Dystroglycan: Difference between revisions
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'''Dystroglycan''' is one of the [[dystrophin]]-associated [[glycoproteins]], which is encoded by a 5.5 kb transcript in Homo sapiens by [[chromosome 3]]. There are two [[exons]] that are separated by a large [[intron]]. The spliced exons codes for a protein product is finally cleaved into two non-covalently associated subunits, [alpha] (N-terminal) and [beta] (C-terminal). In skeletal muscle the dystroglycan complex works as a transmembrane linkage between the extracellular matrix and the cytoskeleton. [alpha]-dystroglycan is extracellular and binds to merosin [[[alpha]-2 laminin]] in the basement membrane, while [beta]-dystroglycan is a [[transmembrane]] protein and binds to dystrophin, which is a large rod-like [[cytoskeletal]] protein, absent in [[Duchenne muscular dystrophy]] patients. Dystrophin binds to intracellular [[actin]] cables. In this way, the dystroglycan complex, which links the extracellular matrix to the intracellular actin cables, is thought to provide structural integrity in muscle tissues. The dystroglycan complex is also known to serve as an [[agrin]] receptor in muscle, where it may regulate agrin-induced [[acetylcholine]] receptor clustering at the neuromuscular junction. There is also evidence which suggests the function of dystroglycan as a part of the signal transduction pathway because it is shown that [[Grb2]], a mediator of the [[Ras]]-related signal pathway, can interact with the cytoplasmic domain of dystroglycan. In general, aberrant expression of dystrophin-associated protein complex underlies the pathogenesis of [[Duchenne muscular dystrophy]], [[Becker muscular dystrophy]] and severe childhood autosomal recessive muscular dystrophy. Interestingly, no genetic disease has been described for either [alpha]- or [beta]-dystroglycan. Dystroglycan is widely distributed in non-muscle tissues as well as in muscle tissues. During epithelial morphogenesis of kidney, the dystroglycan complex is shown to act as a receptor for the basement membrane. Dystroglycan expression in Mus musculus brain and neural retina has also been reported. However, the physiological role of dystroglycan in non-muscle tissues has remained unclear | '''Dystroglycan''' is one of the [[dystrophin]]-associated [[glycoproteins]], which is encoded by a 5.5 kb transcript in Homo sapiens by [[chromosome 3]]. There are two [[exons]] that are separated by a large [[intron]]. The spliced exons codes for a protein product is finally cleaved into two non-covalently associated subunits, [alpha] (N-terminal) and [beta] (C-terminal). In skeletal muscle the dystroglycan complex works as a transmembrane linkage between the extracellular matrix and the cytoskeleton. [alpha]-dystroglycan is extracellular and binds to merosin [[[alpha]-2 laminin]] in the basement membrane, while [beta]-dystroglycan is a [[transmembrane]] protein and binds to dystrophin, which is a large rod-like [[cytoskeletal]] protein, absent in [[Duchenne muscular dystrophy]] patients. Dystrophin binds to intracellular [[actin]] cables. In this way, the dystroglycan complex, which links the extracellular matrix to the intracellular actin cables, is thought to provide structural integrity in muscle tissues. The dystroglycan complex is also known to serve as an [[agrin]] receptor in muscle, where it may regulate agrin-induced [[acetylcholine]] receptor clustering at the neuromuscular junction. There is also evidence which suggests the function of dystroglycan as a part of the signal transduction pathway because it is shown that [[Grb2]], a mediator of the [[Ras]]-related signal pathway, can interact with the cytoplasmic domain of dystroglycan. In general, aberrant expression of dystrophin-associated protein complex underlies the pathogenesis of [[Duchenne muscular dystrophy]], [[Becker muscular dystrophy]] and severe childhood autosomal recessive muscular dystrophy. Interestingly, no genetic disease has been described for either [alpha]- or [beta]-dystroglycan. Dystroglycan is widely distributed in non-muscle tissues as well as in muscle tissues. During epithelial morphogenesis of kidney, the dystroglycan complex is shown to act as a receptor for the basement membrane. Dystroglycan expression in Mus musculus brain and neural retina has also been reported. However, the physiological role of dystroglycan in non-muscle tissues has remained unclear | ||
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{{WS}} | {{WS}} | ||
Revision as of 02:02, 9 August 2012
| dystroglycan 1 (dystrophin-associated glycoprotein 1) | |
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| Identifiers | |
| Symbol | DAG1 |
| Entrez | 1605 |
| HUGO | 2666 |
| OMIM | 128239 |
| RefSeq | NM_004393 |
| UniProt | Q14118 |
| Other data | |
| Locus | Chr. 3 p21 |
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WikiDoc Resources for Dystroglycan |
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Most recent articles on Dystroglycan Most cited articles on Dystroglycan |
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Powerpoint slides on Dystroglycan |
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Evidence Based Medicine |
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Ongoing Trials on Dystroglycan at Clinical Trials.gov Clinical Trials on Dystroglycan at Google
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US National Guidelines Clearinghouse on Dystroglycan
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Patient Resources / Community |
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Patient resources on Dystroglycan Discussion groups on Dystroglycan Patient Handouts on Dystroglycan Directions to Hospitals Treating Dystroglycan Risk calculators and risk factors for Dystroglycan
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Causes & Risk Factors for Dystroglycan |
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Experimental / Informatics |
Dystroglycan is one of the dystrophin-associated glycoproteins, which is encoded by a 5.5 kb transcript in Homo sapiens by chromosome 3. There are two exons that are separated by a large intron. The spliced exons codes for a protein product is finally cleaved into two non-covalently associated subunits, [alpha] (N-terminal) and [beta] (C-terminal). In skeletal muscle the dystroglycan complex works as a transmembrane linkage between the extracellular matrix and the cytoskeleton. [alpha]-dystroglycan is extracellular and binds to merosin [[[alpha]-2 laminin]] in the basement membrane, while [beta]-dystroglycan is a transmembrane protein and binds to dystrophin, which is a large rod-like cytoskeletal protein, absent in Duchenne muscular dystrophy patients. Dystrophin binds to intracellular actin cables. In this way, the dystroglycan complex, which links the extracellular matrix to the intracellular actin cables, is thought to provide structural integrity in muscle tissues. The dystroglycan complex is also known to serve as an agrin receptor in muscle, where it may regulate agrin-induced acetylcholine receptor clustering at the neuromuscular junction. There is also evidence which suggests the function of dystroglycan as a part of the signal transduction pathway because it is shown that Grb2, a mediator of the Ras-related signal pathway, can interact with the cytoplasmic domain of dystroglycan. In general, aberrant expression of dystrophin-associated protein complex underlies the pathogenesis of Duchenne muscular dystrophy, Becker muscular dystrophy and severe childhood autosomal recessive muscular dystrophy. Interestingly, no genetic disease has been described for either [alpha]- or [beta]-dystroglycan. Dystroglycan is widely distributed in non-muscle tissues as well as in muscle tissues. During epithelial morphogenesis of kidney, the dystroglycan complex is shown to act as a receptor for the basement membrane. Dystroglycan expression in Mus musculus brain and neural retina has also been reported. However, the physiological role of dystroglycan in non-muscle tissues has remained unclear