I787 provides signals for c-Kit receptor internalization and functionality that control mast cell survival and development

Blood. 2010 Oct 14;116(15):2665-75. doi: 10.1182/blood-2009-06-228460. Epub 2010 Jul 1.

Abstract

Mast cell (MC) differentiation, survival, and activation are controlled by the membrane tyrosine kinase c-Kit upon interaction with stem cell factor (SCF). Here we describe a single point mutation induced by N-ethyl-N-nitrosurea (ENU) mutagenesis in C57BL/6J mice-an A to T transversion at position 2388 (exon 17) of the c-Kit gene, resulting in the isoleucine 787 substitution by phenylalanine (787F), and analyze the consequences of this mutation for ligand binding, signaling, and MC development. The Kit(787F/787F) mice carrying the single amino acid exchange of c-Kit lacks both mucosal and connective tissue-type MCs. In bone marrow-derived mast cells (BMMCs), the 787F mutation does not affect SCF binding and c-Kit receptor shedding, but strongly impairs SCF-induced cytokine production, degranulation enhancement, and apoptosis rescue. Interestingly, c-Kit downstream signaling in 787F BMMCs is normally initiated (Erk1/2 and p38 activation as well as c-Kit autophosphorylation) but fails to be sustained thereafter. In addition, 787F c-Kit does not efficiently mediate Cbl activation, leading to the absence of subsequent receptor ubiquitination and impaired c-Kit internalization. Thus, I787 provides nonredundant signals for c-Kit internalization and functionality.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Amino Acid Substitution
  • Animals
  • Base Sequence
  • Cell Differentiation / drug effects
  • Cell Differentiation / genetics
  • Cell Differentiation / physiology*
  • Cell Line
  • Cell Survival / genetics
  • Cell Survival / physiology
  • DNA Primers / genetics
  • In Vitro Techniques
  • Interleukin-3 / pharmacology
  • Isoleucine / chemistry
  • Mast Cells / cytology*
  • Mast Cells / drug effects
  • Mast Cells / metabolism*
  • Mice
  • Mice, Inbred C3H
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Mutagenesis, Site-Directed
  • Mutant Proteins / chemistry
  • Mutant Proteins / genetics
  • Mutant Proteins / metabolism
  • Point Mutation
  • Proto-Oncogene Proteins c-cbl / metabolism
  • Proto-Oncogene Proteins c-kit / chemistry*
  • Proto-Oncogene Proteins c-kit / genetics
  • Proto-Oncogene Proteins c-kit / metabolism*
  • Signal Transduction
  • Stem Cell Factor / metabolism

Substances

  • DNA Primers
  • Interleukin-3
  • Mutant Proteins
  • Stem Cell Factor
  • Isoleucine
  • Proto-Oncogene Proteins c-cbl
  • Proto-Oncogene Proteins c-kit
  • Cbl protein, mouse