title: Genetic bases of epidermolysis bullosa simplex and epidermolytic hyperkeratosis.
abstract: Keratins are the major structural proteins of the epidermis. Analyzing keratin gene sequences, appreciating the switch in keratin gene expression that takes place as epidermal cells commit to terminally differentiate, and elucidating how keratins assemble into 10-nm filaments have provided the foundation that has led to the discoveries of the genetic bases of two major classes of human skin diseases. In this report, we review the cell biology and human genetics of these diseases, epidermolysis bullosa simplex and epidermolytic hyperkeratosis. Both of these diseases are epidermal disorders of keratin, typified by cell fragility as a consequence of defects in the mechanical strength of basal epidermolysis bullosa simplex or suprabasal epidermolytic hyperkeratosis cells.
authors.affiliation: Department of Molecular Genetics and Cell Biology, Howard Hughes Medical Institute, University of Chicago, Illinois 60637.
authors.forename: E
authors.initials: E
authors.lastname: Fuchs
authors.forename: P
authors.initials: P
authors.lastname: Coulombe
authors.forename: J
authors.initials: J
authors.lastname: Cheng
authors.forename: Y M
authors.initials: YM
authors.lastname: Chan
authors.forename: E
authors.initials: E
authors.lastname: Hutton
authors.forename: A
authors.initials: A
authors.lastname: Syder
authors.forename: L
authors.initials: L
authors.lastname: Degenstein
authors.forename: Q C
authors.initials: QC
authors.lastname: Yu
authors.forename: A
authors.initials: A
authors.lastname: Letai
authors.forename: R
authors.initials: R
authors.lastname: Vassar
mesh_terms: D002454:Cell Differentiation; D000078404:Epidermal Cells; D004817:Epidermis / Q000378:metabolism / Q000648:ultrastructure; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics*; D007382:Intermediate Filaments / Q000378:metabolism / Q000648:ultrastructure; D007633:Keratins / Q000378:metabolism / Q000648:ultrastructure
chemical_list: D007633:Keratins