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Characterization of RTEL1 mutations in Hoyeraal-Hreidarsson Syndrome

Total Cost €


EC-Contrib. €






 RTEL1inHHS project word cloud

Explore the words cloud of the RTEL1inHHS project. It provides you a very rough idea of what is the project "RTEL1inHHS" about.

function    characterization    causal    host    mutations    instability    maintains    vivo    stability    recruitment    execute    variants    anticipate    anaemia    18    discoveries    secondary    shown    advantage    repair    mutants    presenting    significantly    hhs    proteomic    impair    translational    contribution    aplastic    multisystem    lab    mouse    permits    immunodeficiency    abolish    protein    phenotype    light    vitro    little    undefined    model    uterine    interaction    recruited    complementation    disease    inter    functions    hreidarsson    genomic    interactions    expression    maintaining    dna    deficient    structures    holds    regulation    modifications    disorder    telomeres    summary    arise    mutant    stable    prevents    forks    rtel1    recombination    regulated    outstanding    perform    patients    post    dynamically    disassembling    cells    questions    retardation    phenotypes    shed    syndrome    integrity    genome    hoyeraal    physiological    combination    replication   

Project "RTEL1inHHS" data sheet

The following table provides information about the project.


Organization address
address: 1 MIDLAND ROAD
city: LONDON
postcode: NW1 1AT

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 United Kingdom [UK]
 Project website
 Total cost 183˙454 €
 EC max contribution 183˙454 € (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 2017
 Duration (year-month-day) from 2017-01-01   to  2018-12-31


Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 


 Project objective

Hoyeraal-Hreidarsson syndrome (HHS) is a multisystem disorder with patients presenting inter-uterine growth retardation, immunodeficiency, and/or aplastic anaemia. Recently, mutations in RTEL1 have been shown to be causal for this disease. RTEL1 prevents genomic instability and maintains integrity of the telomeres by disassembling different secondary structures that arise during DNA replication, repair, and recombination.Although recent discoveries from the host lab and others have shed light on the function of RTEL1 in maintaining genome stability, many outstanding questions remain to be addressed. Currently very little is known about RTEL1 regulation or how it is dynamically recruited to replication forks and telomeres to execute its functions. Moreover, it is not known whether RTEL1 expression or recruitment is regulated by post-translational modifications. Of the 18 identified mutations, only two have been characterized. As these undefined mutations are causal for HHS and must therefore affect the RTEL1 function, their detailed characterization is likely to shed light on new aspects of its function and/or regulation. The main objective of this project is to characterize the undefined HHS mutations in RTEL1 and determine how they impair the physiological protein function, in vitro and in vivo.

To this end, we will take advantage of a complementation system that permits the stable expression of RTEL1 variants in RTEL1 deficient cells, allowing us to study RTEL1 mutant contribution to RTEL1 phenotypes. We will also perform comparative proteomic analysis of the mutants to determine if they abolish specific/novel protein-protein interactions. HHS mutations that present with a defined phenotype or affect a novel interaction will be studied in vivo in a mouse model.

In summary, we anticipate that the combination of approaches proposed here holds the potential to significantly contribute towards the understanding of how different mutations affect RTEL1 function.


year authors and title journal last update
List of publications.
2018 Pol Margalef, Panagiotis Kotsantis, Valerie Borel, Roberto Bellelli, Stephanie Panier, Simon J. Boulton
Stabilization of Reversed Replication Forks by Telomerase Drives Telomere Catastrophe
published pages: 439-453.e14, ISSN: 0092-8674, DOI: 10.1016/j.cell.2017.11.047
Cell 172/3 2019-10-08

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