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Titolo:
A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle
Autore:
Milan, D; Jeon, JT; Looft, C; Amarger, V; Robic, A; Thelander, M; Rogel-Gaillard, C; Paul, S; Iannuccelli, N; Rask, L; Ronne, H; Lundstrom, K; Reinsch, N; Gellin, J; Kalm, E; Le Roy, P; Chardon, P; Andersson, L;
Indirizzi:
Swedish Univ Agr Sci, Dept Anim Breeding & Genet, SE-75124 Uppsala, SwedenSwedish Univ Agr Sci Uppsala Sweden SE-75124 t, SE-75124 Uppsala, Sweden Swedish Univ Agr Sci, Dept Plant Biol, SE-75124 Uppsala, Sweden Swedish Univ Agr Sci Uppsala Sweden SE-75124 l, SE-75124 Uppsala, Sweden Swedish Univ Agr Sci, Dept Food Sci, SE-75124 Uppsala, Sweden Swedish UnivAgr Sci Uppsala Sweden SE-75124 i, SE-75124 Uppsala, Sweden INRA, Lab Genet Cellulaire, F-31326 Castanet Tolosan, France INRA Castanet Tolosan France F-31326 e, F-31326 Castanet Tolosan, France Univ Kiel, Inst Anim Breeding & Husb, D-24098 Kiel, Germany Univ Kiel Kiel Germany D-24098 im Breeding & Husb, D-24098 Kiel, Germany INRA, Genet Quantitat & Appl Stn, F-78352 Jouy En Josas, France INRA JouyEn Josas France F-78352 ppl Stn, F-78352 Jouy En Josas, France Univ Uppsala, Dept Med Biochem & Microbiol, SE-75223 Uppsala, Sweden Univ Uppsala Uppsala Sweden SE-75223 Microbiol, SE-75223 Uppsala, Sweden
Titolo Testata:
SCIENCE
fascicolo: 5469, volume: 288, anno: 2000,
pagine: 1248 - 1251
SICI:
0036-8075(20000519)288:5469<1248:AMIPAW>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
ACTIVATED PROTEIN-KINASE; MEAT QUALITY; GENE; CHROMOSOME-15; ALIGNMENT; TOOL;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Agriculture,Biology & Environmental Sciences
Life Sciences
Physical, Chemical & Earth Sciences
Citazioni:
29
Recensione:
Indirizzi per estratti:
Indirizzo: Andersson, L Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Box 597, SE-75124 Uppsala, Sweden Swedish Univ Agr Sci Box 597 Uppsala Sweden SE-75124 Sweden
Citazione:
D. Milan et al., "A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle", SCIENCE, 288(5469), 2000, pp. 1248-1251

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 processingyield. 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 musclephysiology as well as the pathogenesis of noninsulin-dependent diabetes mellitus in humans, a metabolic disorder associated with impaired glycogen synthesis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 15:44:35