(3) SMC protein complexes and human diseases
Recent studies have uncovered an exciting set of samples in which misregulation of cohesin or condensin might be associated with developmental diseases in humans. For example, haploinsufficiency of a cohesin regulator (NIPBL/Nipped-B/Scc2) causes Cornelia de Lange syndrome, whereas mutations in the cohesion establishment factor ESCO-2 lead to Roberts syndrome. Evidence is also available that condensin II is negatively regulated by MCPH1 whose mutations cause primary microcephaly (a developmental disorder characterized by a marked reduction in brain size) in humans. We are interested in understanding how MCPH1 might regulate condensin II during the cell cycle in normal cells, and how deregulation of such a process might specifically affect neurogenesis.
