Article (Scientific journals)
A regulatory mutation in IGF2 causes a major QTL effect on muscle growth in the pig
Van Laere, Anne-Sophie; Nguyen, Minh Ngoc; Braunschweig, M. et al.
2003In Nature, 425 (6960), p. 832-836
Peer Reviewed verified by ORBi
 

Files


Full Text
nature02064.pdf
Publisher postprint (400.94 kB)
Request a copy

All documents in ORBi are protected by a user license.

Send to



Details



Abstract :
[en] 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 variation(3,4). 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) region(5,6). 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 variation(7).
Disciplines :
Genetics & genetic processes
Author, co-author :
Van Laere, Anne-Sophie   ;  Université de Liège - ULiège > Département de productions animales > Génomique animale
Nguyen, Minh Ngoc  ;  Université de Liège - ULiège > LTAS - Infographie
Braunschweig, M.
Nezer, Carine ;  Université de Liège - ULiège > Département de sciences des denrées alimentaires > Microbiologie des denrées alimentaires
Collette, C.
Moreau, L.
Archibald, A. L.
Haley, C. S.
Buys, N.
Tally, M.
Andersson, G.
Georges, Michel   ;  Université de Liège - ULiège > Département de productions animales > Génomique animale
Andersson, L. 
More authors (3 more) Less
 These authors have contributed equally to this work.
Language :
English
Title :
A regulatory mutation in IGF2 causes a major QTL effect on muscle growth in the pig
Publication date :
23 October 2003
Journal title :
Nature
ISSN :
0028-0836
eISSN :
1476-4687
Publisher :
Nature Publishing Group, London, United Kingdom
Volume :
425
Issue :
6960
Pages :
832-836
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 08 November 2011

Statistics


Number of views
74 (16 by ULiège)
Number of downloads
4 (4 by ULiège)

Scopus citations®
 
746
Scopus citations®
without self-citations
659
OpenCitations
 
648

Bibliography


Similar publications



Contact ORBi