Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication

  title={Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication},
  author={Megan Y. Dennis and Xander Nuttle and Peter Sudmant and Francesca Antonacci and Tina A. Graves and Mikhail Nefedov and Jill A Rosenfeld and Saba Sajjadian and Maika Malig and Holland Kotkiewicz and Cynthia J R Curry and Susan Shafer and Lisa G. Shaffer and Pieter J. de Jong and Richard K. Wilson and Evan E. Eichler},
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… CONTINUE READING
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