Increased LIS1 expression affects human and mouse brain development (original) (raw)

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Acknowledgements

We thank the participating families for their cooperation in the study, the members of the Chromosomal Microarray Analysis and Cytogenetic/FISH laboratories for technical assistance, G. Eichele for help with the in situ hybridization experiments, E. Arama and S. Haiderleu for useful comments and advice, S. McConnell for the Foxg1(Cre) mice and M. O'Gorman (Children's Memorial Hospital, Chicago) for assistance with specimen collection. The work was supported in part by the Israeli Science Foundation (grant no. 270/04 to O.R. and an equipment grant), the Foundation Jérôme Lejeune, the Minerva Foundation with funding from the Federal German Ministry for Education and Research, German-Israeli collaboration grant Gr-1905, March of Dimes grant 6-FY07-388, collaborative BSF grant 2007081 (to O.R. and J.R.L.), a grant from the Paul Godfrey Research Foundation in Children's Diseases, the Benoziyo Center for Neurological Diseases, the Kekst Center, the Forcheimer Center, a Weizmann-Pasteur collaborative grant, a research grant from the Michigan Women of Wisdom Fund to support Weizmann Women scientists, support from Maurice Janin, the Jewish Communal Fund, Albert Einstein College of Medicine of Yeshiva University, the David and Fela Shapell Family Center research grant for Genetic Disorders Research, grants DIGESIC-MEC BFU2005-09085 and Ingenio 2010 MEC-CONSOLIDER CSD2007-00023 (to S.M.), support from EU grant LSHG-CT-2004-512003, the Baylor Medical Genetics Laboratories, the Mental Retardation Developmental Disabilities Research Center (HD024064) and a Program Project grant (P01 HD39420) from the National Institute of Child Health and Human Development (to J.R.L.). O.R. is an Incumbent of the Bernstein-Mason professorial chair of Neurochemistry.

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Author notes

1. Weimin Bi, Tamar Sapir and Oleg A Shchelochkov: These authors contributed equally to this work.

Authors and Affiliations

1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 77030, Texas, USA
   Weimin Bi, Oleg A Shchelochkov, Feng Zhang, Marjorie A Withers, Xin-Yan Lu, Trilochan Sahoo, Arthur L Beaudet, Sau Wai Cheung & James R Lupski
2. Medical Genetics Laboratories, Baylor College of Medicine, Houston, 77030, Texas, USA
   Weimin Bi, Xin-Yan Lu, Trilochan Sahoo, Sau Wai Cheung & James R Lupski
3. Department of Molecular Genetics, The Weizmann Institute of Science, 76100, Rehovot, Israel
   Tamar Sapir, Talia Levy & Orly Reiner
4. Texas Children's Hospital, Houston, 77030, Texas, USA
   Oleg A Shchelochkov, Jill V Hunter, Arthur L Beaudet & James R Lupski
5. Department of Chemical Research Support, The Weizmann Institute of Science, 76100, Rehovot, Israel
   Vera Shinder
6. Illumina, Inc., San Diego, 92024, California, USA
   Daniel A Peiffer & Kevin L Gunderson
7. North York General Hospital, Toronto, M2K1E1, Ontario, Canada
   Marjan M Nezarati
8. Arkansas Children's Hospital, Little Rock, 72202, Arkansas, USA
   Vern Ann Shotts
9. Eastern Maine Medical Center, Bangor, 04401, Maine, USA
   Stephen S Amato & Sarah K Savage
10. Children's Hospital, Boston, 02115, Massachusetts, USA
    David J Harris
11. Institute for Genetic Medicine, Saint Peters University Hospital, New Brunswick, 08901, New Jersey, USA
    Debra-Lynn Day-Salvatore & Michele Horner
12. Department of Genetic and Behavioral Neuroscience, Gunma University Graduate School of Medicine, 371-8511, Maebashi, Japan
    Yuchio Yanagawa
13. Department of Pediatrics, Baylor College of Medicine, Houston, 77030, Texas, USA
    Arthur L Beaudet & James R Lupski
14. Instituto de Neurociencias, UMH-CSIC, San Juan de Alicante, 03550, Alicante, Spain
    Salvador Martinez

Authors

1. Weimin Bi
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2. Tamar Sapir
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3. Oleg A Shchelochkov
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4. Feng Zhang
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5. Marjorie A Withers
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6. Jill V Hunter
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7. Talia Levy
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8. Vera Shinder
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9. Daniel A Peiffer
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10. Kevin L Gunderson
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11. Marjan M Nezarati
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12. Vern Ann Shotts
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13. Stephen S Amato
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14. Sarah K Savage
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15. David J Harris
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16. Debra-Lynn Day-Salvatore
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17. Michele Horner
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18. Xin-Yan Lu
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19. Trilochan Sahoo
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20. Yuchio Yanagawa
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21. Arthur L Beaudet
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22. Sau Wai Cheung
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23. Salvador Martinez
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24. James R Lupski
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25. Orly Reiner
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Contributions

W.B. coordinated human studies and conducted real time RT-PCR assays. T.S. produced transgenic mice and conducted mouse studies. O.A.S. recruited patients and reviewed clinical data. F.Z. conducted high-density array CGH and breakpoint analyses. M.A.W. carried out cell culture. J.V.H. reviewed the MRI data. T.L., V.S. and S.M. assisted in mouse analyses. Y.Y. provided GAD67-GFP mice. D.A.P. and K.L.G. conducted SNP genotyping. M.M.N., V.A.S., S.S.A., S.K.S., D.J.H., D.-L.D.-S., M.H. and A.L.B. recruited and clinically characterized patients. S.W.C., X.-Y.L. and T.S. were involved in cytogenetic and clinical array CGH studies. J.R.L. and O.R. were involved in research design and data analyses. W.B., T.S., O.A.S., O.R. and J.R.L. prepared the manuscript.

Corresponding authors

Correspondence toJames R Lupski or Orly Reiner.

Supplementary information

Supplementary Text and Figures

Supplementary Note, Supplementary Methods, Supplementary Table 1 and Supplementary Figures 1–5 (PDF 760 kb)

Supplementary Movie 1

Organotypic slice cultures prepared from brains of E13.5 control mice carrying a silent transgene (Cre negative). (MOV 1461 kb)

Supplementary Movie 2

Organotypic slice cultures prepared from brains of E13.5 LIS1 overexpressing embryos (LIS1::Foxg1(cre)). (MOV 1627 kb)

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Bi, W., Sapir, T., Shchelochkov, O. et al. Increased LIS1 expression affects human and mouse brain development.Nat Genet 41, 168–177 (2009). https://doi.org/10.1038/ng.302

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• Received: 09 June 2008
• Accepted: 17 October 2008
• Published: 11 January 2009
• Issue Date: February 2009
• DOI: https://doi.org/10.1038/ng.302