title: Tissue specificity in the nuclear envelope supports its functional complexity.
abstract: Nuclear envelope links to inherited disease gave the conundrum of how mutations in near-ubiquitous proteins can yield many distinct pathologies, each focused in different tissues. One conundrum-resolving hypothesis is that tissue-specific partner proteins mediate these pathologies. Such partner proteins may have now been identified with recent proteome studies determining nuclear envelope composition in different tissues. These studies revealed that the majority of the total nuclear envelope proteins are tissue restricted in their expression. Moreover, functions have been found for a number these tissue-restricted nuclear envelope proteins that fit with mechanisms proposed to explain how the nuclear envelope could mediate disease, including defects in mechanical stability, cell cycle regulation, signaling, genome organization, gene expression, nucleocytoplasmic transport, and differentiation. The wide range of functions to which these proteins contribute is consistent with not only their involvement in tissue-specific nuclear envelope disease pathologies, but also tissue evolution.
authors.affiliation: Wellcome Trust Centre for Cell Biology and Institute of Cell Biology; University of Edinburgh; Edinburgh, UK.
authors.forename: Jose I
authors.initials: JI
authors.lastname: de Las Heras
authors.affiliation: Wellcome Trust Centre for Cell Biology and Institute of Cell Biology; University of Edinburgh; Edinburgh, UK.
authors.forename: Peter
authors.initials: P
authors.lastname: Meinke
authors.affiliation: Wellcome Trust Centre for Cell Biology and Institute of Cell Biology; University of Edinburgh; Edinburgh, UK.
authors.forename: Dzmitry G
authors.initials: DG
authors.lastname: Batrakou
authors.affiliation: Wellcome Trust Centre for Cell Biology and Institute of Cell Biology; University of Edinburgh; Edinburgh, UK.
authors.forename: Vlastimil
authors.initials: V
authors.lastname: Srsen
authors.affiliation: Wellcome Trust Centre for Cell Biology and Institute of Cell Biology; University of Edinburgh; Edinburgh, UK.
authors.forename: Nikolaj
authors.initials: N
authors.lastname: Zuleger
authors.affiliation: Wellcome Trust Centre for Cell Biology and Institute of Cell Biology; University of Edinburgh; Edinburgh, UK.
authors.forename: Alastair Rw
authors.initials: AR
authors.lastname: Kerr
authors.affiliation: Wellcome Trust Centre for Cell Biology and Institute of Cell Biology; University of Edinburgh; Edinburgh, UK.
authors.forename: Eric C
authors.initials: EC
authors.lastname: Schirmer
mesh_terms: D021581:Active Transport, Cell Nucleus; D000818:Animals; D002453:Cell Cycle / Q000502:physiology; D002454:Cell Differentiation / Q000502:physiology; D002467:Cell Nucleus / Q000378:metabolism*; D019143:Evolution, Molecular; D006801:Humans; D008565:Membrane Proteins / Q000378:metabolism; D023421:Models, Animal; D009685:Nuclear Envelope / Q000737:chemistry*; D009687:Nuclear Proteins / Q000378:metabolism; D009928:Organ Specificity / Q000502:physiology*; D020543:Proteome / Q000378:metabolism; D015398:Signal Transduction
chemical_list: D008565:Membrane Proteins; D009687:Nuclear Proteins; D020543:Proteome
keywords: NET; NPC; cell cycle regulation; cytoskeleton; laminopathy; nuclear envelopathy; nuclear envelope; spatial genome organization; tissue specific