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.
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.
