Institute of Neuroscience and Psychology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Sir James Black Building, G12 8QQ, Glasgow, UK.
Mol Biol Rep. 2020 Jul;47(7):5127-5136. doi: 10.1007/s11033-020-05584-3. Epub 2020 Jun 24.
Common sequence variations in the VRK2 gene contribute to genetic risk for various psychiatric diseases including schizophrenia and major depressive disorder. Despite the clear importance of studying the regulation and function of VRK2 for understanding the causes of these diseases, the organisation and expression of the gene remain poorly characterised. Using reverse-transcriptase-PCR, we have amplifed exons of Vrk2 mRNA from regions of mouse brain, and from different cell classes comprising neurones, astrocytes and microglial cells. We find that Vrk2 mRNA is expressed in all cell types, and that the splicing of the mouse Vrk2 gene is much more complex than previously appreciated. In addition to the predicted alternative splicing (absence/presence) of the penultimate 3 prime exon, we also detected a variety of 5 prime structures, including two novel exons spanning the first characterised exon (exon 1), which we term exons 1a and 1b. While expressed in neurones and astrocytes, exon 1b was not expressed in microglial cells. Expression of transcripts containing exon 1a in microglia was increased by immune stimulation. An additional truncated transcript lacking 7 central exons was also identified. As with the human gene, the results confirm complex patterns of alternative splicing which are likely to be relevant for understanding the physiological and pathological function of the gene in the CNS.
VRK2 基因中的常见序列变异与各种精神疾病(包括精神分裂症和重度抑郁症)的遗传风险有关。尽管研究 VRK2 的调节和功能对于理解这些疾病的病因非常重要,但该基因的组织和表达仍未得到很好的描述。我们使用逆转录酶 -PCR 从老鼠大脑的不同区域和包括神经元、星形胶质细胞和小胶质细胞在内的不同细胞类型中扩增了 VRK2 mRNA 的外显子。我们发现 VRK2 mRNA 在所有细胞类型中都有表达,并且老鼠 VRK2 基因的剪接比以前认为的要复杂得多。除了最后一个 3'末端外显子的预测选择性剪接(缺失/存在)外,我们还检测到了各种 5'结构,包括跨越第一个特征性外显子(外显子 1)的两个新外显子,我们将其命名为外显子 1a 和 1b。虽然在外显子 1a 表达于神经元和星形胶质细胞中,但在小胶质细胞中不表达外显子 1b。含有外显子 1a 的转录物在小胶质细胞中的表达在免疫刺激时增加。还鉴定了一种缺少 7 个中心外显子的另外的截断转录物。与人类基因一样,结果证实了复杂的选择性剪接模式,这可能与理解该基因在中枢神经系统中的生理和病理功能有关。