CRA-PCM, via Salaria 31, 00016 Monterotondo, Italy.
Anim Genet. 2009 Oct;40(5):737-42. doi: 10.1111/j.1365-2052.2009.01909.x. Epub 2009 May 20.
The objective of this work was to characterize the complete coding region of the ovine acylCoA:diacylglycerol acyltransferase 1 (DGAT1) gene of three Italian sheep breeds: Sarda, Altamurana and Gentile di Puglia. Characterization was accomplished by direct sequencing of 8676 bp of the relevant DNA, including introns and partial 5' and 3' untranslated regions (UTRs). We detected five novel SNPs; one SNP (g.5553C>T) is located in intron 2, has similar frequencies in the three breeds and showed a negative association with milk fat content. More interesting is an SNP in the 5' UTR (g.127C>A), the occurrence of which is rare in the higher milk-fat breeds (Altamurana and Gentile di Puglia); it is located in the core sequence of Sp1, a putative binding site of transcription factors. This SNP showed a significant negative association with milk fat content in the Sarda sheep. Because DGAT1 plays a fundamental role in triacylglycerol synthesis, the novel detected SNP in the 5' UTR of the DGAT1 gene might explain, at least partially, the variation of fat content in the milk of Sarda sheep.
本研究旨在对萨丁岛羊、阿尔塔米拉诺羊和普利亚羊这三个意大利绵羊品种的酰基辅酶 A：二酰基甘油酰基转移酶 1（DGAT1）基因的完整编码区进行鉴定。通过直接对包括内含子和部分 5'和 3'非翻译区（UTR）在内的 8676bp 相关 DNA 进行测序，完成了对 DGAT1 基因的鉴定。我们共发现了 5 个新的 SNP，其中一个 SNP（g.5553C>T）位于内含子 2 中，在三个品种中的频率相似，并与乳脂含量呈负相关。更为有趣的是，5'UTR 中的一个 SNP（g.127C>A）在乳脂含量较高的品种（阿尔塔米拉诺羊和普利亚羊）中发生频率较低，该 SNP 位于 Sp1 的核心序列中，Sp1 是转录因子的一个潜在结合位点。该 SNP 与萨丁岛羊的乳脂含量呈显著负相关。由于 DGAT1 在三酰基甘油合成中起着至关重要的作用，因此在 DGAT1 基因的 5'UTR 中发现的新 SNP 可能至少部分解释了萨丁岛羊乳脂含量的变化。
