Identification of a constitutively active mutant of JAK3 by retroviral expression screening

Leuk Res. 2007 Feb;31(2):203-9. doi: 10.1016/j.leukres.2006.05.006. Epub 2006 Jun 21.

Abstract

To identify transforming genes in acute myeloid leukemia (AML) we here constructed a retroviral cDNA expression library from an AML patient, and then used this library to infect a mouse cell line 32Dcl3-mCAT. cDNA inserts of the cell clones which proliferated in the presence of granulocyte colony-stimulating factor were derived from JAK3 encoding a JAK3 mutant with a valine-to-alanine substitution at codon 674 and two additional amino acid substitutions. The transforming activity of JAK3(V674A) was confirmed by its introduction into 32Dcl3-mCAT. Sequencing of the original JAK3 cDNA derived from the patient, however, failed to detect the V674A mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Disease
  • Amino Acid Substitution
  • Animals
  • Cell Line
  • Cell Transformation, Viral
  • Cloning, Molecular
  • Gene Expression
  • Gene Library
  • Genetic Testing / methods*
  • Humans
  • Janus Kinase 3 / genetics*
  • Leukemia, Myeloid / genetics*
  • Mice
  • Mutation*
  • Retroviridae / genetics*
  • Retroviridae / metabolism

Substances

  • JAK3 protein, human
  • Janus Kinase 3