F
IPR035436

Dystrophin/utrophin

InterPro entry
Short nameDystrophin/utrophin

Description

Dystrophin anchors the extracellular matrix to the cytoskeleton via F-actin and is a ligand for dystroglycan. It is a component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilising the sarcolemma
[5, 4]
.

Mutations in the dystrophin gene cause Duchenne muscular dystrophy (DMD), which is the most common form of muscular dystrophy and a sex-linked recessive disorder
[6]
.

Utrophin (dystrophin-related protein 1) is normally expressed on the sarcolemma of developing and regenerating muscle fibres
[3, 2]
. It is ultimately replaced by dystrophin in the sarcolemma of normal maturing fibres and in normal conditions it is confined to the neuromuscular and myotendinous junctions. However, in the absence of dystrophin, utrophin is expressed on the sarcolemma of dystrophic fibres acting to mitigate necrosis
[1]
.

References

1.Expression of full-length utrophin prevents muscular dystrophy in mdx mice. Tinsley J, Deconinck N, Fisher R, Kahn D, Phelps S, Gillis JM, Davies K. Nat. Med. 4, 1441-4, (1998). View articlePMID: 9846586

2.The dystrophin-related protein, utrophin, is expressed on the sarcolemma of regenerating human skeletal muscle fibres in dystrophies and inflammatory myopathies. Helliwell TR, Man NT, Morris GE, Davies KE. Neuromuscul. Disord. 2, 177-84, (1992). View articlePMID: 1483043

3.Dystrophin and dystrophin-related protein (utrophin) distribution in normal and dystrophin-deficient skeletal muscles. Pons F, Nicholson LV, Robert A, Voit T, Leger JJ. Neuromuscul. Disord. 3, 507-14, (1993). View articlePMID: 8186702

4.Function and genetics of dystrophin and dystrophin-related proteins in muscle. Blake DJ, Weir A, Newey SE, Davies KE. Physiol. Rev. 82, 291-329, (2002). PMID: 11917091

5.Role of dystrophin and utrophin for assembly and function of the dystrophin glycoprotein complex in non-muscle tissue. Haenggi T, Fritschy JM. Cell. Mol. Life Sci. 63, 1614-31, (2006). View articlePMID: 16710609

6.Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Hoffman EP, Brown RH Jr, Kunkel LM. Cell 51, 919-28, (1987). View articlePMID: 3319190

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