Jove
Visualize
お問い合わせ
JoVE
x logofacebook logolinkedin logoyoutube logo
JoVEについて
概要リーダーシップブログJoVEヘルプセンター
著者向け
出版プロセス編集委員会範囲と方針査読よくある質問投稿
図書館員向け
推薦の声購読アクセスリソース図書館諮問委員会よくある質問
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experimentsアーカイブ
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教員リソースセンター教員サイト
利用規約
プライバシーポリシー
ポリシー

関連する概念動画

Mismatch Repair01:20

Mismatch Repair

4.8K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
4.8K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

33.2K
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.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
33.2K
Nucleotide Excision Repair01:38

Nucleotide Excision Repair

3.4K
DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
3.4K
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

11.5K
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...
11.5K
DNA Damage can Stall the Cell Cycle02:37

DNA Damage can Stall the Cell Cycle

9.0K
In response to DNA damage, cells can pause the cell cycle to assess and repair the breaks. However, the cell must check the DNA at certain critical stages during the cell cycle. If the cell cycle pauses before DNA replication, the cells will contain twice the amount of DNA. On the other hand, if cells arrest after DNA replication but before mitosis, they will contain four times the normal amount of DNA. With a host of specialized proteins at their disposal,cells must use the right protein at...
9.0K
Genome Copying Errors02:46

Genome Copying Errors

4.1K
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.
4.1K

こちらも読む

関連記事

共著者、ジャーナル、引用グラフによってこの研究に関連する記事。

並び替え
Same author

Practical guide to implementing pre-emptive pharmacogenetic screening in routine pediatric oncology care.

Pharmacogenomics·2026
Same author

Analytical Validation of an Annotation Tool for WGS-Based Pharmacogenomics: Preparing for Clinical Implementation in Pediatric Oncology.

Clinical and translational science·2026
Same author

Pan-cancer evolution signatures link clonal expansion to dynamic changes in the tumor immune microenvironment.

Cell reports·2026
Same author

A comprehensive genetic catalog of human double-strand break repair.

Science (New York, N.Y.)·2025
Same author

Predicting resistance to chemotherapy using chromosomal instability signatures.

Nature genetics·2025
Same author

Prognostic Value of the G2 Expression Signature and MYC Overexpression in Childhood High-Grade Osteosarcoma.

JCO precision oncology·2025

関連する実験動画

Updated: Jun 4, 2025

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells
11:06

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

Published on: February 24, 2014

13.0K

遺伝するゲノム不安定性

Jayne Y Hehir-Kwa1, Geoff Macintyre2

  • 1Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands.

Science (New York, N.Y.)
|January 2, 2025
PubMed
まとめ

ゲルムラインの構造変異は,小児外頭蓋骨固体腫瘍の重要な危険因子です. これらの遺伝的変化を理解することは 危険にさらされている子どもを特定するために 極めて重要です

科学分野:

  • 遺伝学
  • 小児腫瘍学

背景:

  • 子どもの脳外固体腫瘍は 深刻な健康問題です
  • これらの癌の遺伝的基盤は完全に理解されていません.

研究 の 目的:

  • 小児の頭蓋骨外固体腫瘍の発達における生殖系構造変異の役割を調査する.

主な方法:

  • ゲノム全体の配列を解析し ゲルムラインの構造変異を特定した.
  • 小児がん患者群の変異データを分析した.

主要な成果:

  • 特定の生殖系統の構造変異と小児外頭蓋骨固体の腫瘍のリスクの増加との間に有意な関連性を特定しました.
  • 特定のタイプの構造変異は,罹患した個体においてより一般的であった.

結論:

  • ゲルムラインの構造的変異は,小児外頭蓋骨固体腫瘍の危険因子として確認されています.
  • これらの発見は,小児がんにおける遺伝的スクリーニングとリスクの階層化に役立つかもしれません.

さらに関連する動画

Visualizing and Quantifying Endonuclease-Based Site-Specific DNA Damage
10:59

Visualizing and Quantifying Endonuclease-Based Site-Specific DNA Damage

Published on: August 21, 2021

3.5K
Quantifying Replication Stress in Ovarian Cancer Cells Using Single-Stranded DNA Immunofluorescence
06:25

Quantifying Replication Stress in Ovarian Cancer Cells Using Single-Stranded DNA Immunofluorescence

Published on: February 10, 2023

2.0K

関連する実験動画

Last Updated: Jun 4, 2025

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells
11:06

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

Published on: February 24, 2014

13.0K
Visualizing and Quantifying Endonuclease-Based Site-Specific DNA Damage
10:59

Visualizing and Quantifying Endonuclease-Based Site-Specific DNA Damage

Published on: August 21, 2021

3.5K
Quantifying Replication Stress in Ovarian Cancer Cells Using Single-Stranded DNA Immunofluorescence
06:25

Quantifying Replication Stress in Ovarian Cancer Cells Using Single-Stranded DNA Immunofluorescence

Published on: February 10, 2023

2.0K