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Gene Review

DSC1  -  desmocollin 1

Homo sapiens

Synonyms: CDHF1, Cadherin family member 1, DG2/DG3, Desmocollin-1, Desmosomal glycoprotein 2/3
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Disease relevance of DSC1


High impact information on DSC1

  • The results show that the tail of the long splice form a of Dsc, but not its shorter splice form b, contains sufficient information to recruit desmoplakin and plakoglobin to connexon membrane paracrystals (gap junctions) and to form a novel kind of plaque at which cytokeratin IFs attach [4].
  • Direct Ca2+-dependent heterophilic interaction between desmosomal cadherins, desmoglein and desmocollin, contributes to cell-cell adhesion [5].
  • These assays have shown that plakoglobin associates most tightly with the C-domain of Dsg, to a lesser degree with that of Dsc and only weakly with the C-domain of E-cadherin [6].
  • The 115-44-kD glycopolypeptides were also recognized by antisera raised against desmoglein II/desmocollin glycoproteins isolated from bovine spinous layer desmosomes [7].
  • This adhesion is specifically blocked by short peptides corresponding to the putative cell adhesion recognition sites of desmocollin and desmoglein [8].

Biological context of DSC1


Anatomical context of DSC1

  • DSC1 was not detected in any of the nonkeratinizing human epithelia examined (buccal mucosa, cervix, esophagus), indicating that it is specific for the keratinizing epithelium of the epidermis [13].
  • Mouse cDNA clones coding for a desmocollin and a desmoglein, desmosomal cadherins that are putative adhesion molecules of the desmosome type of cell-cell junction characteristically found in epithelial tissues, have been isolated and sequenced [14].
  • Desmocollin 1 and desmoglein 1 expression in human epidermis and keratinizing oral mucosa: a comparative immunohistochemical and molecular study [15].
  • Different effects of dominant negative mutants of desmocollin and desmoglein on the cell-cell adhesion of keratinocytes [16].
  • These findings lead us to speculate that Dsc interacts with components of the adherens junctions through beta-catenin, and plays a role in nucleating desmosomes after the adherens junctions have been established [16].

Associations of DSC1 with chemical compounds

  • Using alanine scanning mutagenesis and the co-immunoprecipitation assay we identified nine hydrophobic amino acids within the arm repeats 1-3 of plakoglobin, that are required for binding to Dsg and Dsc [17].
  • Reduced desmocollin expression may indicate compromised desmosomal adhesion, leading to the skin fragility that results from retinoid treatment [18].
  • Voltage-gated sodium channel genes hscp and hDSC1 of Heliothis virescens F. genomic organization [19].
  • By immunogold post embedding technique, we studied in anagen HFs the modulation of the synthesis of desmocollin 1 (Dsc1), a transmembrane glycoprotein specifically synthesized in the IRS and in the companion layer [20].

Other interactions of DSC1


Analytical, diagnostic and therapeutic context of DSC1

  • We elucidated the exon-intron structures of the DSC1 and DSC3 genes using PCR amplification of genomic DNA and direct sequencing of BAC clones [25].
  • The observed specific coimmunoprecipitation of MPg by anti-Dsc antibodies in coculture indicates that an intercellular interaction between Dsc1 and Dsg is involved in cell-cell adhesion [5].
  • By immunofluorescence and immunogold EM, Dsc1 labeling was not detected in any suprabasal layer of KOM, but it was present in the upper spinous/granular layers of epidermis [15].
  • RT-PCR analysis confirmed that in KOM Dsc1 gene expression was undetectable [15].
  • Using Northern blot analyses and ribonuclease protection assays we have found an approximately 5.6 kb mRNA encoding Dsc2 in all the diverse human tissues, tumors and cell lines examined that are known to possess desmosomes, i.e. not only epithelial cells but also myocardiac cells and lymph nodes [26].


