Chemical chaperone - sorbitol corrects cohesion and translational defects in the Roberts mutant

Abstract

AbstractCohesin protein complex plays a very important role in chromosome segregation transcription, DNA replication and chromosome condensation. Mutations in cohesin proteins give rise to a disease called Cohesinopathies. The major cause of cohesinopathies is due to defects associated with gene expression that give rise to developmental disorders. In this study we have used the yeast (Saccharomyces cerevisiae) strain to mimic the cohesinopathy disorder Roberts syndrome with mutations (eco1W216G) homologous to that of humans (esco2). We have used sorbitol, as a chemical chaperone, to check, if it can restore the chromosome segregation, gene expression misregulation and the translational defects. We have also checked levels of autophagy in the Roberts mutant and found that in samples treated with sorbitol the autophagy defects were corrected.Article HighlightsIn presence of sorbitol temperature sensitivity of the Roberts mutants is rescuedChromosome cohesion defect is reduced in presence of sorbitolTranslational defects are minimized in presence of sorbitolAutophagy enhances in presence of sorbitol