Acronym
EyeTN
Code
41Q09012
Duration
01 November 2012 → 31 October 2016
Funding
Europese middelen: kaderprogramma
Promotor
Research disciplines
-
Natural sciences
- Genetics
- Systems biology
-
Medical and health sciences
- Laboratory medicine
- Medical systems biology
- Molecular and cell biology
- Laboratory medicine
- Medical systems biology
- Molecular and cell biology
- Laboratory medicine
- Medical systems biology
- Molecular and cell biology
Keywords
exoom
retinale dystrofie
erfelijke blindheid
retinaal pigment epitheel
cis-regulatorische mapping
variant prioritisatie
Project description
Corbo et al. (2010) mapped CRX bound cis-regulatory elements in mouse, resulting in a photoreceptor-specific regulatory map. Retinal pigment epithelium (RPE)-expressed genes are not represented in this dataset. ChIP-seq of the RPE-expressed transcription factor OTX2 will be performed in RPE-derived cell lines. Exomes data of index cases with retinal dystrophies (RD) will be filtered against known RD genes, and against CRX, NRL and OTX2 cis-regulatory datasets.