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関連する概念動画

piRNA - Piwi-interacting RNAs02:57

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PIWI-interacting RNAs, or piRNAs, are the most abundant short non-coding RNAs. More than 20,000 genes have been found in humans that code for piRNAs while only 2000 genes have been found for miRNAs. piRNAs can act at the transcriptional and post-transcriptional levels and have a vital role in silencing transposable elements present in germ cells. They are also involved in epigenetic silencing and activation. Previously, they were thought to function only in germ cells but new evidence suggests...
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Meiosis is the division of a diploid cell into haploid cells forming sperm and eggs in animals through differentiation. Meiosis I is the first stage of meiosis, where the genetic recombination of homologous chromosomes and the reduction of the ploidy level by half occurs.
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Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
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Protein domains are small structurally independent units that are part of a single amino acid chain.  Although these domains are often structurally independent, they may rely on synergistic effects to perform their functions as part of a larger protein. Protein domains may be conserved within the same organism, as well as across different organisms.
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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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このページは機械翻訳されています。他のページは英語で表示される場合があります。View in English
  1. ホーム
  3. 研究分野
  5. 生物学的科学
  7. 遺伝学
  9. 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)
  11. ヒトピウイにおけるウビキチネーション欠陥変異は,精子形成中にヒストンとプロタミンの交換を損なうことで男性不妊症を引き起こす.

ヒトピウイにおけるウビキチネーション欠陥変異は,精子形成中にヒストンとプロタミンの交換を損なうことで男性不妊症を引き起こす.

Lan-Tao Gou1, Jun-Yan Kang2, Peng Dai2

  • 1State Key Laboratory of Molecular Biology, Shanghai Key Laboratory of Molecular Andrology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of Sciences, Shanghai 200031, China; Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093-0651, USA.

Cell
|May 30, 2017

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In Vitro Ubiquitination and Deubiquitination Assays of Nucleosomal Histones
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PubMed で要約を見る

まとめ
この要約は機械生成です。

ヒトのPiwi (Hiwi) の遺伝子変異は,タンパク質の分解を防ぐことでアゾオスペミアを引き起こす. この研究は,ピウイ

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In Vitro Ubiquitination and Deubiquitination Assays of Nucleosomal Histones

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科学分野:

  • 生殖生物学
  • 遺伝学
  • 分子生物学

背景:

  • ピウイのタンパク質は 動物の生殖系統の発達に不可欠です
  • ヒトの不妊症における疾患遺伝子としてのPiwiタンパク質の役割は十分に理解されていません.
  • アゾオスペルミアは,精液に精子がないことが特徴である.

研究 の 目的:

  • ヒトの不妊症における Piwi 変異の役割を調査する
  • ピウイ変異が不妊症につながる分子メカニズムを解明する.

主な方法:

  • アゾオスペルミアの患者におけるヒトPiwi (Hiwi) の生殖系統変異を特定した.
  • これらの変異の機能的影響を研究するために,ピウィ (Miwi) ノックインマウスのモデルを作成しました.
  • MIWIとヒストンユビキチンリガゼRNF8の相互作用を調査した.
  • 感染したマウスの精子形態,ヒストンの保持,そして運動性を評価した.
  • 救出実験でペプチドを用いてRNF8-MIWIの相互作用を阻害する効果を試験した.

主要な成果:

  • アゾオスペルミアの患者では,Hiwiの細菌系変異が発見され,タンパク質のユビキチン化と分解が低下しました.
  • ミウイ・ノックイン・マウスは同様の変異で 男性の不妊症を示した.
  • MIWIは,piRNAと独立してRNF8を結合し,その安定化は,後期精子の細胞質にRNF8を結合する.
  • 影響を受けたマウスの異常な精子はヒストンの保持,異常な形状,運動能力の低下を示した.
  • RNF8-NペプチドとRNF8-MIWIの相互作用を阻害することで,精子の機能が回復した.

結論:

  • ピウィ (Hiwi) は,ヒトの不妊症に寄与する新しい疾患遺伝子として特定されています.
  • ピウイタンパク質の安定化は,RNF8を隔離することによって,精子形成中にヒストンとプロタミンの交換を妨げます.
  • RNF8- MIWIの相互作用をターゲットにすることは,Piwi変異によって引き起こされる不妊症に対する潜在的な治療戦略です.