Cytokinesis failure occurs in Fanconi anemia pathway-deficient murine and human bone marrow hematopoietic cells

J Clin Invest. 2010 Nov;120(11):3834-42. doi: 10.1172/JCI43391.

Abstract

Fanconi anemia (FA) is a genomic instability disorder characterized by bone marrow failure and cancer predisposition. FA is caused by mutations in any one of several genes that encode proteins cooperating in a repair pathway and is required for cellular resistance to DNA crosslinking agents. Recent studies suggest that the FA pathway may also play a role in mitosis, since FANCD2 and FANCI, the 2 key FA proteins, are localized to the extremities of ultrafine DNA bridges (UFBs), which link sister chromatids during cell division. However, whether FA proteins regulate cell division remains unclear. Here we have shown that FA pathway-deficient cells display an increased number of UFBs compared with FA pathway-proficient cells. The UFBs were coated by BLM (the RecQ helicase mutated in Bloom syndrome) in early mitosis. In contrast, the FA protein FANCM was recruited to the UFBs at a later stage. The increased number of bridges in FA pathway-deficient cells correlated with a higher rate of cytokinesis failure resulting in binucleated cells. Binucleated cells were also detectable in primary murine FA pathway-deficient hematopoietic stem cells (HSCs) and bone marrow stromal cells from human patients with FA. Based on these observations, we suggest that cytokinesis failure followed by apoptosis may contribute to bone marrow failure in patients with FA.

Publication types

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

MeSH terms

  • Animals
  • Bone Marrow Cells / cytology*
  • Bone Marrow Cells / physiology*
  • Cytokinesis / physiology*
  • Fanconi Anemia / genetics
  • Fanconi Anemia / physiopathology*
  • Fanconi Anemia Complementation Group Proteins / genetics
  • Fanconi Anemia Complementation Group Proteins / metabolism
  • HeLa Cells
  • Hematopoietic Stem Cells / cytology*
  • Hematopoietic Stem Cells / physiology*
  • Humans
  • Mice
  • Mice, Knockout
  • RNA, Small Interfering / genetics
  • RNA, Small Interfering / metabolism
  • RecQ Helicases / genetics
  • RecQ Helicases / metabolism
  • Signal Transduction / physiology*
  • Stromal Cells / cytology
  • Stromal Cells / physiology

Substances

  • Fanconi Anemia Complementation Group Proteins
  • RNA, Small Interfering
  • Bloom syndrome protein
  • RecQ Helicases