Overexpression of sPRDM16 coupled with loss of p53 induces myeloid leukemias in mice
J. Clin. Invest. Danielle C. Shing, et al. 117:3696 doi:10.1172/JCI32390 [Go to this article.]

Figure 6
TP53 mutations in 2 AML patients with PRDM16 overexpression. (A) Direct sequence analysis of the TP53 transcript from case 2, showing a heterozygous point mutation. (B) Left: Direct sequence analysis of the TP53 transcript from case 5, showing 2 different fusions of the 5′ and 3′ extremities of introns 4 and 7, respectively. Sequence from exons 5–7 was absent in both. Right: Nucleotide sequences of 20 clones, obtained after TOPO-TA cloning of the TP53 transcript, revealed 2 classes of cDNAs lacking exons 5–7 and containing different portions of introns 4 and 7, as predicted by direct sequence analysis. The resulting 2 transcripts consist of TP53 exons 1–4, rearranged introns 4 and 7, and exons 8–11. In both cases, premature TGA stop codon (asterisk) in intron 4 led to the formation of a 174–amino acid–truncated p53 protein lacking an intact DNA binding domain. No clones containing the WT TP53 transcript were found.