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Gene Review

Hba-a1  -  hemoglobin alpha, adult chain 1

Mus musculus

Synonyms: Alpha-globin, Hba, Hba1, Hbat1, Hemoglobin alpha chain, ...
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Disease relevance of Hba-a1


High impact information on Hba-a1

  • We recently described an individual with an inherited form of anemia (alpha-thalassemia) who has a deletion that results in a truncated, widely expressed gene (LUC7L) becoming juxtaposed to a structurally normal alpha-globin gene (HBA2) [6].
  • Introduction of a human alpha-globin transgene rescued these animals from perinatal death thus demonstrating the utility of this murine model in the development of cellular and gene based approaches for treating this human genetic disease [2].
  • One is a member of the mouse alpha-globin gene family, which consists of genes mapping to three different chromosomes [7].
  • Since the rate of initiation of protein synthesis with beta-globin mRNA in rabbit reticulocyte is 30--40% faster than for alpha-globin mRNA, these results imply a possible correlation between the differential rates of initiation with these two mRNAs and the accessibility of the respective AUG initiator codons [8].
  • The structure of a human alpha-globin pseudogene and its relationship to alpha-globin gene duplication [9].

Chemical compound and disease context of Hba-a1


Biological context of Hba-a1


Anatomical context of Hba-a1


Associations of Hba-a1 with chemical compounds

  • In this system, partial inhibition of translational elongation by cycloheximide decreases the beta minor/alpha globin synthetic ratio, whereas partial inhibition of initiation by hemin deficiency increases the beta minor/alpha synthetic ratio [19].
  • These results suggest that the substitution GGA (Gly) to GTA (Val) at codon 26 of the murine alpha-globin gene may directly affect the mobility of alpha-globin in UT-PAGE and the base substitution may be a C3H strain-specific polymorphism [20].
  • It differs from the single kind of alpha globin (chain 1) in C57BL/6 by having alanine rather than glycine at position 78 [21].
  • In vitro translated mYB-1 binds to CCAAT boxes of the MHCIIE alpha, HSVTK and mouse PCNA promoters but not to alpha-globin or human thymidine kinase CCAAT boxes [22].
  • A decrease of alpha-globin mRNA was observed in SA-treated cells, which was restored by the addition of hemin [23].

Physical interactions of Hba-a1

  • Role of AP1/NFE2 binding sites in endogenous alpha-globin gene transcription [24].
  • Characterization and comparison of the human and mouse Dist1/alpha-globin complex reveals a tightly packed multiple gene cluster containing differentially expressed transcription units [25].
  • To address how much CP2 contributes in the regulation of globin gene expression, we measured transcriptional activities of the wild type alpha-globin promoter and its various factor-binding sites mutants in erythroid and nonerythroid cells [26].
  • Targeted analysis of the polysomal RNP complexes revealed that alphaCP is specifically bound to actively translating alpha-globin mRNA [27].
  • Insertion of a c-fos DNA fragment containing the destabilizing element into the alpha-globin 3' UTR confers high instability to the otherwise stable alpha-globin mRNA [28].

Regulatory relationships of Hba-a1


Other interactions of Hba-a1

  • There is a compensatory increase in synthesis of beta minor globin, resulting in a beta minor/alpha globin ratio of 0.75 in the homozygous thalassemic mouse, as compared to 0.2 in the normal homozygous diffuse mouse [19].
  • Properties of the mouse alpha-globin HS-26: relationship to HS-40, the major enhancer of human alpha-globin gene expression [34].
  • Interestingly, binding of EKLF in vivo was also detected in the mouse alpha-like globin locus, at the adult alpha globin promoter and its far upstream regulatory element alpha-MRE (HS26) [35].
  • This finding raises the possibility that zeta-globin production might be wholly or partially redundant in embryos in which the adult alpha-globin is also expressed [29].
  • During HMBA-induced terminal differentiation of antisense CP2 expressing MEL cells, the transcription of endogenous alpha-globin gene was suppressed as expected [36].

