Nuclear membrane diversity: underlying tissue-specific pathologies in disease?
作者： Howard J Worman , Eric C Schirmer
DOI: 10.1016/J.CEB.2015.06.003
关键词: Gene 、 Signal transduction 、 Gene expression 、 Nuclear lamina 、 Transmembrane protein 、 Biology 、 Nuclear protein 、 Laminopathy 、 Cell biology 、 Cell type
摘要: Human ‘laminopathy’ diseases result from mutations in genes encoding nuclear lamins or envelope (NE) transmembrane proteins (NETs). These present a seeming paradox: the mutated are widely expressed yet pathology is limited to specific tissues. New findings suggest tissue-specific pathologies arise because these act various complexes that include components. Diverse mechanisms achieve NE tissue-specificity regulation of expression, mRNA splicing, signaling, NE-localization and interactions potentially hundreds NETs. NETs underlie roles cytoskeletal mechanics, cell-cycle regulation, gene expression genome organization. This view as ‘specialized’ each cell type important understand NE-linked diseases.
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