A ‘gene of prejudice’ has been discovered by researchers at the Sanford Stem Cell Institute at the University of California San Diego, shedding light on the variations in human personality and providing insights into autism spectrum disorders. The findings, published in Cell Reports, could potentially pave the way for the development of treatments to improve the social functioning of individuals with autism.

Williams syndrome, often referred to as ‘the opposite of autism,’ is a rare genetic condition caused by the deletion of approximately 25 genes in the 7q11.23 chromosomal region. This deletion leads to a distinct set of symptoms, including heart disease, developmental delay, and a strikingly engaging personality characterized by high sociability and talkativeness.

However, the social strengths associated with Williams syndrome can also make individuals particularly susceptible to abuse and bullying due to their trusting nature. In contrast, the 7q11.23 duplication syndrome, caused by a duplication in the same genetic region, results in behaviors opposite to those seen in Williams syndrome, including symptoms such as autism, social phobia, and selective mutism.

Researchers at UC San Diego focused on a specific gene, GTF2I, within the broader genetic region underlying Williams syndrome, hypothesizing that it plays a significant role in the social variation observed in the disorder. Dr. Alysson Muotri, the lead author of the study, described GTF2I as ‘the gene of prejudice,’ emphasizing its influence on social interactions.

To investigate the role of GTF2I, the researchers utilized human pluripotent stem cells to create brain organoids that mimic the fetal human brain, minus GFT2I. The results showed that the absence of the gene led to increased cell proliferation and altered brain development, indicating its crucial role in shaping social behavior.

The study’s findings offer valuable insights into the genetic mechanisms underlying variations in human personality and the development of autism spectrum disorders. By elucidating the role of GTF2I in social behavior, this research opens new avenues for potential treatments aimed at enhancing the social functioning of individuals with autism.