関連する実験動画
Updated: Dec 7, 2025

08:39
Culture of Bladder Cancer Organoids as Precision Medicine Tools
Published on: December 28, 2021
5.2K
人間の膀における体的変異と選択の広範な異質性
Andrew R J Lawson1, Federico Abascal1, Tim H H Coorens1
1Cancer, Ageing and Somatic Mutation Programme, Wellcome Sanger Institute, Hinxton CB10 1SA, UK.
まとめ
体の変異とクローン選択は正常な人の膀で起こります 遺伝的変異は個体によって大きく変化し,尿路内の多様な変異過程を強調しています.
科学分野:
- ゲノミクス
- 泌尿器科
- 癌 生物学
背景:
- ヒトの正常な膀における体内の変異とクローン選択の風景はほとんど特徴づけられていない.
- これらのプロセスを理解することは 膀がんの初期段階の症状を解読するのに 極めて重要です
研究 の 目的:
- 体の変異とクローン選択の範囲とパターンを正常なヒトの泌尿器で調査する.
- 膀内の頻繁に変異した遺伝子とドライバー変異を特定する.
- 変異過程と選択における個体間の多様性を探求する.
主な方法:
- 20人の2097人の膀微生物検査のシーケンス
- 標的型,全エクソーム,全ゲノムシーケンシングのアプローチを使用した.
- 変異シグネチャーの分析と 遺伝的変異におけるポジティブな選択
主要な成果:
- 17の遺伝子で広範囲にわたる陽性選択を特定し,クロマチンの改造遺伝子は頻繁に変異した.
- クローン選択と駆動遺伝子の優位性における個体間での有意な変化が観察されました.
- 検体の22%でAPOBEC変異を含む尿路変異因子への差異的曝露を示唆する異質な変異シグネチャーが検出されました.
- 膀がんの遺伝子が 正常な泌尿器内には 変異がみられませんでした
結論:
- 正常なヒトの泌尿器は 体の変異とクローン選択の 複雑な風景を備えています
- 個体とクローンの間で有意な異質性が存在し,様々な変異の暴露と進化の軌道を示している.
- これらの発見は 膀がんに先立つ 初期の遺伝的現象について 重要な洞察を与えてくれます
関連する概念動画
Mismatch Repair
6.0K
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...
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...
6.0K
Mismatch Repair
43.1K
Overview
43.1K
Cancers Originate from Somatic Mutations in a Single Cell
14.2K
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...
14.2K
Mutations
42.3K
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
42.3K
Mutations
93.1K
Overview
93.1K
Adaptive Mechanisms in Cancer Cells
6.6K
Cancer cells accumulate genetic changes at an abnormally rapid rate due to the defects in the DNA repair mechanisms. From an evolutionary perspective, such genetic instability is advantageous for cancer development. Mutant cell lines accumulate a series of beneficial mutations that contribute to their progression into cancer.
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
6.6K

