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Gene Review

CDSN  -  corneodesmosin

Homo sapiens

Synonyms: Corneodesmosin, D6S586E, HTSS, HTSS1, HYPT2, ...
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Disease relevance of CDSN


High impact information on CDSN

  • CDSN, a glycoprotein expressed in the epidermis and inner root sheath (IRS) of hair follicles, is a keratinocyte adhesion molecule [2].
  • Truncated CDSN aggregates were detected in the superficial dermis and at the periphery of hair follicles [2].
  • We have identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp (HSS; OMIM 146520) [2].
  • In addition, terminal-complement complex that was not associated with S protein was detected in myelin sheaths [5].
  • Our analysis suggests that the phenotype is a consequence of desmosomal fragility associated with premature proteolysis of corneodesmosin, an extracellular desmosomal component [6].

Chemical compound and disease context of CDSN


Biological context of CDSN


Anatomical context of CDSN


Associations of CDSN with chemical compounds

  • Moreover, molecular filtration analyses demonstrated for the first time that non-glycosylated CDSN is able to spontaneously form large homo-oligomers in vitro and that the N-terminal glycine loop domain is necessary for the formation of these macromolecular complexes [16].
  • CDSN presents two serine- and glycine-rich domains in its N- and C-terminus that may fold into highly flexible and adhesive secondary structures called glycine loops [16].
  • Immunoelectron microscopy of normal and lesional psoriatic skin demonstrated Cdsn release concomitant with involucrin incorporation into cell envelopes and completed before mature envelope formation [3].
  • Upon sodium dodecyl sulfate polyacrylamide gel electrophoresis and immunochemical analysis, the two isolated complexes had identical subunit compositions, except that the MAC lacked the S-protein [20].
  • Vitronectin, also known as serum-spreading factor or S-protein, mediates cell adhesion and inhibits formation of the membrane-lytic complex of complement and the rapid inactivation of thrombin by antithrombin III in the presence of heparin [21].

Physical interactions of CDSN

  • Analysis of the MDMX-S protein indicated that the 13 novel amino acids at its carboxy terminus was responsible for high affinity binding to p53 in vitro and for high level expression of the protein in cells [22].

Other interactions of CDSN

  • Using the recombinant form of CDSN, either with its N-glycan chain or enzymatically deglycosylated, we also demonstrated that oligosaccharide residues do not protect CDSN against proteolysis by SCCE [23].
  • OBJECTIVES: We aimed to determine whether Cw6 and the genetic polymorphism of the CDSN gene, POU5F1 gene, MICA gene and the gene for TNF-alpha promoter region were associated with an increased risk of psoriasis in Chinese patients [1].
  • The previously reported association with CDSN and HCR was observed to be due to the existence of the associated alleles lying on the most commonly over-transmitted haplotype [24].
  • These alleles are in strong linkage disequilibrium with HLA-B and -C, indicating that the polymorphism of the CD gene is ancient and well conserved rather than sporadic [25].
  • One allele at the CD locus, designated CD2, displayed strong linkage disequilibrium with HLA-Cw6, the HLA allele most prominently associated with psoriasis [25].

Analytical, diagnostic and therapeutic context of CDSN

  • After DNA extraction, sequencing analysis of the CDSN gene and restriction enzyme analysis with PsuI were performed [26].
  • Precise epitope mapping allowed further characterization of the molecular forms of corneodesmosin present in the most superficial cornified layers, where fragments corresponding to the central region of the protein were detected [19].
  • To investigate a potential role for Cdsn in psoriasis pathogenesis, protein expression studies were performed by quantitative immunohistochemistry on normal skin, psoriatic skin (lesional and nonlesional), and other skin disorders using monoclonal antibodies (G36-19 and F28-27) [3].
  • Immunizations of outbred rabbits with the monoepitope MAP that contains the pre-S(2) antigen resulted in high-titered antibody response to the middle protein, but the other monoepitope, containing only the a-determinant peptide antigen, resulted in poor immune responses to either the peptide antigens or to the S protein [27].
  • We have determined by x-ray crystallography the structure of a proteolytically stable core fragment from the heptad repeat (HR) regions HR1 and HR2 of the SARS-CoV S protein [28].


  1. A study of candidate genes for psoriasis near HLA-C in Chinese patients with psoriasis. Chang, Y.T., Tsai, S.F., Lee, D.D., Shiao, Y.M., Huang, C.Y., Liu, H.N., Wang, W.J., Wong, C.K. Br. J. Dermatol. (2003) [Pubmed]
  2. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Levy-Nissenbaum, E., Betz, R.C., Frydman, M., Simon, M., Lahat, H., Bakhan, T., Goldman, B., Bygum, A., Pierick, M., Hillmer, A.M., Jonca, N., Toribio, J., Kruse, R., Dewald, G., Cichon, S., Kubisch, C., Guerrin, M., Serre, G., Nöthen, M.M., Pras, E. Nat. Genet. (2003) [Pubmed]
  3. Corneodesmosin expression in psoriasis vulgaris differs from normal skin and other inflammatory skin disorders. Allen, M., Ishida-Yamamoto, A., McGrath, J., Davison, S., Iizuka, H., Simon, M., Guerrin, M., Hayday, A., Vaughan, R., Serre, G., Trembath, R., Barker, J. Lab. Invest. (2001) [Pubmed]
  4. Selection of a secretion-incompetent mutant in the serum of a patient with severe hepatitis B. Kalinina, T., Riu, A., Fischer, L., Santantonio, T., Will, H., Sterneck, M. Gastroenterology (2003) [Pubmed]
  5. Complement-mediated demyelination in patients with IgM monoclonal gammopathy and polyneuropathy. Monaco, S., Bonetti, B., Ferrari, S., Moretto, G., Nardelli, E., Tedesco, F., Mollnes, T.E., Nobile-Orazio, E., Manfredini, E., Bonazzi, L. N. Engl. J. Med. (1990) [Pubmed]
  6. Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- mice. Yang, T., Liang, D., Koch, P.J., Hohl, D., Kheradmand, F., Overbeek, P.A. Genes Dev. (2004) [Pubmed]
  7. Induction of IL-8 release in lung cells via activator protein-1 by recombinant baculovirus displaying severe acute respiratory syndrome-coronavirus spike proteins: identification of two functional regions. Chang, Y.J., Liu, C.Y., Chiang, B.L., Chao, Y.C., Chen, C.C. J. Immunol. (2004) [Pubmed]
  8. Human skeletal myoblasts spontaneously activate allogeneic complement but are resistant to killing. Gasque, P., Morgan, B.P., Legoedec, J., Chan, P., Fontaine, M. J. Immunol. (1996) [Pubmed]
  9. Retroviruses pseudotyped with the severe acute respiratory syndrome coronavirus spike protein efficiently infect cells expressing angiotensin-converting enzyme 2. Moore, M.J., Dorfman, T., Li, W., Wong, S.K., Li, Y., Kuhn, J.H., Coderre, J., Vasilieva, N., Han, Z., Greenough, T.C., Farzan, M., Choe, H. J. Virol. (2004) [Pubmed]
  10. The S protein of bovine coronavirus is a hemagglutinin recognizing 9-O-acetylated sialic acid as a receptor determinant. Schultze, B., Gross, H.J., Brossmer, R., Herrler, G. J. Virol. (1991) [Pubmed]
  11. Mapping of the major psoriasis-susceptibility locus (PSORS1) in a 70-Kb interval around the corneodesmosin gene (CDSN). Orrù, S., Giuressi, E., Carcassi, C., Casula, M., Contu, L. Am. J. Hum. Genet. (2005) [Pubmed]
  12. A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups. Capon, F., Allen, M.H., Ameen, M., Burden, A.D., Tillman, D., Barker, J.N., Trembath, R.C. Hum. Mol. Genet. (2004) [Pubmed]
  13. Psoriasis is associated with a SNP haplotype of the corneodesmosin gene (CDSN). Orrù, S., Giuressi, E., Casula, M., Loizedda, A., Murru, R., Mulargia, M., Masala, M.V., Cerimele, D., Zucca, M., Aste, N., Biggio, P., Carcassi, C., Contu, L. Tissue Antigens (2002) [Pubmed]
  14. Corneodesmosin gene: no evidence for PSORS 1 gene in North-eastern Thai psoriasis patients. Romphruk, A.V., Oka, A., Romphruk, A., Tomizawa, M., Choonhakarn, C., Naruse, T.K., Puapairoj, C., Tamiya, G., Leelayuwat, C., Inoko, H. Tissue Antigens (2003) [Pubmed]
  15. Corneodesmosin (CDSN) gene association with psoriasis vulgaris in Caucasian but not in Japanese populations. Ameen, M., Allen, M.H., Fisher, S.A., Lewis, C.M., Cuthbert, A., Kondeatis, E., Vaughan, R.W., Murakami, H., Nakagawa, H., Barker, J.N. Clin. Exp. Dermatol. (2005) [Pubmed]
  16. Homo-oligomerization of human corneodesmosin is mediated by its N-terminal glycine loop domain. Caubet, C., Jonca, N., Lopez, F., Estève, J.P., Simon, M., Serre, G. J. Invest. Dermatol. (2004) [Pubmed]
  17. Family-based analysis using a dense single-nucleotide polymorphism-based map defines genetic variation at PSORS1, the major psoriasis-susceptibility locus. Veal, C.D., Capon, F., Allen, M.H., Heath, E.K., Evans, J.C., Jones, A., Patel, S., Burden, D., Tillman, D., Barker, J.N., Trembath, R.C. Am. J. Hum. Genet. (2002) [Pubmed]
  18. Corneodesmosin, a component of epidermal corneocyte desmosomes, displays homophilic adhesive properties. Jonca, N., Guerrin, M., Hadjiolova, K., Caubet, C., Gallinaro, H., Simon, M., Serre, G. J. Biol. Chem. (2002) [Pubmed]
  19. Expression cloning of human corneodesmosin proves its identity with the product of the S gene and allows improved characterization of its processing during keratinocyte differentiation. Guerrin, M., Simon, M., Montézin, M., Haftek, M., Vincent, C., Serre, G. J. Biol. Chem. (1998) [Pubmed]
  20. C5b-9 dimer: isolation from complement lysed cells and ultrastructural identification with complement-dependent membrane lesions. Biesecker, G., Podack, E.R., Halverson, C.A., Müller-Eberhard, H.J. J. Exp. Med. (1979) [Pubmed]
  21. Plasma vitronectin polymorphism in normal subjects and patients with disseminated intravascular coagulation. Conlan, M.G., Tomasini, B.R., Schultz, R.L., Mosher, D.F. Blood (1988) [Pubmed]
  22. Identification of a domain within MDMX-S that is responsible for its high affinity interaction with p53 and high-level expression in mammalian cells. Rallapalli, R., Strachan, G., Tuan, R.S., Hall, D.J. J. Cell. Biochem. (2003) [Pubmed]
  23. 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]
  24. Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR. Helms, C., Saccone, N.L., Cao, L., Daw, J.A., Cao, K., Hsu, T.M., Taillon-Miller, P., Duan, S., Gordon, D., Pierce, B., Ott, J., Rice, J., Fernandez-Vina, M.A., Kwok, P.Y., Menter, A., Bowcock, A.M. Hum. Genet. (2005) [Pubmed]
  25. Corneodesmosin gene polymorphism demonstrates strong linkage disequilibrium with HLA and association with psoriasis vulgaris. Jenisch, S., Koch, S., Henseler, T., Nair, R.P., Elder, J.T., Watts, C.E., Westphal, E., Voorhees, J.J., Christophers, E., Krönke, M. Tissue Antigens (1999) [Pubmed]
  26. A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp. Dávalos, N.O., García-Vargas, A., Pforr, J., Dávalos, I.P., Picos-Cárdenas, V.J., García-Cruz, D., Kruse, R., Figuera, L.E., Nöthen, M.M., Betz, R.C. Br. J. Dermatol. (2005) [Pubmed]
  27. Vaccine engineering: enhancement of immunogenicity of synthetic peptide vaccines related to hepatitis in chemically defined models consisting of T- and B-cell epitopes. Tam, J.P., Lu, Y.A. Proc. Natl. Acad. Sci. U.S.A. (1989) [Pubmed]
  28. Structure of a proteolytically resistant core from the severe acute respiratory syndrome coronavirus S2 fusion protein. Supekar, V.M., Bruckmann, C., Ingallinella, P., Bianchi, E., Pessi, A., Carfí, A. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
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