In vivo deletion of a GWAS-identified Myb distal enhancer acts on Myb expression, globin switching, and clinical erythroid parameters in β-thalassemia.

doi:10.1038/s41598-025-94222-8

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Article

In vivo deletion of a GWAS-identified Myb distal enhancer acts on Myb expression, globin switching, and clinical erythroid parameters in β-thalassemia.

Scientific reports - 15 Mar 2025

Deleuze Virginie, Stephen Tharshana, Salma Mohammad, Orfeo Cédric, Jorna Ruud, Maas Alex, Barroca Vilma, Arcangeli Marie-Laure, Lecellier Charles-Henri, Andrieu-Soler Charlotte, Grosveld Frank, Soler Eric

Abstract excerpt

Genome-wide association studies (GWAS) have identified numerous genetic variants linked to human diseases, mostly located in non-coding regions of the genome, particularly in putative enhancers. However, functional assessment of the non-coding GWAS variants has progressed at slow pace, since the functions of the vast majority of genomic enhancers have not been defined, impeding interpretation of...

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Topics

beta-Thalassemia
Animals
Enhancer Elements, Genetic
Genome-Wide Association Study
Mice

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Humans

Mice, Knockout

Erythropoiesis

Proto-Oncogene Proteins c-myb

Fetal Hemoglobin

Polymorphism, Single Nucleotide

Disease Models, Animal

Gene Expression Regulation

Source

Open in PubMed Open full text

Identifiers

PMID: 40089598
DOI: 10.1038/s41598-025-94222-8
PMCID: PMC11910609

Genes

MYB
HBS1L

Provenance

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