Ontology highlight
ABSTRACT:
SUBMITTER: Nicholas AK
PROVIDER: S-EPMC5605390 | biostudies-literature | 2010 Nov
REPOSITORIES: biostudies-literature
Nicholas Adeline K AK Khurshid Maryam M Désir Julie J Carvalho Ofélia P OP Cox James J JJ Thornton Gemma G Kausar Rizwana R Ansar Muhammad M Ahmad Wasim W Verloes Alain A Passemard Sandrine S Misson Jean-Paul JP Lindsay Susan S Gergely Fanni F Dobyns William B WB Roberts Emma E Abramowicz Marc M Woods C Geoffrey CG
Nature genetics 20101003 11
Autosomal recessive primary microcephaly (MCPH) is a disorder of neurodevelopment resulting in a small brain. We identified WDR62 as the second most common cause of MCPH after finding homozygous missense and frame-shifting mutations in seven MCPH families. In human cell lines, we found that WDR62 is a spindle pole protein, as are ASPM and STIL, the MCPH7 and MCHP7 proteins. Mutant WDR62 proteins failed to localize to the mitotic spindle pole. In human and mouse embryonic brain, we found that WDR ...[more]