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Expertises : Embryogenesis; Reproduction; Transgenesis; Neurodegenerative defects.

Overall activities   

We analyze the biological function of genes implicated in the development and tissue differentiation found associated with early developmental anomalies that may affect the nervous system.

Outstanding results 

• Link between SLC25A46 and axonopathie.
• Role of CEP250 in fertility.
• Peripheral asymptomatic replication of certain prions
• Link between PrP expression level and the nature of prion strains.Link between KIF1C and myelination defects

Scientific questions

1- Biological Functions of prion proteins in relation with different developmental anomalies
The Prion protein family all has three loci. In addition to the role of PrP in neuron pathologies, the roles of this family of proteins are currently being analyzed using a mouse model, to decipher: i) embryo tissue development and certain adult tissues, with a potential redundancy/antagonism between its different members, and ii) the resistance of certain viral pathogens.

2- Function of genes suspected to being implicated in bovine developmental genetic anomalies
The aim of these analyses is to use mouse modelling to validate and understand the potential link established from identified bovine genetic anomalies via ONAB, between certain loci and harmful developmental phenotypes. Severall genes are/have been analyzed:

• Function of the protein CEP250, associated with the Generalized Caprine-like Hypoplasia Syndrome (or SHGC)
• Function of the protein SLC25A46, related with the appearance of distal axonopathy
• Function of the protein KIF1C, associated with progressive ataxia
• Function of the protein MYH3, related with craniofacial development

3- Function of genes suspected to being implicated in fertility defects (azoospermia or teratospermia, embyo lethality)
The link between certain loci and anomalies of gonad development, either for embryo and embryo annexes development is studied using mice modeling. The origin of the genes studied are either from human or animal pathologies.

Research tools

• Transgenic mouse model

Member of the following doctoral school: SDSV (Structure and dynamics of living systems)

Member of the University Paris-Saclay