The nervous system is one of the most distinguishing characteristics of humans from other species. Compared with non-human primate species, the human brain is highly developed, mainly reflected in changes in brain volume. For example, human brain capacity is 20.6 times that of macaques, 14.4 times that of gibbons, and 4.3 times that of chimpanzees. Recently, scientists from the Kunming Institute of Zoology, Chinese Academy of Sciences have discovered new genes that affect human brain capacity.
In recent years, MRI brain imaging studies have shown that brain volume has a high heritability and is highly correlated with cognitive abilities such as IQ and memory. In addition, brain volume has obvious lesions in patients with various mental diseases (such as schizophrenia), so understanding the genetic basis of brain volume is of great significance for humans to study the pathogenesis of mental diseases and the molecular mechanism of neurogenesis. However, even with such high heritability, as of now, only a few genes have been found to be related to brain volume.
In order to find genes that may affect brain volume changes, researchers in the laboratory of Su Bing, a researcher at the Kunming Institute of Zoology, Chinese Academy of Sciences, selected 50 schizophrenia susceptibility genes and analyzed their relationship with brain volume variation in the Chinese Han Finally, it was found that the sequence variation site (rs31480, etc.) located in the 23.2-33.1 region of the long arm of chromosome 5 is strongly related to brain volume. Subsequently, through international cooperation, they repeated this result among the European population.
Further in vitro functional experiments proved that the sequence variation site rs31480 is located in the promoter region of interleukin-3 (IL3) gene and can affect the binding ability of transcription factor Sp1, thereby up-regulating the expression of interleukin-3 gene. Analysis in mice revealed that interleukin-3 and its receptors are mainly expressed in neural precursor cells of developing mice, and that interleukin-3 can promote the proliferation and survival of neural precursor cells. These results reveal that interleukin 3, in addition to its known function in the immune system, is also involved in the development of the central nervous system and thus affects brain volume.
The research results were recently published in the journal PLoS One (American Public Library Magazine Comprehensive).
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