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Moyamoya disease-associated protein mysterin/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric

Daisuke Morito1, Kouki Nishikawa2, Jun Hoseki3

  • 1Laboratory of Molecular and Cellular Biology, Faculty of Life Sciences, Kyoto Sangyo University, Kyoto 603-8555, Japan.

Scientific Reports
|March 25, 2014
PubMed

Insights

Moyamoya disease is linked to the RNF213 gene. This protein acts as a ubiquitin ligase and AAA+ ATPase, forming ring structures crucial for vascular development.

Area of Science:

  • Biochemistry
  • Molecular Biology
  • Genetics

Background:

  • Moyamoya disease is a cerebrovascular disorder characterized by progressive stenosis and abnormal collateral vessels.
  • The RNF213 gene (mysterin) was recently identified as the first susceptibility gene for Moyamoya disease.
  • RNF213 encodes a large protein with P-loop ATPase and ubiquitin ligase domains, essential for vascular development in zebrafish.

Purpose of the Study:

  • To elucidate the structural and functional characteristics of the mysterin/RNF213 protein.
  • To investigate the role of mysterin/RNF213 in cellular mechanical processes related to vascular development.

Main Methods:

  • Biochemical assays to characterize protein domains and enzymatic activity.
  • Fluorescence correlation spectroscopy to analyze protein oligomerization dynamics.
  • Structural analysis to identify ATPase modules and complex formation.

Main Results:

  • Mysterin/RNF213 possesses two tandem AAA+ ATPase modules and forms large, ring-shaped oligomeric complexes.
  • The protein's oligomeric state dynamically changes in response to ATP/ADP binding and hydrolysis.
  • These findings highlight a unique dual function of RNF213 as both a ubiquitin ligase and an AAA+ ATPase.

Conclusions:

  • The moyamoya disease-associated gene product, mysterin/RNF213, is a unique protein with AAA+ ATPase and ubiquitin ligase activities.
  • Its ability to form dynamic ring structures suggests a role in mechanical processes vital for vascular development.
  • Understanding RNF213's function provides insights into the molecular mechanisms underlying Moyamoya disease.

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