title: Identification of a single nucleotide polymorphism at intron 16 of the caprine acyl-coenzyme A: diacylglycerol acyltransferase 1 (DGAT1) gene.
abstract: The DGAT1 gene encodes a microsomal enzyme that catalyses the only committed step in triacylglycerol synthesis by joining diacylglycerol and fatty acyl coenzyme A. In cattle, a K232A substitution in the DGAT1 molecule has a significant effect on enzyme activity and milk fat content. The prominent role of this gene in lipid metabolism led us to undertake the structural characterization of DGAT1 in goats. In this way, we have sequenced a 1552 bp fragment of the goat DGAT1 cDNA, which encompasses most of the coding sequence (from exon 1 to 17), and a genomic fragment covering exons 12 to 17. Multiple alignment of the goat DGAT1 sequences revealed the existence of a single nucleotide polymorphism (SNP) involving a T to C substitution at intron 16. We optimized a primer extension based genotyping method that allowed us to determine that the C variant is a minority allele with frequencies ranging from 0.062 (Murciano-Granadina) to 0.109 (Malagueña). This SNP, although not expected to have any functional effect, might be useful as a genetic marker in association studies to detect additional DGAT1 polymorphisms which might influence fat milk content and other traits of economic interest.
authors.affiliation: Departament de Ciència Animal, Facultat de Veterinària, Universitat Autònoma de Barcelona, Bellaterra 08193, Spain.
authors.forename: Antonella
authors.initials: A
authors.lastname: Angiolillo
authors.forename: Marcel
authors.initials: M
authors.lastname: Amills
authors.forename: Baltasar
authors.initials: B
authors.lastname: Urrutia
authors.forename: Anna
authors.initials: A
authors.lastname: Doménech
authors.forename: Yolanda
authors.initials: Y
authors.lastname: Sastre
authors.forename: Bouabid
authors.initials: B
authors.lastname: Badaoui
authors.forename: Jordi
authors.initials: J
authors.lastname: Jordana
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D051048:Diacylglycerol O-Acyltransferase / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D006041:Goats / Q000235:genetics*; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide
chemical_list: D051048:Diacylglycerol O-Acyltransferase