Genomic structure of the human MLL3 gene.

MLL3 is transcribed from two separate promoters (arrows), and the promoter for the larger transcript contains a CpG island while there is none in the truncated form. The locations of mutations found in this and previous reports are indicated by arrows. Each arrow corresponds to a single case with a mutation, except for the one region with multiple arrows, which corresponds to the polyA tract. MLL3 gene encodes a predicted protein of 4911 amino acids containing two plant homeodomains (PHD), an ATPase alpha/beta signature, a high mobility group, a SET (Suppressor of variegation, Enhancer of zeste, Trithorax) and two FY (phenylalanine tyrosine) rich domains. Each of the mutations in primary samples were shown under the genome structure schema in Figure 1.