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Gene Review

DSG1  -  desmoglein 1

Homo sapiens

Synonyms: CDHF4, Cadherin family member 4, DG1, DGI, DSG, ...
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Disease relevance of DSG1


Psychiatry related information on DSG1


High impact information on DSG1

  • The prevalence of antibodies against desmoglein 1 in endemic pemphigus foliaceus in Brazil. Cooperative Group on Fogo Selvagem Research [7].
  • CONCLUSIONS: The prevalence of antibodies against desmoglein 1 is high among normal subjects living in an area among where fogo selvagem is endemic, and the onset of the disease is preceded by a sustained antibody response [7].
  • 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 [8].
  • The deduced amino acid sequence of PVA was unique but showed significant homology with members of the cadherin family of Ca(2+)-dependent cell adhesion molecules, most markedly to desmoglein I [9].
  • Recent evidence on the distribution of desmosomal glycoprotein isoforms that shows their combined expression in individual desmosomes has strengthened the belief that the latter are involved in epithelial differentiation and morphogenesis [10].

Chemical compound and disease context of DSG1


Biological context of DSG1


Anatomical context of DSG1


Associations of DSG1 with chemical compounds

  • Desmoglein is a transmembrane glycoprotein of the cadherin superfamily present in the desmosomal junction in vertebrate epithelial cells [20].
  • To further understand the structure and assembly of the plakoglobin-cadherin complexes we analyzed amino acid residues involved in plakoglobin-Dsg interactions using alanine scanning mutagenesis [21].
  • Of 42 serum samples (25 patients administered carbamazepine, eight patients administered valproic acid and nine healthy volunteers) tested by ELISA, three patients administered carbamazepine showed positive reactivity against both Dsg1 and Dsg3 [22].
  • Results show distinct differences in the sedimentation profiles of these proteins, suggesting that they are not associated in the Triton X-100-soluble pool of proteins; this was also supported by the observation that DGI and DPI/II could not be coimmunoprecipitated in a complex with each other from sucrose gradient fractions [23].
  • Interactions between the Triton X-100-soluble pools of DPI/II and DGI were analyzed by sedimentation of extracted proteins in sucrose gradients [23].

Physical interactions of DSG1


Other interactions of DSG1

  • Direct Ca2+-dependent heterophilic interaction between desmosomal cadherins, desmoglein and desmocollin, contributes to cell-cell adhesion [28].
  • Two Dsg are targeted by pathogenic autoantibodies produced in the course of autoimmune bullous skin diseases, Dsg1 in pemphigus foliaceus (PF), and Dsg3 and Dsg1 in pemphigus vulgaris [11].
  • Nevertheless, both plakoglobin and PKP1 are required for the formation of clustered structures containing DP and the Dsg1 tail that ultrastructurally appear similar to desmosomal plaques found in the epidermis [29].
  • Here, we analyzed the capacity of these enzymes to cleave DSG1, DSC1, and epidermal or recombinant forms of CDSN, at an acidic pH close to that of the stratum corneum [30].
  • We describe the assembly of a cosmid and PAC contig of approximately 700 kb on human chromosome 18q12 spanning the DSC and DSG genes coding for the desmocollins and desmogleins [3].

Analytical, diagnostic and therapeutic context of DSG1


  1. Characterization of the regulatory regions in the human desmoglein genes encoding the pemphigus foliaceous and pemphigus vulgaris antigens. Adams, M.J., Reichel, M.B., King, I.A., Marsden, M.D., Greenwood, M.D., Thirlwell, H., Arnemann, J., Buxton, R.S., Ali, R.R. Biochem. J. (1998) [Pubmed]
  2. Epistasis between DSG1 and HLA class II genes in pemphigus foliaceus. Martel, P., Gilbert, D., Busson, M., Loiseau, P., Lepage, V., Drouot, L., Delaporte, E., Prost, C., Joly, P., Charron, D., Tron, F. Genes Immun. (2002) [Pubmed]
  3. Clustered cadherin genes: a sequence-ready contig for the desmosomal cadherin locus on human chromosome 18. Hunt, D.M., Sahota, V.K., Taylor, K., Simrak, D., Hornigold, N., Arnemann, J., Wolfe, J., Buxton, R.S. Genomics (1999) [Pubmed]
  4. Desmoglein, the target molecule in autoimmunity and infection. Amagai, M. Nihon Rinsh?? Men'eki Gakkai kaishi = Japanese journal of clinical immunology. (2006) [Pubmed]
  5. Demonstration of ganglioside GD3 in human reactive astrocytes. Kawai, K., Watarai, S., Takahashi, H., Ishizu, H., Fukai, K., Tanabe, Y., Yokota, O., Kuroda, S. Psychiatry and clinical neurosciences. (1999) [Pubmed]
  6. Insights from modeling the tertiary structure of human BACE2. Chou, K.C. J. Proteome Res. (2004) [Pubmed]
  7. The prevalence of antibodies against desmoglein 1 in endemic pemphigus foliaceus in Brazil. Cooperative Group on Fogo Selvagem Research. Warren, S.J., Lin, M.S., Giudice, G.J., Hoffmann, R.G., Hans-Filho, G., Aoki, V., Rivitti, E.A., Santos, V., Diaz, L.A. N. Engl. J. Med. (2000) [Pubmed]
  8. 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]
  9. Autoantibodies against a novel epithelial cadherin in pemphigus vulgaris, a disease of cell adhesion. Amagai, M., Klaus-Kovtun, V., Stanley, J.R. Cell (1991) [Pubmed]
  10. Desmosomes: differentiation, development, dynamics and disease. Garrod, D., Chidgey, M., North, A. Curr. Opin. Cell Biol. (1996) [Pubmed]
  11. A Truncated Alternative Spliced Isoform of Human Desmoglein 1 Contains a Specific T Cell Epitope Binding to the Pemphigus Foliaceus-Associated HLA Class II DRbeta1*0102 Molecule. Mouquet, H., Farci, S., Joly, P., Maill??re, B., Leblond, J., Drouot, L., Leprince, J., Tonon, M.C., Loiseau, P., Charron, D., Tron, F., Gilbert, D. J. Immunol. (2006) [Pubmed]
  12. Autoantibody production from a thymoma and a follicular dendritic cell sarcoma associated with paraneoplastic pemphigus. Wang, J., Bu, D.F., Li, T., Zheng, R., Zhang, B.X., Chen, X.X., Zhu, X.J. Br. J. Dermatol. (2005) [Pubmed]
  13. D-penicillamine-induced pemphigus foliaceus with autoantibodies to desmoglein-1. Brenner, S., Ruocco, V. J. Am. Acad. Dermatol. (1998) [Pubmed]
  14. Primary dysmenorrhea treatment with a desogestrel-containing low-dose oral contraceptive. Hendrix, S.L., Alexander, N.J. Contraception. (2002) [Pubmed]
  15. Keratinocyte acetylcholine receptors regulate cell adhesion. Nguyen, V.T., Arredondo, J., Chernyavsky, A.I., Kitajima, Y., Grando, S.A. Life Sci. (2003) [Pubmed]
  16. N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Rickman, L., Simrak, D., Stevens, H.P., Hunt, D.M., King, I.A., Bryant, S.P., Eady, R.A., Leigh, I.M., Arnemann, J., Magee, A.I., Kelsell, D.P., Buxton, R.S. Hum. Mol. Genet. (1999) [Pubmed]
  17. The human genes for desmogleins (DSG1 and DSG3) are located in a small region on chromosome 18q12. Wang, Y., Amagai, M., Minoshima, S., Sakai, K., Green, K.J., Nishikawa, T., Shimizu, N. Genomics (1994) [Pubmed]
  18. Classification, clinical manifestations, and immunopathological mechanisms of the epithelial variant of paraneoplastic autoimmune multiorgan syndrome: a reappraisal of paraneoplastic pemphigus. Nguyen, V.T., Ndoye, A., Bassler, K.D., Shultz, L.D., Shields, M.C., Ruben, B.S., Webber, R.J., Pittelkow, M.R., Lynch, P.J., Grando, S.A. Archives of dermatology. (2001) [Pubmed]
  19. Identification of the ubiquitous human desmoglein, Dsg2, and the expression catalogue of the desmoglein subfamily of desmosomal cadherins. Schäfer, S., Koch, P.J., Franke, W.W. Exp. Cell Res. (1994) [Pubmed]
  20. The human gene (DSG2) coding for HDGC, a second member of the desmoglein subfamily of the desmosomal cadherins, is, like DSG1 coding for desmoglein DGI, assigned to chromosome 18. Arnemann, J., Spurr, N.K., Magee, A.I., Buxton, R.S. Genomics (1992) [Pubmed]
  21. Molecular organization of the desmoglein-plakoglobin complex. Chitaev, N.A., Averbakh, A.Z., Troyanovsky, R.B., Troyanovsky, S.M. J. Cell. Sci. (1998) [Pubmed]
  22. Increased antibody levels to desmogleins 1 and 3 after administration of carbamazepine. Yoshimura, T., Seishima, M., Nakashima, K., Yasuhara, Y., Adachi, S., Kawaguchi, M., Minoura, N., Nakao, T., Kobayashi, J., Yamazaki, F. Clin. Exp. Dermatol. (2001) [Pubmed]
  23. Regulation of desmosome assembly in MDCK epithelial cells: coordination of membrane core and cytoplasmic plaque domain assembly at the plasma membrane. Pasdar, M., Krzeminski, K.A., Nelson, W.J. J. Cell Biol. (1991) [Pubmed]
  24. A YAC contig joining the desmocollin and desmoglein loci on human chromosome 18 and ordering of the desmocollin genes. Cowley, C.M., Simrak, D., Marsden, M.D., King, I.A., Arnemann, J., Buxton, R.S. Genomics (1997) [Pubmed]
  25. 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]
  26. Cadherin binding sites of plakoglobin: localization, specificity and role in targeting to adhering junctions. Troyanovsky, R.B., Chitaev, N.A., Troyanovsky, S.M. J. Cell. Sci. (1996) [Pubmed]
  27. Coexistence of pemphigus foliaceus and bullous pemphigoid. Demonstration of autoantibodies that bind to both the pemphigus foliaceus antigen complex and the bullous pemphigoid antigen. Korman, N.J., Stanley, J.R., Woodley, D.T. Archives of dermatology. (1991) [Pubmed]
  28. Direct Ca2+-dependent heterophilic interaction between desmosomal cadherins, desmoglein and desmocollin, contributes to cell-cell adhesion. Chitaev, N.A., Troyanovsky, S.M. J. Cell Biol. (1997) [Pubmed]
  29. Plakophilin 1 interferes with plakoglobin binding to desmoplakin, yet together with plakoglobin promotes clustering of desmosomal plaque complexes at cell-cell borders. Bornslaeger, E.A., Godsel, L.M., Corcoran, C.M., Park, J.K., Hatzfeld, M., Kowalczyk, A.P., Green, K.J. J. Cell. Sci. (2001) [Pubmed]
  30. Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7. Caubet, C., Jonca, N., Brattsand, M., Guerrin, M., Bernard, D., Schmidt, R., Egelrud, T., Simon, M., Serre, G. J. Invest. Dermatol. (2004) [Pubmed]
  31. Lack of mucosal involvement in pemphigus foliaceus may be due to low expression of desmoglein 1. Shirakata, Y., Amagai, M., Hanakawa, Y., Nishikawa, T., Hashimoto, K. J. Invest. Dermatol. (1998) [Pubmed]
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