Jones T A, da Cruz e Silva E F, Spurr N K, Sheer D, Cohen P T
Imperial Cancer Research Fund, Lincoln's Inn Fields, London, U.K.
Biochim Biophys Acta. 1990 Jan 30;1048(1):24-9. doi: 10.1016/0167-4781(90)90017-v.
Skeletal muscle phosphorylase kinase has the structure (alpha beta gamma delta)4 where the alpha and beta subunits are regulatory components, the gamma subunit possesses catalytic activity and the delta subunit is identical to the calcium binding protein calmodulin. A rabbit skeletal muscle cDNA for the gamma subunit has been used to map the human gene (PYKG1) to 7p12-q21, by analysis of somatic cell hybrids and in situ hybridisation. The data suggest that the skeletal muscle gamma subunit gene is located just above the centromere of chromosome 7, with further cross-hybridising sequences at 7q21 and 11p11-14. The liver gamma subunit is distinct and its mRNA does not cross-hybridize with the skeletal muscle gamma subunit cDNA. These results indicate that autosomal human phosphorylase kinase deficiencies affecting both liver and muscle are likely to be caused by a defect in the autosomally determined beta subunit, rather than the gamma subunit.
骨骼肌磷酸化酶激酶具有(αβγδ)4结构，其中α和β亚基是调节成分，γ亚基具有催化活性，δ亚基与钙结合蛋白钙调蛋白相同。通过分析体细胞杂种和原位杂交，已使用兔骨骼肌γ亚基的cDNA将人类基因(PYKG1)定位到7p12 - q21。数据表明，骨骼肌γ亚基基因位于7号染色体着丝粒上方，在7q21和11p11 - 14处有进一步的交叉杂交序列。肝脏γ亚基不同，其mRNA与骨骼肌γ亚基cDNA不交叉杂交。这些结果表明，影响肝脏和肌肉的常染色体人类磷酸化酶激酶缺乏症可能是由常染色体决定的β亚基缺陷引起的，而不是γ亚基。
