相关实验视频
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Observing Mitotic Division and Dynamics in a Live Zebrafish Embryo
Published on: July 15, 2016
康奈莉亚·德朗格综合征中的HDAC8突变会影响凝聚素乙化循环
Matthew A Deardorff1, Masashige Bando, Ryuichiro Nakato
1Division of Human Genetics and Molecular Biology, The Children’s Hospital of Philadelphia, Pennsylvania 19104, USA. deardorff@email.chop.edu
Nature
|August 14, 2012
概括
康尼莉亚·德朗格综合征 (CdLS) 与HDAC8突变有关,HDAC8是一种脱乙基化SMC3.3的蛋白质. HDAC8功能的丧失导致SMC3乙化增加,影响CdLS患者的凝聚功能和基因调节.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 发展生物学 发展生物学
背景情况:
- 康尼利亚·德朗格综合征 (CdLS) 是一种遗传性疾病,导致先天性形.
- 在NIPBL和凝聚素成分中的突变导致CdLS.
- 凝聚素复合体调节基因表达和姐妹染色体凝聚力.
研究的目的:
- 确定脊椎动物的SMC3脱乙酶.
- 研究HDAC8在CdLS发病过程中的作用.
主要方法:
- 确定HDAC8为脊椎动物SMC3脱乙酶.
- 在CdLS试验中分析了功能丧失的HDAC8突变.
- 执行了染色体免疫沉测序 (ChIP-seq).
主要成果:
- 在6名CdLS试验者中发现了功能丧失的HDAC8突变.
- 缺乏HDAC8导致SMC3乙化增加和凝聚素溶解受损.
- 改变的SMC3乙化会影响凝聚素负载和基因转录.
结论:
- HDAC8对于适当的凝聚功能至关重要,并与CdLS有关.
- 通过破坏SMC3脱乙烯化,HDAC8突变有助于CdLS.
- 这些发现揭示了CdLS背后的一种新机制,并突出了治疗目标.
相关概念视频
Cohesins
Cohesin protein complexes are a molecular glue that holds two sister chromatids together. They play an important role both in mitosis and meiosis. In mitosis, all cohesin complexes present on the chromosomes are removed before the start of the anaphase stage.
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of homologous...
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of homologous...
Cohesins
Cohesin protein complexes are a molecular glue that holds two sister chromatids together. They play an important role both in mitosis and meiosis. In mitosis, all cohesin complexes present on the chromosomes are removed before the start of the anaphase stage.
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of homologous...
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of homologous...
Anaphase Promoting Complex
The stepwise destruction of specific proteins is necessary for the progression and completion of the cell cycle. Such proteins are ubiquitinated by ubiquitin ligases and then subsequently destroyed by the proteasome. The SCF (Skp1/Cullin/F-box) and the anaphase-promoting complex (APC) are two important ubiquitin ligases involved in cell cycle progression. While SCF is active throughout the cell cycle, APC gets activated during metaphase to anaphase transition. Cdc20 or Cdh1 binds to APC and...
Anaphase Promoting Complex
The stepwise destruction of specific proteins is necessary for the progression and completion of the cell cycle. Such proteins are ubiquitinated by ubiquitin ligases and then subsequently destroyed by the proteasome. The SCF (Skp1/Cullin/F-box) and the anaphase-promoting complex (APC) are two important ubiquitin ligases involved in cell cycle progression. While SCF is active throughout the cell cycle, APC gets activated during metaphase to anaphase transition. Cdc20 or Cdh1 binds to APC and...
Condensins
Condensins are large protein complexes that use ATP to fuel the assembly of chromosomes during mitosis. They transform the tangled, shapeless mass of post-interphase DNA into individualized chromosomes by compacting, organizing, and segregating chromosomal DNA.
The plant and animal cells contain two types of condensin complexes—condensin I and condensin II. Both complexes have five subunits: two SMC (Structural Maintenance of Chromosomes) subunits, a kleisin subunit, and two HEAT-repeat...
The plant and animal cells contain two types of condensin complexes—condensin I and condensin II. Both complexes have five subunits: two SMC (Structural Maintenance of Chromosomes) subunits, a kleisin subunit, and two HEAT-repeat...
Condensins
Condensins are large protein complexes that use ATP to fuel the assembly of chromosomes during mitosis. They transform the tangled, shapeless mass of post-interphase DNA into individualized chromosomes by compacting, organizing, and segregating chromosomal DNA.
The plant and animal cells contain two types of condensin complexes—condensin I and condensin II. Both complexes have five subunits: two SMC (Structural Maintenance of Chromosomes) subunits, a kleisin subunit, and two HEAT-repeat...
The plant and animal cells contain two types of condensin complexes—condensin I and condensin II. Both complexes have five subunits: two SMC (Structural Maintenance of Chromosomes) subunits, a kleisin subunit, and two HEAT-repeat...

