Epigenetic regulatory mechanisms in vertebrate eye development and disease

A. Cvekl, K. P. Mitton

Research output: Contribution to journalReview articlepeer-review

64 Scopus citations


Eukaryotic DNA is organized as a nucleoprotein polymer termed chromatin with nucleosomes serving as its repetitive architectural units. Cellular differentiation is a dynamic process driven by activation and repression of specific sets of genes, partitioning the genome into transcriptionally active and inactive chromatin domains. Chromatin architecture at individual genes/loci may remain stable through cell divisions, from a single mother cell to its progeny during mitosis, and represents an example of epigenetic phenomena. Epigenetics refers to heritable changes caused by mechanisms distinct from the primary DNA sequence. Recent studies have shown a number of links between chromatin structure, gene expression, extracellular signaling, and cellular differentiation during eye development. This review summarizes recent advances in this field, and the relationship between sequence-specific DNA-binding transcription factors and their roles in recruitment of chromatin remodeling enzymes. In addition, lens and retinal differentiation is accompanied by specific changes in the nucleolar organization, expression of non-coding RNAs, and DNA methylation. Epigenetic regulatory mechanisms in ocular tissues represent exciting areas of research that have opened new avenues for understanding normal eye development, inherited eye diseases and eye diseases related to aging and the environment.

Original languageEnglish (US)
Pages (from-to)135-151
Number of pages17
Issue number1
StatePublished - Jul 2010


  • Chromatin remodeling
  • Eye development
  • Histone acetylation and methylation
  • Lens
  • Retina
  • Transcription factors

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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