Thesis Topic Details

Topic ID:
867
Title:
Exploring the genotype/phenotype relationships in lamin A/C
Supervisor:
Merridee Wouters
Research Area:
Associated Staff
Assessor:
John Whitelock
Topic Details
Status:
Active
Type:
Research
Programs:
BINF
Group Suitable:
No
Industrial:
Pre-requisites:
An interest in proteins and protein structure. Ability to program in perl. Familarity with a Unix-based environment.
Description:
Mutations found in the LMNA gene that encodes the nuclear intermediate filament protein lamin A/C are associated with a variety of diseases including Emery-Dreifuss muscular dystrophy (EDMD), dilated cardiomyopathy (DCM), Dunnigan-type partial lipodystrophy, and Hutchinson-Gilford progeria. However, no simple relationship between the nature of these mutations and the tissue-specific phenotypes is immediately apparent. In this study, deletions and point mutants of the LMNA gene will be studied using molecular modelling and bioinformatics sequence analysis to explore the relationship between genotype and phenotype. Offered in conjunction with Associate Professor Diane Fatkin of the Victor Chang Cardiac Research Institute. A benchwork component is available if desired.
Comments:
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