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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.

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

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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