New alternative splicing variants of the ATXN2 transcript

  • Lastres-Becker I
  • Nonis D
  • Nowock J
  • et al.
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Abstract

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant disorder with progressive degeneration of cerebellar Purkinje cells and selective loss of neurons in the brainstem. This neurodegenerative disorder is caused by the expansion of a polyglutamine domain in ataxin-2. Ataxin-2 is composed of 1312 amino acids, has a predicted molecular weight of 150-kDa and is widely expressed in neuronal and non-neuronal tissues. To date, the putative functions of ataxin-2 on mRNA translation and endocytosis remain ill-defined. Differential splicing with a lack of exons 10 and 21 was described in humans, and additional splicing of exon 11 in mice. In this study, we observed that the molecular size of transfected full-length wild-type ataxin-2 (22 glutamines) is different from endogenous ataxin-2 and that this variation could not be explained by the previously published splice variants alone.

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Lastres-Becker, I., Nonis, D., Nowock, J., & Auburger, G. (2019). New alternative splicing variants of the ATXN2 transcript. Neurological Research and Practice, 1(1). https://doi.org/10.1186/s42466-019-0025-1

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