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Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase. 1995

O Koiwai, and M Nishizawa, and K Hasada, and S Aono, and Y Adachi, and N Mamiya, and H Sato
Laboratories of Biochemistry, Aichi Cancer Center Research Institute, Nagoya, Japan.

Gilbert's syndrome, which is characterized by chronic, non-hemolytic unconjugated hyperbilirubinemia, is caused by a reduction in the activity of hepatic bilirubin UDP-glucuronosyltransferase (UGT). Here, we report that all examined patients with this disease carried missense mutations in the gene for UGT and that the mutations were heterozygous. An expression study in COS cells in vitro, using the expression vector pcDL that carried the mutated gene for UGT from a patient, indicated that approximately 14% of the normal UGT activity was expressed. However, the UGT activity of the patient with Gilbert's syndrome was unexpectedly < 50% of the normal, perhaps as the result of the dominant negative nature of the mutation.

UI MeSH Term Description Entries
D008099 Liver A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances. Livers
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D002460 Cell Line Established cell cultures that have the potential to propagate indefinitely. Cell Lines,Line, Cell,Lines, Cell
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D004247 DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D005091 Exons The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. Mini-Exon,Exon,Mini Exon,Mini-Exons
D005260 Female Females
D005878 Gilbert Disease A benign familial disorder, transmitted as an autosomal dominant trait. It is characterized by low-grade chronic hyperbilirubinemia with considerable daily fluctuations of the bilirubin level. Constitutional Liver Dysfunction,Familial Nonhemolytic Jaundice,Gilbert Syndrome,Gilbert's Disease,Gilbert's Syndrome,Gilbert-Lereboullet Syndrome,Hyperbilirubinemia 1,Hyperbilirubinemia I,Hyperbilirubinemia, Arias Type,Meulengracht Syndrome,Unconjugated Benign Bilirubinemia,Arias Type Hyperbilirubinemia,Arias Type Hyperbilirubinemias,Disease, Gilbert,Disease, Gilbert's,Gilberts Disease,Gilberts Syndrome,Hyperbilirubinemia 1s,Hyperbilirubinemias, Arias Type,Syndrome, Gilbert,Syndrome, Gilbert's

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