Ataxin-3 pre-messenger RNA (ATXN3 pre-mRNA)

Ataxin-3 pre-messenger RNA is the primary transcript produced from the ATXN3 gene, comprising 11 exons and encoding the full-length ataxin-3 protein. This RNA undergoes splicing wherein exonic or intronic sequences may be removed or included to produce mature mRNA. In spinocerebellar ataxia type 3 (SCA3), expanded CAG repeats within exon 10 encode a toxic polyglutamine stretch in ataxin-3 protein. Therapeutic strategies target ATXN3 pre-mRNA—using antisense drugs to modify splicing patterns and excise pathogenic exons or polyQ repeats, aiming to generate truncated but less toxic protein variants. The precursor RNA itself is not a functional protein or receptor, but is a valid molecular target because manipulation at this level can prevent pathogenesis caused by the protein product.

Other names

ATXN3 precursor transcriptATXN3 primary transcriptATXN3 mRNA (when context implies unspliced pre-mRNA)

Exon skipping by AONs or PMOs: binding to pre-mRNA to sterically hinder splicing proteins, resulting in exclusion of exons encoding pathogenic polyglutamine tracts