title: Structural organization of cornified cell envelopes and alterations in inherited skin disorders.
abstract: The cornified cell envelope is a highly insoluble and extremely tough structure formed beneath the cell membrane during terminal differentiation of keratinocytes. Its main function is to provide human skin with a protective barrier against the environment. Sequential cross-linking of several integral components catalyzed by transglutaminases leads to a gradual increase in the thickness of the envelope and underscores its rigidity. Key structural players in this cross-linking process include involucrin, loricrin, SPRRs, elafin, cystatin A, S100 family proteins, and some desmosomal proteins. The recent identification of genetic skin diseases with mutations in the genes encoding some of these proteins, including transglutaminase 1 and loricrin, has disclosed that abnormal cornified cell envelope synthesis is significantly involved in the pathophysiology of certain inherited keratodermas and reflects perturbations in the complex, yet highly orderly process of cornified cell envelope formation in normal skin biology.
authors.affiliation: Department of Dermatology, Asahikawa Medical College, Nishikagura, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Ishida-Yamamoto
authors.forename: H
authors.initials: H
authors.lastname: Iizuka
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002462:Cell Membrane / Q000378:metabolism* / Q000473:pathology*; D055233:Cornified Envelope Proline-Rich Proteins; D015891:Cystatins / Q000378:metabolism; D000091344:Filaggrin Proteins; D006801:Humans; D007057:Ichthyosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D007381:Intermediate Filament Proteins / Q000378:metabolism; D015603:Keratinocytes / Q000378:metabolism / Q000473:pathology; D015776:Keratoderma, Palmoplantar, Diffuse / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism; D011498:Protein Precursors / Q000378:metabolism; D053491:Proteinase Inhibitory Proteins, Secretory; D011506:Proteins / Q000378:metabolism; D012867:Skin / Q000166:cytology / Q000378:metabolism; D012873:Skin Diseases, Genetic / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D011503:Transglutaminases / Q000378:metabolism
chemical_list: D055233:Cornified Envelope Proline-Rich Proteins; D015891:Cystatins; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins; D008565:Membrane Proteins; D011498:Protein Precursors; D053491:Proteinase Inhibitory Proteins, Secretory; D011506:Proteins; C064554:loricrin; C032253:involucrin; D011503:Transglutaminases