Genomes and Genes
Gene Symbol: Hbb-b1
Description: hemoglobin, beta adult major chain
Alias: AA409645, Hbb1, Hbbt1, Hbbt2, MommeD7, beta1, hemoglobin subunit beta-1, beta maj, beta major globin
- Matte A, Low P, Turrini F, Bertoldi M, Campanella M, Spano D, et al. Peroxiredoxin-2 expression is increased in beta-thalassemic mouse red cells but is displaced from the membrane as a marker of oxidative stress. Free Radic Biol Med. 2010;49:457-66 pubmed publisher..Thus, reduced access of Prx2 to the membrane in beta-thal RBCs represents a new factor that could contribute to the oxidative damage characterizing the pathology. ..
- He Z, Russell J. Antisickling effects of an endogenous human alpha-like globin. Nat Med. 2004;10:365-7 pubmed
- Belaoussoff M, Farrington S, Baron M. Hematopoietic induction and respecification of A-P identity by visceral endoderm signaling in the mouse embryo. Development. 1998;125:5009-18 pubmed..Therefore, primitive endoderm signaling is a critical early determinant of hematopoietic and vascular development and plays a decisive role in anterior-posterior patterning during mouse embryogenesis. ..
- Song S, Kim A, Ragoczy T, Bender M, Groudine M, Dean A. Multiple functions of Ldb1 required for beta-globin activation during erythroid differentiation. Blood. 2010;116:2356-64 pubmed publisher..Ldb1 contributes these critical functions at both embryonic and adult stages of globin gene expression. These results implicate Ldb1 as a factor that facilitates nuclear relocation for transcription activation. ..
- Bender M, Ragoczy T, Lee J, Byron R, Telling A, Dean A, et al. The hypersensitive sites of the murine ?-globin locus control region act independently to affect nuclear localization and transcriptional elongation. Blood. 2012;119:3820-7 pubmed publisher..The limiting effect on RNA levels occurs after ?-globin genes associate with TFys, at which time HSs contribute to the amount of RNA arising from each burst of transcription by stimulating transcriptional elongation. ..
- McGrath K, Frame J, Fromm G, Koniski A, Kingsley P, Little J, et al. A transient definitive erythroid lineage with unique regulation of the ?-globin locus in the mammalian embryo. Blood. 2011;117:4600-8 pubmed publisher..We conclude that yolk sac-derived EMPs, the first of 2 origins of definitive erythropoiesis, express a unique pattern of globin genes as they generate the first definitive erythrocytes in the liver of the mammalian embryo...
- 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..for EKLF, thrombopoietin (Tpo), c-MPL, GATA-1, GATA-2, and alpha- and embryonic beta H1-globin but non for adult beta maj-globin...
- Hu X, Eszterhas S, Pallazzi N, Bouhassira E, Fields J, Tanabe O, et al. Transcriptional interference among the murine beta-like globin genes. Blood. 2007;109:2210-6 pubmed
- Volloch V, Schweitzer B, Rits S. Ligation-mediated amplification of RNA from murine erythroid cells reveals a novel class of beta globin mRNA with an extended 5'-untranslated region. Nucleic Acids Res. 1994;22:2507-11 pubmed..The evolutionary conservation of this relationship suggests the importance of the GATA promoter element of the mouse beta globin gene and its possible involvement in developmental regulation of expression of this gene. ..
- Porcu S, Poddie D, Melis M, Cao A, Ristaldi M. beta-Minor globin gene expression is preferentially reduced in EKLF Knock-Out mice. Gene. 2005;351:11-7 pubmed..The results obtained support a general role of EKLF in beta-globin gene activation and are in agreement with models involving an advantage of the LCR proximal respect to distal gene. ..
- Casu C, Oikonomidou P, Chen H, Nandi V, Ginzburg Y, Prasad P, et al. Minihepcidin peptides as disease modifiers in mice affected by ?-thalassemia and polycythemia vera. Blood. 2016;128:265-76 pubmed publisher..These studies indicate that drug-like minihepcidins have a potential as future therapeutics for untransfused ?-thalassemia and PV. ..
- 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. ..
