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Pregled bibliografske jedinice broj: 1170234

Warsaw Breakage Syndrome associated DDX11 helicase resolves G- quadruplex structures to support sister chromatid cohesion

van Schie, Janne J. M.; Faramarz, Atiq; Balk, Jesper A.; Stewart, Grant S.; Cantelli, Erika; Oostra, Anneke B.; Rooimans, Martin A.; Parish, Joanna L.; de Almeida Estéves, Cynthia; Dumic, Katja et al.
Warsaw Breakage Syndrome associated DDX11 helicase resolves G- quadruplex structures to support sister chromatid cohesion // Nature Communications, 11 (2020), 1; 4287-4305 doi:10.1038/s41467-020-18066-8 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1170234 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Warsaw Breakage Syndrome associated DDX11 helicase resolves G- quadruplex structures to support sister chromatid cohesion

Autori
Van Schie, Janne J. M. ; Faramarz, Atiq ; Balk, Jesper A. ; Stewart, Grant S. ; Cantelli, Erika ; Oostra, Anneke B. ; Rooimans, Martin A. ; Parish, Joanna L. ; de Almeida Estéves, Cynthia ; Dumic, Katja ; Barisic, Ingeborg ; Diderich, Karin E. M. ; van Slegtenhorst, Marjon A. ; Mahtab, Mohammad ; Pisani, Francesca M. ; te Riele, Hein ; Ameziane, Najim ; Wolthuis, Rob M. F. ; de Lange, Job

Izvornik
Nature Communications (2041-1723) 11 (2020), 1; 4287-4305

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
DNA repair enzymes ; Genetics ; DNA damage and repair ; DNA synthesis

Sažetak
Warsaw Breakage Syndrome (WABS) is a rare disorder related to cohesinopathies and Fanconi anemia, caused by bi-allelic mutations in DDX11. Here, we report multiple compound heterozygous WABS cases, each displaying destabilized DDX11 protein and residual DDX11 function at the cellular level. Patient- derived cell lines exhibit sensitivity to topoisomerase and PARP inhibitors, defective sister chromatid cohesion and reduced DNA replication fork speed. Deleting DDX11 in RPE1- TERT cells inhibits proliferation and survival in a TP53-dependent manner and causes chromosome breaks and cohesion defects, independent of the expressed pseudogene DDX12p. Importantly, G- quadruplex (G4) stabilizing compounds induce chromosome breaks and cohesion defects which are strongly aggravated by inactivation of DDX11 but not FANCJ. The DNA helicase domain of DDX11 is essential for sister chromatid cohesion and resistance to G4 stabilizers. We propose that DDX11 is a DNA helicase protecting against G4 induced double-stranded breaks and concomitant loss of cohesion, possibly at DNA replication forks.

Izvorni jezik
Engleski



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Zagreb

Profili:

Avatar Url Ingeborg Barišić (autor)

Avatar Url Katja Dumić Kubat (autor)

Poveznice na cjeloviti tekst rada:

doi

Citiraj ovu publikaciju:

van Schie, Janne J. M.; Faramarz, Atiq; Balk, Jesper A.; Stewart, Grant S.; Cantelli, Erika; Oostra, Anneke B.; Rooimans, Martin A.; Parish, Joanna L.; de Almeida Estéves, Cynthia; Dumic, Katja et al.
Warsaw Breakage Syndrome associated DDX11 helicase resolves G- quadruplex structures to support sister chromatid cohesion // Nature Communications, 11 (2020), 1; 4287-4305 doi:10.1038/s41467-020-18066-8 (međunarodna recenzija, članak, znanstveni)
Van Schie, J., Faramarz, A., Balk, J., Stewart, G., Cantelli, E., Oostra, A., Rooimans, M., Parish, J., de Almeida Estéves, C. & Dumic, K. (2020) Warsaw Breakage Syndrome associated DDX11 helicase resolves G- quadruplex structures to support sister chromatid cohesion. Nature Communications, 11 (1), 4287-4305 doi:10.1038/s41467-020-18066-8.
@article{article, author = {van Schie, Janne J. M. and Faramarz, Atiq and Balk, Jesper A. and Stewart, Grant S. and Cantelli, Erika and Oostra, Anneke B. and Rooimans, Martin A. and Parish, Joanna L. and de Almeida Est\'{e}ves, Cynthia and Dumic, Katja and Barisic, Ingeborg and Diderich, Karin E. M. and van Slegtenhorst, Marjon A. and Mahtab, Mohammad and Pisani, Francesca M. and te Riele, Hein and Ameziane, Najim and Wolthuis, Rob M. F. and de Lange, Job}, year = {2020}, pages = {4287-4305}, DOI = {10.1038/s41467-020-18066-8}, keywords = {DNA repair enzymes, Genetics, DNA damage and repair, DNA synthesis}, journal = {Nature Communications}, doi = {10.1038/s41467-020-18066-8}, volume = {11}, number = {1}, issn = {2041-1723}, title = {Warsaw Breakage Syndrome associated DDX11 helicase resolves G- quadruplex structures to support sister chromatid cohesion}, keyword = {DNA repair enzymes, Genetics, DNA damage and repair, DNA synthesis} }
@article{article, author = {van Schie, Janne J. M. and Faramarz, Atiq and Balk, Jesper A. and Stewart, Grant S. and Cantelli, Erika and Oostra, Anneke B. and Rooimans, Martin A. and Parish, Joanna L. and de Almeida Est\'{e}ves, Cynthia and Dumic, Katja and Barisic, Ingeborg and Diderich, Karin E. M. and van Slegtenhorst, Marjon A. and Mahtab, Mohammad and Pisani, Francesca M. and te Riele, Hein and Ameziane, Najim and Wolthuis, Rob M. F. and de Lange, Job}, year = {2020}, pages = {4287-4305}, DOI = {10.1038/s41467-020-18066-8}, keywords = {DNA repair enzymes, Genetics, DNA damage and repair, DNA synthesis}, journal = {Nature Communications}, doi = {10.1038/s41467-020-18066-8}, volume = {11}, number = {1}, issn = {2041-1723}, title = {Warsaw Breakage Syndrome associated DDX11 helicase resolves G- quadruplex structures to support sister chromatid cohesion}, keyword = {DNA repair enzymes, Genetics, DNA damage and repair, DNA synthesis} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE
  • Nature Index

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