Genomes and Genes
Gene Symbol: Sptb
Description: spectrin beta, erythrocytic
Alias: AI842465, D330027P03Rik, Gm1301, Spnb-1, Spnb1, jaundiced, mKIAA4219, spectrin beta chain, erythrocytic, beta-I spectrin, beta-spectrin 1, brain erythroid spectrin (235E), spectrin R, spectrin beta 1, spectrin beta chain, erythrocyte
- 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
- Bloom M, Kaysser T, Birkenmeier C, Barker J. The murine mutation jaundiced is caused by replacement of an arginine with a stop codon in the mRNA encoding the ninth repeat of beta-spectrin. Proc Natl Acad Sci U S A. 1994;91:10099-103 pubmedThe jaundiced, ja/ja, mouse mutant has a severe hemolytic anemia associated with a deficiency of beta-spectrin in erythrocyte ghosts. Genes for the disease phenotype and beta-spectrin colocalize on Chromosome 12...
- Tremblay G, Tremblay A, Copeland N, Gilbert D, Jenkins N, Labrie F, et al. Cloning, chromosomal localization, and functional analysis of the murine estrogen receptor beta. Mol Endocrinol. 1997;11:353-65 pubmed..Our results demonstrate that while ER beta shares many of the functional characteristics of ER alpha, the molecular mechanisms regulating the transcriptional activity of mER beta may be distinct from those of ER alpha. ..
- Bernstein S. Inherited hemolytic disease in mice: a review and update. Lab Anim Sci. 1980;30:197-205 pubmed..Because each gene has its own special function, the gross phenotypic manifestations, although similar, must have a different functional basis. ..
- MacNeil I, Kennedy J, Godfrey D, Jenkins N, Masciantonio M, Mineo C, et al. Isolation of a cDNA encoding thymic shared antigen-1. A new member of the Ly6 family with a possible role in T cell development. J Immunol. 1993;151:6913-23 pubmed..Our results suggest that TSA-1 may play a role during positive selection and the transition from CD4+CD8+ thymocytes to the mature CD4+CD8- and CD4-CD8+ subsets. ..
- Korsgren C, Lux S. The carboxyterminal EF domain of erythroid alpha-spectrin is necessary for optimal spectrin-actin binding. Blood. 2010;116:2600-7 pubmed publisher..1R complex. A model, based on the structure of ?-actinin, suggests that the EF domain modulates the function of the ABD and that the C-terminal EF hands (EF(34)) may bind to the linker that connects the ABD to the first spectrin repeat. ..
- Patel Hett S, Wang H, Begonja A, Thon J, Alden E, Wandersee N, et al. The spectrin-based membrane skeleton stabilizes mouse megakaryocyte membrane systems and is essential for proplatelet and platelet formation. Blood. 2011;118:1641-52 pubmed publisher..The results of this study provide evidence for a role for spectrin in different steps of megakaryocyte development through its participation in the formation of invaginated membranes and in the maintenance of proplatelet structure...
- Oliver G, Wehr R, Jenkins N, Copeland N, Cheyette B, Hartenstein V, et al. Homeobox genes and connective tissue patterning. Development. 1995;121:693-705 pubmed..Six 1 and Six 2 also are expressed in skeletal and smooth muscle, respectively. These genes may participate in the patterning of the distal tendons of the limb phalanges by setting positional values along the limb axes. ..
- Riederer B, Zagon I, Goodman S. Brain spectrin(240/235) and brain spectrin(240/235E): differential expression during mouse brain development. J Neurosci. 1987;7:864-74 pubmed..This subtype is most prominent in granule cells of the cerebellum and dentate gyrus in the hippocampus. ..
- Gorski D, LePage D, Patel C, Copeland N, Jenkins N, Walsh K. Molecular cloning of a diverged homeobox gene that is rapidly down-regulated during the G0/G1 transition in vascular smooth muscle cells. Mol Cell Biol. 1993;13:3722-33 pubmed..The removal of serum from growing cells induced Gax expression fivefold within 24 h. These data suggest that Gax is likely to have a regulatory function in the G0-to-G1 transition of the cell cycle in vascular smooth muscle cells. ..
