Phylogenetic Analysis Supports a Link between DUF1220 Domain Number and Primate Brain Expansion

Genome Biol Evol. 2015 Jun 25;7(8):2083-8. doi: 10.1093/gbe/evv122.


The expansion of DUF1220 domain copy number during human evolution is a dramatic example of rapid and repeated domain duplication. Although patterns of expression, homology, and disease associations suggest a role in cortical development, this hypothesis has not been robustly tested using phylogenetic methods. Here, we estimate DUF1220 domain counts across 12 primate genomes using a nucleotide Hidden Markov Model. We then test a series of hypotheses designed to examine the potential evolutionary significance of DUF1220 copy number expansion. Our results suggest a robust association with brain size, and more specifically neocortex volume. In contradiction to previous hypotheses, we find a strong association with postnatal brain development but not with prenatal brain development. Our results provide further evidence of a conserved association between specific loci and brain size across primates, suggesting that human brain evolution may have occurred through a continuation of existing processes.

Keywords: DUF1220 domains; NBPF; autistic spectrum disorder; brain evolution; primates.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Brain / anatomy & histology*
  • Brain / growth & development
  • Evolution, Molecular*
  • Genomics
  • Humans
  • Markov Chains
  • Phylogeny
  • Primates / genetics
  • Protein Structure, Tertiary / genetics*