A new study led by Vakirlis lab shows that novel microproteins have evolved entirely "from scratch" all along the human lineage. Two of them are unique to humans.
Human microproteins encoded by small Open Reading Frames have been shown to perform crucial biological roles. How do such functional elements arise during evolution? A new study led by Nikos Vakirlis (Evolutionary Genomics lab) and published in Cell Reports has tackled this question. By comparing the human sequence to its corresponding ones across vertebrate genomes, the study showed that 155 human microproteins originated entirely de novo out of previously non-coding genomic sequences, with 44 among them having strong functional evidence. Out of these, some are ancient and their de novo origin can be traced as far back as the ancestor of all animals. But some are more recent, including two cases unique to humans. These cases demonstrate the rapid evolution of genetic novelty and how it shapes the human genome.
The study has been featured in many international websites including LiveScience, ScienceAlert, Inverse and GenomeWeb as well as Greek news outlets such as ERTnews and Naftemporiki .
Vakirlis, N., Vance, Z., Duggan, K.M., McLysaght, A., 2022. De novo birth of functional microproteins in the human lineage. Cell Reports 41. https://doi.org/10.1016/j.celrep.2022.111808