Language

English

Publication Date

11-29-2024

Journal

Science

DOI

10.1126/science.adp3025

PMID

39607926

PMCID

PMC12924673

PubMedCentral® Posted Date

2-22-2026

PubMedCentral® Full Text Version

Author MSS

Abstract

Down-regulation of BCL11A protein reverses the fetal (HbF, α2γ2) to adult (HbA, α2β2) hemoglobin switch and is exploited in gene-based therapy for hemoglobin disorders. Due to reliance on ex vivo cell manipulation and marrow transplant, such therapies cannot lessen disease burden. To develop novel small molecule approaches, we interrogated the state of BCL11A protein in erythroid cells. We report that tetramer formation mediated by a single zinc-finger (ZnF0) is required for production of steady-state protein. Beyond its role in protein stability, the tetramer state is necessary for γ-globin gene repression, as an engineered monomer fails to engage a critical corepressor complex. These aspects of BCL11A protein production identify tetramer formation as a vulnerability for HbF silencing, and provide opportunities for drug discovery.

Keywords

Animals, Humans, Mice, Erythroid Cells, Fetal Hemoglobin, gamma-Globins, Gene Silencing, Nuclear Proteins, Protein Multimerization, Protein Stability, Repressor Proteins, Zinc Fingers

Published Open-Access

yes

Share

COinS
 
 

To view the content in your browser, please download Adobe Reader or, alternately,
you may Download the file to your hard drive.

NOTE: The latest versions of Adobe Reader do not support viewing PDF files within Firefox on Mac OS and if you are using a modern (Intel) Mac, there is no official plugin for viewing PDF files within the browser window.