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

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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
    Uppsala University, BMC)

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.

Suggested Citation

  • 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 & M, 2003. "A regulatory mutation in IGF2 causes a major QTL effect on muscle growth in the pig," Nature, Nature, vol. 425(6960), pages 832-836, October.
  • Handle: RePEc:nat:nature:v:425:y:2003:i:6960:d:10.1038_nature02064
    DOI: 10.1038/nature02064
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    Citations

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    Cited by:

    1. Dandan Wang & Shengnan Wang & Wenjie Tian & Yuehui Ma & Lin Jiang, 2022. "Comprehensive Analysis of lncRNA and mRNA Reveals the Effect of ZBED6 on Spleen Growth in Pigs," Agriculture, MDPI, vol. 13(1), pages 1-13, December.
    2. Yanchun Li & Cintia M Coelho & Tian Liu & Song Wu & Jiasheng Wu & Yanru Zeng & Youchun Li & Brenda Hunter & Ricardo A Dante & Brian A Larkins & Rongling Wu, 2008. "A Statistical Model for Estimating Maternal-Zygotic Interactions and Parent-of-Origin Effects of QTLs for Seed Development," PLOS ONE, Public Library of Science, vol. 3(9), pages 1-12, September.
    3. L. Zwierzchowski & E. Siadkowska & J. Oprządek & K. Flisikowski & E. Dymnicki, 2010. "An association of C/T polymorphism in exon 2 of the bovine insulin-like growth factor 2 gene with meat production traits in Polish Holstein-Friesian cattle," Czech Journal of Animal Science, Czech Academy of Agricultural Sciences, vol. 55(6), pages 227-233.
    4. A. C. Cattáneo & M. S. Trigo & L. O. Perez & C. A. Cordiviola & A. G. Antonini, 2017. "Detection of Three Allelic Variants in the Rabbit Growth Hormone Gene," International Journal of Sciences, Office ijSciences, vol. 6(03), pages 48-50, March.
    5. Zhanwei Zhuang & Shaoyun Li & Rongrong Ding & Ming Yang & Enqin Zheng & Huaqiang Yang & Ting Gu & Zheng Xu & Gengyuan Cai & Zhenfang Wu & Jie Yang, 2019. "Meta-analysis of genome-wide association studies for loin muscle area and loin muscle depth in two Duroc pig populations," PLOS ONE, Public Library of Science, vol. 14(6), pages 1-21, June.

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