Germline gain-of-function mutations in SOS1 cause Noonan syndrome

Nature Genetics

Volumn 39, Issue 1, 2007, Pages 70-74

  Roberts, Amy E ^a,b   Araki, Toshiyuki ^a   Swanson, Kenneth D ^a   Montgomery, Kate T ^a   Schiripo, Taryn A ^a   Joshi, Victoria A ^a,c   Li, Li ^a   Yassin, Yosuf ^a   Tamburino, Alex M ^a   Neel, Benjamin G ^a   Kucherlapati, Raju S ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE EXCHANGE FACTOR; MUTANT PROTEIN; PROTEIN DERIVATIVE; PTPN11 PROTEIN; SOS PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; FEMALE; GENE ACTIVATION; GENE CONTROL; GENE MUTATION; HUMAN; INFANT; MALE; MISSENSE MUTATION; NOONAN SYNDROME; PREVALENCE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; GERM-LINE MUTATION; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MODELS, BIOLOGICAL; MODELS, MOLECULAR; NOONAN SYNDROME; PROTEIN-TYROSINE-PHOSPHATASE; SOS1 PROTEIN;

EID: 33845900943     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1926     Document Type: Article

References (23)

1. Tartaglia, M. & Gelb, B.D. Noonan syndrome and related disorders: genetics and pathogenesis. Annu. Rev. Genomics Hum. Genet. 6, 45-68 (2005).
2. Neel, B.G., Gu, H. & Pao, L. The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling. Trends Biochem. Sci. 28, 284-293 (2003).
3. Fragale, A., Tartaglia, M., Wu, J. & Gelb, B.D. Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. Hum. Mutat. 23, 267-277 (2004).
4. Kontaridis, M.I., Swanson, K.D., David, F.S., Barford, D. & Neel, B.G. PTPN11 (SHP2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. J. Biol. Chem. 281, 6785-6792 (2005).
5. Araki, T. et al. Mouse model of Noonan syndrome reveals cell type- and gene-dosage dependent effects of Ptpn11 mutation. Nat. Med. 10, 849-857 (2004).
6. Schubbert, S. et al. Germline KRAS mutations cause Noonan syndrome. Nat. Genet. 38, 331-336 (2006).
7. Bentires-Alj, M., Kontaridis, M.I. & Neel, B.G. Stops on the Ras pathway in human genetic disease. Nat. Med. 12, 283-285 (2006).
8. Niihori, T. et al. Germline KRAS and BRAF mutations in cardio-facio-cutaneous (CFC) syndrome. Nat. Genet. 38, 294-296 (2006).
9. Rodriguez-Viciana, P. et al. Germline mutation of genes with the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 311, 1287-1290 (2006).
10. Sondermann, H., Soisson, S.M., Bar-Sagi, D. & Kuriyan, J. Tandem histone folds in the structure of the N-terminal segment of the Ras activator Son of Sevenless. Structure 11, 1583-1593 (2003).
11. Sondermann, H., Nagar, B., Bar-Sagi, D. & Kuriyan, J. Computational docking and solution x-ray scattering predict a membrane-interacting role for the histone domain of the Ras activator Son of Sevenless. Proc. Natl. Acad. Sci. USA 102, 16632-16637 (2005).
12. Nimnual, A. & Bar-Sagi, D. The two hats of SOS. Sci. STKE 2002, PE36 (2002).
13. Soisson, S.M., Nimnual, A.S., Uy, M., Bar-Sagi, D. & Kuriyan, J. Crystal structure of the Dbl and pleckstrin homology domains from the human Son of Sevenless protein. Cell 95, 259-268 (1998).
14. Margarit, S.M. et al. Structural evidence for feedback activation by Ras.GTP of the Ras-specific nucleotide exchange factor SOS. Cell 112, 685-695 (2003).
15. Sondermann, H. et al. Structural analysis of autoinhibition in the Ras activator Son of Sevenless. Cell 119, 393-405 (2004).
16. Keilhack, H., David, F.S., McGregor, M., Cantley, L.C. & Neel, B.G. Diverse biochemical properties of Shp2 mutants: implications for disease phenotypes. J. Biol. Chem. 280, 30984-30993 (2005).
17. Goi, T., Rusanescu, G., Urano, T. & Feig, L. Ral-specific guanine nucleotide exchange factor activity opposes other Ras effectors in PC12 cells by inhibiting neurite outgrowth. Mol. Cell. Biol. 19, 1731-1741 (1999).
18. Hart, T.C. et al. A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. Am. J. Hum. Genet. 70, 943-954 (2002).
19. Bos, J.L. Ras oncogenes in human cancer: A review. Cancer Res. 49, 4682-4689 (1989).
20. Cichowski, K. et al. Mouse models of tumor development in neurofibromatosis Type 1. Science 286, 2172-2176 (1999).
21. Lauchle, J.O., Braun, B.S., Loh, M.L. & Shannon, K. Inherited predispositions and hyperactive Ras in myeloid leukemogenesis. Pediatr. Blood Cancer 46, 579-585 (2006).
22. van der Burgt, I. et al. Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am. J. Med. Genet. 53, 187-191 (1994).
23. Godbey, W.T., Wu, K.K., Hirasaki, G.J. & Mikos, A.G. Improved packing of poly(ethylenimine)/ DNA complexes increases transfection efficiency. Gene Ther. 6, 1380-1388 (1999).