LOCUS NM_000518 626 bp mRNA linear PRI 02-MAR-2005 DEFINITION Homo sapiens hemoglobin, beta (HBB), mRNA. ACCESSION NM_000518 VERSION NM_000518.4 GI:28302128 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 626) AUTHORS He,Z. and Russell,J.E. TITLE Effect of zeta-globin substitution on the O2-transport properties of Hb S in vitro and in vivo JOURNAL Biochem. Biophys. Res. Commun. 325 (4), 1376-1382 (2004) PUBMED 15555579 REMARK GeneRIF: Hb zeta(2)beta(2)(S) exhibits an O(2) affinity as well as a Hill coefficient, Bohr response, and allosteric properties in vitro that are suboptimally suited for physiological O(2) transport in vivo REFERENCE 2 (bases 1 to 626) AUTHORS Teixeira,A., Tahiri-Alaoui,A., West,S., Thomas,B., Ramadass,A., Martianov,I., Dye,M., James,W., Proudfoot,N.J. and Akoulitchev,A. TITLE Autocatalytic RNA cleavage in the human beta-globin pre-mRNA promotes transcription termination JOURNAL Nature 432 (7016), 526-530 (2004) PUBMED 15565159 REMARK GeneRIF: co-transcriptional cleavage process in the human beta-globin gene involves an RNA self-cleaving activity REFERENCE 3 (bases 1 to 626) AUTHORS Zhou,W., Zhao,Q., Sutton,R., Cumming,H., Wang,X., Cerruti,L., Hall,M., Wu,R., Cunningham,J.M. and Jane,S.M. TITLE The role of p22 NF-E4 in human globin gene switching JOURNAL J. Biol. Chem. 279 (25), 26227-26232 (2004) PUBMED 15084587 REMARK GeneRIF: findings indicate that p22 NF-E4 is capable of influencing human globin gene expression in vivo but is incapable of overriding the intrinsic mechanisms governing gamma-gene silencing in this context REFERENCE 4 (bases 1 to 626) AUTHORS Patrinos,G.P., de Krom,M., de Boer,E., Langeveld,A., Imam,A.M., Strouboulis,J., de Laat,W. and Grosveld,F.G. TITLE Multiple interactions between regulatory regions are required to stabilize an active chromatin hub JOURNAL Genes Dev. 18 (12), 1495-1509 (2004) PUBMED 15198986 REMARK GeneRIF: multiple interactions between the locus control region and the beta-globin gene are required to maintain the appropriate spatial configuration in vivo REFERENCE 5 (bases 1 to 626) AUTHORS Davydov,R., Kofman,V., Nocek,J.M., Noble,R.W., Hui,H. and Hoffman,B.M. TITLE Conformational substates of the oxyheme centers in alpha and beta subunits of hemoglobin as disclosed by EPR and ENDOR studies of cryoreduced protein JOURNAL Biochemistry 43 (20), 6330-6338 (2004) PUBMED 15147217 REMARK GeneRIF: Results suggest that hemoglobin alpha and beta chains display two major conformational substates of the oxyheme center. REFERENCE 6 (bases 1 to 626) AUTHORS Talmaci,R., Traeger-Synodinos,J., Kanavakis,E., Coriu,D., Colita,D. and Gavrila,L. TITLE Scanning of beta-globin gene for identification of beta-thalassemia mutation in Romanian population JOURNAL J. Cell. Mol. Med. 8 (2), 232-240 (2004) PUBMED 15256071 REMARK GeneRIF: DNA mutational analysis for beta-thalassemia mutation in Romanian population REFERENCE 7 (bases 1 to 626) AUTHORS Wang,L., Lin,C.M., Brooks,S., Cimbora,D., Groudine,M. and Aladjem,M.I. TITLE The human beta-globin replication initiation region consists of two modular independent replicators JOURNAL Mol. Cell. Biol. 24 (8), 3373-3386 (2004) PUBMED 15060158 REMARK GeneRIF: Results report a detailed analysis of replicator sequences that dictate initiation of DNA replication from the human beta-globin locus. REFERENCE 8 (bases 1 to 626) AUTHORS Keser,I., Sanlioglu,A.D., Manguoglu,E., Guzeloglu Kayisli,O., Nal,N., Sargin,F., Yesilipek,A., Simsek,M., Mendilcioglu,I., Canatan,D. and Luleci,G. TITLE Molecular analysis of beta-thalassemia and sickle cell anemia in Antalya JOURNAL Acta Haematol. 111 (4), 205-210 (2004) PUBMED 15153712 REMARK GeneRIF: in a study of 918 chromosomes for mutations leading to beta-thalassemia and sickle cell anemia in postnatal and prenatal cases, one new Hb variant and one new mutation, Cod 3 (+T) were found. Chromosome abnormalities in fetuses were also documented. REFERENCE 9 (bases 1 to 626) AUTHORS Kaushik,M., Kukreti,R., Grover,D., Brahmachari,S.K. and Kukreti,S. TITLE Hairpin-duplex equilibrium reflected in the A-->B transition in an undecamer quasi-palindrome present in the locus control region of the human beta-globin gene cluster JOURNAL Nucleic Acids Res. 31 (23), 6904-6915 (2003) PUBMED 14627823 REMARK GeneRIF: undecamer quasi- palindromic sequence d(TGGGGACCCCA) (HPA11) and its reported polymorphic (SNP) version d(TGG GGGCCCCA) (HPG11) exist in hairpin-duplex equilibria REFERENCE 10 (bases 1 to 626) AUTHORS Bottardi,S., Aumont,A., Grosveld,F. and Milot,E. TITLE Developmental stage-specific epigenetic control of human beta-globin gene expression is potentiated in hematopoietic progenitor cells prior to their transcriptional activation JOURNAL Blood 102 (12), 3989-3997 (2003) PUBMED 12920025 REMARK GeneRIF: developmentally related activation of human beta-like globin genes in human and transgenic mice hematopoietic progenitor cells is preceded by a wave of gene-specific histone H3 hyperacetylation and K4 dimethylation REFERENCE 11 (bases 1 to 626) AUTHORS Tanimoto,K., Sugiura,A., Omori,A., Felsenfeld,G., Engel,J.D. and Fukamizu,A. TITLE Human beta-globin locus control region HS5 contains CTCF- and developmental stage-dependent enhancer-blocking activity in erythroid cells JOURNAL Mol. Cell. Biol. 23 (24), 8946-8952 (2003) PUBMED 14645507 REMARK GeneRIF: beta-globin locus control region HS5 contains enhancer-blocking (insulator) activity that is both CTCF and developmental stage dependent REFERENCE 12 (bases 1 to 626) AUTHORS Cappabianca,M.P., Foglietta,E., Grisanti,P., Mastropietro,F., Russo,L., Amato,A., Felicetti,L. and Bianco,I. TITLE Differential segregation of beta+ IVS-I-110 (G --> A), A(gamma) -117 (G-->A), and G(gamma) -158 (C --> T) mutations in members of an Albanian family JOURNAL Hemoglobin 27 (4), 267-274 (2003) PUBMED 14649320 REMARK GeneRIF: in an Albanian family, two mutations of the gamma-globin promoter (for both HBG1 and HBG2) are assoicated in trans with a beta thal point mutation, that results in increased levels of HbF REFERENCE 13 (bases 1 to 626) AUTHORS Lacan,P., Ponceau,B., Aubry,M. and Francina,A. TITLE Mild Hb S-beta(+)-thalassemia with a deletion of five nucleotides at the polyadenylation site of the beta-globin gene JOURNAL Hemoglobin 27 (4), 257-259 (2003) PUBMED 14649318 REMARK GeneRIF: sequence deletion at polyadenylation site was found in woman with E coli septicemia. Report shows that for this mutation, functional iron deficiency can be found during inflammatory responses REFERENCE 14 (bases 1 to 626) AUTHORS Walker,L., McFarlane,A., Patterson,M., Eng,B. and Waye,J.S. TITLE Hb Castilla [beta32(B14)Leu --> Arg] caused by a de novo mutation JOURNAL Hemoglobin 27 (4), 253-256 (2003) PUBMED 14649317 REMARK GeneRIF: Hb Castill hemogloin mutation was observed in a child, but in neither parent, suggesting the mutation occured De Nova. The father carries a triplicated alpha globin gene. REFERENCE 15 (bases 1 to 626) AUTHORS Miyazaki,A., Nakanishi,T., Shimizu,A., Ninomiya,K., Nishimura,S. and Imai,K. TITLE Hb Buzen [beta138(H16)Ala --> Thr (g.1395 G -->A)]: a new beta chain variant JOURNAL Hemoglobin 27 (4), 243-247 (2003) PUBMED 14649315 REMARK GeneRIF: new variant (Hb Buzen) with point mutation at codon 138 was isolated, sequenced, and characterized. RBC parameters and isopropanol statibility test and oxygen binding were normal. REFERENCE 16 (bases 1 to 626) AUTHORS Hoyer,J.D., Weinhold,J., Mailhot,E., Alter,D., McCormick,D.J., Snow,K., Kubik,K.S., Holmes,M.W. and Fairbanks,V.F. TITLE Three new hemoglobin variants with abnormal oxygen affinity: Hb Saratoga Springs [alpha40(C5)Lys --> Asn (alpha1)], Hb Santa Clara [beta97(FG4)His --> Asn], and Hb Sparta [beta103(G5)Phe --> Val] JOURNAL Hemoglobin 27 (4), 235-241 (2003) PUBMED 14649314 REMARK GeneRIF: Point mutations reported for two new variant associated with erythrocytosis; quaternary protein structures and oxygen binding are discussed REFERENCE 17 (bases 1 to 626) AUTHORS Kim,A. and Dean,A. TITLE A human globin enhancer causes both discrete and widespread alterations in chromatin structure JOURNAL Mol. Cell. Biol. 23 (22), 8099-8109 (2003) PUBMED 14585970 REMARK GeneRIF: nucleosome remodeling and covalent histone modification mediated by the beta-globin locus control region HS2 enhancer at nucleosome-level resolution REFERENCE 18 (bases 1 to 626) AUTHORS Wai,A.W., Gillemans,N., Raguz-Bolognesi,S., Pruzina,S., Zafarana,G., Meijer,D., Philipsen,S. and Grosveld,F. TITLE HS5 of the human beta-globin locus control region: a developmental stage-specific border in erythroid cells JOURNAL EMBO J. 22 (17), 4489-4500 (2003) PUBMED 12941700 REMARK GeneRIF: HS5 of the beta-globin locus control region is a developmental stage-specific border in erythroid cells. REFERENCE 19 (bases 1 to 626) AUTHORS Webster,M.T., Clegg,J.B. and Harding,R.M. TITLE Common 5' beta-globin RFLP haplotypes harbour a surprising level of ancestral sequence mosaicism JOURNAL Hum. Genet. 