人类细胞中质子和α辐射诱导的突变特征
Tiffany M Delhomme1, Maia Munteanu1, Manuela Buonanno2
1Genome Data Science, Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Scientific reports
|June 16, 2023
概括
颗粒辐射暴露会导致人体细胞中微妙的DNA突变,包括集群突变和结构变异. 需要进一步的研究,以了解对不同组织的长期影响.
科学领域:
- 基因毒理学 基因毒理学
- 辐射生物学 辐射生物学
- 基因组学就是基因组学.
背景情况:
- 电离辐射是一种已知的DNA变异原体.
- 了解人类细胞中辐射诱导的突变足迹对于评估与太空旅行 (银河系宇宙辐射) 和癌症放射治疗相关的风险至关重要.
- 粒子辐射对人类细胞基因组的具体影响需要进一步研究.
研究的目的:
- 研究质子和α粒子辐射对人类血液,乳腺和肺细胞系的突变效应.
- 为了描述由此产生的突变足迹和基因毒性风险.
- 评估辐射诱导突变的细胞类型特异性.
主要方法:
- 将培养的人类细胞系 (血液,乳腺,肺) 暴露在分离的质子和α粒子束中.
- 给药剂量足以影响细胞活力.
- 执行全基因组测序来分析突变率,光谱和分布.
主要成果:
- 总体突变率并没有被质子和α粒子暴露显著增加.
- 观察到突变光谱的适度变化,包括集群突变的增加.
- 特定类型的插入/删除 (indels) 和结构变体显示了变化.
- 突变效应似乎取决于细胞类型和遗传背景.
结论:
- 对质子和α辐射的重复暴露对培养中的人类细胞产生了微妙的突变效应.
- 观察到的变化包括集群突变的增加和特定的indels/结构变异.
- 需要进一步的研究来阐明辐射暴露对各种人体组织的长期后果.
相关概念视频
Mutations
38.3K
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...
38.3K
Spontaneous and Induced Mutations
45
Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).
45
Mutagenicity and Carcinogenicity
1.3K
Mutagenicity and carcinogenicity refer to the ability of drugs to cause genetic defects and induce cancer, respectively. The International Agency for Research on Cancer (IARC) classifies agents into four groups based on their carcinogenic potential. Group 1 agents are known human carcinogens; group 2A agents are probably carcinogenic to humans; group 3 agents lack data to support their role in carcinogenesis; and group 4 includes agents for which data support that they are not likely to be...
1.3K
Nucleotide Excision Repair
3.6K
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...
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...
3.6K
Mismatch Repair
4.9K
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...
4.9K
Other Unique Bacteria
36
Magnetic bacteria exhibit a directed movement called magnetotaxis, driven by structures called magnetosomes. These magnetosomes consist of chains of magnetic particles made of either magnetite (Fe₃O₄) or greigite (Fe₃S₄) and are organized in a linear conformation by a protein scaffold within invaginations of the cell membrane. The bacteria align along the north–south magnetic field lines, much like a compass needle. They are typically microaerophilic or anaerobic...
36


