Deletions encompassing the RPL22 locus are observed in approximately 10% of primary T-ALL samples. (A) aCGH copy number analysis of primary T-ALL samples. Genomic DNA from primary T-ALL samples was subjected to copy number analysis as described.11 Vertical dark blue bars denote the position of the deletion. Adjacent genes and their orientation relative to the RPL22 locus are indicated on the right. (B) Sequence analysis of the RPL22 alleles of T-ALL relapse patient samples and cell lines. Representative DNA sequencing chromatograms from T-ALL cell lines with wild-type (left) or mutant (right) RPL22 alleles are depicted. The loss of a single A nucleotide in the stretch of 8 consecutive A on the mutant allele causes a shift in the translational reading frame that truncates Rpl22 after 18 amino acids.
