MLL3Mixed Lineage Leukemia 3
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Most of the exons with extremely high coverage (>1400X) appeared to come from a few genes [HYDIN, axonemal central pair apparatus protein (HYDIN) and lysine (K)specific methyltransferase 2C (KMT2C, also known as MLL3)] and were likely caused by incompleteness (homologous regions not represented) in the hg19 reference genome (see online Supplemental Table 4); we therefore excluded mutations detected in those exons.
As the majority of cases over-expressing HOXA9 in the study exhibited bi-allelic expression, consistent with deregulation of an upstream HMT event, genes involved in regulating HOXA9 were evaluated for mutations with findings revealing mutations in several genes: MLL, MLL2, MLL3, and MMSET [5].
The TrxG core interacts with a group of interchangeable H3K4 methyltransferases, including some called mixed lineage leukemia (MLL) proteins (i.e., MLL1, MLL2, MLL3, and MLL4) and proteins called SET1A and SET1B (Jiang et al.
Mutations in MLL2 and MLL3 were identified in 16 percent of the entire set of 88 medulloblastoma samples.