Dystroglycan

Function

Dystroglycan (DG) is a central component of the dystrophin-glycoprotein complex which plays a critical role in a variety of muscular dystrophies^[1]. α- and β-dystroglycan constitute a membrane-spanning complex that connects the extracellular matrix to the cytoskeleton^[2]. DG is a cell-surface laminin receptor which is expressed in cells contacting basement membrane in developing and adult tissue^[3].

Disease

Muscle-eye-brain disease patients exhibit deficiency in α-DG^[4]. There is a relationship between aberrant glycosylation of α-DG and congenital muscular dystrophies^[5].

Relevance

Structural highlights

DG is encoded by a single gene and is cleaved into α- and β-DG posttranslationally.

3D Structures of α-dystroglycan3D Structures of α-dystroglycan

Updated on 17-January-2018

1u2c – mDG – mouse
5n30, 4wiq, 5n4h – mDG N-terminal (mutant)
5llk – hDG – human
1eg3 – hDG WW domain
1eg4 – hDG WW domain + β-DG peptide

ReferencesReferences

↑ Williamson RA, Henry MD, Daniels KJ, Hrstka RF, Lee JC, Sunada Y, Ibraghimov-Beskrovnaya O, Campbell KP. Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice. Hum Mol Genet. 1997 Jun;6(6):831-41. PMID:9175728
↑ Barresi R, Campbell KP. Dystroglycan: from biosynthesis to pathogenesis of human disease. J Cell Sci. 2006 Jan 15;119(Pt 2):199-207. doi: 10.1242/jcs.02814. PMID:16410545 doi:http://dx.doi.org/10.1242/jcs.02814
↑ Henry MD, Campbell KP. A role for dystroglycan in basement membrane assembly. Cell. 1998 Dec 11;95(6):859-70. PMID:9865703
↑ Kano H, Kobayashi K, Herrmann R, Tachikawa M, Manya H, Nishino I, Nonaka I, Straub V, Talim B, Voit T, Topaloglu H, Endo T, Yoshikawa H, Toda T. Deficiency of alpha-dystroglycan in muscle-eye-brain disease. Biochem Biophys Res Commun. 2002 Mar 15;291(5):1283-6. doi:, 10.1006/bbrc.2002.6608. PMID:11883957 doi:http://dx.doi.org/10.1006/bbrc.2002.6608
↑ Endo T. Aberrant glycosylation of alpha-dystroglycan and congenital muscular dystrophies. Acta Myol. 2005 Oct;24(2):64-9. PMID:16550917

Proteopedia Page Contributors and Editors (what is this?)Proteopedia Page Contributors and Editors (what is this?)

Michal Harel, Joel L. Sussman

[1] Williamson RA, Henry MD, Daniels KJ, Hrstka RF, Lee JC, Sunada Y, Ibraghimov-Beskrovnaya O, Campbell KP. Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice. Hum Mol Genet. 1997 Jun;6(6):831-41. PMID:9175728

[2] Barresi R, Campbell KP. Dystroglycan: from biosynthesis to pathogenesis of human disease. J Cell Sci. 2006 Jan 15;119(Pt 2):199-207. doi: 10.1242/jcs.02814. PMID:16410545 doi:http://dx.doi.org/10.1242/jcs.02814

[3] Henry MD, Campbell KP. A role for dystroglycan in basement membrane assembly. Cell. 1998 Dec 11;95(6):859-70. PMID:9865703

[4] Kano H, Kobayashi K, Herrmann R, Tachikawa M, Manya H, Nishino I, Nonaka I, Straub V, Talim B, Voit T, Topaloglu H, Endo T, Yoshikawa H, Toda T. Deficiency of alpha-dystroglycan in muscle-eye-brain disease. Biochem Biophys Res Commun. 2002 Mar 15;291(5):1283-6. doi:, 10.1006/bbrc.2002.6608. PMID:11883957 doi:http://dx.doi.org/10.1006/bbrc.2002.6608

[5] Endo T. Aberrant glycosylation of alpha-dystroglycan and congenital muscular dystrophies. Acta Myol. 2005 Oct;24(2):64-9. PMID:16550917

[1]

[2]

[3]

[4]

[5]