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Gene Conversion02:08

Gene Conversion

9.9K
Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
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Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

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Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
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Exon Recombination02:32

Exon Recombination

3.7K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
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Crossing Over01:30

Crossing Over

4.7K
Crossing over is the exchange of genetic information between homologous chromosomes during prophase I of meiosis I. Genetic recombination gives rise to allelic diversity in the newly formed daughter cells. In humans, crossing over produces genetically distinct haploid egg and sperm cells that undergo fertilization to produce unique offspring. Before cell division starts, the germ cell’s chromosome(s) undergo duplication in the S phase of the cell cycle. As the cells enter prophase I,...
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Viral Recombination00:57

Viral Recombination

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Cells are sometimes infected by more than one virus at once. When two viruses disassemble to expose their genomes for replication in the same cell, similar regions of their genomes can pair together and exchange sequences in a process called recombination. Alternatively, viruses with segmented genomes can swap segments in a process called reassortment.
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Homologous Recombination02:31

Homologous Recombination

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The basic reaction of homologous recombination (HR) involves two chromatids that contain DNA sequences sharing a significant stretch of identity. One of these sequences uses a strand from another as a template to synthesize DNA in an enzyme-catalyzed reaction. The final product is a novel amalgamation of the two substrates. To ensure an accurate recombination of sequences, HR is restricted to the S and G2 phases of the cell cycle. At these stages, the DNA has been replicated already and the...
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関連する実験動画

Updated: Sep 3, 2025

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion
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Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion

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繰り返される要素の再結合は,ヒトゲノムの体質的複雑性を生み出します.

Giovanni Pascarella1, Chung Chau Hon1, Kosuke Hashimoto2

  • 1RIKEN Center for Integrative Medical Sciences (IMS), Yokohama 230-0045, Japan.

Cell
|July 26, 2022
PubMed
まとめ

AluやL1のような重複性DNA要素の体内再結合はヒトゲノムで一般的であり,組織や細胞タイプによって異なります. このプロセスは神経変性疾患における ゲノム不安定に関連しています

キーワード:
アルーL1 についてNAHR について非アレルの同型再結合再組み合わせ繰り返す要素ソマティック・モザイキズム構造的な変形

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Subcloning Plus Insertion SPI - A Novel Recombineering Method for the Rapid Construction of Gene Targeting Vectors
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Recombineering Homologous Recombination Constructs in Drosophila
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Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion
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Subcloning Plus Insertion SPI - A Novel Recombineering Method for the Rapid Construction of Gene Targeting Vectors
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Recombineering Homologous Recombination Constructs in Drosophila
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科学分野:

  • ゲノミクスと分子生物学
  • 人間 の 遺伝子
  • 神経科学

背景:

  • 繰り返し発生する要素の非アレル同種再結合は,進化と遺伝的疾患の原動力として知られています.
  • これらの要素の体内再結合の範囲と影響は,健康なヒトゲノムと病気のヒトゲノムでは完全に理解されていません.

研究 の 目的:

  • 人間のゲノムにおけるAluとL1要素の体内再結合の流行と特徴を調査する.
  • 健康と病気,特に神経変性におけるレトロエレメント媒介による再結合の組織特有のパターンと潜在的な役割を調査する.

主な方法:

  • 繰り返しの要素の 短いDNAと長いDNAの 配列読み取りを組み合わせた
  • 再結合イベントを分析するための新しいバイオ情報パイプラインの開発と応用.
  • ヒト誘発の多能幹細胞と分化ニューロン,および神経変性疾患状態における再結合プロフィールの比較分析.

主要な成果:

  • AluとL1要素の体内再結合はヒトゲノム全体に広く見られる.
  • 独特の組織特異な再結合パターンが特定され,センターメアと癌に関連した遺伝子のレトロエレメントが濃縮された.
  • 細胞分化中のクロマチンの変化と相関する神経特異的再結合と,パーキンソン病とアルツハイマー病で変化したプロファイルが観察されました.

結論:

  • 繰り返し発生する要素の体内再結合はヒトのゲノム多様性に大きく貢献する.
  • レトロエレメント再結合は,神経変性疾患におけるゲノム不安定性のマーカーとして機能する.
  • この研究は,正常なヒト生物学と病気の病原性における体内再結合の役割に関する新しい洞察を提供します.