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A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle.
- Source :
-
Science (New York, N.Y.) [Science] 2000 May 19; Vol. 288 (5469), pp. 1248-51. - Publication Year :
- 2000
-
Abstract
- 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.
- Subjects :
- AMP-Activated Protein Kinases
Alleles
Amino Acid Sequence
Amino Acid Substitution genetics
Animals
Blotting, Northern
Cloning, Molecular
DNA, Complementary isolation & purification
Gene Expression Regulation, Enzymologic
Homozygote
Humans
Isoenzymes biosynthesis
Isoenzymes genetics
Isoenzymes isolation & purification
Molecular Sequence Data
Muscle, Skeletal metabolism
Organ Specificity genetics
Phenotype
Protein Kinases biosynthesis
Protein Kinases isolation & purification
Sequence Homology, Amino Acid
Swine
Glycogen metabolism
Muscle, Skeletal enzymology
Point Mutation
Protein Kinases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0036-8075
- Volume :
- 288
- Issue :
- 5469
- Database :
- MEDLINE
- Journal :
- Science (New York, N.Y.)
- Publication Type :
- Academic Journal
- Accession number :
- 10818001
- Full Text :
- https://doi.org/10.1126/science.288.5469.1248