Human globin knock-in mice complete fetal-to-adult hemoglobin switching in postnatal development

Molecular and Cellular Biology

Volumn 31, Issue 4, 2011, Pages 876-883

  McConnell, Sean C ^a   Huo, Yongliang ^a,b   Liu, Shanrun ^a   Ryan, Thomas M ^a  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b UNIVERSITY OF VIRGINIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN; GAMMA GLOBIN; HEMOGLOBIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; BINDING SITE; ERYTHROID CELL; FEMALE; GENE CONTROL; GENE EXPRESSION; GENE TARGETING; HEMATOPOIESIS; HEMOGLOBIN SYNTHESIS; MOUSE; NONHUMAN; POSTNATAL DEVELOPMENT; PREGNANCY; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ANIMALS; ANIMALS, NEWBORN; BETA-GLOBINS; BINDING SITES; DNA, INTERGENIC; ERYTHROID CELLS; ERYTHROPOIESIS; FEMALE; FETAL HEMOGLOBIN; GAMMA-GLOBINS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENE KNOCK-IN TECHNIQUES; GENES, SWITCH; HUMANS; MALE; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; MODELS, ANIMAL; PREGNANCY; RECOMBINANT PROTEINS;

MUS; MUS MUSCULUS;

EID: 79251543942     PISSN: 02707306     EISSN: 10985549     Source Type: Journal    
DOI: 10.1128/MCB.00725-10     Document Type: Article

References (54)

