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Yap haploinsufficiency leads to Müller cell dysfunction and late-onset cone dystrophy

Christel Masson1, Diana García-García2, Juliette Bitard2

  • 1Paris-Saclay Institute of Neuroscience, CERTO-Retina France, CNRS, Université Paris-Saclay, Orsay, 91405, France. christel.masson-garcia@universite-paris-saclay.fr.

Cell Death & Disease
|August 18, 2020
PubMed

Insights

YAP haploinsufficiency in aged mice causes Müller glia dysfunction and cone degeneration. This highlights YAP's role in maintaining retinal health and suggests a link to human cone dystrophies.

Area of Science:

  • Ophthalmology
  • Developmental Biology
  • Cell Biology

Background:

  • Hippo signaling, involving YAP and TAZ, controls eye growth during embryogenesis.
  • In adult retinas, YAP is primarily expressed in Müller glia, suggesting a role in neural retina maintenance.

Purpose of the Study:

  • To investigate the function of YAP in adult Müller glia.
  • To understand the consequences of YAP haploinsufficiency in the aging retina.

Main Methods:

  • Utilized a Yap heterozygous mouse model.
  • Examined gene compensation dynamics, including TAZ upregulation.
  • Assessed Müller glia function, cone degeneration, and visual response in aged Yap+/- mice.
  • Generated Müller cell-specific conditional Yap-knockout mice.

Main Results:

  • Postnatal Yap+/- retinas show TAZ upregulation and enhanced EGFR signaling.
  • Adult Yap+/- retinas lack TAZ-dependent compensation.
  • Aged Yap+/- mice exhibit Müller glia dysfunction, late-onset cone degeneration, and reduced cone vision.
  • Conditional Yap knockout in Müller glia also leads to glial homeostasis and cone opsin alterations.

Conclusions:

  • YAP has a novel function in Müller glia for maintaining retinal homeostasis and cone integrity.
  • YAP haploinsufficiency is a potential cause of age-related cone dystrophies in humans.

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