- van de Corput M, de Boer E, Knoch T, van Cappellen W, Quintanilla A, Ferrand L, et al. Super-resolution imaging reveals three-dimensional folding dynamics of the ?-globin locus upon gene activation. J Cell Sci. 2012;125:4630-9 pubmed publisher..These physical measurements represent the first non-biochemical evidence that, upon gene activation, an actively transcribing chromatin hub is formed by means of additional chromatin looping. ..
- Römer I, Jungblut P, Reik W, Otto A, Klose J. A novel strategy to identify maternal and paternal inheritance in the mouse. Electrophoresis. 1995;16:823-30 pubmed..For the beta-group hemoglobins our results suggested parental effects on the transcriptional level. ..
- 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. ..
- Kaneko H, Kobayashi E, Yamamoto M, Shimizu R. N- and C-terminal transactivation domains of GATA1 protein coordinate hematopoietic program. J Biol Chem. 2012;287:21439-49 pubmed publisher..These results thus demonstrate that GATA1 has two independent transactivation domains, N-TAD and C-TAD. Both N-TAD and C-TAD retain redundant as well as specific activities for proper hematopoiesis in vivo. ..
- Palis J, Robertson S, Kennedy M, Wall C, Keller G. Development of erythroid and myeloid progenitors in the yolk sac and embryo proper of the mouse. Development. 1999;126:5073-84 pubmed
- Goldberg S, Kuebbing D, Trauber D, Schafer M, Lewis S, Popp R, et al. A 66-base pair insert bridges the deletion responsible for a mouse model of beta-thalassemia. J Biol Chem. 1986;261:12368-74 pubmed..A 3709 (+/- 2)-base pair (bp) region, including the entire beta major globin gene and 2 kilobases of 5' flanking region, is deleted...
- Siwaponanan P, Siegers J, Ghazali R, NG T, McColl B, Ng G, et al. Reduced PU.1 expression underlies aberrant neutrophil maturation and function in ?-thalassemia mice and patients. Blood. 2017;129:3087-3099 pubmed publisher..This study provides a mechanistic insight into defective neutrophil maturation in ?-thalassemia patients, which contributes to deficiencies in neutrophil effector functions. ..
- Vadolas J, Nefedov M, Wardan H, Mansooriderakshan S, Voullaire L, Jamsai D, et al. Humanized beta-thalassemia mouse model containing the common IVSI-110 splicing mutation. J Biol Chem. 2006;281:7399-405 pubmed..The humanized IVSI-110 mouse model accurately recapitulates the splicing defect found in comparable beta-thalassemia patients. This mouse model is available as a platform for testing strategies for the restoration of normal splicing. ..
- Collinson J, Quinn J, Hill R, West J. The roles of Pax6 in the cornea, retina, and olfactory epithelium of the developing mouse embryo. Dev Biol. 2003;255:303-12 pubmed
- Gilman J. Mouse haemoglobin beta chains. Comparative sequence data on adult major and minor beta chains from two species, Mus musculus and Mus cervicolor. Biochem J. 1976;159:43-53 pubmed..K., from whom copies can be obtained on the terms indicated in Biochem. J. (1976) 153, 5. ..
- Lopez R, Schoetz S, DeAngelis K, O NEILL D, Bank A. Multiple hematopoietic defects and delayed globin switching in Ikaros null mice. Proc Natl Acad Sci U S A. 2002;99:602-7 pubmed..These results indicate that Ikaros and PYR complex function together in vivo at many adult hematopoietic cell-specific genes and at intergenic sites, affecting their expression and leading to pleiotropic hematopoietic defects. ..
- Keng V, Yagi H, Ikawa M, Nagano T, Myint Z, Yamada K, et al. Homeobox gene Hex is essential for onset of mouse embryonic liver development and differentiation of the monocyte lineage. Biochem Biophys Res Commun. 2000;276:1155-61 pubmed..These results indicate that Hex plays an essential role in progenitor cells which commit to the hepatic endoderm and in the hematopoietic differentiation of the monocyte lineage. ..
