Characterization of the - 16C>G sequence variation in the promoters of both HBG1 and HBG2: Convergent evolution of the human γ-globin genes

Blood Cells, Molecules, and Diseases

Volumn 39, Issue 1, 2007, Pages 70-74

  de Vooght, Karen M K ^a   van Wijk, Richard ^a   Ploos van Amstel, Hans K ^a   van Solinge, Wouter W ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Globin; Gene conversion; HBG1; HBG2; Promoter polymorphism

Indexed keywords

BETA GLOBIN; GUANINE NUCLEOTIDE; HEMOGLOBIN C; HEMOGLOBIN GAMMA CHAIN; PYRIMIDINE NUCLEOTIDE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; CONVERGENT EVOLUTION; DEVELOPMENTAL STAGE; ERYTHROLEUKEMIA CELL; GENE CONVERSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE HOMOLOGY; TATA BOX; TRANSCRIPTION INITIATION SITE;

ADULT; AFRICAN AMERICANS; EVOLUTION, MOLECULAR; GENE EXPRESSION REGULATION; GLOBINS; HEMOGLOBIN C; HOMOZYGOTE; HUMANS; K562 CELLS; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS);

EID: 34248556308     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2007.03.002     Document Type: Article

References (24)

1. Collins F.S., and Weissman S.M. The molecular genetics of human hemoglobin. Prog. Nucleic Acid Res. Mol. Biol. 31 (1984) 315-462
2. Hardison R.C., Chui D.H.K., Giardine B., Riemer C., Patrinos G.P., Anagnou N., Miller W., and Wajcman H. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum. Mutat. 19 (2002) 225-233
3. Wood W.G. Increased HbF in adult life. Bailliere's Clin. Haematol. 6 (1993) 177-213
4. C mutation in Africa. Hum. Genet. 87 (1991) 597-601
5. C-globin gene in blacks. Am. J. Hum. Genet. 37 (1985) 771-777
6. Craig J.E., Sheerin S.M., Barnetson R., and Thein S.L. The molecular basis of HPFH in a British family identified by heteroduplex formation. Br. J. Haematol. 84 (1993) 106-110
7. de Vooght K.M.K., van Wijk R., van Oirschot B.A., Rijksen G., and van Solinge W.W. Pyruvate kinase regulatory element 1 (PKR-RE1) mediates hexokinase gene expression in K562 cells. Blood Cells Mol. Diseases 34 (2005) 186-190
8. McDonagh K.T., Lin H.J., Lowrey C.H., Bodine D.M., and Nienhuis A.W. The upstream region of the human γ-globin gene promoter. Identification and functional analysis of nuclear protein binding sites. J. Biol. Chem. 266 (1991) 11965-11974
9. O'Neill D., Kaysen J., Donovan-Peluso M., Castle M., and Bank A. Protein-DNA interactions upstream from the human A gamma globin gene. Nucleic Acids Res. 18 (1990) 1977-1982
10. Duan Z.J., Fang X., Rohde A., Han H., Stamatoyannopoulos G., and Li Q. Developmental specificity of recruitment of TBP to the TATA box of the human γ-globin gene. Proc. Natl. Acad. Sci. U. S. A. 99 (2002) 5509-5514
11. Aγ-globin gene. J. Biol. Chem. 270 (1995) 12892-12898
12. Hahn S. Structure and mechanism of the RNA polymerase II transcription machinery. Nat. Struct. Mol. Biol. 11 (2004) 394-403
13. Riegel A.T., Remenick J., Wolford R.G., Berard D.S., and Hager G.L. A novel transcriptional activator (PO-B) binds between the TATA box and cap site of the pro-opiomelanocortin gene. Nucleic Acids Res. 18 (1990) 4513-4521
14. Yanai K., Nibu Y., Murakami K., and Fukamizu A. A cis-acting DNA element located between TATA box and transcription initiation site is critical in response to regulatory sequences in human angiotensinogen gene. J. Biol. Chem. 271 (1996) 15981-15986
15. Shen S.H., Slightom J.L., and Smithies O. A history of the human fetal globin gene duplication. Cell 26 (1981) 191-203
16. Fitch D.H.A., Bailey W.J., Tagle D.A., Goodman M., Sieu L., and Slightom J.L. Duplication of the γ-globin gene mediated by L1 long interspersed repetitive elements in an early ancestor of simian primates. Proc. Natl. Acad. Sci. U. S. A. 88 (1991) 7396-7400
17. Papadakis M.N., and Patrinos G.P. Contribution of gene conversion in the evolution of the human β-like globin gene family. Hum. Genet. 104 (1999) 117-125
18. Baltimore D. Gene conversion: some implications for immunoglobulin genes. Cell 24 (1981) 592-594
19. Powers P.A., and Smithies O. Short gene conversions in the human fetal globin gene region: a by-product of chromosome pairing during meiosis?. Genetics 112 (1986) 343-358
20. Aγ-globin gene. Blood 77 (1991) 1124-1125
21. Fucharoen S., Shimizu K., and Fukumaki Y. A novel C-T transition within the distal CCAAT motif of the Gγ-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression. Nucleic Acids Res. 18 (1990) 5245-5253
22. + HPFH. Blood 71 (1988) 807-810
23. Aγ globin gene. Blood 73 (1989) 329-333
24. Patrinos G.P., Kollia P., Loutradi-Anagnostou A., Loukopoulos D., and Papadakis M.N. The Cretan type of non-deletional hereditary persistence of fetal hemoglobin [Aγ-158C → T] results from two independent gene conversion events. Hum. Genet. 102 (1998) 629-634