title: An MCM4 mutation detected in cancer cells affects MCM4/6/7 complex formation.
abstract: An MCM4 mutation detected in human cancer cells from endometrium was characterized. The mutation of G486D is located within MCM-box and the glycine at 486 in human MCM4 is conserved in Saccharomyces cerevisiae MCM4 and Sulfolobus solfataricus MCM. This MCM4 mutation affected human MCM4/6/7 complex formation, since the complex containing the mutant MCM4 protein is unstable and the mutant MCM4 protein is tend to be degraded. It is likely that the MCM4 mutation affects the interaction with MCM7 to destabilize the MCM4/6/7 complex. Cells with abnormal nuclear morphology were detected when the mutant MCM4 was expressed in HeLa cells, suggesting that DNA replication was perturbed in the presence of the mutant MCM4. Role of the conserved amino acid in MCM4 function is discussed.
authors: Ruriko
authors: R
authors: Tatsumi
authors: Yukio
authors: Y
authors: Ishimi
mesh_terms: D006367:HeLa Cells; D006801:Humans; D064148:Minichromosome Maintenance Complex Component 4 / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D064151:Minichromosome Maintenance Complex Component 6 / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D064168:Minichromosome Maintenance Complex Component 7 / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D046912:Multiprotein Complexes / Q000737:chemistry* / Q000235:genetics* / Q000378:metabolism; D050505:Mutant Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D009154:Mutation; D055550:Protein Stability
chemical_list: D046912:Multiprotein Complexes; D050505:Mutant Proteins; C099243:MCM4 protein, human; C103258:MCM6 protein, human; C101624:MCM7 protein, human; D064148:Minichromosome Maintenance Complex Component 4; D064151:Minichromosome Maintenance Complex Component 6; D064168:Minichromosome Maintenance Complex Component 7
keywords: DNA helicase; mutation of MCM4/MCM4/6/7 complex