Genomes and Genes
Gene Symbol: Ank1
Description: ankyrin 1, erythroid
Alias: Ank-1, pale, ankyrin-1, erythrocyte ankyrin, normoblastic anemia
- Hughes M, Anderson N, Maltby S, Wong J, Berberovic Z, Birkenmeier C, et al. A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis. Exp Hematol. 2011;39:305-20, 320.e1-2 pubmed publisher..of the HS strain revealed a unique in-frame nonsense mutation arising from a single base transversion in exon 27 of Ank1 (strain designation: Ank1(E924X))...
- Greth A, Lampkin S, Mayura Guru P, Rodda F, Drysdale K, Roberts Thomson M, et al. A novel ENU-mutation in ankyrin-1 disrupts malaria parasite maturation in red blood cells of mice. PLoS ONE. 2012;7:e38999 pubmed publisher..ENU) mutagenesis screen and have identified a novel dominant (haploinsufficient) mutation in the Ank-1 gene (Ank1(MRI23420)) of mice displaying hereditary spherocytosis (HS)...
- Birkenmeier C, Gifford E, Barker J. Normoblastosis, a murine model for ankyrin-deficient hemolytic anemia, is caused by a hypomorphic mutation in the erythroid ankyrin gene Ank1. Hematol J. 2003;4:445-9 pubmed..Study of this model has led to the finding of multiple isoforms of Ank1 as well as Ank1nb-related pathology in nonerythroid tissues...
- Peters L, John K, Lu F, Eicher E, Higgins A, Yialamas M, et al. Ank3 (epithelial ankyrin), a widely distributed new member of the ankyrin gene family and the major ankyrin in kidney, is expressed in alternatively spliced forms, including forms that lack the repeat domain. J Cell Biol. 1995;130:313-30 pubmed..The Ank3 gene maps to mouse Chromosome 10, approximately 36 cM from the centromere, a locus distinct from Ank1 and Ank2. Ank3 is the major kidney ankyrin. Multiple transcripts of approximately 7.5, 6.9, 6.3, 5.7, 5.1, and 4...
- Bodine D, Birkenmeier C, Barker J. Spectrin deficient inherited hemolytic anemias in the mouse: characterization by spectrin synthesis and mRNA activity in reticulocytes. Cell. 1984;37:721-9 pubmed..Analysis of spectrin synthesis in mice homozygous and heterozygous for several alleles of sph indicates that the sph locus is the structural gene locus for alpha spectrin. We have mapped the sph locus to mouse Chromosome 1. ..
- White R, Birkenmeier C, Lux S, Barker J. Ankyrin and the hemolytic anemia mutation, nb, map to mouse chromosome 8: presence of the nb allele is associated with a truncated erythrocyte ankyrin. Proc Natl Acad Sci U S A. 1990;87:3117-21 pubmed..The linkage data suggest that the mouse and human diseases result from mutations in homologous loci. ..
- Shear H, Roth E, Ng C, Nagel R. Resistance to malaria in ankyrin and spectrin deficient mice. Br J Haematol. 1991;78:555-60 pubmed..The heterozygote for the nb defect (nb/+) exhibited a diminution of parasitaemia. We conclude that the host cell spectrin may be necessary for the invasion and/or growth of rodent malarial parasites. ..
- Peters L, Birkenmeier C, Bronson R, White R, Lux S, Otto E, et al. Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice. J Cell Biol. 1991;114:1233-41 pubmed..Ank-2 maps to Chromosome 3 and its expression is unaffected by the nb mutation. We conclude that Ank-1 is specifically required for Purkinje cell stability and, in its absence, Purkinje cell loss and neurological symptoms appear. ..
- Birkenmeier C, Sharp J, Gifford E, Deveau S, Barker J. An alternative first exon in the distal end of the erythroid ankyrin gene leads to production of a small isoform containing an NH2-terminal membrane anchor. Genomics. 1998;50:79-88 pubmedMouse erythroid ankyrin is encoded by the Ank1 gene on Chromosome 8. The best studied isoform is 210 kDa and contains three large functional domains...
- Wandersee N, Tait J, Barker J. Erythroid phosphatidyl serine exposure is not predictive of thrombotic risk in mice with hemolytic anemia. Blood Cells Mol Dis. 2000;26:75-83 pubmed..PS exposure is elevated in all mice with HS and HE, but the percentage of RBCs with exposed PS does not correlate with thrombotic risk in these mice. ..
