Integrative analysis of tissue-specific methylation and alternative splicing identifies conserved transcription factor binding motifs

Nucleic Acids Res. 2013 Oct;41(18):8503-14. doi: 10.1093/nar/gkt652. Epub 2013 Jul 24.

Abstract

The exact role of intragenic DNA methylation in regulating tissue-specific gene regulation is unclear. Recently, the DNA-binding protein CTCF has been shown to participate in the regulation of alternative splicing in a DNA methylation-dependent manner. To globally evaluate the relationship between DNA methylation and tissue-specific alternative splicing, we performed genome-wide DNA methylation profiling of mouse retina and brain. In protein-coding genes, tissue-specific differentially methylated regions (T-DMRs) were preferentially located in exons and introns. Gene ontology and evolutionary conservation analysis suggest that these T-DMRs are likely to be biologically relevant. More than 14% of alternatively spliced genes were associated with a T-DMR. T-DMR-associated genes were enriched for developmental genes, suggesting that a specific set of alternatively spliced genes may be regulated through DNA methylation. Novel DNA sequences motifs overrepresented in T-DMRs were identified as being associated with positive and/or negative regulation of alternative splicing in a position-dependent context. The majority of these evolutionarily conserved motifs contain a CpG dinucleotide. Some transcription factors, which recognize these motifs, are known to be involved in splicing. Our results suggest that DNA methylation-dependent alternative splicing is widespread and lay the foundation for further mechanistic studies of the role of DNA methylation in tissue-specific splicing regulation.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing*
  • Animals
  • Base Sequence
  • Binding Sites
  • Brain / metabolism
  • Conserved Sequence
  • DNA / chemistry*
  • DNA Methylation*
  • Evolution, Molecular
  • Exons
  • Introns
  • Mice
  • Mice, Inbred C57BL
  • Nucleotide Motifs
  • Organ Specificity
  • Proteins / genetics
  • Regulatory Sequences, Nucleic Acid*
  • Retina / metabolism
  • Transcription Factors / metabolism*

Substances

  • Proteins
  • Transcription Factors
  • DNA

Associated data

  • GEO/GSE46683