Figure 1.
Acquired mutation of the PIM1 gene in case #39. (A) Exon 4 of the PIM1 gene in case #39 had a missense mutation in the sample at diagnosis but not at remission (top panel). The mutation leads to the amino acid change of glutamic acid (E) to lysine (K) at amino acid 135 (E135K) of PIM1 protein. This mutated amino acid is located between the ATP binding domain and serine-threonine kinase domain of the protein (middle panel). The wild-type amino acid (E) is highly conserved among human, rat, mouse and xenopus (bottom). Note, *identical amino acid. (B) The mutated DNA sequence produced a Hpy188III restriction enzyme recognition sequence. The region was amplified by PCR, digested with Hpy188III, and subjected to agarose gel electrophoresis. The PCR product from only case #39 was digested.