相关实验视频
Updated: Jul 29, 2026

11:48
Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
Published on: October 9, 2014
摇摆是原型瘤基因Wnt-1的一个突变等位基因
K R Thomas1, T S Musci, P E Neumann
1Howard Hughes Medical Institute, Eccles Institute of Human Genetics, University of Utah, Salt Lake City 84112.
Cell
|November 29, 1991
概括
摇摆 (sw) 鼠标突变,导致动力衰竭,是由于Wnt-1基因被删除而产生的. 这种遗传缺陷影响前小脑发育,影响中脑和后小脑结构.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 发育生物学 发展生物学
背景情况:
- 摇摆 (sw) 鼠标突变与小脑形有关,导致动力不良和高血压.
- 这种摇摆突变的确切遗传原因以前尚未确定.
研究的目的:
- 为了确定小鼠摇摆 (sw) 突变的遗传基础.
- 描述这种突变的分子和发育后果.
主要方法:
- 基因测序以确定Wnt-1原型瘤基因中的突变.
- 组织学检查受影响的小鼠大脑区域.
- 与之前描述的Wnt-1突变进行比较.
主要成果:
- 摇摆 (sw) 突变是Wnt-1基因中单个基对的删除.
- 这种删除导致过早的翻译终止,切断了Wnt-1蛋白.
- 现型分析显示,sw突变与目标Wnt-1突变是不可区分的.
结论:
- Wnt-1基因对于小脑前部的正常发育至关重要.
- Wnt-1突变会导致表达能力变化,影响相邻的中脑和小脑后部结构.
- 这种摇摆突变为研究小脑发育中的Wnt-1功能提供了有价值的模型.
相关概念视频
RNA Splicing
Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
Alternative RNA Splicing
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Canonical Wnt Signaling Pathway
The gene encoding the main signaling molecules of the Wnt signaling pathways (the Wnt proteins) was discovered almost four decades ago by Nüsslein-Volhard and Wieschaus. They identified and originally named the gene "wingless" (wg) after a phenotype discovered during their landmark genetic screen in Drosophila for body pattern defects. At around the same time, another researcher named Harold Varmus found that a murine tumor virus activates the mammalian wg homolog, Int-1, which results in tumor...
Loss of Tumor Suppressor Gene Functions
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
Non-Canonical Wnt Signaling Pathways
Wnt is a zygotic effect gene that is expressed during very early embryonic development. It regulates various processes in animals starting from early development through the adult stage, such as organogenesis in the embryo and maintenance of neuronal and blood stem cells. Wnt proteins can induce a wide variety of intracellular pathways depending upon the specific abilities of different Wnt ligands to form a complex with shared and cognate receptors in the presence of different co-receptors. The...
Canonical Wnt Signaling Pathway
The gene encoding the main signaling molecules of the Wnt signaling pathways (the Wnt proteins) was discovered almost four decades ago by Nüsslein-Volhard and Wieschaus. They identified and originally named the gene "wingless" (wg) after a phenotype discovered during their landmark genetic screen in Drosophila for body pattern defects. At around the same time, another researcher named Harold Varmus found that a murine tumor virus activates the mammalian wg homolog, Int-1, which results in tumor...

