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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, 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, 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
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:
It is part of: Scientific Reports, 2017, vol. 7, num. 1, p. 11762
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ISSN: 2045-2322
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Articles publicats en revistes (Ciències Fisiològiques)

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