PXD063882

PXD063882 is an original dataset announced via ProteomeXchange.

Title	DNA G-quadruplex structures act as functional elements in - and -globin enhancers
Description	Enhancer elements interact with target genes at a distance to modulate their expression, but the molecular details of enhancer-promoter interaction are incompletely understood. G-quadruplex DNA secondary structures (G4s) have recently been shown to co-occur with 3D chromatin interactions, however, the functional importance of G4s within enhancers remains unclear. Results: In this study we identify novel G4 structures within two locus control regions at the human - and - globin loci. We find that mutating G4 motifs by genome editing prevents their folding into G4 structures in cells and disrupts 3D enhancer-promoter interactions and target gene expression in a manner comparable to whole enhancer deletion. Furthermore, restoration of G4 structure formation using a dissimilar G4-forming primary sequence recovers specific enhancer-gene interactions and gene expression. Through proteomic, biophysical, and genomic profiling, we find that enhancer G4s are tightly linked to the maintenance of an active chromatin state and RNA polymerase II recruitment to regulate target gene expression.
HostingRepository	PRIDE
AnnounceDate	2025-06-05
AnnouncementXML	Submission_2025-06-05_04:09:06.785.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Clive D'Santos
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	No PTMs are included in the dataset
Instrument	Q Exactive HF

Revision	Datetime	Status	ChangeLog Entry
0	2025-05-13 04:17:38	ID requested
⏵ 1	2025-06-05 04:09:07	announced

10.1186/S13059-025-03627-1;

submitter keyword: G-quadruplex structures,Enhancers, epigenetics, 3D chromatin interactions

Colm Doyle
contact affiliation	Shankar Balasubramanian Lab University of Cambridge
contact email	colm.doyle@cruk.cam.ac.uk
lab head
Clive D'Santos
contact affiliation	Cambridge University
contact email	clivesdsantos@gmail.com
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD063882
     1. Label: PRIDE project
     2. Name: DNA G-quadruplex structures act as functional elements in - and -globin enhancers