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Phylogenetic analysis supports a link between DUF1220 domain number and primate brain expansion

Zimmer, F; Montgomery, SH; (2015) Phylogenetic analysis supports a link between DUF1220 domain number and primate brain expansion. Genome Biology and Evolution , 7 (8) pp. 2083-2088. 10.1093/gbe/evv122. Green open access

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Abstract

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.

Type: Article
Title: Phylogenetic analysis supports a link between DUF1220 domain number and primate brain expansion
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1093/gbe/evv122
Publisher version: http://dx.doi.org/10.1093/gbe/evv122
Additional information: © The Author(s) 2015. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
Keywords: DUF1220 domains, NBPF, autistic spectrum disorder, brain evolution, primates
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
URI: https://discovery.ucl.ac.uk/id/eprint/1472853
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