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Updated: Jun 20, 2026
09:37
An Integrated Approach for Microprotein Identification and Sequence Analysis
Published on: July 12, 2022
Recent de novo origin of human protein-coding genes
David G Knowles1, Aoife McLysaght
1Smurfit Institute of Genetics, University of Dublin, Trinity College, Ireland.
Genome Research
|September 4, 2009
Summary
Scientists discovered at least three new human protein-coding genes originating from noncoding DNA. This rare evolutionary event, distinct from gene duplication, provides novel insights into human genetic innovation.
Area of Science:
- Evolutionary biology
- Genomics
- Molecular evolution
Background:
- Gene duplication and recombination are primary mechanisms for new gene evolution.
- The de novo origin of protein-coding genes from noncoding DNA is exceptionally rare in eukaryotes.
Purpose of the Study:
- To investigate the de novo origin of novel human-specific protein-coding genes.
- To provide evidence for genes originating from ancestrally noncoding sequences in the human lineage.
Main Methods:
- Comparative genomics analysis across primate species (human, chimpanzee, macaque, gorilla, gibbon).
- Validation using gene expression data and proteomics evidence.
- Sequence analysis to rule out sequencing errors or annotation artifacts.
Main Results:
- Identification of at least three human protein-coding genes lacking homologs in other primates.
- Evidence suggests these genes arose from noncoding DNA after divergence from chimpanzees.
- Shared disabling mutations in other primates support de novo origin over parallel inactivation.
Conclusions:
- This study presents the first evidence of entirely novel human-specific protein-coding genes originating from ancestrally noncoding sequences.
- This mechanism contributes to evolutionary innovation, with an estimated 18 such genes in the human genome.
- One identified gene shows potential relevance in chronic lymphocytic leukemia.
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