Landscape and mutational dynamics of G-quadruplexes in the complete human genome and in haplotypes of diverse ancestry.

ABSTRACT: G-quadruplexes (G4s) are alternative DNA structures with diverse biological roles, but their examination in highly repetitive parts of the human genome has been hindered by the lack of reliable sequencing technologies. Recent long-read based genome assemblies have enabled their characterization in previously inaccessible parts of the human genome. Here, we examine the topography and genomic instability of potential G4-forming sequences in the gap-less, reference human genome assembly and in 88 haplotypes of diverse ancestry. We report that G4s are highly enriched in specific repetitive regions, including in certain centromeric and pericentromeric repeat types, and in ribosomal DNA arrays, and experimentally validate the most prevalent G4s detected. G4s tend to have lower methylation than e

SUBMITTER: Chantzi N 

PROVIDER: S-EPMC12262261 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature