Article
NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets.
eLife - 6 Jul 2015
Bouveret Romaric, Waardenberg Ashley J, Schonrock Nicole, Ramialison Mirana, Doan Tram, de Jong Danielle, Bondue Antoine, Kaur Gurpreet, Mohamed Stephanie, Fonoudi Hananeh, Chen Chiann-Mun, Wouters Merridee A, Bhattacharya Shoumo, Plachta Nicolas, Dunwoodie Sally L, Chapman Gavin, Blanpain Cédric, Harvey Richard P
Abstract excerpt
We take a functional genomics approach to congenital heart disease mechanism. We used DamID to establish a robust set of target genes for NKX2-5 wild type and disease associated NKX2-5 mutations to model loss-of-function in gene regulatory networks. NKX2-5 mutants, including those with a crippled homeodomain, bound hundreds of targets including NKX2-5 wild type targets and a unique set of "off-targets", and...
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