Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis

Joanna C. Jen; Wai-Man Chan; Thomas M. Bosley; Jijun Wan; Janai R. Carr; Udo Rüb; David Shattuck; Georges Salamon; Lili C. Kudo; Jing Ou; Doris D. M. Lin; Mustafa A. M. Salih; Tülay Kansu; Hesham al Dhalaan; Zayed al Zayed; David B. MacDonald; Bent Stigsby; Andreas Plaitakis; Emmanuel K. Dretakis; Irene Gottlob; Christina Pieh; Elias I. Traboulsi; Qing Wang; Lejin Wang; Caroline Andrews; Koki Yamada; Joseph L. Demer; Shaheen Karim; Jeffry R. Alger; Daniel H. Geschwind; Thomas Deller; Nancy L. Sicotte; Stanley F. Nelson; Robert W. Baloh; Elizabeth C. Engle

doi:10.1126/science.1096437

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Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis

Journal article

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Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis

Joanna C. Jen, Wai-Man Chan, Thomas M. Bosley, Jijun Wan, Janai R. Carr, Udo Rüb, David Shattuck, Georges Salamon, Lili C. Kudo, Jing Ou, …

Science (American Association for the Advancement of Science), Vol.304(5676), pp.1509-1513

04/06/2004

DOI: https://doi.org/10.1126/science.1096437

PMCID: PMC1618874

PMID: 15105459

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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Title: Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis
Creators - without role: Joanna C. Jen - University of California, Los Angeles
Wai-Man Chan - University of California, Los Angeles
Thomas M. Bosley - University of California, Los Angeles
Jijun Wan - University of California, Los Angeles
Janai R. Carr - University of California, Los Angeles
Udo Rüb - University of California, Los Angeles
David Shattuck - University of California, Los Angeles
Georges Salamon - University of California, Los Angeles
Lili C. Kudo - University of California, Los Angeles
Jing Ou - University of California, Los Angeles
Doris D. M. Lin - University of California, Los Angeles
Mustafa A. M. Salih - University of California, Los Angeles
Tülay Kansu - University of California, Los Angeles
Hesham al Dhalaan - University of California, Los Angeles
Zayed al Zayed - University of California, Los Angeles
David B. MacDonald - University of California, Los Angeles
Bent Stigsby - University of California, Los Angeles
Andreas Plaitakis - University of California, Los Angeles
Emmanuel K. Dretakis - University of California, Los Angeles
Irene Gottlob - University of California, Los Angeles
Christina Pieh - University of California, Los Angeles
Elias I. Traboulsi - University of California, Los Angeles
Qing Wang - University of California, Los Angeles
Lejin Wang - University of California, Los Angeles
Caroline Andrews - University of California, Los Angeles
Koki Yamada - University of California, Los Angeles
Joseph L. Demer - University of California, Los Angeles
Shaheen Karim - University of California, Los Angeles
Jeffry R. Alger - University of California, Los Angeles
Daniel H. Geschwind - University of California, Los Angeles
Thomas Deller - University of California, Los Angeles
Nancy L. Sicotte - University of California, Los Angeles
Stanley F. Nelson - University of California, Los Angeles
Robert W. Baloh - University of California, Los Angeles
Elizabeth C. Engle - University of California, Los Angeles
Publication Details: Science (American Association for the Advancement of Science), Vol.304(5676), pp.1509-1513
Identifiers: 9948587008331
Academic Unit: King Saud University
Language: English
Resource Type: Journal article