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Gene Review

Atxn1  -  ataxin 1

Mus musculus

Synonyms: 2900016G23Rik, Ataxin-1, Atx1, C85907, ENSMUSG00000074917, ...
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Disease relevance of Atxn1


Psychiatry related information on Atxn1

  • However, Sca1 null mice demonstrate decreased exploratory behavior, pronounced deficits in the spatial version of the Morris water maze test, and impaired performance on the rotating rod apparatus [6].

High impact information on Atxn1

  • Moreover, the expression of noncoding (CUG)n expansion transcripts (ataxin 8 opposite strand, ATXN8OS) and the discovery of intranuclear polyglutamine inclusions suggests SCA8 pathogenesis involves toxic gain-of-function mechanisms at both the protein and RNA levels [7].
  • 1C2-positive intranuclear inclusions in cerebellar Purkinje and brainstem neurons in SCA8 expansion mice and human SCA8 autopsy tissue result from translation of a polyglutamine protein, encoded on a previously unidentified antiparallel transcript (ataxin 8, ATXN8) spanning the repeat in the CAG direction [7].
  • Here we evaluate the ability of RNA interference (RNAi) to inhibit polyglutamine-induced neurodegeneration caused by mutant ataxin-1 in a mouse model of SCA1 [4].
  • Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures [8].
  • Nuclear matrix preparations demonstrate that ataxin-1 associates with the nuclear matrix in Purkinje and COS cells [8].

Chemical compound and disease context of Atxn1


Biological context of Atxn1

  • These data suggest that, even with 78 glutamines, prolonged exposure to mutant ataxin-1 at endogenous levels is necessary to produce a neurological phenotype reminiscent of human SCA1 [10].
  • Mapping of the Sca1 and pcd genes on mouse chromosome 13 provides evidence that they are different genes [11].
  • Here, we show that autophagy is essential for the elimination of aggregated forms of mutant huntingtin and ataxin-1 from the cytoplasmic but not nuclear compartments [12].
  • Expression of the Ly-6E.1 (Sca-1) transgene in adult hematopoietic stem cells and the developing mouse embryo [13].
  • Depletion of MNCs of either CD11b-positive, CD45R-positive, or Sca-1-positive cells resulted in significant attenuation of endothelium-dependent vasodilation as compared with nondepleted MNCs; however, vasoreactivity was still significantly improved as compared with saline-treated apoE(-/-) mice [14].

Anatomical context of Atxn1

  • Herein is reported the existence of nontubular cells that express stem cell antigen-1 (Sca-1) [15].
  • Immunocytochemistry was performed to identify the bone marrow origin of the cells in the RPE using antibodies for CD45, Sca-1, and c-kit, as well as the expression of the RPE-specific marker, RPE-65 [16].
  • During cerebellar development, there is a transient burst of Sca1 expression at postnatal day 14 when the murine cerebellar cortex becomes physiologically functional [9].
  • These results suggest that the normal Sca1 gene, has a role at specific stages of both cerebellar and vertebral column development [9].
  • There is also marked expression of Sca1 in mesenchymal cells of the intervertebral discs during development of the spinal column [9].

Associations of Atxn1 with chemical compounds

  • Sca-1(+) mononuclear cell populations in culture from samples of bone marrow at 48 hours bound together Ulex Europus-1, and incorporated fluorescent 1,1'-dioctadecyl- 3,3,3,'3'-tetramethylindocarbocyanine perchlorate-labelled acetylated low-density lipoprotein intracellularily, both characteristics of mature endothelium [17].
  • Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice [1].
  • We also show that muscle contains a population of cells with several characteristics of bone marrow-derived hematopoietic stem cells, including high efflux of the fluorescent dye Hoechst 33342 and expression of the stem cell antigens Sca-1 and c-Kit, although the cells lack the hematopoietic marker CD45 [18].
  • We found that a homogeneous cell population expressing high surface levels of stem cell antigen 1 (Sca-1) was able to give rise in vivo to ductal and alveolar structures comprising luminal secretory and basal myoepithelial cells [19].
  • Sca-1 and Thy-1 Accelerate Neuron-like Differentiation in Bone Marrow Stromal Cells [20].

Regulatory relationships of Atxn1

  • The aim of present study was to determine if intranasally administered IGF-I to SCA1 transgenic mice suppresses toxic effects of ataxin-1 [21].
  • Simultaneously, we showed that mutant ataxin-1 promoted interaction between PQBP-1 and RNA polymerase II and enhanced repression of the basal transcription by PQBP-1 [22].

