Ataxia telangiectasia: more variation at clinical and cellular levels.
Birmingham, United Kingdom. In Clin Genet, Mar 2015
There is also locus heterogeneity because mutation of the MRE11 gene can cause an obvious A-T like disorder both clinically and also at the cellular level and mutation of the RNF168 gene results in a much milder clinical phenotype, neurologically, with the major clinical feature being an immunological defect.
RNF168 ubiquitinates K13-15 on H2A/H2AX to drive DNA damage signaling.
Amsterdam, Netherlands. In Cell, 2012
Ubiquitin-dependent signaling during the DNA damage response (DDR) to double-strand breaks is initiated by two E3 ligases, RNF8 and RNF168, targeting histone H2A and H2AX. Study shows that ubiquitin chains per se are insufficient for signaling, but RNF168 target ubiquitination is required for DDR.
Close encounters of the RNF8th kind: when chromatin meets DNA repair.
Leiden, Netherlands. In Curr Opin Cell Biol, 2012
Emerging evidence suggests that the histone ubiquitin ligases RNF8/RNF168 act in concert with ATP-dependent chromatin remodelling enzymes to orchestrate the signalling and repair of DNA lesions in specific chromatin topologies.
Fusing telomeres with RNF8.
Amsterdam, Netherlands. In Nucleus, 2012
DNA repair activities at DNA double-strand breaks (DSBs) are under control of regulatory ubiquitylation events governed by the RNF8 and RNF168 ubiquitin-ligases.