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The Ciliopathy Gene Ftm/Rpgrip1l Controls Mouse Forebrain Patterning via Region-Specific Modulation of Hedgehog/Gli

Abraham Andreu-Cervera1, Isabelle Anselme1, Alice Karam1

  • 1Sorbonne Université, Centre National de la Recherche Scientifique (CNRS) UMR7622, Institut national pour la Santé et la Recherche Médicale U1156, Institut de Biologie Paris Seine-Laboratoire de Biologie du Développement (IBPS-LBD), 75005 Paris, France.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|January 30, 2019
PubMed
Summary

Primary cilia are crucial for forebrain development, regulating Hedgehog/Gli signaling. Disrupting the Ftm/Rpgrip1l gene causes severe defects in diencephalon, hypothalamus, and eye formation in mice.

Keywords:
Hedgehog/Gli signalingRpgrip1lciliopathyforebrain patterningprimary cilia

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Area of Science:

  • Developmental Biology
  • Cell Biology
  • Genetics

Background:

  • Primary cilia are essential for central nervous system (CNS) development, particularly in patterning the spinal cord and telencephalon through Hedgehog/Gli signaling.
  • Disruption of Hedgehog/Gli signaling is implicated in human forebrain malformations, yet the role of primary cilia in forebrain morphogenesis beyond the telencephalon remains understudied.
  • Ciliopathies, diseases arising from primary cilia dysfunction, often present with complex developmental abnormalities.

Purpose of the Study:

  • To investigate the role of the ciliopathy gene Ftm/Rpgrip1l in the development of the diencephalon, hypothalamus, and eyes.
  • To elucidate the mechanisms by which primary cilia regulate forebrain development, focusing on Hedgehog/Gli signaling.
  • To assess the impact of Ftm/Rpgrip1l disruption on specific forebrain structures and associated signaling pathways.

Main Methods:

  • Analysis of Ftm/Rpgrip1l mutant mice (Ftm-/-) to examine forebrain development at the end of gestation.
  • Assessment of morphological defects in the diencephalon, hypothalamus, and eyes.
  • In situ hybridization and Gli activity assays to evaluate Hedgehog/Gli signaling pathway components (Shh, Gli).
  • Genetic rescue experiments involving the reintroduction of Gli3 repressor forms.

Main Results:

  • Ftm-/- fetuses exhibited anophthalmia (absence of eyes), reduced ventral hypothalamus, and disorganized diencephalic nuclei and axonal tracts.
  • Ventral forebrain structures and rostral thalamus were absent in Ftm-/- embryos; optic vesicles failed to form optic cups.
  • Sonic hedgehog (Shh) expression was lost in the ventral forebrain but maintained in the zona limitans intrathalamica (ZLI); Gli activity was downregulated.
  • Restoration of optic cup formation was achieved by reintroducing the repressor form of Gli3 in Ftm-/- embryos.

Conclusions:

  • Primary cilia play a complex, region-specific role in diencephalon, hypothalamus, and eye development by modulating the activator/repressor ratio of Gli transcription factors.
  • These findings highlight the necessity of examining forebrain defects in severe ciliopathies.
  • Ciliopathy genes may act as modifiers in other human conditions associated with forebrain development defects.