The human Cranio Facial Development Protein 1 (Cfdp1) gene maps to chromosome 16q22.2-q22.3 andencodes 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 importantto understand the cellular functions and mechanism of action of the CFDP1 protein. We have carriedout a multi-disciplinary study, combining cell biology, reverse genetics and biochemistry, to provide thefirst in vivo characterization of CFDP1 protein functions in human cells. We show that CFDP1 binds tochromatin and interacts with subunits of the SRCAP chromatin remodeling complex. An RNAi-mediateddepletion of CFDP1 in HeLa cells affects chromosome organization, SMC2 condensin recruitment andcell cycle progression. Our findings provide new insight into the chromatin functions and mechanisms ofthe CFDP1 protein and contribute to our understanding of the link between epigenetic regulation andthe onset of human complex developmental disorders.
The human Cranio Facial Development Protein 1 (Cfdp1) gene encodes a protein required for the maintenance of higher-order chromatin organization
MESSINA, Giovanni;
2017-01-01
Abstract
The human Cranio Facial Development Protein 1 (Cfdp1) gene maps to chromosome 16q22.2-q22.3 andencodes 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 importantto understand the cellular functions and mechanism of action of the CFDP1 protein. We have carriedout a multi-disciplinary study, combining cell biology, reverse genetics and biochemistry, to provide thefirst in vivo characterization of CFDP1 protein functions in human cells. We show that CFDP1 binds tochromatin and interacts with subunits of the SRCAP chromatin remodeling complex. An RNAi-mediateddepletion of CFDP1 in HeLa cells affects chromosome organization, SMC2 condensin recruitment andcell cycle progression. Our findings provide new insight into the chromatin functions and mechanisms ofthe CFDP1 protein and contribute to our understanding of the link between epigenetic regulation andthe onset of human complex developmental disorders.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
