
HBG2 Gene - GeneCards | HBG2 Protein | HBG2 Antibody
2024年12月25日 · HBG2 (Hemoglobin Subunit Gamma 2) is a Protein Coding gene. Diseases associated with HBG2 include Cyanosis, Transient Neonatal and Fetal Hemoglobin Quantitative Trait Locus 1. Among its related pathways are p70S6K Signaling and Response to elevated platelet cytosolic Ca2+.
CRISPR-Cas9 Editing of the HBG1 and HBG2 Promoters to Treat …
2023年8月30日 · Sickle cell disease is an autosomal recessive disorder caused by mutations in the gene HBB, which encodes the β-globin subunit of adult hemoglobin (α 2 β 2). 1 The most common...
An engineered β-globin homology donor reveals insights into β …
4 天之前 · The authors replaced HBB introns with HBG2 introns and truncated HBG intron-2 to 147 bp, in addition to codon-wobbling the HBB exons. Together, these modifications significantly reduced the size of the donor HBB gene template and avoided sequence homology with the endogenous HBB gene without compromising high levels of β-globin expression. The rationale behind this approach was to reduce ...
A unified model of human hemoglobin switching through …
2021年8月17日 · Key mechanisms of fetal hemoglobin (HbF) regulation and switching have been elucidated through studies of human genetic variation, including mutations in the HBG1/2 promoters, deletions in the...
Potent and uniform fetal hemoglobin induction via base editing
2023年7月3日 · Inducing fetal hemoglobin (HbF) in red blood cells can alleviate β-thalassemia and sickle cell disease. We compared five strategies in CD34 + hematopoietic stem and progenitor cells, using either...
Activation of γ-globin expression by hypoxia-inducible factor 1α
2022年10月12日 · Mutually exclusive expression of the γ-globin (HBG1 and HBG2, referred to together as HBG) or β-globin (HBB) genes in the β-like globin gene cluster is regulated by competition for the locus...
Editing a γ-globin repressor binding site restores fetal hemoglobin ...
HbF mainly contained A γ (HBG1) rather than G γ (HBG2) chains, which could be explained by loss of HBG2 caused by the 4.9-kb deletion (fig. S2F). Moreover, cells carrying the 4.9-kb deletion may reactivate more potently γ-globin expression, as the HBG1-HBG2 intervening sequence might contain cis regulatory elements that repress HBG ...
NEJM:CRISPR-Cas9编辑HBG1和HBG2启动子治疗镰状细胞
2023年9月6日 · 镰状细胞性贫血是一种常染色体隐性遗传病,由编码成人血红蛋白β-珠蛋白亚基(α2β2)的HBB基因突变引起。 最常见的镰状细胞病突变导致第六位原本的谷氨酸被替换成缬氨酸,导致镰状血红蛋白(α2βs2)的产生,镰状血红蛋白在低氧浓度下聚合,红细胞呈镰状、坚硬而脆弱,导致微 血管 出现闭塞、溶血和炎症。 镰状细胞性贫血患者存在慢性贫血、复发性疼痛、进行性多器官损伤和早期死亡风险增加。 其治疗包括使用羟基脲、抗P-选择素人源化单克隆抗体 …
基因编辑之首战—SCD - 雪球
2021年1月17日 · 经过进一步研究发现,hbg基因负责产生hbf,当人类六个月大时,另一个基因bcl11a会启动,生成bcl11a蛋白关闭hbg基因,由hbb基因接管产生hbb。 由于一代CRISPR最善于搞破坏,将基因KO(通过产生indel)。
HBG2 - Wikipedia
Hemoglobin subunit gamma-2 is a protein that in humans is encoded by the HBG2 gene. [5] The gamma globin genes (HBG1 and HBG2, this gene) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth.