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

ABSTRACT:

Background

The majority of genes in the human genome is present in two copies but the expression levels of both alleles is not equal. Allelic imbalance is an aspect of gene expression relevant not only in the context of genetic variation, but also to understand the pathophysiology of genes implicated in genetic disorders, in particular, dominant genetic diseases where patients possess one normal and one mutant allele. Polyglutamine (polyQ) diseases are caused by the expansion of CAG trinucleotide tracts within specific genes. Spinocerebellar ataxia type 3 (SCA3) and Huntington's disease (HD) patients harbor one normal and one mutant allele that differ in the length of CAG tracts. However, assessing the expression level of individual alleles is challenging due to the presence of abu

SUBMITTER: Joachimiak P 

PROVIDER: S-EPMC9893648 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature