Developmental and species-divergent globin switching are driven by BCL11A

Carroll, S. B. Evo-devo and an expanding evolutionary synthesis: a genetic theory of morphological evolution. Cell 134, 25–36 (2008)

Hoekstra, H. E. & Coyne, J. A. The locus of evolution: evo devo and the genetics of adaptation. Evolution 61, 995–1016 (2007)

Wallace, H. A. et al. Manipulating the mouse genome to engineer precise functional syntenic replacements with human sequence. Cell 128, 197–209 (2007)

Wilson, M. D. et al. Species-specific transcription in mice carrying human chromosome 21. Science 322, 434–438 (2008)

McGrath, K. & Palis, J. Ontogeny of erythropoiesis in the mammalian embryo. Curr. Top. Dev. Biol. 82, 1–22 (2008)

Wijgerde, M., Grosveld, F. & Fraser, P. Transcription complex stability and chromatin dynamics in vivo . Nature 377, 209–213 (1995)

Peterson, K. R., Navas, P. A., Li, Q. & Stamatoyannopoulos, G. LCR-dependent gene expression in β-globin YAC transgenics: detailed structural studies validate functional analysis even in the presence of fragmented YACs. Hum. Mol. Genet. 7, 2079–2088 (1998)

Porcu, S. et al. The human β globin locus introduced by YAC transfer exhibits a specific and reproducible pattern of developmental regulation in transgenic mice. Blood 90, 4602–4609 (1997)

Peschle, C. et al. Haemoglobin switching in human embryos: asynchrony of ζ→α and ε→γ-globin switches in primitive and definite erythropoietic lineage. Nature 313, 235–238 (1985)

Sloane-Stanley, J., Roberts, N. A., Olivieri, N., Weatherall, D. J. & Wood, W. G. Globin gene expression in Hb Lepore-BAC transgenic mice. Br. J. Haematol. 135, 735–737 (2006)

Pace, B., Li, Q., Peterson, K. & Stamatoyannopoulos, G. α-Amino butyric acid cannot reactivate the silenced γ gene of the β locus YAC transgenic mouse. Blood 84, 4344–4353 (1994)

Papayannopoulou, T., Torrealba de Ron, A., Veith, R., Knitter, G. & Stamatoyannopoulos, G. Arabinosylcytosine induces fetal hemoglobin in baboons by perturbing erythroid cell differentiation kinetics. Science 224, 617–619 (1984)

Weatherall, D. J. et al. Foetal erythropoiesis in human leukaemia. Nature 257, 710–712 (1975)

Kingsley, P. D. et al. “Maturational” globin switching in primary primitive erythroid cells. Blood 107, 1665–1672 (2006)

Fraser, S. T., Isern, J. & Baron, M. H. Maturation and enucleation of primitive erythroblasts during mouse embryogenesis is accompanied by changes in cell-surface antigen expression. Blood 109, 343–352 (2007)

Ragoczy, T., Bender, M. A., Telling, A., Byron, R. & Groudine, M. The locus control region is required for association of the murine β-globin locus with engaged transcription factories during erythroid maturation. Genes Dev. 20, 1447–1457 (2006)

Trimborn, T., Gribnau, J., Grosveld, F. & Fraser, P. Mechanisms of developmental control of transcription in the murine α- and β-globin loci. Genes Dev. 13, 112–124 (1999)

Chada, K., Magram, J. & Costantini, F. An embryonic pattern of expression of a human fetal globin gene in transgenic mice. Nature 319, 685–689 (1986)

Uda, M. et al. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia. Proc. Natl Acad. Sci. USA 105, 1620–1625 (2008)

Lettre, G. et al. DNA polymorphisms at the BCL11A, HBS1L-MYB, and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc. Natl Acad. Sci. USA 105, 11869–11874 (2008)

Menzel, S. et al. A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nature Genet. 39, 1197–1199 (2007)

Sedgewick, A. E. et al. BCL11A is a major HbF quantitative trait locus in three different populations with β-hemoglobinopathies. Blood Cells Mol. Dis. 41, 255–258 (2008)

Sankaran, V. G. et al. Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A . Science 322, 1839–1842 (2008)

Liu, P. et al. Bcl11a is essential for normal lymphoid development. Nature Immunol. 4, 525–532 (2003)

Sankaran, V. G., Orkin, S. H. & Walkley, C. R. Rb intrinsically promotes erythropoiesis by coupling cell cycle exit with mitochondrial biogenesis. Genes Dev. 22, 463–475 (2008)

Zhang, J., Socolovsky, M., Gross, A. W. & Lodish, H. F. Role of Ras signaling in erythroid differentiation of mouse fetal liver cells: functional analysis by a flow cytometry-based novel culture system. Blood 102, 3938–3946 (2003)

Johnson, R. M. et al. Phylogenetic comparisons suggest that distance from the locus control region guides developmental expression of primate β-type globin genes. Proc. Natl Acad. Sci. USA 103, 3186–3191 (2006)

Peterson, K. R. et al. Transgenic mice containing a 248-kb yeast artificial chromosome carrying the human β-globin locus display proper developmental control of human globin genes. Proc. Natl Acad. Sci. USA 90, 7593–7597 (1993)

Harju, S., Navas, P. A., Stamatoyannopoulos, G. & Peterson, K. R. Genome architecture of the human β-globin locus affects developmental regulation of gene expression. Mol. Cell. Biol. 25, 8765–8778 (2005)

Gaensler, K. M., Kitamura, M. & Kan, Y. W. Germ-line transmission and developmental regulation of a 150-kb yeast artificial chromosome containing the human β-globin locus in transgenic mice. Proc. Natl Acad. Sci. USA 90, 11381–11385 (1993)

Strouboulis, J., Dillon, N. & Grosveld, F. Developmental regulation of a complete 70-kb human β-globin locus in transgenic mice. Genes Dev. 6, 1857–1864 (1992)

Chan, I. T. et al. Conditional expression of oncogenic K-ras from its endogenous promoter induces a myeloproliferative disease. J. Clin. Invest. 113, 528–538 (2004)

Braun, B. S. et al. Somatic activation of oncogenic Kras in hematopoietic cells initiates a rapidly fatal myeloproliferative disorder. Proc. Natl Acad. Sci. USA 101, 597–602 (2004)

Garrick, D. et al. Loss of Atrx affects trophoblast development and the pattern of X-inactivation in extraembryonic tissues. PLoS Genet. 2, e58 (2006)

Jasinski, M., Keller, P., Fujiwara, Y., Orkin, S. H. & Bessler, M. GATA1-Cre mediates Piga gene inactivation in the erythroid/megakaryocytic lineage and leads to circulating red cells with a partial deficiency in glycosyl phosphatidylinositol-linked proteins (paroxysmal nocturnal hemoglobinuria type II cells). Blood 98, 2248–2255 (2001)

Walkley, C. R., Fero, M. L., Chien, W. M., Purton, L. E. & McArthur, G. A. Negative cell-cycle regulators cooperatively control self-renewal and differentiation of haematopoietic stem cells. Nature Cell Biol. 7, 172–178 (2005)

Choi, J. W., Kim, Y., Fujino, M. & Ito, M. A new anti-hemoglobin F antibody against synthetic peptides for the detection of F-cell precursors (F-blasts) in bone marrow. Int. J. Hematol. 74, 277–280 (2001)

Bolland, D. J. et al. Antisense intergenic transcription in V(D)J recombination. Nature Immunol. 5, 630–637 (2004)