113 (2), 123-139 (2003) PUBMED 12736816 REMARK GeneRIF: analyses show, while one common haplotype in a block of high linkage disequilibrium represents a long segment from a single ancestral chromosome, others are mosaics of short segments from multiple ancestors related in genealogies of unsuspected complexity REFERENCE 20 (bases 1 to 626) AUTHORS Ostermeier,G.C., Liu,Z., Martins,R.P., Bharadwaj,R.R., Ellis,J., Draghici,S. and Krawetz,S.A. TITLE Nuclear matrix association of the human beta-globin locus utilizing a novel approach to quantitative real-time PCR JOURNAL Nucleic Acids Res. 31 (12), 3257-3266 (2003) PUBMED 12799453 REMARK GeneRIF: Nuclear matrix association of the beta-globin locus. REFERENCE 21 (bases 1 to 626) AUTHORS Gaensler,K.M., Zhang,Z., Lin,C., Yang,S., Hardt,K. and Flebbe-Rehwaldt,L. TITLE Sequences in the (A)gamma-delta intergenic region are not required for stage-specific regulation of the human beta-globin gene locus JOURNAL Proc. Natl. Acad. Sci. U.S.A. 100 (6), 3374-3379 (2003) PUBMED 12629213 REMARK GeneRIF: regulatory sequences required for activation and silencing of the beta-globin gene family during ontogeny reside proximally to the genes and immediately 5' to the gamma- and beta-globin genes REFERENCE 22 (bases 1 to 626) AUTHORS Rujan,I.N. and Russu,I.M. TITLE Allosteric effects of chloride ions at the intradimeric alpha1beta1 and alpha2beta2 interfaces of human hemoglobin JOURNAL Proteins 49 (3), 413-419 (2002) PUBMED 12360531 REMARK GeneRIF: Allosteric effects of chloride ions at the interfaces between the alphabeta dimers. REFERENCE 23 (bases 1 to 626) AUTHORS Routledge,S.J. and Proudfoot,N.J. TITLE Definition of transcriptional promoters in the human beta globin locus control region JOURNAL J. Mol. Biol. 323 (4), 601-611 (2002) PUBMED 12419253 REMARK GeneRIF: Definition of transcriptional promoters in the human beta globin locus control region REFERENCE 24 (bases 1 to 626) AUTHORS Stevens,A., Wang,Y., Bremer,K., Zhang,J., Hoepfner,R., Antoniou,M., Schoenberg,D.R. and Maquat,L.E. TITLE Beta -Globin mRNA decay in erythroid cells: UG site-preferred endonucleolytic cleavage that is augmented by a premature termination codon JOURNAL Proc. Natl. Acad. Sci. U.S.A. 99 (20), 12741-12746 (2002) PUBMED 12242335 REMARK GeneRIF: beta-globin is degraded with an endonuclease with preference for UG dinucleotides REFERENCE 25 (bases 1 to 626) AUTHORS Agarwal,G., Wang,J.C., Kwong,S., Cohen,S.M., Ferrone,F.A., Josephs,R. and Briehl,R.W. TITLE Sickle hemoglobin fibers: mechanisms of depolymerization JOURNAL J. Mol. Biol. 322 (2), 395-412 (2002) PUBMED 12217699 REMARK GeneRIF: examination of the depolymerization of hemoglobin (Hb) S fibers in the presence of CO by using photolysis of COHbS to create and isolate individual fibers, then removing photolysis to induce depolymerization REFERENCE 26 (bases 1 to 626) AUTHORS De Angioletti,M., Lacerra,G., Boletinio,E., Di Noce,F., Musollino,G. and Carestia,C. TITLE Beta- and alpha-globin genotypes in Albanian patients affected by beta-globin gene disorders JOURNAL Haematologica 87 (9), 1002-1003 (2002) PUBMED 12217813 REMARK GeneRIF: genotypes in Albanian patients affected by beta-globin gene disorders REFERENCE 27 (bases 1 to 626) AUTHORS Li,Q., Zhang,M., Han,H., Rohde,A. and Stamatoyannopoulos,G. TITLE Evidence that DNase I hypersensitive site 5 of the human beta-globin locus control region functions as a chromosomal insulator in transgenic mice JOURNAL Nucleic Acids Res. 30 (11), 2484-2491 (2002) PUBMED 12034837 REMARK GeneRIF: Evidence that DNase I hypersensitive site 5 of the human beta-globin locus control region functions as a chromosomal insulator in transgenic mice REFERENCE 28 (bases 1 to 626) AUTHORS Farrell,C.M., West,A.G. and Felsenfeld,G. TITLE Conserved CTCF insulator elements flank the mouse and human beta-globin loci JOURNAL Mol. Cell. Biol. 22 (11), 3820-3831 (2002) PUBMED 11997516 REMARK GeneRIF: Conserved CTCF insulator elements flank the mouse and human beta-globin loci. REFERENCE 29 (bases 1 to 626) AUTHORS Jennings,T.M. and McDonald,M.J. TITLE Esterification of the propionate groups promotes alpha/beta hemoglobin chain homogeneity of CN-hemin binding JOURNAL Biochem. Biophys. Res. Commun. 