Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UNIPROT:P16104 (
H2AX
)
3,930
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
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 component of the DNA damage response to replication-blocking DNA lesions.
...
PMID:TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. 2659 69
