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Gene Review

CHST6  -  carbohydrate (N-acetylglucosamine 6-O)...

Homo sapiens

Synonyms: C-GlcNAc6ST, Carbohydrate sulfotransferase 6, Corneal N-acetylglucosamine-6-O-sulfotransferase, GST4-beta, Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta, ...
 
 
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Disease relevance of CHST6

 

High impact information on CHST6

 

Biological context of CHST6

  • Genomic DNA was isolated, and the open reading frame (ORF) of CHST6 was amplified by polymerase chain reaction (PCR) [5].
  • CONCLUSIONS: Mutations identified in the CHST6 gene cosegregated with the disease phenotype in all but one family studied and thus caused MCD [6].
  • In most instances of MCD a homozygous or heterozygous missense mutation in exon 3 of CHST6 was found [7].
  • CONCLUSIONS: The findings fit the haplotype analysis that we reported previously in Icelandic MCD families and indicate that different mutations in CHST6 cause MCD type I and type II in Iceland [8].
  • RESULTS: In 24 families, the corneal disorder could be explained by mutations in the coding region of CHST6 or in the region upstream of this gene in both the maternal and paternal chromosome [7].
 

Anatomical context of CHST6

  • METHODS: Genomic DNA was extracted from peripheral blood leukocytes of the affected patients and their healthy family members, and the mutational status of the CHST6 gene was determined for each patient by a PCR-sequencing approach [9].
  • METHODS: Genomic DNA was extracted from buccal epithelium of 16 affected patients (14 families), 17 unaffected relatives, and 127 controls, followed by polymerase chain reaction amplification and direct sequencing of the CHST6 coding region [10].
  • When hCGn6ST was expressed together with human keratan sulfate Gal-6-sulfotransferase (hKSG6ST), HeLa cells produced highly sulfated carbohydrate detected by an anti-keratan sulfate antibody 5D4 [4].
  • In this report, we analyzed the enzymatic activity of hCGn6ST by expressing it in cultured cells [4].
 

Associations of CHST6 with chemical compounds

 

Enzymatic interactions of CHST6

 

Other interactions of CHST6

  • The human GST4 locus actually contains two highly similar open reading frames (ORF) that are 50 kb apart and encode two highly similar enzyme isoforms termed GST-4 alpha and GST-4 beta [12].
  • Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity [5].
  • PURPOSE: Mutations in a new carbohydrate sulfotransferase gene (CHST6) encoding corneal N-acetylglucosamine-6-sulfotransferase (C-GlcNac-6-ST) have been identified as the cause of macular corneal dystrophy (MCD) in various ethnicities [6].
  • Analysis of the CHST6 gene was performed with polymerase chain reaction and direct sequencing [6].
  • CONCLUSIONS: Nucleotide changes within the coding region of CHST6 are predicted to alter the encoded protein significantly within evolutionary conserved parts of the encoded sulfotransferase [7].
 

Analytical, diagnostic and therapeutic context of CHST6

  • METHODS: DNA was extracted from venous blood obtained from all participants, and the coding region of CHST6 was amplified by polymerase chain reaction (PCR) [13].
  • The purpose of this study was to identify mutations in CHST6 in Japanese patients with MCD and evaluate them by means of immunohistochemistry [5].
  • The ELISA showed that the probands were of MCD type I. CONCLUSIONS: These novel mutations are expected to result in loss of CHST6 function, which would account for the MCD phenotype [14].

References

  1. Novel mutations in the CHST6 gene causing macular corneal dystrophy. Abbruzzese, C., Kuhn, U., Molina, F., Rama, P., De Luca, M. Clin. Genet. (2004) [Pubmed]
  2. Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. Akama, T.O., Nishida, K., Nakayama, J., Watanabe, H., Ozaki, K., Nakamura, T., Dota, A., Kawasaki, S., Inoue, Y., Maeda, N., Yamamoto, S., Fujiwara, T., Thonar, E.J., Shimomura, Y., Kinoshita, S., Tanigami, A., Fukuda, M.N. Nat. Genet. (2000) [Pubmed]
  3. Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate. Akama, T.O., Misra, A.K., Hindsgaul, O., Fukuda, M.N. J. Biol. Chem. (2002) [Pubmed]
  4. Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfate. Akama, T.O., Nakayama, J., Nishida, K., Hiraoka, N., Suzuki, M., McAuliffe, J., Hindsgaul, O., Fukuda, M., Fukuda, M.N. J. Biol. Chem. (2001) [Pubmed]
  5. Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity. Iida-Hasegawa, N., Furuhata, A., Hayatsu, H., Murakami, A., Fujiki, K., Nakayasu, K., Kanai, A. Invest. Ophthalmol. Vis. Sci. (2003) [Pubmed]
  6. Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy. Ha, N.T., Chau, H.M., Cung, l.e. .X., Thanh, T.K., Fujiki, K., Murakami, A., Hiratsuka, Y., Kanai, A. Invest. Ophthalmol. Vis. Sci. (2003) [Pubmed]
  7. CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review. Klintworth, G.K., Smith, C.F., Bowling, B.L. Mol. Vis. (2006) [Pubmed]
  8. Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland. Liu, N.P., Smith, C.F., Bowling, B.L., Jonasson, F., Klintworth, G.K. Mol. Vis. (2006) [Pubmed]
  9. Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. Niel, F., Ellies, P., Dighiero, P., Soria, J., Sabbagh, C., San, C., Renard, G., Delpech, M., Valleix, S. Invest. Ophthalmol. Vis. Sci. (2003) [Pubmed]
  10. Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. Aldave, A.J., Yellore, V.S., Thonar, E.J., Udar, N., Warren, J.F., Yoon, M.K., Cohen, E.J., Rapuano, C.J., Laibson, P.R., Margolis, T.P., Small, K. Am. J. Ophthalmol. (2004) [Pubmed]
  11. Sulfation of endothelial mucin by corneal keratan N-acetylglucosamine 6-O-sulfotransferase (GST-4beta). Bartes, A., Bhakta, S., Hemmerich, S. Biochem. Biophys. Res. Commun. (2001) [Pubmed]
  12. Chromosomal localization and genomic organization for the galactose/ N-acetylgalactosamine/N-acetylglucosamine 6-O-sulfotransferase gene family. Hemmerich, S., Lee, J.K., Bhakta, S., Bistrup, A., Ruddle, N.R., Rosen, S.D. Glycobiology (2001) [Pubmed]
  13. Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. El-Ashry, M.F., Abd El-Aziz, M.M., Wilkins, S., Cheetham, M.E., Wilkie, S.E., Hardcastle, A.J., Halford, S., Bayoumi, A.Y., Ficker, L.A., Tuft, S., Bhattacharya, S.S., Ebenezer, N.D. Invest. Ophthalmol. Vis. Sci. (2002) [Pubmed]
  14. Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. El-Ashry, M.F., Abd El-Aziz, M.M., Shalaby, O., Wilkins, S., Poopalasundaram, S., Cheetham, M., Tuft, S.J., Hardcastle, A.J., Bhattacharya, S.S., Ebenezer, N.D. Am. J. Ophthalmol. (2005) [Pubmed]
 
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