A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle
A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle
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DOI：
10.1126/science.288.5469.1248
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发表时间：
2000-05-19
期刊：
影响因子：
56.9
通讯作者：
Andersson, L
中科院分区：
文献类型：
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作者：
Milan, D;Jeon, JT;Andersson, L
高比例的纯种汉普郡猪携带显性RN-突变，其导致骨骼肌中糖原含量高。该突变对肉含量有有益影响，但对加工产量有不利影响。在这里，它表明，突变是一个非保守性取代（R200 Q）的PRKAG 3基因，编码肌肉特异性亚型的调节γ亚基的腺苷一磷酸活化蛋白激酶（AMPK）。酵母同源基因（SNF 4）的功能缺失突变导致葡萄糖代谢缺陷，包括糖原储存。对PRKAG 3信号通路的进一步分析可以提供对肌肉生理学以及人类非胰岛素依赖型糖尿病（一种与糖原合成受损相关的代谢紊乱）的发病机制的见解。
A high proportion of purebred Hampshire pigs carries the dominant RN- mutation, which causes high glycogen content in skeletal muscle. The mutation has beneficial effects on meat content but detrimental effects on processing yield. Here, it is shown that the mutation is a nonconservative substitution (R200Q) in the PRKAG3 gene, which encodes a muscle-specific isoform of the regulatory gamma subunit of adenosine monophosphate-activated protein kinase (AMPK). Loss-of-function mutations in the homologous gene in yeast (SNF4) cause defects in glucose metabolism, including glycogen storage. Further analysis of the PRKAG3 signaling pathway may provide insights into muscle physiology as well as the pathogenesis of noninsulin-dependent diabetes mellitus in humans, a metabolic disorder associated with impaired glycogen synthesis.