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Molecular mechanisms underlying Zic2-associated holoprosencephaly

19th national competition for scientific and technical research

Rare diseases

Senior Researcher : Eloisa Herrera González de Molina

Research Centre or Institution : Instituto de Neurociencias. CSIC-Universidad Miguel Hernández. Alicante.


Mutations in the gene ZIC2 cause holoprosencephaly type 5 (HPE5) and other neurodevelopmental disorders. However, the mechanisms that translate these mutations into pathologies remain unclear and this the main objective of the project. Along the last year we completed experiments that allowed us to demonstrate the essential role of this transcription factor in the epithelial-mesenchymal transition (EMT) process in different contexts including gastrulation and neurulation. We have also observed that ZIC2 induces a signaling cascade that culminates with an increase in the levels of βcatenin in the cytoplasm. This increase in cytoplasmic βcatenin is accompanied by a conformational change in the cell that becomes rounded state as a consequence of loss of adhesion. These results reveal the specific role of Zic2 in early development and indicate that this TF triggers cell detachment during gastrulation that leads to defects in the formation of the primitive streak which are probably the origin of HPE5.


Scientific Production
Magazine Articles 2
Communications at national conferences -
Communications at international conferences 3


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