Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis-Reference-Cited by-同舟云学术

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

Published:2004-06-04 Issue:5676 Volume:304 Page:1509-1513
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Jen Joanna C.¹²³⁴⁵,Chan Wai-Man¹²³⁴⁵,Bosley Thomas M.¹²³⁴⁵,Wan Jijun¹²³⁴⁵,Carr Janai R.¹²³⁴⁵,Rüb Udo¹²³⁴⁵,Shattuck David¹²³⁴⁵,Salamon Georges¹²³⁴⁵,Kudo Lili C.¹²³⁴⁵,Ou Jing¹²³⁴⁵,Lin Doris D. M.¹²³⁴⁵,Salih Mustafa A. M.¹²³⁴⁵,Kansu Tülay¹²³⁴⁵,al Dhalaan Hesham¹²³⁴⁵,al Zayed Zayed¹²³⁴⁵,MacDonald David B.¹²³⁴⁵,Stigsby Bent¹²³⁴⁵,Plaitakis Andreas¹²³⁴⁵,Dretakis Emmanuel K.¹²³⁴⁵,Gottlob Irene¹²³⁴⁵,Pieh Christina¹²³⁴⁵,Traboulsi Elias I.¹²³⁴⁵,Wang Qing¹²³⁴⁵,Wang Lejin¹²³⁴⁵,Andrews Caroline¹²³⁴⁵,Yamada Koki¹²³⁴⁵,Demer Joseph L.¹²³⁴⁵,Karim Shaheen¹²³⁴⁵,Alger Jeffry R.¹²³⁴⁵,Geschwind Daniel H.¹²³⁴⁵,Deller Thomas¹²³⁴⁵,Sicotte Nancy L.¹²³⁴⁵,Nelson Stanley F.¹²³⁴⁵,Baloh Robert W.¹²³⁴⁵,Engle Elizabeth C.¹²³⁴⁵

Affiliation:

1. Department of Neurology, University of California, Los Angeles, CA 90095, USA.

2. Department of Radiology, University of California, Los Angeles, CA 90095, USA.

3. Interdepartmental Program in Neurosciences, University of California, Los Angeles, CA 90095, USA.

4. Department of Ophthalmology, University of California, Los Angeles, CA 90095, USA.

5. Department of Human Genetics, University of California, Los Angeles, CA 90095, USA.

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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference30 articles.

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2. Roundabout Controls Axon Crossing of the CNS Midline and Defines a Novel Subfamily of Evolutionarily Conserved Guidance Receptors

3. Slit Proteins Bind Robo Receptors and Have an Evolutionarily Conserved Role in Repulsive Axon Guidance

4. astray , a Zebrafish roundabout Homolog Required for Retinal Axon Guidance

5. Selecting a Longitudinal Pathway

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