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Title: A regulatory mutation in IGF2 causes a major QTL effect on muscle growth in the pig
Authors: Van Laere, AS
Nguyen, Minh Tho
Braunschweig, M
Nezer, C
Collette, C
Moreau, L
Archibald, AL
Haley, CS
Buys, Nadine
Tally, M
Andersson, G
Georges, M
Andersson, L #
Issue Date: Oct-2003
Publisher: Nature publishing group
Series Title: Nature vol:425 issue:6960 pages:832-836
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)(1,2). The identification of mutations underlying QTLs is a challenge because each locus explains only a fraction of the phenotypic variation(3,4). 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(5,6). 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(7).
URI: 
ISSN: 0028-0836
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Division of Gene Technology (-)
# (joint) last author

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