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Identification of a single nucleotide polymorphism at intron 16 of the caprine Acyl-Coenzyme A: diacylglycerol acyltransferase 1 (DGAT1) gene

Published online by Cambridge University Press:  18 September 2006

Antonella Angiolillo
Affiliation:
Departament de Ciència Animal, Facultat de Veterinària, Universitat Autònoma de Barcelona, Bellaterra 08193, Spain Present address: Dip.Scienze per la Salute, via de Sanctis snc Università del Molise, Campobasso, Italy
Marcel Amills
Affiliation:
Departament de Ciència Animal, Facultat de Veterinària, Universitat Autònoma de Barcelona, Bellaterra 08193, Spain
Baltasar Urrutia
Affiliation:
Instituto Murciano de Investigación y Desarrollo Agrario y Alimentario (IMIDA), Estación Sericícola, La Alberca, Murcia, Spain
Anna Doménech
Affiliation:
Departament de Sanitat i Anatomia Animals, Facultat de Veterinària, Universitat Autònoma de Barcelona, Bellaterra 08193, Spain
Yolanda Sastre
Affiliation:
Departament de Ciència Animal, Facultat de Veterinària, Universitat Autònoma de Barcelona, Bellaterra 08193, Spain
Bouabid Badaoui
Affiliation:
Departament de Ciència Animal, Facultat de Veterinària, Universitat Autònoma de Barcelona, Bellaterra 08193, Spain
Jordi Jordana
Affiliation:
Departament de Ciència Animal, Facultat de Veterinària, Universitat Autònoma de Barcelona, Bellaterra 08193, Spain

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.

Type
Research Article
Copyright
Proprietors of Journal of Dairy Research 2006

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