Other interactions of Atxn1

  • The cell surface protein Sca-1, which is associated with muscle and blood stem cells, was found on approximately 1/2 of these Bcl-2-positive cells [23].
  • A population of cells expressing the endothelial cell marker VEGFR-2/Flk-1, and the progenitor markers c-Kit and Sca-1, were incorporated into tumor tissue [24].
  • To determine the effect of enforced expression of Evi1 in vivo, we developed a transgenic mouse model utilizing the murine Sca-1 (Ly-6E.1) promoter [25].
  • While the C-kit+ population at this stage is more homogeneous than at any other stage of fetal thymus development, there are still markers (B220, CD5, Tsa, Mac-1, CD4, and Sca-1) that can split this population into other subsets [26].
  • Mouse hematopoietic stem-cell antigen Sca-1 is a member of the Ly-6 antigen family [27].
  • Our results identify the MEF2-HDAC4 complex as a target for ataxin-1 transcriptional repression activity and suggest a novel pathogenic mechanism whereby ataxin-1 sequesters and inhibits the neuronal survival factor MEF2 [28].

Analytical, diagnostic and therapeutic context of Atxn1

  • By using Sca-1 antibody in conjunction with magnetic activated cell sorting (MACS), followed with a flow cytometric cell sorting (FACS) method for CD34 and CD45, we have developed a rapid oval cell isolation protocol with high yields of greater than 90% [29].
  • Murine epidermal label-retaining cells isolated by flow cytometry do not express the stem cell markers CD34, Sca-1, or Flk-1 [30].
  • Western blotting confirmed elevated Sca-1 protein expression in myocardium 7 days after MI [31].


