Repository logo
 

Combined single-cell profiling of expression and DNA methylation reveals splicing regulation and heterogeneity.

Published version
Peer-reviewed

Type

Article

Change log

Authors

Linker, Stephanie M 
Urban, Lara 
Clark, Stephen J 
Chhatriwala, Mariya 
Amatya, Shradha 

Abstract

BACKGROUND: Alternative splicing is a key regulatory mechanism in eukaryotic cells and increases the effective number of functionally distinct gene products. Using bulk RNA sequencing, splicing variation has been studied across human tissues and in genetically diverse populations. This has identified disease-relevant splicing events, as well as associations between splicing and genomic features, including sequence composition and conservation. However, variability in splicing between single cells from the same tissue or cell type and its determinants remains poorly understood. RESULTS: We applied parallel DNA methylation and transcriptome sequencing to differentiating human induced pluripotent stem cells to characterize splicing variation (exon skipping) and its determinants. Our results show that variation in single-cell splicing can be accurately predicted based on local sequence composition and genomic features. We observe moderate but consistent contributions from local DNA methylation profiles to splicing variation across cells. A combined model that is built based on genomic features as well as DNA methylation information accurately predicts different splicing modes of individual cassette exons. These categories include the conventional inclusion and exclusion patterns, but also more subtle modes of cell-to-cell variation in splicing. Finally, we identified and characterized associations between DNA methylation and splicing changes during cell differentiation. CONCLUSIONS: Our study yields new insights into alternative splicing at the single-cell level and reveals a previously underappreciated link between DNA methylation variation and splicing.

Description

Keywords

Alternative splicing, Cell differentiation, DNA methylation, Multi-omics, Single-cell analysis, Splicing prediction, Alternative Splicing, Cell Differentiation, DNA Methylation, Humans, Induced Pluripotent Stem Cells, Single-Cell Analysis

Journal Title

Genome Biol

Conference Name

Journal ISSN

1474-7596
1474-760X

Volume Title

20

Publisher

Springer Science and Business Media LLC
Sponsorship
Engineering and Physical Sciences Research Council (TS/H001220/1)
Wellcome Trust (098503/B/12/Z)
Medical Research Council (MC_PC_12009)
National Centre for the Replacement Refinement and Reduction of Animals in Research (NC/N001540/1)
European Research Council (741707)
Relationships
Is derived from: