Glycobiology of α-dystroglycan and muscular dystrophy

被引：109

作者：

Endo, Tamao ^{[1
,2
]}

机构：

[1] Tokyo Metropolitan Geriatr Hosp, Tokyo 1730015, Japan

[2] Inst Gerontol, Tokyo 1730015, Japan

来源：

JOURNAL OF BIOCHEMISTRY | 2015年 / 157卷 / 01期

关键词：

dystroglycan; glycan biosynthesis; glycosyltransferase; muscular dystrophy; O-mannosyl glycan; WALKER-WARBURG-SYNDROME; PROTEIN O-MANNOSYLATION; GDP-MANNOSE PYROPHOSPHORYLASE; RABBIT SKELETAL-MUSCLE; LAMININ-BINDING; DEFECTIVE GLYCOSYLATION; ABNORMAL GLYCOSYLATION; GENE POMT1; MUTATIONS; GLYCANS;

D O I：

10.1093/jb/mvu066

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Most proteins are modified by glycans, which can modulate the biological properties and functions of glycoproteins. The major glycans can be classified into N-glycans and O-glycans according to their glycan-peptide linkage. This review will provide an overview of the O-mannosyl glycans, one subtype of O-glycans. Originally, O-mannosyl glycan was only known to be present on a limited number of glycoproteins, especially alpha-dystroglycan (alpha-DG). However, once a clear relationship was established between O-mannosyl glycan and the pathological mechanisms of some congenital muscular dystrophies in humans, research on the biochemistry and pathology of O-mannosyl glycans has been expanding. Because alpha-DG glycosylation is defective in congenital muscular dystrophies, which also feature abnormal neuronal migration, these disorders are collectively called alpha-dystroglycanopathies. In this article, I will describe the structure, biosynthesis and pathology of O-mannosyl glycans.

引用

页码：1 / 12

页数：12

共 81 条

[41] Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan [J].

Longman, C ;

Brockington, M ;

Torelli, S ;

Jimenez-Mallebrera, C ;

Kennedy, C ;

Khalil, N ;

Feng, L ;

Saran, RK ;

Voit, T ;

Merlini, L ;

Sewry, CA ;

Brown, SC ;

Muntoni, F .

HUMAN MOLECULAR GENETICS, 2003, 12 (21) :2853-2861

[42] Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3 [J].

Maeda, Y ;

Tanaka, S ;

Hino, J ;

Kangawa, K ;

Kinoshita, T .

EMBO JOURNAL, 2000, 19 (11) :2475-2482

[43] Demonstration of mammalian protein O-mannosyltransferase activity:: Coexpression of POMT1 and POMT2 required for enzymatic activity [J].

Manya, H ;

Chiba, A ;

Yoshida, A ;

Wang, XH ;

Chiba, Y ;

Jigami, Y ;

Margolis, RU ;

Endo, T .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2004, 101 (02) :500-505

[44] Protein O-mannosyltransferase activities in lymphoblasts from patients with α-dystroglycanopathies [J].

Manya, Hiroshi ;

Bouchet, Celine ;

Yanagisawa, Akiko ;

Vuillaumier-Barrot, Sandrine ;

Quijano-Roy, Susana ;

Suzuki, Yasushi ;

Maugenre, Svetlana ;

Richard, Pascale ;

Inazu, Toshiyuki ;

Merlini, Luciano ;

Romero, Norma B. ;

Leturcq, France ;

Bezier, Isabelle ;

Topaloglu, Haluk ;

Estournet, Brigitte ;

Seta, Nathalie ;

Endo, Tamao ;

Guicheney, Pascale .

NEUROMUSCULAR DISORDERS, 2008, 18 (01) :45-51

[45] Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2 [J].

Manya, Hiroshi ;

Akasaka-Manya, Keiko ;

Nakajima, Ai ;

Kawakita, Masao ;

Endo, Tamao .

JOURNAL OF BIOCHEMISTRY, 2010, 147 (03) :337-344

[46] Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome [J].

Manzini, M. Chiara ;

Tambunan, Dimira E. ;

Hill, R. Sean ;

Yu, Tim W. ;

Maynard, Thomas M. ;

Heinzen, Erin L. ;

Shianna, Kevin V. ;

Stevens, Christine R. ;

Partlow, Jennifer N. ;

Barry, Brenda J. ;

Rodriguez, Jacqueline ;

Gupta, Vandana A. ;

Al-Qudah, Abdel-Karim ;

Eyaid, Wafaa M. ;

Friedman, Jan M. ;

Salih, Mustafa A. ;

Clark, Robin ;

Moroni, Isabella ;

Mora, Marina ;

Beggs, Alan H. ;

Gabriel, Stacey B. ;

Walsh, Christopher A. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 91 (03) :541-547

[47] Characterization of a novel modification on IgG2 light chain - Evidence for the presence of O-linked mannosylation [J].

Martinez, Theresa ;

Pace, Danielle ;

Brady, Lowell ;

Gerhart, Mary ;

Balland, Alain .

JOURNAL OF CHROMATOGRAPHY A, 2007, 1156 (1-2) :183-187

[48] Reduced proliferative activity of primary POMGnT1-null myoblasts in vitro [J].

Miyagoe-Suzuki, Yuko ;

Masubuchi, Nami ;

Miyamoto, Kaori ;

Wada, Michiko R. ;

Yuasa, Shigeki ;

Saito, Fumiaki ;

Matsumura, Kiichiro ;

Kanesaki, Hironori ;

Kudo, Akira ;

Manya, Hiroshi ;

Endo, Tamao ;

Takeda, Shin'ichi .

MECHANISMS OF DEVELOPMENT, 2009, 126 (3-4) :107-116

[49] Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy [J].

Moore, SA ;

Saito, F ;

Chen, JG ;

Michele, DE ;

Henry, MD ;

Messing, A ;

Cohn, RD ;

Ross-Barta, SE ;

Westra, S ;

Williamson, RA ;

Hoshi, T ;

Campbell, KP .

NATURE, 2002, 418 (6896) :422-425

[50] Structural and biochemical characterization of O-mannose-linked human natural killer-1 glycan expressed on phosphacan in developing mouse brains [J].

Morise, Jyoji ;

Kizuka, Yasuhiko ;

Yabuno, Keiko ;

Tonoyama, Yasuhiro ;

Hashii, Noritaka ;

Kawasaki, Nana ;

Manya, Hiroshi ;

Miyagoe-Suzuki, Yuko ;

Takeda, Shin'ichi ;

Endo, Tamao ;

Maeda, Nobuaki ;

Takematsu, Hiromu ;

Oka, Shogo .

GLYCOBIOLOGY, 2014, 24 (03) :314-324

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