Ian Jackson - F1000 Section Head (since 28 November 2005)
MRC Human Genetics Unit, Western General Hospital, Edinburgh, Scotland, UK
BIOGRAPHY
PROFESSOR IAN JACKSONhttp://www.hgu.mrc.ac.uk/people/i.jackson.html
Medical and Developmental Genetics
Head of Medical and Developmental Genetics (Joint with Veronica van Heyningen)
Research Areas:
Molecular Genetics and Development of Melanocytes
Melanocytes, the cells which produce melanin pigment in skin and hair, are an excellent system for understanding fundamental principles of developmental and cell biology. These cells arise in the neural crest and begin to migrate as melanoblasts through the developing dermis. They subsequently cross to the epidermis and ultimately become localised on the dermal-epidermal junction in the skin or within hair follicles. Once at their final site they begin to synthesis melanin and transfer it as granules to neighbouring keratinocytes. Mouse coat colour genetics has been studied for over 100 years, and provides a rich source of mutations that affect many aspects of melanocyte development and function. The genes underlying many of these mutations have now been identified. Those mutations that affect early development are often in genes that encode cell surface receptors, their ligands, or transcription factors. Mutations that affect later function of melanocytes are found in a range of genes, including those for receptors and ligands, but also encoding enzymes, structural proteins and proteins involved in organelle biosynthesis.
Genetic Models for Human Disease
Genome sequencing has revealed that the entire gene complement of the human genome appears to be surprisingly small. Nevertheless, there are still more than 20,000 genes, the vast majority of which do not have a function ascribed to them. The mouse genome has virtually the same gene content as the human genome, and these are found in the same order as in humans over quite large distances. The mouse genome is an excellent model for the human genome, and mouse genetics offers an opportunity to elucidate gene function by studying mutations in those genes. In addition these mutant animals are models for human diseases and help dissect the disease processes. We use chemical mutagenesis to produce random mutations and analyse the mice to identify mutant phenotype and subsequently find the mutated gene. We collaborate with MRC Mammalian Genetics Unit to discover genes involved in eye development and function. We also have screened for mutations resulting in embryonic defects.
