Abstract
lntermediate filaments constitute one of the major classes of cytoskeletal proteins of mammalian cells. The 40 or more known intermediate filament proteins have been classified into five types which show very specific rules of expression in specialized cell types, and include: type I and type II keratins of epithelial cells; type III vimentin (mesenchymal cells), desmin (muscle), glial fibrillary acidic protein (astroglia), and peripherin (peripheral neurones); type IV neurofilaments of neuronal cell types; and type V nuclear lamins. lntermediate filaments differ from ubiquitous microfilaments (actin) and microtubules (tubulin) in several important ways, including their structures, intracellular dynamics, and functions. Notably, intermediate filament chains possess a characteristic central α-helical domain that forms coiled-coil rods which in turn assemble into 10-15 nm diameter filaments. The end domains which flank the rod domain are highly variable in sequence and confer specific functions to the filaments in different cell types. Recently, a number of diseases have been identified in human that involve mutations in genes encoding intermediate filament chains. These include seven different keratin diseases, usually caused by mutations in rod domain sequences which often result in serious skin (epidermal) abnormalities; and many cases of sporadic amyotrophic lateral sclerosis caused by mutations in the end domain sequences of neurofilament chains.
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Steinert, P. Intermediate filaments in health and disease. Exp Mol Med 28, 55–63 (1996). https://doi.org/10.1038/emm.1996.9
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DOI: https://doi.org/10.1038/emm.1996.9