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Deadly fusion

Acute megakaryoblastic leukemia (AMKL) kills its young victims within a matter of months; and AMKL is associated with a chromosomal translocation t(1;22)(p13;q13). In the July issue of Nature Genetics, Ma et al. report the identification of two novel genes that are fused at the translocation breakpoint (Nature Genetics 2001, 28:220-221). They used a cloning strategy based on fluorescence in situ hybridization (FISH) to define the breakpoint and to recover bacterial artificial chromosome (BAC) clones covering the region. From these, they cloned a chromosome 22 gene, named MKL1 (megakaryoblastic leukemia-1) that contains a SAP DNA-binding motif and may be involved in chromatin remodelling. MKL1 is fused to a gene on chromosome 1 called RBM15 (RNA-binding motif protein 15); it encodes RNA-recognition motifs and resembles the Drosophila gene spen. The authors speculate that the RMM15-MKL1 fusion protein causes aberrant RNA processing and signalling that disrupts megakaryoblast differentiation and/or proliferation.

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Weitzman, J.B. Deadly fusion. Genome Biol 2, spotlight-20010703-02 (2001). https://doi.org/10.1186/gb-spotlight-20010703-02

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  • DOI: https://doi.org/10.1186/gb-spotlight-20010703-02

Keywords

  • Bacterial Artificial Chromosome
  • Chromatin Remodelling
  • Chromosomal Translocation
  • Nature Genetic
  • Cloning Strategy