Department of Animal Molecular Biology, National Research Institute of Animal Production, Balice, Poland.
Department of Horse Breeding, University of Agriculture in Kraków, al. Kraków, Poland.
PLoS One. 2019 Jan 30;14(1):e0210751. doi: 10.1371/journal.pone.0210751. eCollection 2019.
The genetic differentiation of the current horse population was evolutionarily created by natural or artificial selection which shaped the genomes of individual breeds in several unique ways. The availability of high throughput genotyping methods created the opportunity to study this genetic variation on a genome-wide level allowing detection of genome regions divergently selected between separate breeds as well as among different horse types sharing similar phenotypic features. In this study, we used the population differentiation index (FST) that is generally used for measuring locus-specific allele frequencies variation between populations, to detect selection signatures among six horse breeds maintained in Poland. These breeds can be classified into three major categories, including light, draft and primitive horses, selected mainly in terms of type (utility), exterior, performance, size, coat color and appearance. The analysis of the most pronounced selection signals found in this study allowed us to detect several genomic regions and genes connected with processes potentially important for breed phenotypic differentiation and associated with energy homeostasis during physical effort, heart functioning, fertility, disease resistance and motor coordination. Our results also confirmed previously described association of loci on ECA3 (spanning LCORL and NCAPG genes) and ECA11 (spanning LASP1 gene) with the regulation of body size in our draft and primitive (small size) horses. The efficiency of the applied FST-based approach was also confirmed by the identification of a robust selection signal in the blue dun colored Polish Konik horses at the locus of TBX3 gene, which was previously shown to be responsible for dun coat color dilution in other horse breeds. FST-based method showed to be efficient in detection of diversifying selection signatures in the analyzed horse breeds. Especially pronounced signals were observed at the loci responsible for fixed breed-specific features. Several candidate genes under selection were proposed in this study for traits selected in separate breeds and horse types, however, further functional and comparative studies are needed to confirm and explain their effect on the observed genetic diversity of the horse breeds.
当前马种群的遗传分化是由自然或人工选择进化产生的,这些选择以几种独特的方式塑造了各个品种的基因组。高通量基因分型方法的出现为在全基因组水平上研究这种遗传变异提供了机会,使得能够检测到不同品种之间以及具有相似表型特征的不同马类型之间差异选择的基因组区域。在这项研究中,我们使用了种群分化指数(FST),通常用于测量种群之间特定基因座等位基因频率的变异,以检测在波兰饲养的六个马品种之间的选择信号。这些品种可以分为三大类,包括轻型马、重型马和原始马,主要根据类型(用途)、外貌、性能、体型、毛色和外观进行选择。对本研究中发现的最显著选择信号的分析使我们能够检测到几个与潜在重要的过程相关的基因组区域和基因,这些过程与品种表型分化以及在体力劳动、心脏功能、生育能力、疾病抵抗力和运动协调期间的能量平衡有关。我们的研究结果还证实了先前描述的 ECA3 (包含 LCORL 和 NCAPG 基因)和 ECA11 (包含 LASP1 基因)上的基因座与我们的重型马和原始马(体型较小)的体型调节有关。应用基于 FST 的方法的效率也通过在波兰 Konik 马的蓝色淡色基因座上鉴定出一个稳健的选择信号得到了证实,该基因座先前被证明负责其他马品种的淡色毛色稀释。基于 FST 的方法在检测分析的马品种中的多样化选择信号方面显示出了效率。在负责固定品种特异性特征的基因座上观察到了特别明显的信号。在本研究中,针对不同品种和马类型选择的性状,提出了几个候选受选择基因,但需要进一步的功能和比较研究来证实和解释它们对马品种遗传多样性的影响。