TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.

doi:10.1038/ng.3451

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Article

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.

Nature genetics - 1 Jan 2016

Harley Margaret E, Murina Olga, Leitch Andrea, Higgs Martin R, Bicknell Louise S, Yigit Gökhan, Blackford Andrew N, Zlatanou Anastasia, Mackenzie Karen J, Reddy Kaalak, Halachev Mihail, McGlasson Sarah, Reijns Martin A M, Fluteau Adeline, Martin Carol-Anne, Sabbioneda Simone, Elcioglu Nursel H, Altmüller Janine, Thiele Holger, Greenhalgh Lynn, Chessa Luciana, Maghnie Mohamad, Salim Mahmoud, Bober Michael B, Nürnberg Peter, Jackson Stephen P, Hurles Matthew E, Wollnik Bernd, Stewart Grant S, Jackson Andrew P

Abstract excerpt

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...

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Identifiers

PMID: 26595769
DOI: 10.1038/ng.3451
PMCID: PMC4697364

Genes

TRAIP
RPA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.PMID 26595769Read ↗

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