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BioMed Research International
Volume 2017, Article ID 9496058, 6 pages
https://doi.org/10.1155/2017/9496058
Research Article

SOX6 Downregulation Induces γ-Globin in Human β-Thalassemia Major Erythroid Cells

Department of Hematology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi 530021, China

Correspondence should be addressed to Yongrong Lai; ten.362@gnorgnoyial

Received 2 June 2017; Revised 30 October 2017; Accepted 2 November 2017; Published 28 November 2017

Academic Editor: Wen-Hwa Lee

Copyright © 2017 Jing Li et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. R. Galanello and R. Origa, “Beta-thalassemia,” Orphanet Journal of Rare Diseases, vol. 5, article 11, 2010. View at Publisher · View at Google Scholar · View at Scopus
  2. D. J. Weatherall, “Pathophysiology of thalassaemia,” Baillière's Clinical Haematology, vol. 11, no. 1, pp. 127–146, 1998. View at Publisher · View at Google Scholar · View at Scopus
  3. W. M. Fogarty, T. S. Vedvick, and H. A. Itano, “Absence of Haemoglobin A in an Individual Simultaneously Heterozygous in the Genes for Hereditary Persistence of Foetal Haemoglobin and β‐Thalassemia,” British Journal of Haematology, vol. 26, no. 4, pp. 527–533, 1974. View at Publisher · View at Google Scholar · View at Scopus
  4. H. Rothschild, J. Bickers, and R. Marcus, “Regulation of the β and δ hemoglobin genes, a family with hereditary persistent fetal hemoglobin and β thalassemia,” Acta Haematologica, vol. 56, no. 5, pp. 285–291, 1976. View at Publisher · View at Google Scholar · View at Scopus
  5. V. G. Sankaran and D. G. Nathan, “Reversing the hemoglobin switch,” The New England Journal of Medicine, vol. 363, no. 23, pp. 2258–2260, 2010. View at Publisher · View at Google Scholar · View at Scopus
  6. L. Pevny and M. Placzek, “SOX genes and neural progenitor identity,” Current Opinion in Neurobiology, vol. 15, no. 1, pp. 7–13, 2005. View at Publisher · View at Google Scholar · View at Scopus
  7. B. Dumitriu, M. R. Patrick, J. P. Petschek et al., “Sox6 cell-autonomously stimulates erythroid cell survival, proliferation, and terminal maturation and is thereby an important enhancer of definitive erythropoiesis during mouse development,” Blood, vol. 108, no. 4, pp. 1198–1207, 2006. View at Publisher · View at Google Scholar · View at Scopus
  8. B. Dumitriu, P. Bhattaram, P. Dy et al., “Sox6 is necessary for efficient erythropoiesis in adult mice under physiological and anemia-induced stress conditions,” PLoS ONE, vol. 5, no. 8, Article ID e12088, 2010. View at Publisher · View at Google Scholar · View at Scopus
  9. Z. Yi, O. Cohen-Barak, N. Hagiwara et al., “Sox6 directly silences epsilon globin expression in definitive erythropoiesis.,” PLoS Genetics, vol. 2, no. 2, p. e14, 2006. View at Publisher · View at Google Scholar · View at Scopus
  10. V. G. Sankaran, T. F. Menne, J. Xu et al., “Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A,” Science, vol. 322, no. 5909, pp. 1839–1842, 2008. View at Publisher · View at Google Scholar · View at Scopus
  11. A. Wilber, P. W. Hargrove, Y.-S. Kim et al., “Therapeutic levels of fetal hemoglobin in erythroid progeny of β-thalassemic CD34+ cells after lentiviral vector-mediated gene transfer,” Blood, vol. 117, no. 10, pp. 2817–2826, 2011. View at Publisher · View at Google Scholar · View at Scopus
  12. V. G. Sankaran, J. Xu, T. Ragoczy et al., “Developmental and species-divergent globin switching are driven by BCL11A,” Nature, vol. 460, no. 7259, pp. 1093–1097, 2009. View at Publisher · View at Google Scholar · View at Scopus
  13. J. Xu, V. G. Sankaran, M. Ni et al., “Transcriptional silencing of γ-globin by BCL11A involves long-range interactions and cooperation with SOX6,” Genes & Development, vol. 24, no. 8, pp. 783–789, 2010. View at Publisher · View at Google Scholar · View at Scopus
  14. S. L. Schrier and E. Angelucci, “New strategies in the treatment of the thalassemias,” Annual Review of Medicine, vol. 56, pp. 157–171, 2005. View at Publisher · View at Google Scholar · View at Scopus
  15. S. I. E. Guth and M. Wegner, “Having it both ways: Sox protein function between conservation and innovation,” Cellular and Molecular Life Sciences, vol. 65, no. 19, pp. 3000–3018, 2008. View at Publisher · View at Google Scholar · View at Scopus
  16. J. C. Kiefer, “Back to basics: Sox genes,” Developmental Dynamics, vol. 236, no. 8, pp. 2356–2361, 2007. View at Publisher · View at Google Scholar · View at Scopus
  17. V. Lefebvre, B. Dumitriu, A. Penzo-Méndez, Y. Han, and B. Pallavi, “Control of cell fate and differentiation by Sry-related high-mobility-group box (Sox) transcription factors,” The International Journal of Biochemistry & Cell Biology, vol. 39, no. 12, pp. 2195–2214, 2007. View at Publisher · View at Google Scholar · View at Scopus
  18. C. Cantu', V. Grande, I. Alborelli et al., “A highly conserved SOX6 double binding site mediates SOX6 gene downregulation in erythroid cells,” Nucleic Acids Research, vol. 39, no. 2, pp. 486–501, 2011. View at Publisher · View at Google Scholar
  19. V. Lulli, P. Romania, O. Morsilli et al., “SCF-mediated γ-globin gene expression in adult human erythroid cells is associated with KLF1, BCL11A and SOX6 down-regulation,” Blood Cells, Molecules, and Diseases, vol. 54, no. 1, pp. 1–3, 2015. View at Publisher · View at Google Scholar
  20. F. Connor, E. Wright, P. Denny, P. Koopman, and A. Ashworth, “The Sry-related HMG box-containing gene Sox6 is expressed in the adult testis and developing nervous system of the mouse,” Nucleic Acids Research, vol. 23, no. 17, pp. 3365–3372, 1995. View at Publisher · View at Google Scholar · View at Scopus
  21. P. Smits, P. Li, J. Mandel et al., “The transcription factors L-Sox5 and Sox6 are essential for cartilage formation,” Developmental Cell, vol. 1, no. 2, pp. 277–290, 2001. View at Publisher · View at Google Scholar · View at Scopus
  22. O. Cohen-Barak, Z. Yi, N. Hagiwara, K. Monzen, I. Komuro, and M. H. Brilliant, “Sox6 regulation of cardiac myocyte development,” Nucleic Acids Research, vol. 31, no. 20, pp. 5941–5948, 2003. View at Publisher · View at Google Scholar · View at Scopus
  23. N. Hagiwara, S. E. Klewer, R. A. Samson, D. T. Erickson, M. F. Lyon, and M. H. Brilliant, “Sox6 is a candidate gene for p(100H) myopathy, heart block, and sudden neonatal death,” Proceedings of the National Acadamy of Sciences of the United States of America, vol. 97, no. 8, pp. 4180–4185, 2000. View at Publisher · View at Google Scholar · View at Scopus