmacogenetics

Volumn 10, Issue 7, 2000, Pages 629-644

  Guillemette, C ^a   Ritter, J K ^a   Auyeung, D J ^a   Kessler, F K ^a   Housman, D E ^a  

^a UNIVERSITÉ LAVAL   (Canada)

Author keywords

Benzopyrene; Drug metabolism; Genetic polymorphism; Glucuronidation; UGT1A7

Indexed keywords

3 HYDROXYBENZO[A]PYRENE; 7 HYDROXYBENZO[A]PYRENE; 9 HYDROXYBENZO[A]PYRENE; BENZO[A]PYRENE DERIVATIVE; GLUCURONOSYLTRANSFERASE; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME KINETICS; ENZYME POLYMORPHISM; ENZYME SPECIFICITY; EXON; FAMILY STUDY; FEMALE; GENE LOCUS; GENETIC VARIABILITY; GLUCURONIDATION; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; TOXICOKINETICS;

BASE SEQUENCE; CELL LINE, TRANSFORMED; DNA PRIMERS; FEMALE; GENOTYPE; GLUCURONOSYLTRANSFERASE; HUMAN; KINETICS; MALE; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; SUPPORT, NON-U.S. GOV'T;

EID: 0033789766     PISSN: 0960314X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008571-200010000-00006     Document Type: Article

References (44)

1. Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin dose requirement and risk of bleeding complications
2. Characterization and regulation of UDP-glucuronosyltransferases in steroid target tissues
3. Common nonsense mutations in RAD52
4. Racial variability in the UDP-glucuronosyltransferase 1 promoter: A balanced polymorphism for regulation of bilirubin metabolism
5. Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type 1
6. Genetic inheritance of Gilbert's syndrome
7. Characterization of single-nucleotide polymorphisms in coding regions of human genes
8. Prevention of pre-PCR mis-priming and primer dimerization improves low-copy-number amplifications
9. Genetic polymorphism in the human UGT1A6 UDP-glucuronosyltransferase: Pharmacological implications
10. Glucuronidation of 7-ethyl-10-hydroxycamptothecin (SN-38) by the human UDP-glucuronosyltransferases encoded at the UGT1 locus
11. The glucuronidation of opioids, other xenobiotics, and androgens by human UGT2B7Y (268) and UGT2B7H (268)
12. The role of carcinogen-metabolizing enzyme polymorphisms in cancer susceptibility
13. Identification of a rat oltipraz-inducible UDP-glucuronosyltransferase (UGT1A7) with activity towards benzo(a)pyrene-7,8-dihydrodiol
14. Genetic polymorphisms in UGT1A1 and association with breast cancer among African Americans
15. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis
16. Characterization of UDP-glucuronosyltransferases active on steroid hormones
17. Functional consequences of polymorphism of xenobiotic metabolising enzymes
18. Inherited variations in drug-metabolizing enzymes: Significance in clinical oncology
19. Interethnic variation of drug metabolism
20. Genoprotection by UDP-glucuronosyltransferases in peroxidase-dependent, reactive oxygen species-mediated micronucleus initiation by the carcinogens 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone and benzo[a]-pyrene
21. UDP-glucuronosyltransferase-mediated protection against in vitro DNA oxidation and micronucleus formation initiated by phenytoin and its embryotoxic metabolite 5-(p-hydroxyphenyl)-5-phenylhydantoin
22. Isolation and characterization of UGT2B15 (Y85): A UDP-glucuronosyltransferase encoded by a polymorphic gene
23. Characterization and substrate specificity of UGT2B4 (E458): A UDP-glucuronosyltransferase encoded by a polymorphic gene
24. The UDP glycosyltransferase gene super-family: Recommended nomenclature update based on evolutionary divergence
25. Characterization of two UDP glucuronosyltransferases that are predominantly expressed in human colon
26. Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome
27. Genetic epidemiology of environmental toxicity and cancer susceptibility: Human allelic polymorphisms in drug-metabolizing enzyme genes, their functional importance, and nomenclature issues
28. Gene structure at the human UGT1 locus creates diversity in isozymes structure, substrate specificity, and regulation
29. Variability of acetaminophen metabolism in Caucasians and Orientals
30. Purification and characterization of a catalytically active human liver UDP-glucuronosyltransferase expressed as a fusion protein in E. coli
31. Expression and inducibility of the human bilirubin UDP-glucuronosyltransferase UGT1A1 in liver and cultured primary hepatocytes: Evidence for both genetic and environmental influences
32. Two human liver cDNAs encode UDP-glucuronosyltransferases with 2 log differences in activity toward parallel substrates including hyodeoxycholic acid and certain estrogen derivatives
33. A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini
34. A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP- glucuronosyltransferase
35. Pharmacokinetic interrelationships of irinotecan (CPT-11) and its three major plasma metabolites in patients enrolled in phase I/II trials
36. Measurement of protein using bicinchoninic acid
37. Differential down-regulation of the UDP-glucuronosyltransferase 1A locus is an early event in human liver and biliary cancer
38. Differential expression of the UGT1A locus in human liver, biliary, and gastric tissue: Identification of UGT1A7 and UGT1A10 transcripts in extrahepatic tissue
39. Expression of the UDP-glucuronosyltransferase 1A locus in human colon
40. Drug metabolism polymorphisms as modulators of cancer susceptibility
41. Potential genoprotective role for UDP-glucuronosyltransferases in chemical carcinogenesis: Initiation of micronuclei by benzo(a)pyrene and benzo(e)pyrene in UDP-glucuronosyltransferase-deficient cultured rat skin fibroblasts
42. Carbon nanotube based DNA sequence determination and haplotyping in kilobase-size fragments
43. Interindividual and interethnic differences in the demethylation and glucuronidation of codeine