CTNND2 moderates the pace of synaptic maturation and links human evolution to synaptic neoteny

Human-specific genes are potential drivers of brain evolution. Among them, SRGAP2C has contributed to the emergence of features characterizing human cortical synapses, including their extended period of maturation. SRGAP2C inhibits its ancestral copy, the postsynaptic protein SRGAP2A, but the synaptic molecular pathways differentially regulated in humans by SRGAP2 proteins remain largely unknown. Here, we identify CTNND2, a protein implicated in severe intellectual disability (ID) in Cri-du-Chat syndrome, as a major partner of SRGAP2. We demonstrate that CTNND2 slows synaptic maturation and promotes neuronal integrity. During postnatal development, CTNND2 moderates neuronal excitation and excitability. In adults, it supports synapse maintenance. While CTNND2 deficiency is deleterious and results in synaptic loss of SYNGAP1, another major ID-associated protein, the human-specific protein SRGAP2C, enhances CTNND2 synaptic accumulation in human neurons. Our findings suggest that CTNND2 regulation by SRGAP2C contributes to synaptic neoteny in humans and link human-specific and ID genes at the synapse.

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Publication Details

Journal
Cell Reports
Published
2024-09-30
DOI
https://doi.org/10.1016/j.celrep.2024.114797
Citations
20
Primary Topic
Genetics, Aging, and Longevity in Model Organisms
Type
article
Field-Weighted Citation Impact
4.56

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article

CTNND2 moderates the pace of synaptic maturation and links human evolution to synaptic neoteny

Damarys Loew, Nora Assendorp, Matteo Fossati, Pierre Vanderhaeghen et al.
20 citations
Cell Reports
Genetics, Aging, and Longevity in Model Organisms
4.56
article

CTNND2 moderates the pace of synaptic maturation and links human evolution to synaptic neoteny

Damarys Loew, Nora Assendorp, Matteo Fossati, Pierre Vanderhaeghen, Florent Dingli, Marine Depp, Cécile Charrier, Baptiste Libé-Philippot, Roberta Rapone, Eirini Christopoulou
article en
20 citations

Abstract

Human-specific genes are potential drivers of brain evolution. Among them, SRGAP2C has contributed to the emergence of features characterizing human cortical synapses, including their extended period of maturation. SRGAP2C inhibits its ancestral copy, the postsynaptic protein SRGAP2A, but the synaptic molecular pathways differentially regulated in humans by SRGAP2 proteins remain largely unknown. Here, we identify CTNND2, a protein implicated in severe intellectual disability (ID) in Cri-du-Chat syndrome, as a major partner of SRGAP2. We demonstrate that CTNND2 slows synaptic maturation and promotes neuronal integrity. During postnatal development, CTNND2 moderates neuronal excitation and excitability. In adults, it supports synapse maintenance. While CTNND2 deficiency is deleterious and results in synaptic loss of SYNGAP1, another major ID-associated protein, the human-specific protein SRGAP2C, enhances CTNND2 synaptic accumulation in human neurons. Our findings suggest that CTNND2 regulation by SRGAP2C contributes to synaptic neoteny in humans and link human-specific and ID genes at the synapse.

Cell ReportsVol. 43(10)
Centre National de la Recherche Scientifique (FR), Inserm (FR), Université Paris Sciences et Lettres (FR), École Normale Supérieure - PSL (FR), Institut de Biologie de l'École Normale Supérieure (FR), Institut Curie (FR)
Agence Nationale de la Recherche, Institut National de la Santé et de la Recherche Médicale, Fonds Wetenschappelijk Onderzoek, Centre National de la Recherche Scientifique, H2020 European Research Council
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Genetics, Aging, and Longevity in Model Organisms
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