title: Expression of multiple nebulin isoforms in human skeletal muscle and brain.
abstract: BACKGROUND
  Nebulin is a large actin-binding protein of the skeletal muscle sarcomere. Multiple isoforms of nebulin are produced from the 183-exon-containing nebulin gene (NEB). Mutations in NEB cause nemaline myopathy, distal myopathy, and core-rod myopathy.
  
  
  METHODS
  Nebulin mRNA expression was assessed by microarrays and RT-PCR in 21 human leg muscle and 2 brain samples. Protein expression was assessed by immunohistochemistry in 5 regions of 1 brain sample.
  
  
  RESULTS
  Nebulin isoform diversity is as high in brain as in skeletal muscle. Isoforms with more than 22 super repeats seem to be more common than previously anticipated. Immunohistochemistry showed nebulin expression predominantly in the cytoplasm of pyramidal neurons but also in the cytoplasm of mainly subcortical endothelial cells.
  
  
  CONCLUSIONS
  Nebulin, as in skeletal muscle, may have a role as an actin filament stabilizer or length regulator in neurons of the human brain, although patients with NEB mutations usually have normal cognition.
authors.affiliation: Department of Biosciences, Division of Genetics, PO Box 56, University of Helsinki, Helsinki FI-00014, Finland.
authors.forename: Jenni
authors.initials: J
authors.lastname: Laitila
authors.forename: Mubashir
authors.initials: M
authors.lastname: Hanif
authors.forename: Anders
authors.initials: A
authors.lastname: Paetau
authors.forename: Sari
authors.initials: S
authors.lastname: Hujanen
authors.forename: Joni
authors.initials: J
authors.lastname: Keto
authors.forename: Panu
authors.initials: P
authors.lastname: Somervuo
authors.forename: Sanna
authors.initials: S
authors.lastname: Huovinen
authors.forename: Bjarne
authors.initials: B
authors.lastname: Udd
authors.forename: Carina
authors.initials: C
authors.lastname: Wallgren-Pettersson
authors.forename: Petri
authors.initials: P
authors.lastname: Auvinen
authors.forename: Peter
authors.initials: P
authors.lastname: Hackman
authors.forename: Katarina
authors.initials: K
authors.lastname: Pelin
mesh_terms: D000199:Actins / Q000378:metabolism; D000328:Adult; D001921:Brain / Q000378:metabolism* / Q000473:pathology / Q000502:physiology; D005333:Fetus; D005786:Gene Expression Regulation; D006801:Humans; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000502:physiology; D009124:Muscle Proteins / Q000096:biosynthesis* / Q000235:genetics / Q000502:physiology; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000502:physiology; D009474:Neurons / Q000166:cytology / Q000378:metabolism; D020033:Protein Isoforms / Q000096:biosynthesis / Q000235:genetics
chemical_list: D000199:Actins; D009124:Muscle Proteins; D020033:Protein Isoforms; C035620:nebulin