Project description
CHARGE syndrome is a rare genetic disorder that is characterized by a complex set of abnormalities that gave it its name: Coloboma of the eye, Heart problems, Atresia of the choanae, Retarded growth, Genital abnormalities and Ear abnormalities. In Dr. Pilon’s laboratory we identified different mutations of the Fam172a gene and identified them as being responsible for the CHARGE syndrome. The Pilon’s lab has generated a mouse model with a mutation of Fam172a that captured all the anomalies of this syndrome. Our previous work was based on the existence of a single isoform of Fam172a though; we recently discovered the presence of 3 different isoforms attributed to alternative splicing. The aim of this work is to characterize the regulatory mechanisms of the subcellular localization of the different isoforms by using an immunofluorescent labelling in transfected cells. To determine the pattern of spatiotemporal expression of Fam172a isoforms during the embryonic development of the mouse by Western Blot. Validate some Fam172a interaction partners, such as Argonaute2, using the BiFC technique. Our results showed that the short and the intermediate forms of Fam172a are predominantly localized in the nucleus, whereas, the long form is predominantly localized in the cytoplasm. The most expressed form during embryonic development is the intermediate form.
Research team
Name: Fatiha Azouz, B.Sc.
Supervisor: Nicolas Pilon (UQAM)
Laureate: Master fellowship 2018