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Sci Rep. 2018 Feb 14;8(1):3040. doi: 10.1038/s41598-018-21104-7.

Complete Transcriptome Profiling of Normal and Age-Related Macular Degeneration Eye Tissues Reveals Dysregulation of Anti-Sense Transcription.

Author information

1
Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
2
Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
3
Department of Ophthalmology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
4
Functional Genomics Lab, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
5
Department of Ophthalmology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA. vchavali@pennmedicine.upenn.edu.
6
Functional Genomics Lab, University of Pennsylvania, Philadelphia, Pennsylvania, USA. vchavali@pennmedicine.upenn.edu.

Abstract

Age-related macular degeneration (AMD) predominantly affects the retina and retinal pigment epithelium in the posterior eye. While there are numerous studies investigating the non-coding transcriptome of retina and RPE, few significant differences between AMD and normal tissues have been reported. Strand specific RNA sequencing of both peripheral retina (PR) and RPE-Choroid-Sclera (PRCS), in both AMD and matched normal controls were generated. The transcriptome analysis reveals a highly significant and consistent impact on anti-sense transcription as well as moderate changes in the regulation of non-coding (sense) RNA. Hundreds of genes that do not express anti-sense transcripts in normal PR and PRCS demonstrate significant anti-sense expression in AMD in all patient samples. Several pathways are highly enriched in the upregulated anti-sense transcripts-in particular the EIF2 signaling pathway. These results call for a deeper exploration into anti-sense and noncoding RNA regulation in AMD and their potential as therapeutic targets.

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