BSCL2编码seipin,与脂肪营养不良和严重代谢并发症相关的跨膜内质网蛋白,包括糖尿病和肝性脂肪变性。在猪中,BSCL2表达在脂肪细胞分化期间增加。在本研究中,我们基于皮下脂肪组织RNA-seq数据鉴定了与脂肪沉积(FD)相关过程相关的显著基因变异.在协会研究中,来证明我们的假设,包括三个波兰猪品种:ZswotnickaWhite(ZW,n=72),波兰长白鱼(PL,n=201),和波兰大白色(PLW,n=169)。基于变异调用分析和χ2检验,选择在高脂肪猪和低脂肪猪之间显示显著不同的基因型/等位基因分布的BSCL2突变用于综合关联研究。研究了属于下游和错义突变的四个感兴趣的BSCL2变体(rs346079334、rs341493267、rs330154033和rs81333153)。我们的研究表明,在2020-2021年,PL猪的两个BSCL2变体(rs346079334和rs341493267)的次要等位基因频率显着降低。在ZW,BSCL2突变显着影响腰部和火腿脂肪,肉发红,和生长性能特征,如饲料转化率和每日采食量。PLW和PL也注意到了类似的观察结果,其中BSCL2突变影响脂肪沉积和肉类性状,如腰眼区域,腰部质量和脂肪,car体产量,和生长性能特征。根据对猪的观察,我们的研究支持在皮下脂肪中表达的BSCL2参与FD过程的理论。
BSCL2 encodes seipin, a transmembrane endoplasmic reticulum protein associated with lipodystrophy and severe metabolic complications, including diabetes and hepatic steatosis. In pigs,
BSCL2 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, n = 72), Polish Landrace (PL, n = 201), and Polish Large White (PLW, n = 169). Based on variant calling analysis and χ2 tests, BSCL2 mutations showing significantly different genotype/allele distribution between high- and low-fat pigs were selected for a comprehensive association study. Four interesting
BSCL2 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
BSCL2 variants (rs346079334 and rs341493267) in PL pigs in 2020-2021. In ZW,
BSCL2 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 BSCL2 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 BSCL2 expressed in subcutaneous fat is involved in the FD process.