Bloom syndrome

Review on Bloom syndrome, with data on clinics, and the genes involved

BLM (Bloom)

Review on BLM (Bloom), with data on DNA, on the protein encoded, and where the gene is implicated

Bloom’s Syndrome and PICH Helicases Cooperate with Topoisomerase IIα in Centromere Disjunction before Anaphase

Centromeres are specialized chromosome domains that control chromosome segregation during mitosis, but little is known about the mechanisms underlying the maintenance of their integrity. Centromeric ultrafine anaphase bridges are physiological DNA structures thought to contain unresolved DNA catenations between the centromeres separating during anaphase. BLM and PICH helicases colocalize at these ultrafine anaphase bridges and promote their resolution. As PICH is detectable at centromeres from prometaphase onwards, we hypothesized that BLM might also be located at centromeres and that the two proteins might cooperate to resolve DNA catenations before the onset of anaphase. Using immunofluorescence analyses, we demonstrated the recruitment of BLM to centromeres from G2 phase to mitosis. With a combination of fluorescence in situ hybridization, electron microscopy, RNA interference, chromosome spreads and chromatin immunoprecipitation, we showed that both BLM-deficient and PICH-deficient prometaphase cells displayed changes in centromere structure. These cells also had a higher frequency of centromeric non disjunction in the absence of cohesin, suggesting the persistence of catenations. Both proteins were required for the correct recruitment to the centromere of active topoisomerase IIα, an enzyme specialized in the catenation/decatenation process. These observations reveal the existence of a functional relationship between BLM, PICH and topoisomerase IIα in the centromere decatenation process. They indicate that the higher frequency of centromeric ultrafine anaphase bridges in BLM-deficient cells and in cells treated with topoisomerase IIα inhibitors is probably due not only to unresolved physiological ultrafine anaphase bridges, but also to newly formed ultrafine anaphase bridges. We suggest that BLM and PICH cooperate in rendering centromeric catenates accessible to topoisomerase IIα, thereby facilitating correct centromere disjunction and preventing the formation of supernumerary centromeric ultrafine anaphase bridges

RECQL5 (RecQ protein-like 5)

Review on RECQL5 (RecQ protein-like 5), with data on DNA, on the protein encoded, and where the gene is implicated

Bloom syndrome

Review on Bloom syndrome, with data on clinics, and the genes involved

BLM (Bloom)

Review on BLM (Bloom), with data on DNA, on the protein encoded, and where the gene is implicated

RECQL (RecQ protein-like (DNA helicase Q1-like))

Review on RECQL (RecQ protein-like (DNA helicase Q1-like)), with data on DNA, on the protein encoded, and where the gene is implicated

Werner syndrome

Review on Werner syndrome, with data on clinics, and the genes involved