Tania Bose

TL;DR: Nuclear morphology, chromosomal condensation, and transcriptional-mediated localization of genes to the nuclear periphery are disturbed by mutations in cohesin pathway genes.

TL;DR: The cohesin protein complex is best known for its role in sister chromatid cohesion, which is crucial for accurate chromosome segregation, implying a role for cohesIn in genome organization.

TL;DR: It is demonstrated that the cohesinopathy mutations eco1-W216G and smc1-Q843Δ are associated with defects in ribosome biogenesis and a reduction in the actively translating fraction of ribosomes, eiF2α-phosphorylation, and 35S-methionine incorporation, all of which indicate a deficit in protein translation.

TL;DR: Structural changes in fructose-modified hemoglobin (Fr-Hb) are demonstrated by enhanced fluorescence emission with excitation at 285 nm, more surface accessible tryptophan residues by using acrylamide, changes in secondary and tertiary structures by CD spectroscopy, and increased thermolability by using differential scanning calorimetry.

TL;DR: A mutation in Eco1 that is associated with the human disease Roberts syndrome compromises looping interactions at the ribosomal DNA and transcription and depletion of cohesion in a single cell cycle disrupts nucleolar integrity.