CDSN
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Corneodesmosin | |||||
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Identifiers | |||||
Symbols | CDSN ; D6S586E; HTSS; S | ||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 48005 | ||||
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RNA expression pattern | |||||
More reference expression data | |||||
Orthologs | |||||
Template:GNF Ortholog box | |||||
Species | Human | Mouse | |||
Entrez | n/a | n/a | |||
Ensembl | n/a | n/a | |||
UniProt | n/a | n/a | |||
RefSeq (mRNA) | n/a | n/a | |||
RefSeq (protein) | n/a | n/a | |||
Location (UCSC) | n/a | n/a | |||
PubMed search | n/a | n/a |
Corneodesmosin, also known as CDSN, is a human gene.[1]
This gene encodes a protein found in corneodesmosomes, which localize to 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.[1]
References
Further reading
- Toribio J, Quiñones PA (1975). "Hereditary hypotrichosis simplex of the scalp. Evidence for autosomal dominant inheritance". Br. J. Dermatol. 91 (6): 687–96. PMID 4141628.
- Lundström A, Serre G, Haftek M, Egelrud T (1995). "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. PMID 7818278.
- Zhou Y, Chaplin DD (1993). "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. PMID 8415725.
- Simon M, Montézin M, Guerrin M; et al. (1998). "Characterization and purification of human corneodesmosin, an epidermal basic glycoprotein associated with corneocyte-specific modified desmosomes". J. Biol. Chem. 272 (50): 31770–6. PMID 9395522.
- Guerrin M, Simon M, Montézin M; et al. (1998). "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. PMID 9712893.
- Jenisch S, Koch S, Henseler T; et al. (2000). "Corneodesmosin gene polymorphism demonstrates strong linkage disequilibrium with HLA and association with psoriasis vulgaris". Tissue Antigens. 54 (5): 439–49. PMID 10599883.
- Guerrin M, Vincent C, Simon M; et al. (2001). "Identification of six novel polymorphisms in the human corneodesmosin gene". Tissue Antigens. 57 (1): 32–8. PMID 11169256.
- Simon M, Jonca N, Guerrin M; et al. (2001). "Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation". J. Biol. Chem. 276 (23): 20292–9. doi:10.1074/jbc.M100201200. PMID 11279026.
- Jonca N, Guerrin M, Hadjiolova K; et al. (2002). "Corneodesmosin, a component of epidermal corneocyte desmosomes, displays homophilic adhesive properties". J. Biol. Chem. 277 (7): 5024–9. doi:10.1074/jbc.M108438200. PMID 11739386.
- Hui J, Oka A, Tamiya G; et al. (2003). "Corneodesmosin DNA polymorphisms in MHC haplotypes and Japanese patients with psoriasis". Tissue Antigens. 60 (1): 77–83. PMID 12366786.
- Orrù S, Giuressi E, Casula M; et al. (2003). "Psoriasis is associated with a SNP haplotype of the corneodesmosin gene (CDSN)". Tissue Antigens. 60 (4): 292–8. PMID 12472658.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.
- Levy-Nissenbaum E, Betz RC, Frydman M; et al. (2003). "Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin". Nat. Genet. 34 (2): 151–3. doi:10.1038/ng1163. PMID 12754508.
- Caubet C, Jonca N, Lopez F; et al. (2004). "Homo-oligomerization of human corneodesmosin is mediated by its N-terminal glycine loop domain". J. Invest. Dermatol. 122 (3): 747–54. doi:10.1111/j.0022-202X.2004.22331.x. PMID 15086562.
- Caubet C, Jonca N, Brattsand M; et al. (2004). "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. doi:10.1111/j.0022-202X.2004.22512.x. PMID 15140227.
- Capon F, Allen MH, Ameen M; et al. (2005). "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. doi:10.1093/hmg/ddh273. PMID 15333584.
- Yang T, Liang D, Koch PJ; et al. (2004). "Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- mice". Genes Dev. 18 (19): 2354–8. doi:10.1101/gad.1232104. PMID 15466487.
- Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
- Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.
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