CEP152 is a genome maintenance protein disrupted in Seckel syndrome.
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.
Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey. ersankalay@hotmail.com
Ersan
E
Kalay
Gökhan
G
Yigit
Yakup
Y
Aslan
Karen E
KE
Brown
Esther
E
Pohl
Louise S
LS
Bicknell
Hülya
H
Kayserili
Yun
Y
Li
Beyhan
B
Tüysüz
Gudrun
G
Nürnberg
Wieland
W
Kiess
Manfred
M
Koegl
Ingelore
I
Baessmann
Kurtulus
K
Buruk
Bayram
B
Toraman
Saadettin
S
Kayipmaz
Sibel
S
Kul
Mevlit
M
Ikbal
Daniel J
DJ
Turner
Martin S
MS
Taylor
Jan
J
Aerts
Carol
C
Scott
Karen
K
Milstein
Helene
H
Dollfus
Dagmar
D
Wieczorek
Han G
HG
Brunner
Matthew
M
Hurles
Andrew P
AP
Jackson
Anita
A
Rauch
Peter
P
Nürnberg
Ahmet
A
Karagüzel
Bernd
B
Wollnik
D018797:Cell Cycle Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004249:DNA Damage; D004392:Dwarfism / Q000235:genetics; D019066:Facies; D015894:Genome, Human; D042822:Genomic Instability; D006657:Histones / Q000235:genetics; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics; D009154:Mutation; D010766:Phosphorylation
C551028:CEP152 protein, human; D018797:Cell Cycle Proteins; C468783:H2AX protein, human; D006657:Histones