SEARCH:   Advanced

Prepublished online as a Blood First Edition Paper on July 5, 2002; DOI 10.1182/blood-2002-05-1409. This Article Full Text Full Text (PDF) All Versions of this Article: 2002-05-1409v1 100/10/3450    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Anguita, E. Articles by Wood, W. G. Search for Related Content PubMed PubMed Citation Articles by Anguita, E. Articles by Wood, W. G. Related Collections Red Cells Plenary Papers Gene Expression Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 15 November 2002, Vol. 100, No. 10, pp. 3450-3456 PLENARY PAPER Deletion of the mouse -globin regulatory element (HS 26) has an unexpectedly mild phenotype Eduardo Anguita, Jacqueline A. Sharpe, Jacqueline A. Sloane-Stanley, Cristina Tufarelli, Douglas R. Higgs, and William G. Wood From the Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, United Kingdom. Natural deletions of the region upstream of the human -globin gene cluster, together with expression studies in cell lines and transgenic mice, identified a single element (HS 40) as necessary and perhaps sufficient for high-level expression of the -globin genes. A similar element occupies the corresponding position upstream of the mouse (m) -globin genes (mHS 26) and was thought to have similar functional properties. We knocked out mHS 26 by homologous recombination and observed the surprising result that instead of the expected severe -thalassemia phenotype, the mice had a mild disease. Transcription levels of the mouse genes were reduced by about 50%, but homozygotes were healthy, with normal hemoglobin levels and only mild decreases in mean corpuscular volume and mean corpuscular hemoglobin. These results may indicate differences in the regulation of the -globin clusters in mice and humans or that additional cis-acting elements remain to be characterized in one or both clusters. © 2002 by The American Society of Hematology.   CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: H. P. J. Voon and J. Vadolas Controlling {alpha}-globin: a review of {alpha}-globin expression and its impact on {beta}-thalassemia Haematologica, December 1, 2008; 93(12): 1868 - 1876. [Abstract] [Full Text] [PDF] M. De Gobbi, E. Anguita, J. Hughes, J. A. Sloane-Stanley, J. A. Sharpe, C. M. Koch, I. Dunham, R. J. Gibbons, W. G. Wood, and D. R. Higgs Tissue-specific histone modification and transcription factor binding in {alpha} globin gene expression Blood, December 15, 2007; 110(13): 4503 - 4510. [Abstract] [Full Text] [PDF] A. R. Migliaccio and S. Philipsen Reflections on the European Union Eurythron Network Meeting "Molecular Control of Erythropoiesis," September 22-23, 2005, Istituto Superiore Di Sanita, Rome, Italy Stem Cells, November 1, 2006; 24(11): 2478 - 2482. [Abstract] [Full Text] [PDF] G.-L. Zhou, L. Xin, W. Song, L.-J. Di, G. Liu, X.-S. Wu, D.-P. Liu, and C.-C. Liang Active Chromatin Hub of the Mouse {alpha}-Globin Locus Forms in a Transcription Factory of Clustered Housekeeping Genes. Mol. Cell. Biol., July 1, 2006; 26(13): 5096 - 5105. [Abstract] [Full Text] [PDF] M. De Gobbi, V. Viprakasit, J. R. Hughes, C. Fisher, V. J. Buckle, H. Ayyub, R. J. Gibbons, D. Vernimmen, Y. Yoshinaga, P. de Jong, et al. A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. Science, May 26, 2006; 312(5777): 1215 - 1217. [Abstract] [Full Text] [PDF] V. Viprakasit, C. L. Harteveld, H. Ayyub, J. S. Stanley, P. C. Giordano, W. G. Wood, and D. R. Higgs A novel deletion causing {alpha} thalassemia clarifies the importance of the major human alpha globin regulatory element. Blood, May 1, 2006; 107(9): 3811 - 3812. [Full Text] [PDF] C L Harteveld, A Voskamp, M Phylipsen, N Akkermans, J T den Dunnen, S J White, and P C Giordano Nine unknown rearrangements in 16p13.3 and 11p15.4 causing {alpha}- and {beta}-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification J. Med. Genet., December 1, 2005; 42(12): 922 - 931. [Abstract] [Full Text] [PDF] I. J. Donaldson, M. Chapman, S. Kinston, J. R. Landry, K. Knezevic, S. Piltz, N. Buckley, A. R. Green, and B. Gottgens Genome-wide identification of cis-regulatory sequences controlling blood and endothelial development Hum. Mol. Genet., March 1, 2005; 14(5): 595 - 601. [Abstract] [Full Text] [PDF] K. A. Frazer, L. Pachter, A. Poliakov, E. M. Rubin, and I. Dubchak VISTA: computational tools for comparative genomics Nucleic Acids Res., July 1, 2004; 32(suppl_2): W273 - W279. [Abstract] [Full Text] [PDF] B. Gottgens, C. Broccardo, M.-J. Sanchez, S. Deveaux, G. Murphy, J. R. Gothert, E. Kotsopoulou, S. Kinston, L. Delaney, S. Piltz, et al. The scl +18/19 Stem Cell Enhancer Is Not Required for Hematopoiesis: Identification of a 5' Bifunctional Hematopoietic-Endothelial Enhancer Bound by Fli-1 and Elf-1 Mol. Cell. Biol., March 1, 2004; 24(5): 1870 - 1883. [Abstract] [Full Text] [PDF] S. Pal, A. B. Cantor, K. D. Johnson, T. B. Moran, M. E. Boyer, S. H. Orkin, and E. H. Bresnick Coregulator-dependent facilitation of chromatin occupancy by GATA-1 PNAS, January 27, 2004; 101(4): 980 - 985. [Abstract] [Full Text] [PDF] M. R. Loyd, Y. Okamoto, M. S. Randall, and P. A. Ney Role of AP1/NFE2 binding sites in endogenous {alpha}-globin gene transcription Blood, December 1, 2003; 102(12): 4223 - 4228. [Abstract] [Full Text] [PDF]

	Copyright © 2002 by American Society of Hematology         Online ISSN: 1528-0020