Human hair abnormalities resulting from inherited desmosome gene mutations.
Over the last eight years, several naturally occurring human gene mutations in structural components of desmosomes, cell-cell adhesion junctions found in skin, heart and meninges, have been reported. These comprise dominant or recessive mutations in plakophilin 1, plakophilin 2, desmoplakin, desmoglein 1, desmoglein 4, plakoglobin and corneodesmosin. Of note, as well as compromising tissue integrity, many of the resulting phenotypes have been associated with visible changes in hair. This article describes the particular hair abnormalities resulting from these desmosome gene mutations. Collectively, the data demonstrate the surprising effects inherited desmosome gene/protein pathology may have on hair growth and development. Further analysis of these and other desmosome genes is likely to resolve more hair disease mysteries and provides several further intriguing new discoveries in years to come.
McGrath
John A
JA
Genetic Skin Disease Group, St John's Institute of Dermatology, The Guy's, King's College and St Thomas' Hospitals' Medical School, London, UK.
Wessagowit
Vesarat
V
D002448:Cell Adhesion; D002462:Cell Membrane / Q000378:metabolism; D003598:Cytoskeletal Proteins; D051183:Desmoglein 1; D051182:Desmogleins; D051180:Desmoplakins; D003896:Desmosomes / Q000378:metabolism* / Q000648:ultrastructure; D005799:Genes, Dominant; D005808:Genes, Recessive; D005838:Genotype; D006197:Hair / Q000002:abnormalities* / Q000648:ultrastructure; D006201:Hair Diseases / Q000235:genetics*; D006801:Humans; D007039:Hypotrichosis; D007382:Intermediate Filaments; D008954:Models, Biological; D009154:Mutation; D010641:Phenotype; D051191:Plakophilins; D011506:Proteins / Q000235:genetics*; D012867:Skin / Q000378:metabolism*; D012871:Skin Diseases / Q000235:genetics; D013577:Syndrome; D051185:gamma Catenin
D003598:Cytoskeletal Proteins; C495297:DSG1 protein, human; C495294:DSP protein, human; D051183:Desmoglein 1; D051182:Desmogleins; D051180:Desmoplakins; C495335:PKP1 protein, human; C495337:PKP2 protein, human; D051191:Plakophilins; D011506:Proteins; D051185:gamma Catenin