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Before mRNAs are exported to the cytoplasm, it is crucial to check each mRNA for structural and functional integrity. Eukaryotic cells use several different mechanisms, collectively known as mRNA surveillance, to look for irregularities in mRNAs. Irregular or aberrant mRNA are rapidly degraded by various enzymes. If a defective mRNA escapes the surveillance, it would be translated into a protein which would either be non-functional or not function properly. One of the primary irregularities in...
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The nucleus restricts several proteins within and allows others to pass. The restricted proteins possess a nuclear retention sequence or NRS, anchoring them to the nuclear lamins and preventing their transport to the cytosol. The non-restricted proteins, after their synthesis, are transported to their site of action, such as the cytosol or other organelles, with the help of nuclear export signals or NES.
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Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.

Raman Kumar1, Elizabeth Palmer2,3, Alison E Gardner1

  • 1Adelaide Medical School and the Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.

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|March 3, 2020
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Summary

Mutations in the THOC2 gene are linked to neurodevelopmental disorders (NDDs). This study identifies new THOC2 variants, revealing their impact on protein stability and the TREX complex, refining the NDD phenotype.

Keywords:
THOC2intellectual disabilitymRNA exportmicrodeletionneurodevelopmental disorders

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Area of Science:

  • Genetics
  • Molecular Biology
  • Neuroscience

Background:

  • Multiple TREX mRNA export complex subunits, including THOC2, are associated with neurodevelopmental disorders (NDDs), neurodegeneration, and cancer.
  • Previous research implicated THOC2 variants in NDDs and other clinical conditions.

Purpose of the Study:

  • To report new rare missense and deletion variants in the THOC2 gene.
  • To investigate the impact of these variants on THOC2 protein stability and the TREX complex.
  • To refine the clinical phenotype associated with THOC2-related NDDs.

Main Methods:

  • Identification and characterization of 10 individuals with rare missense THOC2 variants and one with a microdeletion.
  • Ex vivo variant testing and analysis of patient-derived cell lines.
  • Assessment of TREX complex stability in response to THOC2 variants.

Main Results:

  • Nine of 14 missense THOC2 variants led to reduced protein stability.
  • Splicing-defective and deletion variants caused loss of THOC2 RNA binding domain regions.
  • Reduced THOC2 stability destabilized the broader TREX complex, affecting other NDD-associated THOC subunits.

Conclusions:

  • THOC2 variants contribute to NDDs through impaired protein and TREX complex stability.
  • The core phenotype includes language disorder, intellectual disability (ID), and growth abnormalities.
  • A subset of patients exhibits severe phenotypes including profound ID, hypotonia, and respiratory issues, warranting further investigation.