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関連する概念動画

Dosage Compensation02:50

Dosage Compensation

6.3K
In animals, gender is determined by the number and type of sex chromosome. For example, human females have two X chromosomes, and males have one X and one Y chromosome, whereas C.elegans with one X chromosome is a male, and the one with two X chromosomes is a hermaphrodite.
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with  distinct numbers of X chromosomes will...
6.3K
Translesion DNA Polymerases02:10

Translesion DNA Polymerases

10.1K
Translesion (TLS) polymerases rescue stalled DNA polymerases at sites of damaged bases by replacing the replicative polymerase and installing a nucleotide across the damaged site. Doing so, TLS allows additional time for the cell to repair the damage before resuming regular DNA replication.
TLS polymerases are found in all three domains of life - archaea, bacteria, and eukaryotes. Of the different classes of TLS polymerases, members of the Y family are fitted with specialized structures that...
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Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

6.1K
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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X-Inactivation01:58

X-Inactivation

39.2K
The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
39.2K
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

5.1K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
5.1K
Genome Copying Errors02:46

Genome Copying Errors

4.4K
DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
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Updated: Sep 9, 2025

Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization
17:14

Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization

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オートソーム性アレルインアクティベーション: 変数複製と投与感度

Michael B Heskett, Athanasios E Vouzas, Brian Johnstone

    bioRxiv : the preprint server for biology
    |September 2, 2025
    PubMed
    まとめ
    この要約は機械生成です。

    無活性化/安定性センター (I/SCs) と呼ばれる新しい自己体位は,安定した,アレル特異の遺伝子発現と複製タイミングを示し,ヒトの病気に影響を与える細胞のモザイクを作り出します.

    さらに関連する動画

    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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    Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
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    関連する実験動画

    Last Updated: Sep 9, 2025

    Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization
    17:14

    Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization

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    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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    Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
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    科学分野:

    • 遺伝学
    • エピジェネティクス
    • ゲノムに関する規制

    背景:

    • オートソーム遺伝子は,インプリントされた遺伝子やアレル排除によって調節される遺伝子に類似したモノアレル発現と非同期的な複製を示す.
    • 不活性化/安定性センター (I/SC) は,アレル発現と複製タイミングの表遺伝的調節を持つ自体位です.
    • これらの表遺伝的差異は 活性X染色体と非活性X染色体との差異と同じくらい 重要なものです

    研究 の 目的:

    • 複製のタイミングと遺伝子発現のアレル特異的な表遺伝的調節を示す数百の自体位を特徴づける.
    • これらのロシを不活性化/安定センター (I/SC) と定義する.
    • I/SCの特徴と影響を調査する.

    主な方法:

    • 何百ものオートソームの特徴
    • 複製のタイミングと遺伝子発現のアレル特異的表遺伝子調節の分析.
    • マウスゲノムによる比較分析で,保存された合成を特定する.

    主要な成果:

    • タンパク質をコードする遺伝子と非コードする遺伝子を含んだ約1メガベースの数百のI/SCを特定し,定義した.
    • 起源の親または他のアレルから独立して,ストキャスティックな,しかしミトティックに安定したアレル固有の遺伝子発現パターンを観察した.
    • 他のアレルとは独立した,アレル特異の複製タイミングの変異と,マウスゲノムで保存されたI/SCを発見した.

    結論:

    • I/SCはアレル限定の調節を示し,安定した表遺伝的メカニズムを通じて広範な細胞モザイクにつながります.
    • パーキンソン病,,失聴,知的障害などの病気に 関与する 多数の用量感受性遺伝子に影響します