title: A non-synonymous mutation in a conserved site of the MTTP gene is strongly associated with protein activity and fatty acid profile in pigs.
abstract: Despite the economic interest of the fatty acid profile in pigs, no gene has been convincingly associated with this trait so far. Here, the porcine microsomal triglyceride transfer protein (MTTP) gene, which plays a crucial role in the assembly of nascent lipoproteins, has been analysed as a positional candidate gene for a QTL affecting the fatty acid composition that was previously identified on chromosome 8 in an Iberian by Landrace F(2) cross. By resequencing a panel of different breeds, a non-synonymous polymorphism in a conserved residue of the lipid transfer domain of MTTP was identified. Association analyses with this polymorphism showed a strong association with the fatty acid composition of porcine fat, much stronger than the QTL effect, in the F(2) cross and in a synthetic Sino-European line. In addition, in vitro activity assays in liver protein extracts have shown that this mutation is also associated with the lipid transfer activity of the MTTP protein (P < 0.1). These results suggest that the detected polymorphism is a potential causal factor of the fatty acid composition QTL. There appears to be an interaction between the porcine MTTP genotype and the type of fat source in the pig diet, which would agree with the previous results on the biology of MTTP biology.
authors.affiliation: Departament de Ciència Animal i dels Aliments, Facultat de Veterinària, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Estellé
authors.forename: A I
authors.initials: AI
authors.lastname: Fernández
authors.forename: M
authors.initials: M
authors.lastname: Pérez-Enciso
authors.forename: A
authors.initials: A
authors.lastname: Fernández
authors.forename: C
authors.initials: C
authors.lastname: Rodríguez
authors.forename: A
authors.initials: A
authors.lastname: Sánchez
authors.forename: J L
authors.initials: JL
authors.lastname: Noguera
authors.forename: J M
authors.initials: JM
authors.lastname: Folch
mesh_terms: D000818:Animals; D002352:Carrier Proteins / Q000235:genetics*; D004032:Diet; D005227:Fatty Acids / Q000032:analysis; D008074:Lipoproteins / Q000032:analysis / Q000378:metabolism*; D008099:Liver / Q000737:chemistry; D009154:Mutation; D040641:Quantitative Trait Loci; D034421:Sus scrofa / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D005227:Fatty Acids; D008074:Lipoproteins; C106092:microsomal triglyceride transfer protein