title: Novel SNPs and INDEL polymorphisms in the 3'UTR of DGAT1 gene: in silico analyses and a possible association.
abstract: Diacylglycerol-O-acyltransferase (DGAT1) gene encodes the rate-limiting enzyme of triglyceride synthesis. A polymorphism in this gene, DGAT1 K232A, has been associated with milk production and composition in taurine breeds. However, this polymorphism is not a good tool for ascertaining the effects of this QTL in Bos indicus (Zebu), since the frequency of the DGAT1 232A allele is too low in these breeds. We sequenced the 3'-untranslated region of DGAT1 gene in a sample of bulls of the breeds Guzerá (Bos indicus) and Holstein (Bos taurus) and, using in silico analysis, we searched for genetic variation, evolutionary conservation, regulatory elements, and possible substitution effects. Six single nucleotide (SNPs) and one insertion-deletion (INDEL) polymorphisms were found in the Guzerá bulls. Additionally, we developed a preliminary association study, using this INDEL polymorphism as a genetic marker. A significant association was detected (P ≤ 0.05) between the INDEL (DGAT1 3'UTR INDEL) and the breeding values (BV) for protein, fat, and milk yields over a 305-day lactation period. The DGAT1 3' UTR INDEL genotype I/I (I, for insertion) was associated with lower BVs (-38.77 kg for milk, -1.86 kg for fat, and -1.48 kg for protein yields), when compared to the genotype I/D (D, for deletion). I/D genotype was lower D/D genotype (-34.98 kg milk, -1.73 kg fat, and -1.09 kg protein yields). This study reports the first polymorphism of DGAT1 3'UTR in the Guzerá breed, as well as its association with BV for milk protein, fat, and milk yields.
authors.affiliation: Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Av. Antônio Carlos, 6627, Belo Horizonte, MG, 31.270-901, Brazil.
authors.forename: Izinara da Cruz
authors.initials: Ida C
authors.lastname: Rosse
authors.forename: Raphael da Silva
authors.initials: Rda S
authors.lastname: Steinberg
authors.forename: Roney Santos
authors.initials: RS
authors.lastname: Coimbra
authors.forename: Maria Gabriela Campolina Diniz
authors.initials: MG
authors.lastname: Peixoto
authors.forename: Rui Silva
authors.initials: RS
authors.lastname: Verneque
authors.forename: Marco Antonio
authors.initials: MA
authors.lastname: Machado
authors.forename: Cleusa Graça
authors.initials: CG
authors.lastname: Fonseca
authors.forename: Maria Raquel Santos
authors.initials: MR
authors.lastname: Carvalho
mesh_terms: D020413:3' Untranslated Regions; D000818:Animals; D001947:Breeding; D002417:Cattle; D003198:Computer Simulation; D051048:Diacylglycerol O-Acyltransferase / Q000235:genetics* / Q000378:metabolism; D005260:Female; D015870:Gene Expression; D005838:Genotype; D006017:Glycolipids / Q000096:biosynthesis / Q000235:genetics; D006023:Glycoproteins / Q000096:biosynthesis / Q000235:genetics; D054643:INDEL Mutation; D007774:Lactation / Q000235:genetics*; D066292:Lipid Droplets; D008297:Male; D008892:Milk / Q000737:chemistry; D008894:Milk Proteins / Q000096:biosynthesis / Q000235:genetics; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide; D019655:Quantitative Trait, Heritable
chemical_list: D020413:3' Untranslated Regions; D006017:Glycolipids; D006023:Glycoproteins; D008894:Milk Proteins; C110367:milk fat globule; D051048:Diacylglycerol O-Acyltransferase