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Cell Specific Gene Expression01:58

Cell Specific Gene Expression

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Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
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Cell Specific Gene Expression01:58

Cell Specific Gene Expression

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Chromatin Position Affects Gene Expression02:35

Chromatin Position Affects Gene Expression

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Chromatin is the massive complex of DNA and proteins packaged inside the nucleus. The complexity of chromatin folding and how it is packaged inside the nucleus greatly influences  access to genetic information. Generally, the nucleus' periphery is considered transcriptionally repressive, while the cell's interior is considered a transcriptionally active area. 
Topologically Associated Domains (TADs)
The 3-dimensional positioning of chromatin in the nucleus influences the...
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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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What is Gene Expression?01:42

What is Gene Expression?

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Overview
Gene expression is the process in which DNA directs the synthesis of functional products, that is, proteins. Cells can regulate gene expression at various stages. It allows organisms to generate different cell types and enables cells to adapt to internal and external factors.
Genetic Information Flows from DNA to RNA to Protein
A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is made up of nucleotides and proteins consist of amino...
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What is Gene Expression?01:36

What is Gene Expression?

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A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is comprised  of nucleotides and proteins are comprised of amino acids, a mediator is required to convert the information encoded in DNA into proteins. This mediator is the messenger RNA (mRNA). mRNA copies the blueprint from DNA by a process called transcription. In eukaryotes, transcription occurs in the nucleus by complementary base-pairing with the DNA template. The mRNA is then...
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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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ヒト組織における遺伝子発現に対する遺伝的影響

, ,

  • 1Department of Computer Science, Johns Hopkins University, Baltimore, Maryland 21218, USA.

Nature
|October 13, 2017
PubMed
まとめ

遺伝子型-組織表現 (GTEx) プロジェクトは,44のヒト組織における遺伝子変異がどのように遺伝子表現に影響を与えるかを明らかにしています. この研究は遺伝子調節メカニズムをマッピングすることで 遺伝的特徴や病気の理解を深めるものです

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科学分野:

  • ゲノミクス
  • 人間 の 遺伝子
  • 分子生物学

背景:

  • 人間の遺伝的多様性を理解することは 特徴や病気の背後にある 細胞メカニズムを特定する鍵です
  • 遺伝子型-組織表現 (GTEx) プロジェクトは,ヒトの組織と個体における遺伝子表現の多様性をマッピングすることを目的としています.

研究 の 目的:

  • 44種類のヒト組織における遺伝子発現に対する遺伝効果を特徴づける.
  • 遺伝子調節に影響を与える局所的および染色体間遺伝効果を特定する.

主な方法:

  • 44人のヒト組織から得られた遺伝子発現データを分析した
  • 遺伝子発現レベルに影響を与える遺伝的変異の特定
  • 遺伝効果の組織特異性と機能特性の特徴づけ

主要な成果:

  • 地元の遺伝的変異は,研究されたほとんどの遺伝子の遺伝子発現に影響を与えます.
  • 染色体間遺伝的影響は93の遺伝子と112の場所で確認された.
  • 遺伝効果の組織特異性および機能特性のパターンが特徴付けられました.

結論:

  • GTExからの多組織,多個体データは,疾患に関連する変異によって影響を受ける遺伝子と経路の識別を可能にします.
  • このアプローチは,遺伝子調節とヒトの病気の遺伝的基礎に関する機械的洞察を提供します.