duf1220 domain
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2018 ◽  
Vol 20 (suppl_2) ◽  
pp. i69-i69
Author(s):  
Matija Snuderl ◽  
Kasthuri Kannan ◽  
Elke Pfaff ◽  
Shiyang Wang ◽  
James Stafford ◽  
...  

2015 ◽  
Author(s):  
Fabian Zimmer ◽  
Stephen H Montgomery

The expansion of DUF1220 domain copy number during human evolution is a dramatic example of rapid and repeated domain duplication. However, the phenotypic relevance of DUF1220 dosage is unknown. 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 human brain evolution occurred through a continuation of existing processes.


2012 ◽  
Vol 91 (3) ◽  
pp. 444-454 ◽  
Author(s):  
Laura J. Dumas ◽  
Majesta S. O’Bleness ◽  
Jonathan M. Davis ◽  
C. Michael Dickens ◽  
Nathan Anderson ◽  
...  

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