Lymphatic vessel abnormalities arising from disorders of Ras signal transduction

Trends in Cardiovascular Medicine

Volumn 24, Issue 3, 2014, Pages 121-127

  Sevick Muraca, Eva M ^a   King, Philip D ^b  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

K RAS PROTEIN; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN KINASE B; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAS PROTEIN; SOS PROTEIN; TERNARY COMPLEX FACTOR;

ARTERIOVENOUS MALFORMATION; CELL DIFFERENTIATION; CELL GROWTH; CELL PROLIFERATION; CONGENITAL BLOOD VESSEL MALFORMATION; COSTELLO SYNDROME; ENDOTHELIUM CELL; GENE TARGETING; HUMAN; LYMPH VESSEL; MULTIPLE CANCER; NONHUMAN; NOONAN SYNDROME; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION;

ANIMALS; CARDIOVASCULAR ABNORMALITIES; ENDOTHELIAL CELLS; HUMANS; LYMPHATIC VESSELS; MICE; RAS PROTEINS; SIGNAL TRANSDUCTION;

EID: 84896715993     PISSN: 10501738     EISSN: 18732615     Source Type: Journal    
DOI: 10.1016/j.tcm.2013.09.004     Document Type: Review

References (54)

1. Alitalo K. The lymphatic vasculature in disease. Nature Medicine 2011, 17:1371-1380.
2. Aoki Y., Niihori T., Kawame H., Kurosawa K., Ohashi H., Tanaka Y., et al. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nature Genetics 2005, 37:1038-1040.
3. Ayadi A., Zheng H., Sobieszczuk P., Buchwalter G., Moerman P., Alitalo K., et al. Net-targeted mutant mice develop a vascular phenotype and up-regulate egr-1. EMBO Journal 2001, 20:5139-5152.
4. Bos J.L., Rehmann H., Wittinghofer A. GEFs and GAPs: critical elements in the control of small G proteins. Cell 2007, 129:865-877.
5. Buday L., Downward J. Many faces of Ras activation. Biochimica et Biophysica Acta 2008, 1786:178-187.
6. Bundschu K., Walter U., Schuh K. Getting a first clue about SPRED functions. Bioessays 2007, 29:897-907.
7. Burrows P.E., Gonzalez-Garay M.L., Rasmussen J.C., Aldrich M.B., Guilliod R., Maus E.A., et al. Lymphatic abnormalities are associated with RASA1 gene mutations in mouse and man. Proceedings of the National Academy of Sciences of the United States of America 2013, 110:8621-8626.
8. Carta C., Pantaleoni F., Bocchinfuso G., Stella L., Vasta I., Sarkozy A., et al. Germline missense mutations affecting KRAS isoform B are associated with a severe Noonan syndrome phenotype. American Journal of Human Genetics 2006, 79:129-135.
9. Cohen M.M. Proteus syndrome: an update. American Journal of Medical Genetics C Seminars in Medical Genetics 2005, 137C:38-52.
10. Criqui-Filipe P., Ducret C., Maira S.M., Wasylyk B. Net, a negative Ras-switchable TCF, contains a second inhibition domain, the CID, that mediates repression through interactions with CtBP and de-acetylation. EMBO Journal 1999, 18:3392-3403.
11. Dance M., Montagner A., Salles J.P., Yart A., Raynal P. The molecular functions of Shp2 in the Ras/mitogen-activated protein kinase (ERK1/2) pathway. Cellular Signalling 2008, 20:453-459.
12. De Mooij Y.M., Van Den Akker N.M., Bekker M.N., Bartelings M.M., van Vugt J.M., Gittenberger-de Groot A.C. Aberrant lymphatic development in euploid fetuses with increased nuchal translucency including Noonan syndrome. Prenatal Diagnosis 2011, 31:159-166.
13. de Wijn R.S., Oduber C.E., Breugem C.C., Alders M., Hennekam R.C., van der Horst C.M. Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene. European Journal of Medical Genetics 2012, 55:191-195.
14. Deng Y., Atri D., Eichmann A., Simons M. Endothelial ERK signaling controls lymphatic fate specification. Journal of Clinical Investigation 2013, 123:1202-1215.
