Justin W Leung, Andrea Leitch, Jamie L Wood, Charles Shaw-Smith, Kay Metcalfe, Louise S Bicknell, Andrew P Jackson, Junjie Chen
Primary microcephaly is an autosomal recessive disorder characterized by marked reduction in human brain size. Microcephalin (MCPH1), one of the genes mutated in primary microcephaly, plays an important role in DNA damage checkpoint control and mitotic entry. Additionally, MCPH1 ensures the proper temporal activation of chromosome condensation during mitosis, by acting as a negative regulator of the condensin II complex. We previously found that deletion of the of the MCPH1 N terminus leads to the premature chromosome condensation (PCC) phenotype...
June 17, 2011: Journal of Biological Chemistry