在全球多样化的人类队列中基因表达变异的来源
Dylan J Taylor1, Surya B Chhetri2, Michael G Tassia1
1Department of Biology, Johns Hopkins University, Baltimore MD, USA.
bioRxiv : the preprint server for biology
|November 15, 2023
概括
遗传变异影响人类特征,但过去的研究缺乏多样性. 这种新的RNA-seq数据集揭示了基因表达和拼接模式在大多数情况下是跨种群共享的,为基因组进化提供了更具包容性的观点.
科学领域:
- 基因组学就是基因组学.
- 人口遗传学 人口遗传学
- 分子生物学分子生物学
背景情况:
- 遗传变异推动了表型多样性,但人类研究偏向于欧洲祖先.
- 这种偏见限制了概括性,并阻碍了进化遗传研究.
研究的目的:
- 创建一个来自不同人类群体的开放式RNA-seq数据集 (MAGE).
- 为了研究基因表达和拼接变异在全球人口中的分布.
- 在多种群体中识别影响基因表达 (eQTLs) 和拼接 (sQTLs) 的遗传变异.
主要方法:
- 利用了来自5个大陆群的731个个体的淋巴细胞细胞系上的RNA测序 (1000基因组项目).
- 分析了基因表达和拼接变异模式.
- 绘制了与附近基因表达 (cis-eQTLs) 和拼接 (cis-sQTLs) 的遗传关联.
主要成果:
- 大多数基因表达 (92%) 和拼接 (95%) 变异发生在群体内,而不是在群体之间.
- 确定了超过15,000个cis-eQTL和16,000个cis-sQTL,其中许多是私人或代表性不足的人口.
- 在不同人群中发现了一致的eQTL效应大小和方向,挑战了以前关于人群特异效应的概念.
结论:
- 基因表达和拼接变异在人类种群中被广泛保留.
- MAGE数据集为研究人类基因组进化和功能提供了一个有价值的,包容性的资源.
- 未来的研究可以利用这些数据来探索各种全球人口特征的遗传影响.
更多相关视频
10:50Single-cell Gene Expression Profiling Using FACS and qPCR with Internal Standards
Published on: February 25, 2017
16.5K
09:34A Combinatorial Single-cell Approach to Characterize the Molecular and Immunophenotypic Heterogeneity of Human Stem and Progenitor Populations
Published on: October 25, 2018
6.7K
相关概念视频
Genetic Variation
297
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
Genes exist in different versions called alleles,...
297
Cell Specific Gene Expression
13.6K
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...
13.6K
General Transcription Factors
5.3K
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...
5.3K
What is Gene Expression?
167.8K
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...
167.8K
Comparing Copy Number Variations and SNPs
17.7K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.7K
Chromatin Position Affects Gene Expression
23.3K
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...
23.3K
