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