Open AccessPhylogenetic Analysis Supports a Link between DUF1220 Domain Number and Primate Brain Expansion
Author(s) -
Fabian Zimmer,
Stephen H. Montgomery
Publication year - 2015
Publication title -
genome biology and evolution
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.702
H-Index - 74
ISSN - 1759-6653
DOI - 10.1093/gbe/evv122
Subject(s) - biology , brain size , neocortex , phylogenetic tree , phylogenetics , evolutionary biology , homology (biology) , brain development , primate , human brain , gene duplication , genetics , neuroscience , gene , medicine , radiology , magnetic resonance imaging
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.