Short tandem repeat variants are possibly associated with RNA secondary structure and gene expression.

ABSTRACT: Short tandem repeats (STRs) are abundant in the human genome with approximately 300,000 embedded in gene introns, exons, and untranslated regions. High penetrance STR variants cause human diseases such as Myotonic dystrophy, Baratela-Scott syndrome, and various ataxias. The possibility that STRs contribute to polygenic disease is supported by recent high-powered datasets that link STRs to more subtle effects on gene expression. Indeed, STR variants can induce Z-DNA and H-DNA folding; alter nucleosome positioning; and change the spacing of DNA binding sites. On the other hand, little is known about how STR variants affect RNA secondary structure and accessibility. These factors could affect rates of splicing, nuclear export, and translation. We hypothesize that effects on RNA structure can

SUBMITTER: Kinney N 

PROVIDER: S-EPMC12176206 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature