Patel, P. and Harris, R. and Geddes, Stella M. and Strehle, E.M. and Watson, J.D. and Bashir, R. and Bushby, K. and Driscoll, P.C. and Keep, Nicholas H. (2008) Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b. Journal of Molecular Biology 379 (5), pp. 981-990. ISSN 0022-2836.
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Abstract
Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix. However, there is sequence conservation in some of the ferlin family in regions outside the C2 domains. In one annotation of the domain structure of these proteins, an unusual internal duplication event has been noted where a putative domain is inserted in between the N- and C-terminal parts of a homologous domain. This domain is known as the DysF domain. Here, we present the solution structure of the inner DysF domain of the dysferlin paralogue myoferlin, which has a unique fold held together by stacking of arginine and tryptophans, mutations that lead to clinical disease in dysferlin.
Metadata
| Item Type: | Article |
|---|---|
| Additional Information: | NOTICE: this is the author’s version of a work that was accepted for publication in Journal of Molecular Biology. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be reflected in this document. Changes may have been made to this work since it was submitted for publication. A definitive version was subsequently published in Journal of Molecular Biology, 379(5), June 2008, http://dx.doi.org/10.1016/j.jmb.2008.04.046 |
| Keyword(s) / Subject(s): | muscular dystrophy, dysferlin, myoferlin, Fer domain, NMR |
| School: | Birkbeck Faculties and Schools > Faculty of Science > School of Natural Sciences |
| Research Centres and Institutes: | Structural Molecular Biology, Institute of (ISMB) |
| Depositing User: | Administrator |
| Date Deposited: | 04 Aug 2010 14:09 |
| Last Modified: | 12 Jun 2025 23:24 |
| URI: | https://eprints.bbk.ac.uk/id/eprint/1023 |
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