Hemoglobin switching's surprise: the versatile transcription factor BCL11A is a master repressor of fetal hemoglobin
作者： Daniel E Bauer , Stuart H Orkin
DOI: 10.1016/J.GDE.2015.08.001
关键词: Transcription factor 、 Genetics 、 Hemoglobin 、 Genome-wide association study 、 Fetal hemoglobin 、 Genome editing 、 Gene 、 Biology 、 Repressor 、 Regulation of gene expression
摘要: The major disorders of β-globin, sickle cell disease and β-thalassemia, may be ameliorated by expression the fetal gene paralog γ-globin. Uncertainty regarding mechanisms repressing hemoglobin in adult stage has served as a puzzle developmental regulation well barrier to rational therapeutic design. Recent genome-wide association studies implicated zinc-finger transcriptional repressor BCL11A regulation. Extensive genetic analyses have validated potent level. Studies exemplify how contextual often substrate for trait-associated common variation. These discoveries suggested novel approaches β-hemoglobin including genome editing.
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sci-hub.se 参考文章(75)
Dewang Zhou, Kaimao Liu, Chiao-Wang Sun, Kevin M Pawlik, Tim M Townes, KLF1 regulates BCL11A expression and gamma- to beta-globin gene switching. Nature Genetics. ,vol. 42, pp. 742- 744 ,(2010) , 10.1038/NG.637
Marie-Catherine Giarratana, Hélène Rouard, Agnès Dumont, Laurent Kiger, Innocent Safeukui, Pierre-Yves Le Pennec, Sabine François, Germain Trugnan, Thierry Peyrard, Tiffany Marie, Séverine Jolly, Nicolas Hebert, Christelle Mazurier, Nathalie Mario, Laurence Harmand, Hélène Lapillonne, Jean-Yves Devaux, Luc Douay, Proof of principle for transfusion of in vitro-generated red blood cells. Blood. ,vol. 118, pp. 5071- 5079 ,(2011) , 10.1182/BLOOD-2011-06-362038
Vijay G. Sankaran, Tobias F. Menne, Jian Xu, Thomas E. Akie, Guillaume Lettre, Ben Van Handel, Hanna K. A. Mikkola, Joel N. Hirschhorn, Alan B. Cantor, Stuart H. Orkin, Human Fetal Hemoglobin Expression Is Regulated by the Developmental Stage-Specific Repressor BCL11A Science. ,vol. 322, pp. 1839- 1842 ,(2008) , 10.1126/SCIENCE.1165409
Beate Peter, Mark Matsushita, Kaori Oda, Wendy Raskind, De novo microdeletion of BCL11A is associated with severe speech sound disorder American Journal of Medical Genetics Part A. ,vol. 164, pp. 2091- 2096 ,(2014) , 10.1002/AJMG.A.36599
Ryo Kurita, Noriko Suda, Kazuhiro Sudo, Kenichi Miharada, Takashi Hiroyama, Hiroyuki Miyoshi, Kenzaburo Tani, Yukio Nakamura, Establishment of Immortalized Human Erythroid Progenitor Cell Lines Able to Produce Enucleated Red Blood Cells PLoS ONE. ,vol. 8, pp. e59890- ,(2013) , 10.1371/JOURNAL.PONE.0059890
Vijay G. Sankaran, Jian Xu, Tobias Ragoczy, Gregory C. Ippolito, Carl R. Walkley, Shanna D. Maika, Yuko Fujiwara, Masafumi Ito, Mark Groudine, M. A. Bender, Philip W. Tucker, Stuart H. Orkin, Developmental and species-divergent globin switching are driven by BCL11A Nature. ,vol. 460, pp. 1093- 1097 ,(2009) , 10.1038/NATURE08243
V. M. INGRAM, Gene Mutations in Human Hæmoglobin: the Chemical Difference Between Normal and Sickle Cell Hæmoglobin Nature. ,vol. 180, pp. 326- 328 ,(1957) , 10.1038/180326A0
Andrew B. Stergachis, Shane Neph, Richard Sandstrom, Eric Haugen, Alex P. Reynolds, Miaohua Zhang, Rachel Byron, Theresa Canfield, Sandra Stelhing-Sun, Kristen Lee, Robert E. Thurman, Shinny Vong, Daniel Bates, Fidencio Neri, Morgan Diegel, Erika Giste, Douglas Dunn, Jeff Vierstra, R. Scott Hansen, Audra K. Johnson, Peter J. Sabo, Matthew S. Wilken, Thomas A. Reh, Piper M. Treuting, Rajinder Kaul, Mark Groudine, M. A. Bender, Elhanan Borenstein, John A. Stamatoyannopoulos, Conservation of trans-acting circuitry during mammalian regulatory evolution Nature. ,vol. 515, pp. 365- 370 ,(2014) , 10.1038/NATURE13972
Cecil M. Benitez, Kun Qu, Takuya Sugiyama, Philip T. Pauerstein, Yinghua Liu, Jennifer Tsai, Xueying Gu, Amar Ghodasara, H. Efsun Arda, Jiajing Zhang, Joseph D. Dekker, Haley O. Tucker, Howard Y. Chang, Seung K. Kim, An Integrated Cell Purification and Genomics Strategy Reveals Multiple Regulators of Pancreas Development PLoS Genetics. ,vol. 10, pp. e1004645- ,(2014) , 10.1371/JOURNAL.PGEN.1004645
Jolanta Grembecka, Shihan He, Aibin Shi, Trupta Purohit, Andrew G Muntean, Roderick J Sorenson, Hollis D Showalter, Marcelo J Murai, Amalia M Belcher, Thomas Hartley, Jay L Hess, Tomasz Cierpicki, Menin-MLL inhibitors reverse oncogenic activity of MLL fusion proteins in leukemia Nature Chemical Biology. ,vol. 8, pp. 277- 284 ,(2012) , 10.1038/NCHEMBIO.773