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  3. Rbmx Functional Retrocopy Safeguards Brain Development In A Species-dependent Context.
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  3. Rbmx Functional Retrocopy Safeguards Brain Development In A Species-dependent Context.

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RBMX functional retrocopy safeguards brain development in a species-dependent context.

Pierre Tilliole1,2,3,4, Carolin Mattausch5, Peggy Tilly1,2,3,4

  • 1IGBMC, Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67400, Illkirch, France.

Brain : a Journal of Neurology
|June 26, 2026

View abstract on PubMed

Summary
This summary is machine-generated.

Retrotransposons create gene copies that can impact brain development. The RBMX gene

Keywords:
RBMXRBMXL1hnRNPneurodevelopmental disordersretrocopy

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Area of Science:

  • Genomics
  • Neuroscience
  • Evolutionary Biology

Background:

  • Retrotransposition generates numerous intronless gene copies in mammalian genomes.
  • The role of these retrocopies in brain development and evolution is understudied.
  • RBMX, an X-linked RNA-binding protein, has similar retrocopies (RBMXL1) suggesting functional importance.

Purpose of the Study:

  • To investigate the functional redundancy between RBMX and its retrocopy RBMXL1 in brain development.
  • To understand the mechanisms by which RBMX variants cause neurodevelopmental disorders.
  • To explore the role of retrocopies in mammalian brain evolution and robustness.

Main Methods:

  • Exome sequencing and GeneMatcher to identify individuals with RBMX variants.
  • Transcriptomic profiling, protein-protein, and protein-RNA interaction studies in human cells and mouse cortices.
  • Mouse genetics to study RBMX function and RBMXL1 compensation in corticogenesis.

    • Main Results:

    • Hemizygous RBMX variants cause neurodevelopmental disorders with intellectual disability and malformations.
    • RBMX variants disrupt cortical development via loss-of-function and gain-of-function mechanisms.
    • Rbmx-deficient mice show mild cortical abnormalities, indicating functional compensation by RBMXL1.

    Conclusions:

    • RBMX and RBMXL1 share protein and RNA partners, acting redundantly in brain development.
    • RBMXL1 buffers the effects of RBMX deficiency, contributing to neurodevelopmental robustness.
    • Functional retrocopies can facilitate mammalian brain evolution and diversify gene function.