Ontology highlight
ABSTRACT:
SUBMITTER: Dennis MY
PROVIDER: S-EPMC3365555 | biostudies-literature | 2012 May
REPOSITORIES: biostudies-literature
Dennis Megan Y MY Nuttle Xander X Sudmant Peter H PH Antonacci Francesca F Graves Tina A TA Nefedov Mikhail M Rosenfeld Jill A JA Sajjadian Saba S Malig Maika M Kotkiewicz Holland H Curry Cynthia J CJ Shafer Susan S Shaffer Lisa G LG de Jong Pieter J PJ Wilson Richard K RK Eichler Evan E EE
Cell 20120503 4
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 duplica ...[more]