<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Dennis, Megan Y</style></author><author><style face="normal" font="default" size="100%">Nuttle, Xander</style></author><author><style face="normal" font="default" size="100%">Sudmant, Peter H</style></author><author><style face="normal" font="default" size="100%">Antonacci, Francesca</style></author><author><style face="normal" font="default" size="100%">Graves, Tina A</style></author><author><style face="normal" font="default" size="100%">Nefedov, Mikhail</style></author><author><style face="normal" font="default" size="100%">Rosenfeld, Jill A</style></author><author><style face="normal" font="default" size="100%">Sajjadian, Saba</style></author><author><style face="normal" font="default" size="100%">Malig, Maika</style></author><author><style face="normal" font="default" size="100%">Kotkiewicz, Holland</style></author><author><style face="normal" font="default" size="100%">Curry, Cynthia J</style></author><author><style face="normal" font="default" size="100%">Shafer, Susan</style></author><author><style face="normal" font="default" size="100%">Shaffer, Lisa G</style></author><author><style face="normal" font="default" size="100%">de Jong, Pieter J</style></author><author><style face="normal" font="default" size="100%">Wilson, Richard K</style></author><author><style face="normal" font="default" size="100%">Eichler, Evan E</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication.</style></title><secondary-title><style face="normal" font="default" size="100%">Cell</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Cell</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA Copy Number Variations</style></keyword><keyword><style  face="normal" font="default" size="100%">Evolution, Molecular</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetics, Medical</style></keyword><keyword><style  face="normal" font="default" size="100%">GTPase-Activating Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Hydatidiform Mole</style></keyword><keyword><style  face="normal" font="default" size="100%">In Situ Hybridization, Fluorescence</style></keyword><keyword><style  face="normal" font="default" size="100%">Mammals</style></keyword><keyword><style  face="normal" font="default" size="100%">Molecular Sequence Data</style></keyword><keyword><style  face="normal" font="default" size="100%">Pregnancy</style></keyword><keyword><style  face="normal" font="default" size="100%">Primates</style></keyword><keyword><style  face="normal" font="default" size="100%">Segmental Duplications, Genomic</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2012</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2012 May 11</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">149</style></volume><pages><style face="normal" font="default" size="100%">912-22</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Gene duplication is an important source of phenotypic change and adaptive evolution. We leverage a haploid hydatidiform mole to identify highly identical sequences missing from the reference genome, confirming that the cortical development gene Slit-Robo Rho GTPase-activating protein 2 (SRGAP2) duplicated three times exclusively in humans. We show that the promoter and first nine exons of SRGAP2 duplicated from 1q32.1 (SRGAP2A) to 1q21.1 (SRGAP2B) ∼3.4 million years ago (mya). Two larger duplications later copied SRGAP2B to chromosome 1p12 (SRGAP2C) and to proximal 1q21.1 (SRGAP2D) ∼2.4 and ∼1 mya, respectively. Sequence and expression analyses show that SRGAP2C is the most likely duplicate to encode a functional protein and is among the most fixed human-specific duplicate genes. Our data suggest a mechanism where incomplete duplication created a novel gene function-antagonizing parental SRGAP2 function-immediately &quot;at birth&quot; 2-3 mya, which is a time corresponding to the transition from Australopithecus to Homo and the beginning of neocortex expansion.&lt;/p&gt;
</style></abstract><issue><style face="normal" font="default" size="100%">4</style></issue><custom1><style face="normal" font="default" size="100%">&lt;p&gt;http://www.ncbi.nlm.nih.gov/pubmed/22559943?dopt=Abstract&lt;/p&gt;
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