Novel SNPs and INDEL polymorphisms in the 3%26apos;UTR of DGAT1 gene: in silico analyses and a possible association

作者：Rosse Izinara da Cruz; Steinberg Raphael da Silva; Coimbra Roney Santos; Campolina Diniz Peixoto Maria Gabriela; Verneque Rui Silva; Machado Marco Antonio; Fonseca Cleusa Graca; Santos Carvalho Maria Raquel

来源：Molecular Biology Reports, 2014, 41(7): 4555-4563.

DOI：10.1007/s11033-014-3326-z

• Genetic association study
• Bos indicus
• DGAT1
• 3 %26apos
• Untranslated region

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%26apos;-untranslated region of DGAT1 gene in a sample of bulls of the breeds Guzera (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 Guzera bulls. Additionally, we developed a preliminary association study, using this INDEL polymorphism as a genetic marker. A significant association was detected (P a parts per thousand currency sign 0.05) between the INDEL (DGAT1 3%26apos;UTR INDEL) and the breeding values (BV) for protein, fat, and milk yields over a 305-day lactation period. The DGAT1 3%26apos; 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%26apos;UTR in the Guzera breed, as well as its association with BV for milk protein, fat, and milk yields.

• 出版日期2014-7