Recommended Readings: Stuart H. Orkin M.D. January 6 2017

Friday Lectures

Friday, January 6,  3:45 p.m.

Caspary Auditorium

Stuart H. Orkin   M.D.

David G. Nathan Distinguished Professor of Pediatrics, Dana Farber Institute

The Human Fetal Globin Switch:

A Paradigm for Disease-related Common Genetic Variation in Regulatory Elements

Recommended Readings:

Bauer, Daniel E.; Kamran, Sophia C.; Lessard, Samuel; et al.  An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level.  SCIENCE  342(6155): 253-257    OCT 11 2013  

Galarneau, Genevieve; Palmer, Cameron D.; Sankaran, Vijay G.; et al.  Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation.  NATURE GENETICS   42(12): 1049-1051   DEC 2010

Menzel, Stephan; Thein, Swee Lay.   Genetic architecture of hemoglobin F control. CURRENT OPINION IN HEMATOLOGY   16(3): 179-186   MAY 2009  PLEASE REQUEST FROM MARKUS LIBRARY

He, Yunyan; Lin, Weixiong; Luo, Jianming.  Influences of Genetic Variation on Fetal Hemoglobin. PEDIATRIC HEMATOLOGY AND ONCOLOGY   Volume: 28   Issue: 8   Pages: 708-717   Published:  NOV 2011   PLEASE REQUEST FROM MARKUS LIBRARY.

Orkin, Stuart H.  Recent advances in globin research using genome-wide association studies and gene editing. Annals of the New York Academy of Sciences   1368 : 5-10    2016

Recommended Readings: Jian Xu, Ph.D. September 30, 2013

Epigenetics of Genetic Switches: Micro and Macro Views
Jian Xu, Ph.D.
Division of Hematology/Oncology
Boston Children’s Hospital, HHMI
Harvard Medical School
4:00 p.m., Carson Family Auditorium

Recommended Readings:

Review Papers

Bauer, D. E., Kamran, S. C., & Orkin, S. H. (2012). Reawakening fetal hemoglobin: prospects for new therapies for the β-globin disorders. Blood,120(15), 2945-2953. doi: 10.1182/blood-2012-06-292078

McGrath, K., & Palis, J. (2008). Ontogeny of erythropoiesis in the mammalian embryo. Current topics in developmental biology, 82(07), 1–22. doi:10.1016/S0070-2153(07)00001-4

Sankaran, V. G., Xu, J., & Orkin, S. H. (2010). Advances in the understanding of haemoglobin switching. British journal of haematology, 149(2), 181–194. doi:10.1111/j.1365-2141.2010.08105.x

Thein, S. L., Menzel, S., Lathrop, M., & Garner, C. (2009). Control of fetal hemoglobin: new insights emerging from genomics and clinical implications. Human molecular genetics, 18(R2), R216–223. doi:10.1093/hmg/ddp401

Empirical Articles

Jawaid, K., Wahlberg, K., Thein, S. L., & Best, S. (2010). Binding patterns of BCL11A in the globin and GATA1 loci and characterization of the BCL11A fetal hemoglobin locus. Blood cells, molecules & diseases, 45(2), 140–146. doi:10.1016/j.bcmd.2010.05.006

Sankaran, V. G., Menne, T. F., Xu, J., Akie, T. E., Lettre, G., Van Handel, B., … Orkin, S. H. (2008). Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science, 322(5909), 1839–1842. doi:10.1126/science.1165409

Sankaran, V. G., Xu, J., Ragoczy, T., Ippolito, G. C., Walkley, C. R., Maika, S. D., … Orkin, S. H. (2009). Developmental and species-divergent globin switching are driven by BCL11A. Nature, 460(7259), 1093–1097. doi:10.1038/nature08243

Xu, J., Bauer, D. E., Kerenyi, M. a, Vo, T. D., Hou, S., Hsu, Y.-J., … Orkin, S. H. (2013). Corepressor-dependent silencing of fetal hemoglobin expression by BCL11A. Proceedings of the National Academy of Sciences of the United States of America, 110(16), 6518–6523. doi:10.1073/pnas.1303976110