Utrophin


Utrophin

Utrophin, also known as UTRN, is a human gene.cite web | title = Entrez Gene: UTRN utrophin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7402| accessdate = ]

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

Further reading

PBB_Further_reading
citations =
*cite journal | author=Haenggi T, Fritschy JM |title=Role of dystrophin and utrophin for assembly and function of the dystrophin glycoprotein complex in non-muscle tissue. |journal=Cell. Mol. Life Sci. |volume=63 |issue= 14 |pages= 1614–31 |year= 2006 |pmid= 16710609 |doi= 10.1007/s00018-005-5461-0
*cite journal | author=Khurana TS, Watkins SC, Kunkel LM |title=The subcellular distribution of chromosome 6-encoded dystrophin-related protein in the brain. |journal=J. Cell Biol. |volume=119 |issue= 2 |pages= 357–66 |year= 1992 |pmid= 1400579 |doi=
*cite journal | author=Nguyen TM, Le TT, Blake DJ, "et al." |title=Utrophin, the autosomal homologue of dystrophin, is widely-expressed and membrane-associated in cultured cell lines. |journal=FEBS Lett. |volume=313 |issue= 1 |pages= 19–22 |year= 1992 |pmid= 1426262 |doi=
*cite journal | author=Tinsley JM, Blake DJ, Roche A, "et al." |title=Primary structure of dystrophin-related protein. |journal=Nature |volume=360 |issue= 6404 |pages= 591–3 |year= 1993 |pmid= 1461283 |doi= 10.1038/360591a0
*cite journal | author=Love DR, Morris GE, Ellis JM, "et al." |title=Tissue distribution of the dystrophin-related gene product and expression in the mdx and dy mouse. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=88 |issue= 8 |pages= 3243–7 |year= 1991 |pmid= 2014247 |doi=
*cite journal | author=Buckle VJ, Guenet JL, Simon-Chazottes D, "et al." |title=Localisation of a dystrophin-related autosomal gene to 6q24 in man, and to mouse chromosome 10 in the region of the dystrophia muscularis (dy) locus. |journal=Hum. Genet. |volume=85 |issue= 3 |pages= 324–6 |year= 1990 |pmid= 2203673 |doi=
*cite journal | author=Love DR, Hill DF, Dickson G, "et al." |title=An autosomal transcript in skeletal muscle with homology to dystrophin. |journal=Nature |volume=339 |issue= 6219 |pages= 55–8 |year= 1989 |pmid= 2541343 |doi= 10.1038/339055a0
*cite journal | author=Belkin AM, Burridge K |title=Localization of utrophin and aciculin at sites of cell-matrix and cell-cell adhesion in cultured cells. |journal=Exp. Cell Res. |volume=221 |issue= 1 |pages= 132–40 |year= 1995 |pmid= 7589238 |doi= 10.1006/excr.1995.1360
*cite journal | author=Ahn AH, Kunkel LM |title=Syntrophin binds to an alternatively spliced exon of dystrophin. |journal=J. Cell Biol. |volume=128 |issue= 3 |pages= 363–71 |year= 1995 |pmid= 7844150 |doi=
*cite journal | author=Belkin AM, Burridge K |title=Association of aciculin with dystrophin and utrophin. |journal=J. Biol. Chem. |volume=270 |issue= 11 |pages= 6328–37 |year= 1995 |pmid= 7890770 |doi=
*cite journal | author=Pearce M, Blake DJ, Tinsley JM, "et al." |title=The utrophin and dystrophin genes share similarities in genomic structure. |journal=Hum. Mol. Genet. |volume=2 |issue= 11 |pages= 1765–72 |year= 1994 |pmid= 8281135 |doi=
*cite journal | author=Ahn AH, Freener CA, Gussoni E, "et al." |title=The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives. |journal=J. Biol. Chem. |volume=271 |issue= 5 |pages= 2724–30 |year= 1996 |pmid= 8576247 |doi=
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Guo WX, Nichol M, Merlie JP |title=Cloning and expression of full length mouse utrophin: the differential association of utrophin and dystrophin with AChR clusters. |journal=FEBS Lett. |volume=398 |issue= 2-3 |pages= 259–64 |year= 1997 |pmid= 8977119 |doi=
*cite journal | author=Deconinck AE, Rafael JA, Skinner JA, "et al." |title=Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy. |journal=Cell |volume=90 |issue= 4 |pages= 717–27 |year= 1997 |pmid= 9288751 |doi=
*cite journal | author=Nawrotzki R, Loh NY, Ruegg MA, "et al." |title=Characterisation of alpha-dystrobrevin in muscle. |journal=J. Cell. Sci. |volume=111 ( Pt 17) |issue= |pages= 2595–605 |year= 1999 |pmid= 9701558 |doi=
*cite journal | author=Keep NH, Norwood FL, Moores CA, "et al." |title=The 2.0 A structure of the second calponin homology domain from the actin-binding region of the dystrophin homologue utrophin. |journal=J. Mol. Biol. |volume=285 |issue= 3 |pages= 1257–64 |year= 1999 |pmid= 9887274 |doi= 10.1006/jmbi.1998.2406
*cite journal | author=Wilson J, Putt W, Jimenez C, Edwards YH |title=Up71 and up140, two novel transcripts of utrophin that are homologues of short forms of dystrophin. |journal=Hum. Mol. Genet. |volume=8 |issue= 7 |pages= 1271–8 |year= 1999 |pmid= 10369873 |doi=
*cite journal | author=Blake DJ, Hawkes R, Benson MA, Beesley PW |title=Different dystrophin-like complexes are expressed in neurons and glia. |journal=J. Cell Biol. |volume=147 |issue= 3 |pages= 645–58 |year= 1999 |pmid= 10545507 |doi=
*cite journal | author=Keep NH, Winder SJ, Moores CA, "et al." |title=Crystal structure of the actin-binding region of utrophin reveals a head-to-tail dimer. |journal=Structure |volume=7 |issue= 12 |pages= 1539–46 |year= 2000 |pmid= 10647184 |doi=