293 (5), 1354-1357 (2002) PUBMED 12054662 REMARK GeneRIF: Esterification of the propionate groups promotes alpha/beta hemoglobin chain homogeneity of CN-hemin binding REFERENCE 30 (bases 1 to 626) AUTHORS Adachi,K., Zhao,Y. and Surrey,S. TITLE Assembly of human hemoglobin (Hb) beta- and gamma-globin chains expressed in a cell-free system with alpha-globin chains to form Hb A and Hb F JOURNAL J. Biol. Chem. 277 (16), 13415-13420 (2002) PUBMED 11827978 REMARK GeneRIF: Assembly of human hemoglobin (Hb) beta- and gamma-globin chains expressed in a cell-free system with alpha-globin chains to form Hb A and Hb F. REFERENCE 31 (bases 1 to 626) AUTHORS Navas,P.A., Li,Q., Peterson,K.R., Swank,R.A., Rohde,A., Roy,J. and Stamatoyannopoulos,G. TITLE Activation of the beta-like globin genes in transgenic mice is dependent on the presence of the beta-locus control region JOURNAL Hum. Mol. Genet. 11 (8), 893-903 (2002) PUBMED 11971871 REMARK GeneRIF: determining if the locus control region is required for globin gene activation REFERENCE 32 (bases 1 to 626) AUTHORS Chase,M.B., Fu,S., Haga,S.B., Davenport,G., Stevenson,H., Do,K., Morgan,D., Mah,A.L. and Berg,P.E. TITLE BP1, a homeodomain-containing isoform of DLX4, represses the beta-globin gene JOURNAL Mol. Cell. Biol. 22 (8), 2505-2514 (2002) PUBMED 11909945 REMARK GeneRIF: BP1, a homeodomain-containing isoform of DLX4, represses the beta-globin gene. REFERENCE 33 (bases 1 to 626) AUTHORS May,C., Rivella,S., Chadburn,A. and Sadelain,M. TITLE Successful treatment of murine beta-thalassemia intermedia by transfer of the human beta-globin gene JOURNAL Blood 99 (6), 1902-1908 (2002) PUBMED 11877258 REMARK GeneRIF: Successful treatment of murine beta-thalassemia intermedia by transfer of the human beta-globin gene. REFERENCE 34 (bases 1 to 626) AUTHORS Bordin,S., Crespi,V.G., Duarte,A.S., Basseres,D.S., Melo,M.B., Vieira,A.P., Saad,S.T. and Costa,F.F. TITLE DNAase I hypersensitive site 3' to the beta-globin gene cluster contains a TAA insertion specific for beta(S)-Benin haplotype JOURNAL Haematologica 87 (3), 246-249 (2002) PUBMED 11869935 REMARK GeneRIF: The beta-globin locus contains more than 20 single-base restriction fragment length polymorphism (RFLP) sites spanning over 80 kb on chromosome 11. HS (hypersensitive site) region in sickle cell anemia we searched in the AT-rich region using SSCP. REFERENCE 35 (bases 1 to 626) AUTHORS Garner,C.P., Tatu,T., Best,S., Creary,L. and Thein,S.L. TITLE Evidence of genetic interaction between the beta-globin complex and chromosome 8q in the expression of fetal hemoglobin JOURNAL Am. J. Hum. Genet. 70 (3), 793-799 (2002) PUBMED 11822023 REMARK GeneRIF: genetic interaction between the beta-globin complex and chromosome 8q in the expression of fetal hemoglobin REFERENCE 36 (bases 1 to 626) AUTHORS Schneider,J.A., Peto,T.E., Boone,R.A., Boyce,A.J. and Clegg,J.B. TITLE Direct measurement of the male recombination fraction in the human beta-globin hot spot JOURNAL Hum. Mol. Genet. 11 (3), 207-215 (2002) PUBMED 11823440 REMARK GeneRIF: Recombination across nine intervals in the human beta-globin gene cluster by single-sperm analysis REFERENCE 37 (bases 1 to 626) AUTHORS Chang,J.G., Liu,H.C., Shih,M.C., Liu,S.C., Chan,W.L. and Tsai,F.J. TITLE Unstable Hb Perth in a Taiwanese subject: a T-->C substitution at codon 32 of the beta-globin gene creates an MspI site JOURNAL Hemoglobin 26 (1), 91-94 (2002) PUBMED 11939520 REFERENCE 38 (bases 1 to 626) AUTHORS Waye,J.S., Walker,L., Patterson,M. and Chui,D.H. TITLE Identification of two new beta-thalassemia splice mutations: IVS-I-1 (G-->C) and IVS-I (-2) (A-->C) JOURNAL Hemoglobin 26 (1), 87-89 (2002) PUBMED 11939519 REFERENCE 39 (bases 1 to 626) AUTHORS Waye,J.S., Walker,L., Lafferty,J., Lemire,E.G. and Chui,D.H. TITLE Dominant beta-thalassemia due to a newly identified frameshift mutation in exon 3 (codon 113, GTG-->Tg) JOURNAL Hemoglobin 26 (1), 