Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Human Mutation

Volumn 36, Issue 11, 2015, Pages 1080-1087

  Cordeddu, Viviana ^a,b   Yin, Jiani C ^c   Gunnarsson, Cecilia ^d   Virtanen, Carl ^c   Drunat, Séverine ^e   Lepri, Francesca ^f   De Luca, Alessandro ^g   Rossi, Cesare ^h   Ciolfi, Andrea ^a   Pugh, Trevor J ^c   Bruselles, Alessandro ^a   Priest, James R ⁱ   Pennacchio, Len A ^j,k   Lu, Zhibin ^c   Danesh, Arnavaz ^c   Quevedo, Rene ^c   Hamid, Alaa ^c   Martinelli, Simone ^a   Pantaleoni, Francesca ^a   Gnazzo, Maria ^f   Daniele, Paola ^g   Lissewski, Christina ^l   Bocchinfuso, Gianfranco ^m   Stella, Lorenzo ^m   Odent, Sylvie ⁿ   Philip, Nicole ^o   Faivre, Laurence ^p   Vlckova, Marketa ^q   Seemanova, Eva ^q   Digilio, Cristina ^f   Zenker, Martin ^l   Zampino, Giuseppe ^r   Verloes, Alain ^e   Dallapiccola, Bruno ^f   Roberts, Amy E ^s   Cavé, Hélène ^e,t   Gelb, Bruce D ^u   Neel, Benjamin G ^c,v   Tartaglia, Marco ^a,f   more..

^a ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^b UNIVERSITY OF CHIETI   (Italy)

^c PRINCESS MARGARET HOSPITAL   (Canada)

^d LINKÖPING UNIVERSITY   (Sweden)

^e HÔPITAL ROBERT DEBRÉ   (France)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^h UNIVERSITY OF BOLOGNA   (Italy)

ⁱ STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

^k DOE JOINT GENOME INSTITUTE   (United States)

^l UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^m UNIVERSITY OF ROME TOR VERGATA   (Italy)

ⁿ SERVICE DE RHUMATOLOGIE   (France)

^o TIMONE HOSPITAL   (France)

^p Medical University of Dijon   (France)

^q UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^r CATHOLIC UNIVERSITY   (Italy)

^s BOSTON CHILDREN S HOSPITAL   (United States)

^t INSERM   (France)

^u MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^v NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

Genotype phenotype correlations; Noonan syndrome; RAS signaling; SOS2

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; MITOGEN ACTIVATED PROTEIN KINASE KINASE KINASE; RAS PROTEIN; SON OF SEVENLESS DROSOPHILA HOMOLOG 2; SOS PROTEIN; UNCLASSIFIED DRUG; SOS2 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; BINDING SITE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL STUDY; CONFORMATION; DNA SEQUENCE; ENZYME ACTIVATION; FACIES; FEMALE; GENOME ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR INTERACTION; MOLECULAR MODEL; MOLECULAR PATHOLOGY; NOONAN SYNDROME; PHENOTYPE; POSTNATAL GROWTH; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; SIGNAL TRANSDUCTION; YOUNG ADULT; ALLELE; AMINO ACID SUBSTITUTION; CHEMISTRY; DNA MUTATIONAL ANALYSIS; EXOME; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; MUTATION; PROTEIN CONFORMATION;

ADOLESCENT; ADULT; ALLELES; AMINO ACID SUBSTITUTION; CHILD; DNA MUTATIONAL ANALYSIS; EXOME; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MALE; MODELS, MOLECULAR; MUTATION; NOONAN SYNDROME; PHENOTYPE; PROTEIN CONFORMATION; PROTEIN INTERACTION DOMAINS AND MOTIFS; SON OF SEVENLESS PROTEINS; YOUNG ADULT;

EID: 84944179450     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22834     Document Type: Article

References (32)

1. Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, et al. 2013. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet 93:173-180.
2. Arnold K, Bordoli L, Kopp J, Schwede T. 2006. The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling. Bioinformatics 22:195-201.
3. Bamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, Boerwinkle E, Lifton RP, Gerstein M, Gunel M, Mane S, Nickerson DA, et al. 2012. The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A 158A:1523-1525.
4. Chen PC, Yin J, Yu HW, Yuan T, Fernandez M, Yung CK, Trinh QM, Peltekova VD, Reid JG, Tworog-Dube E, Morgan MB, Muzny DM, et al. 2014. Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci USA 111:11473-11478.
5. Cingolani P, Platts A, Wang le L, Coon M, Nguyen T, Wang L, Land SJ, Lu X, Ruden DM. 2012. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin) 6:80-92.
6. Denayer E, Devriendt K, de Ravel T, Van Buggenhout G, Smeets E, Francois I, Sznajer Y, Craen M, Leventopoulos G, Mutesa L, Vandecasseye W, Massa G, et al. 2010. Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. Genes Chromosomes Cancer 49:242-252.
7. DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, et al. 2011. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491-498.
8. Esteban LM, Fernandez-Medarde A, Lopez E, Yienger K, Guerrero C, Ward JM, Tessarollo L, Santos E. 2000. Ras-guanine nucleotide exchange factor sos2 is dispensable for mouse growth and development. Mol Cell Biol 20:6410-6413.
9. Flex E, Jaiswal M, Pantaleoni F, Martinelli S, Strullu M, Fansa EK, Caye A, De Luca A, Lepri F, Dvorsky R, Pannone L, Paolacci S, et al. 2014. Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. Hum Mol Genet 23:4315-4327.
10. Gureasko J, Kuchment O, Makino DL, Sondermann H, Bar-Sagi D, Kuriyan J. 2010. Role of the histone domain in the autoinhibition and activation of the Ras activator Son of Sevenless. Proc Natl Acad Sci USA 107:3430-3435.
11. Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. 2014. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46:310-315.
12. Larkin MA, Blackshields G, Brown NP, Chenna R, McGettigan PA, McWilliam H, Valentin F, Wallace IM, Wilm A, Lopez R, Thompson JD, Gibson TJ, et al. 2007. Clustal W and Clustal X version 2.0. Bioinformatics 23:2947-2948.
13. Lee YS, Ehninger D, Zhou M, Oh JY, Kang M, Kwak C, Ryu HH, Butz D, Araki T, Cai Y, Balaji J, Sano Y, et al. 2014. Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome. Nat Neurosci 17:1736-1743.
14. Lepri F, De Luca A, Stella L, Rossi C, Baldassarre G, Pantaleoni F, Cordeddu V, Williams BJ, Dentici ML, Caputo V, Venanzi S, Bonaguro M, et al. 2011. SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. Hum Mutat 32:760-772.
15. Li H, Durbin R. 2009. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25:1754-1760.
16. Margarit SM, Sondermann H, Hall BE, Nagar B, Hoelz A, Pirruccello M, Bar-Sagi D, Kuriyan J. 2003. Structural evidence for feedback activation by Ras.GTP of the Ras-specific nucleotide exchange factor SOS. Cell 112:685-695.
17. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA. 2010. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20:1297-1303.
18. Nielsen KH, Papageorge AG, Vass WC, Willumsen BM, Lowy DR. 1997. The Ras-specific exchange factors mouse Sos1 (mSos1) and mSos2 are regulated differently: mSos2 contains ubiquitination signals absent in mSos1. Mol Cell Biol 17:7132-7138.
19. Nimnual A, Bar-Sagi D. 2002. The two hats of SOS. Sci STKE 2002 :PE36.
20. Pagani MR, Oishi K, Gelb BD, Zhong Y. 2009. The phosphatase SHP2 regulates the spacing effect for long-term memory induction. Cell 139:186-198.
21. Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, et al. 2007. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 39:1007-1012.
22. Pettersen EF, Goddard TD, Huang CC, Couch GS, Greenblatt DM, Meng EC, Ferrin TE. 2004. UCSF Chimera-a visualization system for exploratory research and analysis. J Comput Chem 25:1605-1612.
23. Qian X, Esteban L, Vass WC, Upadhyaya C, Papageorge AG, Yienger K, Ward JM, Lowy DR, Santos E. 2000. The Sos1 and Sos2 Ras-specific exchange factors: differences in placental expression and signaling properties. EMBO J 19:642-654.
24. Quinlan AR, Hall IM. 2010. BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics 26:841-842.
25. Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, Kamisago M, Momma K, Katayama H, Nakagawa M, Fujiwara Y, Matsushima M, et al. 2007. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet 39:1013-1017.
26. Roberts AE, Allanson JE, Tartaglia M, Gelb BD. 2013. Noonan syndrome. Lancet 381:333-342.
27. Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS. 2007. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet 39:70-74.
28. Sondermann H, Soisson SM, Boykevisch S, Yang SS, Bar-Sagi D, Kuriyan J. 2004. Structural analysis of autoinhibition in the Ras activator Son of sevenless. Cell 119:393-405.
29. Tartaglia M, Gelb BD. 2010. Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms. Ann N Y Acad Sci 1214:99-121.
30. Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, et al. 2007. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet 39:75-79.
31. Tian X, Gotoh T, Tsuji K, Lo EH, Huang S, Feig LA. 2004. Developmentally regulated role for Ras-GRFs in coupling NMDA glutamate receptors to Ras, Erk and CREB. EMBO J 23:1567-1575.
32. Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, et al. 2015. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. J Med Genet 52:413-421.