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The gene encoding the main signaling molecules of the Wnt signaling pathways (the Wnt proteins) was discovered almost four decades ago by Nüsslein-Volhard and Wieschaus. They identified and originally named the gene "wingless" (wg) after a phenotype discovered during their landmark genetic screen in Drosophila for body pattern defects. At around the same time, another researcher named Harold Varmus found that a murine tumor virus activates the mammalian wg homolog, Int-1, which...
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WNT signalling control by KDM5C during development affects cognition.

Violetta Karwacki-Neisius1, Ahram Jang2,3, Engin Cukuroglu4

  • 1Division of Newborn Medicine and Epigenetics Program, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. violetta.karwacki-neisius@childrens.harvard.edu.

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KDM5C gene mutations cause intellectual disability by disrupting neurodevelopment timing. Restoring WNT signaling temporarily during development can correct cellular changes and rescue cognitive deficits.

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • KDM5C mutations are common in X-linked intellectual disability, but the underlying mechanisms are unclear.
  • Understanding KDM5C's role is crucial for addressing cognitive impairments.

Purpose of the Study:

  • To elucidate the function of KDM5C in neurodevelopment and its link to intellectual disability.
  • To investigate the molecular mechanisms by which KDM5C mutations lead to cognitive impairment.

Main Methods:

  • Utilized human patient-derived induced pluripotent stem cells and Kdm5c knockout mouse models.
  • Conducted cellular, transcriptomic, chromatin, and behavioral analyses.
  • Investigated the role of WNT signaling pathway modulation.

Main Results:

  • Identified KDM5C as a critical regulator of neurodevelopmental timing.
  • Demonstrated KDM5C's direct control over WNT output during a specific developmental window.
  • Showed that transient WNT pathway modulation can rescue cellular and behavioral deficits associated with KDM5C disruption.

Conclusions:

  • KDM5C acts as a safeguard for proper neurodevelopmental timing, and its disruption causes intellectual disability.
  • Transient WNT signaling modulation offers a potential therapeutic strategy for KDM5C-associated intellectual disability.
  • Revealed the transient nature of WNT signaling in influencing long-lasting cognitive functions like memory and anxiety.