- Kaysser T, Wandersee N, Bronson R, Barker J. Thrombosis and secondary hemochromatosis play major roles in the pathogenesis of jaundiced and spherocytic mice, murine models for hereditary spherocytosis. Blood. 1997;90:4610-9 pubmedb>Jaundiced mice, ja/ja, suffer from a severe hemolytic anemia caused by a complete deficiency of erythroid beta-spectrin...
- 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
- Nilson D, Sabatino D, Bodine D, Gallagher P. Major erythrocyte membrane protein genes in EKLF-deficient mice. Exp Hematol. 2006;34:705-12 pubmed
- Koh T, Escobedo J. Cytoskeletal disruption and small heat shock protein translocation immediately after lengthening contractions. Am J Physiol Cell Physiol. 2004;286:C713-22 pubmed
- 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. ..
- Bugge T, Kombrinck K, Xiao Q, Holmbäck K, Daugherty C, Witte D, et al. Growth and dissemination of Lewis lung carcinoma in plasminogen-deficient mice. Blood. 1997;90:4522-31 pubmed
- Birkenmeier C, Bodine D, Repasky E, Helfman D, Hughes S, Barker J. Remarkable homology among the internal repeats of erythroid and nonerythroid spectrin. Proc Natl Acad Sci U S A. 1985;82:5671-5 pubmed..In this respect, the degree of homology found between them was unexpected. Our data suggest a common evolutionary origin for these two alpha-spectrins and allow some predictions concerning spectrin gene structure. ..
- Legendre K, Safieddine S, Küssel Andermann P, Petit C, El Amraoui A. alphaII-betaV spectrin bridges the plasma membrane and cortical lattice in the lateral wall of the auditory outer hair cells. J Cell Sci. 2008;121:3347-56 pubmed publisher..We conclude that the cortical network involved in the sound-induced electromotility of OHCs contains alphaII-betaV spectrin, and not the conventional alphaII-betaII spectrin. ..
- Khan F, Clarke V, D EUSTACHIO P. Refinement of the DNA marker maps of mouse chromosome 12. Genomics. 1994;21:128-37 pubmed
- Peters L, Swearingen R, Andersen S, Gwynn B, Lambert A, Li R, et al. Identification of quantitative trait loci that modify the severity of hereditary spherocytosis in wan, a new mouse model of band-3 deficiency. Blood. 2004;103:3233-40 pubmed..The peak LOD score was obtained with a marker for Spnb1 encoding erythroid beta-spectrin, an obvious candidate gene.
- Cioe L, Laurila P, Meo P, Krebs K, Goodman S, Curtis P. Cloning and nucleotide sequence of a mouse erythrocyte beta-spectrin cDNA. Blood. 1987;70:915-20 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...
- Webb G, Jenkins N, Largaespada D, Copeland N, Fernandez C, Bowtell D. Mammalian homologues of the Drosophila Son of sevenless gene map to murine chromosomes 17 and 12 and to human chromosomes 2 and 14, respectively. Genomics. 1993;18:14-9 pubmed..3-D and their human counterparts to chromosomes 2p21-2p2 and 14q21, respectively. Neither the human nor the mouse Sos loci map close to known mutations or to regions showing consistent karyotypic abnormalities in tumor cells. ..
- Tse W, Tang J, Jin O, Korsgren C, John K, Kung A, et al. A new spectrin, beta IV, has a major truncated isoform that associates with promyelocytic leukemia protein nuclear bodies and the nuclear matrix. J Biol Chem. 2001;276:23974-85 pubmed..Spectrin betaIV is the first beta-spectrin associated with a subnuclear structure and may be part of a nuclear scaffold to which gene regulatory machinery binds. ..
- 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. ..
- Ma Y, Zimmer W, Riederer B, Bloom M, Barker J, Goodman S, et al. The complete amino acid sequence for brain beta spectrin (beta fodrin): relationship to globin sequences. Brain Res Mol Brain Res. 1993;18:87-99 pubmed..In vitro analysis has demonstrated that heme is capable of specific attachment to brain spectrin, suggesting possible new functions in electron transfer, oxygen binding, nitric oxide binding or heme scavenging. ..
- D EUSTACHIO P, Clarke V. Localization of the twitcher (twi) mutation on mouse chromosome 12. Mamm Genome. 1993;4:684-6 pubmed