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Genomic DNA in Eukaryotes00:58

Genomic DNA in Eukaryotes

Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.
DNA as a Genetic Template02:05

DNA as a Genetic Template

Two structural features of the DNA molecule provide a basis for the mechanisms of heredity: the four nucleotide bases and its double-stranded nature. The Watson-Crick model of double-helical DNA structure, proposed in 1952, drew heavily upon the X-ray crystallography work of researchers Rosalind Franklin and Maurice Wilkins. Watson, Crick, and Wilkins jointly received the Nobel Prize in Physiology or Medicine for their work in 1962. Franklin was, controversially, excluded from the prize for...
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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%...
DNA as a Genetic Template02:05

DNA as a Genetic Template

Two structural features of the DNA molecule provide a basis for the mechanisms of heredity: the four nucleotide bases and its double-stranded nature. The Watson-Crick model of double-helical DNA structure, proposed in 1952, drew heavily upon the X-ray crystallography work of researchers Rosalind Franklin and Maurice Wilkins. Watson, Crick, and Wilkins jointly received the Nobel Prize in Physiology or Medicine for their work in 1962. Franklin was, controversially, excluded from the prize for...
Genetic Variation01:25

Genetic Variation

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, which...

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Updated: May 7, 2026

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

塩基解像度におけるヒトDNAメチロームは,広範囲にわたる表遺伝子学的差異を示しています.

Ryan Lister1, Mattia Pelizzola, Robert H Dowen

  • 1Genomic Analysis Laboratory, The Salk Institute for Biological Studies, La Jolla, California 92037, USA.

Nature
|October 16, 2009
PubMed
まとめ

この研究では,ヒト細胞の全ゲノムにわたるDNAメチレーションをマッピングし,胚性幹細胞と線維芽細胞の異なるパターンを明らかにしました. これらの発見は,発達と病気の間に表遺伝的調節に関する新しい洞察を提供します.

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Characterizing Mutational Load and Clonal Composition of Human Blood
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Characterizing Mutational Load and Clonal Composition of Human Blood

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Application of DNA Fingerprinting using the D1S80 Locus in Lab Classes
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Application of DNA Fingerprinting using the D1S80 Locus in Lab Classes

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関連する実験動画

Last Updated: May 7, 2026

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

Characterizing Mutational Load and Clonal Composition of Human Blood
07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

Application of DNA Fingerprinting using the D1S80 Locus in Lab Classes
08:35

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科学分野:

  • エピジェネティクス エピジェネティクス
  • ゲノミクスゲノミクスとは
  • 発達生物学 発達生物学とは

背景:

  • DNAのサイトシンメチレーションは,遺伝子発現,発育,疾患を調節する重要なエピジェネティックマークです.
  • メチル化パターンの理解は,細胞のプロセスを解読する鍵です.

研究 の 目的:

  • ヒトの胚性幹細胞と胎児の線維芽細胞におけるDNAメチル化に関する最初の全ゲノム,単塩基解像度マップを作成する.
  • これらのメチル化マップをトランスクリプトームとエピジェノミックデータと比較する.
  • 胚性幹細胞における非CGメチル化の役割を調査する.

主な方法:

  • 単塩基解像度DNAメチレーションマッピングのための全ゲノムバイスルファイト配列解析.
  • DNAメチル化,mRNA,小RNA,ヒストンの改変,DNAとタンパク質の相互作用の比較分析.
  • 誘導分化および再プログラミング中のメチル化変化の分析.

主要な成果:

  • 胚性幹細胞と線維芽細胞の間のDNAメチル化組成とパターンの有意な違いを特定しました.
  • 胚性幹細胞におけるメチル化の約25%が,遺伝子ボディで濃縮された非CGの文脈にあることを発見した.
  • 非CGメチル化がダイナミックで,分化時に消滅し,誘発された多能幹細胞で回復することを観察した.
  • プラリポテンシーと分化遺伝子の近くで,数百の微分メチル化領域を発見した.

結論:

  • 人間の胚性幹細胞は,多能性の調節に潜在的に関与するユニークな非CGメチル化パターンを表しています.
  • 線維芽細胞は,転写活動の低下に関連した広範囲にわたる低メチル化を示します.
  • これらの参照エピゲノムは,ヒトの発達と疾患におけるDNAメチル化の研究の基礎となる.