Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform
| Autor: | Angela Schneider, Andrea Wüllrich, Manfred W. Kilimann, Jutta J. Davidson |
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| Rok vydání: | 1993 |
| Předmět: |
Gene isoform
X Chromosome Phosphorylase Kinase Mutant Molecular Sequence Data Biology medicine.disease_cause Frameshift mutation Mice Genetics medicine Coding region Animals Amino Acid Sequence Phosphorylase kinase Frameshift Mutation Sex Chromosome Aberrations G alpha subunit chemistry.chemical_classification Mutation Mice Inbred BALB C Base Sequence Muscles Blotting Northern Molecular biology Enzyme chemistry |
| Zdroj: | Nature genetics. 5(4) |
| ISSN: | 1061-4036 |
| Popis: | Heritable phosphorylase kinase (Phk) deficiency underlies a group of glycogenoses in humans, mice and rats that differ in mode of inheritance and tissue-specificity. It is assumed that this heterogeneity is caused by mutations affecting different subunits and isoforms of Phk. As the first Phk deficiency mutation to be identified, we report a single-nucleotide insertion in the coding sequence of the Phk alpha subunit muscle isoform of the I-strain mouse. This mutation accounts for the virtually complete enzymatic deficiency, the tissue specificity and the X-linked mode of inheritance in this mutant. |
| Databáze: | OpenAIRE |
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