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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review


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Disease relevance of Desmosomes


High impact information on Desmosomes

  • Perp localizes specifically to desmosomes, adhesion junctions important for tissue integrity, and numerous structural defects in desmosomes are observed in Perp-deficient skin, suggesting a role for Perp in promoting the stable assembly of desmosomal adhesive complexes [6].
  • LEKTI deficiency causes abnormal desmosome cleavage in the upper granular layer through degradation of desmoglein 1 due to stratum corneum tryptic enzyme and stratum corneum chymotryptic enzyme-like hyperactivity [7].
  • In 32 of 120 unrelated individuals with ARVC, we identified heterozygous mutations in PKP2, which encodes plakophilin-2, an essential armadillo-repeat protein of the cardiac desmosome [8].
  • By contrast, chimeras containing a Dsg tail, which accumulated in the plasma membrane, showed a dominant-negative effect: they not only were unable to form gap junction structures and plaques but also led to the disappearance of all endogenous desmosomes and the detachment of IFs from the plasma membrane [9].
  • Cadherin family members are the transmembrane components of a number of cellular junctions, including adherens junctions, desmosomes, cardiac junctions, endothelial junctions, and synaptic junctions [10].

Chemical compound and disease context of Desmosomes


Biological context of Desmosomes


Anatomical context of Desmosomes


Associations of Desmosomes with chemical compounds

  • They included abnormal distribution of alpha 2 beta 1 integrin along the crypt-villus axis, increased immunohistochemical expression of desmoglein, and ultrastructural changes of desmosomes increased in length and number [23].
  • Localisation of the protein and glycoprotein components of bovine nasal epithelial desmosomes by immunoelectron microscopy [24].
  • Junctions were split between adjacent cells by treatment with EGTA and proteins associated with the plaques of zonulae adhaerentes and desmosomes were localized by immunological methods [25].
  • Conversely, when linked to a foreign protein, as few as 86 NH2-terminal DP residues are sufficient to target to desmosomes efficiently [26].
  • Periplakin, a novel component of cornified envelopes and desmosomes that belongs to the plakin family and forms complexes with envoplakin [27].

Gene context of Desmosomes

  • Our results suggest a model whereby at desmosome sites within dividing epidermal cells, DP and PG anchor to desmosomal cadherins and to each other, forming an ordered array of nontransmembrane proteins that then bind to keratin IFs [26].
  • In this report, we explore the biochemical nature of the connections between keratin filaments and desmosomes in epidermal keratinocytes [28].
  • Together, these results show that PKP3, whose epithelial and epidermal desmosomal expression pattern and protein interaction repertoire are broader than those of PKP1 and -2, is a unique multiprotein binding element in the basic architecture of a vast majority of epithelial desmosomes [29].
  • These data suggest that plakoglobin, which is the only known common component to both adherens junctions and desmosomes, must be linked to E-cadherin in the adherens junction before the cell can begin to assemble desmosomal components at regions of cell-cell contact [13].
  • Desmoplakin is a desmosomal component that plays a critical role in linking intermediate filament networks to the desmosomal plaque, and the amino-terminal domain of desmoplakin targets desmoplakin to the desmosome [30].

