title: A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
abstract: Autosomal recessive primary microcephaly is a potential model in which to research genes involved in human brain growth. We show that two forms of the disorder result from homozygous mutations in the genes CDK5RAP2 and CENPJ. We found neuroepithelial expression of the genes during prenatal neurogenesis and protein localization to the spindle poles of mitotic cells, suggesting that a centrosomal mechanism controls neuron number in the developing mammalian brain.
authors.affiliation: Molecular Medicine Unit, University of Leeds, St. James's University Hospital, Beckett Street, Leeds LS9 7TF, UK.
authors.forename: Jacquelyn
authors.initials: J
authors.lastname: Bond
authors.forename: Emma
authors.initials: E
authors.lastname: Roberts
authors.forename: Kelly
authors.initials: K
authors.lastname: Springell
authors.forename: Sofia B
authors.initials: SB
authors.lastname: Lizarraga
authors.forename: Sophia
authors.initials: S
authors.lastname: Lizarraga
authors.forename: Sheila
authors.initials: S
authors.lastname: Scott
authors.forename: Julie
authors.initials: J
authors.lastname: Higgins
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Hampshire
authors.forename: Ewan E
authors.initials: EE
authors.lastname: Morrison
authors.forename: Gabriella F
authors.initials: GF
authors.lastname: Leal
authors.forename: Elias O
authors.initials: EO
authors.lastname: Silva
authors.forename: Suzana M R
authors.initials: SM
authors.lastname: Costa
authors.forename: Diana
authors.initials: D
authors.lastname: Baralle
authors.forename: Michela
authors.initials: M
authors.lastname: Raponi
authors.forename: Gulshan
authors.initials: G
authors.lastname: Karbani
authors.forename: Yasmin
authors.initials: Y
authors.lastname: Rashid
authors.forename: Hussain
authors.initials: H
authors.lastname: Jafri
authors.forename: Christopher
authors.initials: C
authors.lastname: Bennett
authors.forename: Peter
authors.initials: P
authors.lastname: Corry
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Walsh
authors.forename: C Geoffrey
authors.initials: CG
authors.lastname: Woods
mesh_terms: D000818:Animals; D001921:Brain / Q000033:anatomy & histology*; D018797:Cell Cycle Proteins; D018385:Centrosome / Q000502:physiology*; D005260:Female; D018507:Gene Expression Regulation, Developmental; D005808:Genes, Recessive; D006367:HeLa Cells; D006720:Homozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D051379:Mice; D008831:Microcephaly / Q000235:genetics*; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008938:Mitosis / Q000502:physiology; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009474:Neurons / Q000166:cytology* / Q000502:physiology; D010375:Pedigree; D008941:Spindle Apparatus / Q000502:physiology
chemical_list: C405929:CDK5RAP2 protein, human; C414735:CENPJ protein, human; D018797:Cell Cycle Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008869:Microtubule-Associated Proteins; D009419:Nerve Tissue Proteins