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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.


Holoprosencephaly (HPE), a condition characterized by incomplete separation of the two hemispheres, is one of the most common structural abnormalities of the human brain. The gene that encodes the transcription factor (TF) ZIC2 is often mutated in patients with HPE. However, the molecular mechanisms by which ZIC2 deficiency leads to HPE and other pathologies associated with Zic2 remain unclear. During these initial months of the project, we have been able to demonstrate that Zic2 is expressed transiently in the cells of the three germ layers of the mouse epiblast, as well as in the pre-migratory neural crest cells, which are all pluripotent cells that undergo an epithelial-to-mesenchymal transition process. We have also analyzed the profiles of Zic2 occupation in mouse embryos during gastrulation or neurulation stages and we have seen that, instead of joining the enhancer regions, as previously published for embryonic stem cells, in epiblast and neural crest cells, Zic2 binds mainly to promoters and intragenic regions.

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