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Gene Review

Atxn7  -  ataxin 7

Mus musculus

Synonyms: A430107N12Rik, AI627028, Ataxin-7, Sca7, Spinocerebellar ataxia type 7 protein homolog, ...
 
 
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Disease relevance of Atxn7

 

High impact information on Atxn7

  • These data demonstrate that glutamine expansion stabilizes mutant ataxin-7, provide an explanation for selective neuronal vulnerability, and show that mutant ataxin-7 impairs posttetanic potentiation (PTP) [2].
  • Neurons that appeared most vulnerable had relatively high levels of mutant ataxin-7; it is interesting, however, that marked dysfunction occurred in these neurons weeks prior to the appearance of nuclear inclusions [2].
  • Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7 [3].
  • Inversely, disruption of the endogenous nuclear bodies with cadmium increases the nuclear accumulation and aggregation of mutant ataxin-7, demonstrating their role in ataxin-7 turnover [4].
  • It was also established that ataxin-7 must localize to the nucleus to repress Crx transactivation, and the likely nuclear localization signals were mapped to ataxin-7's carboxy-terminal region [1].
 

Biological context of Atxn7

  • Finally, using chromatin immunoprecipitation, it was demonstrated that Crx and ataxin-7 engage in a functionally significant interaction by co-occupying the promoter and enhancer regions of Crx-regulated retinal genes in vivo [1].
  • Expression of ataxin-7 was detected during mouse embryonic development and in all adult mouse tissues examined by northern and western blots [5].
  • The appearance of truncated ataxin-7 in nuclear aggregates correlates with the onset of a disease phenotype in the SCA7 mice, suggesting that nuclear localization and proteolytic cleavage may be important features of SCA7 pathogenesis [6].
  • Because the rhodopsin promoter drives mutant ataxin-7 expression in our SCA7 mice, we also assessed whether downregulation of mutant SCA7 transgene would reverse retinopathy progression and aggregate formation [7].
 

Anatomical context of Atxn7

 

Associations of Atxn7 with chemical compounds

 

Regulatory relationships of Atxn7

 

Other interactions of Atxn7

 

Analytical, diagnostic and therapeutic context of Atxn7

  • When yeast two-hybrid assays indicated that cone-rod homeobox protein (CRX) interacts with ataxin-7, we performed further studies to assess this interaction [3].

References

  1. Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization. Chen, S., Peng, G.H., Wang, X., Smith, A.C., Grote, S.K., Sopher, B.L., La Spada, A.R. Hum. Mol. Genet. (2004) [Pubmed]
  2. SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Yoo, S.Y., Pennesi, M.E., Weeber, E.J., Xu, B., Atkinson, R., Chen, S., Armstrong, D.L., Wu, S.M., Sweatt, J.D., Zoghbi, H.Y. Neuron (2003) [Pubmed]
  3. Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. La Spada, A.R., Fu, Y.H., Sopher, B.L., Libby, R.T., Wang, X., Li, L.Y., Einum, D.D., Huang, J., Possin, D.E., Smith, A.C., Martinez, R.A., Koszdin, K.L., Treuting, P.M., Ware, C.B., Hurley, J.B., Ptácek, L.J., Chen, S. Neuron (2001) [Pubmed]
  4. PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins. Janer, A., Martin, E., Muriel, M.P., Latouche, M., Fujigasaki, H., Ruberg, M., Brice, A., Trottier, Y., Sittler, A. J. Cell Biol. (2006) [Pubmed]
  5. Cloning and expression analysis of the murine homolog of the spinocerebellar ataxia type 7 (SCA7) gene. Ström, A.L., Jonasson, J., Hart, P., Brännström, T., Forsgren, L., Holmberg, M. Gene (2002) [Pubmed]
  6. Polyglutamine-expanded ataxin-7 promotes non-cell-autonomous purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic mice. Garden, G.A., Libby, R.T., Fu, Y.H., Kinoshita, Y., Huang, J., Possin, D.E., Smith, A.C., Martinez, R.A., Fine, G.C., Grote, S.K., Ware, C.B., Einum, D.D., Morrison, R.S., Ptacek, L.J., Sopher, B.L., La Spada, A.R. J. Neurosci. (2002) [Pubmed]
  7. Disease progression despite early loss of polyglutamine protein expression in SCA7 mouse model. Helmlinger, D., Abou-Sleymane, G., Yvert, G., Rousseau, S., Weber, C., Trottier, Y., Mandel, J.L., Devys, D. J. Neurosci. (2004) [Pubmed]
  8. Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice. Yvert, G., Lindenberg, K.S., Picaud, S., Landwehrmeyer, G.B., Sahel, J.A., Mandel, J.L. Hum. Mol. Genet. (2000) [Pubmed]
  9. Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction. Helmlinger, D., Hardy, S., Abou-Sleymane, G., Eberlin, A., Bowman, A.B., Gansmüller, A., Picaud, S., Zoghbi, H.Y., Trottier, Y., Tora, L., Devys, D. PLoS Biol. (2006) [Pubmed]
  10. Identification and characterization of Spinocerebellar Ataxia Type 7 (SCA7) isoform SCA7b in mice. Ström, A.L., Forsgren, L., Holmberg, M. Biochim. Biophys. Acta (2005) [Pubmed]
 
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