Chen Cai, Wang Mengli, Zheng Yao, Liu Ziyan, Azele Phiri, Saleh Ahmed A, Wang Xiaoyan, Song Chengyi
College of Animal Science and Technology, Yangzhou University, Yangzhou, China.
International Joint Research Laboratory in Universities of Jiangsu Province of China for Domestic Animal Germplasm Resources and Genetic Improvement, Yangzhou, China.
J Appl Genet. 2025 Jan 2. doi: 10.1007/s13353-024-00933-5.
In our previous study, we identified a Short Interspersed Nuclear Element Retrotransposon Insertion Polymorphism (SINE-RIP) within the 3' untranslated region (3'UTR) of the Phospholipase A2 Group XVI (PLA2G16) gene, which is essential in lipid metabolism. In this study, we confirmed the presence of this 280 bp SINE insertion and examined its distribution across ten distinct pig breeds using PCR and sequencing. Subsequently, RT-PCR was employed to determine its potential for co-transcription. Finally, qPCR analysis was performed to evaluate the insertion's effect on PLA2G16 expression. The results indicated significant polymorphism at this site among different breeds. The SINE insertion can co-transcribe with PLA2G16 and shows a tissue-specific relationship with its expression in backfat and liver. Specifically, in Sujiang and Mi pigs, individuals homozygous for the SINE insertion (SINE) demonstrated significantly lower PLA2G16 expression (p < 0.01) in backfat compared to those without the insertion (SINE). Conversely, in Sujiang pigs, SINE individuals exhibited significantly higher expression (p < 0.05) in the liver compared to SINE counterparts. These findings suggest that the SINE insertion in the 3'UTR of PLA2G16 can fuse with the target gene, forming a new transcript that may affect gene expression levels in a tissue-specific manner.
在我们之前的研究中，我们在磷脂酶A2第XVI组（PLA2G16）基因的3'非翻译区（3'UTR）中鉴定出一种短散在核元件反转录转座子插入多态性（SINE-RIP），该基因在脂质代谢中至关重要。在本研究中，我们证实了这种280 bp SINE插入的存在，并使用PCR和测序检查了其在十个不同猪品种中的分布。随后，采用RT-PCR来确定其共转录的可能性。最后，进行qPCR分析以评估该插入对PLA2G16表达的影响。结果表明，不同品种在该位点存在显著的多态性。SINE插入可以与PLA2G16共转录，并与其在背膘和肝脏中的表达呈现组织特异性关系。具体而言，在苏姜猪和米猪中，SINE插入纯合个体（SINE）在背膘中的PLA2G16表达明显低于无插入个体（SINE）（p < 0.01）。相反，在苏姜猪中，SINE个体在肝脏中的表达明显高于SINE对应个体（p < 0.05）。这些发现表明，PLA2G16基因3'UTR中的SINE插入可以与靶基因融合，形成一个新的转录本，可能以组织特异性方式影响基因表达水平。
