Functional validation of the role of PMPCA in recessive spastic ataxia - HGEN 396 Undergraduate Research Project Application Form

Supervisor's Name: Benard Brais

Supervisor's Email: bernard.brais [at] mcgill.ca

Supervisor's Phone: (514) 398-8551

Supervisor's Website:

Supervisor's department: Human Genetics

Course number: HGEN 396 (Human Genetics)

Term: Fall 2014-2015

Project start date: September 8, 2014

Project end date: December 4, 2014

Project title: Functional validation of the role of PMPCA in recessive spastic ataxia

Project description (50-100 words suggested): Inherited ataxias are most often associated with progressive cerebellar degeneration leading to impaired balance, gait and speech. Exome sequencing in a family affected with an unresolved form of recessive spastic ataxia uncovered a missense variant in PMPCA, encoding the mitochondrial processing peptidase alpha. Our aim is to functionally confirm the pathogenicity of this variant. We will grow lymphoblast lines from affected and unaffected individuals. We will assess the expression and stability of PMPCA and some of its target proteins by Western Blots. Transfection of the mutated PMPCA cDNA will be used to establish whether the mutated protein is poorly localized.

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 grade shall be based on an evaluation of laboratory (or equivalent) performance (40%), a final written report (50%), and an oral presentation (10%) by the supervisor. Details of the evaluation scheme will be provided by HGEN to supervisors and applicants.

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

How students can apply / Next steps: For HGEN: After all of the parts of this application forms are completed and the hard copy is signed by the professor and the student, bring the application form and a copy of your unofficial transcript to the Department of Human Genetics (to the attention of Dr. Patricia N. Tonin, Stewart Biology Building N5.13) during office hours.

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