Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair (original) (raw)

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NCBI Reference Sequence

References

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Acknowledgements

We are indebted to the affected individuals and families who participated in the study, the physicians who referred the subjects, A. Fire (Stanford University School of Medicine, Stanford, California) and J.D. McGhee (University of Calgary, Calgary, Canada) for plasmids, and C. Ramoni, S. Venanzi and T. Squatriti (Istituto Superiore di Sanità, Rome, Italy) and the Open Laboratory (IGB-CNR, Naples, Italy) for experimental support. Some nematode strains used in this work were provided by the Caenorhabditis Genetics Center (University of Minnesota, Minneapolis, Minnesota), funded by the US National Institutes of Health (NIH) National Center for Research Resources. We also thank M.C. Silengo (Università di Torino, Turin, Italy), S. Spranger (Praxis fuer Humangenetik, Bremen, Germany), I.M. Gaspar (Egas Moniz Hospital, Lisbon, Portugal) and D.R. Bertola (HC/FMUSP, Saão Paulo, Brazil) for their contribution in DNA sampling and valuable clinical assistance. This research was funded by grants from Telethon-Italy (GGP07115) and 'Convenzione Italia-USA-malattie rare' to M.T., the NIH (HL71207, HD01294 and HL074728) to B.D.G., SBCNY (P50GM071558) to A.M. and R.I. the German Research Foundation (DFG) (ZE 524/4-1) to M.Z. and IRCCS-CSS (Ricerca Corrente 2009) to F.L.

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Author notes

1. Bruce D Gelb and Marco Tartaglia: These authors contributed equally to this work.

Authors and Affiliations

1. Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy
   Viviana Cordeddu, Valentina Fodale, Simone Martinelli, Elisabetta Flex & Marco Tartaglia
2. Istituto di Genetica e Biofisica 'A. Buzzati Traverso', Consiglio Nazionale delle Ricerche, Naples, Italy
   Elia Di Schiavi & Paolo Bazzicalupo
3. Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California, USA
   Len A Pennacchio
4. US Department of Energy Joint Genome Institute, Walnut Creek, California, USA
   Len A Pennacchio, Joel Martin, Wendy Schackwitz & Anna Lipzen
5. Department of Pharmacology and Systems Therapeutics, Systems Biology Center New York (SBCNY), Mount Sinai School of Medicine, New York, New York, USA
   Avi Ma'ayan & Ravi Iyengar
6. Istituto di Ricovero e Cura a Carattere Scientifico-Casa Sollievo della Sofferenza, San Giovanni Rotondo and Istituto Mendel, Rome, Italy
   Anna Sarkozy, Francesca Lepri & Bruno Dallapiccola
7. Department of Experimental Medicine, University 'La Sapienza', Rome, Italy
   Valentina Fodale & Bruno Dallapiccola
8. Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanità, Rome, Italy
   Serena Cecchetti & Daniela Merlo
9. IRCCS-San Raffaele Pisana, Rome, Italy
   Alessio Cardinale & Daniela Merlo
10. Istituto di Clinica Pediatrica, Università Cattolica del Sacro Cuore, Rome, Italy
    Giuseppe Zampino
11. Dipartimento di Pediatria, Università degli Studi di Bologna, Bologna, Italy
    Laura Mazzanti
12. Sezione di Genetica Medica, Ospedale Bambino Gesù, Rome, Italy
    Maria C Digilio
13. Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
    Deborah Bartholdi
14. Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany
    Kerstin Kutsche
15. Dipartimento di Pediatria, Università di Torino, Turin, Italy
    Giovanni B Ferrero
16. Dipartimento di Pediatria, Ostetricia e Medicina della Riproduzione, Università di Siena, Siena, Italy
    Cecilia Anichini
17. Clinica Pediatrica I, IRCCS Fondazione Policlinico Milano, Milan, Italy
    Angelo Selicorni
18. Unità Operativa di Genetica Medica, Policlinico S. Orsola-Malpighi, Bologna, Italy
    Cesare Rossi
19. Dipartimento di Pediatria, Università di Padova, Padua, Italy
    Romano Tenconi
20. Institute of Human Genetics, University Hospital Erlangen, University of Erlangen-Nuremberg, Erlangen, Germany
    Martin Zenker
21. Center for Molecular Cardiology and Departments of Pediatrics and Genetics & Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA
    Bruce D Gelb

Authors

1. Viviana Cordeddu
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2. Elia Di Schiavi
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3. Len A Pennacchio
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4. Avi Ma'ayan
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5. Anna Sarkozy
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6. Valentina Fodale
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7. Serena Cecchetti
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8. Alessio Cardinale
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9. Joel Martin
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10. Wendy Schackwitz
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11. Anna Lipzen
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12. Giuseppe Zampino
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13. Laura Mazzanti
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14. Maria C Digilio
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15. Simone Martinelli
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16. Elisabetta Flex
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17. Francesca Lepri
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18. Deborah Bartholdi
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19. Kerstin Kutsche
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20. Giovanni B Ferrero
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21. Cecilia Anichini
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22. Angelo Selicorni
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23. Cesare Rossi
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24. Romano Tenconi
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25. Martin Zenker
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26. Daniela Merlo
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27. Bruno Dallapiccola
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28. Ravi Iyengar
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29. Paolo Bazzicalupo
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30. Bruce D Gelb
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31. Marco Tartaglia
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Contributions

V.C. and V.F. were responsible for mutation analysis and biochemistry, E.D.S., S.M. and P.B. were responsible for the generation and phenotypic characterization of transgenic C. elegans strains, L.A.P., J.M., W.S. and A.L. performed high-throughput resequencing, A.S., F.L. and C.R. did mutation analysis, A.M. and R.I. did protein network analysis, S.C. did the confocal laser scanning microscopy, A.C., E.F. and D.M. were responsible for functional studies, G.Z., L.M., M.C.D., D.B., K.K., C.A., A.S., G.B.F., R.T., M.Z. and B.D. obtained DNA specimens from patients and did clinical evaluation, and B.D.G. and M.T. were responsible for the project planning, data analysis and preparation of manuscript.

Corresponding authors

Correspondence toBruce D Gelb or Marco Tartaglia.

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Cordeddu, V., Di Schiavi, E., Pennacchio, L. et al. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.Nat Genet 41, 1022–1026 (2009). https://doi.org/10.1038/ng.425

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• Received: 01 April 2009
• Accepted: 22 June 2009
• Published: 16 August 2009
• Issue Date: September 2009
• DOI: https://doi.org/10.1038/ng.425