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Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

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As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
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Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
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lncRNA - Long Non-coding RNAs02:39

lncRNA - Long Non-coding RNAs

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In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
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LTR Retrotransposons03:08

LTR Retrotransposons

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LTR retrotransposons are class I transposable elements with long terminal repeats flanking an internal coding region. These elements are less abundant in mammals compared to other class I transposable elements. About 8 percent of human genomic DNA comprises LTR retrotransposons. Some of the common examples of LTR retrotransposons are Ty elements in yeast and Copia elements in Drosophila.
The internal coding region of LTR retrotransposons and their mechanism of transposition closely resembles a...
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Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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Mutations01:39

Mutations

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  2. 慢性リンパ球白血病における非コーディング再発性変異
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  2. 慢性リンパ球白血病における非コーディング再発性変異

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Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
09:02

Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation

Published on: November 26, 2018

22.8K

慢性リンパ球白血病における非コーディング再発性変異

Xose S Puente1, Silvia Beà2, Rafael Valdés-Mas1

  • 1Departamento de Bioquímica y Biología Molecular, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, 33006 Oviedo, Spain.

Nature
|July 23, 2015

PubMed で要約を見る

まとめ
この要約は機械生成です。

この研究は,NOTCH1とPAX5に影響を与える非コーディング変異を含む,慢性リンパ球性白血病 (CLL) の新しい遺伝的要因を明らかにした. これらの発見は病気の行動を説明し,将来のCLL治療の指針となるかもしれません.

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Comprehensive DNA Methylation Analysis Using a Methyl-CpG-binding Domain Capture-based Method in Chronic Lymphocytic Leukemia Patients
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Comprehensive DNA Methylation Analysis Using a Methyl-CpG-binding Domain Capture-based Method in Chronic Lymphocytic Leukemia Patients

Published on: June 16, 2017

10.7K
A Chromatin Immunoprecipitation Assay to Identify Novel NFAT2 Target Genes in Chronic Lymphocytic Leukemia
09:52

A Chromatin Immunoprecipitation Assay to Identify Novel NFAT2 Target Genes in Chronic Lymphocytic Leukemia

Published on: December 4, 2018

8.2K

関連する実験動画

Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
09:02

Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation

Published on: November 26, 2018

22.8K
Comprehensive DNA Methylation Analysis Using a Methyl-CpG-binding Domain Capture-based Method in Chronic Lymphocytic Leukemia Patients
13:21

Comprehensive DNA Methylation Analysis Using a Methyl-CpG-binding Domain Capture-based Method in Chronic Lymphocytic Leukemia Patients

Published on: June 16, 2017

10.7K
A Chromatin Immunoprecipitation Assay to Identify Novel NFAT2 Target Genes in Chronic Lymphocytic Leukemia
09:52

A Chromatin Immunoprecipitation Assay to Identify Novel NFAT2 Target Genes in Chronic Lymphocytic Leukemia

Published on: December 4, 2018

8.2K

科学分野:

  • ゲノミクス
  • 腫瘍学
  • 分子生物学

背景:

  • 慢性リンパ球性白血病 (CLL) は一般的な血液学的悪性腫瘍である.
  • CLLの多様な臨床行動の遺伝的基盤は完全に解明されていません.

研究 の 目的:

  • CLLとその前駆体であるモノクローナルBリンパ球症のゲノム構造を総合的に分析する.
  • 新しい原動力変異を特定し,病気の進行と臨床結果への影響を理解する.

主な方法:

  • 全ゲノム配列化とCLL症例452例と単一クローンBリンパ球症のサンプル54例の分析
  • コーディング領域と非コーディング領域における再発性変異の識別と機能的特徴付け.

主要な成果:

  • ZNF292,ZMYM3,ARID1A,PTPN11の変異を含む,CLLの原動力変異のレパートリーを拡張しました.
  • NOTCH1 3'領域で新しい非コーディング変異が発見され,異常なスプライシングとNOTCH1の活性が増加し,攻撃的な疾患と相関しています.
  • 重要なB細胞転写因子であるPAX5の発現を減少させる9p13増強剤の変異を特定した.
  • ドライバーの変化の累積的な数は 患者の臨床行動を効果的に区別することを示した.

結論:

  • CLLの統合されたゲノムポートレートを提供し,新しい再発性ドライバー変異を明らかにします.
  • CLLの病原性における非コーディング変異の重要性を強調する.
  • CLLの管理のための潜在的な治療目標と改善された患者分層化戦略を提案しています.