- Walsh C, Bestor T. Cytosine methylation and mammalian development. Genes Dev. 1999;13:26-34 pubmed
- Kraidith K, Svasti S, Teerapornpuntakit J, Vadolas J, Chaimana R, Lapmanee S, et al. Hepcidin and 1,25(OH)2D3 effectively restore Ca2+ transport in Î²-thalassemic mice: reciprocal phenomenon of Fe2+ and Ca2+ absorption. Am J Physiol Endocrinol Metab. 2016;311:E214-23 pubmed publisher..Therefore, our study has shed light on the development of a treatment strategy to rescue calcium dysregulation in Î²-thalassemia. ..
- Nagata M, Ito T, Arimitsu N, Koyama H, Sekimizu K. Transcription arrest relief by S-II/TFIIS during gene expression in erythroblast differentiation. Genes Cells. 2009;14:371-80 pubmed publisher..These results suggest that S-II is involved in transcription of the Bcl-x and beta(major)-globin gene during erythroblast differentiation, by relieving transcription arrest or affecting histone modification on chromatin template. ..
- Vakoc C, Letting D, Gheldof N, Sawado T, Bender M, Groudine M, et al. Proximity among distant regulatory elements at the beta-globin locus requires GATA-1 and FOG-1. Mol Cell. 2005;17:453-62 pubmed..Together, these data demonstrate that GATA-1 and FOG-1 are essential anchors for a tissue-specific chromatin loop, providing general insights into long-range enhancer function. ..
- Lin C, Lim S, D AGATI V, Costantini F. Differential effects of an erythropoietin receptor gene disruption on primitive and definitive erythropoiesis. Genes Dev. 1996;10:154-64 pubmed
- Borges L, Iacovino M, Mayerhofer T, Koyano Nakagawa N, Baik J, Garry D, et al. A critical role for endoglin in the emergence of blood during embryonic development. Blood. 2012;119:5417-28 pubmed publisher..5 represents mesodermal cells competent to respond to TGF?1, BMP4, or BMP2, shaping their hematopoietic development, and that Eng acts as a critical regulator in this process by modulating TGF/BMP signaling. ..
- Farrell C, Grinberg A, Huang S, Chen D, Pichel J, Westphal H, et al. A large upstream region is not necessary for gene expression or hypersensitive site formation at the mouse beta -globin locus. Proc Natl Acad Sci U S A. 2000;97:14554-9 pubmed..2, 5'HS 5, 5'HS 6, and the 5'beta1 odorant receptor gene...
- 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
- Rampon C, Huber P. Multilineage hematopoietic progenitor activity generated autonomously in the mouse yolk sac: analysis using angiogenesis-defective embryos. Int J Dev Biol. 2003;47:273-80 pubmed..The small number of definitive mature blood cells indicates however that the yolk sac is not an effective environment for the terminal differentiation of committed progenitors from the second wave of hematopoiesis. ..
- Kim I, Saunders T, Morrison S. Sox17 dependence distinguishes the transcriptional regulation of fetal from adult hematopoietic stem cells. Cell. 2007;130:470-83 pubmed..Sox17 is thus required for the maintenance of fetal and neonatal HSCs and distinguishes their transcriptional regulation from adult HSCs. ..
- Jones J, Peters J. The molecular characterization of an A:T to G:C transition in the Hbb-b1 gene of the murine homologue of hemoglobin Rainier. Biochem Genet. 1991;29:617-26 pubmed..Therefore, ENU induced an A:T----G:C transition. ..
- Anderson E, Taylor M, Xue X, Ramakrishnan S, Martin A, Xie L, et al. Intestinal HIF2α promotes tissue-iron accumulation in disorders of iron overload with anemia. Proc Natl Acad Sci U S A. 2013;110:E4922-30 pubmed publisher..These data demonstrate that dysregulation of intestinal hypoxia and HIF2α signaling is critical for progressive iron overload in β-thalassemia and may be a novel therapeutic target in several anemic iron-overload disorders. ..
- 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. ..
- Adamsky K, Weizer O, Amariglio N, Breda L, Harmelin A, Rivella S, et al. Decreased hepcidin mRNA expression in thalassemic mice. Br J Haematol. 2004;124:123-4 pubmed
- Khandros E, Thom C, D Souza J, Weiss M. Integrated protein quality-control pathways regulate free ?-globin in murine ?-thalassemia. Blood. 2012;119:5265-75 pubmed publisher..Our findings show that multiple interregulated PQC responses degrade excess ?-globin. Therefore, ?-thalassemia fits into the broader framework of protein-aggregation disorders that use PQC pathways as cell-protective mechanisms. ..
- Hintze K, Katoh Y, Igarashi K, Theil E. Bach1 repression of ferritin and thioredoxin reductase1 is heme-sensitive in cells and in vitro and coordinates expression with heme oxygenase1, beta-globin, and NADP(H) quinone (oxido) reductase1. J Biol Chem. 2007;282:34365-71 pubmed
- Vadolas J, Wardan H, Bosmans M, Zaibak F, Jamsai D, Voullaire L, et al. Transgene copy number-dependent rescue of murine beta-globin knockout mice carrying a 183 kb human beta-globin BAC genomic fragment. Biochim Biophys Acta. 2005;1728:150-62 pubmed
- Konkel D, Maizel J, Leder P. The evolution and sequence comparison of two recently diverged mouse chromosomal beta--globin genes. Cell. 1979;18:865-73 pubmed..Change in such regions apparently occurs less by point mutation than by insertion, deletion and duplication of relatively short segments of the genome. ..
- Basu P, Morris P, Haar J, Wani M, Lingrel J, Gaensler K, et al. KLF2 is essential for primitive erythropoiesis and regulates the human and murine embryonic beta-like globin genes in vivo. Blood. 2005;106:2566-71 pubmed..KLF2 also plays a role in the maturation and/or stability of erythroid cells in the yolk sac. KLF2-/- embryos have a significantly increased number of primitive erythroid cells undergoing apoptotic cell death. ..
- Jellen L, Lu L, Wang X, Unger E, Earley C, Allen R, et al. Iron deficiency alters expression of dopamine-related genes in the ventral midbrain in mice. Neuroscience. 2013;252:13-23 pubmed publisher..This work not only demonstrates a wide genetic variation in the transcriptional response to ID in the brain, but also reveals two novel biochemical pathways by which iron may potentially alter dopamine function. ..
- 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. ..
- Huang J, Fan T, Yan Q, Zhu H, Fox S, Issaq H, et al. Lsh, an epigenetic guardian of repetitive elements. Nucleic Acids Res. 2004;32:5019-28 pubmed..These data suggest that the repetitive sites are direct targets of Lsh action and that Lsh plays an important role as 'epigenetic guardian' of the genome to protect against deregulation of parasitic retroviral elements. ..
- Yi Z, Cohen Barak O, Hagiwara N, Kingsley P, Fuchs D, Erickson D, et al. Sox6 directly silences epsilon globin expression in definitive erythropoiesis. PLoS Genet. 2006;2:e14 pubmed..Thus, Sox6 regulation of epsilony globin might provide a novel therapeutical target in the treatment of hemoglobinopathies such as sickle cell anemia and thalassemia. ..
- Nguyen A, Prado M, Schmidt P, Sendamarai A, Wilson Grady J, Min M, et al. UBE2O remodels the proteome during terminal erythroid differentiation. Science. 2017;357: pubmed publisher..Thus, in reticulocytes, the induction of ubiquitinating factors may drive the transition from a complex to a simple proteome. ..
- SMITH E, Luc S, Croney D, Woodworth M, Greig L, Fujiwara Y, et al. Strict in vivo specificity of the Bcl11a erythroid enhancer. Blood. 2016;128:2338-2342 pubmed publisher..These preclinical findings provide strong in vivo support for genetic modification of the enhancer for therapy of hemoglobin disorders. ..
- Romero J, Suzuka S, Nagel R, Fabry M. Arginine supplementation of sickle transgenic mice reduces red cell density and Gardos channel activity. Blood. 2002;99:1103-8 pubmed..04, t test) in arginine-supplemented mice versus clotrimazole. In conclusion, the major mechanism by which arginine supplementation reduces red cell density (MCHC) in S+S-Antilles mice is by inhibiting the Ca(++)-activated K(+) channel. ..
- Chen W, Gu P, Jiang X, Ruan H, Li C, Gao X. Protein phosphatase 2A catalytic subunit ? (PP2Ac?) maintains survival of committed erythroid cells in fetal liver erythropoiesis through the STAT5 pathway. Am J Pathol. 2011;178:2333-43 pubmed publisher..Collectively, these data provide direct loss-of-function evidence demonstrating the importance of PP2Ac? for the survival of committed erythroid cells during fetal liver erythropoiesis...
- Regan C, Li W, Boucher D, Spatz S, Su M, Kuida K. Erk5 null mice display multiple extraembryonic vascular and embryonic cardiovascular defects. Proc Natl Acad Sci U S A. 2002;99:9248-53 pubmed..Moreover, the inability of Erk5-deficient mice to form a complex vasculature suggests that Erk5 may play an important role in controlling angiogenesis. ..
- Romero J, Suzuka S, Nagel R, Fabry M. Expression of HbC and HbS, but not HbA, results in activation of K-Cl cotransport activity in transgenic mouse red cells. Blood. 2004;103:2384-90 pubmed..We conclude that human globins are able to stimulate the activity and/or regulation of K-Cl cotransport in mouse red cells. These observations support the contention that HbS and HbC stimulate K-Cl cotransport in human red cells. ..
- Hug B, Wesselschmidt R, Fiering S, Bender M, Epner E, Groudine M, et al. Analysis of mice containing a targeted deletion of beta-globin locus control region 5' hypersensitive site 3. Mol Cell Biol. 1996;16:2906-12 pubmed
- Ueda Y, Miyashita N, Imai K, Yamaguchi Y, Takamura K, Notohara M, et al. Nucleotide sequences of the mouse globin beta gene cDNAs in a wild derived new haplotype Hbb(w1). Mamm Genome. 1999;10:879-82 pubmed..The hemoglobin containing the W1 phenotype showed oxygen-binding properties identical with those of the hemoglobins containing D and P phenotypes. ..
- Yoon D, Pastore Y, Divoky V, Liu E, Mlodnicka A, Rainey K, et al. Hypoxia-inducible factor-1 deficiency results in dysregulated erythropoiesis signaling and iron homeostasis in mouse development. J Biol Chem. 2006;281:25703-11 pubmed..These results identify a novel role for HIF-1 in the regulation of iron homeostasis and reveal unexpected regulatory differences in Epo/EpoR signaling in yolk sac and embryonic erythropoiesis. ..
- Libani I, Guy E, Melchiori L, Schiro R, Ramos P, Breda L, et al. Decreased differentiation of erythroid cells exacerbates ineffective erythropoiesis in beta-thalassemia. Blood. 2008;112:875-85 pubmed publisher..In addition, these results suggest that use of Jak2 inhibitors has the potential to profoundly change the management of this disorder. ..
- Erhart M, Simons K, Weaver S. Evolution of the mouse beta-globin genes: a recent gene conversion in the Hbbs haplotype. Mol Biol Evol. 1985;2:304-20 pubmed..The deletion of this area in beta dmin introduced a block of nonhomology between the beta dmaj-beta dmin gene pair and thus may have inhibited further gene correction within the Hbbd haplotype. ..
- Kautz L, Jung G, Du X, Gabayan V, Chapman J, Nasoff M, et al. Erythroferrone contributes to hepcidin suppression and iron overload in a mouse model of Î²-thalassemia. Blood. 2015;126:2031-7 pubmed publisher..Thus, ERFE mediates hepcidin suppression and contributes to iron overload in a mouse model of Î²-thalassemia. ..
- Detloff P, Lewis J, John S, Shehee W, Langenbach R, Maeda N, et al. Deletion and replacement of the mouse adult beta-globin genes by a "plug and socket" repeated targeting strategy. Mol Cell Biol. 1994;14:6936-43 pubmed..One plug deleted 20 kb of DNA containing the two adult beta-globin genes. The other replaced the same region with the human beta-globin gene containing the mutation responsible for sickle cell anemia. ..
- Chen M, Logan T, Hochberg M, Shelat S, Yu X, Wilding G, et al. Erythroid dysplasia, megaloblastic anemia, and impaired lymphopoiesis arising from mitochondrial dysfunction. Blood. 2009;114:4045-53 pubmed publisher..These abnormalities are phenotypically similar to those found in patients with refractory anemia, suggesting that, in some cases, the myelodysplastic syndromes are caused by abnormalities of mitochondrial function. ..
