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  1. ホーム
  2. 研究分野
  3. 生物学的科学
  4. 遺伝学
  5. エピジェネティクス (ゲノムメチレーションとエピジェノミクスを含む)
  6. ヒトにおけるモジュラー染色体構造の集団変化と遺伝的制御
  1. ホーム
  2. 研究分野
  3. 生物学的科学
  4. 遺伝学
  5. エピジェネティクス (ゲノムメチレーションとエピジェノミクスを含む)
  6. ヒトにおけるモジュラー染色体構造の集団変化と遺伝的制御

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ヒトにおけるモジュラー染色体構造の集団変化と遺伝的制御

Sebastian M Waszak1, Olivier Delaneau2, Andreas R Gschwind3

  • 1Institute of Bioengineering, School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne 1015, Switzerland; Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland.

Cell
|August 25, 2015

PubMed で要約を見る

まとめ
この要約は機械生成です。

遺伝的変異はクロマチンの構造と遺伝子調節に影響する. この研究では,遺伝子発現に影響を及ぼす個体間で調整されたクロマチンの変異を誘導するクロマチンの定量特征局 (cQTL) を特定しています.

科学分野:

  • ゲノミクス
  • エピジェネティクス
  • 遺伝子規制

背景:

  • 遺伝子調節要素におけるクロマチンの状態の変化は,個体間で一般的です.
  • この多様性の遺伝的基盤は十分に理解されていません.

研究 の 目的:

  • クロマチン状態の変化の遺伝的根拠を調査する.
  • 調整されたクロマチンの変化を誘発する分子機構を特定する.

主な方法:

  • ヒストンの改変,転写因子 (PU.1),RNAポリメラーゼII,遺伝子発現をプロファイリングする.
  • 47の全ゲノム配列の リンパ芽細胞のデータを分析した
  • クロマチンの定量特征ロシ (cQTL) をマッピングする.

主要な成果:

  • 異なるシス調節要素は,変数クロマチンモジュール (VCM) で調整されたクロマチンの変化を示します.
  • VCMは数千の遺伝子と関連付けられ,染色体接触領域内に集まります.
  • プロキシマルおよびディスタルcQTLは,TF結合領域にマッピングすることで,観察されたクロマチンの変化の多くを説明します.

結論:

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Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying...
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In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
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The extent of chromatin compaction can be studied by staining chromatin using specific DNA binding dyes. Under the microscope, the dense-compacted regions that take up more dye are called heterochromatin. Heterochromatin is further classified into two forms – constitutive heterochromatin and facultative heterochromatin.
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The histone proteins in the nucleosomes are post-translationally modified (PTM) to increase or decrease access to DNA. The commonly observed PTMs are methylation, acetylation, phosphorylation, and ubiquitination of lysine amino acids in the histone H3 tail region. These histone modifications have specific meaning for the cell. Hence, they are called "histone code". The protein complex involved in histone modification is termed as "reader-writer" complex.
Writers
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  • 遺伝的変異は,ゲノム領域内のシス調節要素間の協力的相互作用を混乱させる.
  • これは局所的な,配列独立の染色体変異につながり,遺伝子調節に影響を与えます.