A defect in hematopoietic stem cell migration explains the nonrandom X-chromosome inactivation in carriers of Wiskott-Aldrich syndrome

Blood. 2003 Aug 15;102(4):1282-9. doi: 10.1182/blood-2002-07-2099. Epub 2003 May 1.

Abstract

A defect in cell trafficking and chemotaxis plays an important role in the immune deficiency observed in Wiskott-Aldrich syndrome (WAS). In this report, we show that marrow cells from WAS protein (WASP)-deficient mice also have a defect in chemotaxis. Serial transplantation and competitive reconstitution experiments demonstrated that marrow cells, including hematopoietic progenitors and stem cells (HSCs), have decreased homing capacities that were associated with a defect in adhesion to collagen. During development, HSCs migrate from the liver to the marrow and the spleen, prompting us to ask if a defect in HSC homing during development may explain the skewed X-chromosome inactivation in WAS carriers. Preliminary evidence has shown that, in contrast to marrow progenitor cells, fetal liver progenitor cells from heterozygous females had a random X-chromosome inactivation. When fetal liver cells from WASP-carrier females were injected into irradiated recipients, a nonrandom inactivation of the X-chromosome was found at the level of hematopoietic progenitors and HSCs responsible for the short- and long-term hematopoietic reconstitution. Therefore, the mechanism of the skewed X-chromosomal inactivation observed in WAS carriers may be related to a migration defect of WASP-deficient HSCs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actins / antagonists & inhibitors
  • Actins / metabolism
  • Animals
  • Bone Marrow Cells / cytology
  • Bone Marrow Cells / physiology
  • Cell Adhesion / physiology
  • Chemokine CXCL12
  • Chemokines, CXC / pharmacology
  • Chemotaxis / physiology*
  • Collagen / metabolism
  • Cytoskeleton / metabolism
  • Dosage Compensation, Genetic*
  • Female
  • Fluorouracil / pharmacology
  • Glutathione Transferase / metabolism
  • Hematopoietic Stem Cells / cytology*
  • Hematopoietic Stem Cells / physiology*
  • Heterozygote
  • Male
  • Mice
  • Mice, Knockout
  • Proteins / genetics
  • Proteins / metabolism
  • Proteins / physiology*
  • Wiskott-Aldrich Syndrome / genetics*
  • Wiskott-Aldrich Syndrome / mortality
  • Wiskott-Aldrich Syndrome / pathology
  • Wiskott-Aldrich Syndrome Protein
  • cdc42 GTP-Binding Protein / metabolism

Substances

  • Actins
  • Chemokine CXCL12
  • Chemokines, CXC
  • Cxcl12 protein, mouse
  • Proteins
  • Was protein, mouse
  • Wiskott-Aldrich Syndrome Protein
  • Collagen
  • Glutathione Transferase
  • cdc42 GTP-Binding Protein
  • Fluorouracil