... to regulate their length. Nevertheless, the conserved C-terminal glycine-rich G-box of CPAP, which interacts with the centriole inner cartwheel protein STIL, is frequently mutated in primary microcephaly (MCPH) patients. Here, we show that two different MCPH-associated variants, E1235V and D1196N in the CPAP...

...Elsa A. Tungadi; Ami Ito; Tomomi Kiyomitsu; Gohta Goshima ABSTRACT Nonsense mutations in the ASPM gene have been most frequently identified among familial microcephaly patients. Depletion of the Drosophila orthologue ( asp ) causes spindle pole unfocusing during mitosis in multiple cell types...

... to the development of human microcephaly, and CIT-K has been identified as a potential target in cancer therapy. In this Commentary, I describe and re-evaluate the functions and regulation of CIT-K during cell division and its involvement in human disease. Finally, I offer my perspectives on the open questions...

... (CENPJ), SAS6, CEP192, CEP152 and CEP135 have thus far been identified to be required for centriole duplication. STIL (SCL/TAL1 interrupting locus, also known as SIL) is a centrosomal protein that is essential for mouse and zebrafish embryonic development and mutated in primary microcephaly. Here, we...

...Daiju Kitagawa; Gregor Kohlmaier; Debora Keller; Petr Strnad; Fernando R. Balestra; Isabelle Flückiger; Pierre Gönczy Patients with MCPH (autosomal recessive primary microcephaly) exhibit impaired brain development, presumably due to the compromised function of neuronal progenitors. Seven MCPH loci...

...Jamie L. Rickmyre; Shamik DasGupta; Danny Liang-Yee Ooi; Jessica Keel; Ethan Lee; Marc W. Kirschner; Scott Waddell; Laura A. Lee Mutation of human microcephalin ( MCPH1 ) causes autosomal recessive primary microcephaly, a developmental disorder characterized by reduced brain size. We identified...