Análisis funcional de MCPH1 en la condensación cromosómica y el control del ciclo celular

Abstract

MCPH1 is one of the genes mutated in primary microcephaly, a rare syndrome consequence of alterations during neurogenesis that result in a drastic reduction of brain size and mental retardation. Unlike the rest of MCPH genes identified, patient cells with mutations in MCPH1 show alterations during the cell cycle observable in all cell types. Therefore, the importance of this gene goes beyond its role as regulator of human neurogenesis, being a key element for coupling chromosome condensation with other processes involved in mitosis. In addition, MCPH1 function is important for the cellular response to DNA damage. According to these evidences, MCPH1 syndrome is an interesting model to get new insights into the molecular basis of mitotic cell division and its importance for human brain development. In this Phd. thesis it is presented new data about the specific functions of MCPH1 during mitosis and its contribution into the molecular pathways controlling mitosis onset in human cells.