Detection of the dystroglycanopathy protein, fukutin, using a new panel of site-specific monoclonal antibodies.

Abstract

Mutations in the gene encoding fukutin protein cause Fukuyama muscular dystrophy, a severe congenital disorder that occurs mainly in Japan. A major consequence of the mutation is reduced glycosylation of alpha-dystroglycan, which is also a feature of other forms of congenital and limb-girdle muscular dystrophy. Immunodetection of endogenous fukutin in cells and tissues has been difficult and this has hampered progress in understanding fukutin function and disease pathogenesis. Using a new panel of monoclonal antibodies which bind to different defined sites on the fukutin molecule, we now show that fukutin has the predicted size for a protein without extensive glycosylation and is present at the Golgi apparatus at very low levels. These antibodies should enable more rapid future progress in understanding the molecular function of fukutin.

• Authors: Tracy A Lynch, Le Thanh Lam, Nguyen thi Man, Kazuhiro Kobayashi, Tatsushi Toda, Glenn E Morris
• Journal: Biochemical and biophysical research communications (Biochem Biophys Res Commun) Vol. 424 Issue 2 Pg. 354-7 (Jul 27 2012) ISSN: 1090-2104 [Electronic] United States
• PMID: 22771323 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2012 Elsevier Inc. All rights reserved.

Chemical References

• Antibodies, Monoclonal
• FKTN protein, human
• Immunodominant Epitopes
• Membrane Proteins
• Peptide Library

Topics

• Amino Acid Sequence
• Animals
• Antibodies, Monoclonal
• Epitope Mapping
• Glycosylation
• Golgi Apparatus (metabolism)
• HeLa Cells
• Humans
• Hybridomas
• Immunodominant Epitopes (analysis, genetics, immunology)
• Membrane Proteins (analysis, genetics, immunology)
• Mice
• Mice, Inbred BALB C
• Molecular Sequence Data
• Peptide Library
• Walker-Warburg Syndrome (diagnosis, genetics, metabolism)