- Nicolas V, Le Van Kim C, Gane P, Birkenmeier C, Cartron J, Colin Y, et al. Rh-RhAG/ankyrin-R, a new interaction site between the membrane bilayer and the red cell skeleton, is impaired by Rh(null)-associated mutation. J Biol Chem. 2003;278:25526-33 pubmed..These results identify the Rh/RhAG-ankyrin complex as a new interaction site between the red cell membrane and the spectrin-based skeleton, the disruption of which might result in the stomato-spherocytosis typical of Rhnull red cells. ..
- Barisoni L, Trudel M, Chretien N, Ward L, van Adelsberg J, D AGATI V. Analysis of the role of membrane polarity in polycystic kidney disease of transgenic SBM mice. Am J Pathol. 1995;147:1728-35 pubmed
- Peters L, Birkenmeier C, Barker J. Fetal compensation of the hemolytic anemia in mice homozygous for the normoblastosis (nb) mutation. Blood. 1992;80:2122-7 pubmed
- Koizumi T, Hendel E, Lalley P, Tchetgen M, Nadeau J. Homologs of genes and anonymous loci on human chromosome 13 map to mouse chromosomes 8 and 14. Mamm Genome. 1995;6:263-8 pubmed..Finally, we identified either a closely linked sequence related to Col4a2, or a recombination hot-spot between Col4a1 and Col4a2 that has been conserved in humans and mice. ..
- Joiner C, Franco R, Jiang M, Franco M, Barker J, Lux S. Increased cation permeability in mutant mouse red blood cells with defective membrane skeletons. Blood. 1995;86:4307-14 pubmed
- Robledo R, Ciciotte S, Gwynn B, Sahr K, Gilligan D, Mohandas N, et al. Targeted deletion of alpha-adducin results in absent beta- and gamma-adducin, compensated hemolytic anemia, and lethal hydrocephalus in mice. Blood. 2008;112:4298-307 pubmed publisher..These data indicate that adducin plays a role in RBC membrane stability and in cerebrospinal fluid homeostasis...
- Small E, O Rourke J, Moresi V, Sutherland L, McAnally J, Gerard R, et al. Regulation of PI3-kinase/Akt signaling by muscle-enriched microRNA-486. Proc Natl Acad Sci U S A. 2010;107:4218-23 pubmed publisher..Our findings implicate miR-486 as a downstream mediator of the actions of SRF/MRTF-A and MyoD in muscle cells and as a potential modulator of PI3K/Akt signaling. ..
- Huang H, Bauer D, Lelliott P, Greth A, McMorran B, Foote S, et al. A novel ENU-induced ankyrin-1 mutation impairs parasite invasion and increases erythrocyte clearance during malaria infection in mice. Sci Rep. 2016;6:37197 pubmed publisher..We propose that this bystander effect is due to reduced deformability of Ank-1(MRI61689/+) erythrocytes. This paper highlights the complex roles ankyrin plays in mediating malaria resistance. ..
- Hofmann K. The modular nature of apoptotic signaling proteins. Cell Mol Life Sci. 1999;55:1113-28 pubmed
- Campanella M, Chu H, Wandersee N, Peters L, Mohandas N, Gilligan D, et al. Characterization of glycolytic enzyme interactions with murine erythrocyte membranes in wild-type and membrane protein knockout mice. Blood. 2008;112:3900-6 pubmed publisher..These data suggest that oxygenation-dependent assembly of GEs on the membrane could be a general phenomenon of mammalian erythrocytes and that stability of these interactions depends primarily on band 3. ..
- Sassa S, Bernstein S. Studies of erythrocyte protoporphyrin in anemic mutant mice: use of a modified hematofluorometer for the detection of heterozygotes for hemolytic disease. Exp Hematol. 1978;6:479-87 pubmed
- De Jager P, Harvey D, Polydorides A, Zuo J, Heintz N. A high-resolution genetic map of the nervous locus on mouse chromosome 8. Genomics. 1998;48:346-53 pubmed..We used this map position to identify and evaluate three genes-ankyrin 1, cortexin, and farnesyltransferase-as candidates for the nr gene...
- Nadeau J, Birkenmeier C, Chowdhury K, Crosby J, Lalley P. Zinc finger protein gene complexes on mouse chromosomes 8 and 11. Genomics. 1990;8:469-76 pubmed..Surprisingly, both genes were closely linked to two previously mapped, Krüppel-related zinc finger protein genes, suggesting that they are part of gene complexes. ..
- Peters L, Barker J. Novel inheritance of the murine severe combined anemia and thrombocytopenia (Scat) phenotype. Cell. 1993;74:135-42 pubmed..We conclude that contribution from the maternal wild-type allele is required for expression of the scat phenotype in homozygotes. ..
