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Plumbing the ‘dark’ genome for new genes

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    Science & Technology
  • Published
    17th Feb, 2021


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.