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

Fabian Zimmer, Stephen H Montgomery

Research output: Contribution to journalArticle (Academic Journal)peer-review


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.

Original languageEnglish
Pages (from-to)2083-8
Number of pages6
JournalGenome Biology and Evolution
Issue number8
Publication statusPublished - 25 Jun 2015

Bibliographical note

© The Author(s) 2015. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.


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

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