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.[5]
^ abcGRCh38: Ensembl release 89: ENSG00000204539 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Simon M, Montezin M, Guerrin M, Durieux JJ, Serre G (Jan 1998). "Characterization and purification of human corneodesmosin, an epidermal basic glycoprotein associated with corneocyte-specific modified desmosomes". J Biol Chem. 272 (50): 31770–6. doi:10.1074/jbc.272.50.31770. PMID 9395522.
^Zhou Y, Chaplin DD (Nov 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. Bibcode:1993PNAS...90.9470Z. doi:10.1073/pnas.90.20.9470. PMC47590. PMID 8415725.
Toribio J, Quiñones PA (1975). "Hereditary hypotrichosis simplex of the scalp. Evidence for autosomal dominant inheritance". Br. J. Dermatol. 91 (6): 687–96. doi:10.1111/j.1365-2133.1974.tb12455.x. PMID 4141628. S2CID 28843515.
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. doi:10.1007/BF00371795. PMID 7818278. S2CID 614870.
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. doi:10.1074/jbc.273.35.22640. 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" (PDF). Tissue Antigens. 54 (5): 439–49. doi:10.1034/j.1399-0039.1999.540501.x. hdl:2027.42/66173. 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. doi:10.1034/j.1399-0039.2001.057001032.x. 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. doi:10.1034/j.1399-0039.2002.600110.x. 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. doi:10.1034/j.1399-0039.2002.600403.x. 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. 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. S2CID 10116539.
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. PMC522985. 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
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. PMC1356129. PMID 16344560.
This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.
corneodesmosin, protein, that, humans, encoded, cdsn, gene, cdsnidentifiersaliasescdsn, d6s586e, htss, htss1, hypt2, pss1, corneodesmosin, sexternal, idsomim, 602593, homologene, 48005, genecards, cdsngene, location, human, chromosome, human, band6p21, 33start. Corneodesmosin is a protein that in humans is encoded by the CDSN gene 3 4 5 CDSNIdentifiersAliasesCDSN D6S586E HTSS HTSS1 HYPT2 PSS PSS1 corneodesmosin SExternal IDsOMIM 602593 HomoloGene 48005 GeneCards CDSNGene location Human Chr Chromosome 6 human 1 Band6p21 33Start31 115 087 bp 1 End31 120 446 bp 1 RNA expression patternBgeeHumanMouse ortholog Top expressed inskin of abdomenplacentagastrocnemius musclevaginaskeletal muscle tissuethymusgallbladderduodenumleft ventricleright lobe of livern aMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionprotein homodimerization activityCellular componentextracellular region desmosome cell cell junction cornified envelope plasma membraneBiological processcell adhesion skin morphogenesis keratinocyte differentiation epidermis development cornification corneocyte desquamation negative regulation of cornification cell cell adhesionSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez1041n aEnsemblENSG00000204539n aUniProtQ15517n aRefSeq mRNA NM 001264n aRefSeq protein NP 001255n aLocation UCSC Chr 6 31 12 31 12 Mbn aPubMed search 2 n aWikidataView Edit Human 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 5 See also editHypertrichosis simplex of the scalp List of conditions caused by problems with junctional proteinsReferences edit a b c GRCh38 Ensembl release 89 ENSG00000204539 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Simon M Montezin M Guerrin M Durieux JJ Serre G Jan 1998 Characterization and purification of human corneodesmosin an epidermal basic glycoprotein associated with corneocyte specific modified desmosomes J Biol Chem 272 50 31770 6 doi 10 1074 jbc 272 50 31770 PMID 9395522 Zhou Y Chaplin DD Nov 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 Bibcode 1993PNAS 90 9470Z doi 10 1073 pnas 90 20 9470 PMC 47590 PMID 8415725 a b Entrez Gene CDSN corneodesmosin Further reading editToribio J Quinones PA 1975 Hereditary hypotrichosis simplex of the scalp Evidence for autosomal dominant inheritance Br J Dermatol 91 6 687 96 doi 10 1111 j 1365 2133 1974 tb12455 x PMID 4141628 S2CID 28843515 Lundstrom 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 doi 10 1007 BF00371795 PMID 7818278 S2CID 614870 Guerrin M Simon M Montezin 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 doi 10 1074 jbc 273 35 22640 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 PDF Tissue Antigens 54 5 439 49 doi 10 1034 j 1399 0039 1999 540501 x hdl 2027 42 66173 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 doi 10 1034 j 1399 0039 2001 057001032 x 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 doi 10 1034 j 1399 0039 2002 600110 x PMID 12366786 Orru 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 doi 10 1034 j 1399 0039 2002 600403 x 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 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 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 S2CID 10116539 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 PMC 522985 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 Bibcode 2005Natur 437 1173R doi 10 1038 nature04209 PMID 16189514 S2CID 4427026 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 PMC 1356129 PMID 16344560 nbsp This article on a gene on human chromosome 6 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Corneodesmosin amp oldid 1142702878, wikipedia, wiki, book, books, library,
