The role of variant (v)U1 snRNAs in development and disease.

我们细胞内基因的表达是根据组织类型和发育阶段严格控制的。例如，在胚胎发育的早期阶段需要产物的基因的表达，而不是在成年细胞中，只有在适当的时候才能打开和关闭。有许多机制参与调节基因表达的开启或关闭，我们最近发现了这些过程中的一组新参与者-变体U1 snRNPs。这些新型复合物含有核酸、RNA和蛋白质，有迹象表明，这些复合物成分的错误调节与一些神经退行性疾病（包括脊髓性肌萎缩症（SMA））和一些癌症（包括威尔姆斯瘤）有关。利用最新的实验技术，我们的目标是充分表征这些复合物的组成，并确定它们调节的基因。这是了解这些复合物在人类细胞中发挥确切作用以及RNA或蛋白质的错误调节如何导致疾病的关键一步。我们研究的长期目标是开发治疗方法，以对抗与这些复合物调控不当相关的疾病。

The expression of the genes within our cells is strictly controlled according to the type of tissue and stage of development. For example, expression of genes whose products are needed at early stages of the development of embryos but not in adult cells will be switched on and off only at the right time. There are many mechanisms involved in regulating the switching on or off of gene expression and we have recently uncovered a new set of players in these processes-the variant U1 snRNPs. These novel complexes contain the nucleic acid, RNA together with proteins and there are indications that mis-regulation of the components of these complexes is associated with some neurodegenerative disease, including Spinal Muscular Atrophy (SMA) and some cancers, including Wilms' Tumour. Using the latest experimental techniques, we aim to fully characterise the composition of these complexes and identify which genes they regulate. This is a critical step towards understanding the exact roles these complexes play in human cells and how mis-regulation of the RNA or proteins could cause disease. The long-term goal of our studies is to develop therapies to combat the diseases associated with mis-regulation of these complexes.