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Title: | DNA methylomes reveal biological networks involved in human eye development, functions and associated disorders |
Author: | Berdasco, María Gómez, Antonio Rubio, Marcos J. Català-Mora, Jaume Zanón-Moreno, Vicente Lopez, Miguel Hernández-Munain, Cristina Yoshida, Shigeo Nakama, Takahito Ishikawa, Keijiro Ishibashi, Tatsuro Boubekeur, Amina M. Louhibi, Lotfi Pujana Genestar, M. Ángel Sayols, Sergi Setién, Fernando Corella Piquer, Dolores Torres Gómez-Pallete, Carmen de Parareda, Andreu Mora Graupera, Jaume Zhao, Ling Zhang, Kang Lleonart, Matilde E. Alonso, Javier Simó, Rafael Caminal Mitjana, Josep Maria Esteller, Manel |
Keywords: | ADN Metilació Càncer Oftalmologia Ull DNA Methylation Cancer Ophthalmology Eye |
Issue Date: | 18-Sep-2017 |
Publisher: | Nature Publishing Group |
Abstract: | This work provides a comprehensive CpG methylation landscape of the different layers of the human eye that unveils the gene networks associated with their biological functions and how these are disrupted in common visual disorders. Herein, we firstly determined the role of CpG methylation in the regulation of ocular tissue-specification and described hypermethylation of retinal transcription factors (i.e., PAX6, RAX, SIX6) in a tissue-dependent manner. Second, we have characterized the DNA methylome of visual disorders linked to internal and external environmental factors. Main conclusions allow certifying that crucial pathways related to Wnt-MAPK signaling pathways or neuroinflammation are epigenetically controlled in the fibrotic disorders involved in retinal detachment, but results also reinforced the contribution of neurovascularization (ETS1, HES5, PRDM16) in diabetic retinopathy. Finally, we had studied the methylome in the most frequent intraocular tumors in adults and children (uveal melanoma and retinoblastoma, respectively). We observed that hypermethylation of tumor suppressor genes is a frequent event in ocular tumors, but also unmethylation is associated with tumorogenesis. Interestingly, unmethylation of the proto-oncogen RAB31 was a predictor of metastasis risk in uveal melanoma. Loss of methylation of the oncogenic mir-17-92 cluster was detected in primary tissues but also in blood from patients. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/s41598-017-12084-1 |
It is part of: | Scientific Reports, 2017, vol. 7, num. 1, p. 11762 |
URI: | http://hdl.handle.net/2445/122391 |
Related resource: | https://doi.org/10.1038/s41598-017-12084-1 |
ISSN: | 2045-2322 |
Appears in Collections: | Articles publicats en revistes (Ciències Clíniques) Articles publicats en revistes (Ciències Fisiològiques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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