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Updated: Jul 29, 2026

11:48
Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
Published on: October 9, 2014
Swayingは,原発がん遺伝子Wnt-1の変異アレルである
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
まとめ
アタキシアを引き起こす揺れる (sw) マウス変異は,Wnt-1遺伝子の削除の結果である. この遺伝的欠陥は小脳前部の発達に影響し,中脳と小脳後部の構造にも影響を及ぼします.
科学分野:
- 神経科学は神経科学である.
- 遺伝学 遺伝学とは
- 発達生物学 発達生物学とは
背景:
- 揺れる (sw) マウス変異は小脳異常と関連しており,アタキシアと高血圧症につながる.
- 揺れる変異の正確な遺伝的原因は,以前は未定でした.
研究 の 目的:
- ネズミの揺れ (sw) 変異の遺伝的根拠を特定する.
- この変異の分子および発達の影響を特徴づけること.
主な方法:
- Wnt-1原発がん遺伝子の変異を特定するための遺伝子配列解析.
- 影響を受けたマウスの脳領域の組織学的検査.
- 以前に特徴づけられたWnt-1変異との比較.
主要な成果:
- 揺れる (sw) 変異は,Wnt-1遺伝子における単一の塩基対の削除である.
- この削除は,早すぎる翻訳終結につながり,Wnt-1タンパク質を切り離します.
- フェノタイプ分析により,sw変異は標的型Wnt-1変異と区別できないことが明らかになった.
結論:
- Wnt-1遺伝子は小脳前部の適切な発達に不可欠です.
- Wnt-1変異は表情性が変化し,隣接する中脳と小脳後部の構造に影響を与える可能性があります.
- 揺れる変異は,小脳発達におけるWnt-1の機能を研究するための貴重なモデルを提供します.
関連する概念動画
RNA Splicing
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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...
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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...
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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...

