在活小鼠中快速和定量地对人类增强剂变体活动进行功能性询问
Ethan W Hollingsworth1,2, Taryn A Liu1, Sandra H Jacinto1
1Department of Developmental and Cell Biology, University of California, Irvine, CA 92697, USA.
bioRxiv : the preprint server for biology
|December 18, 2023
概括
这项研究引入了双-enSERT,这是一种用于分析活小鼠基因增强剂的新型报告系统. 它可以快速比较与先天性疾病相关的增强剂变体,有助于理解它们的功能影响.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 发展生物学 发展生物学
- 分子生物学分子生物学
背景情况:
- 在人类先天性疾病中,对非编码变异的功能分析受到有效的体内模型缺乏的阻碍.
- 了解增强剂的功能对于破译复杂疾病的遗传基础至关重要.
结论:
- 双-enSERT提供了一种简化和高效的方法来分析体内增强剂变体,加速从变体识别到功能评估的研究.
- 该技术可快速对活胚胎中增强剂活性进行比较分析,大大缩短了研究时间表.
- 该系统为剖析非编码变异在先天性疾病和其他疾病中的作用提供了一个强大的工具.
相关概念视频
01:16In-vitro Mutagenesis
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.
02:43Mouse Models of Cancer Study
Mice have long served as models for studying human biology and pathology because of their phylogenetic and physiological similarity with humans. They are also easy to maintain and breed in the laboratory, and hence, many inbred strains are now available for research. Studies on mice have contributed immeasurably to our understanding of cancer biology.
The development of transgenic, knockout, and knock-in mice has led to an exponential increase in their use as model organisms in research,...
The development of transgenic, knockout, and knock-in mice has led to an exponential increase in their use as model organisms in research,...