The brain is the most complex organ in mammals and understanding this complexity has been a major challenge in the field. As part of the NeuroStemX project, we took advantage of in vivotransgenic labeling and next-generation sequencing to analyze the gene expression profiles of neural stem cells from wild type and Ski-deficient mice. Ski is a pivotal regulator of signal transduction and epigenetic process in many pathways.

Patients with 1p36 syndrome have a deletion of the Ski gene and are characterized by microcephaly, cranial malformations and intellectual disabilities. We have generated a unique dataset that includes the regulatory pathways affected by loss of Ski in the developing brain and found that Ski-deficient neural stem cells are locked in a prolonged neurogenic phase and fail to switch to the gliogenic fate.

Hence, the aim of this project is to unravel the mechanism by which Ski modulates the stem cell conversion from neuronal to glial differentiation.