Localization study of CHD7 protein expressed in HeLa and HEK293 cells

Abstract

CHARGE syndrome is a rare genetic disease characterized by numerous congenital abnormalities caused by de novo alterations of the CHD7 gene. It encodes a chromo domain protein, involved in the ATP-dependent remodelling of chromatin. It has been described that CHD7 protein plays a role as a positive regulator of the nucleolar expression of the 45S ribosomal RNA precursor. The aim of this research was to study where the CHD7 protein is localized. Knowledge of the subcellular localization of the CHD7 protein is essential for understanding its physiological function. This study was conducted by transfection of two plasmids encoding CHD7-HA or FLAG-CHD7 into HeLa (human cervix carcinoma) and HEK293 (human embryonic kidney) cells. Protein expression and localization of the CHD7 protein was demonstrated by western blot and immunofluorescence. CHD7 protein was expressed in both cell models, and localization of the protein was found in the nucleoplasm, but not in the nucleolus.