Epithelial Genetics Group

The Epithelial Genetics Group is primarily interested in the following molecules, involved in human inherited disorders of the skin and other epithelial systems.

Further information about these molecules can be found by clicking on the appropriate links.

Keratins - a family of 54 intermediate filament proteins expressed in epithelial cells to provide them with physical strength.

Omary MB, Coulombe PA and McLean WHI (2004) “Intermediate filament proteins and their associated diseases.” New Eng J Med, 351:2087-2100.

Filaggrin - the main protein of keratohyalin granules in the outer epidermis and an important player in skin barrier formation.

Smith FJD et al., (2006) “Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.” Nature Genet, 38:337-342.

Palmer CNA et al., (2006) “Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.” Nature Genet [Epub ahead of print, Mar 19, 2006].

Transglutaminase-5 - an enzyme involved in the covalent cross-linking of proteins in skin barrier formation.

Cassidy AJ et al., (2005) “Homozygous missense mutations in TGM5 abolish transglutaminase 5 activity and cause acral peeling skin syndrome.” Am J Hum Genet, 77:909-917.

Laminin alpha-3 - one of the protein subunits making up the epidermal adhesion protein, laminin-5.

McLean WHI et al., (2003) “An unusual N-terminal deletion of the laminin ?3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.” Hum Molec Genet, 12:2395-2409.