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関連する概念動画

General Transcription Factors01:30

General Transcription Factors

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Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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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%...
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Ribosome Profiling02:24

Ribosome Profiling

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Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique...
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Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

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Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
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Alternative RNA Splicing02:18

Alternative RNA Splicing

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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...
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Transcription Factors02:16

Transcription Factors

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Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
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Updated: Dec 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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ヒトの組織を横断するトランスクリプトミカルシグネチャーは,機能的な稀な遺伝的変異を識別する.

Nicole M Ferraro1, Benjamin J Strober2, Jonah Einson3,4

  • 1Biomedical Informatics Training Program, Stanford University, Stanford, CA, USA.

Science (New York, N.Y.)
|September 11, 2020
PubMed
まとめ

科学者たちは,遺伝子の発現を分析することによって,希少な遺伝子変異 (RV) の機能を特定するための新しいモデルであるウォーターシェードを開発しました. このアプローチは 何千ものRVを 分子効果と人間の特徴と 結びつけています

さらに関連する動画

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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科学分野:

  • ゲノミクス
  • トランスクリプトミクス
  • 人間 の 遺伝子

背景:

  • 稀な遺伝子変異 (RV) は広範囲に存在しますが,機能的に特徴づけるのは困難です.
  • 遺伝子発現分析により,いくつかの機能的なRVが特定されましたが,包括的なアプローチが必要です.

研究 の 目的:

  • 遺伝子に起因するトランスクリプトームの異常を 検出する範囲を拡大する
  • 変数関数を予測するための複数の信号を統合するモデルを開発する.
  • RVsが分子効果と人間の特徴に与える影響を評価する.

主な方法:

  • 多組織RNA配列データから遺伝子発現,アレル特異発現,代替スプライシングを分析した.
  • ゲノムとトランスクリプトミックの信号を統合した確率モデルであるウォーターシェードを開発した.
  • 大規模なバイオバンクにおける追加のコホートと実験的測定を用いた検証された予測.

主要な成果:

  • 独特のトランスクリプトミックの信号によって 特定された独特のRVのクラス
  • 何千ものRVを 多様な分子効果と結びつけることで 変異機能の予測に成功しました
  • トランスクリプトームに影響を与えるRVと人間の特徴との関連が示された.

結論:

  • 統合されたゲノムとトランスクリプトミックの分析は,希少変異体の機能を理解するための強力な枠組みを提供します.
  • ウォーターシェードモデルは,遺伝的に誘発された分子および現象的変化の識別を強化します.
  • この研究は,多くの稀な変異を生物学的効果と人間の健康と関連付けています.