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ROQ-WACh SIGNED

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

Total Cost €

0

EC-Contrib. €

0

Partnership

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 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.

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

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 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

year authors and title journal last update
List of publications.
2017 Andrea Izquierdo-Bouldstridge, Alberto Bustillos, Carles Bonet-Costa, Patricia Aribau-Miralbés, Daniel García-Gomis, Marc Dabad, Anna Esteve-Codina, Laura Pascual-Reguant, Sandra Peiró, Manel Esteller, Matthew Murtha, Lluís Millán-Ariño, 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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