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

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 GottlobChristina 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

Research output: Contribution to journal › Article › peer-review

335 Scopus citations

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 scollosis (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.

Original language	English
Pages (from-to)	1509-1513
Number of pages	5
Journal	Science
Volume	304
Issue number	5676
DOIs	https://doi.org/10.1126/science.1096437
State	Published - 4 Jun 2004
Externally published	Yes

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Jen, J. C., Chan, W. M., Bosley, T. M., Wan, J., Carr, J. R., Rüb, U., Shattuck, D., Salamon, G., Kudo, L. C., Ou, J., Lin, D. D. M., Salih, M. A. M., Kansu, T., Al Dhalaan, H., Al Zayed, Z., MacDonald, D. B., Stigsby, B., Plaitakis, A., Dretakis, E. K., ... Engle, E. C. (2004). Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science, 304(5676), 1509-1513. https://doi.org/10.1126/science.1096437

@article{1fffa0d694644e35aeea005d8eb58c19,

title = "Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis",

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 scollosis (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.",

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

year = "2004",

month = jun,

day = "4",

doi = "10.1126/science.1096437",

language = "English",

volume = "304",

pages = "1509--1513",

journal = "Science",

issn = "0036-8075",

publisher = "American Association for the Advancement of Science",

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Jen, JC, Chan, WM, Bosley, TM, Wan, J, Carr, JR, Rüb, U, Shattuck, D, Salamon, G, Kudo, LC, Ou, J, Lin, DDM, Salih, MAM, Kansu, T, Al Dhalaan, H, Al Zayed, Z, MacDonald, DB, Stigsby, B, Plaitakis, A, Dretakis, EK, Gottlob, I, Pieh, C, Traboulsi, EI, Wang, Q, Wang, L, Andrews, C, Yamada, K, Demer, JL, Karim, S, Alger, JR, Geschwind, DH, Deller, T, Sicotte, NL, Nelson, SF, Baloh, RW & Engle, EC 2004, 'Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis', Science, vol. 304, no. 5676, pp. 1509-1513. https://doi.org/10.1126/science.1096437

TY - JOUR

T1 - Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis

AU - Jen, Joanna C.

AU - Chan, Wai Man

AU - Bosley, Thomas M.

AU - Wan, Jijun

AU - Carr, Janai R.

AU - Rüb, Udo

AU - Shattuck, David

AU - Salamon, Georges

AU - Kudo, Lili C.

AU - Ou, Jing

AU - Lin, Doris D.M.

AU - Salih, Mustafa A.M.

AU - Kansu, Tülay

AU - Al Dhalaan, Hesham

AU - Al Zayed, Zayed

AU - MacDonald, David B.

AU - Stigsby, Bent

AU - Plaitakis, Andreas

AU - Dretakis, Emmanuel K.

AU - Gottlob, Irene

AU - Pieh, Christina

AU - Traboulsi, Elias I.

AU - Wang, Qing

AU - Wang, Lejin

AU - Andrews, Caroline

AU - Yamada, Koki

AU - Demer, Joseph L.

AU - Karim, Shaheen

AU - Alger, Jeffry R.

AU - Geschwind, Daniel H.

AU - Deller, Thomas

AU - Sicotte, Nancy L.

AU - Nelson, Stanley F.

AU - Baloh, Robert W.

AU - Engle, Elizabeth C.

PY - 2004/6/4

Y1 - 2004/6/4

N2 - 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 scollosis (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.

AB - 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 scollosis (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.

UR - http://www.scopus.com/inward/record.url?scp=2642584008&partnerID=8YFLogxK

U2 - 10.1126/science.1096437

DO - 10.1126/science.1096437

M3 - Article

C2 - 15105459

AN - SCOPUS:2642584008

SN - 0036-8075

VL - 304

SP - 1509

EP - 1513

JO - Science

JF - Science

IS - 5676

ER -

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

Abstract

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