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ROQ-WACh SIGNED

Identification and Characterization of Cis-Regulatory ModuleDysfunction in Rett Syndrome with ROQ-WACh

Total Cost €

EC-Contrib. €

Partnership

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Outcomes and
results

ROQ-WACh project word cloud

Explore the words cloud of the ROQ-WACh project. It provides you a very rough idea of what is the project "ROQ-WACh" about.

msca spain manel roq matthew laboratory join precise reporter thought regulatory cis regulation quantification biological phenotypes protein gene termed researcher population genomics mecp2 behaviors homogenous host cognitive accessible repressor utilize sklodowska supervisor readout ambiguous regulates lastly expert binds marie murtha curie broadly rett neurons coordinated dr relationship epigeneticist renowned identification data encodes disorder combine functional dysregulation me compromised crms wach esteller chromatin syndrome mutations vivo output modules quantify active insights firewach mobility health barcodes benefit characterization first applicable throughput biology modulate spectrum dna autism genomic pathological globally function expression mrnas loci action adapt perform methylated methylation devastating crm

Project "ROQ-WACh" data sheet

The following table provides information about the project.

Coordinator	FUNDACIO INSTITUT D'INVESTIGACIO BIOMEDICA DE BELLVITGE Organization address address: AVENIDA GRAN VIA HOSPITALET 199-203 city: L'HOSPITALET DE LLOBREGAT postcode: 8908 website: www.idibell.cat contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.
Coordinator Country	Spain [ES]
Project website	http://www.idibell.cat
Total cost	158˙121 €
EC max contribution	158˙121 € (100%)
Programme	1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
Code Call	H2020-MSCA-IF-2015
Funding Scheme	MSCA-IF-EF-ST
Starting year	2016
Duration (year-month-day)	from 2016-03-01 to 2018-02-28

Partnership

Take a look of project's partnership.

#	participants	country	role	EC contrib. [€]
1	FUNDACIO INSTITUT D'INVESTIGACIO BIOMEDICA DE BELLVITGE FUNDACIO INSTITUT D'INVESTIGACIO BIOMEDICA DE BELLVITGE Organization address address: AVENIDA GRAN VIA HOSPITALET 199-203 city: L'HOSPITALET DE LLOBREGAT postcode: 8908 website: www.idibell.cat contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	ES (L'HOSPITALET DE LLOBREGAT)	coordinator	158˙121.00

Map

Project objective

Precise regulation of gene expression is achieved through the coordinated action of genomic cis-regulatory modules (CRMs). The identification of CRMs has long been a goal of functional genomics as CRM dysregulation can have devastating consequences for health and development such as autism. For example, mutations in the MeCP2 gene, which encodes protein that binds methylated DNA and regulates gene expression in neurons, results an Autism Spectrum Disorder termed Rett Syndrome. While thought to modulate CRM activity as a repressor, MeCP2’s function remains ambiguous and would benefit from a functional genomics characterization. To identify CRMs I recently developed a novel approach called FIREWACh. Here, I propose to utilize FIREWACh first to identify active CRMs within a homogenous population of neurons, identifying genomic loci of CRMs whose function may be compromised by MeCP2 mutations. I will adapt FIREWACh to allow the quantification of CRM output in a new method I propose to call ROQ-WACh (regulatory output quantification within accessible chromatin) by addition of barcodes to reporter mRNAs. This will allow high-throughput readout of CRM activity globally in vivo and will be broadly applicable to many biological fields. Lastly, I aim to combine the above approaches to quantify the changes in CRM output in response to pathological mutations in MeCP2. This Marie Sklodowska-Curie Action will allow me (the Experienced Researcher, Matthew Murtha) mobility to Spain to join the laboratory of Dr. Manel Esteller (Host Supervisor), renowned epigeneticist and expert in DNA-methylation biology to perform the research. Together the approaches and data generated by this MSCA action will provide key insights into the relationship between methylated DNA, precise control of gene expression, and high-order phenotypes such as cognitive behaviors.

Publications

List of publications.
year	authors and title	journal	last update
2017	Andrea Izquierdo-Bouldstridge, Alberto Bustillos, Carles Bonet-Costa, Patricia Aribau-MiralbÃ©s, Daniel GarcÃa-Gomis, Marc Dabad, Anna Esteve-Codina, Laura Pascual-Reguant, Sandra PeirÃ³, Manel Esteller, Matthew Murtha, LluÃs MillÃ¡n-AriÃ±o, Albert Jordan Histone H1 depletion triggers an interferon response in cancer cells via activation of heterochromatic repeats published pages: 11622-11642, ISSN: 0305-1048, DOI: 10.1093/nar/gkx746	Nucleic Acids Research 45/20	2019-06-13

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