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Functional study of primate-specific genes based on genotype-phenotype data of UK Biobank

Functional study of primate-specific genes based on genotype-phenotype data of UK Biobank

Principal Investigator: Professor Yong Zhang
Approved Research ID: 54701
Approval date: March 9th 2020

Lay summary

For decades, biologists are more interested in evolutionarily conserved genes, e.g. genes conserved across vertebrates or gene conserved across mammals. Thus, lineage-specific genes like primate-specific genes (PSGs, including those specific to humans) are seldom studied. In fact, one of our previous work showed that only 5% PSGs have been experimentally studied.

However, compared to old and conserved genes, PSGs are expected to be more likely to underlie our uniqueness, i.e., to make humans human. In another previous study of our lab, we identified hundreds of PSGs. We reanalyzed transcriptome data and found that PSGs tend to be preferentially recruited into organs with rapidly evolving pathways including spermatogenesis, mother-fetus interaction, immune response and brain development.

In this project, we aim to enhance the functional link between PSGs and fast-evolving traits based on genotype-phenotype data of UK Biobank. By taking advantage of UK Biobank data, we plan to analyze genomic variations especially PSGs' variations and phenotypes. And we expect that we should be able to identify novel PSG-harbored genetic variants underlying susceptibility of human diseases corresponding to the aforementioned processes, namely, reproductive diseases, immune diseases and neurological diseases. These will provide a deeper understanding of how evolution build human body.

The significance of understanding genetic basis of human uniqueness is self-explanatory. As it is often argued, what makes us stronger or smarter during the evolution may also make us sick. Thus, we need the knowledge about PSGs to better treat and diagnose the relevant diseases such as neurological diseases or reproductive diseases.

The project is expected to last three years (2020-2022).