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高海拔地区长期居住者的等位基因特异性表达研究

Study on Allele Specific Expression of Long-Term Residents in High Altitude Areas.

作者信息

He Chao, Zhu Bin, Gao Wenwen, Wu Qianjin, Zhang Changshui

机构信息

The General Hospital of Tibet Military Region, Lhasa, China.

Tsinghua University, Beijing, China.

出版信息

Evol Bioinform Online. 2024 May 30;20:11769343241257344. doi: 10.1177/11769343241257344. eCollection 2024.

Abstract

In diploid organisms, half of the chromosomes in each cell come from the father and half from the mother. Through previous studies, it was found that the paternal chromosome and the maternal chromosome can be regulated and expressed independently, leading to the emergence of allele specific expression (ASE). In this study, we analyzed the differential expression of alleles in the high-altitude population and the normal population based on the RNA sequencing data. Through gene cluster analysis and protein interaction network analysis, we found some changes occurred at the gene level, and some negative effects. During the study, we realized that the calmodulin homology domain may have a certain correlation with long-term survival at high altitude. The plateau environment is characterized by hypoxia, low air pressure, strong ultraviolet radiation, and low temperature. Accordingly, the genetic changes in the process of adaptation are mainly reflected in these characteristics. High altitude generation living is also highly related to cancer, immune disease, cardiovascular disease, neurological disease, endocrine disease, and other diseases. Therefore, the medical system in high altitude areas should pay more attention to these diseases.

摘要

在二倍体生物中,每个细胞中的染色体一半来自父方,一半来自母方。通过先前的研究发现,父本染色体和母本染色体能够独立调控和表达,从而导致等位基因特异性表达(ASE)的出现。在本研究中,我们基于RNA测序数据分析了高海拔人群和正常人群中等位基因的差异表达。通过基因聚类分析和蛋白质相互作用网络分析,我们发现在基因水平上发生了一些变化以及一些负面影响。在研究过程中,我们意识到钙调蛋白同源结构域可能与在高海拔地区的长期生存存在一定关联。高原环境具有缺氧、低气压、强紫外线辐射和低温等特点。相应地,适应过程中的遗传变化主要体现在这些特征上。高海拔地区的世代生活也与癌症、免疫疾病、心血管疾病、神经疾病、内分泌疾病及其他疾病高度相关。因此,高海拔地区的医疗系统应更加关注这些疾病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d5a9/11141219/928701eeb938/10.1177_11769343241257344-fig1.jpg

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