Triplication of a 21q22 region contributes to B cell transformation through HMGN1 overexpression and loss of histone H3 Lys27 trimethylation

Nat Genet. 2014 Jun;46(6):618-23. doi: 10.1038/ng.2949. Epub 2014 Apr 20.

Abstract

Down syndrome confers a 20-fold increased risk of B cell acute lymphoblastic leukemia (B-ALL), and polysomy 21 is the most frequent somatic aneuploidy among all B-ALLs. Yet the mechanistic links between chromosome 21 triplication and B-ALL remain undefined. Here we show that germline triplication of only 31 genes orthologous to human chromosome 21q22 confers mouse progenitor B cell self renewal in vitro, maturation defects in vivo and B-ALL with either the BCR-ABL fusion protein or CRLF2 with activated JAK2. Chromosome 21q22 triplication suppresses histone H3 Lys27 trimethylation (H3K27me3) in progenitor B cells and B-ALLs, and 'bivalent' genes with both H3K27me3 and H3K4me3 at their promoters in wild-type progenitor B cells are preferentially overexpressed in triplicated cells. Human B-ALLs with polysomy 21 are distinguished by their overexpression of genes marked with H3K27me3 in multiple cell types. Overexpression of HMGN1, a nucleosome remodeling protein encoded on chromosome 21q22 (refs. 3,4,5), suppresses H3K27me3 and promotes both B cell proliferation in vitro and B-ALL in vivo.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Animals
  • B-Lymphocytes / cytology*
  • Bone Marrow Transplantation
  • Cell Proliferation
  • Chromosomes, Human, Pair 21
  • DNA Methylation
  • Female
  • Fusion Proteins, bcr-abl / metabolism
  • Gene Duplication*
  • HMGN1 Protein / genetics*
  • Histones / metabolism*
  • Humans
  • Lysine / genetics*
  • Male
  • Methylation
  • Mice
  • Mice, Inbred C57BL
  • Nucleosomes / metabolism
  • Phenotype
  • Promoter Regions, Genetic

Substances

  • HMGN1 Protein
  • Histones
  • Nucleosomes
  • Fusion Proteins, bcr-abl
  • Lysine