CCGG deletion (rs201074739) in CD33 results in premature termination codon and complete loss of CD33 expression: another key variant with potential impact on response to CD33-directed agents.

We have recently reported a splicing SNP (rs12459419 C>T) in CD33 that results in loss of exon 2 producing a short-form of CD33 (CD33-D2) lacking IgV domain [[7]]. (d) Inhibition of translation with cycloheximide (CHX) in a CCGG/CCGG (NA07055) lymphoblast cell line has no significant impact on CD33 transcript levels. However, no significant difference in the CD33 transcript with 4 h CHX treatment was observed for maternal cell line-NA07055 (CCGG/CCGG genotype), as shown in Figure 2(d). CD33 splicing SNP regulates expression levels of CD33 in normal regenerating monocytes in AML patients. [Extracted from the article]