title: Short communication: Identification of two polymorphisms in the goat lipoprotein lipase gene and their association with milk production traits.
abstract: Lipoprotein lipase (LPL) is a glycoprotein that plays a central role in plasma triglyceride metabolism by hydrolyzing triglyceride-rich chylomicrons and very low density lipoproteins. The activity of milk LPL has been shown to differ among several goat breeds, suggesting the existence of a genetic polymorphism influencing the functional properties of this enzyme. We have characterized the complete coding sequence of the goat LPL gene in 18 individuals belonging to 3 breeds. The coding region of the goat LPL cDNA was 1,437 bp long and encoded a protein of 478 amino acids. Moreover, we have identified 2 single nucleotide polymorphisms (SNP) including a G50C missense mutation, which involved a Ser-->Thr amino acid replacement at position 17 of the signal peptide, and a C2094T substitution in the 3' untranslated region. A univariate mixed model was used to evaluate the association between LPL genotypes and milk production and composition in 130 Murciano-Granadina goats. The G50C SNP was suggestively associated with milk fat content and tended to affect the milk dry weight basis. The C2094T SNP was not associated with any of the measured traits.
authors.affiliation: Departament de Ciència Animal, Facultat de Veterinària, Universitat Autónoma de Barcelona, Bellaterra 08193, Spain.
authors.forename: B
authors.initials: B
authors.lastname: Badaoui
authors.forename: J M
authors.initials: JM
authors.lastname: Serradilla
authors.forename: A
authors.initials: A
authors.lastname: Tomàs
authors.forename: B
authors.initials: B
authors.lastname: Urrutia
authors.forename: J L
authors.initials: JL
authors.lastname: Ares
authors.forename: J
authors.initials: J
authors.lastname: Carrizosa
authors.forename: A
authors.initials: A
authors.lastname: Sànchez
authors.forename: J
authors.initials: J
authors.lastname: Jordana
authors.forename: M
authors.initials: M
authors.lastname: Amills
mesh_terms: D020413:3' Untranslated Regions; D000595:Amino Acid Sequence; D000818:Animals; D005260:Female; D006017:Glycolipids / Q000032:analysis / Q000378:metabolism; D006023:Glycoproteins / Q000032:analysis / Q000378:metabolism; D006041:Goats / Q000235:genetics*; D007774:Lactation / Q000235:genetics*; D066292:Lipid Droplets; D008071:Lipoprotein Lipase / Q000235:genetics*; D008892:Milk / Q000737:chemistry* / Q000378:metabolism; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide
chemical_list: D020413:3' Untranslated Regions; D006017:Glycolipids; D006023:Glycoproteins; C110367:milk fat globule; D008071:Lipoprotein Lipase