Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1406, Issue 3, 1998, Pages 267-273

  Yamamoto, Kazuo ^a   Sato, Hiroshi ^a   Fujiyama, Yoshihide ^a   Doida, Yukio ^a   Bamba, Tadao ^a  

^a SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

Author keywords

Crigler Najjar syndrome type II; Double mutation; Gilbert's syndrome; UGT1A1

Indexed keywords

GLUCURONOSYLTRANSFERASE; GLYCOSYLTRANSFERASE;

ARTICLE; CRIGLER NAJJAR SYNDROME; ENZYME ACTIVITY; GENE EXPRESSION; GILBERT DISEASE; HUMAN; HUMAN CELL; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

ANIMALS; ARGININE; ASPARTIC ACID; BLOTTING, WESTERN; COS CELLS; CRIGLER-NAJJAR SYNDROME; ENZYME ACTIVATION; GILBERT DISEASE; GLUCURONOSYLTRANSFERASE; GLYCINE; HOMOZYGOTE; HUMANS; MUTATION, MISSENSE; PHENOTYPE; TRANSFECTION; TYROSINE;

EID: 0031864410     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(98)00013-1     Document Type: Article

References (28)

1. Gilbert A., Lereboullet P. La cholemie simple familiale. Sem. Med. 21:1901;241-245.
2. Owens D., Evans J. Population studies on Gilbert's syndrome. J. Med. Genet. 12:1975;152-156.
3. Bailey A., Robinson D., Dawson A.M. Does Gilbert's disease exist? Lancet. 1:1977;931-933.
4. Black M., Billing B.H. Hepatic bilirubin UDP-glucuronyl transferase activity in liver disease and Gilbert's syndrome. New Engl. J. Med. 280:1969;1266-1271.
5. Adachi Y., Yamamoto T. Hepatic bilirubin-conjugating enzymes of man in the normal state and in liver disease. Gastroenterol. Jpn. 17:1982;235-240.
6. Arias I.M. Chronic unconjugated hyperbilirubinemia without overt signs of hemolysis in adolescents and adults. J. Clin. Invest. 41:1962;2233-2245.
7. Fevery J., Blanckaert N., Heirwegh K.P.H., 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. 60:1977;970-979.
8. Ritter J.K., Crawford J.M., Owens I.S. Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells. J. Biol. Chem. 266:1991;1043-1047.
9. Ritter J.K., Chen F., Sheen Y.Y., Tran H.M., Kimura S., Yeatman M.T., Owens I.S. A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini. J. Biol. Chem. 267:1992;3257-3261.
10. Bosma P.J., Goldhoorn B., Oude Elferink R.P., Sinaasappel M., Oostra B.A., Jansen P.L.M. A mutation in bilirubin urdine 5′-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar Syndrome type II. Gastroenterology. 105:1993;216-220.
11. Moghrabi N., Clarke D.J., 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. 18:1993;171-173.
12. Aono S., Yamada Y., Keino H., Hanada N., Nakagawa T., Sasaoka Y., Yazawa T., Sato H., Koiwai O. Identification of defect in the genes for bilirubin UDP-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type II. Biochem. Biophys. Res. Commun. 197:1993;1239-1244.
13. Seppen J., Bosma P.J., Goldhoorn B.G., Bakker C.T.M., Roy Chowdhury J., Roy Chowdhury N., Jansen P.L.M., Oude Elferink R.P.J. Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase. J. Clin. Invest. 94:1994;2385-2391.
14. Koiwai O., Aono S., Adachi Y., Kamisako T., Yasui Y., Nishizawa M., Sato H. Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait. Hum. Mol. Genet. 5:1996;645-647.
15. Aono S., Adachi Y., Uyama E., Yamada Y., Keino H., Nanno T., Koiwai O., Sato H. Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome. Lancet. 345:1995;958-959.
16. Koiwai O., Nishizawa M., Hasada K., Aono S., Adachi Y., Mamiya N., Sato H. Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase. Hum. Mol. Genet. 4:1995;1183-1186.
17. Bosma P.J., Roy Chowdhury J., Bakker C., Gantla S., de-Boer A., Oostra B.A., Lindhout D., Tytgat G.N.J., Jansen P.L.M., Oude Elferink R.P.J., Roy Chowdhury N. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. New Engl. J. Med. 333:1995;1171-1175.
18. Monaghan G., Ryan M., Seddon R., Hume R., Burchell B. Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet. 347:1996;578-581.
19. K. Yamamoto, Y. Soeda, T. Kamisako, H. Hosaka, M. Fukano, H. Sato, Y. Fujiyama, Y. Adachi, Y. Satoh, T. Bamba, Analysis of bilirubin uridine 5′-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II, J. Hum. Genet. (in press).
20. Soeda Y., Yamamoto K., Adachi Y., Hori T., Aono S., Koiwai O., Sato H. Predicted homozygous missense mutation in Gilbert's syndrome. Lancet. 346:1995;1494.
21. Sato H., Adachi Y., Koiwai O. The genetic basis of Gilbert's syndrome. Lancet. 347:1996;557-558.
22. Lowry O.H., Rosebrough N.J., Farr A.L., Landall R.J. Protein measurement with the Folin phenol reagent. J. Biol. Chem. 193:1951;265-275.
23. Bosma P.J., Roy Chowdhury N., Golhoorn B.G., Hofker M.H., Oude Elferink R.P.J., Jansen P.L.M., Roy Chowdhury J. 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 1. Hepatology. 15:1992;941-947.
24. Jackson M.R., Fournel-Gigleux S., Harding D., Burchell B. Examination of the substrate specificity of cloned rat kidney phenol UDP-glucuronyltransferase expressed in COS-7 cells. Mol. Pharmacol. 34:1988;638-642.
25. 14C ]glucuronic acid Anal. Biochem. 109:1980;321-329.
26. Adachi Y., Kamisako T., Koiwai O., Yamamoto K., Sato H. Genetic background of constitutional unconjugated hyperbilirubinemia. Int. Hepatol. Commun. 5:1996;297-307.
27. Ikuta T., Shibuya A., Yoshida A. Direct determination of usual (Caucasian-type) and atypical (Oriental-type) alleles of the class I human alcohol dehydrogenase-2 locus. Biochem. Genet. 26:1988;519-525.
28. Kamisako T., Soeda Y., Yamamoto K., Sato H., Adachi Y. Multiplicity of mutation in UDP-glucuronosyltransferase 1*1 gene in Gilbert's syndrome. Int. Hepatol. Commun. 6:1997;249-252.