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Pregled bibliografske jedinice broj: 783728

CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination


Marjanović, Marko; Sanchez-Huertas, Carlos; Terre, Berta; Gomez, Rocio; Scheel, Jan Frederik; Pacheco, Sarai; Knobel, Philip; Martinez-Marchal, Ana; Aivio, Suvi; Palenzuela, Lluis et al.
CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination // Nature Communications, 6 (2015), 7676-1 doi:10.1038/ncomms8676 (međunarodna recenzija, članak, znanstveni)


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Naslov
CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination

Autori
Marjanović, Marko ; Sanchez-Huertas, Carlos ; Terre, Berta ; Gomez, Rocio ; Scheel, Jan Frederik ; Pacheco, Sarai ; Knobel, Philip ; Martinez-Marchal, Ana ; Aivio, Suvi ; Palenzuela, Lluis ; Wolfrum, Uwe ; McKinnon, Peter ; Suja, Jose ; Roig, Ignasi ; Costanzo, Vincenzo ; Luders, Jens ; Stracker, Travis

Izvornik
Nature Communications (2041-1723) 6 (2015); 7676-1

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

Ključne riječi
microcephaly ; DNA damage ; centrosome ; meiosis

Sažetak
CEP63 is a centrosomal protein that facilitates centriole duplication and is regulated by the DNA damage response. Mutations in CEP63 cause Seckel syndrome, a human disease characterized by microcephaly and dwarfism. Here we demonstrate that Cep63-deficient mice recapitulate Seckel syndrome pathology. The attrition of neural progenitor cells involves p53-dependent cell death, and brain size is rescued by the deletion of p53. Cell death is not the result of an aberrant DNA damage response but is triggered by centrosome-based mitotic errors. In addition, Cep63 loss severely impairs meiotic recombination, leading to profound male infertility. Cep63-deficient spermatocytes display numerical and structural centrosome aberrations, chromosome entanglements and defective telomere clustering, suggesting that a reduction in centrosome-mediated chromosome movements underlies recombination failure. Our results provide novel insight into the molecular pathology of microcephaly and establish a role for the centrosome in meiotic recombination.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Temeljne medicinske znanosti



POVEZANOST RADA


Ustanove:
Institut "Ruđer Bošković", Zagreb

Profili:

Avatar Url Marko Marjanović (autor)

Citiraj ovu publikaciju

Marjanović, Marko; Sanchez-Huertas, Carlos; Terre, Berta; Gomez, Rocio; Scheel, Jan Frederik; Pacheco, Sarai; Knobel, Philip; Martinez-Marchal, Ana; Aivio, Suvi; Palenzuela, Lluis et al.
CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination // Nature Communications, 6 (2015), 7676-1 doi:10.1038/ncomms8676 (međunarodna recenzija, članak, znanstveni)
Marjanović, M., Sanchez-Huertas, C., Terre, B., Gomez, R., Scheel, J., Pacheco, S., Knobel, P., Martinez-Marchal, A., Aivio, S. & Palenzuela, L. (2015) CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination. Nature Communications, 6, 7676-1 doi:10.1038/ncomms8676.
@article{article, year = {2015}, pages = {7676-1-7676-14}, DOI = {10.1038/ncomms8676}, keywords = {microcephaly, DNA damage, centrosome, meiosis}, journal = {Nature Communications}, doi = {10.1038/ncomms8676}, volume = {6}, issn = {2041-1723}, title = {CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination}, keyword = {microcephaly, DNA damage, centrosome, meiosis} }
@article{article, year = {2015}, pages = {7676-1-7676-14}, DOI = {10.1038/ncomms8676}, keywords = {microcephaly, DNA damage, centrosome, meiosis}, journal = {Nature Communications}, doi = {10.1038/ncomms8676}, volume = {6}, issn = {2041-1723}, title = {CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination}, keyword = {microcephaly, DNA damage, centrosome, meiosis} }

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


Uključenost u ostale bibliografske baze podataka:


  • MEDLINE


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