83-86 (2002) PUBMED 11939518 REFERENCE 40 (bases 1 to 626) AUTHORS Qualtieri,A., Le,P.M., Pedace,V., Magariello,A. and Brancati,C. TITLE Hb Molfetta [beta126(H4)Val-->Leu, GTG-->CTG]: a new, silent, neutral beta chain variant found in an Italian woman JOURNAL Hemoglobin 26 (1), 7-12 (2002) PUBMED 11939515 REFERENCE 41 (bases 1 to 626) AUTHORS Brennan,S.O., Potter,H.C., Kubala,L.M., Carnoutsos,S.A. and Ferguson,M.M. TITLE Hb Canterbury [beta112(G14)Cys-->Phe]: a new, mildly unstable variant JOURNAL Hemoglobin 26 (1), 67-69 (2002) PUBMED 11939514 REFERENCE 42 (bases 1 to 626) AUTHORS Lacerra,G., Fiorito,M., Pagano,L., Testa,R., Li Volti,G., Magnano,C., Medulla,E. and Caresti,C. TITLE Hb G-San Jose variant levels correlate with alpha-thalassemia genotypes JOURNAL Hemoglobin 26 (1), 59-66 (2002) PUBMED 11939513 REMARK GeneRIF: Hb G-San Jose variant levels correlate with alpha-thalassemia genotypes. REFERENCE 43 (bases 1 to 626) AUTHORS Shaji,R.V., Gerard,N., Krishnamoorthy,R., Srivastava,A. and Chandy,M. TITLE A novel beta-thalassemia mutation in an Asian Indian JOURNAL Hemoglobin 26 (1), 49-57 (2002) PUBMED 11939512 REFERENCE 44 (bases 1 to 626) AUTHORS Nadkarni,A., Sakaguchi,T., Takaku,H., Gorakshakar,A., Phanasgaonkar,S., Colah,R.B., Mohanty,D. and Kiyama,R. TITLE A novel beta0-thalassemia mutation at codon 55 (-A) and a rare 17 bp deletion at codons 126-131 in the Indian population JOURNAL Hemoglobin 26 (1), 41-47 (2002) PUBMED 11939511 REMARK GeneRIF: A novel beta0-thalassemia mutation at codon 55 (-A) and a rare 17 bp deletion at codons 126-131 REFERENCE 45 (bases 1 to 626) AUTHORS El-Latif,M.A., Filon,D., Rund,D., Oppenheim,A. and Kanaan,M. TITLE The beta+-IVS-I-6 (T-->C) mutation accounts for half of the thalassemia chromosomes in the Palestinian populations of the mountain regions JOURNAL Hemoglobin 26 (1), 33-40 (2002) PUBMED 11939510 REMARK GeneRIF: A nonsense mutation at codon 37 (G-->A) was found. Other mutations were: IVS-I-110 (G-->A), frameshift codon 5 (- CT), IVS-I-1 (G-->A), IVS-II-1 (G-->A), Hb S [beta6(A3)Glu-->Val], frameshift codons 8/9 (+G), codon 39 (C-->T), and -30 (T-->A). REFERENCE 46 (bases 1 to 626) AUTHORS Salzano,A.M., Carbone,V., Pagano,L., Buffardi,S., De,R.C. and Pucci,P. TITLE Hb Vila Real [beta36(C2)Pro-->His] in Italy: characterization of the amino acid substitution and the DNA mutation JOURNAL Hemoglobin 26 (1), 21-31 (2002) PUBMED 11939509 REMARK Review article REFERENCE 47 (bases 1 to 626) AUTHORS Prehu,C., Riou,J., Sartelet,I., Prome,D., Claparols,C., Denier,M., Motte,J., Galacteros,F. and Wajcman,H. TITLE Hb O-Tibesti [beta121(GH4)Glu-->Lys; beta11(A8)Val-->Ile], a hemoglobin variant carrying in the same beta chain the substitutions of Hb O-Arab and Hb Hamilton, found in combination with Hb S [beta6(A3)Glu-->Val] JOURNAL Hemoglobin 26 (1), 13-20 (2002) PUBMED 11939508 REFERENCE 48 (bases 1 to 626) AUTHORS Wang,J.C., Turner,M.S., Agarwal,G., Kwong,S., Josephs,R., Ferrone,F.A. and Briehl,R.W. TITLE Micromechanics of isolated sickle cell hemoglobin fibers: bending moduli and persistence lengths JOURNAL J. Mol. Biol. 315 (4), 601-612 (2002) PUBMED 11812133 REMARK GeneRIF: using differential interference contrast microscopy; spontaneous, thermal fluctuations in fiber shape are measured to obtain bending moduli (kappa) and persistence lengths (lambda(p)) REFERENCE 49 (bases 1 to 626) AUTHORS Jetsrisuparb,A., Sanchaisuriya,K., Fucharoen,G., Fucharoen,S., Wiangnon,S. and Komwilaisak,P. TITLE Triple heterozygosity of a hemoglobin variant: hemoglobin Pyrgos with other hemoglobinopathies JOURNAL Int. J. Hematol. 75 (1), 35-39 (2002) PUBMED 11843288 REMARK GeneRIF: Hb Pyrgos is due to a missense mutation in codon 83 (GGC-->GAC, Gly-->Asp. Its presence in a triple heterozygote for Hb CS and alpha-thalassemia has no effect on the other hemoglobins. REFERENCE 50 (bases 1 to 626) AUTHORS Currat,M., Trabuchet,G., Rees,D., Perrin,P., Harding,R.M., Clegg,J.B., Langaney,A. and Excoffier,L. TITLE Molecular analysis of the beta-globin gene cluster in the Niokholo Mandenka population reveals a recent origin of the beta(S) Senegal mutation JOURNAL Am. J. Hum. Genet. 