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- W2008677609 abstract "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 at birth 2-3 mya, which is a time corresponding to the transition from Australopithecus to Homo and the beginning of neocortex expansion." @default.
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- W2008677609 date "2012-05-01" @default.
- W2008677609 modified "2023-10-16" @default.
- W2008677609 title "Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication" @default.
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- W2008677609 doi "https://doi.org/10.1016/j.cell.2012.03.033" @default.
- W2008677609 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3365555" @default.
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