Final Report Summary - CFMHE (Cohesin functions and mechanisms in higher eukaryotes)
The molecular mechanisms of developmental diseases
It is an essential biomedical endeavour to understand the molecular etiology of developmental diseases, aneuploidies like Down syndrome and cancers. Two developmental disorders, namely Cornelia de Lange and Roberts syndromes, are genetically linked to the ring-shaped protein molecule called cohesin and are caused respectively by the loss of function of one of the two genetic copies of NIPBL (a cohesin loading factor), and the loss of both genetic copies of the acetyltransferase ESCO2 (a cohesin modifying enzyme).
The project 'Cohesin functions and mechanisms in higher eukaryotes' (CFMHE) uses the fruit fly Drosophila melanogaster as a model organism and recently revealed molecular insights into the dynamic steady state of cohesin's chromatin loading and release in post-mitotic tissues (EMBO J., 2013). The precise values and regulation of these loading and release rates may have important pathological consequences regarding the onset of developmental disorders.
CFMHE is coordinated at the University of Oxford and funded by the European Commission's Seventh Framework Programme (FP7) Marie Curie actions.
It is an essential biomedical endeavour to understand the molecular etiology of developmental diseases, aneuploidies like Down syndrome and cancers. Two developmental disorders, namely Cornelia de Lange and Roberts syndromes, are genetically linked to the ring-shaped protein molecule called cohesin and are caused respectively by the loss of function of one of the two genetic copies of NIPBL (a cohesin loading factor), and the loss of both genetic copies of the acetyltransferase ESCO2 (a cohesin modifying enzyme).
The project 'Cohesin functions and mechanisms in higher eukaryotes' (CFMHE) uses the fruit fly Drosophila melanogaster as a model organism and recently revealed molecular insights into the dynamic steady state of cohesin's chromatin loading and release in post-mitotic tissues (EMBO J., 2013). The precise values and regulation of these loading and release rates may have important pathological consequences regarding the onset of developmental disorders.
CFMHE is coordinated at the University of Oxford and funded by the European Commission's Seventh Framework Programme (FP7) Marie Curie actions.