| Autor: |
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 |
| Předmět: |
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| Zdroj: |
Nature; 10/23/2003, Vol. 425 Issue 6960, p832, 5p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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