Project

Cis-regulatory mapping of the RPE-expressed transcription factor OTX2

Acroniem

EyeTN

Code

41Q09012

Looptijd

01-11-2012 → 31-10-2016

Financiering

Europese middelen: kaderprogramma

Promotor

Elfride De Baere

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.