BubR1通过促进心脏生成调节者的表达来控制心脏发育
Renju Pun1, Aradhana Thapa1, Sylar R Takafuji1
1Biomedical Sciences Department Creighton University School of Medicine Omaha NE USA.
Journal of the American Heart Association
|March 7, 2025
概括
BubR1 (BUB1B) 对于心脏发育至关重要. 由于严重的心脏缺陷和心肌细胞分化受损,其缺乏会导致胚胎死亡,突出显示BubR1.
科学领域:
- 心血管生物学 心血管生物学
- 发展生物学 发展生物学
- 遗传学 是一个遗传学.
背景情况:
- 先天性心脏缺陷 (CHD) 是一种常见的出生异常.
- 无质症,包括与Bub1b突变相关的马赛克多彩无质症综合征,是心血管疾病的危险因素.
- 通过Bub1b突变导致CHD的确切机制尚未完全理解.
研究的目的:
- 研究BubR1在心脏发育中的作用.
- 为了阐明马赛克多彩色形症候群中先天性心脏缺陷的分子基础.
主要方法:
- 使用条件等位基和Nkx2.5-cre.生成心脏特异的BubR1淘汰赛小鼠.
- 在发育中的心脏上进行单细胞RNA测序.
- 利用轨迹和CellChat分析来评估差异化和信号通路.
主要成果:
- 心脏特异性的BubR1删除导致胚胎死亡,心脏成熟有缺陷,包括隔离和腔室发育.
- 单细胞转录组学揭示了抑制心脏发生基因表达和破坏心肌细胞分化.
- 在绝杀心脏中观察到Wnt信号的过度激活,这表明组织形态发生中断.
结论:
- BubR1对于正确的心脏发育和体内形态发生是必不可少的.
- BubR1确保了心脏发育的正确时间,其缺乏导致严重的心脏形.
更多相关视频
相关概念视频
Regulation of Angiogenesis and Blood Supply
2.5K
Rapidly dividing tumors, embryos, and wounded tissues require more oxygen than usual, lowering the oxygen concentration in the blood. At low oxygen or hypoxic conditions, an oxygen-sensitive transcription factor called the hypoxia-inducible factor 1 or HIF1 is activated. HIF1 is a dimeric protein of alpha (ɑ) and beta (β) subunits. Under optimal oxygen conditions, HIF1β is present in the nucleus while HIF1ɑ remains in the cytosol. HIF1ɑ is hydroxylated by prolyl...
2.5K
Master Transcription Regulators
6.8K
Master transcription regulators are regulatory proteins that are predominantly responsible for regulating the expression of multiple genes. Often these genes work in concert to drive a complex process. Activation of a master transcription regulator can lead to a cascade of transcriptional activation necessary for that outcome. These regulators can directly bind to the regulatory sequences of the various genes involved, or they can indirectly regulate transcription by binding to regulatory...
6.8K
Development of the Heart
803
The development of the human heart, a crucial organ, commences from the mesoderm on the 18th or 19th day after fertilization. This process initiates in the cardiogenic area, a group of mesodermal cells at the embryo's head end, which evolves into elongated strands known as cardiogenic cords. These cords undergo a transformation to form hollow-centered endocardial tubes.
As the embryo undergoes lateral folding, these paired tubes approach each other, merging into a single primitive heart...
As the embryo undergoes lateral folding, these paired tubes approach each other, merging into a single primitive heart...
803
Combinatorial Gene Control
8.3K
Combinatorial gene control is the synergistic action of several transcriptional factors to regulate the expression of a single gene. The absence of one or more of these factors may lead to a significant difference in the level of gene expression or repression.
The expression of more than 30,000 genes is controlled by approximately 2000-3000 transcription factors. This is possible because a single transcription factor can recognize more than one regulatory sequence. The specificity in gene...
The expression of more than 30,000 genes is controlled by approximately 2000-3000 transcription factors. This is possible because a single transcription factor can recognize more than one regulatory sequence. The specificity in gene...
8.3K
Hedgehog Signaling Pathway
7.3K
The Hedgehog gene (Hh) was first discovered due to its control of the growth of disorganized, hair-like bristles phenotype in Drosophila, much like hedgehog spines. Hh plays a crucial role in the development of organs and the maintenance of homeostasis in both invertebrates and vertebrates. However, while Drosophila has only one Hh protein, mammals have multiple functional Hedgehog proteins - Sonic (Shh), Desert (Dhh), and Indian Hedgehog (Ihh). All of these homologous proteins have adapted to...
7.3K


