GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00000502
Main curator
Martin
PHENOTYPIC CHANGE
Trait #1
Trait Category
Trait
Trait State in Taxon A
Sus scrofa
Trait State in Taxon B
Sus scrofa
Trait #2
Trait Category
Trait
Trait State in Taxon A
-
Trait State in Taxon B
-
Trait #3
Trait Category
Trait
Trait State in Taxon A
-
Trait State in Taxon B
-
Ancestral State
Data not curated
Taxonomic Status
Taxon A
Latin Name
Common Name
pig
Synonyms
pig; pigs; swine; wild boar; Sus scrofa Linnaeus, 1758; Sus scrofus
Rank
species
Lineage
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ebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Suina; Suidae; Sus
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
domestic pig
Synonyms
Sus domestica; Sus domesticus; Sus scrofa domestica; domestic pig
Rank
subspecies
Lineage
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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?
No
GENOTYPIC CHANGE
Generic Gene Name
Igf2
Synonyms
Mpr; M6pr; Peg2; Igf-2; Igf-II; AL033362
String
Sequence Similarities
Belongs to the insulin family.
GO - Molecular Function
GO:0008083 : growth factor activity
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GO - Biological Process
GO - Cellular Component
GO:0062023 : collagen-containing extracellular matrix
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Presumptive Null
Molecular Type
Aberration Type
Molecular Details of the Mutation
1bp change
Experimental Evidence
Main Reference
Authors
Van Laere AS; Nguyen M; Braunschweig M; Nezer C; Collette C; Moreau L; Archibald AL; Haley CS; et al.
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Abstract
Most traits and disorders have a multifactorial background indicating that they are controlled by environmental factors as well as an unknown number of quantitative trait loci (QTLs). The identification of mutations underlying QTLs is a challenge because each locus explains only a fraction of the phenotypic variation. A paternally expressed QTL affecting muscle growth, fat deposition and size of the heart in pigs maps to the IGF2 (insulin-like growth factor 2) region. Here we show that this QTL is caused by a nucleotide substitution in intron 3 of IGF2. The mutation occurs in an evolutionarily conserved CpG island that is hypomethylated in skeletal muscle. The mutation abrogates in vitro interaction with a nuclear factor, probably a repressor, and pigs inheriting the mutation from their sire have a threefold increase in IGF2 messenger RNA expression in postnatal muscle. Our study establishes a causal relationship between a single-base-pair substitution in a non-coding region and a QTL effect. The result supports the long-held view that regulatory mutations are important for controlling phenotypic variation.
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
No matches found.
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