title: Emerin in health and disease.
abstract: Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the genes encoding emerin, lamins A and C and FHL1. Additional EDMD-like syndromes are caused by mutations in nesprins and LUMA. This review will specifically focus on emerin function and the current thinking for how loss or mutations in emerin cause EDMD. Emerin is a well-conserved, ubiquitously expressed protein of the inner nuclear membrane. Emerin has been shown to have diverse functions, including the regulation of gene expression, cell signaling, nuclear structure and chromatin architecture. This review will focus on the relationships between these functions and the EDMD disease phenotype. Additionally it will highlight open questions concerning emerin's roles in cell and nuclear biology and disease.
authors.affiliation: Committee on Genetics, Genomics and Systems Biology, The University of Chicago, Chicago, IL 60637, USA. Electronic address: ajkoch@uchicago.edu.
authors.forename: Adam J
authors.initials: AJ
authors.lastname: Koch
authors.affiliation: Committee on Genetics, Genomics and Systems Biology, The University of Chicago, Chicago, IL 60637, USA; Committee on Developmental, Regeneration and Stem Cell Biology, The University of Chicago, Chicago, IL 60637, USA. Electronic address: jholaska@uchicago.edu.
authors.forename: James M
authors.initials: JM
authors.lastname: Holaska
mesh_terms: D000818:Animals; D004268:DNA-Binding Proteins / Q000378:metabolism; D018507:Gene Expression Regulation, Developmental / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D060588:LIM Domain Proteins / Q000235:genetics / Q000378:metabolism; D034904:Lamin Type A / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D009124:Muscle Proteins / Q000235:genetics; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics*; D009154:Mutation; D034881:Nuclear Lamina / Q000235:genetics* / Q000502:physiology; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D012097:Repressor Proteins / Q000378:metabolism; D015398:Signal Transduction / Q000235:genetics; D014157:Transcription Factors / Q000378:metabolism; D025521:Tumor Suppressor Proteins / Q000378:metabolism; D051176:beta Catenin / Q000378:metabolism
chemical_list: C501959:BANF1 protein, human; C119386:BCLAF1 protein, human; D004268:DNA-Binding Proteins; C101149:FHL1 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D060588:LIM Domain Proteins; C494847:LMNA protein, human; C116184:LMO7 protein, human; D034904:Lamin Type A; D008565:Membrane Proteins; D009124:Muscle Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; D051176:beta Catenin; C092710:emerin
keywords: Emerin; Emery-Dreifuss muscular dystrophy; Lamina; Laminopathies; Lamins A/C; Nuclear envelope