Genomes and Genes
Gene Symbol: Hba-a1
Description: hemoglobin alpha, adult chain 1
Alias: Hba, Hba1, Hbat1, hemoglobin subunit alpha, alpha 1 globin, alpha globin 1, alpha-globin, haemaglobin alpha 1, hemoglobin alpha chain
- Yu Q, Stamenkovic I. Localization of matrix metalloproteinase 9 to the cell surface provides a mechanism for CD44-mediated tumor invasion. Genes Dev. 1999;13:35-48 pubmed..Our observations indicate that CD44 serves to anchor MMP-9 on the cell surface and define a mechanism for CD44-mediated tumor invasion. ..
- Embury S, Mohandas N, Paszty C, Cooper P, Cheung A. In vivo blood flow abnormalities in the transgenic knockout sickle cell mouse. J Clin Invest. 1999;103:915-20 pubmed
- Elorza A, Hyde B, Mikkola H, Collins S, Shirihai O. UCP2 modulates cell proliferation through the MAPK/ERK pathway during erythropoiesis and has no effect on heme biosynthesis. J Biol Chem. 2008;283:30461-70 pubmed publisher..Together, these results indicate that UCP2 is a regulator of erythropoiesis and suggests that inhibition of UCP2 function may contribute to the development of anemia. ..
- Lynch M, Smith A, De Gobbi M, Flenley M, Hughes J, Vernimmen D, et al. An interspecies analysis reveals a key role for unmethylated CpG dinucleotides in vertebrate Polycomb complex recruitment. EMBO J. 2012;31:317-29 pubmed publisher..Furthermore, our results suggest that a high density of unmethylated CpG dinucleotides is sufficient for vertebrate Polycomb recruitment. This model is supported by analysis of DNA methyltransferase-deficient embryonic stem cells. ..
- Battista S, Pentimalli F, Baldassarre G, Fedele M, Fidanza V, Croce C, et al. Loss of Hmga1 gene function affects embryonic stem cell lympho-hematopoietic differentiation. FASEB J. 2003;17:1496-8 pubmed..In fact, we found that Hmga1-/- ES cells overexpress GATA-1 and that HMGA1 proteins directly control GATA-1 transcription. Taken together, these data indicate that HMGA1 proteins play a prime role in lymphohematopoietic differentiation. ..
- Sato H, Nagayoshi M, Ikawa Y, Kato M. A C3H strain-specific allele (alpha va126) of the murine alpha-globin gene newly detected by UT-PAGE and RT-PCR-SSCP analysis. Mutat Res. 1996;351:125-32 pubmed
- Flint J, Tufarelli C, Peden J, Clark K, Daniels R, Hardison R, et al. Comparative genome analysis delimits a chromosomal domain and identifies key regulatory elements in the alpha globin cluster. Hum Mol Genet. 2001;10:371-82 pubmedWe have cloned, sequenced and annotated segments of DNA spanning the mouse, chicken and pufferfish alpha globin gene clusters and compared them with the corresponding region in man...
- Weiss M, Keller G, Orkin S. Novel insights into erythroid development revealed through in vitro differentiation of GATA-1 embryonic stem cells. Genes Dev. 1994;8:1184-97 pubmed..The approach used here is a paradigm for the phenotypic analysis of targeted mutations affecting hematopoietic development. ..
- Kielman M, Smits R, Hof I, Bernini L. Characterization and comparison of the human and mouse Dist1/alpha-globin complex reveals a tightly packed multiple gene cluster containing differentially expressed transcription units. Genomics. 1996;32:341-51 pubmed
- Shirasawa T, Izumizaki M, Suzuki Y, Ishihara A, Shimizu T, Tamaki M, et al. Oxygen affinity of hemoglobin regulates O2 consumption, metabolism, and physical activity. J Biol Chem. 2003;278:5035-43 pubmed..Surprisingly, mutant mice spontaneously ran twice as far as controls despite mild anemia. The oxygen affinity of hemoglobin may control the basal level of erythropoiesis, tissue O(2) consumption, physical activity, and behavior in mice. ..
