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progression. Here we report the identification of mutations in TRAIP, encoding an E3 RING ubiquitin
ligase, in patients with microcephalic primordial dwarfism/Seckel syndrome. 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 UV irradiation, as well as fork progression through UV-induced
DNA lesions. TRAIP is necessary for efficient cell cycle progression and mutations in TRAIP therefore
limit cellular proliferation, providing a potential mechanism for microcephaly and dwarfism
phenotypes. Human genetics thus identifies TRAIP as a novel component of the DNA damage
response to replication-blocking DNA lesions.
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- Deanery of Molecular, Genetic and Population Health Sciences - Professorial Fellow of Human Genetics
- MRC Human Genetics Unit - Programme Leader
- Edinburgh Neuroscience
Person: Academic: Research Active