Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin (original) (raw)

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Acknowledgements

We thank the affected individuals and their families for participation; R.H. Lyons for large-scale sequencing; M. Petry for technical assistance; and G. Feldhoff, T. Bonzel, H.P. Krohn, C.R. Lincke, H. Ruder, M.J. Schuermann, S. Briese, W. Wuyts, A. Raes, Y. Pirson and C. Dahan for contribution of materials and clinical data from affected individuals. This research was supported by grants from US National Institutes of Health to F.H., to A.S. and to D.S.W.; by grants to A.S. from the Foundation Fighting Blindness and Research to Prevent Blindness; and by grants from the German Research Foundation to H.O. F.H. is a Frederick G.L. Huetwell Professor. A.S. is Harold F. Falls Collegiate Professor and recipient of RPB Senior Scientific Investigator Award. B.M. is an investigator of the Howard Hughes Medical Institute. J. Hellemans is funded by the Institute for the Promotion of Innovation by Science and Technology in Flanders. A.K. is supported by grants from the German Research Foundation.

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Authors and Affiliations

1. Department of Pediatrics, University of Michigan, Ann Arbor, 48109, Michigan, USA
   Edgar A Otto, Ulla Muerb, John F O'Toole, Juliana Helou, Massimo Attanasio, Boris Utsch, John A Sayer & Friedhelm Hildebrandt
2. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University, Baltimore, 21205, Maryland, USA
   Bart Loeys
3. Department of Ophthalmology, University of Michigan, Ann Arbor, 48109, Michigan, USA
   Hemant Khanna, Shirley He & Anand Swaroop
4. Center for Medical Genetics, Ghent University Hospital, Ghent, 9000, Belgium
   Jan Hellemans, Paul Coucke & Anne De Paepe
5. Max Planck Institute for Molecular Genetics, Berlin, Germany
   Ralf Sudbrak, Richard Reinhardt & Sven Klages
6. Institute for Clinical Molecular Biology, Christian Albrechts University, Kiel, 24105, Germany
   Ralf Sudbrak
7. Howard Hughes Medical Institute and Department of Internal Medicine, University of Michigan, Ann Arbor, 48109, Michigan, USA
   Shuling Fan & Benjamin Margolis
8. Departments of Pharmacology and Neurosciences, School of Medicine, University of California at San Diego, La Jolla, 92093-0912, California, USA
   Concepcion Lillo, David Jimeno & David S Williams
9. Department of Life Science, Graduate School of Life Science, University of Hyogo, Hyogo, 678-1297, Japan
   Motoyuki Tsuda, Isao Kawakami & Takehiro Kusakabe
10. University Children's Hospital Freiburg, Freiburg, Germany
    Heymut Omran & Anita Imm
11. Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, 48109, Michigan, USA
    Melissa Tippens & Pamela A Raymond
12. Molecular Medicine Unit, Institute of Child Health, University College London, London, UK
    Jo Hill & Phil Beales
13. Institute for Molecular Biology, Medizinische Hochschule Hannover, Hannover, 30625, Germany
    Andreas Kispert
14. Department of Human Genetics, University of Michigan, Ann Arbor, 48109, Michigan, USA
    Anand Swaroop & Friedhelm Hildebrandt

Authors

1. Edgar A Otto
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2. Bart Loeys
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3. Hemant Khanna
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4. Jan Hellemans
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5. Ralf Sudbrak
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6. Shuling Fan
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7. Ulla Muerb
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8. John F O'Toole
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9. Juliana Helou
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10. Massimo Attanasio
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11. Boris Utsch
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12. John A Sayer
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13. Concepcion Lillo
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14. David Jimeno
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15. Paul Coucke
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16. Anne De Paepe
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17. Richard Reinhardt
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18. Sven Klages
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19. Motoyuki Tsuda
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20. Isao Kawakami
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21. Takehiro Kusakabe
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22. Heymut Omran
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23. Anita Imm
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24. Melissa Tippens
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25. Pamela A Raymond
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26. Jo Hill
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27. Phil Beales
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28. Shirley He
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29. Andreas Kispert
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30. Benjamin Margolis
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31. David S Williams
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32. Anand Swaroop
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33. Friedhelm Hildebrandt
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Corresponding author

Correspondence toFriedhelm Hildebrandt.

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Supplementary information

Supplementary Fig. 1

Northern blot analysis of NPHP5. (PDF 298 kb)

Supplementary Fig. 2

Whole-mount in situ hybridization analysis of Nphp5 expression during embryonic development of mouse and C. intestinalis, respectively. (PDF 188 kb)

Supplementary Fig. 3

Amino acid sequence alignment for nephrocystin-5 (NPHP5) orthologs of mouse, rat, human, zebrafish, and C. intestinalis. (PDF 191 kb)

Supplementary Fig. 4

Characterization of anti-NPHP5 antibody by immunoblot analysis. (PDF 178 kb)

Supplementary Fig. 5

Characterization of the anti-ORG15CP antibody. (PDF 228 kb)

Supplementary Table 1

Exon-flanking primers used for PCR in the human NPHP5 gene. (PDF 159 kb)

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Otto, E., Loeys, B., Khanna, H. et al. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.Nat Genet 37, 282–288 (2005). https://doi.org/10.1038/ng1520

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• Received: 04 October 2004
• Accepted: 14 January 2005
• Published: 20 February 2005
• Issue Date: 01 March 2005
• DOI: https://doi.org/10.1038/ng1520