Desmoglein-1 is a protein that in humans is encoded by the DSG1gene.[1][2] Desmoglein-1 is expressed everywhere in the skin epidermis, but mainly it is expressed in the superficial upper layers of the skin epidermis.[3]
Desmosomes are cell-cell junctions between epithelial, myocardial and certain other cell types. Desmoglein-1 is a calcium-binding transmembraneglycoprotein component of desmosomes in vertebrate epithelial cells. Currently, four desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. The protein encoded by this gene has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus foliaceus.[2] It has been found that Desmoglein-1 is the target antigen in majority of the cases linked to IgG/IgA pemphigus, which is an autoimmune IgG/IgA antibody mediated response.[4]
Deficiency of the Desmoglein-1 protein has been found to be associated with increased expression of the for multiple genes encoding allergy related cytokines.[5] Desmoglein-1 is haploinsufficient and a mutation in the gene can cause the autosomal dominant mutation striate palmoplantar keratoderma.[6] Recently, cases have arose where the homozygous loss of the Desmoglein-1 gene has resulted in a rare syndrome known as SAM syndrome - severe dermatitis, multiple allergies, and metabolic wasting.[7]
↑Chen X, Bonne S, Hatzfeld M, van Roy F, Green KJ (March 2002). "Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling". The Journal of Biological Chemistry. 277 (12): 10512–22. doi:10.1074/jbc.M108765200. PMID11790773.
↑Besco JA, Hooft van Huijsduijnen R, Frostholm A, Rotter A (October 2006). "Intracellular substrates of brain-enriched receptor protein tyrosine phosphatase rho (RPTPrho/PTPRT)". Brain Research. 1116 (1): 50–7. doi:10.1016/j.brainres.2006.07.122. PMID16973135.
Further reading
Amagai M (February 2003). "Desmoglein as a target in autoimmunity and infection". Journal of the American Academy of Dermatology. 48 (2): 244–52. doi:10.1067/mjd.2003.7. PMID12582396.
Amagai M, Klaus-Kovtun V, Stanley JR (November 1991). "Autoantibodies against a novel epithelial cadherin in pemphigus vulgaris, a disease of cell adhesion". Cell. 67 (5): 869–77. doi:10.1016/0092-8674(91)90360-B. PMID1720352.
Martínez RD (1992). "[Characterization of the desmoglein in renal cells in culture]" [Characterization of the desmoglein in renal cells in culture]. Revista Alergia Mexico (in Spanish). 38 (2): 59–64. PMID1754823.CS1 maint: Unrecognized language (link)
Nilles LA, Parry DA, Powers EE, Angst BD, Wagner RM, Green KJ (August 1991). "Structural analysis and expression of human desmoglein: a cadherin-like component of the desmosome". Journal of Cell Science. 99 ( Pt 4) (4): 809–21. PMID1770008.
Roh JY, Stanley JR (May 1995). "Plakoglobin binding by human Dsg3 (pemphigus vulgaris antigen) in keratinocytes requires the cadherin-like intracytoplasmic segment". The Journal of Investigative Dermatology. 104 (5): 720–4. doi:10.1111/1523-1747.ep12606963. PMID7738346.
Simrak D, Cowley CM, Buxton RS, Arnemann J (January 1995). "Tandem arrangement of the closely linked desmoglein genes on human chromosome 18". Genomics. 25 (2): 591–4. doi:10.1016/0888-7543(95)80067-V. PMID7790000.
Wang Y, Amagai M, Minoshima S, Sakai K, Green KJ, Nishikawa T, Shimizu N (April 1994). "The human genes for desmogleins (DSG1 and DSG3) are located in a small region on chromosome 18q12". Genomics. 20 (3): 492–5. doi:10.1006/geno.1994.1207. PMID8034325.
Schäfer S, Koch PJ, Franke WW (April 1994). "Identification of the ubiquitous human desmoglein, Dsg2, and the expression catalogue of the desmoglein subfamily of desmosomal cadherins". Experimental Cell Research. 211 (2): 391–9. doi:10.1006/excr.1994.1103. PMID8143788.
Rickman L, Simrak D, Stevens HP, Hunt DM, King IA, Bryant SP, Eady RA, Leigh IM, Arnemann J, Magee AI, Kelsell DP, Buxton RS (June 1999). "N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma". Human Molecular Genetics. 8 (6): 971–6. doi:10.1093/hmg/8.6.971. PMID10332028.
Li G, Schaider H, Satyamoorthy K, Hanakawa Y, Hashimoto K, Herlyn M (December 2001). "Downregulation of E-cadherin and Desmoglein 1 by autocrine hepatocyte growth factor during melanoma development". Oncogene. 20 (56): 8125–35. doi:10.1038/sj.onc.1205034. PMID11781826.
Chen X, Bonne S, Hatzfeld M, van Roy F, Green KJ (March 2002). "Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling". The Journal of Biological Chemistry. 277 (12): 10512–22. doi:10.1074/jbc.M108765200. PMID11790773.
Martel P, Gilbert D, Busson M, Loiseau P, Lepage V, Drouot L, Delaporte E, Prost C, Joly P, Charron D, Tron F (June 2002). "Epistasis between DSG1 and HLA class II genes in pemphigus foliaceus". Genes and Immunity. 3 (4): 205–10. doi:10.1038/sj.gene.6363839. PMID12058255.
Hanakawa Y, Amagai M, Shirakata Y, Yahata Y, Tokumaru S, Yamasaki K, Tohyama M, Sayama K, Hashimoto K (December 2002). "Differential effects of desmoglein 1 and desmoglein 3 on desmosome formation". The Journal of Investigative Dermatology. 119 (6): 1231–6. doi:10.1046/j.1523-1747.2002.19648.x. PMID12485422.