Analytical, diagnostic and therapeutic context of Desmosomes


  1. Characterization of a keratinocyte-specific extracellular epitope of desmoglein. Implications for desmoglein heterogeneity and function. Loomis, C.A., Kolega, J., Manabe, M., Sun, T.T. J. Biol. Chem. (1992) [Pubmed]
  2. Immunomorphologic and biochemical identification of the pemphigus foliaceous autoantigen within desmosomes. Rappersberger, K., Roos, N., Stanley, J.R. J. Invest. Dermatol. (1992) [Pubmed]
  3. Characterization of paraneoplastic pemphigus autoantigens by immunoblot analysis. Hashimoto, T., Amagai, M., Watanabe, K., Chorzelski, T.P., Bhogal, B.S., Black, M.M., Stevens, H.P., Boorsma, D.M., Korman, N.J., Gamou, S. J. Invest. Dermatol. (1995) [Pubmed]
  4. E-cadherin is a selective and strongly dominant prognostic factor in squamous cell carcinoma: a comparison of E-cadherin with desmosomal components. Bosch, F.X., Andl, C., Abel, U., Kartenbeck, J. Int. J. Cancer (2005) [Pubmed]
  5. The induction of tumour cell adhesiveness and intercellular junctions by a glycoprotein of rat ascites hepatoma cell surface. Ishimaru, Y., Kudo, K., Ishihara, H., Hayashi, H. Br. J. Cancer (1976) [Pubmed]
  6. Perp is a p63-regulated gene essential for epithelial integrity. Ihrie, R.A., Marques, M.R., Nguyen, B.T., Horner, J.S., Papazoglu, C., Bronson, R.T., Mills, A.A., Attardi, L.D. Cell (2005) [Pubmed]
  7. Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity. Descargues, P., Deraison, C., Bonnart, C., Kreft, M., Kishibe, M., Ishida-Yamamoto, A., Elias, P., Barrandon, Y., Zambruno, G., Sonnenberg, A., Hovnanian, A. Nat. Genet. (2005) [Pubmed]
  8. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Gerull, B., Heuser, A., Wichter, T., Paul, M., Basson, C.T., McDermott, D.A., Lerman, B.B., Markowitz, S.M., Ellinor, P.T., MacRae, C.A., Peters, S., Grossmann, K.S., Drenckhahn, J., Michely, B., Sasse-Klaassen, S., Birchmeier, W., Dietz, R., Breithardt, G., Schulze-Bahr, E., Thierfelder, L. Nat. Genet. (2004) [Pubmed]
  9. Contributions of cytoplasmic domains of desmosomal cadherins to desmosome assembly and intermediate filament anchorage. Troyanovsky, S.M., Eshkind, L.G., Troyanovsky, R.B., Leube, R.E., Franke, W.W. Cell (1993) [Pubmed]
  10. Cadherins as modulators of cellular phenotype. Wheelock, M.J., Johnson, K.R. Annu. Rev. Cell Dev. Biol. (2003) [Pubmed]
  11. Pemphigus vulgaris-IgG causes a rapid depletion of desmoglein 3 (Dsg3) from the Triton X-100 soluble pools, leading to the formation of Dsg3-depleted desmosomes in a human squamous carcinoma cell line, DJM-1 cells. Aoyama, Y., Kitajima, Y. J. Invest. Dermatol. (1999) [Pubmed]
  12. Necrotizing tracheobronchitis with progressive airflow obstruction associated with paraneoplastic pemphigus. Osmanski, J.P., Fraire, A.E., Schaefer, O.P. Chest (1997) [Pubmed]
  13. Cross-talk between adherens junctions and desmosomes depends on plakoglobin. Lewis, J.E., Wahl, J.K., Sass, K.M., Jensen, P.J., Johnson, K.R., Wheelock, M.J. J. Cell Biol. (1997) [Pubmed]
  14. Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. Gallicano, G.I., Kouklis, P., Bauer, C., Yin, M., Vasioukhin, V., Degenstein, L., Fuchs, E. J. Cell Biol. (1998) [Pubmed]
  15. Desmosomal glycoprotein DGI, a component of intercellular desmosome junctions, is related to the cadherin family of cell adhesion molecules. Wheeler, G.N., Parker, A.E., Thomas, C.L., Ataliotis, P., Poynter, D., Arnemann, J., Rutman, A.J., Pidsley, S.C., Watt, F.M., Rees, D.A. Proc. Natl. Acad. Sci. U.S.A. (1991) [Pubmed]
  16. Tyrosine phosphorylation of plakoglobin causes contrary effects on its association with desmosomes and adherens junction components and modulates beta-catenin-mediated transcription. Miravet, S., Piedra, J., Castaño, J., Raurell, I., Francí, C., Duñach, M., García de Herreros, A. Mol. Cell. Biol. (2003) [Pubmed]
