Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2023 Dec 13;14:8282. doi: 10.1038/s41467-023-44034-z

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© The Author(s) 2023

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

PMC Copyright notice

Fig. 5 — a Description of 17 SVs with an F_ST > 0.2 ordered by F_ST values. We discovered 3 novel SVs (highlighted in pink in the SV ID column) and 24 novel high-altitude-associated gene groups (highlighted in pink in the Gene column). b The biological functions (coloured rectangles) and tissue-specific high expression (coloured lines) of the protein-coding genes located near the top 17 population-specific SVs (black or white hexagons) are visualized in a network. Most of these genes are related to the response to hypoxia, inflammation, glucose, lipid and energy metabolism, insulin receptor signalling, blood coagulation and keratin filaments in these tissues, indicating their roles in high-altitude adaptation. c Venn diagram of nearby genes related to SNPs, InDels and SVs with an F_ST > 0.2. The high consistency between the associated genes of SNPs, InDels and SVs indicates coincidental natural selection at high altitudes. The non-overlapping genes suggest special functions of these genomic variations. d Comparison of Fluorescence intensity for the dbsv66240 deletion and control reporter proves that the deleted sequence is an enhancer. Kidney-derived 293T cells were transfected with the pGL3 control vector, Seg1, Seg2, Seg3 or Seg4 (n = 5 independent experiments per group, statistical analysis was analyzed using two-sided student’s t-test, and results were presented as mean±SD). The pRL-TK plasmid encoding the Renilla luciferase gene was cotransfected into these cells and used as an internal control for transfection efficiency. Both firefly luciferase and Renilla luciferase activities were sequentially measured 48 h after transfection. Source data are provided as a Source Data file. e EPAS1 expression in wild-type (WT, n = 3 biological independent replicates) 293T cells and dbsv66240-homozygous knock-out (dbsv66240^-/-, n = 3 biological independent replicates) 293T cells verified using RT-qPCR (top panel). Statistical analysis was analyzed using two-sided student’s t-test, and results were presented as mean±SD. The abundance of unmodified EPAS1 in WT and dbsv66240^-/- (n = 2 independent experiments per group) verified by immunoblotting (bottom panel). dbsv66240^-/- downregulated EPAS1 at the transcriptional and translational levels. Source data are provided as a Source Data file.