- Straub A, Lohman A, Billaud M, Johnstone S, Dwyer S, Lee M, et al. Endothelial cell expression of haemoglobin ? regulates nitric oxide signalling. Nature. 2012;491:473-7 pubmed publisher..we report a new model for the regulation of NO signalling by demonstrating that haemoglobin (Hb) ? (encoded by the HBA1 and HBA2 genes in humans) is expressed in human and mouse arterial endothelial cells and enriched at the ..
- Baur J, Pearson K, Price N, Jamieson H, Lerin C, Kalra A, et al. Resveratrol improves health and survival of mice on a high-calorie diet. Nature. 2006;444:337-42 pubmed..These data show that improving general health in mammals using small molecules is an attainable goal, and point to new approaches for treating obesity-related disorders and diseases of ageing. ..
- Popp R. Hemoglobins of mice: sequence and possible ambiguity at one position of the alpha chain. J Mol Biol. 1967;27:9-16 pubmed
- Russo R, Zucchelli S, Codrich M, Marcuzzi F, Verde C, Gustincich S. Hemoglobin is present as a canonical ?2?2 tetramer in dopaminergic neurons. Biochim Biophys Acta. 2013;1834:1939-43 pubmed publisher..This article is part of a Special Issue entitled: Oxygen Binding and Sensing Proteins. ..
- Miccio A, Blobel G. Role of the GATA-1/FOG-1/NuRD pathway in the expression of human beta-like globin genes. Mol Cell Biol. 2010;30:3460-70 pubmed publisher..These results suggest that, unexpectedly, NuRD is required for FOG-1-dependent activation of adult-type globin gene expression but is dispensable for human gamma-globin silencing in vivo. ..
- Chae J, Kang H, Kim C. The relative cellular levels of CP2a and CP2b potentiates erythroid cell-specific expression of the alpha-globin gene by regulating the nuclear localization of CP2c. Biochem Biophys Res Commun. 2009;380:813-7 pubmed publisher..Our data suggest that CP2b potentiate erythroid cell-specific alpha-globin expression by recruiting CP2c into the nucleus. ..
- Pritchard C, Mecham B, Dumpit R, Coleman I, Bhattacharjee M, Chen Q, et al. Conserved gene expression programs integrate mammalian prostate development and tumorigenesis. Cancer Res. 2009;69:1739-47 pubmed publisher..These results indicate that components of normal developmental processes are active in prostate neoplasia and provide further rationale for exploiting molecular features of organogenesis to understand cancer phenotypes. ..
- Lee J, Yu W, Kumar A, Lee S, Mohan P, Peterhoff C, et al. Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer-related PS1 mutations. Cell. 2010;141:1146-58 pubmed publisher..Defective lysosomal proteolysis represents a basis for pathogenic protein accumulations and neuronal cell death in AD and suggests previously unidentified therapeutic targets. ..
- Zhao Q, Liang X, Mitra S, Gourdon G, Alter B. Cloning and characterization of the mouse alpha globin cluster and a new hypervariable marker. Mamm Genome. 1996;7:749-53 pubmed..The unit sequence of the HVR shares the short core sequence with the HVRs identified in the human alpha-gene cluster. Thus, this HVR may be a valuable evolutionary marker, as well as a useful genetic marker for the mouse. ..
- Muramatsu Y, Taniguchi Y, Yamada T, Konfortov B, Yasue H, Sasaki Y. Chromosomal mapping of calmodulin 1 (CALM1) and alpha-globin 1 genes (HBA1) in the bovine. Anim Biotechnol. 2001;12:137-40 pubmed..Results from the present study should contribute to improvement in map resolution of bovine chromosomes and increase comparative information available on bovine chromosomes. ..
