A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
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.
Bond
Jacquelyn
J
Molecular Medicine Unit, University of Leeds, St. James's University Hospital, Beckett Street, Leeds LS9 7TF, UK.
Roberts
Emma
E
Springell
Kelly
K
Lizarraga
Sofia B
SB
Lizarraga
Sophia
S
Scott
Sheila
S
Higgins
Julie
J
Hampshire
Daniel J
DJ
Morrison
Ewan E
EE
Leal
Gabriella F
GF
Silva
Elias O
EO
Costa
Suzana M R
SM
Baralle
Diana
D
Raponi
Michela
M
Karbani
Gulshan
G
Rashid
Yasmin
Y
Jafri
Hussain
H
Bennett
Christopher
C
Corry
Peter
P
Walsh
Christopher A
CA
Woods
C Geoffrey
CG
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
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