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- Title
A regulatory mutation in IGF2 causes a major QTL effect on muscle growth in the pig.
- Authors
Van Laere, Anne-Sophie; Nguyen, Minh; Braunschweig, Martin; Nezer, Carine; Collette, Catherine; Moreau, Laurence; Archibald, Alan L; Haley, Chris S; Buys, Nadine; Tally, Michael; Andersson, Göran; Georges, Michel; Andersson, Leif
- 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.
- Publication
Nature, 2003, Vol 425, Issue 6960, p832
- ISSN
1476-4687
- Publication type
Journal Article
- DOI
10.1038/nature02064