1. Amoyal, I., and E. Fibach. 2007. Hemoglobin switch in the newborn: a flow cytometry analysis. Neonatology 91:61-68.
2. Behringer, R. R., T. M. Ryan, R. D. Palmiter, R. L. Brinster, and T. M. Townes. 1990. Human gamma- to beta-globin gene switching in transgenic mice. Genes Dev. 4:380-389.
3. Borg, J., et al. 2010. Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. Nat. Genet. 42:801-805.
4. S- globin yeast artificial chromosome: a mouse model of sickle cell anemia. Proc. Natl. Acad. Sci. U. S. A. 95:14886-14890.
5. Ciavatta, D. J., T. M. Ryan, S. C. Farmer, and T. M. Townes. 1995. Mouse model of human beta zero thalassemia: targeted deletion of the mouse beta maj- and beta min-globin genes in embryonic stem cells. Proc. Natl. Acad. Sci. U. S. A. 92:9259-9263.
6. Dillon, N., and F. Grosveld. 1991. Human gamma-globin genes silenced independently of other genes in the beta-globin locus. Nature 350:252-254. (Pubitemid 21912213)
7. Donze, D., T. M. Townes, and J. J. Bieker. 1995. Role of erythroid Kruppel-like factor in human gamma- to beta-globin gene switching. J. Biol. Chem. 270:1955-1959.
8. Enver, T., A. J. Ebens, W. C. Forrester, and G. Stamatoyannopoulos. 1989. The human beta-globin locus activation region alters the developmental fate of a human fetal globin gene in transgenic mice. Proc. Natl. Acad. Sci. U. S. A. 86:7033-7037.
9. Enver, T., et al. 1990. Developmental regulation of human fetal-to-adult globin gene switching in transgenic mice. Nature 344:309-313.
10. Farace, M. G., et al. 1984. The mouse beta h1 gene codes for the z chain of embryonic hemoglobin. J. Biol. Chem. 259:7123-7128.
11. Feng, W. C., C. M. Southwood, and J. J. Bieker. 1994. Analyses of betathalassemia mutant DNA interactions with erythroid Kruppel-like factor (EKLF), an erythroid cell-specific transcription factor. J. Biol. Chem. 269:1493-1500.
12. Ferguson, D. J., S. F. Lee, and P. A. Gordon. 1990. Evaluation of reticulocyte counts by flow cytometry in a routine laboratory. Am. J. Hematol. 33:13-17.
13. Forrester, W. C., C. Thompson, J. T. Elder, and M. Groudine. 1986. A developmentally stable chromatin structure in the human beta-globin gene cluster. Proc. Natl. Acad. Sci. U. S. A. 83:1359-1363.
14. Gaensler, K. M., M. Kitamura, and Y. W. Kan. 1993. Germ-line transmission and developmental regulation of a 150-kb yeast artificial chromosome containing the human beta-globin locus in transgenic mice. Proc. Natl. Acad. Sci. U. S. A. 90:11381-11385.
15. Gale, R. E., J. B. Clegg, and E. R. Huehns. 1979. Human embryonic haemoglobins Gower 1 and Gower 2. Nature 280:162-164.
16. Grosveld, F., G. B. van Assendelft, D. R. Greaves, and G. Kollias. 1987. Position-independent, high-level expression of the human beta-globin gene in transgenic mice. Cell 51:975-985.
17. Hanscombe, O., et al. 1991. Importance of globin gene order for correct developmental expression. Genes Dev. 5:1387-1394. (Pubitemid 21906047)
18. Higgs, D. R. 2004. Gene regulation in hematopoiesis: new lessons from thalassemia. Hematol. Am. Soc. Hematol. Educ. Program 2004:1-13.
19. Higgs, D. R., et al. 1990. A major positive regulatory region located far upstream of the human alpha-globin gene locus. Genes Dev. 4:1588-1601.
20. Huehns, E. R., et al. 1964. Human embryonic haemoglobins. Nature 201:1095-1097.
21. Huo, Y., et al. 2010. Humanized mouse models of Cooley's anemia. Ann. N. Y. Acad. Sci. 1202:45-51.
22. Huo, Y., et al. 2009. Humanized Mouse Model of Cooley's Anemia. J. Biol. Chem. 284:4889-4896.
23. Huo, Y., S. C. McConnell, and T. M. Ryan. 2009. Preclinical transfusion-dependent humanized mouse model of beta thalassemia major. Blood 113:4763-4770.
24. Jamsai, D., et al. 2005. A humanized mouse model for a common beta0- thalassemia mutation. Genomics 85:453-461.
25. Kingsley, P. D., et al. 2006. "Maturational" globin switching in primary primitive erythroid cells. Blood 107:1665-1672.
26. Li, Q., K. R. Peterson, X. Fang, and G. Stamatoyannopoulos. 2002. Locus control regions. Blood 100:3077-3086.
27. Magram, J., K. Chada, and F. Costantini. 1985. Developmental regulation of a cloned adult beta-globin gene in transgenic mice. Nature 315:338-340. (Pubitemid 15044627)
28. Medvinsky, A. L., N. L. Samoylina, A. M. Muller, and E. A. Dzierzak. 1993. An early pre-liver intraembryonic source of CFU-S in the developing mouse. Nature 364:64-67.
29. Menzel, S., et al. 2007. A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nat. Genet. 39:1197-1199.
30. Nozaki, M., et al. 1999. Developmental abnormalities of glycosylphosphatidylinositol- anchor-deficient embryos revealed by Cre/loxP system. Lab. Invest. 79:293-299.
31. Omori, A., O. Tanabe, J. D. Engel, A. Fukamizu, and K. Tanimoto. 2005. Adult stage gamma-globin silencing is mediated by a promoter direct repeat element. Mol. Cell. Biol. 25:3443-3451.
32. Oneal, P. A., et al. 2006. Fetal hemoglobin silencing in humans. Blood 108:2081-2086.
33. Peterson, K. R., et al. 1993. Transgenic mice containing a 248-kb yeast artificial chromosome carrying the human beta-globin locus display proper developmental control of human globin genes. Proc. Natl. Acad. Sci. U. S. A. 90:7593-7597.
34. Pfaffl, M. W. 2001. A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res. 29:e45.
35. Porcu, S., et al. 1997. The human beta globin locus introduced by YAC transfer exhibits a specific and reproducible pattern of developmental regulation in transgenic mice. Blood 90:4602-4609.
36. Poueymirou, W. T., et al. 2007. F0 generation mice fully derived from gene-targeted embryonic stem cells allowing immediate phenotypic analyses. Nat. Biotechnol. 25:91-99.
37. Ryan, T. M., et al. 1989. A single erythroid-specific DNase I super-hypersensitive site activates high levels of human beta-globin gene expression in transgenic mice. Genes Dev. 3:314-323.
38. Ryan, T. M., D. J. Ciavatta, and T. M. Townes. 1997. Knockout-transgenic mouse model of sickle cell disease. Science 278:873-876.
39. Ryan, T. M., C. W. Sun, J. Ren, and T. M. Townes. 2000. Human gammaglobin gene promoter element regulates human beta-globin gene developmental specificity. Nucleic Acids Res. 28:2736-2740.
40. Sankaran, V. G., et al. 2008. Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science 322:1839-1842.
41. Sankaran, V. G., et al. 2009. Developmental and species-divergent globin switching are driven by BCL11A. Nature 460:1093-1097.
42. Socolovsky, M., et al. 2001. Ineffective erythropoiesis in Stat5a(-/-)5b(-/-) mice due to decreased survival of early erythroblasts. Blood 98:3261-3273.
43. Stamatoyannopoulos, G., and A. W. Nienhuis. 2001. Molecular basis of blood diseases, 3rd ed. Saunders, Philadelphia, PA.
44. Townes, T. M., J. B. Lingrel, H. Y. Chen, R. L. Brinster, and R. D. Palmiter. 1985. Erythroid-specific expression of human beta-globin genes in transgenic mice. EMBO J. 4:1715-1723.
45. Trimborn, T., J. Gribnau, F. Grosveld, and P. Fraser. 1999. Mechanisms of developmental control of transcription in the murine alpha- and beta-globin loci. Genes Dev. 13:112-124.
46. Tuan, D., W. Solomon, Q. Li, and I. M. London. 1985. The "beta-like-globin" gene domain in human erythroid cells. Proc. Natl. Acad. Sci. U. S. A. 82:6384-6388.
47. Uda, M., et al. 2008. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proc. Natl. Acad. Sci. U. S. A. 105:1620-1625.
48. Whitelaw, E., S. F. Tsai, P. Hogben, and S. H. Orkin. 1990. Regulated expression of globin chains and the erythroid transcription factor GATA-1 during erythropoiesis in the developing mouse. Mol. Cell. Biol. 10:6596-6606.
49. Wood, W. G., C. Bunch, S. Kelly, Y. Gunn, and G. Breckon. 1985. Control of haemoglobin switching by a developmental clock? Nature 313:320-323.
50. Wu, L. C., et al. 2006. Correction of sickle cell disease by homologous recombination in embryonic stem cells. Blood 108:1183-1188.
51. Xu, J., et al. 2010. Transcriptional silencing of {gamma}-globin by BCL11A involves long-range interactions and cooperation with SOX6. Genes Dev. 24:783-798.
52. Yang, B., et al. 1995. A mouse model for beta 0-thalassemia. Proc. Natl. Acad. Sci. U. S. A. 92:11608-11612.
53. Zhao, Q., et al. 2009. PRMT5-mediated methylation of histone H4R3 recruits DNMT3A, coupling histone and DNA methylation in gene silencing. Nat. Struct. Mol. Biol. 16:304-311.
54. Zhou, D., K. Liu, C. W. Sun, K. M. Pawlik, and T. M. Townes. 2010. KLF1 regulates BCL11A expression and gamma- to beta-globin gene switching. Nat. Genet. 42:742-744.