The dermal-epidermal junction.

Recent insights into the structure and function of the dermal-epidermal junction have resulted from two converging lines of experimental evidence, namely, the study of inherited blistering disorders of the skin, in which mutations in genes encoding proteins of this region have been discovered, and the targeted ablation of the same genes in knockout mouse models. In addition to these studies, elegant analyses of the cell biology of the hemidesmosome/anchoring filament complex have revealed not only functionally important interactions between structural protein components, but also the role of certain of these proteins in mediating cell adhesion, migration, and signal transduction of messages from the extracellular matrix into the keratinocyte. Our current understanding of the dermal-epidermal junction forms a new model encapsulating the nature both of the hemidesmosomal attachment structures and of the interhemidesmosomal attachments that are mediated by differential cell type specific expression of proteins of the cutaneous adhesion zone.

[1]  C. Stratowa,et al.  Cloning and sequencing of rat plectin indicates a 466-kD polypeptide chain with a three-domain structure based on a central alpha-helical coiled coil , 1991, The Journal of cell biology.

[2]  L. Diaz,et al.  Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180. , 1992, The Journal of investigative dermatology.

[3]  J. Uitto,et al.  Plectin and human genetic disorders of the skin and muscle , 1996, Experimental dermatology.

[4]  A. Sonnenberg,et al.  Epithelial detachment due to absence of hemidesmosomes in integrin β4 null mice , 1996, Nature Genetics.

[5]  J. Uitto,et al.  Dystrophic forms of epidermolysis bullosa. , 1993, Seminars in dermatology.

[6]  R. Jaenisch,et al.  α3β1 Integrin Is Required for Normal Development of the Epidermal Basement Membrane , 1997, The Journal of cell biology.

[7]  D. Roop,et al.  Isolation of complementary DNA for bullous pemphigoid antigen by use of patients' autoantibodies. , 1988, The Journal of clinical investigation.

[8]  J. Rossant,et al.  The genomic structure of an insertional mutation in the dystonia musculorum locus. , 1994, Genomics.

[9]  E. Fuchs,et al.  An Essential Cytoskeletal Linker Protein Connecting Actin Microfilaments to Intermediate Filaments , 1996, Cell.

[10]  D. Woodley,et al.  Evidence that anti-basement membrane zone antibodies in bullous eruption of systemic lupus erythematosus recognize epidermolysis bullosa acquisita autoantigen. , 1985, The Journal of investigative dermatology.

[11]  I. Naito,et al.  Identification of a 450-kDa human epidermal autoantigen as a new member of the plectin family. , 1996, The Journal of investigative dermatology.

[12]  W. McLean,et al.  Human keratin diseases: , 1996, Experimental dermatology.

[13]  K. Owaribe,et al.  Identification of a new hemidesmosomal protein, HD1: a major, high molecular mass component of isolated hemidesmosomes , 1992, The Journal of cell biology.

[14]  E. Fuchs,et al.  Gene targeting of BPAG1: Abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration , 1995, Cell.

[15]  E. Lane,et al.  Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. , 1996, Genes & development.

[16]  J. Uitto,et al.  Junctional Forms of Epidermolysis Bullosa , 1998 .

[17]  W. Carter,et al.  Distinct functions for integrins alpha 3 beta 1 in focal adhesions and alpha 6 beta 4/bullous pemphigoid antigen in a new stable anchoring contact (SAC) of keratinocytes: relation to hemidesmosomes , 1990, The Journal of cell biology.

[18]  J. R. McMillan,et al.  Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa , 1995, Nature Genetics.

[19]  E. Fuchs.  Keith R. Porter Lecture, 1996. Of mice and men: genetic disorders of the cytoskeleton. , 1997, Molecular biology of the cell.

[20]  R. Burgeson.  Type VII collagen, anchoring fibrils, and epidermolysis bullosa. , 1993, The Journal of investigative dermatology.

