Plumbing the ‘dark’ genome for new genes

Context

A team from the University of Cambridge set out to find whether new genes emerge in the genome of living organisms or they are present in the dark genome.

What is a dark genome?

• The human genome contains “dark” gene regions.
• These genes cannot be adequately assembled or aligned using standard short-read sequencing technologies.
• It prevents researchers from identifying mutations within these gene regions that may be relevant to human disease. 

novel Open Reading Frames (nORFs)

• The number of ‘known’ genes – encoding around 20,000 ‘known’ proteins - has remained constant. Only 1.5% of the entire human genome codes for proteins.
• Some ‘novel’ genomic regions cannot be defined by our current ‘definition’ of a gene. These novel regions are called novel Open Reading Frames or as nORFs.
• The nORFs were seen as dysregulated in 22 cancer types.
• Dysregulated is a term that means that they could either be mutated, upregulated, or downregulated, or they could be uniquely present.
• They have also identified 50 such novel proteins disrupted in schizophrenia and bipolar disorder.