Evolutionary dynamics of predicted G-quadruplexes in human and other great apes.

ABSTRACT:

Background

G-quadruplexes (G4s) are non-canonical DNA structures that can form at approximately 1% of the human genome. They facilitate genomic instability by increasing point mutations and structural variation. Numerous G4s participate in telomere maintenance and regulating transcription and replication, and evolve under purifying selection. Despite these important functions, G4s have remained under-studied in human and ape genomes due to incomplete assemblies.

Results

Here, we conduct a comprehensive analysis of predicted G4s (pG4s) in the recently released, telomere-to-telomere (T2T) genomes of human, bonobo, chimpanzee, gorilla, Bornean orangutan, and Sumatran orangutan. We annotate 41,232-174,442 new pG4s in these T2T compared to previous ape genome assemblies (5%-21% i

SUBMITTER: Mohanty SK 

PROVIDER: S-EPMC12153182 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature