Acroniem
EyeTN
Code
41Q09012
Looptijd
01-11-2012 → 31-10-2016
Financiering
Europese middelen: kaderprogramma
Promotor
Onderzoeksdisciplines
-
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
Trefwoorden
exome
hereditary blindness
variant prioritisation
cis-regulatory mapping
retinal dystrophy
retinal pigment epitheiuml
Projectomschrijving
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.