American researchers have used artificial intelligence (AI) models to reveal genomic mutations that may affect human cognitive evolution. This pioneering study of human genomics may promote the discovery of new therapies for complex brain diseases. The study was published in the new issue of Progress in Science. Cognition is a decisive feature of human evolution, which makes humans different from other primates. Although more than 100 million mutations have occurred since humans and chimpanzees parted ways, only a small part is considered important. In order to control this huge picture of genomic change, researchers from the National Library of Medicine and the National Cancer Institute of the United States have created an AI model of gene regulation in the human brain. The model identified thousands of mutations that may affect the development of neocortex and promote the ability to obtain by changing the brain gene regulation mechanism. When the human genome was sequenced in 2001, scientists learned that only 2% of the genome sequence was used to encode genes, and these genes would be converted into proteins. This is the sequence information that every cell is using. The functions of other 98% of human DNA (commonly referred to as "non-coding DNA") are still relatively unknown, while 95% of disease associations are hidden in these non-coding parts of the human genome. The AI model created by the research team can measure the impact of non-coding genome mutations on human brain function and development. The study found a group of non-coding mutations that destroy the brain regulation pathway. These mutations may lead to various complex brain diseases, including autism. Researchers said that there are some treasure islands in the non-coding DNA ocean of the human genome, which are crucial for regulating human genes. Mutations in these regions are largely benign, but one type of mutations will adversely affect the function of the brain's regulatory regions and affect cell activity there. By addressing the impact of individual mutations, people are moving towards understanding complex diseases and underlying mechanisms, and paving the way for the development of new treatments. Researchers said that this basic work may have a long-term impact on human health and promote the study of human brain complexity. (Xinhua News Agency)
Edit：Ying Ying Responsible editor：Zhou Shu
Source：digitalpaper.stdaily.com
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