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Institut Jacques Monod
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Molecular Oncology and Ovarian Pathologies

Reiner A. VEITIA

Our team focuses on the study of ovarian development and function through molecular genetics. Our research is carried out through the molecular analysis of different pathologies such as the blepharophimosis syndrome, premature ovarian insufficiency (POI) or granulosa cell tumors, affecting one of the somatic cell types of the ovary. One of the historical topics of the group is the analysis of the blepharophimosis syndrome, involving craniofacial anomalies and POI, due to alterations in the transcription factor (TF) FOXL2. Over the years, we have contributed to a better understanding of its molecular function, pathogenic mechanisms, targets and partners. We use FOXL2 as a model to explore the basis of the specific recognition of a target by a TF and the influence of partners and post-translational modifications in this process. We are also investigating the involvement of FOXL2 in adult granulosa cell tumors (AGCT). Indeed, a recurrent somatic mutation in FOXL2, leading to the p.C134W substitution has been detected in more than 97% of AGCTs, suggesting that this mutation is a key element (driver) in their formation. We are actively studying the pathogenic mechanisms of this mutation using CRISPR-Cas9 modified cell lines, an animal model and genomic tools. For the juvenile form of GCTs, we have recently reported the presence of insertions in the AKT1 oncogene that are likely responsible for the tumors, paving the way for further research. Finally, we are taking advantage of the power of current genomic technology to perform exome sequencing in familial and isolated cases of POI to uncover genes whose mutations are responsible for this condition. We have thus shown the involvement in POI of genes such as STAG3 or more recently MEIOB.

Keywords: Ovary, transcription factor, gene regulation, omics analysis, IOP, cancer

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