Mammalian conservation of endogenous G-quadruplex reveals their associations with complex traits.

ABSTRACT:

Background

DNA G-quadruplexes (G4s) are four-stranded DNA structures. Endogenous G-quadruplexes (eG4s) have been identified as pivotal regulatory elements for gene expression in the human genome. The measurement of evolutionary conservation can be employed to ascertain the functional relevance of putative regulatory elements. However, the evolutionary profiles of human eG4s remain largely unknown.

Results

Here, we construct mammalian evolutionary profiles of human eG4s based on a comprehensive reference annotation of human eG4s from the integration of the eG4 database EndoQuad covering 41 human cell lines and our home-made G4 CUT&Tag data covering seven cell lines. We find that transposable elements contribute substantially to the evolutionary spread of primate-specific eG4s

SUBMITTER: Zhang ZH 

PROVIDER: S-EPMC12400650 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature