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PMID:21129441

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Citation

Hu, H, Li, J, Zhang, Z and Yu, M (2011) Pikachurin interaction with dystroglycan is diminished by defective O-mannosyl glycosylation in congenital muscular dystrophy models and rescued by LARGE overexpression. Neurosci. Lett. 489:10-5

Abstract

Congenital muscular dystrophies (CMD) such as muscle-eye-brain disease caused by defective glycosylation of α-dystroglycan (α-DG) exhibit defective photoreceptor synaptic function. Mouse knockouts of dystroglycan and its extracellular matrix binding partner pikachurin recapitulate this phenotype. In this study, pikachurin-α-dystroglycan interactions in several mouse models of CMD were examined by pikachurin overlay experiments. The results show that hypoglycosylation of α-dystroglycan resulted in markedly reduced pikachurin-α-dystroglycan interactions. Expression of pikachurin is abolished at the outer plexiform layer of two mouse models, protein O-mannose N-acetylglucosaminyl transferase 1 (POMGnT1) knockout and Large(myd) mice. Overexpressing LARGE restored this interaction in POMGnT1 knockout cells. These results indicate that pikachurin interactions with α-dystroglycan and its localization at the photoreceptor ribbon synapse require normal glycosylation of α-dystroglycan.

Links

PubMed PMC3018538 Online version:10.1016/j.neulet.2010.11.056

Keywords

Animals; Blotting, Western; Carrier Proteins/metabolism; Disease Models, Animal; Dystroglycans/metabolism; Fluorescent Antibody Technique; Glycosylation; Mice; Mice, Knockout; N-Acetylglucosaminyltransferases/genetics; N-Acetylglucosaminyltransferases/metabolism; Nerve Tissue Proteins/metabolism; Retina/metabolism; Synapses/metabolism; Walker-Warburg Syndrome/genetics; Walker-Warburg Syndrome/metabolism

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:EGFLA

GO:0031012: extracellular matrix

ECO:0000315:

C

Figure 2

complete
CACAO 7886


See also

References

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