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. 2013 May 5;368(1617):20110399. doi: 10.1098/rstb.2011.0399

Table 1.

Summary of main reported mutations in Rvb1 and Rvb2 and their effect on the respective processes/complexes.

mutated protein: Rvb1 or Rvb2 complex studied cellular process involved mutation effect organism reference
Rvb1 interaction with c-Myc c-Myc-mediated cellular transformation Walker B mutant D302N inhibition of c-Myc-mediated cellular transformation but did not affect general growth of cells rat Wood et al. [7]
Rvb1 interaction with c-Myc c-Myc-mediated cellular transformation deletion of Walker A (Δ63–135) and Walker B (Δ290–366) motifs no effect on the binding to c-Myc rat Wood et al. [7]
both growth Walker A and Walker B incapable of supporting growth yeast Jonsson et al. [9]
Rvb1 R2TP? snoRNP biogenesis Walker A (K81A) inhibiting snoRNA production yeast King et al. [41]
Rvb2 interaction with ATF-2 DNA damage repair, apoptosis Walker B does not affect interaction with ATF-2 and still represses function of ATF-2 human cell lines Cho et al. [42]
Rvb2 Interaction with β-catenin expression of endogenous β-catenin/TCF target genes Liebeskummer (lik) : 9 bp insertion (FCR a.a.) enhanced ATPase activity leading to enhanced repression of β-catenin/TCF signalling leading to hyperplastic heart growth zebrafish Rottbauer et al. [43]
Rvb1 interaction with β-catenin β-catenin-mediated neoplastic transformation Walker B mutant D302N blocked expression of endogenous β-catenin/TCF target genes (e.g. ITF-2 and Axil) rat Feng et al. [44]
Rvb2 Ino80 chromatin remodelling Walker B no effect on recruitment of Arp5 to the Ino80 complex. No effect on chromatin remodelling function of the complex yeast Jonsson et al. [45]
both interaction with c-Myc cell proliferation deletion of Walker A (Δ70–77 in Rvb1, Δ76–83 in Rvb2) and Walker B (Δ302–306 in Rvb1 and Δ299–303 in Rvb2) motifs deletion mutants lacking WA or WB motifs did not affect cell division. Therefore not crucial in stimulating cell proliferation Xenopus Etard et al. [46]
both PcG and TrxG Hox gene transcription ATPase domain abolish normal control of Hox gene expression Drosophila Diop et al. [47]
Rvb1 telomerase biogenesis Walker B D302N telomerase synthesis could not be rescued by expression of ATPase-deficient Rvb1 human cell lines Venteicher et al. [33]
Rvb2 interaction with Influenza virus A polymerase viral RNA synthesis Walker B does not affect interaction with the polymerase and still inhibits its activity human cell lines Kakugawa et al. [48]
both PIKKs signalling Walker B PIKKs expression could not be rescued by the ATPase-deficient Rvbs human cell lines Izumi et al. [29]
Rvb1 PIKKs signalling Walker B SMG-1–mediated Upf1 phosphorylation could not be rescued by the expression of Walker B mutant of Rvb1 human cell lines Izumi et al. [29]
both truncation of one third of insertion domain enhanced ATPase and helicase activity of the complex in vitro Gorynia et al. [35]