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Diseases of the Nucleoskeleton

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The nucleus is separated from the cytosol by the nuclear envelope, which is a double lipid bilayer composed of the outer nuclear membrane and the inner nuclear membrane. The intermediate filament proteins lamin A, lamin B, and lamin C form a network underlying the inner nuclear membrane. This proteinaceous network provides the nucleus with its strength, rigidity, and elasticity. Positioned within the inner nuclear membrane are more than 150 inner nuclear membrane proteins, many of which interact directly with lamins and require lamins for their inner nuclear membrane localization. Inner nuclear membrane proteins and the nuclear lamins define the nuclear lamina. These inner nuclear membrane proteins have tissue‐specific expression and diverse functions including regulating cytoskeletal organization, nuclear architecture, cell cycle dynamics, and genomic organization. Loss or mutations in lamins and inner nuclear membrane proteins cause a wide spectrum of diseases. Here, I will review the functions of the well‐studied nuclear lamina proteins and the diseases associated with loss or mutations in these proteins. © 2016 American Physiological Society. Compr Physiol 6:1655‐1674, 2016.

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Figure 1. Figure 1. Map of emerin domain structure. Emerin regions that bind each emerin‐binding protein are shown below the emerin domain structure. Mutations in the residues shown block binding to one or more partners and define domain boundaries. Asterisks indicate positions of EDMD‐disease‐causing mutations. TM, transmembrane domain; RBD, repressor‐binding domain.
Figure 2. Figure 2. Emerin regulates gene expression using multiple mechanisms. Emerin regulates transcription regulators, including GCL and Lmo7, by sequestering them at the nuclear envelope to inhibit their activity. Additionally, emerin binding to transcription regulators also can effect their nuclear localization, including Lmo7 and β‐catenin, to inhibit activation of their target genes. Emerin also activates HDAC3 activity at the nuclear envelope to inhibit transcription of genes at the nuclear envelope.

Figure 1. Map of emerin domain structure. Emerin regions that bind each emerin‐binding protein are shown below the emerin domain structure. Mutations in the residues shown block binding to one or more partners and define domain boundaries. Asterisks indicate positions of EDMD‐disease‐causing mutations. TM, transmembrane domain; RBD, repressor‐binding domain.

Figure 2. Emerin regulates gene expression using multiple mechanisms. Emerin regulates transcription regulators, including GCL and Lmo7, by sequestering them at the nuclear envelope to inhibit their activity. Additionally, emerin binding to transcription regulators also can effect their nuclear localization, including Lmo7 and β‐catenin, to inhibit activation of their target genes. Emerin also activates HDAC3 activity at the nuclear envelope to inhibit transcription of genes at the nuclear envelope.
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James M. Holaska. Diseases of the Nucleoskeleton. Compr Physiol 2016, 6: 1655-1674. doi: 10.1002/cphy.c150039


It has come to my attention that I failed to acknowledge one of the funding sources in this publication. The author wishes to acknowledge that research reported in this publication was supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health under award number R15AR069935. The content of this manuscript is solely the responsibility of the author and does not necessarily represent the official views of the National Institutes of Health. The author apologizes for the omission of this acknowledgement in the original publication.


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James M. Holaska. Diseases of the Nucleoskeleton. Compr Physiol 2016, 6: 1655-1674. doi: 10.1002/cphy.c150039