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関連する概念動画

Translation01:31

Translation

14.6K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
14.6K
Mutations01:39

Mutations

80.9K
Overview
80.9K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.6K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.6K
Alternative RNA Splicing02:18

Alternative RNA Splicing

21.0K
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...
21.0K
Genome Copying Errors02:46

Genome Copying Errors

4.2K
DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
4.2K
Mismatch Repair01:20

Mismatch Repair

4.8K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
4.8K

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関連する実験動画

Updated: Jun 11, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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ヒトの疾患の基礎となる病原性コーディング変種の広範囲にわたる誤局

Jessica Lacoste1, Marzieh Haghighi2, Shahan Haider1

  • 1Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.

Cell
|October 1, 2024
PubMed
まとめ
この要約は機械生成です。

新しい高通量イメージングプラットフォームは,タンパク質の誤局が疾患を引き起こす遺伝子変異の一般的な結果であり,疾患の重症度に影響を与え,不確実な意味を持つ変異の洞察を提供します.

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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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In Vivo Modeling of the Morbid Human Genome using Danio rerio

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

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関連する実験動画

Last Updated: Jun 11, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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In Vivo Modeling of the Morbid Human Genome using Danio rerio

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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科学分野:

  • ゲノミクス
  • 分子生物学
  • 生物化学

背景:

  • 何千もの病気を 引き起こすミッセンスの変種が 広範囲にわたる配列化によって 特定されています
  • 各変異体の機能的影響の評価は 遺伝子研究における大きな瓶頸です

研究 の 目的:

  • タンパク質の局所化に対するコード化変化の影響を測定するための高通量画像プラットフォームを確立する.
  • 数多くの遺伝子と表型にわたる多数のミッセンスの変異を評価する.

主な方法:

  • 高通量イメージングプラットフォームの開発
  • 1,000以上の遺伝子から 3,448のミッセンスの変異を検出した.
  • タンパク質の局所化パターンの分析

主要な成果:

  • 誤った局所化は,約6分の1の病原性の誤った意味の変異に影響を与える,コード化変異の一般的な結果である.
  • 誤った局所化は全ての細胞部位に 影響を及ぼし,後退性および支配的な疾患の両方に 影響を及ぼします
  • タンパク質の誤局化は主にタンパク質の安定性や膜挿入によって引き起こされる.

結論:

  • タンパク質の誤局化は,病原性ミセンス変異の頻繁な結果です.
  • ミスロカライゼーションパターンは,プレイオトロピー,疾患の重症度,および不確実な重要性に関する洞察を提供します.
  • 開発されたプラットフォームとデータは,ヒトの病気のコード化変異を理解するための貴重なリソースを提供します.