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Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis |
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| Authors: | Jen Joanna C Chan Wai-Man Bosley Thomas M Wan Jijun Carr Janai R Rüb Udo Shattuck David Salamon Georges Kudo Lili C Ou Jing Lin Doris D M Salih Mustafa A M Kansu Tülay Al Dhalaan Hesham Al Zayed Zayed MacDonald David B Stigsby Bent Plaitakis Andreas Dretakis Emmanuel K Gottlob Irene Pieh Christina Traboulsi Elias I Wang Qing Wang Lejin Andrews Caroline Yamada Koki Demer Joseph L Karim Shaheen Alger Jeffry R Geschwind Daniel H Deller Thomas Sicotte Nancy L Nelson Stanley F Baloh Robert W Engle Elizabeth C |
| Affiliation: | Department of Neurology, University of California, Los Angeles, CA 90095, USA. jjen@ucla.edu |
| Abstract: | The mechanisms controlling axon guidance are of fundamental importance in understanding brain development. Growing corticospinal and somatosensory axons cross the midline in the medulla to reach their targets and thus form the basis of contralateral motor control and sensory input. The motor and sensory projections appeared uncrossed in patients with horizontal gaze palsy with progressive scoliosis (HGPPS). In patients affected with HGPPS, we identified mutations in the ROBO3 gene, which shares homology with roundabout genes important in axon guidance in developing Drosophila, zebrafish, and mouse. Like its murine homolog Rig1/Robo3, but unlike other Robo proteins, ROBO3 is required for hindbrain axon midline crossing. |
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