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J Ocul Biol Dis Infor. 2011 Sep;4(3):121-36. doi: 10.1007/s12177-012-9083-0. Epub 2012 Mar 29.

Epigenetic regulation of retinal development and disease.

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  • 1Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, 660 South Euclid Ave, Campus Box 8096, St. Louis, MO 63110 USA.


Epigenetic regulation, including DNA methylation, histone modifications, and chromosomal organization, is emerging as a new layer of transcriptional regulation in retinal development and maintenance. Guided by intrinsic transcription factors and extrinsic signaling molecules, epigenetic regulation can activate and/or repress the expression of specific sets of genes, therefore playing an important role in retinal cell fate specification and terminal differentiation during development as well as maintaining cell function and survival in adults. Here, we review the major findings that have linked these mechanisms to the development and maintenance of retinal structure and function, with a focus on ganglion cells and photoreceptors. The mechanisms of epigenetic regulation are highly complex and vary among different cell types. Understanding the basic principles of these mechanisms and their regulatory pathways may provide new insight into the pathogenesis of retinal diseases associated with transcription dysregulation, and new therapeutic strategies for treatment.


Cell type-specific transcription; Chromatin modifications; Neuronal development and disease

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