A non-synonymous mutation in a conserved site of the MTTP gene is strongly associated with protein activity and fatty acid profile in pigs
A non-synonymous mutation in a conserved site of the MTTP gene is strongly associated with protein activity and fatty acid profile in pigs
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DOI：
10.1111/j.1365-2052.2009.01922.x
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发表时间：
2009-12-01
期刊：
影响因子：
2.4
通讯作者：
Folch, J. M.
中科院分区：
文献类型：
--
作者：
Estelle, J.;Fernandez, A. I.;Folch, J. M.
尽管猪的脂肪酸谱具有经济利益，但迄今为止还没有令人信服的基因与这一性状相关。在这里，猪微粒体甘油三酯转移蛋白（MTTP）基因，在新生脂蛋白的组装中起着至关重要的作用，已被分析为影响脂肪酸组成的QTL的位置候选基因，该QTL先前在伊比利亚与长白猪F（2）杂交的8号染色体上被鉴定。通过对一组不同的品种进行重测序，确定了MTTP脂质转移结构域保守残基中的非同义多态性。在F（2）杂交和一个合成的中欧系中，该多态性与猪脂肪的脂肪酸组成有很强的关联，比QTL效应强得多。此外，在肝脏蛋白提取物中的体外活性测定已经表明，该突变也与MTTP蛋白的脂质转移活性相关（P < 0.1）。这些结果表明，检测到的多态性是一个潜在的因果关系的脂肪酸组成QTL。猪MTTP基因型和猪饮食中脂肪来源的类型之间似乎存在相互作用，这与先前关于MTTP生物学的结果一致。
P>Despite the economic interest of the fatty acid profile in pigs, no gene has been convincingly associated with this trait so far. Here, the porcine microsomal triglyceride transfer protein (MTTP) gene, which plays a crucial role in the assembly of nascent lipoproteins, has been analysed as a positional candidate gene for a QTL affecting the fatty acid composition that was previously identified on chromosome 8 in an Iberian by Landrace F(2) cross. By resequencing a panel of different breeds, a non-synonymous polymorphism in a conserved residue of the lipid transfer domain of MTTP was identified. Association analyses with this polymorphism showed a strong association with the fatty acid composition of porcine fat, much stronger than the QTL effect, in the F(2) cross and in a synthetic Sino-European line. In addition, in vitro activity assays in liver protein extracts have shown that this mutation is also associated with the lipid transfer activity of the MTTP protein (P < 0.1). These results suggest that the detected polymorphism is a potential causal factor of the fatty acid composition QTL. There appears to be an interaction between the porcine MTTP genotype and the type of fat source in the pig diet, which would agree with the previous results on the biology of MTTP biology.