Identification of alternative splicing of spinocerebellar ataxia type 2 gene

Gene
A AffaitatiS Varrone

Abstract

Spinocerebellar ataxia 2 (SCA-2) is a neurodegenerative disorder caused by the expansion of an unstable CAG/polyglutamine repeat located at the NH(2)-terminus of ataxin-2 protein. Ataxin-2 is composed by 1312 aminoacids and it is expressed ubiquitously in human tissues. To date, the function of ataxin-2 is not known. In this study, we report the characterization of an alternative splice variant of human ataxin-2. The splice transcript lacks the exon 21 and connects exon 20 to exon 22 with the same reading frame of the full length mRNA. This novel isoform of ataxin-2 is conserved in the mouse. It is named type IV to differentiate it from type II splice variant lacking exon 10 (present in human and mouse cDNAs) and from type III, lacking exon 10 and exon 11 seen in mouse. Type IV of human ataxin-2 cDNA is predicted to encode a protein of 1294 residues. Both the full length and the type IV transcript of ataxin-2 are present in several human tissues, including brain, spinal cord, cerebellum, heart and placenta. These findings allow the hypothesis that type I, II and IV of human ataxin-2 might perform different functions.

References

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Citations

Aug 29, 2009·Neurogenetics·Conceição BettencourtManuela Lima
Apr 18, 2008·The Cerebellum·Isabel Lastres-BeckerGeorg Auburger
May 28, 2014·The Journal of Cell Biology·Dipen RajgorCatherine M Shanahan
Nov 1, 2008·Experimental Neurology·Simone van de LooJoachim Nowock
Oct 21, 2004·Brain Research·Victor J TurnbullLouise Kelly
Jul 21, 2015·Nature Neuroscience·Mercedes PrudencioLeonard Petrucelli
Jul 3, 2019·Neurological Research and Practice·Isabel Lastres-BeckerGeorg Auburger

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