Corneodesmosin Explained

Corneodesmosin is a protein that in humans is encoded by the CDSN gene.^{[1] [2] [3]}

This gene encodes a protein found in corneodesmosomes, which localize to the human epidermis and other cornified squamous epithelia. During maturation of the cornified layers, the protein undergoes a series of cleavages, which are thought to be required for desquamation. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6.^[4]

See also

• Hypertrichosis simplex of the scalp
• List of conditions caused by problems with junctional proteins

Further reading

• Toribio J, Quiñones PA . Hereditary hypotrichosis simplex of the scalp. Evidence for autosomal dominant inheritance. . Br. J. Dermatol. . 91 . 6 . 687–96 . 1975 . 4141628 . 10.1111/j.1365-2133.1974.tb12455.x. 28843515 .
• Lundström A, Serre G, Haftek M, Egelrud T . Evidence for a role of corneodesmosin, a protein which may serve to modify desmosomes during cornification, in stratum corneum cell cohesion and desquamation. . Arch. Dermatol. Res. . 286 . 7 . 369–75 . 1995 . 7818278 . 10.1007/BF00371795 . 614870 .
• Guerrin M, Simon M, Montézin M . 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. . J. Biol. Chem. . 273 . 35 . 22640–7 . 1998 . 9712893 . 10.1074/jbc.273.35.22640 . etal. free .
• Jenisch S, Koch S, Henseler T . Corneodesmosin gene polymorphism demonstrates strong linkage disequilibrium with HLA and association with psoriasis vulgaris. . Tissue Antigens . 54 . 5 . 439–49 . 2000 . 10599883 . 10.1034/j.1399-0039.1999.540501.x . 2027.42/66173 . etal. free .
• Guerrin M, Vincent C, Simon M . Identification of six novel polymorphisms in the human corneodesmosin gene. . Tissue Antigens . 57 . 1 . 32–8 . 2001 . 11169256 . 10.1034/j.1399-0039.2001.057001032.x . etal.
• Simon M, Jonca N, Guerrin M . Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation. . J. Biol. Chem. . 276 . 23 . 20292–9 . 2001 . 11279026 . 10.1074/jbc.M100201200 . etal. free .
• Jonca N, Guerrin M, Hadjiolova K . Corneodesmosin, a component of epidermal corneocyte desmosomes, displays homophilic adhesive properties. . J. Biol. Chem. . 277 . 7 . 5024–9 . 2002 . 11739386 . 10.1074/jbc.M108438200 . etal. free .
• Hui J, Oka A, Tamiya G . Corneodesmosin DNA polymorphisms in MHC haplotypes and Japanese patients with psoriasis. . Tissue Antigens . 60 . 1 . 77–83 . 2003 . 12366786 . 10.1034/j.1399-0039.2002.600110.x . etal.
• Orrù S, Giuressi E, Casula M . Psoriasis is associated with a SNP haplotype of the corneodesmosin gene (CDSN). . Tissue Antigens . 60 . 4 . 292–8 . 2003 . 12472658 . 10.1034/j.1399-0039.2002.600403.x . etal.
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Levy-Nissenbaum E, Betz RC, Frydman M . Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. . Nat. Genet. . 34 . 2 . 151–3 . 2003 . 12754508 . 10.1038/ng1163 . 10116539 . etal.
• Caubet C, Jonca N, Lopez F . Homo-oligomerization of human corneodesmosin is mediated by its N-terminal glycine loop domain. . J. Invest. Dermatol. . 122 . 3 . 747–54 . 2004 . 15086562 . 10.1111/j.0022-202X.2004.22331.x . etal. free .
• Caubet C, Jonca N, Brattsand M . Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7. . J. Invest. Dermatol. . 122 . 5 . 1235–44 . 2004 . 15140227 . 10.1111/j.0022-202X.2004.22512.x . etal. free .
• Capon F, Allen MH, Ameen M . A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups. . Hum. Mol. Genet. . 13 . 20 . 2361–8 . 2005 . 15333584 . 10.1093/hmg/ddh273 . etal. free .
• Yang T, Liang D, Koch PJ . Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- mice. . Genes Dev. . 18 . 19 . 2354–8 . 2004 . 15466487 . 10.1101/gad.1232104 . 522985 . etal.
• Rual JF, Venkatesan K, Hao T . Towards a proteome-scale map of the human protein-protein interaction network. . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 . etal.
• Kimura K, Wakamatsu A, Suzuki Y . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 . etal.

Notes and References

1. Simon M, Montezin M, Guerrin M, Durieux JJ, Serre G . Characterization and purification of human corneodesmosin, an epidermal basic glycoprotein associated with corneocyte-specific modified desmosomes . J Biol Chem . 272 . 50 . 31770–6 . Jan 1998 . 9395522 . 10.1074/jbc.272.50.31770 . free .
2. Zhou Y, Chaplin DD . Identification in the HLA class I region of a gene expressed late in keratinocyte differentiation . Proc Natl Acad Sci U S A . 90 . 20 . 9470–4 . Nov 1993 . 8415725 . 47590 . 10.1073/pnas.90.20.9470 . 1993PNAS...90.9470Z . free .
3. Web site: Entrez Gene: CDSN corneodesmosin.
4. Web site: Entrez Gene: CDSN corneodesmosin.