Reduction of a 4q35-encoded nuclear envelope protein in muscle differentiation

Cecilia Ostlund, Tinglu Guan, Denise A Figlewicz, Arthur P Hays, Howard J Worman, Larry Gerace, Eric C Schirmer

Research output: Contribution to journalArticlepeer-review

Abstract

Muscular dystrophy and peripheral neuropathy have been linked to mutations in genes encoding nuclear envelope proteins; however, the molecular mechanisms underlying these disorders remain unresolved. Nuclear envelope protein p19A is a protein of unknown function encoded by a gene at chromosome 4q35. p19A levels are significantly reduced in human muscle as cells differentiate from myoblasts to myotubes; however, its levels are not similarly reduced in all differentiation systems tested. Because 4q35 has been linked to facioscapulohumeral muscular dystrophy (FSHD) and some adjacent genes are reportedly misregulated in the disorder, levels of p19A were analyzed in muscle samples from patients with FSHD. Although p19A was increased in most cases, an absolute correlation was not observed. Nonetheless, p19A downregulation in normal muscle differentiation suggests that in the cases where its gene is inappropriately re-activated it could affect muscle differentiation and contribute to disease pathology.
Original languageEnglish
Pages (from-to)279-83
Number of pages5
JournalBiochemical and Biophysical Research Communications
Volume389
Issue number2
DOIs
Publication statusPublished - 2009

Keywords

  • Amino Acid Sequence
  • Animals
  • Cell Line
  • Chromosomes, Human, Pair 4
  • Down-Regulation
  • Humans
  • Molecular Sequence Data
  • Muscle Development
  • Muscular Dystrophy, Facioscapulohumeral
  • S-Phase Kinase-Associated Proteins

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