CDSN

From Wikipedia, the free encyclopedia


Corneodesmosin
Identifiers
Symbol(s) CDSN; D6S586E; HTSS; S
External IDs OMIM: 602593 MGI: 3505689 HomoloGene: 48005
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 1041 386463
Ensembl ENSG00000204539 ENSMUSG00000039518
Uniprot n/a Q3V0M9
Refseq NM_001264 (mRNA)
NP_001255 (protein)		 NM_001008424 (mRNA)
NP_001008424 (protein)
Location Chr 6: 31.19 - 31.2 Mb Chr 17: 35.16 - 35.17 Mb
Pubmed search [1] [2]

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]

[edit] References

  1. ^ a b Entrez Gene: CDSN corneodesmosin.

[edit] 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. 
 This article on a gene on chromosome 6 is a stub. You can help Wikipedia by expanding it.