Xmn I polymorphism associated with concomitant activation of Gγ and Aγ globin gene transcription on a β0-thalassemia chromosome

Blood Cells, Molecules, and Diseases

Volumn 46, Issue 2, 2011, Pages 133-138

  Haj Khelil, Amel ^a,b   Morinière, Madeleine ^a   Laradi, Sandrine ^a,c   Khelif, Abderrahim ^c   Perrin, Pascale ^a,d   Ben Chibani, Jemni ^b   Baklouti, Faouzi ^a  

^a UNIVERSITÉ LYON 1   (France)

^b UNIVERSITY OF MONASTIR   (Tunisia)

^c FARHAT HACHED HOSPITAL   (Tunisia)

^d UNIV MONTPELLIER   (France)

Author keywords

0 thalassemia; A globin; G globin; Fetal hemoglobin; Hemoglobin; MRNA; Polymorphism; Promoter; Real time RT PCR

Indexed keywords

ALPHA GLOBIN; BETA GLOBIN; CYTOSINE; DNA; GAMMA GLOBIN; HEMOGLOBIN; HEMOGLOBIN F; MESSENGER RNA; THYMINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BETA THALASSEMIA; DISEASE SEVERITY; DNA MODIFICATION; FEMALE; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; HAPLOTYPE; HUMAN; HUMAN CELL; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; RETICULOCYTE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADULT; ALPHA-GLOBINS; BETA-GLOBINS; BETA-THALASSEMIA; CHILD; CHROMOSOMES, HUMAN; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; FEMALE; FETAL HEMOGLOBIN; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; HAPLOTYPES; HETEROZYGOTE; HUMANS; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; PROMOTER REGIONS, GENETIC; RETICULOCYTES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANSCRIPTION, GENETIC; TUNISIA;

EID: 79151477346     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2010.11.002     Document Type: Article

References (35)

1. Weatherall D.J., Clegg J.B. The Thalassemia Syndromes 2001, Blackwell Science, Oxford, United Kingdom.
2. Baklouti F., Ouazana R., Gonnet C., Lapillonne A., Delaunay J., Godet J. Beta+-thalassemia in cis of a sickle cell gene: occurrence of a promoter mutation on a beta S chromosome. Blood 1989, 74:1817-1822.
3. Thein S.L. Genetic modifiers of the beta-haemoglobinopathies. Br. J. Haematol. 2008, 141:357-366.
4. Chong S.S., Boehm C.D., Cutting G.R., Higgs D.R. Simplified multiplex-PCR diagnosis of common Southeast Asian deletional determinants of alpha-thalassemia. Clin. Chem. 2000, 46:1692-1695.
5. Perrin P., Bouhassa R., Mselli L., Garguier N., Nigon V.M., Bennani C., Labie D., Trabuchet G. Diversity of sequence haplotypes associated with beta-thalassaemia mutations in Algeria: implications for their origin. Gene 1998, 213:169-177.
6. Haj Khélil A., Deguillien M., Morinière M., Ben Chibani J., Baklouti F. Cryptic splicing sites are differentially utilized in vivo. FEBS J. 2008, 275:1150-1162.
7. Agouti I., Badens C., Abouyoub A., Levy N., Bennani M. Molecular basis of beta-thalassemia in Morocco: possible origins of the molecular heterogeneity. Genet. Test. 2008, 12:563-568.
8. Haj Khelil A., Denden S., Leban N., Daimi H., Lakhdhar R., Lefranc G., Ben Chibani J., Perrin P. Hemoglobinopathies in North Africa: a review. Hemoglobin 2010, 34:1-23.
9. Bank A. Regulation of human fetal hemoglobin: new players, new complexities. Blood 2006, 107:435-443.
10. Chibani J., Vidaud M., Duquesnoy P., Berge-Lefranc J.L., Pirastu M., Ellouze F., Rosa J., Goossens M. The peculiar spectrum of beta-thalassemia genes in Tunisia. Hum. Genet. 1988, 78:190-192.
11. Orkin S.H., Kazazian H.H., Antonarakis S.E., Goff S.C., Boehm C.D., Sexton J.P., Waber P.G., Giardina P.J. Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature 1982, 296:627-631.
12. Galanello R., Meloni A., Gasperini D., Saba L., Cao A., Rosatelli M.C., Perseu L. The repeated sequence (AT)x(T)y upstream to the beta-globin gene is a simple polymorphism. Blood 1993, 81:1974-1975.
13. Diaz-Chico J.C., Yang K.G., Stoming T.A., Efremov D.G., Kutlar A., Kutlar F., Aksoy M., Altay C., Gurgey A., Kilinc Y., et al. Mild and severe beta-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes. Blood 1988, 71:248-251.
14. Labie D., Pagnier J., Lapoumeroulie C., Rouabhi F., Dunda-Belkhodja O., Chardin P., Beldjord C., Wajcman H., Fabry M.E., Nagel R.L. Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients. Proc. Natl Acad. Sci. USA 1985, 82:2111-2114.
15. Thein S.L., Wainscoat J.S., Sampietro M., Old J.M., Cappellini D., Fiorelli G., Modell B., Weatherall D.J. Association of thalassaemia intermedia with a beta-globin gene haplotype. Br. J. Haematol. 1987, 65:367-373.
16. Gilman J.G., Huisman T.H. DNA sequence variation associated with elevated fetal G gamma globin production. Blood 1985, 66:783-787.
17. Ballas S.K., Talacki C.A., Adachi K., Schwartz E., Surrey S., Rappaport E. The Xmn I site (-158, C-T) 5prime; to the G gamma gene: correlation with the Senegalese haplotype and G gamma globin expression. Hemoglobin 1991, 15:393-405.
18. Efremov D.G., Dimovski A.J., Huisman T.H. The -158 (C→T) promoter mutation is responsible for the increased transcription of the 3' gamma gene in the Atlanta type of hereditary persistence of fetal hemoglobin. Blood 1994, 83:3350-3355.
19. Efremov D.G., Dimovski A.J., Sukarova E., Schiliro G., Zisovski N., Efremov G.D., Burrone O.R., Huisman T.H. gamma-mRNA and Hb F levels in beta-thalassaemia. Br. J. Haematol. 1994, 88:311-317.
20. Pace B.S., Zein S. Understanding mechanisms of gamma-globin gene regulation to develop strategies for pharmacological fetal hemoglobin induction. Dev. Dyn. 2006, 235:1727-1737.
21. Chen J.F., Long G.F., Lin W.X., Chen P. Beta-thalassemia mutations and single nucleotide polymorphism at -158 of Ggamma-globin gene associated with altered levels of Hb F in beta-thalassemia heterozygotes. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2004, 21:498-501.
22. Dedoussis G.V., Mandilara G.D., Boussiu M., Loutradis A. HbF production in beta thalassaemia heterozygotes for the IVS-II-1G→A beta(0)-globin mutation. Implication of the haplotype and the (G)gamma-158 C→T mutation on the HbF level. Am. J. Hematol. 2000, 64:151-155.
23. Lemsaddek W., Picanco I., Seuanes F., Mahmal L., Benchekroun S., Khattab M., Nogueira P., Osorio-Almeida L. Spectrum of beta thalassemia mutations and HbF levels in the heterozygous Moroccan population. Am. J. Hematol. 2003, 73:161-168.
24. Stamatoyannopoulos G., Grosveld F. Hemoglobin switching. The Molecular Basis of Blood Disease 2001, 135-183. Saunders, Philadelphia, PA, USA. G. Stamatoyannopoulos, P.W. Majerus, R.M. Perlmutter, H. Varmus (Eds.).
25. Johnson K.D., Christensen H.M., Zhao B., Bresnick E.H. Distinct mechanisms control RNA polymerase II recruitment to a tissue-specific locus control region and a downstream promoter. Mol. Cell 2001, 8:465-471.
26. Palstra R.J., Tolhuis B., Splinter E., Nijmeijer R., Grosveld F., de Laat W. The beta-globin nuclear compartment in development and erythroid differentiation. Nat. Genet. 2003, 35:190-194.
27. Tolhuis B., Palstra R.J., Splinter E., Grosveld F., de Laat W. Looping and interaction between hypersensitive sites in the active beta-globin locus. Mol. Cell 2002, 10:1453-1465.
28. Forget B.G. Molecular basis of hereditary persistence of fetal hemoglobin. Ann. NY Acad. Sci. 1998, 850:38-44.
29. Kukreti R., Dash D., Vineetha K.E., Chakravarty S., Das S.K., De M., Talukder G. Spectrum of beta-thalassemia mutations and their association with allelic sequence polymorphisms at the beta-globin gene cluster in an Eastern Indian population. Am. J. Hematol. 2002, 70:269-277.
30. Papachatzopoulou A., Kourakli A., Makropoulou P., Kakagianne T., Sgourou A., Papadakis M., Athanassiadou A. Genotypic heterogeneity and correlation to intergenic haplotype within high HbF beta-thalassemia intermedia. Eur. J. Haematol. 2006, 76:322-330.
31. Sampietro M., Thein S.L., Contreras M., Pazmany L. Variation of HbF and F-cell number with the G-gamma Xmn I (C-T) polymorphism in normal individuals. Blood 1992, 79:832-833.
32. Goncalves I., Henriques A., Raimundo A., Picanco I., Reis A., Correia Junior E., Santos E., Nogueira P., Osorio-Almeida L. Fetal hemoglobin elevation in Hb Lepore heterozygotes and its correlation with beta globin cluster linked determinants. Am. J. Hematol. 2002, 69:95-102.
33. Felice A.E., Borg J., Pizzuto M., Cassar W., Galdies R., Wettinger S.B., Pulis S., Hunter G.J., Caruana M.R., Farrugia M., Scerri C.A. A review of cis-trans interplay between DNA sequences 5' to the (G)gamma- and beta-globin genes among Hb F-Malta-I heterozygotes/homozygotes and beta-thalassemia homozygotes/compound heterozygotes, and the effects of hydroxyurea on the Hb F/F-erythrocyte; the need for large multicenter trials. Hemoglobin 2007, 31:279-288.
34. Liu L.R., Du Z.W., Zhao H.L., Liu X.L., Huang X.D., Shen J., Ju L.M., Fang F.D., Zhang J.W. T to C substitution at -175 or -173 of the gamma-globin promoter affects GATA-1 and Oct-1 binding in vitro differently but can independently reproduce the hereditary persistence of fetal hemoglobin phenotype in transgenic mice. J. Biol. Chem. 2005, 280:7452-7459.
35. Chakalova L., Osborne C.S., Dai Y.F., Goyenechea B., Metaxotou-Mavromati A., Kattamis A., Kattamis C., Fraser P. The Corfu deltabeta thalassemia deletion disrupts gamma-globin gene silencing and reveals post-transcriptional regulation of HbF expression. Blood 2005, 105:2154-2160.