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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders

Margaret Gadek1, Elliott H Sherr2, Stephen N Floor3

  • 1Department of Cell and Tissue Biology, University of California, San Francisco, CA 94143, USA.

Trends in Molecular Medicine
|July 8, 2023
PubMed

Insights

The DEAD-box RNA helicase DDX3X is crucial for RNA processing and linked to various diseases. Sex differences in DDX3X-related conditions may stem from its X and Y paralogs, DDX3X and DDX3Y.

Area of Science:

  • Molecular Biology
  • Genetics
  • RNA Biology

Background:

  • Proteins are essential for the RNA life cycle.
  • DDX3X, an X-linked DEAD-box RNA helicase, plays a central role in RNA processing.
  • DDX3X is implicated in cancer and the neurodevelopmental disorder DDX3X syndrome.

Purpose of the Study:

  • To review the function of DDX3X and its Y-linked paralog, DDX3Y.
  • To discuss the contribution of mutation type and sex bias to DDX3X-related human diseases.
  • To explore potential DDX3X-targeting treatments.

Main Methods:

  • Literature review of DDX3X and DDX3Y functions.
  • Analysis of mutational landscapes in DDX3X-related diseases.
  • Review of existing and potential therapeutic strategies.

Main Results:

  • DDX3X is vital for RNA metabolism and implicated in diverse pathologies.
  • Sex differences in DDX3X-related conditions may arise from DDX3X/DDX3Y expression or functional disparities.
  • Distinct mutational patterns suggest varied roles for DDX3X in different diseases.

Conclusions:

  • Understanding DDX3X function is key to comprehending its role in disease.
  • Investigating DDX3X and DDX3Y interactions and sex-specific effects is crucial.
  • Targeting DDX3X presents a promising avenue for therapeutic intervention.
Keywords:
DDX3XRNA helicasecancerdevelopmental disordersrare diseasesex-linked

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