Yip1 domain family, member 6 (Yipf6) mutation induces spontaneous intestinal inflammation in mice

Proc Natl Acad Sci U S A. 2012 Jul 31;109(31):12650-5. doi: 10.1073/pnas.1210366109. Epub 2012 Jul 16.

Abstract

Using an environmentally sensitized genetic screen we identified mutations that cause inflammatory colitis in mice. The X-linked Klein-Zschocher (KLZ) mutation created a null allele of Yipf6, a member of a gene family believed to regulate vesicular transport in yeast, but without known functions in mammals. Yipf6 is a five transmembrane-spanning protein associated with Golgi compartments. Klein-Zschocher mutants were extremely sensitive to colitis induced by dextran sodium sulfate (DSS) and developed spontaneous ileitis and colitis after 16 mo of age in specific pathogen-free housing conditions. Electron microscopy, gene expression, and immunocytochemistry analyses provided evidence that impaired intestinal homeostasis stemmed from defective formation and secretion of large secretory granules from Paneth and goblet cells. These studies support a tissue- and organ-specific function for Yipf6 in the maintenance of intestinal homeostasis and implicate the orthologous human gene as a disease susceptibility locus.

Publication types

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

MeSH terms

  • Animals
  • Colitis / chemically induced
  • Colitis / genetics
  • Colitis / metabolism*
  • Colitis / pathology
  • Dextran Sulfate / toxicity
  • Female
  • Gene Expression Regulation
  • Genetic Loci
  • Genetic Predisposition to Disease
  • Goblet Cells / metabolism*
  • Goblet Cells / ultrastructure
  • Golgi Apparatus / genetics
  • Golgi Apparatus / metabolism
  • Golgi Apparatus / ultrastructure
  • Humans
  • Ileitis / chemically induced
  • Ileitis / genetics
  • Ileitis / metabolism
  • Ileitis / pathology
  • Male
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism*
  • Mice
  • Mice, Transgenic
  • Mutation*
  • Paneth Cells / metabolism*
  • Paneth Cells / ultrastructure

Substances

  • Membrane Proteins
  • Dextran Sulfate