- 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. ..
- May C, Rivella S, Chadburn A, Sadelain M. Successful treatment of murine beta-thalassemia intermedia by transfer of the human beta-globin gene. Blood. 2002;99:1902-8 pubmed..These results demonstrate for the first time that viral-mediated globin gene transfer in hematopoietic stem cells effectively treats a severe hemoglobin disorder. ..
- Mucenski M, McLain K, Kier A, Swerdlow S, Schreiner C, Miller T, et al. A functional c-myb gene is required for normal murine fetal hepatic hematopoiesis. Cell. 1991;65:677-89 pubmed..Additional hematopoietic lineages were similarly affected. These results are compatible with a role for c-myb in maintaining the proliferative state of hematopoietic progenitor cells. ..
- Kobayashi H, Gilbert V, Liu Q, Kapitsinou P, Unger T, Rha J, et al. Myeloid cell-derived hypoxia-inducible factor attenuates inflammation in unilateral ureteral obstruction-induced kidney injury. J Immunol. 2012;188:5106-15 pubmed publisher..Collectively, we provide experimental evidence that hypoxia and/or myeloid cell-specific HIF activation attenuates renal inflammation associated with chronic kidney injury. ..
- Mason K, Carpinelli M, Fletcher J, Collinge J, Hilton A, Ellis S, et al. Programmed anuclear cell death delimits platelet life span. Cell. 2007;128:1173-86 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. ..
- Miccio A, Poletti V, Tiboni F, Rossi C, Antonelli A, Mavilio F, et al. The GATA1-HS2 enhancer allows persistent and position-independent expression of a ?-globin transgene. PLoS ONE. 2011;6:e27955 pubmed publisher..Recruitment of CBP by the LTRs thus establishes an open chromatin domain encompassing the entire provirus, and increases the therapeutic efficacy of ?-globin gene transfer by reducing expression variegation and epigenetic silencing. ..
- Wu F, Saleem M, Kampik N, Satchwell T, Williamson R, Blattner S, et al. Anion exchanger 1 interacts with nephrin in podocytes. J Am Soc Nephrol. 2010;21:1456-67 pubmed publisher..These data suggest that the podocyte protein kAE1 interacts with nephrin and ILK to maintain the structure and function of the glomerular basement membrane. ..
- Fiering S, Epner E, Robinson K, Zhuang Y, Telling A, Hu M, et al. Targeted deletion of 5'HS2 of the murine beta-globin LCR reveals that it is not essential for proper regulation of the beta-globin locus. Genes Dev. 1995;9:2203-13 pubmed..In addition, this result emphasizes that when using homologous recombination to analyze complex regulatory elements in vivo, the inserted selectable marker must be removed to avoid influencing the phenotype of the mutation. ..
- Thongchote K, Svasti S, Teerapornpuntakit J, Krishnamra N, Charoenphandhu N. Running exercise alleviates trabecular bone loss and osteopenia in hemizygous ?-globin knockout thalassemic mice. Am J Physiol Endocrinol Metab. 2014;306:E1406-17 pubmed publisher..In conclusion, BKO mice exhibited pervasive osteopenia and impaired bone microstructure, whereas running exercise appeared to be an effective intervention in alleviating bone microstructural defect in ?-thalassemia. ..
- Martin R, Lahlil R, Damert A, Miquerol L, Nagy A, Keller G, et al. SCL interacts with VEGF to suppress apoptosis at the onset of hematopoiesis. Development. 2004;131:693-702 pubmed..This indicates that SCL functions downstream of VEGF to ensure an expansion of the hematopoietic compartment. ..
- Zafarana G, Rottier R, Grosveld F, Philipsen S. Erythroid overexpression of C/EBPgamma in transgenic mice affects gamma-globin expression and fetal liver erythropoiesis. EMBO J. 2000;19:5856-63 pubmed..We suggest that targeted expression of dominant-negative leucine zipper proteins is a generally applicable approach to ablate specific tissues in mice. ..
