09 August 2023

Researchers have created a database of the most "mysterious" human genes

Researchers have described human genes and the proteins they encode, the functions of which are unknown.

Geneticists from the University of Oxford and the MRC Laboratory of Molecular Biology in Cambridge have unveiled the publicly available Unknome database. It contains information for future research on genes that code for proteins but have not yet been studied.

Sequencing of the human genome has revealed that it encodes thousands of likely protein sequences, the functions of many of which are still unknown, the study authors explain. This is because research is dependent on funding and often focuses on known targets for treating certain diseases.

But the risks of ignoring these proteins are significant, the scientists suggest, because some of them, and possibly many, play important roles in critical cellular processes and can both provide insight into the principles of biochemical processes and uncover new targets for therapeutic intervention.

To demonstrate how this database can be utilized, the researchers sampled 260 human genes assessed as unknown (for which there are no or little studies defining function and effects on the organism). The scientists found similar genes in the genome of the laboratory fly Drosophila.

During the experiment, using CRISPR, the researchers sequentially switched off genes from this sample in developing flies. As a result of these changes, most of the flies did not survive. This shows that genes that scientists know nothing about encode the production of critical proteins.

By removing gene expression in only some of the flies' tissues but not others, the researchers were able to identify individual functions. For example, some genes in the sample were linked to male fertility, body development, and stress response. The researchers hope the database will form the basis for future studies and genetic experiments that will close blind spots in the human genome.

Found a typo? Select it and press ctrl + enter Print version