  17. Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling. Chen, X., Bonne, S., Hatzfeld, M., van Roy, F., Green, K.J. J. Biol. Chem. (2002) [Pubmed]
  18. Human autoantibodies against desmoplakins in paraneoplastic pemphigus. Oursler, J.R., Labib, R.S., Ariss-Abdo, L., Burke, T., O'Keefe, E.J., Anhalt, G.J. J. Clin. Invest. (1992) [Pubmed]
  19. A protein antigenically related to nuclear lamin B mediates the association of intermediate filaments with desmosomes. Cartaud, A., Ludosky, M.A., Courvalin, J.C., Cartaud, J. J. Cell Biol. (1990) [Pubmed]
  20. Attachment of vimentin filaments to desmosomal plaques in human meningiomal cells and arachnoidal tissue. Kartenbeck, J., Schwechheimer, K., Moll, R., Franke, W.W. J. Cell Biol. (1984) [Pubmed]
  21. E-cadherin is essential for in vivo epidermal barrier function by regulating tight junctions. Tunggal, J.A., Helfrich, I., Schmitz, A., Schwarz, H., Günzel, D., Fromm, M., Kemler, R., Krieg, T., Niessen, C.M. EMBO J. (2005) [Pubmed]
  22. Organization of desmosomal plaque proteins in cells growing at low calcium concentrations. Duden, R., Franke, W.W. J. Cell Biol. (1988) [Pubmed]
  23. Distribution of cell adhesion molecules in infants with intestinal epithelial dysplasia (tufting enteropathy). Patey, N., Scoazec, J.Y., Cuenod-Jabri, B., Canioni, D., Kedinger, M., Goulet, O., Brousse, N. Gastroenterology (1997) [Pubmed]
  24. Localisation of the protein and glycoprotein components of bovine nasal epithelial desmosomes by immunoelectron microscopy. Miller, K., Mattey, D., Measures, H., Hopkins, C., Garrod, D. EMBO J. (1987) [Pubmed]
  25. Different modes of internalization of proteins associated with adhaerens junctions and desmosomes: experimental separation of lateral contacts induces endocytosis of desmosomal plaque material. Kartenbeck, J., Schmid, E., Franke, W.W., Geiger, B. EMBO J. (1982) [Pubmed]
  26. Defining the interactions between intermediate filaments and desmosomes. Smith, E.A., Fuchs, E. J. Cell Biol. (1998) [Pubmed]
  27. Periplakin, a novel component of cornified envelopes and desmosomes that belongs to the plakin family and forms complexes with envoplakin. Ruhrberg, C., Hajibagheri, M.A., Parry, D.A., Watt, F.M. J. Cell Biol. (1997) [Pubmed]
  28. Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins. Kouklis, P.D., Hutton, E., Fuchs, E. J. Cell Biol. (1994) [Pubmed]
  29. Defining desmosomal plakophilin-3 interactions. Bonné, S., Gilbert, B., Hatzfeld, M., Chen, X., Green, K.J., van Roy, F. J. Cell Biol. (2003) [Pubmed]
  30. The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes. Kowalczyk, A.P., Bornslaeger, E.A., Borgwardt, J.E., Palka, H.L., Dhaliwal, A.S., Corcoran, C.M., Denning, M.F., Green, K.J. J. Cell Biol. (1997) [Pubmed]
  31. The zinc-finger protein slug causes desmosome dissociation, an initial and necessary step for growth factor-induced epithelial-mesenchymal transition. Savagner, P., Yamada, K.M., Thiery, J.P. J. Cell Biol. (1997) [Pubmed]
  32. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Jonkman, M.F., Pasmooij, A.M., Pasmans, S.G., van den Berg, M.P., Ter Horst, H.J., Timmer, A., Pas, H.H. Am. J. Hum. Genet. (2005) [Pubmed]
  33. A cell surface desmosome-associated component: identification of tissue-specific cell adhesion molecule. Jones, J.C., Yokoo, K.M., Goldman, R.D. Proc. Natl. Acad. Sci. U.S.A. (1986) [Pubmed]
  34. Dissection of the bovine epidermal desmosome into cytoplasmic protein and membrane glycoprotein domains. Skerrow, C.J., Hunter, I., Skerrow, D. J. Cell. Sci. (1987) [Pubmed]
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