Abstract
A new mouse strain, the V strain, with a partial deficiency of phosphorylase kinase has been established. The deficiency is caused by an X-linked dominant gene (Phk c). Muscle extracts of homozygous and heterozygous females and hemizygous males have about 25% of the activity found in extracts of normal (C3H/HeHan) mice. This dominant phosphorylase kinase deficiency of the new V strain is different from that of the I-strain mice with the X-linked recessive deficiency of skeletal muscle phosphorylase kinase. The muscle extracts of V-strain and normal mice contain the same phosphorylase phosphatase activity of about 1 U/mg. Heart and liver extracts from V mice contained about 50% and 66%, respectively, of the phosphorylase kinase activity compared to that found in the same organs from the normal mice. The glycogen content of the skeletal muscle of the V strain was normal, i.e., 0.9 mg/g. Phosphorylase kinase was purified from the skeletal muscle of the V strain by (a) hydrophobic chromatography on methylamine Sepharose, (b) ammonium sulfate precipitation, and (c) gel filtration of Sepharose 4B. The enzyme has a similar structure to the normal murine and rabbit skeletal muscle enzyme, except that the proportion of the subunits differs. The molar ratio of the subunits of the V strain mice is (α+α′):β:γ=0.54:1:1.169, in comparison with that of the rabbit (α+α′):β:γ=1.1:1.0:1.0 and that of normal murine enzyme 0.9:1.0:0.7.
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This work was supported by the Minister für Wissenschaft und Forschung des Landes Nordrhein-Westfalen, West Germany and of the Fonds der Chemie, West Germany, and forms part of the md thesis of A. Vrbica.
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Varsányi, M., Vrbica, A. & Heilmeyer, L.M.G. X-linked dominant inheritance of partial phosphorylase kinase deficiency in mice. Biochem Genet 18, 247–261 (1980). https://doi.org/10.1007/BF00484240
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DOI: https://doi.org/10.1007/BF00484240