A team from the University of Cambridge set out to find whether new genes emerge in the genome of living organisms and if they do, how they do so. They have now catalogued 1,94,000 novel regions.

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Novel genomic regions

• The ‘novel’ genomic regions cannot be defined by our current ‘definition’ of a gene.
• Hence, researchers call these novel regions – novel Open Reading Frames or as nORFs.
• Researchers found that the mutations in nORFs do have physiological consequences and a majority of mutations that are often annotated as benign have to be re-interpreted.

What novel did the researchers find?

• nORF regions were uniquely present in the cancer tissues and not present in the control tissue.
• They found that some nORF disruptions strongly correlated with the survival of patients.
• nORFs proteins can form structures, can undergo biochemical regulation like known proteins and be targeted by drugs in case they are disrupted in diseases.
• The researchers also identified these nORFs in Plasmodium falciparum, the parasite which causes the deadliest form of malaria.

Connected to disease

• The research found that these regions are also broadly involved in diseases.
• The nORFs were seen as dysregulated in 22 cancer types.
• Dysregulated is a term which means that they could either be mutated, upregulated, or downregulated, or they could be uniquely present.

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