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関連する概念動画

Genetic Variation01:25

Genetic Variation

273
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
273
Cell Specific Gene Expression01:58

Cell Specific Gene Expression

13.6K
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...
13.6K
General Transcription Factors01:30

General Transcription Factors

5.2K
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...
5.2K
What is Gene Expression?01:42

What is Gene Expression?

167.3K
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...
167.3K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.7K
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%...
17.7K
Chromatin Position Affects Gene Expression02:35

Chromatin Position Affects Gene Expression

23.3K
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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関連する実験動画

Updated: Jun 20, 2025

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

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世界的に多様なヒト群における遺伝子発現の多様性の源

Dylan J Taylor1, Surya B Chhetri2,3, Michael G Tassia1

  • 1Department of Biology, Johns Hopkins University, Baltimore, MD, USA.

Nature
|July 17, 2024
PubMed
まとめ

遺伝的多様性は人間の特徴に影響しますが 研究では多様性が欠けていることが多いのです この研究は包括的なRNAシーケンシングデータセットを導入し,遺伝子発現とスプライシングパターンは主に世界全体で共有されています.

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Single-cell Gene Expression Profiling Using FACS and qPCR with Internal Standards
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Single-cell Gene Expression Profiling Using FACS and qPCR with Internal Standards

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A Combinatorial Single-cell Approach to Characterize the Molecular and Immunophenotypic Heterogeneity of Human Stem and Progenitor Populations
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A Combinatorial Single-cell Approach to Characterize the Molecular and Immunophenotypic Heterogeneity of Human Stem and Progenitor Populations

Published on: October 25, 2018

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関連する実験動画

Last Updated: Jun 20, 2025

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

22.9K
Single-cell Gene Expression Profiling Using FACS and qPCR with Internal Standards
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Single-cell Gene Expression Profiling Using FACS and qPCR with Internal Standards

Published on: February 25, 2017

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A Combinatorial Single-cell Approach to Characterize the Molecular and Immunophenotypic Heterogeneity of Human Stem and Progenitor Populations
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科学分野:

  • ゲノミクス
  • 人口遺伝学
  • 分子生物学

背景:

  • 遺伝的多様性は現象的多様性を駆動する.
  • ヒトの遺伝学の研究は歴史的にヨーロッパ人の祖先に偏っており,一般化を制限している.
  • 進化論の研究には グローバルな遺伝的多様性を理解することが重要です

研究 の 目的:

  • 人間の遺伝学の研究における多様性の欠如を 解決するためです
  • 多様なグローバル人口からオープンアクセス可能なRNAシーケンシングデータセット (MAGE) を作成する.
  • 異なるヒト集団における遺伝子発現とスプライシングの多様性を調査する.

主な方法:

  • 5つの大陸のグループ (1000ゲノムプロジェクト) の731人のRNAシーケンシングデータセットを開発した.
  • 集団内および集団間の遺伝子発現とスプライシングの変動を分析した.
  • 遺伝子変異と近くの遺伝子発現 (cis-eQTLs) とスプライシング (cis-sQTLs) の間のマッピングされた関連性.

主要な成果:

  • ほとんどの遺伝子発現 (92%) とスプライシング (95%) の変異は集団内で発生し,DNA配列の変異を反映している.
  • 15,000以上のシス-eQTLと16,000個のシス-sQTLを特定し,表遺伝学的なサインに富んだ.
  • 集団特有の cis- eQTL と cis- sQTL が発見され,集団全体にわたって非常に一貫した効果の大きさと方向性がある.

結論:

  • 遺伝子発現とスプライシングのバリエーションは 人種間で広く共有されている.
  • 以前の"集団特異的な"影響の発見は,しばしば技術的な制限によるものでした.
  • MAGEデータセットは,ヒトゲノムの進化と機能を研究するための包括的なリソースを提供します.