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, Leif Andersson

Research output: Contribution to journalArticlepeer-review


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.
Original languageEnglish
Pages (from-to)832-6
Number of pages5
Issue number6960
Publication statusPublished - 2003


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