- Jamsai D, Zaibak F, Vadolas J, Voullaire L, Fowler K, Gazeas S, et al. A humanized BAC transgenic/knockout mouse model for HbE/beta-thalassemia. Genomics. 2006;88:309-15 pubmed..This mouse model displays hematological abnormalities similar to HbE/beta-thalassemia patients and represent an ideal in vivo model system for pathophysiological studies and evaluation of novel therapies. ..
- Mohn D, Chen S, Dias D, Weinstein D, Dyer M, Sahr K, et al. Mouse Mix gene is activated early during differentiation of ES and F9 stem cells and induces endoderm in frog embryos. Dev Dyn. 2003;226:446-59 pubmed
- He Z, Russell J. Dynamic posttranscriptional regulation of epsilon-globin gene expression in vivo. Blood. 2007;109:795-801 pubmed
- Yoon M, Koo B, Song R, Jeong H, Shin J, Kim Y, et al. Mind bomb-1 is essential for intraembryonic hematopoiesis in the aortic endothelium and the subaortic patches. Mol Cell Biol. 2008;28:4794-804 pubmed publisher..These results suggest that Mib1 is important for intraembryonic hematopoiesis not only in the aortic endothelium but also in the SAPs...
- Brown F, Scott N, Rank G, Collinge J, Vadolas J, Vickaryous N, et al. ENU mutagenesis identifies the first mouse mutants reproducing human ?-thalassemia at the genomic level. Blood Cells Mol Dis. 2013;50:86-92 pubmed publisher..The RBC13 and RBC14 lines are the first ?-thalassemia mouse models that reproduce human ?-thalassemia at the genomic level, and as such highlight the power of ENU mutagenesis screens in generating mouse models of human disease. ..
- 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. ..
- Shehee W, Loeb D, Adey N, Burton F, Casavant N, Cole P, et al. Nucleotide sequence of the BALB/c mouse beta-globin complex. J Mol Biol. 1989;205:41-62 pubmed..The significance of these homologies is unclear, but these regions are candidates for further study in functional assays in erythroid cell lines or transgenic animals. ..
- Vannucchi A, Linari S, Lin C, Koury M, Bondurant M, Migliaccio A. Increased expression of the distal, but not of the proximal, Gata1 transcripts during differentiation of primary erythroid cells. J Cell Physiol. 1999;180:390-401 pubmed
- Papadopoulos P, GutiÃ©rrez L, Demmers J, Scheer E, Pourfarzad F, Papageorgiou D, et al. TAF10 Interacts with the GATA1 Transcription Factor and Controls Mouse Erythropoiesis. Mol Cell Biol. 2015;35:2103-18 pubmed publisher..Thus, our findings demonstrate a cross talk between canonical TFIID and SAGA complexes and cell-specific transcription activators during development and differentiation. ..
- Jahn C, Hutchison C, Phillips S, Weaver S, Haigwood N, Voliva C, et al. DNA sequence organization of the beta-globin complex in the BALB/c mouse. Cell. 1980;21:159-68 pubmed..The rest of this sequence is intact, resembling an adult beta-globin gene except for an inserted base at cocon 90, resulting in a frameshift. Consequently, the beta h3 sequence cannot be translated to produce a normal beta-globin. ..
- Ashe A, Morgan D, Whitelaw N, Bruxner T, Vickaryous N, Cox L, et al. A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development. Genome Biol. 2008;9:R182 pubmed publisher..We have now extended the screen and have identified four new modifiers, MommeD7-D10...
- Kingsley P, Malik J, Emerson R, Bushnell T, McGrath K, Bloedorn L, et al. "Maturational" globin switching in primary primitive erythroid cells. Blood. 2006;107:1665-72 pubmed..mature from proerythroblasts to reticulocytes, they undergo a betaH1- to epsilony-globin switch, up-regulate adult beta1- and beta2-globins, and down-regulate zeta-globin...
- Todokoro K, Ikawa Y. Sequential expression of proto-oncogenes during a mouse erythroleukemia cell differentiation. Biochem Biophys Res Commun. 1986;135:1112-8 pubmed..The expression of ten other proto-oncogenes examined here were not detected, nor dramatically changed during differentiation process. ..