[21]  M. Stepp,et al.  Alpha 6 beta 4 integrin heterodimer is a component of hemidesmosomes. , 1990, Proceedings of the National Academy of Sciences of the United States of America.

[22]  K. Will,et al.  Alternative splicing in the first nucleotide binding fold of CFTR. , 1993, Human molecular genetics.

[23]  B. Zelickson,et al.  Bullous pemphigoid and herpes gestationis autoantibodies recognize a common non-collagenous site on the BP180 ectodomain. , 1993, Journal of immunology.

[24]  J. Uitto,et al.  Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia , 1995, Nature Genetics.

[25]  J. Sanes,et al.  The Laminin α Chains: Expression, Developmental Transitions, and Chromosomal Locations of α1-5, Identification of Heterotrimeric Laminins 8–11, and Cloning of a Novel α3 Isoform , 1997, The Journal of cell biology.

[26]  J. Uitto,et al.  Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. , 1996, Human molecular genetics.

[27]  J. Schlessinger,et al.  Signal transduction by the α6β4 integrin: distinct β4 subunit sites mediate recruitment of Shc/Grb2 and association with the cytoskeleton of hemidesmosomes , 1995 .

[28]  R. Burgeson,et al.  Human amnion contains a novel laminin variant, laminin 7, which like laminin 6, covalently associates with laminin 5 to promote stable epithelial-stromal attachment , 1996, The Journal of cell biology.

[29]  W. Gammon.  Epidermolysis bullosa acquisita: a disease of autoimmunity to type VII collagen. , 1991, Journal of autoimmunity.

[30]  G. Yehia,et al.  Absence of integrin α6 leads to epidermolysis bullosa and neonatal death in mice , 1996, Nature Genetics.

[31]  J. Uitto,et al.  Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. , 1995, The Journal of investigative dermatology.

[32]  J. Terwilliger,et al.  Two stage genome–wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12 , 1996, Nature Genetics.

[33]  J. Uitto,et al.  Molecular complexity of the cutaneous basement membrane zone , 1996, Experimental dermatology.

[34]  R. Timpl.  Macromolecular organization of basement membranes. , 1996, Current opinion in cell biology.

[35]  J. McGrath,et al.  Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression. , 1993, The Journal of investigative dermatology.

[36]  A. Sonnenberg,et al.  Hemidesmosomes: roles in adhesion, signaling and human diseases. , 1996, Current opinion in cell biology.

[37]  J. R. McMillan,et al.  Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. , 1996, The American journal of pathology.

[38]  J. Uitto,et al.  Human bullous pemphigoid antigen (BPAG1). Amino acid sequences deduced from cloned cDNAs predict biologically important peptide segments and protein domains. , 1991, The Journal of biological chemistry.

[39]  R. Burgeson,et al.  Anti-basement membrane autoantibodies in patients with anti-epiligrin cicatricial pemphigoid bind the alpha subunit of laminin 5. , 1995, The Journal of investigative dermatology.

[40]  Richard O. Hynes,et al.  Integrins: Versatility, modulation, and signaling in cell adhesion , 1992, Cell.

[41]  R. Burgeson,et al.  Anchoring complex components laminin-5 and type VII collagen in intestine: association with migrating and differentiating enterocytes. , 1996, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

[42]  R. Burgeson,et al.  Laminin 5 Binds the NC-1 Domain of Type VII Collagen , 1997, The Journal of cell biology.

[43]  J. Uitto,et al.  Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia. , 1997, Laboratory investigation; a journal of technical methods and pathology.

[44]  J. Uitto,et al.  Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. , 1997, Human molecular genetics.

[45]  B. Hogan,et al.  Failure of ventral body wall closure in mouse embryos lacking a procollagen C-proteinase encoded by Bmp1, a mammalian gene related to Drosophila tolloid. , 1996, Development.

[46]  R. Burgeson,et al.  Kalinin: an epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments , 1991, The Journal of cell biology.