Abstract |
The hyperbilirubinemic Gunn rat lacks hepatic UDP-glucuronosyltransferase (UDPGT) activity toward bilirubin and has been used as an animal model for human Crigler-Najjar syndrome type I. Rat liver bilirubin UDPGT cDNA was isolated. The cDNA shared an identical 913-bp sequence (corresponding to the C-terminal 247 amino acid residues) with that for phenol UDPGT whose activity was also deficient in the Gunn rat. The bilirubin UDPGT gene was mapped at the position of 37 on mouse chromosome 1 by analyzing restriction endonuclease fragment length variations using the rat bilirubin UDPGT cDNA as a probe. The genetic defect of bilirubin UDPGT in the mutant rat was proved to be a -1 frameshift mutation. The mutation was found not only to be located in the region where the cDNA for bilirubin UDPGT shared the identical sequence with that for phenol UDPGT but also to occur in the same position in the two cDNAs from the mutant.
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Authors | H Sato, S Aono, O Koiwai |
Journal | Nihon rinsho. Japanese journal of clinical medicine
(Nihon Rinsho)
Vol. 51
Issue 2
Pg. 501-6
(Feb 1993)
ISSN: 0047-1852 [Print] Japan |
PMID | 8096554
(Publication Type: English Abstract, Journal Article, Review)
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Chemical References |
- DNA Probes
- DNA
- Glucuronosyltransferase
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Topics |
- Amino Acid Sequence
- Animals
- Base Sequence
- Chromosome Mapping
- Crigler-Najjar Syndrome
(genetics)
- DNA
(isolation & purification)
- DNA Probes
- Disease Models, Animal
- Glucuronosyltransferase
(chemistry, deficiency, genetics)
- Humans
- Molecular Sequence Data
- Mutation
- Polymorphism, Restriction Fragment Length
- Rats
- Rats, Gunn
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