X-linked dominant inheritance of partial phosphorylase kinase deficiency in mice.
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 (PhKc). 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 (alpha + alpha'):beta:gamma=0.54:1:1.169, in comparison with that of the rabbit (alpha + alpha'):beta:gamma=1.1:1.0:1.0 and that of normal murine enzyme 0.9:1.0:0.7.
D000818:Animals; D003433:Crosses, Genetic; D005260:Female; D005799:Genes, Dominant; D006003:Glycogen / Q000032:analysis; D008099:Liver / Q000201:enzymology; D008297:Male; D051379:Mice / Q000235:genetics*; D009132:Muscles / Q000201:enzymology; D009154:Mutation; D009206:Myocardium / Q000201:enzymology; D010764:Phosphorylase Kinase / Q000172:deficiency / Q000235:genetics*; D012730:Sex Chromosomes; D014960:X Chromosome
D006003:Glycogen; D010764:Phosphorylase Kinase