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
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
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页码:1 / 12
页数:12
相关论文
共 81 条
[1]   Receptor Tyrosine Phosphatase β(RPTPβ) Activity and Signaling Are Attenuated by Glycosylation and Subsequent Cell Surface Galectin-1 Binding [J].
Abbott, Karen L. ;
Matthews, Russell T. ;
Pierce, Michael .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2008, 283 (48) :33026-33035
[2]   Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation [J].
Akasaka-Manya, K ;
Manya, H ;
Endo, T .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2004, 325 (01) :75-79
[3]   Structure-function analysis of human protein O-linked mannose β1,2-N-acetylglucosaminyltransferase 1, POMGnT1 [J].
Akasaka-Manya, K ;
Manya, H ;
Kobayashi, K ;
Toda, T ;
Endo, T .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2004, 320 (01) :39-44
[4]   Effects of length and amino acid sequence of O-mannosyl peptides on substrate specificity of protein O-linked mannose β1,2-N-acetylglucosaminyltransferase 1 (POMGnT1) [J].
Akasaka-Manya, Keiko ;
Manya, Hiroshi ;
Mizuno, Mamoru ;
Inazu, Toshiyuki ;
Endo, Tamao .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2011, 410 (03) :632-636
[5]   LARGE2 generates the same xylose- and glucuronic acid-containing glycan structures as LARGE [J].
Ashikov, Angel ;
Buettner, Falk F. R. ;
Tiemann, Birgit ;
Gerardy-Schahn, Rita ;
Bakker, Hans .
GLYCOBIOLOGY, 2013, 23 (03) :303-309
[6]   Tumor suppressor function of laminin-binding α-dystroglycan requires a distinct β3-N-acetylglucosaminyltransferase [J].
Bao, Xingfeng ;
Kobayashi, Motohiro ;
Hatakeyama, Shingo ;
Angata, Kiyohiko ;
Gullberg, Donald ;
Nakayama, Jun ;
Fukuda, Michiko N. ;
Fukuda, Minoru .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2009, 106 (29) :12109-12114
[7]   DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy [J].
Barone, Rita ;
Aiello, Chiara ;
Race, Valerie ;
Morava, Eva ;
Foulquier, Francois ;
Riemersma, Moniek ;
Passarelli, Chiara ;
Concolino, Daniela ;
Carella, Massimo ;
Santorelli, Filippo ;
Vleugels, Wendy ;
Mercuri, Eugenio ;
Garozzo, Domenico ;
Sturiale, Luisa ;
Messina, Sonia ;
Jaeken, Jaak ;
Fiumara, Agata ;
Wevers, Ron A. ;
Bertini, Enrico ;
Matthijs, Gert ;
Lefeber, Dirk J. .
ANNALS OF NEUROLOGY, 2012, 72 (04) :550-558
[8]   Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome [J].
Beltran-Valero de Bernabé, D ;
Currier, S ;
Steinbrecher, A ;
Celli, J ;
van Beusekom, E ;
van der Zwaag, B ;
Kayserili, H ;
Merlini, L ;
Chitayat, D ;
Dobyns, WB ;
Cormand, B ;
Lehesjoki, AE ;
Cruces, J ;
Voit, T ;
Walsh, CA ;
van Bokhoven, H ;
Brunner, HG .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (05) :1033-1043
[9]   O-glycosylation pattern of CD24 from mouse brain [J].
Bleckmann, Christina ;
Geyer, Hildegard ;
Lieberoth, Annika ;
Splittstoesser, Frauke ;
Liu, Yan ;
Feizi, Ten ;
Schachner, Melitta ;
Kleene, Ralf ;
Reinhold, Vernon ;
Geyer, Rudolf .
BIOLOGICAL CHEMISTRY, 2009, 390 (07) :627-645
[10]   Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan [J].
Brockington, M ;
Blake, DJ ;
Prandini, P ;
Brown, SC ;
Torelli, S ;
Benson, MA ;
Ponting, CP ;
Estournet, B ;
Romero, NB ;
Mercuri, E ;
Voit, T ;
Sewry, CA ;
Guicheney, P ;
Muntoni, F .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) :1198-1209