Recurrent deletions in clonal hematopoiesis are driven by microhomology-mediated end joining

Nat Commun. 2021 Apr 28;12(1):2455. doi: 10.1038/s41467-021-22803-y.

Abstract

The mutational mechanisms underlying recurrent deletions in clonal hematopoiesis are not entirely clear. In the current study we inspect the genomic regions around recurrent deletions in myeloid malignancies, and identify microhomology-based signatures in CALR, ASXL1 and SRSF2 loci. We demonstrate that these deletions are the result of double stand break repair by a PARP1 dependent microhomology-mediated end joining (MMEJ) pathway. Importantly, we provide evidence that these recurrent deletions originate in pre-leukemic stem cells. While DNA polymerase theta (POLQ) is considered a key component in MMEJ repair, we provide evidence that pre-leukemic MMEJ (preL-MMEJ) deletions can be generated in POLQ knockout cells. In contrast, aphidicolin (an inhibitor of replicative polymerases and replication) treatment resulted in a significant reduction in preL-MMEJ. Altogether, our data indicate an association between POLQ independent MMEJ and clonal hematopoiesis and elucidate mutational mechanisms involved in the very first steps of leukemia evolution.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aphidicolin / pharmacology
  • Calreticulin / genetics
  • Clonal Hematopoiesis / genetics*
  • DNA Breaks, Double-Stranded
  • DNA End-Joining Repair / genetics*
  • DNA Polymerase theta
  • DNA-Directed DNA Polymerase / drug effects
  • DNA-Directed DNA Polymerase / genetics*
  • Enzyme Inhibitors / pharmacology
  • Humans
  • Leukemia, Myeloid / genetics*
  • Myeloid Progenitor Cells
  • Poly (ADP-Ribose) Polymerase-1 / metabolism*
  • Repressor Proteins / genetics
  • Sequence Deletion / genetics
  • Serine-Arginine Splicing Factors / genetics

Substances

  • ASXL1 protein, human
  • CALR protein, human
  • Calreticulin
  • Enzyme Inhibitors
  • Repressor Proteins
  • SRSF2 protein, human
  • Serine-Arginine Splicing Factors
  • Aphidicolin
  • PARP1 protein, human
  • Poly (ADP-Ribose) Polymerase-1
  • DNA-Directed DNA Polymerase