DSE (gene) explained

Dermatan-sulfate epimerase is an enzyme that in humans is encoded by the DSE gene.^{[1] [2] [3] [4] [5]}

The protein encoded by this gene is an epimerase required for biosynthesis of dermatan sulfate^[6] and a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is localized to the endoplasmic reticulum. Two transcript variants encoding the same protein have been found for this gene.^[3]

Clinical significance

• Ehlers-Danlos syndrome Musculocontractural type is associated with mutations in the DSE gene.

Further reading

• Nakao M . Identification of a gene coding for a new squamous cell carcinoma antigen recognized by the CTL . J. Immunol. . 164 . 5 . 2565–74 . 2000 . 10679095 . 10.4049/jimmunol.164.5.2565. vanc. Shichijo S . Imaizumi T . 3 . Inoue . Y . Matsunaga . K . Yamada . A . Kikuchi . M . Tsuda . N . Ohta . K . free .
• Tanaka S . Expression of tumor-rejection antigens in gynecologic cancers . Jpn. J. Cancer Res. . 91 . 11 . 1177–84 . 2001 . 11092984 . 5926290 . 10.1111/j.1349-7006.2000.tb00902.x. vanc. Tsuda N . Kawano K . 3 . Sakamoto . M . Nishida . T . Hashimoto . T . Shichijo . S . Kamura . T . Itoh . K .
• Strausberg RL . 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 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Mungall AJ . The DNA sequence and analysis of human chromosome 6 . Nature . 425 . 6960 . 805–11 . 2003 . 14574404 . 10.1038/nature02055 . vanc. Palmer SA . Sims SK . 3 . Edwards . C. A. . Ashurst . J. L. . Wilming . L. . Jones . M. C. . Horton . R. . Hunt . S. E. . 2003Natur.425..805M . free .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . vanc. Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Gerhard DS . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Kimura K . 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 . vanc. Wakamatsu A . Suzuki Y . 3 . Ota . T . Nishikawa . T . Yamashita . R . Yamamoto . J . Sekine . M . Tsuritani . K .

Notes and References

1. Sasatomi T, Suefuji Y, Matsunaga K, Yamana H, Miyagi Y, Araki Y, Ogata Y, Itoh K, Shirouzu K . Expression of tumor rejection antigens in colorectal carcinomas . Cancer . 94 . 6 . 1636–41 . Mar 2002 . 11920522 . 10.1002/cncr.10421 . 33045822 . free .
2. Maccarana M, Olander B, Malmstrom J, Tiedemann K, Aebersold R, Lindahl U, Li JP, Malmstrom A . Biosynthesis of dermatan sulfate: chondroitin-glucuronate C5-epimerase is identical to SART2 . J Biol Chem . 281 . 17 . 11560–8 . Apr 2006 . 16505484 . 10.1074/jbc.M513373200 . free .
3. Web site: Entrez Gene: DSE dermatan sulfate epimerase.
4. Sasatomi T, Suefuji Y, Matsunaga K, Yamana H, Miyagi Y, Araki Y, Ogata Y, Itoh K, Shirouzu K . Expression of tumor rejection antigens in colorectal carcinomas . Cancer . 94 . 6 . 1636–41 . March 2002 . 11920522 . 10.1002/cncr.10421 . 33045822 . free .
5. Maccarana M, Olander B, Malmström J, Tiedemann K, Aebersold R, Lindahl U, Li JP, Malmström A . Biosynthesis of dermatan sulfate: chondroitin-glucuronate C5-epimerase is identical to SART2 . J. Biol. Chem. . 281 . 17 . 11560–8 . April 2006 . 16505484 . 10.1074/jbc.M513373200 . free .
6. Malstrom . Anders . Biosynthesis of dermatan sulphate: Assay and properties of the uronosyl C-5 epimerase . Biochem. J. . 1982 . 201 . 3 . 489–93 . 10.1042/bj2010489 . 7092807 . 1163673 .