ee also

* dystrophin

External links

*

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = no
update_citations = yes


Wikimedia Foundation. 2010.

Look at other dictionaries:

  • utrophin — (= dystrophin associated protein) Autosomal homologue of dystrophin (395kD) localized near the neuromuscular junction in adult muscle, though in the absence of dystrophin (ie. in Duchenne muscular dystrophy) utrophin is also located on the… …   Dictionary of molecular biology

  • utrophin — noun A cytoskeleton protein homologous with dystrophin …   Wiktionary

  • utrophin — u·tro·phin (uґtrə fin) a homologue of dystrophin with similar structure and function; it contains an actin binding N terminus and a C terminus that interacts with dystroglycan protein components, links the actin cytoskeleton to the… …   Medical dictionary

  • PGM5 — Phosphoglucomutase 5, also known as PGM5, is a human gene.cite web | title = Entrez Gene: PGM5 phosphoglucomutase 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=5239| accessdate = ] PBB Summary section… …   Wikipedia

  • Duchenne muscular dystrophy — Classification and external resources Histopathology of gastrocnemius muscle from patient who died of pseudohypertrophic muscular dystrophy, Duchenne type. Cross section of muscle shows extensive replacement of muscle fibers by adipose cells …   Wikipedia

  • Dystroglycan — 1 (dystrophin associated glycoprotein 1) PDB rendering based on 1u2c …   Wikipedia

  • Actin-binding protein — Actin binding proteins (also known as ABP) are proteins that bind to actin. This may mean ability to bind actin monomers, or polymers, or both.Many actin binding proteins, including α actinin, β spectrin, dystrophin, utrophin and fimbrin, do this …   Wikipedia

  • SNTA1 — Syntrophin, alpha 1 (dystrophin associated protein A1, 59kDa, acidic component), also known as SNTA1, is a human gene.cite web | title = Entrez Gene: SNTA1 syntrophin, alpha 1 (dystrophin associated protein A1, 59kDa, acidic component)| url =… …   Wikipedia

  • SNTB2 — Syntrophin, beta 2 (dystrophin associated protein A1, 59kDa, basic component 2), also known as SNTB2, is a human gene.cite web | title = Entrez Gene: SNTB2 syntrophin, beta 2 (dystrophin associated protein A1, 59kDa, basic component 2)| url =… …   Wikipedia

  • Microtubule — Space filling model of a microtubule segment derived from cryo electron microscopy. The protofilaments are seen running along the axis of the segment. The microtubule (+) end is towards the top of the image.[1] Microtubules are a component of the …   Wikipedia


Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”

We are using cookies for the best presentation of our site. Continuing to use this site, you agree with this.