Rer1p maintains ciliary length and signaling by regulating γ-secretase activity and Foxj1a levels

J Cell Biol. 2013 Mar 18;200(6):709-20. doi: 10.1083/jcb.201208175. Epub 2013 Mar 11.

Abstract

Cilia project from the surface of most vertebrate cells and are important for several physiological and developmental processes. Ciliary defects are linked to a variety of human diseases, named ciliopathies, underscoring the importance of understanding signaling pathways involved in cilia formation and maintenance. In this paper, we identified Rer1p as the first endoplasmic reticulum/cis-Golgi-localized membrane protein involved in ciliogenesis. Rer1p, a protein quality control receptor, was highly expressed in zebrafish ciliated organs and regulated ciliary structure and function. Both in zebrafish and mammalian cells, loss of Rer1p resulted in the shortening of cilium and impairment of its motile or sensory function, which was reflected by hearing, vision, and left-right asymmetry defects as well as decreased Hedgehog signaling. We further demonstrate that Rer1p depletion reduced ciliary length and function by increasing γ-secretase complex assembly and activity and, consequently, enhancing Notch signaling as well as reducing Foxj1a expression.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Vesicular Transport
  • Amyloid Precursor Protein Secretases / genetics
  • Amyloid Precursor Protein Secretases / metabolism*
  • Animals
  • Cell Line
  • Cilia / genetics
  • Cilia / metabolism
  • Forkhead Transcription Factors / biosynthesis*
  • Forkhead Transcription Factors / genetics
  • Gene Expression Regulation / physiology*
  • Humans
  • Membrane Glycoproteins / genetics
  • Membrane Glycoproteins / metabolism*
  • Receptors, Notch / genetics
  • Receptors, Notch / metabolism
  • Signal Transduction / physiology*
  • Swine
  • Zebrafish
  • Zebrafish Proteins

Substances

  • Adaptor Proteins, Vesicular Transport
  • FOXJ1 protein, human
  • Forkhead Transcription Factors
  • Foxj1a protein, zebrafish
  • Membrane Glycoproteins
  • RER1 protein, human
  • Receptors, Notch
  • Zebrafish Proteins
  • Amyloid Precursor Protein Secretases