The genetic basis of the reduced expression of bilirubin udp-glucuronosyltransferase 1 in gilbert's syndrome

New England Journal of Medicine

Volumn 333, Issue 18, 1995, Pages 1171-1175

  Bosma, Piter J ^a   Chowdhury, Jayanta Roy ^a   Bakker, Conny ^a   Gantla, Shailaja ^a   de Boer, Anita ^a   Oostra, Ben A ^a   Lindhout, Dick ^a   Tytgat, Guido N j ^a   Jansen, Peter L m ^a   Elferink, Ronald P j Oude ^a   Chowdhury, Namita Roy ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

BILIRUBIN; GLUCURONOSYLTRANSFERASE;

ADOLESCENT; ADULT; ARTICLE; BILIRUBIN METABOLISM; CLINICAL ARTICLE; CONTROLLED STUDY; CRIGLER NAJJAR SYNDROME; DNA SEQUENCE; ENZYME SYNTHESIS; FEMALE; GENE EXPRESSION REGULATION; GILBERT DISEASE; GLUCURONIDATION; HETEROZYGOSITY; HUMAN; MALE; PRIORITY JOURNAL; PROMOTER REGION;

ADOLESCENT; ADULT; BASE SEQUENCE; CASE-CONTROL STUDIES; CRIGLER-NAJJAR SYNDROME; FEMALE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GILBERT DISEASE; GLUCURONOSYLTRANSFERASE; HOMOZYGOTE; HUMAN; MALE; MIDDLE AGE; MOLECULAR SEQUENCE DATA; MUTATION; SUPPORT, U.S. GOV'T, P.H.S.; TATA BOX;

EID: 0028867826     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJM199511023331802     Document Type: Article

References (44)