15. Deng Y., Simons M. Lymphatic fate determination: playing RAF with ERK. Cell Cycle 2013, 12:1157-1158.
16. Eerola I., Boon L.M., Mulliken J.B., Burrows P.E., Dompmartin A., Watanabe S., et al. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. American Journal of Human Genetics 2003, 73:1240-1249.
17. Engelman J.A., Luo J., Cantley L.C. The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism. Nature Review Genetics 2006, 7:606-619.
18. Francois M., Caprini A., Hosking B., Orsenigo F., Wilhelm D., Browne C., et al. Sox18 induces development of the lymphatic vasculature in mice. Nature 2008, 456:643-647.
19. Gupta S., Ramjaun A.R., Haiko P., Wang Y., Warne P.H., Nicke B., et al. Binding of ras to phosphoinositide 3-kinase p110alpha is required for ras-driven tumorigenesis in mice. Cell 2007, 129:957-968.
20. Henkemeyer M., Rossi D.J., Holmyard D.P., Puri M.C., Mbamalu G., Harpal K., et al. Vascular system defects and neuronal apoptosis in mice lacking ras GTPase-activating protein. Nature 1995, 377:695-701.
21. Hoey S.E., Eastwood D., Monsell F., Kangesu L., Harper J.I., Sebire N.J. Histopathological features of Proteus syndrome. Clinical and Experimental Dermatology 2008, 33:234-238.
22. Ichise T., Yoshida N., Ichise H. H-, N- and Kras cooperatively regulate lymphatic vessel growth by modulating VEGFR3 expression in lymphatic endothelial cells in mice. Development 2010, 137:1003-1013.
23. Kerr B., Delrue M.A., Sigaudy S., Perveen R., Marche M., Burgelin I., et al. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. Journal of Medical Genetics 2006, 43:401-405.
24. King P.D., Lubeck B.A., Lapinski P.E. Nonredundant functions for Ras GTPase-activating proteins in tissue homeostasis. Science Signaling 2013, 6:re1.
25. Kurek K.C., Luks V.L., Ayturk U.M., Alomari A.I., Fishman S.J., Spencer S.A., et al. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. American Journal of Human Genetics 2012, 90:1108-1115.
26. Lapinski P.E., Kwon S., Lubeck B.A., Wilkinson J.E., Srinivasan R.S., Sevick-Muraca E., et al. RASA1 maintains the lymphatic vasculature in a quiescent functional state in mice. Journal of Clinical Investigation 2012, 122:733-747.
27. Lee W.J., Lee D.W., Yang J.H., Chang S.E., Lee M.W., Choi J.H., et al. Novel occurrence of microcystic lymphatic malformation and linear port-wine stain in patients with Noonan syndrome. International Journal of Dermatology 2010, 49:232-233.
28. Leicht D.T., Balan V., Kaplun A., Singh-Gupta V., Kaplun L., Dobson M., et al. Raf kinases: function, regulation and role in human cancer. Biochimica et Biophysica Acta 2007, 1773:1196-1212.
29. Lindhurst M.J., Sapp J.C., Teer J.K., Johnston J.J., Finn E.M., Peters K., et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. New England Journal of Medicine 2011, 365:611-619.
30. Lo I.F., Brewer C., Shannon N., Shorto J., Tang B., Black G., et al. Severe neonatal manifestations of Costello syndrome. Journal of Medical Genetics 2008, 45:167-171.
31. McClatchey A.I. Neurofibromatosis. Annual Review of Pathology 2007, 2:191-216.
32. Messiaen L., Yao S., Brems H., Callens T., Sathienkijkanchai A., Denayer E., et al. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. J Am Med Assoc 2009, 302:2111-2118.
33. Oliver G., Alitalo K. The lymphatic vasculature: recent progress and paradigms. Annual Review of Cell and Developmental Biology 2005, 21:457-483.