- Straub A, Butcher J, Billaud M, Mutchler S, Artamonov M, Nguyen A, et al. Hemoglobin Î±/eNOS coupling at myoendothelial junctions is required for nitric oxide scavenging during vasoconstriction. Arterioscler Thromb Vasc Biol. 2014;34:2594-600 pubmed publisher..These results identify a novel sequence on Hb Î± that is important for Hb Î±/eNOS complex formation and is critical for nitric oxide signaling at myoendothelial junctions. ..
- Ghanem L, Kromer A, Silverman I, Chatterji P, Traxler E, Penzo Méndez A, et al. The Poly(C) Binding Protein Pcbp2 and Its Retrotransposed Derivative Pcbp1 Are Independently Essential to Mouse Development. Mol Cell Biol. 2016;36:304-19 pubmed publisher..These data further provide direct evidence that Pcbp1, a retrotransposed derivative of Pcpb2, has evolved an essential function(s) in the mammalian genome. ..
- Chang J, Lu R, Lin C, Xu S, Kan Y, Porcu S, et al. Transgenic knockout mice exclusively expressing human hemoglobin S after transfer of a 240-kb betas-globin yeast artificial chromosome: A mouse model of sickle cell anemia. Proc Natl Acad Sci U S A. 1998;95:14886-90 pubmed..These mice have hemolytic anemia, 10% irreversibly sickled cells in their peripheral blood, reticulocytosis, and other phenotypic features of SCA. ..
- Kielman M, Smits R, Bernini L. Localization and characterization of the mouse alpha-globin locus control region. Genomics. 1994;21:431-3 pubmed..This element is localized 26 kb upstream of the mouse embryonic globin gene (Hba-x) and is highly conserved at the protein binding sites...
- Kieran M, Perkins A, Orkin S, Zon L. Thrombopoietin rescues in vitro erythroid colony formation from mouse embryos lacking the erythropoietin receptor. Proc Natl Acad Sci U S A. 1996;93:9126-31 pubmed
- Griffin C, Brennan J, Magnuson T. The chromatin-remodeling enzyme BRG1 plays an essential role in primitive erythropoiesis and vascular development. Development. 2008;135:493-500 pubmed
- Ramamurthy L, Barbour V, Tuckfield A, Clouston D, Topham D, Cunningham J, et al. Targeted disruption of the CP2 gene, a member of the NTF family of transcription factors. J Biol Chem. 2001;276:7836-42 pubmed..These results suggest that LBP-1a/NF2d9 may compensate for loss of CP2 expression in vivo and that further analysis of the role of the NTF family of proteins requires the targeting of the NF2d9 gene. ..
- Tasheva E, Ke A, Deng Y, Jun C, Takemoto L, Koester A, et al. Differentially expressed genes in the lens of mimecan-null mice. Mol Vis. 2004;10:403-16 pubmed..Our results provide insight into the function of mimecan in the lens and enable further characterization of molecular mechanisms by which this protein exerts its biological roles. ..
- Nishioka Y, Leder P. The complete sequence of a chromosomal mouse alpha--globin gene reveals elements conserved throughout vertebrate evolution. Cell. 1979;18:875-82 pubmed
- Fujiwara Y, Browne C, Cunniff K, Goff S, Orkin S. Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1. Proc Natl Acad Sci U S A. 1996;93:12355-8 pubmed..Moreover, the recovery of GATA-1+/- mice from anemia seen at birth provides evidence indicating a role for GATA-1 at the hematopoietic progenitor cell level. ..
- Russell J, Liebhaber S. Reversal of lethal alpha- and beta-thalassemias in mice by expression of human embryonic globins. Blood. 1998;92:3057-63 pubmed..Moreover, the capacity of embryonic globins to functionally replace their adult homologues brings into question the physiologic basis for globin gene switching. ..
- Wilkinson D, Bailes J, Champion J, McMahon A. A molecular analysis of mouse development from 8 to 10 days post coitum detects changes only in embryonic globin expression. Development. 1987;99:493-500 pubmed..c. Thus the only abundant transcripts and corresponding proteins that change over a period of profound morphogenetic change correspond to globins of the newly established blood system. ..
