Effects of clinically relevant MPL mutations in the transmembrane domain revealed at the atomic level through computational modeling

PLoS ONE

Volumn 6, Issue 8, 2011, Pages

  Lee, Tai Sung ^a   Kantarjian, Hagop ^b   Ma, Wanlong ^c   Yeh, Chen Hsiung ^c   Giles, Francis ^d   Albitar, Maher ^c  

^a RUTGERS UNIVERSITY   (United States)

^b UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^c QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

^d UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKINE RECEPTOR; JANUS KINASE 2; MEMBRANE PROTEIN; MUTANT PROTEIN; MYELOPROLIFERATIVE LEUKEMIA VIRUS PROTEIN; ONCOPROTEIN; THROMBOPOIETIN RECEPTOR; UNCLASSIFIED DRUG; MPL PROTEIN, HUMAN; PIAS4 PROTEIN, HUMAN; PROTEIN INHIBITOR OF ACTIVATED STAT; STAT PROTEIN;

ARTICLE; CONFORMATIONAL TRANSITION; CONTROLLED STUDY; ENZYME ACTIVATION; GENE MUTATION; HYDROPHILICITY; HYDROPHOBICITY; INTRACELLULAR SIGNALING; MATHEMATICAL MODEL; MOLECULAR DYNAMICS; MUTATIONAL ANALYSIS; MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE; ONCOGENE; PREDICTION; PROCESS MODEL; PROTEIN DOMAIN; PROTEIN FUNCTION; STRUCTURAL HOMOLOGY; STRUCTURE ANALYSIS; WILD TYPE; AMINO ACID SUBSTITUTION; BIOLOGICAL MODEL; BIOLOGY; CHEMICAL STRUCTURE; CHEMISTRY; CONFORMATION; GENETICS; HUMAN; METABOLISM; METHODOLOGY; MUTATION; MYELOPROLIFERATIVE DISORDER; PATHOLOGY; PROTEIN TERTIARY STRUCTURE; SIGNAL TRANSDUCTION;

AMINO ACID SUBSTITUTION; COMPUTATIONAL BIOLOGY; HUMANS; JANUS KINASE 2; MODELS, BIOLOGICAL; MODELS, MOLECULAR; MOLECULAR CONFORMATION; MOLECULAR DYNAMICS SIMULATION; MUTATION; MYELOPROLIFERATIVE DISORDERS; PROTEIN INHIBITORS OF ACTIVATED STAT; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, THROMBOPOIETIN; SIGNAL TRANSDUCTION; STAT TRANSCRIPTION FACTORS;

EID: 80051814548     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0023396     Document Type: Article

References (41)

