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.
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.
^ This article incorporates
text available under the
CC BY 4.0 license. Betts, J Gordon; Desaix, Peter; Johnson, Eddie; Johnson, Jody E; Korol, Oksana; Kruse, Dean; Poe, Brandon; Wise, James; Womble, Mark D; Young, Kelly A (May 14, 2023). Anatomy & Physiology. Houston: OpenStax CNX. 10.3 Muscle Fiber Contraction and Relaxation.
ISBN978-1-947172-04-3.
Buckle VJ, Guenet JL, Simon-Chazottes D, et al. (1990). "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". Hum. Genet. 85 (3): 324–6.
doi:
10.1007/BF00206755.
PMID2203673.
S2CID23466676.
Belkin AM, Burridge K (1995). "Localization of utrophin and aciculin at sites of cell-matrix and cell-cell adhesion in cultured cells". Exp. Cell Res. 221 (1): 132–40.
doi:
10.1006/excr.1995.1360.
PMID7589238.
Keep NH, Norwood FL, Moores CA, et al. (1999). "The 2.0 A structure of the second calponin homology domain from the actin-binding region of the dystrophin homologue utrophin". J. Mol. Biol. 285 (3): 1257–64.
doi:
10.1006/jmbi.1998.2406.
PMID9887274.
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.
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.
^ This article incorporates
text available under the
CC BY 4.0 license. Betts, J Gordon; Desaix, Peter; Johnson, Eddie; Johnson, Jody E; Korol, Oksana; Kruse, Dean; Poe, Brandon; Wise, James; Womble, Mark D; Young, Kelly A (May 14, 2023). Anatomy & Physiology. Houston: OpenStax CNX. 10.3 Muscle Fiber Contraction and Relaxation.
ISBN978-1-947172-04-3.
Buckle VJ, Guenet JL, Simon-Chazottes D, et al. (1990). "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". Hum. Genet. 85 (3): 324–6.
doi:
10.1007/BF00206755.
PMID2203673.
S2CID23466676.
Belkin AM, Burridge K (1995). "Localization of utrophin and aciculin at sites of cell-matrix and cell-cell adhesion in cultured cells". Exp. Cell Res. 221 (1): 132–40.
doi:
10.1006/excr.1995.1360.
PMID7589238.
Keep NH, Norwood FL, Moores CA, et al. (1999). "The 2.0 A structure of the second calponin homology domain from the actin-binding region of the dystrophin homologue utrophin". J. Mol. Biol. 285 (3): 1257–64.
doi:
10.1006/jmbi.1998.2406.
PMID9887274.