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Chaperone mutation in Tn syndrome

Author

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  • Tongzhong Ju

    (Oklahoma Center for Medical Glycobiology, University of Oklahoma Health Sciences Center)

  • Richard D. Cummings

    (Oklahoma Center for Medical Glycobiology, University of Oklahoma Health Sciences Center)

Abstract

Tn syndrome is a rare autoimmune disease in which subpopulations of blood cells in all lineages carry an incompletely glycosylated membrane glycoprotein, known as the Tn antigen. This truncated antigen has the sugar N-acetylgalactosamine α-linked to either a serine or threonine amino-acid residue1,2, whereas the correct T antigen has an additional terminal galactose; the defect may be due to a malfunction of the glycosylating enzyme T-synthase3,4. Here we show that Tn syndrome is associated with a somatic mutation in Cosmc, a gene on the X chromosome that encodes a molecular ‘chaperone’ that is required for the proper folding and hence full activity of T-synthase5. The production of the autoimmune Tn antigen by a glycosyltransferase enzyme rendered defective by a disabled chaperone may have implications for other Tn-related disorders such as IgA nephropathy, a condition that can result in renal failure.

Suggested Citation

  • Tongzhong Ju & Richard D. Cummings, 2005. "Chaperone mutation in Tn syndrome," Nature, Nature, vol. 437(7063), pages 1252-1252, October.
    • Handle: RePEc:nat:nature:v:437:y:2005:i:7063:d:10.1038_4371252a
    DOI: 10.1038/4371252a
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    Cited by:

    1. Diana Chang & Feng Gao & Andrea Slavney & Li Ma & Yedael Y Waldman & Aaron J Sams & Paul Billing-Ross & Aviv Madar & Richard Spritz & Alon Keinan, 2014. "Accounting for eXentricities: Analysis of the X Chromosome in GWAS Reveals X-Linked Genes Implicated in Autoimmune Diseases," PLOS ONE, Public Library of Science, vol. 9(12), pages 1-31, December.

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