Analytical, diagnostic and therapeutic context of Hba-a1


  1. MRG15 regulates embryonic development and cell proliferation. Tominaga, K., Kirtane, B., Jackson, J.G., Ikeno, Y., Ikeda, T., Hawks, C., Smith, J.R., Matzuk, M.M., Pereira-Smith, O.M. Mol. Cell. Biol. (2005) [Pubmed]
  2. Lethal alpha-thalassaemia created by gene targeting in mice and its genetic rescue. Pászty, C., Mohandas, N., Stevens, M.E., Loring, J.F., Liebhaber, S.A., Brion, C.M., Rubin, E.M. Nat. Genet. (1995) [Pubmed]
  3. Inactivation of mouse alpha-globin gene by homologous recombination: mouse model of hemoglobin H disease. Chang, J., Lu, R.H., Xu, S.M., Meneses, J., Chan, K., Pedersen, R., Kan, Y.W. Blood (1996) [Pubmed]
  4. Permanent and panerythroid correction of murine beta thalassemia by multiple lentiviral integration in hematopoietic stem cells. Imren, S., Payen, E., Westerman, K.A., Pawliuk, R., Fabry, M.E., Eaves, C.J., Cavilla, B., Wadsworth, L.D., Beuzard, Y., Bouhassira, E.E., Russell, R., London, I.M., Nagel, R.L., Leboulch, P., Humphries, R.K. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  5. Improvement of erythropoiesis in beta-thalassemic mice by continuous erythropoietin delivery from muscle. Bohl, D., Bosch, A., Cardona, A., Salvetti, A., Heard, J.M. Blood (2000) [Pubmed]
  6. Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease. Tufarelli, C., Stanley, J.A., Garrick, D., Sharpe, J.A., Ayyub, H., Wood, W.G., Higgs, D.R. Nat. Genet. (2003) [Pubmed]
  7. Changes in gene position are accompanied by a change in time of replication. Calza, R.E., Eckhardt, L.A., DelGiudice, T., Schildkraut, C.L. Cell (1984) [Pubmed]
  8. Secondary structure of mouse and rabbit alpha- and beta-globin mRNAs: differential accessibility of alpha and beta initiator AUG codons towards nucleases. Pavlakis, G.N., Lockard, R.E., Vamvakopoulos, N., Rieser, L., RajBhandary, U.L., Vournakis, J.N. Cell (1980) [Pubmed]
  9. The structure of a human alpha-globin pseudogene and its relationship to alpha-globin gene duplication. Proudfoot, N.J., Maniatis, T. Cell (1980) [Pubmed]
  10. The LCR-like alpha-globin positive regulatory element functions as an enhancer in transiently transfected cells during erythroid differentiation. Pondel, M.D., George, M., Proudfoot, N.J. Nucleic Acids Res. (1992) [Pubmed]
  11. Regulated expression of the c-myb and c-myc oncogenes during erythroid differentiation. Kirsch, I.R., Bertness, V., Silver, J., Hollis, G.F. J. Cell. Biochem. (1986) [Pubmed]
  12. Expression profiling and gene discovery in the mouse lens. Wride, M.A., Mansergh, F.C., Adams, S., Everitt, R., Minnema, S.E., Rancourt, D.E., Evans, M.J. Mol. Vis. (2003) [Pubmed]
  13. Localization and characterization of the mouse alpha-globin locus control region. Kielman, M.F., Smits, R., Bernini, L.F. Genomics (1994) [Pubmed]
  14. Cloning and characterization of the mouse alpha globin cluster and a new hypervariable marker. Zhao, Q.Z., Liang, X.L., Mitra, S., Gourdon, G., Alter, B.P. Mamm. Genome (1996) [Pubmed]
  15. Regulation of murine alpha-, beta major-, and beta minor-globin gene expression. Weich, N., Marks, P.A., Rifkind, R.A. Biochem. Biophys. Res. Commun. (1988) [Pubmed]
  16. Sp1 functions in a chromatin-dependent manner to augment human alpha-globin promoter activity. Pondel, M.D., Murphy, S., Pearson, L., Craddock, C., Proudfoot, N.J. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  17. Human embryonic zeta-globin gene expression in mouse-human hybrid erythroid cell lines. Luo, H.Y., Deisseroth, A.B., Chui, D.H. Blood (1995) [Pubmed]
  18. Erythroid cell-specific determinants of alpha-globin mRNA stability. Weiss, I.M., Liebhaber, S.A. Mol. Cell. Biol. (1994) [Pubmed]
  19. Compensatory increase in levels of beta minor globin in murine beta-thalassemia is under translational control. Curcio, M.J., Kantoff, P., Schafer, M.P., Anderson, W.F., Safer, B. J. Biol. Chem. (1986) [Pubmed]
  20. A C3H strain-specific allele (alpha va126) of the murine alpha-globin gene newly detected by UT-PAGE and RT-PCR-SSCP analysis. Sato, H., Nagayoshi, M., Ikawa, Y., Kato, M.V. Mutat. Res. (1996) [Pubmed]
  21. The primary structure of genetic variants of mouse hemoglobin. Popp, R.A., Bailiff, E.G., Skow, L.C., Whitney, J.B. Biochem. Genet. (1982) [Pubmed]
  22. Unusual DNA binding characteristics of an in vitro translation product of the CCAAT binding protein mYB-1. Gai, X.X., Lipson, K.E., Prystowsky, M.B. Nucleic Acids Res. (1992) [Pubmed]
  23. Heme-dependent up-regulation of the alpha-globin gene expression by transcriptional repressor Bach1 in erythroid cells. Tahara, T., Sun, J., Igarashi, K., Taketani, S. Biochem. Biophys. Res. Commun. (2004) [Pubmed]
  24. Role of AP1/NFE2 binding sites in endogenous alpha-globin gene transcription. Loyd, M.R., Okamoto, Y., Randall, M.S., Ney, P.A. Blood (2003) [Pubmed]
  25. Characterization and comparison of the human and mouse Dist1/alpha-globin complex reveals a tightly packed multiple gene cluster containing differentially expressed transcription units. Kielman, M.F., Smits, R., Hof, I., Bernini, L.F. Genomics (1996) [Pubmed]
  26. CP2 binding to the promoter is essential for the enhanced transcription of globin genes in erythroid cells. Chae, J.H., Kim, C.G. Mol. Cells (2003) [Pubmed]
  27. In vivo association of the stability control protein alphaCP with actively translating mRNAs. Ji, X., Kong, J., Liebhaber, S.A. Mol. Cell. Biol. (2003) [Pubmed]
  28. Removal of an mRNA destabilizing element correlates with the increased oncogenicity of proto-oncogene fos. Raymond, V., Atwater, J.A., Verma, I.M. Oncogene Res. (1989) [Pubmed]
  29. Mouse zeta- and alpha-globin genes: embryonic survival, alpha-thalassemia, and genetic background effects. Leder, A., Daugherty, C., Whitney, B., Leder, P. Blood (1997) [Pubmed]
  30. CACCC and GATA-1 sequences make the constitutively expressed alpha-globin gene erythroid-responsive in mouse erythroleukemia cells. Ren, S., Li, J., Atweh, G.F. Nucleic Acids Res. (1996) [Pubmed]
  31. Upregulation of alpha globin promotes apoptotic cell death in the hematopoietic cell line FL5.12. Brecht, K., Simonen, M., Heim, J. Apoptosis (2005) [Pubmed]
  32. Identification of an erythroid-enriched endoribonuclease activity involved in specific mRNA cleavage. Wang, Z., Kiledjian, M. EMBO J. (2000) [Pubmed]
  33. Physical characterization of the purified CCAAT transcription factor, alpha-CP1. Kim, C.G., Sheffery, M. J. Biol. Chem. (1990) [Pubmed]
  34. Properties of the mouse alpha-globin HS-26: relationship to HS-40, the major enhancer of human alpha-globin gene expression. Bouhassira, E.E., Kielman, M.F., Gilman, J., Fabry, M.F., Suzuka, S., Leone, O., Gikas, E., Bernini, L.F., Nagel, R.L. Am. J. Hematol. (1997) [Pubmed]
  35. Chromatin-binding in vivo of the erythroid kruppel-like factor, EKLF, in the murine globin loci. Shyu, Y.C., Wen, S.C., Lee, T.L., Chen, X., Hsu, C.T., Chen, H., Chen, R.L., Hwang, J.L., Shen, C.K. Cell Res. (2006) [Pubmed]
  36. Transcription factor CP2 is crucial in hemoglobin synthesis during erythroid terminal differentiation in vitro. Chae, J.H., Lee, Y.H., Kim, C.G. Biochem. Biophys. Res. Commun. (1999) [Pubmed]
  37. Comparison of cloned mouse alpha- and beta-globin genes: conservation of intervening sequence locations and extragenic homology. Leder, A., Miller, H.I., Hamer, D.H., Seidman, J.G., Norman, B., Sullivan, M., Leder, P. Proc. Natl. Acad. Sci. U.S.A. (1978) [Pubmed]
  38. Developmental analysis of the Hba(th-J) mouse mutation: effects on mouse peri-implantation development and identification of two candidate genes. Hendrey, J., Lin, D., Dziadek, M. Dev. Biol. (1995) [Pubmed]
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