TATA-box mutant in the promoter of the uridine diphosphate glucuronosyltransferase gene in Italian patients with Gilbert's syndrome

Italian Journal of Gastroenterology and Hepatology

Volumn 30, Issue 2, 1998, Pages 194-198

  Sampietro, M ^a   Lupica, L ^a   Perrero, L ^a   Romano, R ^a   Molteni, V ^a   Fiorelli, G ^a  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

Bilirubin conjugation; Gilbert's syndrome; Hyperbilirubinaemia; Uridine diphosphate glucuronosyltransferase

Indexed keywords

BILIRUBIN; GLUCURONOSYLTRANSFERASE;

ADULT; AGED; ARTICLE; BILIRUBIN BLOOD LEVEL; CHROMOSOME; CLINICAL ARTICLE; EUROPE; FEMALE; GENE FREQUENCY; GENE MUTATION; GILBERT DISEASE; HUMAN; HYPERBILIRUBINEMIA; MALE; PENETRANCE; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PROMOTER REGION; TATA BOX;

ADOLESCENT; ADULT; AGED; BASE SEQUENCE; CONFIDENCE INTERVALS; FEMALE; GENETIC MARKERS; GENOTYPE; GILBERT DISEASE; GLUCURONOSYLTRANSFERASE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; TATA BOX; TRANSCRIPTION, GENETIC;

EID: 0031850241     PISSN: 11258055     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

1. Gilbert A, Lereboulette P. La cholémie simple familiale. Sem Méd 1906;21:241-5.
2. Berk PD, Noyer C. The familial unconjugated hyperbilirubinemias. Semin Liver Dis 1994;14:356-85.
3. Arias IM, London IM. Bilirubin glucuronide formation in vitro; demonstration of a defect in Gilbert's disease. Science 1957;126:563-4.
4. Black M, Billing BH. Hepatic bilirubin UDP-glucuronyl transferase activity in liver disease and Gilbert's syndrome. N Engl J Med 1969;280:1266-71.
5. Ritter JK, Chen F, Sheen YY, Tran HM, Kimura S, Yeatman MT, et al. A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isoenzymes with identical carboxyl termini. J Biol Chem 1992;267:3257-61.
6. Aono S, Adachi Y, Uyama E, Yamada Y, Keino H, Nanno T, et al. Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome. Lancet 1995;345:958-9.
7. Koiwai O, Nishizawa M, Hasada K, Aono S, Adachi Y, Mamiya N, et al. Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase. Hum Mol Genet 1995;4:1183-6.
8. Sato H, Adachi Y, Koiwai O. The genetic basis of Gilbert's syndrome. Lancet 1996;347:557-8.
9. Bosma PJ, Chowdhury JR. Huang T-J, Lahiri P, Elferink RPJ, Van Es HHG, et al. Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Naijar syndrome, type I. FASEB J 1992;6:2859-63.
10. 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;90:150-5.
11. 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 1993:18:171-3.
12. " 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 1993:268:23573-9.
13. Aono S, Yamada Y, Keino H, Sasaoka Y, Nakagawa T, Onishi S, et al. A new type of defect in the gene for bilirubin uridine 5'diphosphate-glucuronosyltransferase in a patient with CriglerNajjar syndrome type I. Pediatr Res 1994;35:629-32.
14. Bosma PJ, Goldhoorn B, Elferink RPJ, Sinaasappel M, Oostra BA, Jansen PLM. A mutation in bilirubin uridine 5'-diphosphateglucuronosyltransferase isoform l causing Crigler-Najjar syndrome type II. Gastroenterology 1993:105:216-20.
15. Moghrabi N, Clarke DJ, Boxer M, Burchell B. 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 1993:53:722-9.
16. Bosma PJ, Chowdhury JR, Bakker C, Gantla S, De Boer A, Oostra BA, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. ' NEnglJMed 1995;333:1171-5.
17. Monaghan G, Ryan M, Seddon R, Hume R, Burchell B. Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet. 1996;347:578-81.
18. O'Hagan JE, Hamilton T, de Breton EG, Shaw AE. Human serum bilirubin. Clin Chem 1957;3:609-23.
19. Owens D, Evans J. Population studies on Gilbert's syndrome. J Med Genet 1975; 12:152-6.
20. Bailey A, Robinson D, Dawson AM. Does Gilbert's syndrome exist? Lancet 1977; 1:931-3. f
21. Olsson R, Eliding A, Jagenburg R, Lapidus L, Larsson B, Svärd- l1 sudd K, et al. Gilbert's syndrome - Does it exist? Acta Med Scand } 1988;224:485-90. I
22. Kornberg A. Latent liver disease in persons recovered from catarrhal jaundice and in otherwise normal medical students as revealed by the bilirubin excretion test. J Clin Invest 1942;21:299-308.
23. Sieg A, Arab L, Schlierf A, Stiehl A, Kommerell B. Die Prävalenz des Gilbert-Syndromes in Deutschland. Dtsch Med Wochenschr 1987; 112:1206-8. /
24. Sampietro M, Lupica L, Perrero L, Comino A, Martinez di Montemuros F, Cappellini MD, et al. The expression of uridinediphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous beta-thalassaemia and in glucose-6-phosphate dehydrogenase deficiency. Brit J Haematol 1997;99:437-9.