PUBLICATION

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

Authors
Jen, J.C., Chan, W.M., Bosley, T.M., Wan, J., Carr, J.R., Rub, U., Shattuck, D., Salamon, G., Kudo, L.C., Ou, J., Lin, D.D., Salih, M.A., Kansu, T., Al Dhalaan, H., Al Zayed, Z., MacDonald, D.B., Stigsby, B., Plaitakis, A., Dretakis, E.K., Gottlob, I., Pieh, C., Traboulsi, E.I., Wang, Q., Wang, L., Andrews, C., Yamada, K., Demer, J.L., Karim, S.S., Alger, J.R., Geschwind, D.H., Deller, T., Sicotte, N.L., Nelson, S.F., Baloh, R.W., and Engle, E.C.
ID
ZDB-PUB-040427-6
Date
2004
Source
Science (New York, N.Y.)   304(5676): 1509-1513 (Journal)
Registered Authors
Keywords
none
MeSH Terms
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Adult
  • Neural Pathways
  • Receptors, Immunologic/chemistry
  • Receptors, Immunologic/genetics*
  • Receptors, Immunologic/metabolism*
  • Evoked Potentials, Motor
  • Functional Laterality
  • In Situ Hybridization
  • Magnetic Resonance Imaging
  • Medulla Oblongata/growth & development
  • Medulla Oblongata/pathology
  • Axons/physiology*
  • Syndrome
  • Protein Structure, Tertiary
  • Mutation
  • Ophthalmoplegia/genetics*
  • Ophthalmoplegia/pathology
  • Ophthalmoplegia/physiopathology
  • Scoliosis/genetics*
  • Scoliosis/pathology
  • Scoliosis/physiopathology
  • Evoked Potentials, Somatosensory
  • Molecular Sequence Data
  • Alternative Splicing
  • Rhombencephalon/growth & development*
  • Rhombencephalon/pathology
  • Pedigree
  • Morphogenesis
  • Humans
  • Amino Acid Sequence
  • Female
  • Male
  • Microsatellite Repeats
  • Amino Acid Motifs
  • Genetic Linkage
(all 37)
PubMed
15105459 Full text @ Science
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.
Genes / Markers
Figures
No images available
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping
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Citation
Jen, J.C., Chan, W.M., Bosley, T.M., Wan, J., Carr, J.R., Rub, U., Shattuck, D., Salamon, G., Kudo, L.C., Ou, J., Lin, D.D., Salih, M.A., Kansu, T., Al Dhalaan, H., Al Zayed, Z., MacDonald, D.B., Stigsby, B., Plaitakis, A., Dretakis, E.K., Gottlob, I., Pieh, C., Traboulsi, E.I., Wang, Q., Wang, L., Andrews, C., Yamada, K., Demer, J.L., Karim, S.S., Alger, J.R., Geschwind, D.H., Deller, T., Sicotte, N.L., Nelson, S.F., Baloh, R.W., and Engle, E.C. (2004) Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis. Science (New York, N.Y.). 304(5676):1509-1513.