GEPHE SUMMARY Print
GepheID
GP00000682
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Sus scrofa
Trait State in Taxon B
Sus scrofa - Hampshire - muscle with higher glycogen and distinct cooking and curing traits
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
pig
Synonyms
pig; pigs; swine; wild boar; Sus scrofa Linnaeus, 1758; Sus scrofus
Rank
species
Lineage
Show more ... ebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Suina; Suidae; Sus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
domestic pig
Synonyms
Sus domestica; Sus domesticus; Sus scrofa domestica; domestic pig
Rank
subspecies
Lineage
Show more ... hostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Suina; Suidae; Sus; Sus scrofa
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Sus scrofa - Hampshire
GENOTYPIC CHANGE
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
R200Q in CBS1; which is the most conserved region among AMPK g chain isoforms; and R200 is conserved in mammalian and Drosophila AMPK g isoforms
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid Arg Gln 200
Authors
Milan D; Jeon JT; Looft C; Amarger V; Robic A; Thelander M; Rogel-Gaillard C; Paul S; et al. ... show more
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.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
1
EXTERNAL LINKS
COMMENTS
@AllelicSeries https://omia.org/OMIA001085/9823/
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