C-terminal BRE overexpression in 11q23-rearranged and t(8;16) acute myeloid leukemia is caused by intragenic transcription initiation

Leukemia. 2018 Mar;32(3):828-836. doi: 10.1038/leu.2017.280. Epub 2017 Sep 5.

Abstract

Overexpression of the BRE (brain and reproductive organ-expressed) gene defines a distinct pediatric and adult acute myeloid leukemia (AML) subgroup. Here we identify a promoter enriched for active chromatin marks in BRE intron 4 causing strong biallelic expression of a previously unknown C-terminal BRE transcript. This transcript starts with BRE intron 4 sequences spliced to exon 5 and downstream sequences, and if translated might code for an N terminally truncated BRE protein. Remarkably, the new BRE transcript was highly expressed in over 50% of 11q23/KMT2A (lysine methyl transferase 2A)-rearranged and t(8;16)/KAT6A-CREBBP cases, while it was virtually absent from other AML subsets and normal tissues. In gene reporter assays, the leukemia-specific fusion protein KMT2A-MLLT3 transactivated the intragenic BRE promoter. Further epigenome analyses revealed 97 additional intragenic promoter marks frequently bound by KMT2A in AML with C-terminal BRE expression. The corresponding genes may be part of a context-dependent KMT2A-MLLT3-driven oncogenic program, because they were higher expressed in this AML subtype compared with other groups. C-terminal BRE might be an important contributor to this program because in a case with relapsed AML, we observed an ins(11;2) fusing CHORDC1 to BRE at the region where intragenic transcription starts in KMT2A-rearranged and KAT6A-CREBBP AML.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line
  • Chromosomes, Human, Pair 11
  • Chromosomes, Human, Pair 16
  • Epigenesis, Genetic
  • Exons
  • Gene Expression Regulation, Leukemic
  • Gene Rearrangement*
  • Histone-Lysine N-Methyltransferase / genetics
  • Histones / metabolism
  • Humans
  • Introns
  • Leukemia, Myeloid, Acute / genetics*
  • Myeloid-Lymphoid Leukemia Protein / genetics
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins / genetics
  • Promoter Regions, Genetic
  • Protein Interaction Domains and Motifs / genetics*
  • Transcriptional Activation*
  • Translocation, Genetic*

Substances

  • BABAM2 protein, human
  • Histones
  • KMT2A protein, human
  • MLLT3 protein, human
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase