BCL11A-deficient human erythropoiesis is impaired in vitro and after xenotransplantation into mice.

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Tác giả: Yong Cheng, Ruopeng Feng, Jeffrey Michael Gossett, Yoonjeong Jang, Guolian Kang, Kalin Mayberry, Thiyagaraj Mayuranathan, Lance E Palmer, Mitchell J Weiss, Jian Xu, Yu Yao, Jonathan S Yen, Sheng Zhou

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: United States : Blood advances , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 728614

 Genetic depletion of the transcriptional repressor BCL11A in red blood cell precursors alleviates b-hemoglobinopathies by inducing the fetal g-globin genes. However, additional erythroid genes are regulated by BCL11A and the effects of its deficiency on erythropoiesis are insufficiently described. We discovered that Cas9 disruption of the BCL11A intron 2 erythroid enhancer in CD34+ hematopoietic stem and progenitor cells using a clinically approved strategy caused impaired expansion and apoptosis of erythroid precursors in vitro and reduced repopulation of the erythroid compartment after xenotransplantation into immunodeficient mice. Mutant colony-forming unit erythroid cells, proerythroblasts and basophilic erythroblasts exhibited dysregulation of 94 genes (>
  2-fold change, FDR <
  0.05), 25 of which are likely direct targets of BCL11A. Differentially expressed genes were associated with a range of biological pathways that impact cell expansion and survival. Our findings show that BCL11A regulates additional aspects of erythropoiesis beyond g-globin gene repression, with unknown clinical consequences.
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