  1. The detection of IgG and IgA autoantibodies to desmocollins 1-3 by enzyme-linked immunosorbent assays using baculovirus-expressed proteins, in atypical pemphigus but not in typical pemphigus. Hisamatsu, Y., Amagai, M., Garrod, D.R., Kanzaki, T., Hashimoto, T. Br. J. Dermatol. (2004) [Pubmed]
  2. IgA antikeratinocyte surface autoantibodies from two types of intercellular IgA vesiculopustular dermatosis recognize distinct isoforms of desmocollin. Hashimoto, T., Ebihara, T., Dmochowski, M., Kawamura, K., Suzuki, T., Tsurufuji, S., Garrod, D.R., Nishikawa, T. Arch. Dermatol. Res. (1996) [Pubmed]
  3. Desmocollin switching in colorectal cancer. Khan, K., Hardy, R., Haq, A., Ogunbiyi, O., Morton, D., Chidgey, M. Br. J. Cancer (2006) [Pubmed]
  4. 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]
  5. 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]
  6. The binding of plakoglobin to desmosomal cadherins: patterns of binding sites and topogenic potential. Chitaev, N.A., Leube, R.E., Troyanovsky, R.B., Eshkind, L.G., Franke, W.W., Troyanovsky, S.M. J. Cell Biol. (1996) [Pubmed]
  7. Evidence that major 78-44-kD concanavalin A-binding glycopolypeptides in pig epidermis arise from the degradation of desmosomal glycoproteins during terminal differentiation. King, I.A., Tabiowo, A., Fryer, P.R. J. Cell Biol. (1987) [Pubmed]
  8. Desmosomal adhesion inhibits invasive behavior. Tselepis, C., Chidgey, M., North, A., Garrod, D. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  9. Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3. Whittock, N.V., Hunt, D.M., Rickman, L., Malhi, S., Vogazianou, A.P., Dawson, L.F., Eady, R.A., Buxton, R.S., McGrath, J.A. Biochem. Biophys. Res. Commun. (2000) [Pubmed]
  10. Cloning of the cDNA (DSC1) coding for human type 1 desmocollin and its assignment to chromosome 18. King, I.A., Arnemann, J., Spurr, N.K., Buxton, R.S. Genomics (1993) [Pubmed]
  11. 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]
  12. Antisense expression of a desmocollin gene in MDCK cells alters desmosome plaque assembly but does not affect desmoglein expression. Roberts, G.A., Burdett, I.D., Pidsley, S.C., King, I.A., Magee, A.I., Buxton, R.S. Eur. J. Cell Biol. (1998) [Pubmed]
  13. The desmocollins of human foreskin epidermis: identification and chromosomal assignment of a third gene and expression patterns of the three isoforms. King, I.A., Sullivan, K.H., Bennett, R., Buxton, R.S. J. Invest. Dermatol. (1995) [Pubmed]
  14. Mouse desmocollin (Dsc3) and desmoglein (Dsg1) genes are closely linked in the proximal region of chromosome 18. Buxton, R.S., Wheeler, G.N., Pidsley, S.C., Marsden, M.D., Adams, M.J., Jenkins, N.A., Gilbert, D.J., Copeland, N.G. Genomics (1994) [Pubmed]
  15. Desmocollin 1 and desmoglein 1 expression in human epidermis and keratinizing oral mucosa: a comparative immunohistochemical and molecular study. Donetti, E., Bedoni, M., Boschini, E., Dellavia, C., Barajon, I., Gagliano, N. Arch. Dermatol. Res. (2005) [Pubmed]
  16. Different effects of dominant negative mutants of desmocollin and desmoglein on the cell-cell adhesion of keratinocytes. Hanakawa, Y., Amagai, M., Shirakata, Y., Sayama, K., Hashimoto, K. J. Cell. Sci. (2000) [Pubmed]
  17. Molecular organization of the desmoglein-plakoglobin complex. Chitaev, N.A., Averbakh, A.Z., Troyanovsky, R.B., Troyanovsky, S.M. J. Cell. Sci. (1998) [Pubmed]
  18. All-trans retinoic acid compromises desmosome expression in human epidermis. Humphries, J.D., Parry, E.J., Watson, R.E., Garrod, D.R., Griffiths, C.E. Br. J. Dermatol. (1998) [Pubmed]
  19. Voltage-gated sodium channel genes hscp and hDSC1 of Heliothis virescens F. genomic organization. Park, Y., Taylor, M.F., Feyereisen, R. Insect Mol. Biol. (1999) [Pubmed]
  20. Desmocollin 1 expression and desmosomal remodeling during terminal differentiation of human anagen hair follicle: an electron microscopic study. Donetti, E., Boschini, E., Cerini, A., Selleri, S., Rumio, C., Barajon, I. Exp. Dermatol. (2004) [Pubmed]
  21. Forms of epithelial differentiation of draining sinus in acne inversa (hidradenitis suppurativa). Kurzen, H., Jung, E.G., Hartschuh, W., Moll, I., Franke, W.W., Moll, R. Br. J. Dermatol. (1999) [Pubmed]
  22. Exacerbation of paraneoplastic pemphigus by cyclophosphamide treatment: detection of novel autoantigens and bronchial autoantibodies. Preisz, K., Horváth, A., Sárdy, M., Somlai, B., Hársing, J., Amagai, M., Hashimoto, T., Nagata, Y., Fekete, S., Kárpáti, S. Br. J. Dermatol. (2004) [Pubmed]
  23. Impaired trafficking of the desmoplakins in cultured Darier's disease keratinocytes. Dhitavat, J., Cobbold, C., Leslie, N., Burge, S., Hovnanian, A. J. Invest. Dermatol. (2003) [Pubmed]
  24. Autoimmunity against desmosomal cadherins in pemphigus. Amagai, M. J. Dermatol. Sci. (1999) [Pubmed]
  25. Structural analysis reflects the evolutionary relationship between the human desmocollin gene family members. Cserhalmi-Friedman, P.B., Frank, J.A., Ahmad, W., Panteleyev, A.A., Aita, V.M., Christiano, A.M. Exp. Dermatol. (2001) [Pubmed]
  26. The widespread human desmocollin Dsc2 and tissue-specific patterns of synthesis of various desmocollin subtypes. Nuber, U.A., Schäfer, S., Schmidt, A., Koch, P.J., Franke, W.W. Eur. J. Cell Biol. (1995) [Pubmed]
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