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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling
Cell, Volume 150, No. 3, Year 2012
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Description
Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia and centrosomes defined them as "ciliopathies." However, disease mechanisms remain poorly understood. Here, we identify by whole-exome resequencing, mutations of MRE11, ZNF423, and CEP164 as causing NPHP-RC. All three genes function within the DNA damage response (DDR) pathway. We demonstrate that, upon induced DNA damage, the NPHP-RC proteins ZNF423, CEP164, and NPHP10 colocalize to nuclear foci positive for TIP60, known to activate ATM at sites of DNA damage. We show that knockdown of CEP164 or ZNF423 causes sensitivity to DNA damaging agents and that cep164 knockdown in zebrafish results in dysregulated DDR and an NPHP-RC phenotype. Our findings link degenerative diseases of the kidney and retina, disorders of increasing prevalence, to mechanisms of DDR. PaperFlick: © 2012 Elsevier Inc.
Authors & Co-Authors
Chaki, Moumita
Unknown Affiliation
Airik, Rannar
Unknown Affiliation
Ghosh, Amiya K.
Unknown Affiliation
Giles, Rachel H.
Unknown Affiliation
Chen, Rui
Unknown Affiliation
Slaats, Gisela G.
Unknown Affiliation
Wang, Hui
Unknown Affiliation
Hurd, Toby W.
Unknown Affiliation
Zhou, Weibin
Unknown Affiliation
Cluckey, Andrew
Unknown Affiliation
Gee, Heonyung
Unknown Affiliation
Ramaswami, Gokul
Unknown Affiliation
Hong, Chen Jei
Unknown Affiliation
Hamilton, Bruce A.
Unknown Affiliation
Červenka, Igor
Unknown Affiliation
Ganji, Ranjani Sri
Unknown Affiliation
Bryja, Vitezslav
Unknown Affiliation
Arts, Heleen H.
Unknown Affiliation
van Reeuwijk, Jeroen V.
Unknown Affiliation
Oud, Machteld M.
Unknown Affiliation
Letteboer, Stef J.F.
Unknown Affiliation
Roepman, Ronald
Unknown Affiliation
Husson, Hervé
Unknown Affiliation
Ibraghimov-Beskrovnaya, Oxana
Unknown Affiliation
Yasunaga, Takayuki
Unknown Affiliation
Walz, Gerd
Unknown Affiliation
Eley, Lorraine
Unknown Affiliation
Sayer, John Andrew
Unknown Affiliation
Schermer, Bernhard
Unknown Affiliation
Liebau, Max Christoph
Unknown Affiliation
Benzing, Thomas R.
Unknown Affiliation
Le Corre, Stephanie
Unknown Affiliation
Drummond, Iain A.S.
Unknown Affiliation
Janssen, Sabine
Unknown Affiliation
Allen, Susan J.
Unknown Affiliation
Natarajan, Sivakumar
Unknown Affiliation
O'toole, John F.
Unknown Affiliation
Attanasio, Massimo
Unknown Affiliation
Saunier, Sophie
Unknown Affiliation
Antignac, Corinne
Unknown Affiliation
Koenekoop, Robert K.
Unknown Affiliation
Ren, Huanan
Unknown Affiliation
Lopez, Irma
Unknown Affiliation
Nayir, Ahmet Nevzat
Unknown Affiliation
Stoetzel, Corinne
Unknown Affiliation
Dollfus, Hélène J.
Unknown Affiliation
Massoudi, Rustin A.
Unknown Affiliation
Gleeson, Joseph G.
Unknown Affiliation
Andreoli, Sharon Phillips
Unknown Affiliation
Doherty, Dan A.
Unknown Affiliation
Lindstrad, Anna
Unknown Affiliation
Golzio, Christelle
Unknown Affiliation
Katsanis, Nicholas
Unknown Affiliation
Pape, Lars
Unknown Affiliation
Abboud, Emad B.
Unknown Affiliation
Al-Rajhi, Ali A.
Unknown Affiliation
Lewis, R. A.
Unknown Affiliation
Omran, Heymut
Unknown Affiliation
Lee, Eva Y.H.P.
Unknown Affiliation
Wang, Shaohui
Unknown Affiliation
Sekiguchi, Jo Ann
Unknown Affiliation
Saunders, Rudel
Unknown Affiliation
Johnson, Colin A.
Unknown Affiliation
Garner, Elizabeth
Unknown Affiliation
Vanselow, Katja
Unknown Affiliation
Andersen, Jens S.
Unknown Affiliation
Shlomai, Joseph
Unknown Affiliation
Nürnberg, Gudrun
Unknown Affiliation
Nürnberg, Peter
Unknown Affiliation
Levy, Shawn E.
Unknown Affiliation
Smogorzewska, Agata
Unknown Affiliation
Otto, Edgar A.
Unknown Affiliation
Hildebrandt, Friedhelm
Unknown Affiliation
Statistics
Citations: 357
Authors: 73
Affiliations: 34
Identifiers
Doi:
10.1016/j.cell.2012.06.028
ISSN:
00928674
e-ISSN:
10974172
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study