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Science. 2004 Jun 4;304(5676):1509-13. Epub 2004 Apr 22.

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.

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  • 1Department 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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PMID:
15105459
[PubMed - indexed for MEDLINE]
PMCID:
PMC1618874
Free PMC Article

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