在通过辅助生殖产生的家鼠中,de novo单核酸突变率的适度增加
Laura Blanco-Berdugo1, Alexis Garretson1,2, Beth L Dumont3,2,4
1The Jackson Laboratory, Bar Harbor, Maine 04609, USA.
Genome research
|November 13, 2025
概括
辅助生殖技术 (ART) 可能会增加DNA突变率. 这项研究发现,在通过ART怀孕的小鼠中,新单核酸变异的发生率高出约30%,这表明基因组的潜在不稳定性.
科学领域:
- 遗传学 是一个遗传学.
- 生殖生物学 生殖生物学
- 基因组学就是基因组学.
背景情况:
- 辅助生殖技术 (ART) 被广泛使用,美国约2.6%的分娩是通过这种方式进行的.
- 虽然像IVF这样的ART已知会影响表观遗传学,但它们对DNA序列稳定性的影响尚不清楚.
研究的目的:
- 用小鼠模型研究标准ART系列对基因组稳定性的影响.
- 为了确定ART程序是否会影响DNA突变的速率和频谱.
主要方法:
- 在ART衍生和自然受孕的小鼠中进行全基因组测序.
- 利用严格的管道进行新一代单核酸变体 (dnSNV) 发现.
- 分析了dnsnv突变谱和基因组背景.
主要成果:
- 与自然受孕的小鼠相比,ART衍生小鼠的dnsNV率增加了30% (P=0.017).
- 在队列之间没有发现差异丰富的突变特征.
- dnSNVs在特定的基因组环境中没有被丰富,这表明了整体的全基因组效应.
结论:
- 标准的ART程序在小鼠中似乎具有适度的突变性.
- 这些发现强调需要确定有助于增加突变脆弱性的特定ART程序.
- 进一步的研究对于评估ART在人类中的潜在突变性至关重要.
相关概念视频
01:16In-vitro Mutagenesis
16.0K
To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
16.0K
01:20Mismatch 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...
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