70 (1), 207-223 (2002) PUBMED 11741197 REMARK GeneRIF: molecular analysis of the beta-globin gene cluster in the Niokholo Mandenka population reveals a recent origin of the beta(S) Senegal mutation REFERENCE 51 (bases 1 to 626) AUTHORS Lv,X., Xu,D.D., Liu,D.P., Li,L., Hao,D.L. and Liang,C.C. TITLE High-mobility group protein 2 may be involved in the locus control region regulation of the beta-globin gene cluster JOURNAL Biochem. Cell Biol. 80 (6), 765-770 (2002) PUBMED 12555809 REMARK GeneRIF: High-mobility group protein 2 binds specifically to the first AT-rich region flanking the hypersensitive site 2 core sequence of the human beta-globin gene locus control region REFERENCE 52 (bases 1 to 626) AUTHORS Morris,A. and McDonald,M.J. TITLE Carboxyl-terminal modification alters the subunit interactions and assembly pathways of normal and sickle hemoglobins JOURNAL J. Protein Chem. 20 (8), 611-617 (2001) PUBMED 11890201 REMARK GeneRIF: Results show that enzymatic removal of terminal histidine and penultimate tyrosine residues of beta hemoglobin subunits affects their interaction and assembly properties REFERENCE 53 (bases 1 to 626) AUTHORS Fucharoen,S., Pengjam,Y., Surapot,S., Fucharoen,G. and Sanchaisuriya,K. TITLE Molecular characterization of (deltabeta)(0)/beta(0)-thalassemia and (deltabeta)(0)-thalassemia/hemoglobin E in Thai patients JOURNAL Eur. J. Haematol. 67 (4), 258-262 (2001) PUBMED 11860449 REMARK GeneRIF: The 3' breakpoint of the (deltabeta)(0)-thalassemia deletion in a compound heterozygote lay withing a cluster of L1 repetitive sequences at 4.7 kb 3' to the beta globin gene. REFERENCE 54 (bases 1 to 626) AUTHORS Bandyopadhyay,S., Roychowdhury,K., Chandra,S., Das,M. and Dasgupta,U.B. TITLE Variable severity of beta-thalassemia patients of eastern India: effect of alpha-thalassemia and xmnI polymorphism JOURNAL Clin. Exp. Med. 1 (3), 155-159 (2001) PUBMED 11833853 REMARK GeneRIF: study of mutations on severity in beta-thalassemia patients; effects of alpha-thalassemia REFERENCE 55 (bases 1 to 626) AUTHORS Zhang,X., Medzihradszky,K.F., Cunningham,J., Lee,P.D., Rognerud,C.L., Ou,C.N., Harmatz,P. and Witkowska,H.E. TITLE Characterization of glycated hemoglobin in diabetic patients: usefulness of electrospray mass spectrometry in monitoring the extent and distribution of glycation JOURNAL J. Chromatogr. B Biomed. Sci. Appl. 759 (1), 1-15 (2001) PUBMED 11499613 REFERENCE 56 (bases 1 to 626) AUTHORS Nemeth,M.J., Bodine,D.M., Garrett,L.J. and Lowrey,C.H. TITLE An erythroid-specific chromatin opening element reorganizes beta-globin promoter chromatin structure and augments gene expression JOURNAL Blood Cells Mol. Dis. 27 (4), 767-780 (2001) PUBMED 11778661 REMARK GeneRIF: An erythroid-specific chromatin-opening cis-acting element reorganizes the beta-globin promoter chromatin structure and augments gene expression. REFERENCE 57 (bases 1 to 626) AUTHORS Xu,D.D., Liu,D.P., Ji,X.J., Lv,X. and Liang,C.C. TITLE In vivo DNA-protein interactions at hypersensitive site 3.5 of the human beta-globin locus control region JOURNAL Biochem. Cell Biol. 79 (6), 747-754 (2001) PUBMED 11800015 REMARK GeneRIF: site HS3.5 may play an important role in the regulation of the beta-globin gene cluster REFERENCE 58 (bases 1 to 626) AUTHORS Gladwin,M.T., Ognibene,F.P., Pannell,L.K., Nichols,J.S., Pease-Fye,M.E., Shelhamer,J.H. and Schechter,A.N. TITLE Relative role of heme nitrosylation and beta-cysteine 93 nitrosation in the transport and metabolism of nitric oxide by hemoglobin in the human circulation JOURNAL Proc. Natl. Acad. Sci. U.S.A. 97 (18), 9943-9948 (2000) PUBMED 10954746 REFERENCE 59 (bases 1 to 626) AUTHORS Fullerton,S.M., Bond,J., Schneider,J.A., Hamilton,B., Harding,R.M., Boyce,A.J. and Clegg,J.B. TITLE Polymorphism and divergence in the beta-globin replication origin initiation region JOURNAL Mol. Biol. Evol. 17 (1), 179-188 (2000) PUBMED 10666717 REFERENCE 60 (bases 1 to 626) AUTHORS Badens,C., Martinez di Montemuros,F., Thuret,I., Michel,G., Mattei,J.F., Cappellini,M.D. and Lena-Russo,D. TITLE Molecular basis of haemoglobinopathies and G6PD deficiency in the Comorian population JOURNAL Hematol. J. 1 (4), 264-268 (2000) PUBMED 11920200 REMARK GeneRIF: 31 alleles carrying the betaS mutation, 6 beta-thalassaemic alleles & 17 G6PD alleles, were studied from a group of carriers or affected subjects. Allele frequencies were 3% for haemoglobin S, 1% for beta-thalassaemia trait and 9.5% for G6PD deficiency. REFERENCE 61 (bases 1 to 626) AUTHORS Cabeda,J.M., Correia,C., Estevinho,A., Simoes,C., Amorim,M.L., Pinho,L. and Justica,B. TITLE Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugal JOURNAL Br. J. Haematol. 