"Science" magazine's official website recently reported that a new study exploring non-coding DNA has found that changes in the active regions of regulatory genes may also lead to autism. Surprisingly, these changes tend to be from non-autistic fathers. Where inherited. Over the past decade, researchers have discovered hundreds of genetic variants that may affect brain development, thereby increasing the risk of autism, but these mutations are mainly derived from DNA that encodes proteins directly. In addition, scientists have been trying to find out how to spontaneously generate mutations in the individual's genome rather than looking for genetic mutations from their parents. The author of the study, the University of California Geneticist Jonathan Sebot, said: "Only 2% of the genome consists of protein-coding genes. Those non-coding parts of what is called 'junk' DNA have so far been ignored in research on autism. ." The Sabot team was particularly interested in the non-coding DNA parts that regulate gene expression. They studied whole genome sequences from 829 families, including individuals with autism, siblings without autism, and their parents. Assessing the impact of DNA base changes in individuals' non-coding regions is very difficult. Therefore, the team selected so-called large sequence DNA structural variants as the object of investigation. Each person has only a few thousand structural variations in their genome, which reduces the scope of the analysis and requires only a small number of genetic structural variants to be examined. They looked for areas in the general population where variation was less than expected, including sites responsible for regulating gene activity during brain development and initiating gene transcription, and then examining the effect of parents on autism and non-autistic children. Whether the structural variants of these regions are related to autism. The researchers found that the father delivered more than 50% of the variants, suggesting that children with autism may have inherited risk variability from the father rather than the mother. To verify this result, the Sebot team subsequently tested a sample of another 1,771 households, again validating the above conclusions. In this regard, Lusica Pesciotto, neuroscientist and computational biologist at Washington State University in Spokane, said: “This is a very good article. Although it is challenging, let us think about the genetics of autism. Different causes, this is a huge contribution to the field." (Reporter Fanglin Lin)
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