Ask about this productRelated genes to: BCL11A antibody
- Gene:
- BCL11A NIH gene
- Name:
- BAF chromatin remodeling complex subunit BCL11A
- Previous symbol:
- EVI9
- Synonyms:
- BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856
- Chromosome:
- 2p16.1
- Locus Type:
- gene with protein product
- Date approved:
- 2001-02-28
- Date modifiied:
- 2019-01-25
Related products to: BCL11A antibody
Related articles to: BCL11A antibody
- The thymus is vital for T cell development, yet avian thymocyte maturation remains poorly characterized. Here, we present a single-cell transcriptomic atlas of thymic development in Zhedong White geese across embryonic, gosling, juvenile, and adult stages. Morphological and histological analysis revealed a multilobulated, paired thymus with rapid post-hatch expansion and age-dependent involution. Single-cell RNA sequencing identified all major thymic cell types, with T cells predominant and γδ T cells unusually abundant compared to mammals. High-resolution profiling defined key T cell subsets and reconstructed sequential differentiation, showing DN cells transition from pre-commitment states marked by BCL11A, SPI1, and HHEX to committed states (BCL11B, TCF7) and β-selection gene activation. Thymic epithelial cells functioned as central signaling hubs, mediating microenvironmental regulation. Comparative analysis with human and mouse thymus revealed a conserved developmental framework, yet pronounced species-specific differences at the DP stage and in γδ T cell enrichment. These findings contribute foundational insights for avian immunology and poultry breeding. - Source: PubMed
Publication date: 2026/04/17
Wang CuiZhu ZuoyinLiu YiYang YongpingChen ShufangHe Daqian - Elevated erythropoietin (EPO) concentration associates with thrombotic risk in hypoxic conditions, hereditary erythrocytosis and treatment of anaemia with recombinant EPO. We evaluated sickle cell disease (SCD) patients from the University of Illinois at Chicago (UIC) and the Treatment of Pulmonary Hypertension and SCD with Sildenafil Therapy (Walk-PHaSST) study and found that higher serum EPO concentration associated with increased thromboembolic risk (combined odds ratio [OR] = 1.9, p = 0.0029, N = 557). Percent haemoglobin F and haemoglobin concentration strongly correlated with EPO concentration in SCD, and the haemoglobin F locus BCL11A affected EPO concentration through percent haemoglobin F. In peripheral blood mononuclear cells from 159 UIC patients, we identified an expression quantitative trait locus for EPOR encoding EPO receptor, in which the G allele of rs322139 associated with higher EPOR expression (β = 0.055, p = 2.0 × 10). This G allele associated with lower EPO concentration in Walk-PHaSST (β = -0.23, p = 6.4 × 10, N = 327) and UIC (β = -0.18, p = 0.017, N = 179), but not in normal populations. The G allele of rs322139 also associated with a trend to decreased thromboembolism (combined OR = 0.64, p = 0.054, N = 665). In summary, our study indicates that higher serum EPO concentration associates with thromboembolic risk in SCD and reveals a novel role of EPOR expression variation in modulating EPO concentration and, possibly, thromboembolic risk in this condition. - Source: PubMed
Publication date: 2026/04/29
Zhang XuShah Binal NHan JinNouraie MehdiZhang YingzeMachado Roberto FGladwin Mark TSaraf Santosh LGordeuk Victor R - First-generation genome editing therapies have largely focused on correcting or compensating for pathogenic variants. However, as these approaches enter the clinic, emerging biological constraints limit maximal therapeutic impact. Because globin genes are activated late during erythroid differentiation, genome-corrected hematopoietic stem and progenitor cells (HSPCs) gain little selective advantage in the bone marrow. Here, we establish a strategy that links therapeutic genome edits to an erythroid fitness-enhancing allele to amplify the output of clinically relevant cells. We develop a multiplex base editing strategy that couples fetal hemoglobin (HbF) reactivation with erythroid lineage expansion. Introduction of a naturally occurring erythropoietin receptor truncation ( ) associated with benign erythrocytosis increased erythroid cell production without impairing viability or differentiation. Combinatorial editing of together with the erythroid enhancer and promoters in healthy donor, sickle cell disease, and β-thalassemia HSPCs synergistically increased erythroid proliferation and HbF expression beyond single base-edited or Casgevy-treated controls. Multiplex base-edited HSPCs retained long-term lineage repopulation and engraftment capacity , establishing a modular strategy that pairs disease correction with lineage amplification to improve therapeutic potency. - Source: PubMed
