UNDER CONSTRUCTION: My personal website
Some ‘junk’ DNA produce materials (transcripts and proteins) relevant to cancer and rare diseases. These areas of ‘junk’ DNA are termed nORFs (novel Open Reading Frames). nORFs may present in regions of the genome that have undergone accelerated species-specific evolution. Human accelerated regions (HARs) are genomic features that show rapid human-lineage-specific evolution and that may be involved in gene regulation. Transposable elements (TEs) are genomic features that may also regulate gene expression in a species-specific way.
Here, we show that some nORFs dysregulated in schizophrenia and bipolar disease are in close proximity to HARs, and are in close proximity to and have correlated expression with TEs, suggesting that nORFs involved in schizophrenia and bipolar disease may be regulated by HARs and TEs in a species-specific way. Some of these nORFs are significantly associated with disease genetic variants.
We also show that nORF-encoded proteins can form structures. Overall, this work suggests new causal factors for schizophrenia and bipolar disease, which present novel drug targets. This work contributes to the growing idea that ‘junk’ DNA is functional in disease and cellular biology and hosts attractive therapeutic targets for multiple diseases.
This is my first publication, and I am equal first author.