A tetramer of BCL11A is required for stable protein production and fetal hemoglobin silencing

Science. 2024 Nov 29;386(6725):1010-1018. doi: 10.1126/science.adp3025. Epub 2024 Nov 28.

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. Because of reliance on ex vivo cell manipulation and marrow transplant, such therapies cannot lessen disease burden. To develop new small-molecule approaches, we investigated 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, because an engineered monomer fails to engage a critical co-repressor complex. These aspects of BCL11A protein production identify tetramer formation as a vulnerability for HbF silencing and provide opportunities for drug discovery.

MeSH terms

  • Animals
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism
  • Erythroid Cells / metabolism
  • Fetal Hemoglobin* / biosynthesis
  • Fetal Hemoglobin* / genetics
  • Fetal Hemoglobin* / metabolism
  • Gene Silencing
  • Humans
  • Mice
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism
  • Protein Multimerization*
  • Protein Stability
  • Repressor Proteins* / genetics
  • Repressor Proteins* / metabolism
  • Zinc Fingers*
  • gamma-Globins* / genetics
  • gamma-Globins* / metabolism

Substances

  • Fetal Hemoglobin
  • BCL11A protein, human
  • Repressor Proteins
  • gamma-Globins
  • Carrier Proteins
  • Nuclear Proteins