DNA polymerase stalling at structured DNA constrains the expansion of short tandem repeats.

ABSTRACT:

Background

Short tandem repeats (STRs) contribute significantly to de novo mutagenesis, driving phenotypic diversity and genetic disease. Although highly diverse, their repetitive sequences induce DNA polymerase slippage and stalling, leading to length and sequence variation. However, current studies of DNA synthesis through STRs are restricted to a handful of selected sequences, limiting our broader understanding of their evolutionary behaviour and hampering the characterisation of the determinants of their abundance and stability in eukaryotic genomes.

Results

We perform a comprehensive analysis of DNA synthesis at all STR permutations and interrogate the impact of STR sequence and secondary structure on their genomic representation and mutability. To do this, we developed

SUBMITTER: Murat P 

PROVIDER: S-EPMC7441554 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature