Prof. Dame Kay Davies discusses utrophin research

Channel: MuscularDystrophy   |   2011/08/09
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Prof. Dame Kay Davies discusses utrophin research
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RESULTS [24 .. 74]
From Wikipedia, the free encyclopedia
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Utrophin

PDB rendering based on 1bhd.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols UTRN ; DMDL; DRP; DRP1
External IDs OMIM128240 MGI104631 HomoloGene21398 GeneCards: UTRN Gene
RNA expression pattern
PBB GE UTRN 213023 at tn.png
PBB GE UTRN 213022 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 7402 22288
Ensembl ENSG00000152818 ENSMUSG00000019820
UniProt P46939 E9Q6R7
RefSeq (mRNA) NM_007124 NM_011682
RefSeq (protein) NP_009055 NP_035812
Location (UCSC) Chr 6:
144.61 – 145.17 Mb
Chr 10:
12.38 – 12.86 Mb
PubMed search [1] [2]

Utrophin is a protein that in humans is encoded by the UTRN gene.[1][2]

The protein encoded by this gene is a component of the cytoskeleton. Utrophin was found during research into Duchenne's muscular dystrophy. The name is a contraction for ubiquitous dystrophin. The 900 kb gene for utrophin is found on the long arm of human chromosome 6. Utrophin was discovered due to its homology with dystrophin. It was found by screening a peptide containing the C-terminal domain of dystrophin against cDNA libraries. The homology varies over its full length from less than 30% in regions of the central rod structural domain, to 85% (identity 73%) for the actin binding domain.

The tertiary structure of utrophin contains a C-terminus that consists of protein–protein interaction motifs that interact with dystroglycan, a central rod region consisting of a triple coiled-coil repeat, and an actin-binding N-terminus.

In normal muscle cells, utrophin is located at the neuromuscular synapse and myotendinous junctions. It is necessary for normal membrane maintenance, and for the clustering of the acetylcholine receptor. In adult humans, utrophin RNA is found ubiquitously, as the name implies, being abundant in the brain, kidney, liver, lung, muscle, spleen and stomach. In the human fetus during muscle differentiation, utrophin is found at the sarcolemma. It disappears when the fetus begins to express dystrophin.

Utrophin expression is dramatically increased in patients with Duchenne's muscular dystrophy (and female carriers), both in those muscle fibers lacking dystrophin and in rare, revertant fibers that express dystrophin.

No reports have yet associated mutation in the utrophin gene with disease, but it does not seem to play a critical role in development, since mice without utrophin develop normally.

References[edit]

  1. ^ Nguyen TM, Le TT, Blake DJ, Davies KE, Morris GE (Dec 1992). "Utrophin, the autosomal homologue of dystrophin, is widely-expressed and membrane-associated in cultured cell lines". FEBS Lett 313 (1): 19–22. doi:10.1016/0014-5793(92)81174-K. PMID 1426262. 
  2. ^ "Entrez Gene: UTRN utrophin". 

Further reading[edit]

See also[edit]

External links[edit]

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