title: A missense variant of the porcine melanocortin-4 receptor (MC4R) gene is associated with fatness, growth, and feed intake traits.
abstract: Our knowledge of the genetic factors affecting obesity is increasing, but information about the individual gene effects remains limited in humans as well as in animal models. The melanocortin-4 receptor gene (MC4R) has been implicated in the regulation of feeding behavior and body weight in humans and mice. We have studied MC4R as a candidate gene for the control of economically important growth and performance traits in the pig. A missense mutation was identified in a region highly conserved among melanocortin receptor (MCR) genes. To determine whether there was an association of this MC4R polymorphism with phenotypic variation, we tested the mutation in a large number of individual animals from several different pig lines. Analyses of growth and performance test records showed significant associations of MC4R genotypes with backfat and growth rate in a number of lines as well as feed intake overall. It is probable that the variant amino acid residue of the MC4R mutation (or a closely linked mutation) causes a significant change of the MC4R function. These results support the functional significance of a pig MC4R missense mutation and suggest that comparative genomics based on model species may be equally important for application to farm animals as they are for human medicine.
authors.affiliation: Department of Animal Science, Iowa State University, Ames 50011, USA.
authors.forename: K S
authors.initials: KS
authors.lastname: Kim
authors.forename: N
authors.initials: N
authors.lastname: Larsen
authors.forename: T
authors.initials: T
authors.lastname: Short
authors.forename: G
authors.initials: G
authors.lastname: Plastow
authors.forename: M F
authors.initials: MF
authors.lastname: Rothschild
mesh_terms: D000273:Adipose Tissue / Q000502:physiology*; D000595:Amino Acid Sequence; D000818:Animals; D001835:Body Weight / Q000235:genetics*; D004435:Eating / Q000235:genetics*; D005260:Female; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D017434:Protein Structure, Tertiary; D019655:Quantitative Trait, Heritable; D044105:Receptor, Melanocortin, Type 4; D018000:Receptors, Peptide / Q000235:genetics*; D016415:Sequence Alignment; D013552:Swine / Q000235:genetics* / Q000254:growth & development
chemical_list: D044105:Receptor, Melanocortin, Type 4; D018000:Receptors, Peptide