性别对人类组织基因表达的影响
Meritxell Oliva1,2,3, Manuel Muñoz-Aguirre4,5, Sarah Kim-Hellmuth6,7,8
1Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA. meritxellop@uchicago.edu barbara.stranger@northwestern.edu.
概括
这项研究对44种组织的基因表达和基因调节的性别差异进行了分类. 研究结果揭示了性别偏差的广泛基因表达和性别特异性的遗传影响.
科学领域:
- 基因组学
- 人类生理学
- 分子生物学
背景情况:
- 复杂的人类表型往往表现出性别差异化的特征.
- 这些性别差异的分子基础尚不清楚.
研究的目的:
- 在基因表达及其在各种人体组织中的遗传调节方面创建一个全面的性别差异目录.
- 研究性别如何影响基因表达水平和组织细胞组成.
- 识别与人类特征的性别特异性遗传联系.
主要方法:
- 使用了44种人类组织类型的基因型-组织表达 (GTEx) 项目的数据 (v8版本).
- 分析了基因表达水平,并确定了具有性别差异化的 cis 表达定量特征位点 (eQTL).
- 综合性偏差的eQTL与全基因组关联研究 (GWAS) 数据.
主要成果:
- 性别显著影响人类组织中的基因表达水平和细胞组成.
- 37% 的基因至少在一个组织中表现出性别偏差.
- 通过基因表达的性别特异性基因调控确定了58个基因特征关联.
结论:
- 这项研究提供了人类转录组及其遗传调节中的性别差异的广泛描述.
- 这项发现强调了在了解人类生物学和疾病方面考虑性的重要性.
- 性别特定的遗传调节有助于人类特征的遗传基础.
相关概念视频
Chromatin Position Affects Gene Expression
24.4K
Chromatin is the massive complex of DNA and proteins packaged inside the nucleus. The complexity of chromatin folding and how it is packaged inside the nucleus greatly influences access to genetic information. Generally, the nucleus' periphery is considered transcriptionally repressive, while the cell's interior is considered a transcriptionally active area.
Topologically Associated Domains (TADs)
The 3-dimensional positioning of chromatin in the nucleus influences the...
Topologically Associated Domains (TADs)
The 3-dimensional positioning of chromatin in the nucleus influences the...
24.4K
The Ratio of X Chromosome to Autosomes
9.2K
In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
9.2K
X and Y Chromosomes
29.0K
Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
29.0K
General Transcription Factors
6.4K
Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
6.4K
Gene-Environment Interactions
917
Gene expression is a dynamic process that is significantly influenced by environmental factors. This interaction underlies the complex nature of biological development and the phenotypic differences observed among individuals, even among those with identical genetic makeups. Factors such as radiation, temperature, behavior, nutrition, and stress play pivotal roles in determining how genes are expressed. The concept of the reaction range is central to understanding this interaction. It posits...
917
Background and Environment Affect Phenotype
7.2K
Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
7.2K


