A NONSENSE MUTATION IN THE 4-HYDROXYPHENYLPYRUVIC ACID DIOXYGENASE GENE (HPD) CAUSES SKIPPING OF THE CONSTITUTIVE EXON AND HYPERTYROSINEMIA IN MOUSE STRAIN-III

被引:24
作者
ENDO, F [1 ]
AWATA, H [1 ]
KATOH, H [1 ]
MATSUDA, I [1 ]
机构
[1] CENT INST EXPTL ANIM, DEPT GENET, KAWASAKI, KANAGAWA 216, JAPAN
关键词
D O I
10.1016/0888-7543(95)80122-3
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
4-Hydroxyphenylpyruvic acid dioxygenase (HPD; EC 1.13.11.27) is an important enzyme in tyrosine catabolism in most organisms. Decreased activity of 4-hydroxyphenylpyruvic acid dioxygenase in the liver of mouse strain III is associated with tyrosinemia. We report a nucleotide substitution that generates a termination codon in exon 7 of the 4-hydroxyphenylpyruvic acid dioxygenase gene in III mice. This mutation is associated with partial exon skipping, and most of the mRNA lacks sequences corresponding to exon 7. The partial exon skipping apparently is the result of a nonsense mutation in the exon. Mouse strain III is a model for human tyrosinemia type 3 (McKusick 276710), and this strain together with recently established models for tyrosinemia type 1 will facilitate studies of hereditary tyrosinemias. (C) 1995 Academic Press, Inc.
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页码:164 / 169
页数:6
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