title: Fraying at the edge mouse models of diseases resulting from defects at the nuclear periphery.
abstract: Eukaryotic cells compartmentalize their genetic material within the nucleus. The boundary separating the genetic material from the cytoplasm is the nuclear envelope (NE) and lamina. Historically, the NE was perceived as functioning primarily as a barrier regulating the entry and exit of macromolecules between the nucleus and cytoplasm via the nuclear pore complexes (NPCs) that traverse the nuclear membranes. However, recent findings have caused a fundamental reassessment with regard to NE and lamina functions. Evidence now points to the NE and lamina functioning as a "hub" in regulating and perhaps integrating critical cellular functions that include chromatin organization, transcriptional regulation, mechanical integrity of the cell, signaling pathways, as well as acting as a key component of the cytoskeleton. Such an integral role for the nuclear boundary has emerged from increased interest into the functions of the NE/lamina, which has been largely stimulated by the discovery that some 24 different diseases and anomalies are caused by defects in proteins of the NE and lamina.
authors.affiliation: Center for Genetic Medicine, Children's National Medical Center, N.W. Washington, DC 20010, USA.
authors.forename: Tatiana V
authors.initials: TV
authors.lastname: Cohen
authors.forename: Colin L
authors.initials: CL
authors.lastname: Stewart
mesh_terms: D000818:Animals; D002467:Cell Nucleus / Q000235:genetics / Q000473:pathology*; D004194:Disease / Q000209:etiology*; D004195:Disease Models, Animal; D006801:Humans; D034882:Lamins / Q000172:deficiency / Q000235:genetics; D051379:Mice; D008822:Mice, Transgenic; D008954:Models, Biological; D009154:Mutation; D009685:Nuclear Envelope / Q000235:genetics / Q000473:pathology*; D022022:Nuclear Pore / Q000235:genetics / Q000473:pathology*; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism; D011371:Progeria / Q000235:genetics / Q000473:pathology; D013577:Syndrome
chemical_list: D034882:Lamins; D009687:Nuclear Proteins