De novo origin of human protein-coding genes

PLoS Genet. 2011 Nov;7(11):e1002379. doi: 10.1371/journal.pgen.1002379. Epub 2011 Nov 10.


The de novo origin of a new protein-coding gene from non-coding DNA is considered to be a very rare occurrence in genomes. Here we identify 60 new protein-coding genes that originated de novo on the human lineage since divergence from the chimpanzee. The functionality of these genes is supported by both transcriptional and proteomic evidence. RNA-seq data indicate that these genes have their highest expression levels in the cerebral cortex and testes, which might suggest that these genes contribute to phenotypic traits that are unique to humans, such as improved cognitive ability. Our results are inconsistent with the traditional view that the de novo origin of new genes is very rare, thus there should be greater appreciation of the importance of the de novo origination of genes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cerebral Cortex / metabolism
  • Evolution, Molecular*
  • Gene Expression Profiling
  • Genes*
  • Humans
  • Male
  • Open Reading Frames / genetics*
  • Phenotype
  • Testis / metabolism