Nucleotide variability of the porcine SERPINA6 gene and the origin of a putative causal mutation associated with meat quality

Nucleotide variability of the porcine SERPINA6 gene and the origin of a putative causal mutation associated with meat quality
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DOI:
10.1111/j.1365-2052.2010.02138.x
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发表时间:
2011-06-01
期刊:
影响因子:
2.4
通讯作者:
Perez-Enciso, M.
Perez-Enciso, M.
中科院分区:
生物学3区
文献类型:
--
作者:
Esteve, A.;Ojeda, A.;Perez-Enciso, M.

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丝氨酸蛋白酶抑制剂肽酶抑制剂,进化枝A,成员6基因(SERPINA6),也称为皮质类固醇结合球蛋白或CBG,参与肥胖和应激敏感性。先前的研究报告了猪物种中该基因内的假定因果突变。为了表征一个假设的选择性足迹,我们已经重新测序约6 kb的编码和非编码片段在20头猪,包括国内品种和野猪从亚洲和欧洲。亚洲猪种的核苷酸变异性远大于欧洲猪种(分别为pi = 1%和0.05%),这与猪的进化史一致。与肉质(滴水损失)相关的假定的致病氨基酸取代p.Gly307Arg(SNP c.919G > A)仅在欧洲家猪品种中检测到,表明在欧洲驯化后出现的最近突变。没有支持阳性选择被检测到,因为没有减少周围的突变的多样性水平被发现在瘦肉品种相对于野猪。
The serpin peptidase inhibitor, clade A, member 6 gene (SERPINA6), also known as corticosteroid-binding globulin or CBG, is involved in obesity and stress sensitivity. Previous studies have reported putative causal mutations within that gene in the porcine species. To characterize a hypothetical selective footprint, we have resequenced approximately 6 kb of coding and non-coding fragments in 20 pigs comprising domestic breeds and wild boars from Asia and Europe. Nucleotide variability was found to be far greater within Asian pig breeds than European breeds (pi = 1% vs. 0.05%, respectively), which is consistent with pig evolutionary history. The putative causal amino acid substitution p.Gly307Arg (SNP c.919G > A) associated with meat quality (drip loss) was only detected in European domestic pig breeds, suggesting a very recent mutation that appeared after domestication in Europe. No support for positive selection was detected, as no reduction in levels of diversity surrounding the mutation was found in lean breeds with respect to wild boar.