Angelman Syndrome Protein UBE3A Interacts with Primary Microcephaly Protein ASPM, Localizes to Centrosomes and Regulates Chromosome Segregation
2011

UBE3A and ASPM: Interactions in Microcephaly

publication 10 minutes Evidence: moderate

Author Information

Author(s): Singhmar Pooja, Kumar Arun

Primary Institution: Indian Institute of Science, Bangalore, Karnataka, India

Hypothesis

The study investigates the interaction between the Angelman syndrome protein UBE3A and the primary microcephaly protein ASPM and its implications for chromosome segregation.

Conclusion

UBE3A is linked to chromosome segregation and its loss leads to abnormal cytokinesis and increased apoptosis, suggesting a role in microcephaly development.

Supporting Evidence

  • UBE3A interacts with ASPM, which is crucial for proper chromosome segregation.
  • Loss of UBE3A leads to increased apoptosis in cells.
  • UBE3A is localized to centrosomes during mitosis, similar to ASPM.

Takeaway

This study shows that a protein called UBE3A helps another protein, ASPM, do its job during cell division, and when UBE3A doesn't work right, it can cause problems in brain development.

Methodology

The researchers used yeast two-hybrid analysis to identify interactions between UBE3A and ASPM, and conducted various assays including Western blotting and immunofluorescence to study their functions.

Limitations

The study was conducted in an embryonic kidney cell line, and further research is needed to confirm findings in neuronal progenitor cells.

Digital Object Identifier (DOI)

10.1371/journal.pone.0020397

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