Ricerc@Sapienza

The human Cranio Facial Development Protein 1 (Cfdp1) gene maps to chromosome 16q22.2-q22.3 and
encodes the CFDP1 protein, which belongs to the evolutionarily conserved Bucentaur (BCNT) family.
Craniofacial malformations are developmental disorders of particular biomedical and clinical interest,
because they represent the main cause of infant mortality and disability in humans, thus it is important
to understand the cellular functions and mechanism of action of the CFDP1 protein. We have carried
out a multi-disciplinary study, combining cell biology, reverse genetics and biochemistry, to provide the
first in vivo characterization of CFDP1 protein functions in human cells. We show that CFDP1 binds to
chromatin and interacts with subunits of the SRCAP chromatin remodeling complex. An RNAi-mediated
depletion of CFDP1 in HeLa cells affects chromosome organization, SMC2 condensin recruitment and
cell cycle progression. Our findings provide new insight into the chromatin functions and mechanisms of
the CFDP1 protein and contribute to our understanding of the link between epigenetic regulation and
the onset of human complex developmental disorders.