An Association Study of DNA Methylation and Gene Expression in Angelman Syndrome: A Bioinformatics Approach

Julia Panov, Hanoch Kaphzan

Research output: Contribution to journalArticlepeer-review


Angelman syndrome (AS) is a neurodevelopmental disorder caused by the loss of function of the E3-ligase UBE3A. Despite multiple studies, AS pathophysiology is still obscure and has mostly been explored in rodent models of the disease. In recent years, a growing body of studies has utilized omics datasets in the attempt to focus research regarding the pathophysiology of AS. Here, for the first time, we utilized a multi-omics approach at the epigenomic level and the transcriptome level, for human-derived neurons. Using publicly available datasets for DNA methylation and gene expression, we found genome regions in proximity to gene promoters and intersecting with gene-body regions that were differentially methylated and differentially expressed in AS. We found that overall, the genome in AS postmortem brain tissue was hypo-methylated compared to healthy controls. We also found more upregulated genes than downregulated genes in AS. Many of these dysregulated genes in neurons obtained from AS patients are known to be critical for neuronal development and synaptic functioning. Taken together, our results suggest a list of dysregulated genes that may be involved in AS development and its pathological features. Moreover, these genes might also have a role in neurodevelopmental disorders similar to AS.

Original languageEnglish
Article number9139
JournalInternational Journal of Molecular Sciences
Issue number16
StatePublished - 15 Aug 2022

Bibliographical note

Publisher Copyright:
© 2022 by the authors.


  • Angelman syndrome
  • DNA methylation
  • RNA-seq
  • bisulfite-seq
  • multi-omics
  • transcriptome

ASJC Scopus subject areas

  • Catalysis
  • Molecular Biology
  • Spectroscopy
  • Computer Science Applications
  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Inorganic Chemistry


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