Project information

Project information
RecQ4 – a protein hub required for proper replication and recombination and its implications in Rothmund-Thomson Syndrome

Project Identification
Project Period
3/2020 - 12/2022
Investor / Pogramme / Project type
Masaryk University
MU Faculty or unit
Faculty of Science
Other MU Faculty/Unit
Faculty of Medicine
Other MU Faculty/Unit
Central European Institute of Technology

Mutations in RECQ4 helicase cause the Rothmund-Thomson syndrome. The disease is characterized by chromosome fragility, premature aging, developmental abnormalities and predisposition to cancer. RecQ4 participates in several cellular processes, including DNA replication, DNA damage response, telomere and mitochondrial maintenance. However, it is not clear which impaired functions of RECQ4 trigger the pathogenic effects. We have identified several novel RecQ4 interacting partners mediated by the conserved N-terminal domain required for cell viability. Here we propose a multidisciplinary set of biochemical, biophysical, structural, cellular and genetic approaches to understand the molecular function of RecQ4 protein in cells and its correlation to disease development. We set three goals to unravel the roles of RecQ4 during replication and resolution of replication/recombination intermediates. Krejci’s lab will focus on biochemical characterization of the above-mentioned protein interactions and their effect on replication initiation and progression, as well as resolution of stalled intermediates in human cell lines. Tripsianes’ group will focus on structural and biophysical characterisation of interaction interfaces and identify separation of function mutants. Silva’s team will nicely complement the biological role of RecQ4 in the C.elegans model system. The proposed synergy promises to dissect RecQ4 multiple functions in genome maintenance, which in turn will offer a better understanding on the development of RECQ4 associated diseases.

Sustainable Development Goals

Masaryk University is committed to the UN Sustainable Development Goals, which aim to improve the conditions and quality of life on our planet by 2030.

Sustainable Development Goal No.  3 – Good health and well-being


Total number of publications: 4

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