Transcriptional impact of mutated POLR3A in a leukodystrophy cellular model - NSCI 396 Undergraduate Research Project Application Form

Supervisor's Name: Bernard Brais

Supervisor's Email: Bernard.Brais [at] McGill.ca

Supervisor's Phone: 514-398-3334

Supervisor's Website:

Supervisor's department: Neurology and Neurosurgery

Course number: NSCI 396 (Neuroscience)

Term: Winter 2013-2014

Project start date: Monday, January 6, 2014

Project end date: Friday, April 11, 2014

Project title: Transcriptional impact of mutated POLR3A in a leukodystrophy cellular model

Project description (50-100 words suggested): RNA Polymerase III (Pol III) transcribes tRNAs and many non-coding RNAs. Mutations in POLR3A cause Pol III-related hypomyelinating leukodystrophies. We hypothesize that such mutations alter Pol III’s transcription efficiency, leading to a decrease in the expression of key transcripts for normal white matter biology. The student will perform RNA-immunoprecipitation followed by RNA quantification using quantitative RT-PCR, Northern Blots and next-generation sequencing in cellular models of Pol III-related leukodystrophies. This will allow comparison of transcription levels of Pol III transcripts between wild-type and mutated cell lines. Identification of deregulated transcripts will provide insights into the pathophysiological mechanisms of the disease.

Prerequisite: 1 term completed at McGill + CGPA of 3.0 or higher; or permission of instructor.

Grading scheme (The final report must be worth at least 50% of final grade): Final report: 50%; Laboratory work: 25%; Presentation: 25%.

Project status: This project is taken. The professor has no more '396' projects this term.

Ethics, safety, and training: Supervisors are responsible for the ethics and safety compliance of undergraduate students. This project involves: Radioactive materials; Handling chemicals.