Allele-specific quantitation of ATXN3 and HTT transcripts in polyQ disease models


Using allele-specific ddPCR assays, we observed differences in allele expression levels in the context of SCA3 and HD. Our allele-selective approach is a reliable and quantitative method to analyze low abundant transcripts and is performed with high accuracy and reproducibility. Therefore, the use of this approach can significantly improve understanding of allele-related mechanisms, e.g., related with mRNA processing that may be affected in polyQ diseases. © 2023. The Author(s).

Authors Joachimiak P, Ciesiołka A, Kozłowska E, Świtoński PM, Figura G, Ciołak A, Adamek G, Surdyka M, Kalinowska-Pośka Ż, Figiel M, Caron NS, Hayden MR, Fiszer A
Journal BMC biology
Publication Date 2023 Feb 1;21(1):17
PubMed 36726088
PubMed Central PMC9893648
DOI 10.1186/s12915-023-01515-3

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