Coordinators: (General) Patrick Edery & Sylvie Mazoyer (CRNL Lyon, INSERM-CNRS-UCBL), (in Lyon) Vincent Lacroix BAOBAB-ERABLE Teams LBBE-UCBL-INRIA, (in Montpellier) Remi Bordonné IGMM CNRS, (in Paris) Anne-Louise Leutenegger U946 INSERM.
The aim of this proposal is to unravel the role played by minor splicing in embryonic development, with a focus on brain development. We will achieve this task through the study of rare malformation syndromes with abnormal brain development caused by a defect of U4atac snRNA, a component of the minor spliceosome. We will take advantage of our collective first-rate expertises on human syndromes, genomics, transcriptomics, bioinformatics, biochemistry and zebrafish model to perform a multidisciplinary research study aiming at understanding the physiopathology of brain malformations caused by RNU4ATAC-associated minor splicing defects. The present project will also help to improve the genetic counselling of the families concerned by a RNU4ATAC mutation or related disorders.