PHOSPHORYLASE-KINASE DEFICIENCY IN I-STRAIN MICE IS ASSOCIATED WITH A FRAMESHIFT MUTATION IN THE ALPHA-SUBUNIT MUSCLE ISOFORM

被引：21

作者：

SCHNEIDER, A ^{[1
]}

DAVIDSON, JJ ^{[1
]}

WULLRICH, A ^{[1
]}

KILIMANN, MW ^{[1
]}

机构：

[1] RUHR UNIV BOCHUM,FAK MED,INST PHYSIOL CHEM,D-44780 BOCHUM,GERMANY

来源：

NATURE GENETICS | 1993年 / 5卷 / 04期

关键词：

D O I：

10.1038/ng1293-381

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：381 / 385

页数：5

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