相关实验视频
Updated: Jul 16, 2025

11:13
Using Mouse Oocytes to Assess Human Gene Function During Meiosis I
Published on: April 10, 2018
9.0K
在老鼠基因组中对非同义变异的基因约束
George Powell1,2, Michelle M Simon3, Sara Pulit4
1Li Ka Shing Centre for Health Information and Discovery, Big Data Institute, University of Oxford, Oxford, UK. gjp15@ic.ac.uk.
BMC genomics
|September 22, 2023
概括
我们开发了一种新的指标,非同义观察预期比率 (NOER),用于测量小鼠的基因约束. 在小鼠基因中较高的约束与更多的淘汰现型和与人类疾病相关的相关性有关.
科学领域:
- 进化遗传学的进化遗传学
- 进行比较的基因组学.
- 哺乳动物遗传学 哺乳动物遗传学
背景情况:
- 选择性约束,或由于负面选择而导致的变异枯竭,提供了对变异的功能影响和疾病机制的见解.
- 标志着小鼠的选择性约束,一个关键的哺乳动物模型,目前是有限的.
- 这项研究引入了一种新的指标来量化小鼠基因约束.
研究的目的:
- 用非同义观察预期比率 (NOER) 来量化小鼠基因约束.
- 为了研究小鼠基因约束和基因功能之间的关系.
- 评估小鼠模型对研究人类疾病变异的有用性.
主要方法:
- 使用来自野生老鼠种群 (Mus musculus sp和Mus spretus) 的全基因组测序数据计算NOER.
- 关联的小鼠基因约束与淘汰现象型的数量.
- 检查了小鼠基因约束和人类骨科病原体变异部位之间的关系.
主要成果:
- 鼠标基因约束与淘汰现象型的数量呈正相关,这表明对类基因的约束更强.
- 鼠标基因约束与人类ortologues的病原性变异部位有积极的相关性.
- 在小鼠中,NOER有效量化了基因约束及其功能关联.
结论:
- NOER 作为评估小鼠基因变异适应性后果的宝贵资源.
- 这些发现强调了类在选择性约束中的重要性,以及小鼠模型对人类疾病研究的相关性.
- 用更大的样本大小进行进一步的研究可以提高约束估计和物种间比较.
相关概念视频
Multi-species Conserved Sequences
4.0K
Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
4.0K
In-vitro Mutagenesis
14.0K
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.
14.0K
Incomplete Dominance
22.7K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
22.7K
Cis-regulatory Sequences
9.9K
Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
9.9K
Lethal Alleles
15.5K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
15.5K
Mouse Models of Cancer Study
5.6K
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,...
5.6K

