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Filamins and Disease

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Cytoskeleton and Human Disease

Abstract

The filamins are a family of three homologous proteins, named for their filamentous structure, that were first identified for their actin cross-linking properties. All three isoforms adopt dimeric configurations within the cellular cytoskeleton and it is this structure, together with their N-terminal actin-binding domains, that facilitate their ability to cross-link actin fibrils into orthogonally oriented branched meshworks. Although first studied in the context of cancer, several Mendelian syndromes have now been characterized that are caused by mutations in all three genes encoding these proteins. The manifestations of some of these conditions are surprisingly restricted considering the widespread expression of these genes during development. Genetic data, cell biological approaches and biochemical studies indicate that mutations in all three genes confer gain or loss of function properties to filamins explaining some of the phenotypic diversity. Study of the phenotypic consequences of these mutations have revealed tissue-specific properties to filamins and contribute to the understanding of these proteins, not only in their role in cross-linking actin meshworks but also in scaffolding signal transduction cascades, maintaining focal adhesion integrity, mediating mechanosensation, regulating extracellular matrix composition and maintaining sarcomeric superstructure in muscle.

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  1. Department of Pediatrics and Child Health, Dunedin School of Medicine, University of Otago, PO Box 913, 9054, Dunedin, New Zealand

    Stephen P. Robertson & Philip B. Daniel

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  2. Philip B. Daniel
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Correspondence to Stephen P. Robertson .

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  1. Australia for Medical Research, Iron Metabolism Program, Children's Cancer Institute, Randwick, New South Wales, Australia

    Maria Kavallaris

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Robertson, S.P., Daniel, P.B. (2012). Filamins and Disease. In: Kavallaris, M. (eds) Cytoskeleton and Human Disease. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-61779-788-0_7

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