  1. Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Klement, I.A., Skinner, P.J., Kaytor, M.D., Yi, H., Hersch, S.M., Clark, H.B., Zoghbi, H.Y., Orr, H.T. Cell (1998) [Pubmed]
  2. Amino acids in a region of ataxin-1 outside of the polyglutamine tract influence the course of disease in SCA1 transgenic mice. Skinner, P.J., Vierra-Green, C.A., Emamian, E., Zoghbi, H.Y., Orr, H.T. Neuromolecular Med. (2002) [Pubmed]
  3. Tissue transglutaminase crosslinks ataxin-1: Possible role in SCA1 pathogenesis. D'Souza, D.R., Wei, J., Shao, Q., Hebert, M.D., Subramony, S.H., Vig, P.J. Neurosci. Lett. (2006) [Pubmed]
  4. RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia. Xia, H., Mao, Q., Eliason, S.L., Harper, S.Q., Martins, I.H., Orr, H.T., Paulson, H.L., Yang, L., Kotin, R.M., Davidson, B.L. Nat. Med. (2004) [Pubmed]
  5. Dual roles of telomerase in cardiac protection and repair. Schneider, M.D. Novartis Found. Symp. (2006) [Pubmed]
  6. Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation. Matilla, A., Roberson, E.D., Banfi, S., Morales, J., Armstrong, D.L., Burright, E.N., Orr, H.T., Sweatt, J.D., Zoghbi, H.Y., Matzuk, M.M. J. Neurosci. (1998) [Pubmed]
  7. Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Moseley, M.L., Zu, T., Ikeda, Y., Gao, W., Mosemiller, A.K., Daughters, R.S., Chen, G., Weatherspoon, M.R., Clark, H.B., Ebner, T.J., Day, J.W., Ranum, L.P. Nat. Genet. (2006) [Pubmed]
  8. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Skinner, P.J., Koshy, B.T., Cummings, C.J., Klement, I.A., Helin, K., Servadio, A., Zoghbi, H.Y., Orr, H.T. Nature (1997) [Pubmed]
  9. Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1). Banfi, S., Servadio, A., Chung, M., Capozzoli, F., Duvick, L.A., Elde, R., Zoghbi, H.Y., Orr, H.T. Hum. Mol. Genet. (1996) [Pubmed]
  10. Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus. Lorenzetti, D., Watase, K., Xu, B., Matzuk, M.M., Orr, H.T., Zoghbi, H.Y. Hum. Mol. Genet. (2000) [Pubmed]
  11. Mapping of the Sca1 and pcd genes on mouse chromosome 13 provides evidence that they are different genes. Servadio, A., McCall, A., Zoghbi, H., Eicher, E.M. Genomics (1995) [Pubmed]
  12. Increased susceptibility of cytoplasmic over nuclear polyglutamine aggregates to autophagic degradation. Iwata, A., Christianson, J.C., Bucci, M., Ellerby, L.M., Nukina, N., Forno, L.S., Kopito, R.R. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  13. Expression of the Ly-6E.1 (Sca-1) transgene in adult hematopoietic stem cells and the developing mouse embryo. Miles, C., Sanchez, M.J., Sinclair, A., Dzierzak, E. Development (1997) [Pubmed]
  14. Improvement of endothelial function by systemic transfusion of vascular progenitor cells. Wassmann, S., Werner, N., Czech, T., Nickenig, G. Circ. Res. (2006) [Pubmed]
  15. Isolation and characterization of nontubular sca-1+lin- multipotent stem/progenitor cells from adult mouse kidney. Dekel, B., Zangi, L., Shezen, E., Reich-Zeliger, S., Eventov-Friedman, S., Katchman, H., Jacob-Hirsch, J., Amariglio, N., Rechavi, G., Margalit, R., Reisner, Y. J. Am. Soc. Nephrol. (2006) [Pubmed]
  16. Systemically transferred hematopoietic stem cells home to the subretinal space and express RPE-65 in a mouse model of retinal pigment epithelium damage. Atmaca-Sonmez, P., Li, Y., Yamauchi, Y., Schanie, C.L., Ildstad, S.T., Kaplan, H.J., Enzmann, V. Exp. Eye Res. (2006) [Pubmed]
  17. A systemic provascular response in bone marrow to musculoskeletal trauma in mice. Laing, A.J., Dillon, J.P., Condon, E.T., Coffey, J.C., Street, J.T., Wang, J.H., McGuinness, A.J., Redmond, H.P. The Journal of bone and joint surgery. British volume (2007) [Pubmed]
  18. Hematopoietic potential of stem cells isolated from murine skeletal muscle. Jackson, K.A., Mi, T., Goodell, M.A. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  19. Isolation of mouse mammary epithelial progenitor cells with basal characteristics from the Comma-Dbeta cell line. Deugnier, M.A., Faraldo, M.M., Teulière, J., Thiery, J.P., Medina, D., Glukhova, M.A. Dev. Biol. (2006) [Pubmed]
  20. Sca-1 and Thy-1 Accelerate Neuron-like Differentiation in Bone Marrow Stromal Cells. Mizobe, T., Kidoguchi, K., Tamaki, M., Sasayama, T., Kondoh, T., Kohmura, E. The Kobe journal of medical sciences. (2006) [Pubmed]
  21. Intranasal administration of IGF-I improves behavior and Purkinje cell pathology in SCA1 mice. Vig, P.J., Subramony, S.H., D'Souza, D.R., Wei, J., Lopez, M.E. Brain Res. Bull. (2006) [Pubmed]
  22. PQBP-1 increases vulnerability to low potassium stress and represses transcription in primary cerebellar neurons. Enokido, Y., Maruoka, H., Hatanaka, H., Kanazawa, I., Okazawa, H. Biochem. Biophys. Res. Commun. (2002) [Pubmed]
  23. Pro- and anti-apoptotic members of the Bcl-2 family in skeletal muscle: a distinct role for Bcl-2 in later stages of myogenesis. Dominov, J.A., Houlihan-Kawamoto, C.A., Swap, C.J., Miller, J.B. Dev. Dyn. (2001) [Pubmed]
  24. Analysis of tumor-associated stromal cells using SCID GFP transgenic mice: contribution of local and bone marrow-derived host cells. Udagawa, T., Puder, M., Wood, M., Schaefer, B.C., D'Amato, R.J. FASEB J. (2006) [Pubmed]
  25. Erythroid defects and increased retrovirally-induced tumor formation in Evi1 transgenic mice. Louz, D., van den Broek, M., Verbakel, S., Vankan, Y., van Lom, K., Joosten, M., Meijer, D., Löwenberg, B., Delwel, R. Leukemia (2000) [Pubmed]
  26. Day 11 mouse fetal thymus: phenotype and search for the point of commitment. I, L.Y. Differentiation (1996) [Pubmed]
  27. Mouse hematopoietic stem-cell antigen Sca-1 is a member of the Ly-6 antigen family. van de Rijn, M., Heimfeld, S., Spangrude, G.J., Weissman, I.L. Proc. Natl. Acad. Sci. U.S.A. (1989) [Pubmed]
  28. The neurodegenerative disease protein ataxin-1 antagonizes the neuronal survival function of myocyte enhancer factor-2. Bolger, T.A., Zhao, X., Cohen, T.J., Tsai, C.C., Yao, T.P. J. Biol. Chem. (2007) [Pubmed]
  29. Mouse A6-positive hepatic oval cells also express several hematopoietic stem cell markers. Petersen, B.E., Grossbard, B., Hatch, H., Pi, L., Deng, J., Scott, E.W. Hepatology (2003) [Pubmed]
  30. Murine epidermal label-retaining cells isolated by flow cytometry do not express the stem cell markers CD34, Sca-1, or Flk-1. Albert, M.R., Foster, R.A., Vogel, J.C. J. Invest. Dermatol. (2001) [Pubmed]
  31. The role of the sca-1+/CD31- cardiac progenitor cell population in postinfarction left ventricular remodeling. Wang, X., Hu, Q., Nakamura, Y., Lee, J., Zhang, G., From, A.H., Zhang, J. Stem Cells (2006) [Pubmed]
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