MRC HGU IGMM Edinburgh DAC
Ontology highlight
ABSTRACT:
PROVIDER: EGAC00001000393 | EGA |
REPOSITORIES: EGA
Publications
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
Harley Margaret E ME Murina Olga O Leitch Andrea A Higgs Martin R MR Bicknell Louise S LS Yigit Gökhan G Blackford Andrew N AN Zlatanou Anastasia A Mackenzie Karen J KJ Reddy Kaalak K Halachev Mihail M McGlasson Sarah S Reijns Martin A M MAM Fluteau Adeline A Martin Carol-Anne CA Sabbioneda Simone S Elcioglu Nursel H NH Altmüller Janine J Thiele Holger H Greenhalgh Lynn L Chessa Luciana L Maghnie Mohamad M Salim Mahmoud M Bober Michael B MB Nürnberg Peter P Jackson Stephen P SP Hurles Matthew E ME Wollnik Bernd B Stewart Grant S GS Jackson Andrew P AP
Nature genetics 20151123 1
DNA lesions encountered by replicative polymerases threaten genome stability and cell cycle progression. Here we report the identification of mutations in TRAIP, encoding an E3 RING ubiquitin ligase, in patients with microcephalic primordial dwarfism. We establish that TRAIP relocalizes to sites of DNA damage, where it is required for optimal phosphorylation of H2AX and RPA2 during S-phase in response to ultraviolet (UV) irradiation, as well as fork progression through UV-induced DNA lesions. TR ...[more]
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