基因多态对人类免疫细胞基因表达的影响
Benjamin J Schmiedel1, Divya Singh1, Ariel Madrigal1
1La Jolla Institute for Allergy and Immunology, La Jolla, CA 92037, USA.
Cell
|November 20, 2018
概括
DICE 数据库揭示了基因变异如何影响人类免疫细胞的基因表达. 许多基因显示细胞类型特定的遗传关联,为疾病机制提供了洞察力.
科学领域:
- 基因组学
- 免疫学
- 系统生物学
背景情况:
- 遗传变异与人类疾病有关,但它们对特定免疫细胞的基因表达的影响尚不清楚.
- 了解细胞类型特定的基因调节对于破译疾病的发病性至关重要.
研究的目的:
- 建立DICE数据库,对免疫细胞表达,表达定量特征位置 (eQTL) 和表观遗传学进行编目.
- 在不同类型的人体免疫细胞中识别影响基因表达的基因变异.
主要方法:
- 对多种人类免疫细胞类型的基因表达和基因型数据的分析.
- 鉴定cis-eQTLs (基因型与基因表达之间的cis关联).
- 研究基因表达的细胞类型特异性和基于性别的差异.
主要成果:
- 确定了12254个独特基因的cis-eQTL (61%的表达基因).
- 发现这些基因中有41%具有单个细胞类型的基因型关联.
- 观察到与生物性别相关的细胞特异性基因表达差异.
结论:
- DICE数据库提供了一个全面的资源,以了解对免疫细胞功能的遗传影响.
- 细胞类型特定的eQTL是常见的,强调了细胞环境在遗传调节中的重要性.
- 这些发现提供了有关遗传多态化如何导致疾病风险和病变的机制性见解.
相关概念视频
Cell Specific Gene Expression
16.5K
Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
16.5K
Cell Specific Gene Expression
5.6K
5.6K
What is Gene Expression?
196.7K
Overview
Gene expression is the process in which DNA directs the synthesis of functional products, that is, proteins. Cells can regulate gene expression at various stages. It allows organisms to generate different cell types and enables cells to adapt to internal and external factors.
Genetic Information Flows from DNA to RNA to Protein
A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is made up of nucleotides and proteins consist of amino...
Gene expression is the process in which DNA directs the synthesis of functional products, that is, proteins. Cells can regulate gene expression at various stages. It allows organisms to generate different cell types and enables cells to adapt to internal and external factors.
Genetic Information Flows from DNA to RNA to Protein
A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is made up of nucleotides and proteins consist of amino...
196.7K
What is Gene Expression?
11.4K
A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is comprised of nucleotides and proteins are comprised of amino acids, a mediator is required to convert the information encoded in DNA into proteins. This mediator is the messenger RNA (mRNA). mRNA copies the blueprint from DNA by a process called transcription. In eukaryotes, transcription occurs in the nucleus by complementary base-pairing with the DNA template. The mRNA is then...
11.4K
Chromatin Position Affects Gene Expression
24.8K
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...
24.8K
Mutation, Gene Flow, and Genetic Drift
64.3K
In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
64.3K


