Department of Agro-Food Science and Technology, Sezione di Allevamenti Zootecnici, Faculty of Agriculture, University of Bologna, Viale Fanin 48, 40127, Bologna, Italy.
Anim Genet. 2013 Feb;44(1):96-100. doi: 10.1111/j.1365-2052.2012.02352.x. Epub 2012 Mar 23.
A large number of studies have confirmed that variants within the fat mass and obesity-associated (FTO) gene are associated with higher obesity risk in humans. We and others have shown that FTO polymorphisms are associated with fat deposition and related traits in several pig populations, thus confirming the role of this gene in fatness across species. However, some differences observed in different pig populations may be derived, at least in part, from genetic heterogeneity at this locus. Here, we characterise the nucleotide variability and haplotype diversity of the porcine FTO gene in breeds having different predispositions to fat deposition traits. We resequenced 4749 bp of coding and non-coding regions of the porcine FTO gene in 44 pigs of eight different breeds and identified 27 single nucleotide polymorphisms (SNPs) and four insertions/deletions. A positive Tajima's D-value (P < 0.10) obtained in Italian Duroc pigs may be compatible with putative balancing selection. From the sequenced pig panel, 20 haplotypes were inferred, some of which clustered according to the breed of origin (Meishan and Italian Duroc). Genetic heterogeneity at this locus could complicate the dissection of the effects of this gene on fat deposition and production traits in pigs. This situation resembles, to some extent, what has been reported in humans, thus making the study of the porcine FTO gene variability especially interesting, as it could be used as a model to understand the complex and elusive role of this gene in human obesity.
大量研究证实，脂肪量和肥胖相关（FTO）基因内的变异与人类更高的肥胖风险相关。我们和其他人已经表明，FTO 多态性与几种猪群体中的脂肪沉积和相关特征相关，从而证实了该基因在物种间肥胖中的作用。然而，在不同猪群体中观察到的一些差异可能至少部分源自该基因座的遗传异质性。在这里，我们描述了具有不同脂肪沉积特征倾向的品种中猪 FTO 基因的核苷酸变异性和单倍型多样性。我们在 8 个不同品种的 44 头猪中重新测序了猪 FTO 基因的 4749 个核苷酸的编码和非编码区，确定了 27 个单核苷酸多态性（SNP）和 4 个插入/缺失。在意大利杜洛克猪中获得的正 Tajima's D 值（P < 0.10）可能与假设的平衡选择兼容。从测序的猪面板中推断出 20 种单倍型，其中一些根据起源品种聚类（梅山和意大利杜洛克）。该基因座的遗传异质性可能会使该基因对猪脂肪沉积和生产特征的影响复杂化。这种情况在某种程度上类似于人类的情况，因此研究猪 FTO 基因的变异性尤其有趣，因为它可以作为理解该基因在人类肥胖中的复杂和难以捉摸的作用的模型。
