Identification of a polymorphism in the transmembrane domain of the protooncogene c-kit in healthy subjects

Exp Clin Immunogenet. 1996;13(3-4):210-4.


c-Kit is the receptor for stem cell factor (SCF) and is found on hematopoietic stem cells, mast cells, melanocytes, and germ cells. Aggregation of c-Kit by SCF regulates cell proliferation, differentiation, and survival. In the process of examining c-Kit, a polymorphism in the transmembrane domain of the protooncogene c-Kit was identified. This polymorphism consisted of an A-to-C transversion at nucleotide (nt) 1642, and was deduced to substitute leucine for methionine at codon 541. The frequency of the allele with 'C' at nt 1642 was 0.09 in 64 unrelated subjects. Analysis of a two-generation family with the polymorphism suggested that this polymorphism did not result in disease. This is the first report of a polymorphism in the transmembrane domain of c-Kit, and may be of value in understanding and following the function of c-Kit in normal subjects and in those with other abnormalities of c-Kit.

MeSH terms

  • Adult
  • Alleles
  • Exons / genetics
  • Family Health
  • Female
  • Gene Frequency / genetics
  • Heterozygote
  • Homozygote
  • Humans
  • Leucine / genetics
  • Leucine / metabolism
  • Male
  • Membrane Proteins / chemistry*
  • Methionine / genetics
  • Methionine / metabolism
  • Middle Aged
  • Point Mutation
  • Polymorphism, Genetic*
  • Polymorphism, Single-Stranded Conformational
  • Protein Structure, Tertiary
  • Proto-Oncogene Proteins c-kit / genetics*


  • Membrane Proteins
  • Methionine
  • Proto-Oncogene Proteins c-kit
  • Leucine