Piórkowska Katarzyna, Żukowski Kacper, Ropka-Molik Katarzyna, Tyra Mirosław
Department of Animal Molecular Biology, National Research Institute of Animal Production, 32-083 Balice, Poland.
Department of Pig Genetics and Breeding, National Research Institute of Animal Production, 32-083 Balice, Poland.
Gene. 2018 Mar 20;647:268-275. doi: 10.1016/j.gene.2018.01.045. Epub 2018 Jan 12.
The present study shows the characterization of the chromosome 15 (SSC15) region that is highly rich in quantitative traits loci (QTLs) associated with pork quality, growth performance, fat and meat carcass contents. The analytic method that was utilized included targeted enrichment DNA sequencing and RNA hybridisation probes. The research included two pig breeds (Puławska and Polish Landrace) that are significantly different in terms of carcass and meat quality features. Filtered sequences were aligned to the Sscrofa10.2 assembly genome with the STAR aligner and GATK HaplotypeCaller was used for identified gene variants in SSC15 region. In Puławska pigs, which were characterized by high meat quality, mutations were predominantly observed in non-coding regions such as introns and intergenic regions. The highest over 50% frequencies of alternate alleles were identified in the introns of TNS1, VIL1 and USP37 genes. In the upstream gene regions of the Polish Landrace pigs, were observed more mutations than in the upstream gene regions of Puławska. The present study showed interesting gene variant panel that could be analyzed in the further association studies in order to understand the impact on important productive pig traits.
本研究展示了15号染色体（SSC15）区域的特征，该区域富含与猪肉品质、生长性能、脂肪和胴体肉含量相关的数量性状基因座（QTL）。所采用的分析方法包括靶向富集DNA测序和RNA杂交探针。该研究涵盖了两个猪品种（普瓦夫斯卡猪和波兰大白猪），它们在胴体和肉质特征方面存在显著差异。使用STAR比对器将过滤后的序列与Sscrofa10.2组装基因组进行比对，并使用GATK HaplotypeCaller来识别SSC15区域中的基因变异。在肉质优良的普瓦夫斯卡猪中，突变主要出现在非编码区域，如内含子和基因间区域。在TNS1、VIL1和USP37基因的内含子中，鉴定出了超过50%的最高等位基因频率。在波兰大白猪的上游基因区域中，观察到的突变比普瓦夫斯卡猪的上游基因区域更多。本研究展示了有趣的基因变异组，可在进一步的关联研究中进行分析，以了解其对猪重要生产性状的影响。
