Stem cell transplantation demonstrates that Sox6 represses epsilon y globin expression in definitive erythropoiesis of adult mice

Exp Hematol. 2007 Mar;35(3):358-67. doi: 10.1016/j.exphem.2006.11.009.

Abstract

Sox6, a member of the Sox transcription factor family, is essential for the silencing of epsilon y globin gene expression in definitive erythropoiesis of mice. Homozygous Sox6-null mice are neonatally lethal, precluding analysis at later stages. We created adult mice that are deficient in Sox6 specifically in hematopoietic tissues by transplanting embryonic liver stem cells from Sox6-deficient mice into lethally irradiated congenic wild-type adult mice. The mice receiving mutant stem cells (mutant engrafted) showed high expression levels of epsilon y in bone marrow, spleen, and circulating blood compared with mice receiving wild-type and heterozygous stem cells (control engrafted). The level of expression of epsilon y in circulating blood was directly correlated with the percentage of successful mutant donor cell engraftment. Additionally, the mutant engrafted adult mice showed an increase in erythroid precursor cells in bone marrow, spleen, and blood. Thus, Sox6 continues to function as a major regulator of epsilon y in adult definitive erythropoiesis and is required for normal erythrocyte maturation. Therefore, Sox6 may provide a novel therapeutic target by reactivating epsilon y in patients with hemoglobinopathies such as sickle cell anemia and beta-thalassemia.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • DNA-Binding Proteins / deficiency
  • DNA-Binding Proteins / immunology*
  • Erythroid Cells / immunology
  • Erythropoiesis / genetics*
  • Female
  • Gene Expression Regulation / genetics*
  • Globins / biosynthesis
  • Globins / genetics*
  • Graft Survival
  • High Mobility Group Proteins / deficiency
  • High Mobility Group Proteins / immunology*
  • Liver / cytology
  • Mice
  • Mice, Transgenic
  • Pregnancy
  • Promoter Regions, Genetic / genetics
  • RNA, Messenger / genetics
  • SOXD Transcription Factors
  • Stem Cell Transplantation*
  • Transcription Factors / deficiency
  • Transcription Factors / immunology*
  • Transcription, Genetic
  • Transfection
  • Transplantation Conditioning
  • Transplantation, Homologous

Substances

  • DNA-Binding Proteins
  • High Mobility Group Proteins
  • RNA, Messenger
  • SOXD Transcription Factors
  • Sox6 protein, mouse
  • Transcription Factors
  • Globins