105 (1), 68-74 (1999) PUBMED 10233364 REFERENCE 62 (bases 1 to 626) AUTHORS Ferranti,P., Sannolo,N., Mamone,G., Fiume,I., Carbone,V., Tornqvist,M., Bergman,A. and Malorni,A. TITLE Structural characterization by mass spectrometry of hemoglobin adducts formed after in vivo exposure to methyl bromide JOURNAL Carcinogenesis 17 (12), 2661-2671 (1996) PUBMED 9006104 REFERENCE 63 (bases 1 to 626) AUTHORS Rahbar,S., Nozari,G., Forrest,G., Gelbart,T., Forman,S.J. and Beutler,E. TITLE A novel intrachromosomal rearrangement in the beta-globin gene found in an African-American family JOURNAL Hemoglobin 19 (6), 375-388 (1995) PUBMED 8718696 REFERENCE 64 (bases 1 to 626) AUTHORS Giardina,B., Messana,I., Scatena,R. and Castagnola,M. TITLE The multiple functions of hemoglobin JOURNAL Crit. Rev. Biochem. Mol. Biol. 30 (3), 165-196 (1995) PUBMED 7555018 REMARK Review article REFERENCE 65 (bases 1 to 626) AUTHORS Wajcman,H., Kister,J., Vasseur,C., Blouquit,Y., Trastour,J.C., Cottenceau,D. and Galacteros,F. TITLE Structure of the EF corner favors deamidation of asparaginyl residues in hemoglobin: the example of Hb La Roche-sur-Yon [beta 81 (EF5) Leu----His] JOURNAL Biochim. Biophys. Acta 1138 (2), 127-132 (1992) PUBMED 1540659 REFERENCE 66 (bases 1 to 626) AUTHORS Higgs,D.R., Vickers,M.A., Wilkie,A.O., Pretorius,I.M., Jarman,A.P. and Weatherall,D.J. TITLE A review of the molecular genetics of the human alpha-globin gene cluster JOURNAL Blood 73 (5), 1081-1104 (1989) PUBMED 2649166 REMARK Review article REFERENCE 67 (bases 1 to 626) AUTHORS Chabot,B., Black,D.L., LeMaster,D.M. and Steitz,J.A. TITLE The 3' splice site of pre-messenger RNA is recognized by a small nuclear ribonucleoprotein JOURNAL Science 230 (4732), 1344-1349 (1985) PUBMED 2933810 REFERENCE 68 (bases 1 to 626) AUTHORS Tuan,D., Solomon,W., Li,Q. and London,I.M. TITLE The 'beta-like-globin' gene domain in human erythroid cells JOURNAL Proc. Natl. Acad. Sci. U.S.A. 82 (19), 6384-6388 (1985) PUBMED 3879975 REFERENCE 69 (bases 1 to 626) AUTHORS Morton,C.C., Kirsch,I.R., Taub,R., Orkin,S.H. and Brown,J.A. TITLE Localization of the beta-globin gene by chromosomal in situ hybridization JOURNAL Am. J. Hum. Genet. 36 (3), 576-585 (1984) PUBMED 6587773 REFERENCE 70 (bases 1 to 626) AUTHORS Grindlay,G.J., Lanyon,W.G., Allan,M. and Paul,J. TITLE Alternative sites of transcription initiation upstream of the canonical cap site in human gamma-globin and beta-globin genes JOURNAL Nucleic Acids Res. 12 (4), 1811-1820 (1984) PUBMED 6701091 REFERENCE 71 (bases 1 to 626) AUTHORS Allan,M., Lanyon,W.G. and Paul,J. TITLE Multiple origins of transcription in the 4.5 Kb upstream of the epsilon-globin gene JOURNAL Cell 35 (1), 187-197 (1983) PUBMED 6194897 REFERENCE 72 (bases 1 to 626) AUTHORS Carlson,D.P. and Ross,J. TITLE Human beta-globin promoter and coding sequences transcribed by RNA polymerase III JOURNAL Cell 34 (3), 857-864 (1983) PUBMED 6194893 REFERENCE 73 (bases 1 to 626) AUTHORS Ley,T.J. and Nienhuis,A.W. TITLE A weak upstream promoter gives rise to long human beta-globin RNA molecules JOURNAL Biochem. Biophys. Res. Commun. 112 (3), 1041-1048 (1983) PUBMED 6303333 REFERENCE 74 (bases 1 to 626) AUTHORS Alan,M., Grindlay,G.J., Stefani,L. and Paul,J. TITLE Epsilon globin gene transcripts originating upstream of the mRNA cap site in K562 cells and normal human embryos JOURNAL Nucleic Acids Res. 10 (17), 5133-5147 (1982) PUBMED 6292831 REFERENCE 75 (bases 1 to 626) AUTHORS Grosveld,F., Busslinger,M., Grosveld,G., Groffen,J., DeKleine,A. and Flavell,R.A. TITLE The structure and expression of the haemoglobin genes JOURNAL Adv. Exp. Med. Biol. 158, 65-80 (1982) PUBMED 6297279 REFERENCE 76 (bases 1 to 626) AUTHORS Moschonas,N., de Boer,E., Grosveld,F.G., Dahl,H.H., Wright,S., Shewmaker,C.K. and Flavell,R.A. TITLE Structure and expression of a cloned beta o thalassaemic globin gene JOURNAL Nucleic Acids Res. 9 (17), 4391-4401 (1981) PUBMED 6272205 REFERENCE 77 (bases 1 to 626) AUTHORS