34. Pandit B., Sarkozy A., Pennacchio L.A., Carta C., Oishi K., Martinelli S., et al. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nature Genetics 2007, 39:1007-1012.
35. Petrovic I., Kovacevic-Grujicic N., Stevanovic M. Early growth response protein 1 acts as an activator of SOX18 promoter. Experimental Molecular Medicine 2010, 42:132-142.
36. Prior I.A., Lewis P.D., Mattos C. A comprehensive survey of Ras mutations in cancer. Cancer Research 2012, 72:2457-2467.
37. Radhakrishnan K., Rockson S.G. The clinical spectrum of lymphatic disease. Annals of the New York Academy of Sciences 2008, 1131:155-184.
38. Razzaque M.A., Nishizawa T., Komoike Y., Yagi H., Furutani M., Amo R., et al. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nature Genetics 2007, 39:1013-1017.
39. Ren B., Deng Y., Mukhopadhyay A., Lanahan A.A., Zhuang Z.W., Moodie K.L., et al. ERK1/2-Akt1 crosstalk regulates arteriogenesis in mice and zebrafish. Journal of Clinical Investigation 2010, 120:1217-1228.
40. Revencu N., Boon L.M., Mulliken J.B., Enjolras O., Cordisco M.R., Burrows P.E., et al. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Human Mutation 2008, 29:959-965.
41. Roberts A., Allanson J., Jadico S.K., Kavamura M.I., Noonan J., Opitz J.M., et al. The cardiofaciocutaneous syndrome. Journal of Medical Genetics 2006, 43:833-842.
42. Schubbert S., Bollag G., Lyubynska N., Nguyen H., Kratz C.P., Zenker M., et al. Biochemical and functional characterization of germ line KRAS mutations. Molecular and Cell Biology 2007, 27:7765-7770.
43. Schubbert S., Zenker M., Rowe S.L., Boll S., Klein C., Bollag G., et al. Germline KRAS mutations cause Noonan syndrome. Nature Genetics 2006, 38:331-336.
44. Seeburg P.H., Colby W.W., Capon D.J., Goeddel D.V., Levinson A.D. Biological properties of human c-Ha-ras1 genes mutated at codon 12. Nature 1984, 312:71-75.
45. Smpokou P., Tworog-Dube E., Kucherlapati R.S., Roberts A.E. Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome. American Journal of Medical Genetics A 2012, 158A:3106-3111.
46. Stowe I.B., Mercado E.L., Stowe T.R., Bell E.L., Oses-Prieto J.A., Hernandez H., et al. A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1. Genes and Development 2012, 26:1421-1426.
47. Taniguchi K., Kohno R., Ayada T., Kato R., Ichiyama K., Morisada T., et al. Spreds are essential for embryonic lymphangiogenesis by regulating vascular endothelial growth factor receptor 3 signaling. Molecular and Cell Biology 2007, 27:4541-4550.
48. Tartaglia M., Zampino G., Gelb B.D. Noonan syndrome: clinical aspects and molecular pathogenesis. Molecular Syndromology 2010, 1:2-26.
49. Tidyman W.E., Rauen K.A. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Current Opinion in Genetics and Development 2009, 19:230-236.
50. Wasylyk B., Hagman J., Gutierrez-Hartmann A. Ets transcription factors: nuclear effectors of the Ras-MAP-kinase signaling pathway. Trends in Biochemical Sciences 1998, 23:213-216.
51. Wellbrock C., Karasarides M., Marais R. The RAF proteins take centre stage. Nature Reviews Molecular Cell Biology 2004, 5:875-885.
52. Wennerberg K., Rossman K.L., Der C.J. The Ras superfamily at a glance. Journal of Cell Science 2005, 118:843-846.
53. Wigle J.T., Oliver G. Prox1 function is required for the development of the murine lymphatic system. Cell 1999, 98:769-778.
54. Zhou F., Chang Z., Zhang L., Hong Y.K., Shen B., Wang B., et al. Akt/protein kinase B is required for lymphatic network formation, remodeling, and valve development. American Journal of Pathology 2010, 177:2124-2133.