PUBLICATION

The microcephaly gene aspm is involved in brain development in zebrafish

Authors
Kim, H.T., Lee, M.S., Choi, J.H., Jung, J.Y., Ahn, D.G., Yeo, S.Y., Choi, D.K., and Kim, C.H.
ID
ZDB-PUB-110609-13
Date
2011
Source
Biochemical and Biophysical Research Communications   409(4): 640-4 (Journal)
Registered Authors
Ahn, Dae-gwon, Choi, Jung-Hwa, Kim, Cheol-Hee, Kim, Hyun-Taek, Lee, Mi-Sun, Yeo, Sang-Yeob
Keywords
Microcephaly; ASPM; CNS; Mitotic arrest; Zebrafish
MeSH Terms
  • Amino Acid Sequence
  • Animals
  • Brain/embryology*
  • Cell Cycle
  • Cell Cycle Proteins/genetics*
  • Gene Knockdown Techniques
  • Humans
  • Microcephaly/genetics*
  • Mitosis/genetics
  • Molecular Sequence Data
  • Organ Size/genetics
  • Zebrafish/embryology*
  • Zebrafish/genetics
  • Zebrafish Proteins/genetics*
(all 14)
PubMed
21620798 Full text @ Biochem. Biophys. Res. Commun.
Abstract
MCPH is a neurodevelopmental disorder characterized by a global reduction in cerebral cortical volume. Homozygous mutation of the MCPH5 gene, also known as ASPM, is the most common cause of the MCPH phenotype. To elucidate the roles of ASPM during embryonic development, the zebrafish aspm was identified, which is specifically expressed in proliferating cells in the CNS. Morpholino-mediated knock-down of aspm resulted in a significant reduction in head size. Furthermore, aspm-deficient embryos exhibited a mitotic arrest during early development. These findings suggest that the reduction in brain size in MCPH might be caused by lack of aspm function in the mitotic cell cycle and demonstrate that the zebrafish can provide a model system for congenital diseases of the human nervous system.
Genes / Markers
Marker Marker Type Name
aspmGENEassembly factor for spindle microtubules
her4.1GENEhairy-related 4, tandem duplicate 1
mib1GENEMIB E3 ubiquitin protein ligase 1
pcnaGENEproliferating cell nuclear antigen
1 - 4 of 4
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Figures
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Expression
Phenotype
Mutations / Transgenics
Allele Construct Type Affected Genomic Region
s843TgTransgenic Insertion
    ta52b
      Point Mutation
      1 - 2 of 2
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      Human Disease / Model
      No data available
      Sequence Targeting Reagents
      Target Reagent Reagent Type
      aspmMO1-aspmMRPHLNO
      1 - 1 of 1
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      Fish
      Antibodies
      No data available
      Orthology
      Engineered Foreign Genes
      Mapping