- Rybicki A, Musto S, Schwartz R. Decreased content of protein 4.2 in ankyrin-deficient normoblastosis (nb/nb) mouse red blood cells: evidence for ankyrin enhancement of protein 4.2 membrane binding. Blood. 1995;86:3583-9 pubmed..2 by approximately 60%. These results suggest that ankyrin is required for normal associations of P4.2 with the RBC membrane...
- Bernstein S. Inherited hemolytic disease in mice: a review and update. Lab Anim Sci. 1980;30:197-205 pubmed..These include hemolytic anemia (gene symble ha), jaundice (ja), normoblastic anemia (nb) and spherocytosis (sph)...
- Messer A, Plummer J, Maskin P, Coffin J, Frankel W. Mapping of the motor neuron degeneration (Mnd) gene, a mouse model of amyotrophic lateral sclerosis (ALS). Genomics. 1992;13:797-802 pubmed..The Mnd mouse model should allow study of mechanisms affecting onset and progression of specific neuronal degeneration in both animal and human neurological disease. ..
- Ounzain S, Kobayashi S, Peterson R, He A, Motterle A, Samani N, et al. Cardiac expression of ms1/STARS, a novel gene involved in cardiac development and disease, is regulated by GATA4. Mol Cell Biol. 2012;32:1830-43 pubmed publisher..This GATA4-dependent repression of ms1/STARS expression has major implications for MRTF-SRF signaling in the context of cardiac development and disease. ..
- Sabatino D, Wong C, Cline A, Pyle L, Garrett L, Gallagher P, et al. A minimal ankyrin promoter linked to a human gamma-globin gene demonstrates erythroid specific copy number dependent expression with minimal position or enhancer dependence in transgenic mice. J Biol Chem. 2000;275:28549-54 pubmed..These data indicate that the minimal ankyrin promoter contains all sequences necessary and sufficient for erythroid-specific, copy number-dependent, position-independent expression of the human (A)gamma-globin gene. ..
- Huang H, Zhao P, Arimatsu K, Tabeta K, Yamazaki K, Krieg L, et al. A deep intronic mutation in the ankyrin-1 gene causes diminished protein expression resulting in hemolytic anemia in mice. G3 (Bethesda). 2013;3:1687-95 pubmed publisher..The causal mutation was traced to a single nucleotide transition located deep into intron 13 of gene Ank1. In vitro minigene splicing assay revealed two abnormally spliced transcripts containing cryptic exons from ..
- Ho T, Zollinger D, Chang K, Xu M, Cooper E, Stankewich M, et al. A hierarchy of ankyrin-spectrin complexes clusters sodium channels at nodes of Ranvier. Nat Neurosci. 2014;17:1664-72 pubmed publisher..Unexpectedly, in the absence of ankyrin-G, erythrocyte ankyrin (ankyrin-R) and its binding partner Î²I spectrin substitute for and rescue nodal Na(+) channel clustering...
- Peng W, Sung L. RGD-containing ankyrin externalized onto the cell surface triggers ?V?3 integrin-mediated erythrophagocytosis. Biochem Biophys Res Commun. 2011;407:466-71 pubmed publisher..Thus, externalization of ankyrin followed by RGD/integrin recognition may be a novel mechanism by which erythrocytes adhere to macrophages preceding phagocytosis. ..
- Huang H, Bauer D, Lelliott P, Dixon M, Tilley L, McMorran B, et al. Ankyrin-1 Gene Exhibits Allelic Heterogeneity in Conferring Protection Against Malaria. G3 (Bethesda). 2017;7:3133-3144 pubmed publisher..This study also emphasized the importance of such phenomena in achieving a better understanding of host-parasite interactions, which could be the basis of future studies. ..
- Kildey K, Flower R, Tran T, Tunningley R, Harris J, Dean M. Characterization of ENU-induced Mutations in Red Blood Cell Structural Proteins. Comput Struct Biotechnol J. 2013;6:e201303012 pubmed publisher..Exome sequencing revealed a novel single nucleotide variation (SNV) in Ank1 encoding the RBC structural protein ankyrin-1 and the pedigree was designated Ank1(EX34)...
- Stankewich M, Cianci C, Stabach P, Ji L, Nath A, Morrow J. Cell organization, growth, and neural and cardiac development require ?II-spectrin. J Cell Sci. 2011;124:3956-66 pubmed publisher..These data indicate that the spectrin-ankyrin scaffold is crucial in vertebrates for cell spreading, tissue patterning and organ development, particularly in the developing brain and heart, but is not required for cell viability. ..
