Wang Kun, Cao Kan, Hannenhalli Sridhar
Center for Bioinformatics and Computational Biology, University of Maryland.
Cell Biology Molecular Genetics, University of Maryland.
ACM BCB. 2015 Sep;2015:345-354. doi: 10.1145/2808719.2808755.
Alternative splicing significantly contributes to proteomic diversity and mis-regulation of splicing can cause diseases in human. Although both genomic and chromatin features have been shown to associate with splicing, the mechanisms by which various chromatin marks influence splicing is not clear for the most part. Moreover, it is not known whether the influence of specific genomic features on splicing is potentially modulated by the chromatin context. Here we report a deep neural network (DNN) model for predicting exon inclusion based on comprehensive genomic and chromatin features. Our analysis in three cell lines shows that, while both genomic and chromatin features can predict splicing to varying degrees, genomic features are the primary drivers of splicing, and the predictive power of chromatin features can largely be explained by their correlation with genomic features; chromatin features do not yield substantial independent contribution to splicing predictability. However, our model identified specific interactions between chromatin and genomic features suggesting that the effect of genomic elements may be modulated by chromatin context.
可变剪接对蛋白质组多样性有显著贡献,剪接失调会导致人类疾病。尽管基因组和染色质特征都已被证明与剪接相关,但在很大程度上,各种染色质标记影响剪接的机制尚不清楚。此外,尚不清楚特定基因组特征对剪接的影响是否可能受到染色质环境的调节。在此,我们报告了一种基于综合基因组和染色质特征预测外显子包含的深度神经网络(DNN)模型。我们在三种细胞系中的分析表明,虽然基因组和染色质特征都能不同程度地预测剪接,但基因组特征是剪接的主要驱动因素,染色质特征的预测能力在很大程度上可以通过它们与基因组特征的相关性来解释;染色质特征对剪接可预测性没有实质性的独立贡献。然而,我们的模型确定了染色质与基因组特征之间的特定相互作用,这表明基因组元件的作用可能受到染色质环境的调节。