Publication date: 2026/04/14
Jia KunSoupene EricSinha RoshaniLesch Benjamin JPendergast Michael AChoi RachelZhang XinyiFoppiani Elisabetta MKostamo ZacharyChu Simon NSharma DeveshYu XinjieCordero MarcoWalters Mark CMacKenzie Tippi CSheehan Vivien ACromer M Kyle - Hemoglobin H (HbH) disease is a subtype of α-thalassemia typically caused by genetic defects in three out of four α-globin genes. To date, the genetic factors contributing to the highly heterogeneous clinical severity of HbH disease remain largely unknown. In this study, we perform targeted long-read sequencing (T-LRS) on a cohort of 591 HbH patients, aiming to profile the genomic variants and their haplotypes within the α/β-globin gene clusters and key erythroid genes. Phenotypic analysis confirms that non-deletional HbH patients generally exhibit more severe clinical manifestations compared to deletional ones. Moreover, we identify the co-inheritance of β-thalassemia mutations to be a mitigating factor for HbH patients, as reflected by higher hemoglobin levels and lower serum ferritin, suggesting the less imbalanced synthesis of α/β-globin among these patients. Furthermore, through haplotype phasing using long-sequencing reads, we find a haplotype of HS40 associated with milder clinical symptoms of HbH patients, validated by reporter gene assay, and that functional mutations in erythroid transcription factors BCL11A and MYB-HBS1L exert significant effects on β-thalassemia but not on HbH patients. This study presents the largest T-LRS study for α-thalassemia patients, which may provide insight into precise clinical diagnosis and phenotyping of HbH diseases. - Source: PubMed
Publication date: 2026/04/24
Ye YuhuaNiu ChaoMao AipingChen LiQin LangChen WeijieLiu ZhentianXie TiantianLong YongShang XuanHuang YushanZhang QianqianChen LibaoLuo HualeiLi YihongLu YulinLiu YumengLiao LiuhuaCai JunqinLiu RiyangZhang XinhuaZeng LihongLi YaoyunChen JianhongZhong ZeyanFang JianpeiLi XinyuYang XingkunLin BinLi KuiHua XiaoyunHuang BinbinQin HongguiHuang YueyanHuang ZhijingLao JinquanQu XiangChen JuanjuanFeng XiaoqinLiu QiujunLin WanyingZhou XiaomanLiang YidanLong XingjiangQin JiaofengYan LixiangZhu WeijianYu LianFan ChengwuTang DeguoZhong TianyuTan JufangRen ZhilinGao YangXu Xiangmin - β-thalassemia is a common inherited hemoglobin disorder caused by reduced or absent β-globin production, leading to ineffective erythropoiesis, chronic anemia, and, in severe cases, lifelong transfusion dependence. Although allogeneic hematopoietic stem cell transplantation can be curative, its use is limited by donor availability and transplant-related complications. In recent years, gene therapy has emerged as a promising alternative and has rapidly changed the treatment landscape for β-thalassemia. In this review, we summarize both established and emerging gene-based strategies, including lentiviral gene addition to restore HBB expression and gene editing approaches aimed at reactivating fetal hemoglobin. We discuss key targets such as the erythroid-specific BCL11A enhancer, repressor-binding sites in the HBG promoters, and other regulatory elements involved in globin switching. We also highlight the growing potential of newer technologies such as base editing and prime editing, which may offer greater precision and reduce the risks associated with double-strand DNA breaks. Finally, we address the major challenges that still need to be resolved, including safety, durability, technical complexity, and access to treatment. Overall, gene therapy is moving β-thalassemia closer to a broadly applicable curative approach. - Source: PubMed
Publication date: 2026/04/23
Liang DongguoSchmidt-Wolf Ingo G HPu Jingjing