- Leder A, Miller H, Hamer D, Seidman J, Norman B, Sullivan M, et al. Comparison of cloned mouse alpha- and beta-globin genes: conservation of intervening sequence locations and extragenic homology. Proc Natl Acad Sci U S A. 1978;75:6187-91 pubmed..These homologous sequences are located on the 3'-flanking segments of both genes, about 1.5 kilobases from each. ..
- Lewis J, Cobb R, Whitney J. Recombination and genetic polymorphism at the mouse alpha-globin locus. Genomics. 1993;18:432-4 pubmed..Additional mouse strains were studied concurrently to identify RFLPs that may be informative for defining evolutionary relationships and serve as markers to discriminate among different inbred strains as well as different mouse species. ..
- Oakley M, McCutchan T, Anantharaman V, Ward J, Faucette L, Erexson C, et al. Host biomarkers and biological pathways that are associated with the expression of experimental cerebral malaria in mice. Infect Immun. 2008;76:4518-29 pubmed publisher..Our studies greatly enhance the repertoire of host molecules for use as diagnostics and novel therapeutics in CM. ..
- Rujan I, Russu I. Allosteric effects of chloride ions at the intradimeric alpha1beta1 and alpha2beta2 interfaces of human hemoglobin. Proteins. 2002;49:413-9 pubmed..Therefore, the ligand-induced changes at the Hisalpha103(G10) sites are modulated by the allosteric effect of chloride ions on hemoglobin. ..
- Bellet M, Piobbico D, Bartoli D, Castelli M, Pieroni S, Brunacci C, et al. NEDD4 controls the expression of GUCD1, a protein upregulated in proliferating liver cells. Cell Cycle. 2014;13:1902-11 pubmed publisher..Thus, we have characterized expression and function of a ubiquitous protein, GUCD1, which might have a role in regulating normal and abnormal cell growth in the liver. ..
- He Z, Russell J. Antisickling effects of an endogenous human alpha-like globin. Nat Med. 2004;10:365-7 pubmed
- Curtis P, Mantei N, Weissmann C. Characterization and kinetics of synthesis of 15S beta-globin RNA, a putative precursor of beta-globin mRNA. Cold Spring Harb Symp Quant Biol. 1978;42 Pt 2:971-84 pubmed
- Loyd M, Okamoto Y, Randall M, Ney P. Role of AP1/NFE2 binding sites in endogenous alpha-globin gene transcription. Blood. 2003;102:4223-8 pubmed..Thus, we have demonstrated that AP1/NFE2 binding sites in the murine alpha-globin PRE contribute to long-range alpha-globin gene activation. The proteins that mediate this effect remain to be determined. ..
- Tominaga K, Kirtane B, Jackson J, Ikeno Y, Ikeda T, Hawks C, et al. MRG15 regulates embryonic development and cell proliferation. Mol Cell Biol. 2005;25:2924-37 pubmed..These findings demonstrate that MRG15 has an essential role in embryonic development via chromatin remodeling and transcriptional regulation. ..
- Ohsugi M, Hwang S, Butz S, Knowles B, Solter D, Kemler R. Expression and cell membrane localization of catenins during mouse preimplantation development. Dev Dyn. 1996;206:391-402 pubmed
- Storz J, Baze M, Waite J, Hoffmann F, Opazo J, Hayes J. Complex signatures of selection and gene conversion in the duplicated globin genes of house mice. Genetics. 2007;177:481-500 pubmed..The alternative two-locus beta-globin haplotypes are associated with pronounced differences in intraerythrocyte glutathione and nitric oxide metabolism, suggesting a possible mechanism for selection on hemoglobin function. ..
