ARID1A-BAF协调ZIC2基因组占用,用于表皮细胞到介质细胞的过渡,在头骨神经的规范
Samantha M Barnada1, Aida Giner de Gracia2, Cruz Morenilla-Palao2
1Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA, USA.
American journal of human genetics
|September 3, 2024
概括
ARID1A-BAF复合体和ZIC2对于神经细胞 (CNCC) 发育至关重要. ARID1A-haploinsufficiency 干扰了表皮细胞到介质细胞的过渡 (EMT),影响了 CNCC 的分层和迁移.
科学领域:
- 发展生物学 发展生物学
- 遗传学 是一个遗传学.
- 细胞生物学 细胞生物学
背景情况:
- BAF染色体重塑器对于血统承诺至关重要,包括神经细胞 (CNCC) 规范.
- 在BAF子单元中的变异,特别是ARID1A/ARID1B,导致棺材-西里斯综合征 (CSS),这是一个带有面异常和智力障碍的疾病.
研究的目的:
- 研究ARID1A在CNCC规范中的作用.
- 阐明了ARID1A相关发育缺陷背后的分子机制.
主要方法:
- 利用CSS患者衍生的ARID1A+/-诱导的多能干细胞来模拟CNCC规范.
- 分析了ARID1A-BAF对基因调节元件 (增强剂和促进剂) 的结合.
- 使用小鼠和小模型研究ZIC2结合及其对ARID1A的依赖.
主要成果:
- ARID1A-haploinsufficiency 损害了上皮细胞到介质酶过渡 (EMT),这是CNCC分层和迁移的关键步骤.
- ARID1A-BAF调节EMT基因增强剂,在ARID1A异构菌中结合功能受损.
- 在EMT增强剂中依赖ARID1A的ZIC2结合是必不可少的;它的错位触发了异常的神经元基因激活.
结论:
- 一个ARID1A-ZIC2轴对于调节EMT和CNCC分层是必不可少的.
- 这个轴的调节失调有助于面发育障碍的发病,如CSS.
关键词:
在 ARID1A 里面.在BAF中,BAF是BAF.棺材-西里斯综合征是什么?在 SWI/SNF 中.在ZIC2中,ZIC2是ZIC2.头骨神经的神经峰.表皮细胞到介质细胞的过渡.5型全神经大脑病5型全神经大脑病这些是iPSCs.更多相关视频
相关概念视频
Determination
18.3K
During embryogenesis, cells become progressively committed to different fates through a two-step process: specification followed by determination. Specification is demonstrated by removing a segment of an early embryo, “neutrally” culturing the tissue in vitro—for example, in a petri dish with simple medium—and then observing the derivatives. If the cultured region gives rise to cell types that it would normally generate in the embryo, this means that it is specified. In...
18.3K
Cadherins in Tissue Organization
3.0K
The cadherins are a superfamily of cell adhesion molecules comprising over 180 variants, with specific tissues expressing a particular combination of cadherin types. Cadherins generally exhibit homophilic binding; i.e., cadherins on one cell bind to cadherins of the same or closely related type on another cell. Thus, cells of the same type have a specific affinity to bind to each other and sort themselves into clusters to form tissues.
Cell Sorting During Development
Cell sorting plays an...
Cell Sorting During Development
Cell sorting plays an...
3.0K
Cis-regulatory Sequences
9.8K
Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
9.8K
Cell Motility through Blebbing
1.9K
Blebs are a type of membrane protrusion formed by the internal hydrostatic pressure of the cytoplasm. Blebs are observed in several cell types, including fibroblasts, immune cells, and single-celled organisms like the amoeba. The primary function of blebs is cell locomotion and apoptosis, but they are also found during necrosis and cell division. The life cycle of a bleb comprises an initiation phase followed by the expansion and retraction phases.
Blebbing Through the Matrix
In multicellular...
Blebbing Through the Matrix
In multicellular...
1.9K


