CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Please use this identifier to cite or link to this item: http://hdl.handle.net/1942/34325

Title:	CEP152 is a genome maintenance protein disrupted in Seckel syndrome
Authors:	Kalay, E. Yigit, G. Aslan, Y. Brown, K.E. Pohl, E. Bicknell, L.S. Kayserili, H. Li, Y. Tüysüz, B. Nürnberg, G. Kiess, W. Koegl, M. Baessmann, I. Buruk, K. Toraman, B. Kayipmaz, S. Kul, S. Ikbal, M. Turner, D.J. Taylor, M.S. AERTS, Jan Scott, C. Milstein, K. Dollfus, H. Wieczorek, D. Brunner, H.G. Hurles, M. Jackson, A.P. Rauch, A. Nürnberg, P. Karagüzel, A. Wollnik, B.
Issue Date:	2011
Publisher:
Source:	NATURE GENETICS, 43 (1) , p. 23 -26
Abstract:	Functional impairment of DNA damage response pathways leads to increased genomic instability. Here we describe the centrosomal protein CEP152 as a new regulator of genomic integrity and cellular response to DNA damage. Using homozygosity mapping and exome sequencing, we identified CEP152 mutations in Seckel syndrome and showed that impaired CEP152 function leads to accumulation of genomic defects resulting from replicative stress through enhanced activation of ATM signaling and increased H2AX phosphorylation.
Document URI:	http://hdl.handle.net/1942/34325
ISSN:	1061-4036
e-ISSN:	1546-1718
DOI:	10.1038/ng.725
ISI #:	WOS:000285683500010
Category:	A1
Type:	Journal Contribution
Appears in Collections:	Research publications

173

checked on May 8, 2024

32

checked on Jul 31, 2023

Check