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探讨二酰基甘油 O-酰基转移酶 1(DGAT1)基因的新型单核苷酸多态性和单倍型及其对伊朗水牛蛋白质结构的影响。

Exploring novel single nucleotide polymorphisms and haplotypes of the diacylglycerol O-acyltransferase 1 (DGAT1) gene and their effects on protein structure in Iranian buffalo.

机构信息

Department of Animal Science, University College of Agriculture and Natural Resources, University of Tehran, P.O. Box 4111, Karaj, 31587-11167, Iran.

Department of Animal Biotechnology, Graduate School of Future Convergence Technology, Hankyong National University, Joongang-Ro 327, Ansung, Kyeonggi-Do, 456-749, Korea.

出版信息

Genes Genomics. 2019 Nov;41(11):1265-1271. doi: 10.1007/s13258-019-00854-2. Epub 2019 Aug 6.

DOI:10.1007/s13258-019-00854-2
PMID:31388977
Abstract

BACKGROUND

Diacylglycerol O-acyltransferase 1 (DGAT1) plays a key role in the synthesis of triglycerides. Recent studies have shown that a transition mutation resulting in substitutions of guanine by adenine in the DGAT1 gene in cattle has considerable effects on milk yield and composition. Currently, there is no systematic research reporting on the utilization of this gene segment in Iranian buffalo (Bubalus bubalis).

OBJECTIVE

In this study, the genetic differentiation of three indigenous Iranian buffalo populations was investigated in the region spanning exon 3 to exon 17 of the DGAT1 gene.

METHODS

A total of 200 buffaloes were genotyped, all the samples were sequenced directly in both directions with forward and reverse sequencing primers.

RESULTS

Sequence analysis showed novel SNPs compared to the reference GenBank sequence (DQ886485) at nucleotide positions g.6097A>G, g.7036C>T, g.7338G>A, g.7710C>T, g.8087C>T, g.8259G>A, g.8275G>A, g.8367C>T, and g.8426C>T. No polymorphisms were found within exon 8. Therefore, the K232A position was thought to be a conserved and fixed region for high milk fat content (K allele) in Bos indicus and all buffalo breeds. Comparison with Indian buffalo revealed three exonic SNPs, one of which was nonsynonymous. A unique 22 bp insertion was observed in intron 10 of DGAT1. Linkage disequilibrium analysis allowed the identification of nine haplotypes among the sampled animals. To our knowledge, this is the first report of sequencing analysis of the DGAT1 gene in Iranian buffalo.

CONCLUSION

Our results suggest that genetic diversity exists and could be useful in examining the association between the DGAT1 gene and milk production traits in buffalo.

摘要

背景

二酰基甘油 O-酰基转移酶 1(DGAT1)在甘油三酯的合成中发挥关键作用。最近的研究表明,牛的 DGAT1 基因中由于腺嘌呤取代鸟嘌呤而导致的转换突变对产奶量和组成有很大的影响。目前,尚无关于该基因片段在伊朗水牛(Bubalus bubalis)中的利用的系统研究报告。

目的

本研究旨在研究 DGAT1 基因外显子 3 到外显子 17 区域内三个伊朗本土水牛群体的遗传分化。

方法

共对 200 头水牛进行了基因分型,所有样本均使用正向和反向测序引物直接进行双向测序。

结果

与参考 GenBank 序列(DQ886485)相比,序列分析在核苷酸位置 g.6097A>G、g.7036C>T、g.7338G>A、g.7710C>T、g.8087C>T、g.8259G>A、g.8275G>A、g.8367C>T 和 g.8426C>T 处显示出新型 SNPs。在第 8 外显子中未发现多态性。因此,K232A 位置被认为是印度牛和所有水牛品种高产奶量(K 等位基因)的保守和固定区域。与印度水牛的比较显示出三个外显子 SNP,其中一个为非同义 SNP。在 DGAT1 的内含子 10 中观察到一个独特的 22 bp 插入。连锁不平衡分析鉴定了抽样动物中的九个单倍型。据我们所知,这是首次报道伊朗水牛的 DGAT1 基因测序分析。

结论

我们的研究结果表明,遗传多样性存在,可用于研究 DGAT1 基因与水牛产奶量性状的关联。

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本文引用的文献

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Genet Mol Biol. 2012 Jul;35(3):610-3. doi: 10.1590/S1415-47572012005000043. Epub 2012 Jul 13.
2
Effects of acyl-CoA:diacylglycerol acyl transferase 1 (DGAT1) gene on milk production traits in crossbred Holstein dairy cattle.酰基辅酶A:二酰甘油酰基转移酶1(DGAT1)基因对杂交荷斯坦奶牛产奶性状的影响。
Trop Anim Health Prod. 2012 Apr;44(4):751-5. doi: 10.1007/s11250-011-9959-1. Epub 2011 Sep 1.
3
Y-chromosomal variation confirms independent domestications of swamp and river buffalo.
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Anim Genet. 2010 Aug;41(4):433-5. doi: 10.1111/j.1365-2052.2010.02020.x. Epub 2010 Mar 3.
4
Ovine acyl CoA:diacylglycerol acyltransferase 1- molecular characterization, polymorphisms and association with milk traits.绵羊酰基辅酶 A:二酰基甘油酰基转移酶 1-分子特征、多态性与乳性状的关联。
Anim Genet. 2009 Oct;40(5):737-42. doi: 10.1111/j.1365-2052.2009.01909.x. Epub 2009 May 20.
5
Impact of single nucleotide polymorphisms in leptin, leptin receptor, growth hormone receptor, and diacylglycerol acyltransferase (DGAT1) gene loci on milk production, feed, and body energy traits of UK dairy cows.瘦素、瘦素受体、生长激素受体和二酰基甘油酰基转移酶(DGAT1)基因位点的单核苷酸多态性对英国奶牛产奶量、饲料和体能量性状的影响。
J Dairy Sci. 2008 Aug;91(8):3190-200. doi: 10.3168/jds.2007-0930.
6
Molecular cloning and single nucleotide polymorphism detection of buffalo DGAT1 gene.水牛DGAT1基因的分子克隆与单核苷酸多态性检测
Biochem Genet. 2007 Aug;45(7-8):611-21. doi: 10.1007/s10528-007-9100-3. Epub 2007 Jun 26.
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