- Trimborn T, Gribnau J, Grosveld F, Fraser P. Mechanisms of developmental control of transcription in the murine alpha- and beta-globin loci. Genes Dev. 1999;13:112-24 pubmed
- Hendrey J, Lin D, Dziadek M. Developmental analysis of the Hba(th-J) mouse mutation: effects on mouse peri-implantation development and identification of two candidate genes. Dev Biol. 1995;172:253-63 pubmedThe Hba(th-J) mouse mutation is a deletion on chromosome 11 that spans the alpha-globin complex and causes alpha-thalassemia in heterozygous animals and in utero death of embryos homozygous for the deletion...
- Leder A, Daugherty C, Whitney B, Leder P. Mouse zeta- and alpha-globin genes: embryonic survival, alpha-thalassemia, and genetic background effects. Blood. 1997;90:1275-82 pubmed..These quantitative differences can potentially be exploited to identify genes important for erythropoiesis. ..
- Fu X, Liu D, Tang X, Liu G, Lv X, Li Y, et al. A conserved, extended chromatin opening within alpha-globin locus during development. Exp Cell Res. 2005;309:174-84 pubmed
- Pavlakis G, Lockard R, Vamvakopoulos N, Rieser L, RajBhandary U, Vournakis J. Secondary structure of mouse and rabbit alpha- and beta-globin mRNAs: differential accessibility of alpha and beta initiator AUG codons towards nucleases. Cell. 1980;19:91-102 pubmed
- Erhart M, Piller K, Weaver S. Polymorphism and gene conversion in mouse alpha-globin haplotypes. Genetics. 1987;115:511-9 pubmed..On the other hand, the coding regions of some genes have accumulated replacement changes that result in distinct alpha-globins. In one instance, these changes appear to reflect positive selection of advantageous mutations. ..
- Biagioli M, Pinto M, Cesselli D, Zaninello M, Lazarevic D, Roncaglia P, et al. Unexpected expression of alpha- and beta-globin in mesencephalic dopaminergic neurons and glial cells. Proc Natl Acad Sci U S A. 2009;106:15454-9 pubmed publisher..Our data suggest that the most famed oxygen-carrying globin is not exclusively restricted to the blood, but it may play a role in the normal physiology of the brain and neurodegenerative diseases. ..
- Leder A, McMenamin J, Fontaine K, Bishop A, Leder P. zeta-/- Thalassemic mice are affected by two modifying loci and display unanticipated somatic recombination leading to inherited variation. Hum Mol Genet. 2005;14:615-25 pubmed..Our results demonstrate that somatic recombination events can be transmitted to subsequent generations. ..
- Kind K, Banwell K, Gebhardt K, Macpherson A, Gauld A, Russell D, et al. Microarray analysis of mRNA from cumulus cells following in vivo or in vitro maturation of mouse cumulus-oocyte complexes. Reprod Fertil Dev. 2013;25:426-38 pubmed publisher..Surprisingly, haemoglobin ? (Hba-a1) was highly expressed in IVV relative to IVM cumulus cells, which was verified by both RT-PCR and western blot ..
- Postel E, Wohlman I, Zou X, Juan T, Sun N, D Agostin D, et al. Targeted deletion of Nm23/nucleoside diphosphate kinase A and B reveals their requirement for definitive erythropoiesis in the mouse embryo. Dev Dyn. 2009;238:775-87 pubmed publisher..We conclude that Nm23/NDPKs play critical roles in definitive erythroid development. Our novel mouse model also links erythropoiesis and nucleotide metabolism. ..
- Visvader J, Fujiwara Y, Orkin S. Unsuspected role for the T-cell leukemia protein SCL/tal-1 in vascular development. Genes Dev. 1998;12:473-9 pubmed..These findings establish a role for SCL in embryonic angiogenesis and argue for critical functions in both embryonic blood and vascular cells, the descendents of the presumptive hemangioblast. ..
- Popp R, Bailiff E, Skow L, Whitney J. The primary structure of genetic variants of mouse hemoglobin. Biochem Genet. 1982;20:199-208 pubmed..CE/J hemoglobin contains a unique kind of alpha globin called chain 5...