Primary structure of dystrophin-related protein - PubMed (original) (raw)
Comparative Study
. 1992 Dec 10;360(6404):591-3.
doi: 10.1038/360591a0.
Affiliations
- PMID: 1461283
- DOI: 10.1038/360591a0
Comparative Study
Primary structure of dystrophin-related protein
J M Tinsley et al. Nature. 1992.
Abstract
Dystrophin-related protein (DRP or 'utrophin') is localized in normal adult muscle primarily at the neuromuscular junction. In the absence of dystrophin in Duchenne muscular dystrophy (DMD) patients, DRP is also present in the sarcolemma. DRP is expressed in fetal and regenerating muscle and may play a similar role to dystrophin in early development, although it remains to be determined whether DRP can functionally replace dystrophin in adult tissue. Previously we described a 3.5-kilobase complementary DNA clone that exhibits 80 per cent homology to the C-terminal domain of dystrophin. This sequence identifies a 13-kilobase transcript that maps to human chromosome 6 (refs 2, 11). Antibodies raised against the gene product identify a polypeptide with a relative molecular mass of about 400K in all tissues examined. To investigate the relationship between DRP and dystrophin in more detail, we have cloned and sequenced the whole DRP cDNA. Homology between DRP and dystrophin extends over their entire length, suggesting that they derive from a common ancestral gene. Comparative analysis of primary sequences highlights regions of functional importance, including those that may mediate the localization of DRP and dystrophin in the muscle cell.
Similar articles
- Characterization of DRP2, a novel human dystrophin homologue.
Roberts RG, Freeman TC, Kendall E, Vetrie DL, Dixon AK, Shaw-Smith C, Bone Q, Bobrow M. Roberts RG, et al. Nat Genet. 1996 Jun;13(2):223-6. doi: 10.1038/ng0696-223. Nat Genet. 1996. PMID: 8640231 - Dystrophin-related protein is found in the central nervous system of mice at various developmental stages, especially at the postsynaptic membrane.
Kamakura K, Tadano Y, Kawai M, Ishiura S, Nakamura R, Miyamoto K, Nagata N, Sugita H. Kamakura K, et al. J Neurosci Res. 1994 Apr 15;37(6):728-34. doi: 10.1002/jnr.490370607. J Neurosci Res. 1994. PMID: 8046773 - An autosomal transcript in skeletal muscle with homology to dystrophin.
Love DR, Hill DF, Dickson G, Spurr NK, Byth BC, Marsden RF, Walsh FS, Edwards YH, Davies KE. Love DR, et al. Nature. 1989 May 4;339(6219):55-8. doi: 10.1038/339055a0. Nature. 1989. PMID: 2541343 - Regulation and functional significance of utrophin expression at the mammalian neuromuscular synapse.
Gramolini AO, Wu J, Jasmin BJ. Gramolini AO, et al. Microsc Res Tech. 2000 Apr 1;49(1):90-100. doi: 10.1002/(SICI)1097-0029(20000401)49:1<90::AID-JEMT10>3.0.CO;2-L. Microsc Res Tech. 2000. PMID: 10757882 Review. - Structure-function relationships in dystrophin and utrophin.
Winder SJ. Winder SJ. Biochem Soc Trans. 1996 May;24(2):497-501. doi: 10.1042/bst0240497. Biochem Soc Trans. 1996. PMID: 8736791 Review. No abstract available.
Cited by
- Upregulation of utrophin improves the phenotype of Duchenne muscular dystrophy hiPSC-derived CMs.
Andrysiak K, Ferdek PE, Sanetra AM, Machaj G, Schmidt L, Kraszewska I, Sarad K, Palus-Chramiec K, Lis O, Targosz-Korecka M, Krüger M, Lewandowski MH, Ylla G, Stępniewski J, Dulak J. Andrysiak K, et al. Mol Ther Nucleic Acids. 2024 Jun 11;35(3):102247. doi: 10.1016/j.omtn.2024.102247. eCollection 2024 Sep 10. Mol Ther Nucleic Acids. 2024. PMID: 39035791 Free PMC article. - CRISPR-Based Gene Therapies: From Preclinical to Clinical Treatments.
Laurent M, Geoffroy M, Pavani G, Guiraud S. Laurent M, et al. Cells. 2024 May 8;13(10):800. doi: 10.3390/cells13100800. Cells. 2024. PMID: 38786024 Free PMC article. Review. - Challenges and Considerations of Preclinical Development for iPSC-Based Myogenic Cell Therapy.
Sun C, Serra C, Kalicharan BH, Harding J, Rao M. Sun C, et al. Cells. 2024 Mar 29;13(7):596. doi: 10.3390/cells13070596. Cells. 2024. PMID: 38607035 Free PMC article. Review. - Therapeutic approaches for Duchenne muscular dystrophy.
Roberts TC, Wood MJA, Davies KE. Roberts TC, et al. Nat Rev Drug Discov. 2023 Nov;22(11):917-934. doi: 10.1038/s41573-023-00775-6. Epub 2023 Aug 31. Nat Rev Drug Discov. 2023. PMID: 37652974 Review. - Endogenous bioluminescent reporters reveal a sustained increase in utrophin gene expression upon EZH2 and ERK1/2 inhibition.
Gleneadie HJ, Fernandez-Ruiz B, Sardini A, Van de Pette M, Dimond A, Prinjha RK, McGinty J, French PMW, Bagci H, Merkenschlager M, Fisher AG. Gleneadie HJ, et al. Commun Biol. 2023 Mar 25;6(1):318. doi: 10.1038/s42003-023-04666-9. Commun Biol. 2023. PMID: 36966198 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Molecular Biology Databases