Role of ERK1/2 signaling in congenital valve malformations in Noonan syndrome

Proceedings of the National Academy of Sciences of the United States of America

Volumn 105, Issue 48, 2008, Pages 18930-18935

  Krenz, Maike ^a   Gulick, James ^a   Osinska, Hanna E ^a   Colbert, Melissa C ^a   Molkentin, Jeffery D ^a   Robbins, Jeffrey ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Cardiac; Heart

Indexed keywords

CRE RECOMBINASE; MITOGEN ACTIVATED PROTEIN KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE 3; PROTEIN TYROSINE PHOSPHATASE SHP 2;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CARDIOVASCULAR MALFORMATION; CELL LINEAGE; ENDOCARDIAL CUSHION; ENZYME ACTIVATION; GENE; GENE OVEREXPRESSION; HYPERTROPHIC CARDIOMYOPATHY; MOUSE; MUTANT; NONHUMAN; NOONAN SYNDROME; PRIORITY JOURNAL; PROTEIN EXPRESSION; PULMONARY VALVE STENOSIS; SHP2 GENE;

ANIMALS; CONGENITAL ABNORMALITIES; DISEASE MODELS, ANIMAL; ENZYME ACTIVATION; GENE DELETION; GENOTYPE; HEART; HEART VALVES; HUMANS; MICE; MICE, TRANSGENIC; MITOGEN-ACTIVATED PROTEIN KINASE 1; MITOGEN-ACTIVATED PROTEIN KINASE 3; NOONAN SYNDROME; PHENOTYPE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; SIGNAL TRANSDUCTION;

MUS;

EID: 57749114779     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0806556105     Document Type: Article

References (31)

1. Hoffman JI, Kaplan S (2002) The incidence of congenital heart disease. J Am Coll Cardiol 39:1890-1900.
2. Loffredo CA (2000) Epidemiology of cardiovascular malformations: Prevalence and risk factors. Am J Med Genet 97:319-325.
3. Tartaglia M, et al. (2001) Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29:465-468.
4. Noonan JA (1968) Hypertelorism with Turner phenotype: A new syndrome with associated congenital heart disease. Am J Dis Child 116:373-380.
5. Burch M, et al. (1993) Cardiologic abnormalities in Noonan syndrome: Phenotypic diagnosis and echocardiographic assessment of 118 patients. J Am Coll Cardiol 22:1189-1192.
6. Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B (1999) Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr 135:703-706.
7. Van der Hauwaert LG, Fryns JP, Dumoulin M, Logghe N (1978) Cardiovascular malformations in Turner's and Noonan's syndrome. Br Heart J 40:500-509.
8. Neel BG, Gu H, Pao L (2003) The "Shp"ing news: SH2 domain-containing tyrosine phosphatases in cell signaling. Trends Biochem Sci 28:284-293.
9. Hof P, Pluskey S, Dhe-Paganon S, Eck MJ, Shoelson SE (1998) Crystal structure of the tyrosine phosphatase SHP-2. Cell 92:441-450.
10. O'Reilly AM, Pluskey S, Shoelson SE, Neel BG (2000) Activated mutants of SHP-2 preferentially induce elongation of Xenopus animal caps. Mol Cell Biol 20:299-311.
11. Krenz M, Yutzey KE, Robbins J (2005) Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling. Circ Res 97:813-820.
12. Feng GS (1999) Shp2 tyrosine phosphatase: Signaling one cell or many. Exp Cell Res 253:47-54.
13. Stein-Gerlach M, Wallasch C, Ullrich A (1998) SHP-2, SH2-containing protein tyrosine phosphatase-2. Int J Biochem Cell Biol 30:559-566.
14. Armstrong EJ, Bischoff J (2004) Heart valve development: Endothelial cell signaling and differentiation. Circ Res 95:459-470.
15. Araki T, et al. (2004) Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation. Nat Med 10:849-857.
16. Nakamura T, et al. (2007) Mediating ERK1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome. J Clin Invest 117:2123-2132.
17. Schlaeger TM, et al. (1997) Uniform vascular endothelial cell-specific gene expression in both embryonic and adult transgenic mice. Proc Natl Acad Sci USA 94:3058-3063.
18. Gitler AD, et al. (2003) Nf1 has an essential role in endothelial cells. Nat Genet 33:75-79.
19. Lincoln J, Kist R, Scherer G, Yutzey KE (2007) Sox9 is required for precursor cell expansion and extracellular matrix organization during mouse heart valve development. Dev Biol 305:120-132.
20. Kisanuki YY, et al. (2001) Tie2-Cre transgenic mice: A new model for endothelial cell-lineage analysis in vivo. Dev Biol 230:230-234.
21. Lincoln J, Alfieri CM, Yutzey KE (2004) Development of heart valve leaflets and supporting apparatus in chicken and mouse embryos. Dev Dyn 230:239-250.
22. de Lange FJ, et al. (2004) Lineage and morphogenetic analysis of the cardiac valves. Circ Res 95:645-654.
23. Pagès G, et al. (1999) Defective thymocyte maturation in p44 MAP kinase (Erk1) knockout mice. Science 286:1374-1377.
24. Saba-El-Leil MK, et al. (2003) Essential role of the MAP kinase ERK2 in mouse trophoblast development. EMBO Rep 4:964-968.
25. Johnson EN, et al. (2003) NFATc1 mediates vascular endothelial growth factor-induced proliferation of human pulmonary valve endothelial cells. J Biol Chem 278:1686-1692.
26. Liberatore CM, Yutzey KE (2004) MAP kinase activation in avian cardiovascular development. Dev Dyn 230:773-780.
27. Tartaglia M, et al. (2003) Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes, and acute myeloid leukemia. Nat Genet 34:148-150.
28. Roberts A, et al. (2006) The cardiofaciocutaneous syndrome. J Med Genet 43:833-842.
29. Lips DJ, et al. (2004) MEK1-ERK2 signaling pathway protects myocardium from ischemic injury in vivo. Circulation 109:1938-1941.
30. Purcell NH, et al. (2007) Genetic inhibition of cardiac ERK1/2 promotes stress-induced apoptosis and heart failure but has no effect on hypertrophy in vivo. Proc Natl Acad Sci USA 104:14074-14079.
31. Fewell JG, et al. (1997) A treadmill exercise regimen for identifying cardiovascular phenotypes in transgenic mice. Am J Physiol 273:H1595-H1605.