A regulatory mutation in IGF2 causes a major QTL effect on muscle growth in the pig

Anne-Sophie Van Laere, Minh Nguyen, Martin Braunschweig, Carine Nezer, Catherine Collette, Laurence Moreau, Alan L. Archibald, Chris S. Haley, Nadine Buys, Michael Tally, Göran Andersson, Michel Georges () and Leif Andersson ()
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Anne-Sophie Van Laere: Swedish University of Agricultural Sciences, Uppsala University, BMC
Minh Nguyen: University of Liege (B43)
Martin Braunschweig: Swedish University of Agricultural Sciences, Uppsala University, BMC
Carine Nezer: University of Liege (B43)
Catherine Collette: University of Liege (B43)
Laurence Moreau: University of Liege (B43)
Alan L. Archibald: Roslin Institute (Edinburgh)
Chris S. Haley: Roslin Institute (Edinburgh)
Nadine Buys: Gentec
Michael Tally: Tally Consulting
Göran Andersson: Swedish University of Agricultural Sciences, Uppsala University, BMC
Michel Georges: University of Liege (B43)
Leif Andersson: Swedish University of Agricultural Sciences, Uppsala University, BMC

Nature, 2003, vol. 425, issue 6960, 832-836

Abstract: 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 variation3,4. 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) region5,6. 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 variation7.

Date: 2003
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DOI: 10.1038/nature02064

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