1. Gilbert A, Lereboullet P La cholémie simple familiale. Semaine Med 1901; 21: 241-243
2. Chowdhury JR, Chowdhury NR, Wolkoff AW, Arias JM. Heme and bile pigment metabolism. In: Arias IM, Boyer JL, Fausto N, Jakoby WB, Schachter DA, Schafritz DA, eds. The liver: biology and pathobiology. 3rd ed. New York: Raven Press, 1994:471-504.
3. Thompson RPH. Genetic transmission of Gilbert's syndrome. In: Okolicsanyi L, ed. Familial hyperbilirubinemia. New York: John Wiley, 1981:91-7.
4. Powell LW, Hemingway E, Billing BH, Sherlock S Idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome): a study of 42 families. N Engl J Med 1967; 277: 1108-1112
5. Owens IS, Ritter JK The novel bilirubin/phenol UDP-glucuronosyltransferase UGT1 gene locus: implications for multiple nonhemolytic familial hyperbilirubinemia phenotypes. Pharmacogenetics 1992; 2: 93-108
6. Owens D, Evans J Population studies on Gilbert's syndrome. J Med Genet 1975; 12: 152-156
7. Bailey A, Robinson D, Dawson AM Does Gilbert's disease exist? Lancet 1977; 1: 931-933
8. Sieg A, Arab L, Schlierf G, Stiehl A, Kommerell B Die Prä valenz des Gilbert-Syndroms in Deutschland. Dtsch Med Wochenschr 1987; 112: 1206-1208
9. Arias IM, London IM Bilirubin glucuronide formation in vitro: demonstration of a defect in Gilbert's disease. Science 1957; 126: 563-564
10. Black M, Billing BH Hepatic bilirubin UDP-glucuronyl transferase activity in liver disease and Gilbert's syndrome. N Engl J Med 1969; 280: 1266-1271
11. Fevery J, Blanckaert N, Heirwegh KPM, Preaux A-M, Berthelot P Unconjugated bilirubin and an increased proportion of bilirubin monoconjugates in the bile of patients with Gilbert's syndrome and Crigler-Najjar disease. J Clin Invest 1977; 60: 970-979
12. Ritter JK, Crawford JM, Owens IS Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells. J Biol Chem 1991; 266: 1043-1047
13. Ritter JK, Chen F, Sheen YY, A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini. J Biol Chem 1992; 267: 3257-3261
14. Bosma PJ, Seppen J, Goldhoorn B, Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man. J Biol Chem 1994; 269: 17960-17964 [Erratum, J Biol Chem 1994;269(41):2542.]
15. Bosma PJ, Chowdhury NR, Goldhoorn BG, Sequence of exons and the flanking regions of human bilirubin-UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome, type I. Hepatology 1992; 15: 941-947
16. Bosma PJ, Chowdhury JR, Huang TJ, Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I. FASEB J 1992; 6: 2859-2863
17. Ritter JK, Yeatman MT, Ferreira P, Owens IS Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient. J Clin Invest 1992; 90: 150-155
18. Moghrabi N, Clarke DJ, Burchell B, Boxer M Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis. Am J Hum Genet 1993; 53: 722-729
19. Ritter JK, Yeatman MT, Kaiser C, Gridelli B, Owens IS A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase. J Biol Chem 1993; 268: 23573-23579
20. Labrune P, Myara A, Hadchouel M, Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases. Hepatology 1993; 18: 126A-126A abstract.
21. Erps LT, Ritter JK, Hersh JH, Blossom D, Martin NC, Owens IS Identification of the two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro. J Clin Invest 1994; 93: 564-570
22. Bosma PJ, Goldhoorn B, Oude Elferink RP, Sinaasappel M, Oostra BA, Jansen PLM A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. Gastroenterology 1993; 105: 216-220
23. Moghrabi N, Clarke DJ, Boxer M, Burchell B Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2. Genomics 1993; 18: 171-173
24. Seppen J, Bosma PJ, Goldhoorn BG, Discrimination between Crigler-Najjar syndrome type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase. J Clin Invest 1994; 94: 2385-2391
25. Arias IM, Gartner LM, Cohen M, Ezzer JB, Levi AJ Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronosyltransferase deficiency: clinical, biochemical, pharmacologic and genetic evidence for heterogeneity. Am J Med 1969; 47: 395-409
26. Hunter JO, Thompson RPH, Dunn PM, Williams R Inheritance of type 2 Crigler-Najjar hyperbilirubinemia. Gut 1973; 14: 46-49
27. Maniatis T, Goodbourn S, Fischer JA Regulation of inducible and tissue-specific gene expression. Science 1987; 236: 1237-1245
28. Saltzman AG, Weinmann R Promoter specificity and modulation of RNA polymerase II transcription. FASEB J 1989; 3: 1723-1733
29. Greenblatt J Roles of TFIID in transcriptional initiation by RNA polymerase II. Cell 1991; 66: 1067-1070
30. Grosveld GC, de Boer E, Shewmaker CK, Flavell RA DNA sequences necessary for transcription of the rabbit beta-globin gene in vivo. Nature 1982; 295: 120-126
31. Dierks P, van Ooyen A, Cochran MD, Dobkin C, Reiser J, Weissmann C Three regions upstream from the cap site are required for efficient and accurate transcription of the rabbit beta-globin gene in mouse 3T6 cells. Cell 1983; 32: 695-706
32. Spivak W, Carey MC Reverse-phase h.p.l.c. separation, quantification and preparation of bilirubin and its conjugates from native bile: quantitative analysis of the intact tetrapyrroles based on h.p.l.c. of their ethyl anthranilate azo derivatives. Biochem J 1985; 225: 787-805
33. Billing BH, Williams R, Richards TG Defects in hepatic transport of bilirubin in congenital hyperbilirubinaemia: an analysis of plasma bilirubin disappearance curves. Clin Sci 1964; 27: 245-257
34. Jendrassik L, Grof P Vereinfachte photometrische Methoden zur Bestimmung des Blutbilirubins. Biochem Z 1938; 297: 81-89
35. Bradford MM A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 1976; 72: 248-254
36. Platt T, Müller-Hill B, Miller JH. Assay of β-galactosidase. In: Miller JH, ed. Experiments in molecular genetics. Cold Spring Harbor, N.Y.: Cold Spring Harbor Laboratory, 1972:352-5.
37. Altman DG. Practical statistics for medical research. London: Chapman & Hall, 1991.
38. Muraca M, Fevery J Influence of sex and sex steroids on bilirubin-uridine diphosphate-glucuronosyltransferase activity of rat liver. Gastroenterology 1984; 87: 308-313
39. Berk PD, Blaschke TF, Waggoner JG Defective bromosulfophthalein clearance in patients with constitutional hepatic dysfunction (Gilbert's syndrome). Gastroenterology 1972; 63: 472-481
40. Martin JF, Vierling J-M, Wolkoff AW, Abnormal hepatic transport of indocyanine green in Gilbert's syndrome. Gastroenterology 1976; 70: 385-391
41. Berk PD, Blaschke TF Detection of Gilbert's syndrome in patients with hemolysis: a method using radioactive chromium. Ann Intern Med 1972; 77: 527-531
42. Bensinger TA, Maisels MJ, Carlson DE, Conrad ME Effect of low caloric diet on endogenous carbon monoxide production: normal adults and Gilbert's syndrome. Proc Soc Exp Biol Med 1973; 144: 417-419
43. Lundh B, Johansson MB, Mercke C, Cavallin-Stahl E Enhancement of heme catabolism by caloric restriction in man. Scand J Clin Lab Invest 1972; 30: 421-427
44. Felsher BF, Carpio NM, VanCouvering K Effect of fasting and phenobarbital on hepatic UDP-glucuronic acid formation in the rat. J Lab Clin Med 1979; 93: 414-427