1. Vigon I, Mornon JP, Cocault L, Mitjavila MT, Tambourin P, et al. (1992) Molecular cloning and characterization of MPL, the human homolog of the v-mpl oncogene: identification of a member of the hematopoietic growth factor receptor superfamily. Proc Natl Acad Sci U S A 89: 5640-5644.
2. Wendling F, Vainchenker W, (1998) Thrombopoietin and its receptor. Eur Cytokine Netw 9: 221-231.
3. Drachman JG, Kaushansky K, (1997) Dissecting the thrombopoietin receptor: functional elements of the Mpl cytoplasmic domain. Proc Natl Acad Sci U S A 94: 2350-2355.
4. Drexler HG, Quentmeier H, (1996) Thrombopoietin: expression of its receptor MPL and proliferative effects on leukemic cells. Leukemia 10: 1405-1421.
5. Kilpivaara O, Levine RL, (2008) JAK2 and MPL mutations in myeloproliferative neoplasms: discovery and science. Leukemia 22: 1813-1817.
6. Tefferi A, (2008) JAK and MPL mutations in myeloid malignancies. Leuk Lymphoma 49: 388-397.
7. Pardanani AD, Levine RL, Lasho T, Pikman Y, Mesa RA, et al. (2006) MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 108: 3472-3476.
8. Chaligné R, Tonetti C, Besancenot R, Roy L, Marty C, et al. (2008) New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition. Leukemia 22: 1557-1566.
9. Schnittger S, Bacher U, Haferlach C, Beelen D, Bojko P, et al. (2009) Characterization of 35 new cases with four different MPLW515 mutations and essential thrombocytosis or primary myelofibrosis. Haematologica 94: 141-144.
10. Bennett M, Stroncek DF, (2006) Recent advances in the bcr-abl negative chronic myeloproliferative diseases. J Transl Med 4: 41.
11. Lee T-S, Giambaşu GM, Sosa CP, Martick M, Scott WG, et al. (2009) Threshold Occupancy and Specific Cation Binding Modes in the Hammerhead Ribozyme Active Site are Required for Active Conformation. J Mol Biol 388: 195-206.
12. Lee T-S, Ma W, Zhang X, Kantarjian H, Albitar M, (2009) Structural effects of clinically observed mutations in JAK2 exons 13-15: comparison with V617F and exon 12 mutations. BMC Struct Biol 9: 58.
13. Tusnády GE, Simon I, (2001) The HMMTOP transmembrane topology prediction server. Bioinformatics 17: 849-850.
14. Krogh A, Larsson B, von Heijne G, Sonnhammer EL, (2001) Predicting transmembrane protein topology with a hidden Markov model: application to complete genomes. J Mol Biol 305: 567-580.
15. Fiser A, Sali A, (2003) Modeller: generation and refinement of homology-based protein structure models. Methods Enzymol 374: 461-491.
16. Rohl CA, Strauss CEM, Misura KMS, Baker D, (2004) Protein structure prediction using Rosetta. Methods Enzymol 383: 66-93.
17. Kim DE, Chivian D, Baker D, (2004) Protein structure prediction and analysis using the Robetta server. Nucleic Acids Res 32: W526-W531.
18. Staerk J, Lacout C, Sato T, Smith SO, Vainchenker W, et al. (2006) An amphipathic motif at the transmembrane-cytoplasmic junction prevents autonomous activation of the thrombopoietin receptor. Blood 107: 1864-1871.
19. Humphrey W, Dalke A, Schulten K, (1996) VMD: Visual Molecular Dynamics. J Mol Grapics 14: 33-38.
20. Jorgensen WL, Chandrasekhar J, Madura JD, Impey RW, Klein ML, (1983) Comparison of simple potential functions for simulating liquid water. J Chem Phys 79: 926-935.
21. Phillips JC, Braun R, Wang W, Gumbart J, Tajkhorshid E, et al. (2005) Scalable Molecular Dynamics with NAMD. J Comput Chem 26: 1781-1802.
22. Brooks BR, Bruccoleri RE, Olafson BD, States DJ, Swaminathan S, et al. (1983) Charmm: a program for macromolecular energy minimization and dynamics calculations. J Comput Chem 4: 187-217.
23. Essmann U, Perera L, Berkowitz ML, Darden T, Hsing L, et al. (1995) A smooth particle mesh Ewald method. J Chem Phys 103: 8577-8593.
24. Ryckaert JP, Ciccotti G, Berendsen HJC, (1977) Numerical Integration of the Cartesian Equations of Motion of a System with Constraints: Molecular Dynamics of n-Alkanes. J Comput Phys 23: 327-341.
25. Ding J, Komatsu H, Iida S, Yano H, Kusumoto S, et al. (2009) The Asn505 mutation of c-MPL gene, which causes familial essential thrombocythemia, induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polarity. Blood.
26. van der Wel PCA, Reed ND, Greathouse DV, Koeppe RE, (2007) Orientation and motion of tryptophan interfacial anchors in membrane-spanning peptides. Biochemistry 46: 7514-7524.
27. Norman KE, Nymeyer H, (2006) Indole localization in lipid membranes revealed by molecular simulation. Biophys J 91: 2046-2054.
28. Shi L, Cembran A, Gao J, Veglia G, (2009) Tilt and azimuthal angles of a transmembrane peptide: a comparison between molecular dynamics calculations and solid-state NMR data of sarcolipin in lipid membranes. Biophys J 96: 3648-3662.
29. Ulmschneider MB, Sansom MSP, Nola AD, (2006) Evaluating tilt angles of membrane-associated helices: comparison of computational and NMR techniques. Biophys J 90: 1650-1660.
30. Yeagle PL, Bennett M, Lemaître V, Watts A, (2007) Transmembrane helices of membrane proteins may flex to satisfy hydrophobic mismatch. Biochim Biophys Acta 1768: 530-537.
31. Lee J, Im W, (2008) Transmembrane helix tilting: insights from calculating the potential of mean force. Phys Rev Lett 100: 018103.
32. Pezet A, Buteau H, Kelly PA, Edery M, (1997) The last proline of Box 1 is essential for association with JAK2 and functional activation of the prolactin receptor. Mol Cell Endocrinol 129: 199-208.
33. Hubbard SR, Miller WT, (2007) Receptor tyrosine kinases: mechanisms of activation and signaling. Curr Opin Cell Biol 19: 117-123.
34. Grötzinger J, (2002) Molecular mechanisms of cytokine receptor activation. Biochim Biophys Acta 1592: 215-223.
35. Schlessinger J, (2000) Cell signaling by receptor tyrosine kinases. Cell 103: 211-225.
36. Sebald W, Nickel J, Zhang J-L, Mueller TD, (2010) Molecular basis of cytokine signalling-theme and variations. FEBS J 277: 106-118.
37. Constantinescu SN, Huang LJ, Nam H, Lodish HF, (2001) The erythropoietin receptor cytosolic juxtamembrane domain contains an essential, precisely oriented, hydrophobic motif. Mol Cell 7: 377-385.
38. Lu X, Gross AW, Lodish HF, (2006) Active conformation of the erythropoietin receptor: random and cysteine-scanning mutagenesis of the extracellular juxtamembrane and transmembrane domains. J Biol Chem 281: 7002-7011.
39. Tong W, Ibarra YM, Lodish HF, (2007) Signals emanating from the membrane proximal region of the thrombopoietin receptor (mpl) support hematopoietic stem cell self-renewal. Exp Hematol 35: 1447-1455.
40. Hubbard SR, (2009) The Juxtamembrane Region of EGFR Takes Center Stage. Cell 137: 1181-1183.
41. Jura N, Endres NF, Engel K, Deindl S, Das R, et al. (2009) Mechanism for Activation of the EGF Receptor Catalytic Domain by the Juxtamembrane Segment. Cell 137: 1293-1307.