Efstratiadis,A., Posakony,J.W., Maniatis,T., Lawn,R.M., O'Connell,C., Spritz,R.A., DeRiel,J.K., Forget,B.G., Weissman,S.M., Slightom,J.L., Blechl,A.E., Smithies,O., Baralle,F.E., Shoulders,C.C. and Proudfoot,N.J. TITLE The structure and evolution of the human beta-globin gene family JOURNAL Cell 21 (3), 653-668 (1980) PUBMED 6985477 REFERENCE 78 (bases 1 to 626) AUTHORS Lawn,R.M., Efstratiadis,A., O'Connell,C. and Maniatis,T. TITLE The nucleotide sequence of the human beta-globin gene JOURNAL Cell 21 (3), 647-651 (1980) PUBMED 6254664 REFERENCE 79 (bases 1 to 626) AUTHORS Shapiro,R., McManus,M.J., Zalut,C. and Bunn,H.F. TITLE Sites of nonenzymatic glycosylation of human hemoglobin A JOURNAL J. Biol. Chem. 255 (7), 3120-3127 (1980) PUBMED 7358733 REFERENCE 80 (bases 1 to 626) AUTHORS Fritsch,E.F., Lawn,R.M. and Maniatis,T. TITLE Molecular cloning and characterization of the human beta-like globin gene cluster JOURNAL Cell 19 (4), 959-972 (1980) PUBMED 6155216 REFERENCE 81 (bases 1 to 626) AUTHORS Lawn,R.M., Fritsch,E.F., Parker,R.C., Blake,G. and Maniatis,T. TITLE The isolation and characterization of linked delta- and beta-globin genes from a cloned library of human DNA JOURNAL Cell 15 (4), 1157-1174 (1978) PUBMED 728996 REFERENCE 82 (bases 1 to 626) AUTHORS Marotta,C.A., Forget,B.G., Cohne-Solal,M., Wilson,J.T. and Weissman,S.M. TITLE Human beta-globin messenger RNA. I. Nucleotide sequences derived from complementary RNA JOURNAL J. Biol. Chem. 252 (14), 5019-5031 (1977) PUBMED 873928 REFERENCE 83 (bases 1 to 626) AUTHORS Marotta,C.A., Wilson,J.T., Forget,B.G. and Weissman,S.M. TITLE Human beta-globin messenger RNA. III. Nucleotide sequences derived from complementary DNA JOURNAL J. Biol. Chem. 252 (14), 5040-5053 (1977) PUBMED 68958 REFERENCE 84 (bases 1 to 626) AUTHORS Proudfoot,N.J. TITLE Complete 3' noncoding region sequences of rabbit and human beta-globin messenger RNAs JOURNAL Cell 10 (4), 559-570 (1977) PUBMED 67897 REFERENCE 85 (bases 1 to 626) AUTHORS Marotta,C.A., Forget,B.G., Cohen-Solal,M. and Weissman,S.M. TITLE Nucleotide sequence analysis of coding and noncoding regions of human beta-globin mRNA JOURNAL Prog. Nucleic Acid Res. Mol. Biol. 19, 165-175 (1976) PUBMED 1019344 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from L48217.1. On Feb 11, 2003 this sequence version replaced gi:13788565. Summary: The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. COMPLETENESS: full length. FEATURES Location/Qualifiers source 1..626 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="11" /map="11p15.5" gene 1..626 /gene="HBB" /note="synonym: hemoglobin" /db_xref="GeneID:3043" /db_xref="MIM:141900" CDS 51..494 /gene="HBB" /note="hemoglobin beta chain; beta globin chain; haemoglobin A beta chain; go_component: hemoglobin complex [goid 0005833] [evidence NAS]; go_function: heme binding [goid 0020037] [evidence IEA]; go_function: oxygen binding [goid 0019825] [evidence IEA]; go_function: oxygen transporter activity [goid 0005344] [evidence NAS] [pmid 1971109]; go_process: transport [goid 0006810] [evidence IEA]; go_process: oxygen transport [goid 0015671] [evidence IEA]; go_process: oxygen transport [goid 0015671] [evidence NAS]" /codon_start=1 /product="beta globin" /protein_id="NP_000509.1" /db_xref="GI:4504349" /db_xref="CCDS:CCDS7753.1" /db_xref="GeneID:3043" /db_xref="MIM:141900" /translation="MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFE SFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPE NFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH" polyA_signal 602..607 /gene="HBB" polyA_site 626 /gene="HBB" ORIGIN 1 acatttgctt ctgacacaac tgtgttcact agcaacctca aacagacacc atggtgcatc 61 tgactcctga ggagaagtct gccgttactg ccctgtgggg caaggtgaac gtggatgaag 121 ttggtggtga ggccctgggc aggctgctgg tggtctaccc ttggacccag aggttctttg 181 agtcctttgg ggatctgtcc actcctgatg ctgttatggg caaccctaag gtgaaggctc 241 atggcaagaa agtgctcggt gcctttagtg atggcctggc tcacctggac aacctcaagg 301 gcacctttgc cacactgagt gagctgcact gtgacaagct gcacgtggat cctgagaact 361 tcaggctcct gggcaacgtg ctggtctgtg tgctggccca tcactttggc aaagaattca 421 ccccaccagt gcaggctgcc tatcagaaag tggtggctgg tgtggctaat gccctggccc 481 acaagtatca ctaagctcgc tttcttgctg tccaatttct attaaaggtt cctttgttcc 541 ctaagtccaa ctactaaact gggggatatt atgaagggcc ttgagcatct ggattctgcc 601 taataaaaaa catttatttt cattgc //