engleski

Cep63 plays multiple roles in mammalian development

Human microcephaly results primarily from mutations in genes that affect the DNA damage response (DDR) or centrosome function. The centrosomal protein Cep63 was identified as a mitotic target of the ATM/ATR dependent response to DNA damage and has recently been identified in patients presenting with a mild form of Seckel syndrome, characterized by short stature and microcephaly. To study the possible connection between DDR and centrosome, we have generated gene-trap mice lacking Cep63 expression. These animals are smaller than their littermates and develop microcephaly that is accompanied by the loss of neuronal progenitors during their embryonic development. Furthermore, Cep63 gene-trap males are infertile with marked reduction in testis size as well as severe problems in meiosis progression. Current results from the ongoing characterization will be presented.

centrosome ; microcephaly ; meiosis ; mitosis

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