Document Detail

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.
MedLine Citation:
PMID:  9630669     Owner:  NLM     Status:  MEDLINE    
In our mutation analyses of bilirubin UDP glycosyltransferase (UGT1A1) gene, we encountered six patients with Crigler-Najjar syndrome type II who were double homozygotes for G71R and Y486D, a patient with Gilbert's syndrome who was a single homozygote for G71R and six patients with Gilbert's syndrome who were single heterozygote for G71R. To clarify the role of each mutation in the occurrence of the two syndromes, we made four mutant expression models. Relative UGT1A1 activity of a single homozygous model of G71R was 32.2+/-1.6% of normal, that of a single homozygous model of Y486D was 7.6+/-0.5%, that of a double homozygous model of G71R and Y486D was 6.2+/-1.6% and that of a heterozygous model of G71R was 60.2+/-3.5%. The decreased activities of the single homozygous model of G71R and the double homozygous model were at an appropriate level to be diagnosed as Gilbert's syndrome and CN-II, respectively. The activity of a single heterozygous model of G71R was somewhat high to develop to the phenotype of Gilbert's syndrome, suggesting the presence of additional factors for the etiology of Gilbert's syndrome.
K Yamamoto; H Sato; Y Fujiyama; Y Doida; T Bamba
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Biochimica et biophysica acta     Volume:  1406     ISSN:  0006-3002     ISO Abbreviation:  Biochim. Biophys. Acta     Publication Date:  1998 Apr 
Date Detail:
Created Date:  2001-01-26     Completed Date:  2001-07-05     Revised Date:  2014-03-28    
Medline Journal Info:
Nlm Unique ID:  0217513     Medline TA:  Biochim Biophys Acta     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  267-73     Citation Subset:  IM    
Copyright Information:
Copyright 1998 Elsevier Science B.V. All rights reserved.
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MeSH Terms
Arginine / genetics
Aspartic Acid / genetics
Blotting, Western
COS Cells
Crigler-Najjar Syndrome / classification,  enzymology*,  genetics*
Enzyme Activation / genetics
Gilbert Disease / enzymology*,  genetics*
Glucuronosyltransferase / biosynthesis,  genetics*,  metabolism
Glycine / genetics
Mutation, Missense*
Tyrosine / genetics
Reg. No./Substance:
30KYC7MIAI/Aspartic Acid; 42HK56048U/Tyrosine; 94ZLA3W45F/Arginine; EC 2.4.1.-/UGT1A1 enzyme; EC; TE7660XO1C/Glycine

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