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

Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

14.6K
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...
14.6K
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

61.7K
In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
61.7K
Mismatch Repair01:20

Mismatch Repair

6.3K
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...
6.3K
Mismatch Repair01:36

Mismatch Repair

43.5K
Overview
43.5K
Mutations in Microorganisms01:18

Mutations in Microorganisms

507
Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
507
Mutations01:39

Mutations

94.3K
Overview
94.3K

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

No evidence of immunosurveillance in mutation-hotspot-driven clonal hematopoiesis.

Nature genetics·2026
Same author

An analysis of succinate dehydrogenase B in pleural mesothelioma.

Discover oncology·2026
Same author

Single-cell RNA sequencing of terminal ileal biopsies identifies signatures of Crohn's disease pathogenesis.

Nature genetics·2026
Same author

Dietary intake, fatty acid in adipose tissue and cardio-metabolic health: cross-sectional study from the TwinsUK cohort.

Nutrition & diabetes·2026
Same author

An ancestry-enriched HNF4A variant and GP2 reveal distinct mechanisms of type 2 diabetes in exome-wide study of 13,674 cases and 41,024 controls.

medRxiv : the preprint server for health sciences·2026
Same author

Large-scale analysis of temporal gene expression variation in peripheral blood.

Nature communications·2026
Same journal

Retraction Note: NSD2 targeting reverses plasticity and drug resistance in prostate cancer.

Nature·2026
Same journal

Enhanced B cell priming induces broadly neutralizing HIV-1 apex antibodies.

Nature·2026
Same journal

Vaccination elicits HIV broadly neutralizing antibodies in primates.

Nature·2026
Same journal

Child online safety needs more than social-media bans.

Nature·2026
Same journal

Ebola preparedness must start with ecosystems and before humans show symptoms.

Nature·2026
Same journal

AI tools can speed up thinking, but evidence still comes from the lab bench.

Nature·2026
関連記事をすべて見る

関連する実験動画

Updated: Jan 15, 2026

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
04:52

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

1.3K

集団規模での体内の変異と選択

Andrew R J Lawson1, Federico Abascal1, Pantelis A Nicola1

  • 1Cancer, Ageing and Somatic Mutation Programme, Wellcome Sanger Institute, Hinxton, UK.

Nature
|October 8, 2025
PubMed
まとめ
この要約は機械生成です。

肉体の変異を持つ顕微鏡のクローンは老化組織に多く見られ,癌や病気を引き起こす可能性があります. 新しいシーケンシング方法であるNanoSeqは これらの変異を正確に検出し 選択の風景と 進化に影響を与える要因を明らかにします

さらに関連する動画

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

19.9K
Development of Targeting Induced Local Lesions IN Genomes TILLING Populations in Small Grain Crops by Ethyl Methanesulfonate Mutagenesis
08:36

Development of Targeting Induced Local Lesions IN Genomes TILLING Populations in Small Grain Crops by Ethyl Methanesulfonate Mutagenesis

Published on: July 16, 2019

12.2K

関連する実験動画

Last Updated: Jan 15, 2026

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
04:52

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

1.3K
Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

19.9K
Development of Targeting Induced Local Lesions IN Genomes TILLING Populations in Small Grain Crops by Ethyl Methanesulfonate Mutagenesis
08:36

Development of Targeting Induced Local Lesions IN Genomes TILLING Populations in Small Grain Crops by Ethyl Methanesulfonate Mutagenesis

Published on: July 16, 2019

12.2K

科学分野:

  • ゲノミクス
  • 分子生物学
  • 癌 研究

背景:

  • 老化している組織は体内のドライバ変異を持つ顕微鏡のクローンを蓄積し,潜在的に癌を起こすか老化に寄与する.
  • 小さなクローンで突然変異を検出することは 困難であり この現象に対する理解を 制限しています
  • 肉体の変異は老化や病気に関与しますが,その正確なメカニズムや選択圧力は十分に理解されていません.

研究 の 目的:

  • 小型クローンにおける体変異の感知性検出のためのナノレートシーケンシング (NanoSeq) の高度なバージョンを導入する.
  • 単一分子の感度を持つポリクローンサンプルで大量のクローンをプロファイリングする.
  • 変異率,シグネチャー,様々な組織における ドライバの周波数を正確に決定する.

主な方法:

  • 超低誤差率 (<50億塩基対の誤差) を有する新しい二重配列法 (NanoSeq) を利用した.
  • 標的のNanoSeqを1,042個の口腔表皮と371個の血液サンプルに投与した.
  • 多変量回帰モデルを用いて,体内の突然変異の獲得と選択に対する暴露とリスク因子の影響を研究した.

主要な成果:

  • 口内皮質の豊かな選択環境を明らかにし 46の遺伝子が正選択され 62,000以上のドライバ変異が特定されました
  • 重要な遺伝子の負の選択の証拠が観察され,突然変異の蓄積に対する制約を示しています.
  • 生体内の飽和変異に類似した,コーディングサイトと非コーディングサイトで選択の高解像度マップを生成した.
  • 年齢,タバコ,アルコールなどの要因が体内の変異パターンにどのように影響するかを示した.

結論:

  • NanoSeqによる単一分子の精密な配列化は,早期発がんとがん予防の研究の強力なツールです.
  • この技術は,老化と病気における体内の変異の役割の詳細な調査を可能にします.
  • 発見は,変異性疫学と体内変異に作用する選択圧力の洞察を提供します.