Piórkowska Katarzyna, Sroka Julia, Żukowski Kacper, Zygmunt Karolina, Ropka-Molik Katarzyna, Tyra Mirosław
Department of Animal Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland.
Department of Biotechnology and Horticulture, University of Agricultural in Kraków, 29-go Listopada 54, 31-425 Kraków, Poland.
Animals (Basel). 2023 Feb 12;13(4):641. doi: 10.3390/ani13040641.
encodes seipin, a transmembrane endoplasmic reticulum protein associated with lipodystrophy and severe metabolic complications, including diabetes and hepatic steatosis. In pigs, expression increases during adipocyte differentiation. In the present study, we identified significant gene variants associated with fat deposition (FD)-related processes based on subcutaneous fat tissue RNA-seq data. In the association study, to prove our hypothesis, three Polish pig breeds were included: Złotnicka White (ZW, = 72), Polish Landrace (PL, = 201), and Polish Large White (PLW, = 169). Based on variant calling analysis and χ tests, mutations showing significantly different genotype/allele distribution between high- and low-fat pigs were selected for a comprehensive association study. Four interesting variants (rs346079334, rs341493267, rs330154033, and rs81333153) belonging to downstream and missense mutations were investigated. Our study showed a significant decrease in minor allele frequency for two variants (rs346079334 and rs341493267) in PL pigs in 2020-2021. In ZW, mutations significantly affected loin and ham fats, meat redness, and growth performance traits, such as feed conversion and daily feed intake. Similar observations were noted for PLW and PL, where mutations influenced fat depositions and meat traits, such as loin eye area, loin mass and fat, carcass yield, and growth performance traits. Based on the observation in pigs, our study supports the theory that expressed in subcutaneous fat is involved in the FD process.
编码seipin，一种与脂肪营养不良及严重代谢并发症（包括糖尿病和肝脂肪变性）相关的跨膜内质网蛋白。在猪中，其表达在脂肪细胞分化过程中增加。在本研究中，我们基于皮下脂肪组织RNA测序数据鉴定了与脂肪沉积（FD）相关过程的显著基因变异。在关联研究中，为验证我们的假设，纳入了三个波兰猪品种：兹洛特尼察白猪（ZW，n = 72）、波兰长白猪（PL，n = 201）和波兰大白猪（PLW，n = 169）。基于变异检测分析和χ检验，选择在高脂肪和低脂肪猪之间基因型/等位基因分布存在显著差异的突变进行全面关联研究。研究了四个属于下游和错义突变的有趣变异（rs346079334、rs341493267、rs330154033和rs81333153）。我们的研究表明，2020 - 2021年PL猪中两个变异（rs346079334和rs341493267）的次要等位基因频率显著降低。在ZW猪中，突变显著影响腰部和后腿脂肪、肉色以及生长性能性状，如饲料转化率和日采食量。在PLW和PL猪中也观察到类似情况，突变影响脂肪沉积和肉质性状，如眼肌面积、腰部质量和脂肪、胴体产量以及生长性能性状。基于在猪中的观察结果，我们的研究支持皮下脂肪中表达的该基因参与FD过程这一理论。
