A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle
Denis Milan
(1)
,
J.T. Jeon
(2)
,
C Looft
(3)
,
Valérie Amarger
(2)
,
Annie Robic
(1)
,
M. Thelander
(4)
,
Claire Rogel Gaillard
(5)
,
Stéphane Paul
(3)
,
N. Iannucelli
(1)
,
Lars Rask
(6)
,
Hans Ronne
(4)
,
Kerstin Lundström
(7)
,
Norbert Reinsch
(3)
,
Joel Gellin
(1)
,
Ernst Kalm
(3)
,
Pascale P. Le Roy
(5)
,
Patrick Chardon
(8)
,
Leif Andersson
(2)
1
LGC -
Laboratoire de Génétique Cellulaire
2 Department of Animal Bredding and Genetics
3 Institute of Animal Breeding and Husbandry
4 Department of Plant Biology
5 SGQA - Station de Génétique Quantitative et Appliquée
6 Department of Medical Biochemistry and Microbiology
7 SLU - Swedish University of Agricultural Sciences = Sveriges lantbruksuniversitet
8 LREG - Laboratoire de radiobiologie et d'étude du génome
2 Department of Animal Bredding and Genetics
3 Institute of Animal Breeding and Husbandry
4 Department of Plant Biology
5 SGQA - Station de Génétique Quantitative et Appliquée
6 Department of Medical Biochemistry and Microbiology
7 SLU - Swedish University of Agricultural Sciences = Sveriges lantbruksuniversitet
8 LREG - Laboratoire de radiobiologie et d'étude du génome
Denis Milan
- Fonction : Auteur
- PersonId : 183743
- IdHAL : denis-milan
- ORCID : 0000-0002-8062-5072
- IdRef : 068018940
Valérie Amarger
- Fonction : Auteur
- PersonId : 746830
- IdHAL : valerie-amarger
- ORCID : 0000-0001-9258-6675
- IdRef : 081794843
Annie Robic
- Fonction : Auteur
- PersonId : 744597
- IdHAL : annie-robic
- ORCID : 0000-0003-3071-8614
Claire Rogel Gaillard
- Fonction : Auteur
- PersonId : 736130
- IdHAL : claire-rogel-gaillard
- ORCID : 0000-0002-2174-1962
- IdRef : 154750417
Stéphane Paul
- Fonction : Auteur
- PersonId : 1047436
- ORCID : 0000-0002-8830-4273
- IdRef : 070306079
Pascale P. Le Roy
- Fonction : Auteur
- PersonId : 743069
- IdHAL : psleroy
- ORCID : 0000-0003-0710-1245
- IdRef : 057667950
Résumé
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.