International Journal of Molecular Evolution and Biodiversity 2024, Vol.14, No.1, 10-17 http://ecoevopublisher.com/index.php/ijmeb 15 At the same time, the discovery of these genetic variations proves that humans improve their ability to survive and reproduce through genetic adaptive evolution when facing extreme environmental pressures. The revelation of these genetic mechanisms provides important clues for understanding human evolution. In addition, research on high-altitude adaptability also indicates that human genetic diversity is an important resource for responding to environmental changes. The adaptation of different populations to the same environmental pressure demonstrates the diversity of genetic strategies, which is an important driving force for human evolution. 4 Adaptation to High Altitude and Human Evolution 4.1 Models of adaptive evolution The adaptation of humans to high-altitude environments is an important case in adaptive evolution research. Based on the results of GWAS, we can gain a deeper understanding of how humans adapt to extreme environmental challenges through genetic variation. In high-altitude environments, low oxygen is the most direct and significant survival challenge, and humans have shown various adaptive evolutionary patterns. The key genetic variations related to high-altitude adaptability, such as EPAS1 and EGLN1, reveal the key genetic mechanisms for human survival in low oxygen environments. The variation of these genes affects the stability and activity of hypoxia inducible factor (HIF), which in turn regulates hemoglobin production, energy metabolism, and other physiological adaptation processes. This genetic adaptation not only reflects the physiological adaptation of humans to specific environments, but also reflects the plasticity and evolutionary potential of the human genome. These evolutionary patterns of genetic adaptation are also reflected in the geographical distribution of genetic variations. Although people living in different high-altitude areas face similar challenges of hypoxia, there may be differences in specific adaptive genetic variations, indicating the diversity and complexity of human adaptive evolution. For example, Heinrich et al. (2019) found that the protein coding variation of the EGLN1 gene related to the adaptation of the Xizang plateau population either does not exist in the Andean highland residents or has a very low frequency, indicating that the high-altitude adaptation of the Andean population may involve a different mechanism from that of the Xizang population, indicating that different populations may have different mechanisms for adapting to high-altitude. 4.2 Comparison with other adaptive studies Comparing high-altitude adaptability research with other environmental adaptability studies can reveal the commonalities and specificities of human adaptive evolution. For example, research on tropical disease resistance has found that adaptive genetic variations targeting diseases such as malaria, such as sickle cell disease and G6PD deficiency, also reflect human adaptive evolution to specific environmental challenges. G6PD deficiency is an X-linked enzyme deficiency disorder that affects intracellular reduction processes by altering NADPH levels in red blood cells, and is associated with human adaptive resistance to diseases such as malaria. Kawamoto et al. (2017) found significant differences in the distribution and variation types of G6PD deficiency in different geographical locations and populations, reflecting human adaptation to environmental challenges, particularly malaria. For example, in Southeast Asia, including Vietnam and China, studies have found multiple variants of G6PD deficiency. Howes et al. (2013) found that certain variants of G6PD deficiency may be associated with malaria resistance. This is of great significance in human evolution, as these variants have been particularly common in malaria endemic areas throughout history, indicating that they may have provided carriers with some survival advantage. The commonality of these adaptive evolutions is that humans are able to cope with environmental challenges through genetic variations, which provide advantages for survival or reproduction in specific environments and are therefore preserved by natural selection. Meanwhile, these studies also reveal the specificity of adaptive evolution, that is, humans adopt different adaptive genetic strategies under different environmental pressures, which may involve different genes, biological pathways, and molecular mechanisms.
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