Validation of a recombinant DNA construct (μLCR and full-length β-globin gene) for quantification of human β-globin expression: Application to mutations in the promoter, intronic, and 5′- and 3′-untranslated regions of the human β-globin gene

Clinical Chemistry

Volumn 48, Issue 10, 2002, Pages 1787-1791

  Irenge, Leonid M ^a   Heusterspreute, Michel ^a   Philippe, Marianne ^a   Derclaye, Isabelle ^a   Robert, Annie ^a   Gala, Jean Luc ^a  

^a Clos Chapelle aux Champs   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN; RECOMBINANT DNA;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ARTICLE; BETA THALASSEMIA; CELL CULTURE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; HUMAN; INTRON; PROMOTER REGION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0036791326     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/48.10.1787     Document Type: Article

References (34)

1. Weatherall DJ, Clegg JB. The thalassemia syndromes, 3rd ed. Oxford: Blackwell Scientific Publications, 1981:148-78.
2. +-thalassemia. Blood 1986;67:547-50.
3. Fei YJ, Stoming TA, Efremov GD, Efremov DG, Battacharia R, Gonzalez-Redondo JM, et al. β-Thalassemia due to a T→A mutation within the ATA box. Biochem Biophys Res Commun 1988;153:741-7.
4. Francès V, Morlé F, Godet J. Functional analysis of the 4 bp deletion identified in the 5′ untranslated region of one of the β-globin genes from a Chinese β-thalassaemic heterozygote. Br J Haematol 1993;84:163-5.
5. Morley BJ, Abbott CA, Wood WG. Regulation of human fetal and adult globin genes in mouse erythroleukemia cells. Blood 1991;78:1355-63.
6. Ho PJ, Sloane-Stanley J, Athanassíadou A, Wood WG, Thein SL. An in vitro system for expression analysis of mutations of the β-globin gene: validation and application to two mutations in the 5′ UTR. Br J Haematol 1999;106:938-47.
7. Skarpidi E, Vassilopoulos G, Li Q, Stamatoyannopoulos G. Novel in vitro assay for detection of pharmacologic inducers of fetal hemoglobin. Blood 2000;96:321-6.
8. Bresnick EH. Tze L. Synergism between hypersensitive sites confers long-range activation by the β-globin locus control region. Proc Natl Acad Sci U S A 1997;94:4566-71.
9. Ellis J. Tan-Un KC, Harper A, Michalovich D, Yannoutsos N, Philipsen S, et al. A dominant chromatin-opening activity in 5′ hypersensitive site 3 of the human β-globin locus control region. EMBO J 1996;15:562-8.
10. Bungert J, Tanimoto K, Patel S, Liu Q, Fear M, Engel JD. Hypersensitive site 2 specifies a unique function within the human β-globin locus control region to stimulate globin gene transcription. Mol Cell Biol 1999;19:3062-72.
11. Igarashi K, Hoshino H, Muto A, Suwabe N, Nishikawa S, Nakauchi H, et al. Multivalent DNA binding complex generated by small Maf and Bach1 as a possible biochemical basis for β-globin locus control region complex. J Biol Chem 1998;273:11783-90.
12. Gonzalez-Redondo JM, Stoming TA, Kutlar A, Kutlar F, Lanclos KD, Howard EF, et al. A C→T substitution at -101 in a conserved DNA sequence of the promoter of the β-globin gene is associated with 'silent' β-thalassemia. Blood 1989;73:1705-11.
13. Öner R, Agarwal S, Dimovski AJ, Efremov GD, Petkov GH, Altay C, et al. The G→A mutation at position +22, 3′ to the cap site of the β-globin gene as a possible cause for a β-thalassemia. Hemoglobin 1991;15:67-76.
14. Badens C, Jassim N, Martini N, Mattei JF, Elion J, Lena-Russo D. Characterization of a new polymorphism, IVS-I-108 (T→C), and a new β-thalassemia mutation -27 (A→T), discovered in the course of a prenatal diagnosis. Hemoglobin 1999;23:339-44.
15. Muniz A, Martinez G, Lavinha J, Pacheco P. β-Thalassaemia in Cubans: novel allele increases the genetic diversity at the HBB locus in the Caribbean. Am J Hematol 2000;64:7-14.
16. +-thalassemic gene. Cell 1982;28:585-93.
17. Athanassiadou A, Papachatzopoulou A, Zoumbos N, Maniatis GM, Gibbs R. A novel β-thalassaemia mutation in the 5′ untranslated region of the β-globin gene. Br J Haematol 1994;88:307-10.
18. Huang ZH, Xu YH, Zeng FY, Wu DF, Ren ZR, Zeng YT. A novel β-thalassaemia mutation: deletion of a 4 bp (-AAAC) in the 5′ transcriptional sequence. Br J Haematol 1991;78:125-6.
19. Basak AN. Özer A, Kirdar B, Akar N. A novel 13 bp deletion in the 3'UTR of the β-globin gene causes β-thalassemia in a Turkish patient. Hemoglobin 1993;17:551-5.
20. Campbell PL, Kulozik AE, Woodham JP, Jones RW. Induction by HMBA and DMSO of genes introduced into mouse erythroleukemia and other cell lines by transient transfection. Genes Dev 1990;4:1252-66.
21. Fleiss JL. The design and analysis of clinical experiments. New-York: John Wiley, 1986:433pp.
22. Maragoudaki E. Kanavakis E. Traeger-Synodinos J, Vrettou C, Tzetis M. Molecular, haematological and clinical studies of the -101C→T substitution of the β-globin gene promoter in 25 β-thalassaemia patients and 45 heterozygotes. Br J Haematol 1999;107:699-706.
23. Baysal E. Ribeiro MLS. Huisman THJ. Binding of nuclear factors to the proximal and distal CACCC motifs of the β-globin gene promoter: implications for the -101C→T "silent" β-thalassemia mutation. Acta Hematol 1994;91:16-20.
24. Dierks P, van Ooyen A, Cochran MD, Dobkin C, Reiser J, Weissmann C. Three regions upstream from the cap site are required for efficient and accurate transcription of the rabbit β-globin gene in mouse 3T6 cells. Cell 1983;32:695-706.
25. Enver T, Zhang J, Anagnou NP, Stamatoyannopoulos G, Papayannopoulou T. Developmental programs of human erythroleukemia cells: globin gene expression and methylation. Mol Cell Biol 1988;8:4917-26.
26. Martin P. Papayannopoulou T. HEL cells: a new human erythroleukemia cell line with spontaneous and induced globin expression. Science 1982;216:1233-5.
27. Hartzog GA, Myers RM. Discrimination among potential activators of the β-globin element by correlation of binding and transcriptional properties. Mol Cell Biol 1993;13:44-56.
28. Miller IJ, Bieker JJ. A novel, erythroid cell-specific murine transcription factor that binds to the CACCC element and is related to the Krüppel family of nuclear proteins. Mol Cell Biol 1993;13:2776-86.
29. Perkins A. Erythroid Kruppel like factor: from fishing expedition to gourmet meal. Int J Biochem Cell Biol 1999;31:1175-92.
30. Rosatelli MC, Faa V, Meloni A, Fiorenza F, Galanello R. Gasperini D, et al. A promoter mutation C→T at position -92, leading to silent β-thalassaemia. Br J Haematol 1995;90:483-5.
31. z polymorphic sequence of βLCRHS-2 region associated with altered levels of HbF. Eur J Hum Genet 1999;7:345-6.
32. Perichon B, Ragusa A, Lapoumeroulie C, Romand A. Moi P, Ikuta T, et al. Inter-ethnic polymorphism of the β-globin locus control region (LCR) in sickle cell anemia patients. Hum Genet 1993;91:464-8.
33. Stuvé LL, Myers RM. A directly repeated sequence in the β-globin promoter regulates transcription in murine erythroleukemia cells. Mol Cell Biol 1990;10:972-81.
34. Huisman THJ, Carver MFH, Baysal E. A syllabus of thalassemia mutations. Augusta, GA: The Sickle Cell Anemia Foundation, 1997:29pp.