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Combined genetic and cellular analysis of melanisation to study variation in human pigmentation (2007–2009)

Abstract:
Characterisation of the differences in human pigmentation will be conducted using a combined genetic and cellular analysis of the process of melanin biogenesis. We have the ability to culture the pigmenting cells of the human epidermis and hair follicles called melanocytes from individuals of defined genotype. This will allow us to correlate mutations in melanosomal proteins with functional defects within the cells in culture using live cell imaging, electron microscopy and biochemical analysis. This will provide a molecular basis to explain the pigmentary characteristics of individuals allowing prediction and diagnosis of their photosensitivity with important implications for skin cancer risk.
Grant type:
ARC Discovery Projects
Researchers:

  • Associate Professor Rick Sturm

    Principal Research Fellow
    Frazer Institute
    Faculty of Medicine
    Principal Research Fellow
    Frazer Institute
    Faculty of Medicine
    Affiliate Associate Professor
    School of Chemistry and Molecular Biosciences
    Faculty of Science

  • Professor Jennifer Stow

    NHMRC Leadership Fellow
    Institute for Molecular Bioscience
    NHMRC Leadership Fellow
    Institute for Molecular Bioscience
    Affiliate of ARC COE in Quantum Bio
    ARC Centre of Excellence in Quantum Biotechnology
    Faculty of Science
Funded by:
Australian Research Council