Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

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Publikace nespadá pod Fakultu sportovních studií, ale pod Přírodovědeckou fakultu. Oficiální stránka publikace je na webu muni.cz.

Autoři	CHAKI Moumita AIRIK Rannar GHOSH Amiya K. GILES Rachel H. CHEN Rui SLAATS Gisela G. WANG Hui HURD Toby W. ZHOU Weibin CLUCKEY Andrew GEE Heon-Yung RAMASWAMI Gokul HONG Chen-Jei HAMILTON, Bruce A. ČERVENKA Igor GANJI Sri Ranjani BRYJA Vítězslav ARTS Heleen H. VAN REEUWIJK Jeroen OUD Machteld M. LETTEBOER Stef J.F. ROEPMAN Ronald HUSSON Hervé IBRAGHIMOV-BESKROVNAYA Oxana YSUNAGA Takayuky WALZ Gerd ELEY Lorraine SCHERMER Bernhard SYAER John A. LIEBAU Max C. BENZING Thomas LE CORRE Stephanie DRUMMOND Iain JANSSEN Sabine ALLEN Susan J. NATARAJAN Sivakumar O TOOLE John F. ATTANASIO Massimo SAUNIER Sophie ANTIGNAC Corinne KOENEKOOP Robert K. REN Huanan LOPEZ Irma NAYIR Ahmet STOETZEL Corinne DOLLFUS Helene MASSOUDI Rustin GLEESON Joseph G. ANDREOLI Sharon P. DOHERTY Dan G. LINDSTRAD Anna GOLZIO Christelle KATSANIS Nicholas PAPE Lars ABBOUD Emad B. AL-RAJHI Ali A. LEWIS Richard A. OMRAN Heymut LEE Eva WANG Shaohui SEKIGUCHI JoAnn M. SAUNDERS Rudel JOHNSON Colin A. GARNER Elizabeth VANSELOW Katja ANDERSEN Jens S. SHLOMAI Joseph NURNBERG Gudrun NURNBERG Peter LEVY Shawn SMOGORZEWSKA Agata OTTO Edgar A. HILDEBRANDT Friedhelm
Rok publikování	2012
Druh	Článek v odborném periodiku
Časopis / Zdroj	Cell
Fakulta / Pracoviště MU	Přírodovědecká fakulta
Citace	CHAKI, Moumita, Rannar AIRIK, Amiya K. GHOSH, Rachel H. GILES, Rui CHEN, Gisela G. SLAATS, Hui WANG, Toby W. HURD, Weibin ZHOU, Andrew CLUCKEY, Heon-Yung GEE, Gokul RAMASWAMI, Chen-Jei HONG, Bruce A. HAMILTON,, Igor ČERVENKA, Sri Ranjani GANJI, Vítězslav BRYJA, Heleen H. ARTS, Jeroen VAN REEUWIJK, Machteld M. OUD, Stef J.F. LETTEBOER, Ronald ROEPMAN, Hervé HUSSON, Oxana IBRAGHIMOV-BESKROVNAYA, Takayuky YSUNAGA, Gerd WALZ, Lorraine ELEY, Bernhard SCHERMER, John A. SYAER, Max C. LIEBAU, Thomas BENZING, Stephanie LE CORRE, Iain DRUMMOND, Sabine JANSSEN, Susan J. ALLEN, Sivakumar NATARAJAN, John F. O TOOLE, Massimo ATTANASIO, Sophie SAUNIER, Corinne ANTIGNAC, Robert K. KOENEKOOP, Huanan REN, Irma LOPEZ, Ahmet NAYIR, Corinne STOETZEL, Helene DOLLFUS, Rustin MASSOUDI, Joseph G. GLEESON, Sharon P. ANDREOLI, Dan G. DOHERTY, Anna LINDSTRAD, Christelle GOLZIO, Nicholas KATSANIS, Lars PAPE, Emad B. ABBOUD, Ali A. AL-RAJHI, Richard A. LEWIS, Heymut OMRAN, Eva LEE, Shaohui WANG, JoAnn M. SEKIGUCHI, Rudel SAUNDERS, Colin A. JOHNSON, Elizabeth GARNER, Katja VANSELOW, Jens S. ANDERSEN, Joseph SHLOMAI, Gudrun NURNBERG, Peter NURNBERG, Shawn LEVY, Agata SMOGORZEWSKA, Edgar A. OTTO a Friedhelm HILDEBRANDT. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell. United States of America: Cell Press, Cambridge, MA, USA, 2012, roč. 150, č. 3, s. 533-548. ISSN 0092-8674. Dostupné z: https://dx.doi.org/10.1016/j.cell.2012.06.028.
Doi	http://dx.doi.org/10.1016/j.cell.2012.06.028
Obor	Fyziologie
Klíčová slova	NPHP; CEP 164; ZNF423; renal ciliopathies
Popis	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.
Související projekty:	Funkční a molekulární charakteristiky nádorových a normálních kmenových buněk - identifikace cílů pro nová terapeutika a terapeutické strategie EMBO Young Investigator Programme