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Formation of tRNA Wobble Inosine in Humans Is Disrupted by a Millennia-Old Mutation Causing Intellectual Disability.

Jillian Ramos1,2, Lu Han2,3, Yan Li1,2

  • 1Department of Biology, University of Rochester, Rochester, New York, USA.

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|July 3, 2019
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Summary

A mutation in ADAT3 causes intellectual disability by disrupting tRNA modification. This study reveals ADAT3-V144M impairs wobble inosine formation and neurodevelopment.

Keywords:
RNA editingadenosine deaminaseinosineintellectual disabilitymolecular geneticsneurodevelopmenttRNAtRNA modification

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Area of Science:

  • Biochemistry
  • Genetics
  • Neuroscience

Background:

  • Inosine formation at the tRNA wobble position is vital for eukaryotic translation.
  • A common ADAT3 mutation (V144M) causes autosomal recessive intellectual disability in Arabia.
  • The molecular impact of the ADAT3-V144M mutation on tRNA modification and neurodevelopment remains unclear.

Purpose of the Study:

  • To investigate the molecular and cellular consequences of the ADAT3-V144M mutation.
  • To elucidate the role of ADAT3 folding in tRNA modification and neurodevelopment.

Main Methods:

  • Analysis of cell lines from intellectual disability patients expressing ADAT3-V144M.
  • Measurement of tRNA deaminase activity in cell extracts.
  • Biochemical characterization of purified ADAT2/ADAT3-V144M complexes.
  • Investigation of ADAT3-V144M aggregation and interaction with chaperonins.

Main Results:

  • ID-patient derived cell lines showed reduced wobble inosine levels and tRNA deaminase activity.
  • Purified ADAT2/ADAT3-V144M complexes exhibited impaired enzymatic activity.
  • ADAT3-V144M displayed increased aggregation, which was mitigated by ADAT2 overexpression.
  • ADAT2-dependent folding of ADAT3 is critical for wobble inosine modification.

Conclusions:

  • The ADAT3-V144M mutation disrupts the formation of the active ADAT2/ADAT3 complex, impairing tRNA modification.
  • Proper folding and assembly of the ADAT2/ADAT3 complex are essential for neurodevelopment.