- Giacomello E, Quarta M, Paolini C, Squecco R, Fusco P, Toniolo L, et al. Deletion of small ankyrin 1 (sAnk1) isoforms results in structural and functional alterations in aging skeletal muscle fibers. Am J Physiol Cell Physiol. 2015;308:C123-38 pubmed publisherMuscle-specific ankyrins 1 (sAnk1) are a group of small ankyrin 1 isoforms, of which sAnk1.5 is the most abundant...
- Armani A, Galli S, Giacomello E, Bagnato P, Barone V, Rossi D, et al. Molecular interactions with obscurin are involved in the localization of muscle-specific small ankyrin1 isoforms to subcompartments of the sarcoplasmic reticulum. Exp Cell Res. 2006;312:3546-58 pubmed..A novel small muscle-specific ankyrin isoform, ank1.9 was identified that, similarly to the known ank1...
- Nilson D, Sabatino D, Bodine D, Gallagher P. Major erythrocyte membrane protein genes in EKLF-deficient mice. Exp Hematol. 2006;34:705-12 pubmed
- Kreimer Birnbaum M, Bannerman R, Russell E, Bernstein S. Pyrrole pigments in normal and congenitally anaemic mice (+:+, W-W v , ha-ha, nb-nb, mk-mk, f-f and sla-Y). Comp Biochem Physiol A Comp Physiol. 1972;43:21-30 pubmed
- Peters L, White R, Birkenmeier C, Bloom M, Lux S, Barker J. Changing patterns in cytoskeletal mRNA expression and protein synthesis during murine erythropoiesis in vivo. Proc Natl Acad Sci U S A. 1992;89:5749-53 pubmed
- Salomao M, Chen K, Villalobos J, Mohandas N, An X, Chasis J. Hereditary spherocytosis and hereditary elliptocytosis: aberrant protein sorting during erythroblast enucleation. Blood. 2010;116:267-9 pubmed publisher..We conclude that aberrant protein sorting is one mechanistic basis for protein deficiencies in HE and HS...
- Ji P, Lodish H. Ankyrin and band 3 differentially affect expression of membrane glycoproteins but are not required for erythroblast enucleation. Biochem Biophys Res Commun. 2012;417:1188-92 pubmed publisher..However, neither band 3 nor ankyrin are required for enucleation. These results demonstrate that mammalian erythroblast enucleation does not depend on the membrane integrity generated by the ankyrin-band 3 complex. ..
- Yuki K, Eva M, Richer E, Chung D, Paquet M, Cellier M, et al. Suppression of hepcidin expression and iron overload mediate Salmonella susceptibility in ankyrin 1 ENU-induced mutant. PLoS ONE. 2013;8:e55331 pubmed publisher..The position of Ity16 was refined on chromosome 8 and a nonsense mutation was identified in the ankyrin 1 (Ank1) gene. ANK1 plays an important role in the formation and stabilization of the red cell cytoskeleton...
- Dooner G, Barker J, Gallagher P, Debatis M, Brown A, Forget B, et al. Gene transfer to ankyrin-deficient bone marrow corrects spherocytosis in vitro. Exp Hematol. 2000;28:765-74 pubmed..The human ankyrin promoter conferred erythropoietin-dependent expression in normal and mutant erythroid progenitors, which could have implications for the gene therapy of human hemolytic anemias. ..
- Trotman B, Bernstein S, Bove K, Wirt G. Studies on the pathogenesis of pigment gallstones in hemolytic anemia: description and characteristics of a mouse model. J Clin Invest. 1980;65:1301-8 pubmed..pathogenesis of hemolysis-induced gallstones was studied in mice with a hereditary hemolytic disease called normoblastic anemia (genotype nb/nb) and in their normal controls (genotype +/+)...
- Bannerman R, Edwards J, Pinkerton P. Hereditary disorders of the red cell in animals. Prog Hematol. 1973;8:131-79 pubmed
- Iolascon A, Miraglia del Giudice E, Camaschella C. Molecular pathology of inherited erythrocyte membrane disorders: hereditary spherocytosis and elliptocytosis. Haematologica. 1992;77:60-72 pubmed..This paper will review the effects of recent advances upon: cytoskeleton structure and assembly; molecular pathology of spherocytosis, elliptocytosis and pyropoikilocytosis. ..
- Giacomello E, Sorrentino V. Localization of ank1.5 in the sarcoplasmic reticulum precedes that of SERCA and RyR: relationship with the organization of obscurin in developing sarcomeres. Histochem Cell Biol. 2009;131:371-82 pubmed publisherb>Ank1.5 is a muscle-specific isoform of ankyrin1 localized on the sarcoplasmic reticulum (SR) membrane that has been shown to interact with obscurin, a sarcomeric protein. We report here studies on the localization of obscurin and ank1...