Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.
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ABSTRACT:
SUBMITTER: Jen JC
PROVIDER: S-EPMC1618874 | biostudies-literature | 2004 Jun
REPOSITORIES: biostudies-literature
Publications
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.
Jen Joanna C JC Chan Wai-Man WM Bosley Thomas M TM Wan Jijun J Carr Janai R JR Rüb Udo U Shattuck David D Salamon Georges G Kudo Lili C LC Ou Jing J Lin Doris D M DD Salih Mustafa A M MA Kansu Tülay T Al Dhalaan Hesham H Al Zayed Zayed Z MacDonald David B DB Stigsby Bent B Plaitakis Andreas A Dretakis Emmanuel K EK Gottlob Irene I Pieh Christina C Traboulsi Elias I EI Wang Qing Q Wang Lejin L Andrews Caroline C Yamada Koki K Demer Joseph L JL Karim Shaheen S Alger Jeffry R JR Geschwind Daniel H DH Deller Thomas T Sicotte Nancy L NL Nelson Stanley F SF Baloh Robert W RW Engle Elizabeth C EC
Science (New York, N.Y.) 20040422 5676
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 ...[more]
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