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Comparison of the Tyrosine Aminotransferase cDNA and Genomic DNA Sequences of Normal Mink and Mink Affected with Tyrosinemia Type II
- Source :
- Journal of Heredity. 96:302-309
- Publication Year :
- 2005
- Publisher :
- Oxford University Press (OUP), 2005.
-
Abstract
- Type II tyrosinemia, designated Richner-Hanhart syndrome in humans, is a hereditary metabolic disorder with autosomal recessive inheritance characterized by a deficiency of tyrosine aminotransferase activity. Mutations occur in the human tyrosine aminotransferase gene, resulting in high levels of tyrosine and disease. Type II tyrosinemia occurs in mink, and our hypothesis was that it would also be associated with mutation(s) in the tyrosine aminotransferase gene. Therefore, the transcribed cDNA and the genomic tyrosine aminotransferase gene were sequenced from normal and affected mink. The gene extended over 11.9 kb and had 12 exons coding for a predicted 454-amino-acid protein with 93% homology with human tyrosine aminotransferase. FISH analysis mapped the gene to chromosome 8 using the Mandahl and Fredga (1975) nomenclature and chromosome 5 using the Christensen et al. (1996) nomenclature. The hypothesis was rejected because sequence analysis disclosed no mutations in either cDNA or introns that were associated with affected mink. This suggests that an unlinked gene regulatory mutation may be the cause of tyrosinemia in mink.
- Subjects :
- DNA, Complementary
Molecular Sequence Data
Animal Diseases
Tyrosinemia
Exon
Tyrosine aminotransferase
Complementary DNA
biology.animal
Genetics
medicine
Animals
Amino Acid Sequence
Tyrosine
Mink
Molecular Biology
Gene
In Situ Hybridization, Fluorescence
Genetics (clinical)
DNA Primers
Tyrosine Transaminase
Tyrosinemia type II
Base Sequence
biology
Tyrosinemias
Chromosome Mapping
medicine.disease
Molecular biology
Introns
Biotechnology
Subjects
Details
- ISSN :
- 14657333 and 00221503
- Volume :
- 96
- Database :
- OpenAIRE
- Journal :
- Journal of Heredity
- Accession number :
- edsair.doi.dedup.....c535e2d413ce3fd21b63dd20642702c0