Phosphoinositide phosphatases and disease

Journal of Lipid Research

Volumn 50, Issue SUPPL., 2009, Pages

  Majerus, Philip W ^a   York, John D ^b  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Charcot Marie Tooth disease; Jobert syndrome; Kinase; Lipid code; Lowe syndrome; Membrane trafficking; Myotubularin

Indexed keywords

INOSITOL; PHOSPHATASE;

ANIMAL; ARTICLE; GENERAL ASPECTS OF DISEASE; GENETICS; HUMAN; METABOLISM; MUTATION; SIGNAL TRANSDUCTION;

ANIMALS; DISEASE; HUMANS; INOSITOL; MUTATION; PHOSPHORIC MONOESTER HYDROLASES; SIGNAL TRANSDUCTION;

EID: 66349102523     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.R800072-JLR200     Document Type: Review

References (53)

1. Janne, P. A., S. F. Suchy, D. Bernard, M. MacDonald, J. Crawley, A. Grinberg, A. Wynshaw-Boris, H. Westphal, and R. L. Nussbaum. 1998. Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. J. Clin. Invest. 101: 2042-2053.
2. Suh, P. G., J. I. Park, L. Manzoli, L. Cocco, J. C. Peak, M. Katan, K. Fukami, T. Kataoka, S. Yun, and S. H. Ryu. 2008. Multiple roles of phosphoinositide-specific phospholipase C isozymes. BMB Rep. 41:415-434. (Pubitemid 351914885)
3. Astle, M. V., K. A. Horan, L. M. Ooms, and C. A. Mitchell. 2007. The inositol polyphosphate 5-phosphatases: traffic controllers, waistline watchers and tumour suppressors? Biochem. Soc. Symp. 161-181.
4. Attree, O., I. M. Olivos, I. Okabe, L. C. Bailey, D. L. Nelson, R. A. Lewis, R. R. McInnes, and R. L. Nussbaum. 1992. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature. 358: 239-242.
5. McPherson, P. S., E. P. Garcia, V. I. Slepnev, C. David, X. Zhang, D. Grabs, W. S. Sossin, R. Bauerfeind, Y. Nemoto, and P. De Camilli. 1996. A presynaptic inositol-5-phosphatase. Nature. 379: 353-357. (Pubitemid 26033932)
6. Backers, K., D. Blero, N. Paternotte, J. Zhang, and C. Erneux. 2003. The termination of PI3K signalling by SHIP1 and SHIP2 inositol 5-phosphatases. Adv. Enzyme Regul. 43: 15-28. (Pubitemid 36872819)
7. Norris, F. A., R. C. Atkins, and P. W. Majerus. 1997. The cDNA cloning and characterization of inositol polyphosphate 4-phosphatase type II. Evidence for conserved alternative splicing in the 4-phosphatase family. J. Biol. Chem. 272: 23859-23864. (Pubitemid 27410966)
8. Nystuen, A., M. E. Legare, L. D. Shultz, and W. N. Frankel. 2001. A null mutation in inositol polyphosphate 4-phosphatase type I causes selective neuronal loss in weeble mutant mice. Neuron. 32:203-212. (Pubitemid 33030189)
9. Maehama, T., G. S. Taylor, and J. E. Dixon. 2001. PTEN and myotubularin: novel phosphoinositide phosphatases. Annu. Rev. Biochem. 70: 247-279. (Pubitemid 32662211)
10. Yuan, T. L., and L. C. Cantley. 2008. PI3K pathway alterations in cancer: variations on a theme. Oncogene. 27: 5497-5510.
11. Guo, S., L. E. Stolz, S. M. Lemrow, and J. D. York. 1999. SAC1- like domains of yeast SAC1, INP52, and INP53 and of human synaptojanin encode polyphosphoinositide phosphatases. J. Biol. Chem. 274: 12990-12995.
12. Duex, J. E., F. Tang, and L. S. Weisman. 2006. The Vac14p-Fig4p complex acts independently of Vac7p and couples PI3,5P2 synthesis and turnover. J. Cell Biol. 172: 693-704.
13. Blagoveshchenskaya, A., F. Y. Cheong, H. M. Rohde, G. Glover, A. Knodler, T. Nicolson, G. Boehmelt, and P. Mayinger. 2008. Integration of Golgi trafficking and growth factor signaling by the lipid phosphatase SAC1. J. Cell Biol. 180: 803-812. (Pubitemid 351397779)
14. Botelho, R. J., J. A. Efe, D. Teis, and S. D. Emr. 2008. Assembly of a Fab1 phosphoinositide kinase signaling complex requires the Fig4 phosphoinositide phosphatase. Mol. Biol. Cell. 19: 4273-4286.
15. Hughes, W. E., F. T. Cooke, and P. J. Parker. 2000. Sac phosphatase domain proteins. Biochem. J. 350: 337-352.
16. Cleves, A. E., P. J. Novick, and V. A. Bankaitis. 1989. Mutations in the SAC1 gene suppress defects in yeast Golgi and yeast actin function. J. Cell Biol. 109: 2939-2950. (Pubitemid 20011920)
17. Novick, P., B. C. Osmond, and D. Botstein. 1989. Suppressors of yeast actin mutations. Genetics. 121: 659-674. (Pubitemid 19105484)
18. Liu, Y., M. Boukhelifa, E. Tribble, E. Morin-Kensicki, A. Uetrecht, J. E. Bear, and V. A. Bankaitis. 2008. The Sac1 phosphoinositide phosphatase regulates Golgi membrane morphology and mitotic spindle organization in mammals. Mol. Biol. Cell. 19: 3080-3096.
19. Chow, C. Y., Y. Zhang, J. J. Dowling, N. Jin, M. Adamska, K. Shiga, K. Szigeti, M. E. Shy, J. Li, X. Zhang, et al. 2007. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature. 448: 68-72. (Pubitemid 47036999)
20. Nicot, A. S., and J. Laporte. 2008. Endosomal phosphoinositides and human diseases. Traffic. 9: 1240-1249. (Pubitemid 352016284)
21. Di Paolo, G., and P. De Camilli. 2006. Phosphoinositides in cell regulation and membrane dynamics. Nature. 443: 651-657. (Pubitemid 44564702)
22. Hurley, J. H., and S. D. Emr. 2006. The ESCRT complexes: structure and mechanism of a membrane-trafficking network. Annu. Rev. Biophys. Biomol. Struct. 35: 277-298. (Pubitemid 43877379)
23. Strahl, T., and J. Thorner. 2007. Synthesis and function of membrane phosphoinositides in budding yeast, Saccharomyces cerevisiae. Biochim. Biophys. Acta. 1771: 353-404. (Pubitemid 46428617)
24. Heck, J. N., D. L. Mellman, K. Ling, Y. Sun, M. P. Wagoner, N. J. Schill, and R. A. Anderson. 2007. A conspicuous connection: structure defines function for the phosphatidylinositol-phosphate kinase family. Crit. Rev. Biochem. Mol. Biol. 42: 15-39. (Pubitemid 46391135)
25. Voelker, D. R. 2005. Protein and lipid motifs regulate phosphatidylserine traffic in yeast. Biochem. Soc. Trans. 33: 1141-1145. (Pubitemid 41659135)
26. Dowler, S., R. A. Currie, D. G. Campbell, M. Deak, G. Kular, C. P. Downes, and D. R. Alessi. 2000. Identification of pleckstrin-homology- domain-containing proteins with novel phosphoinositide-binding specificities. Biochem. J. 351: 19-31.
27. Odorizzi, G., M. Babst, and S. D. Emr. 2000. Phosphoinositide signaling and the regulation of membrane trafficking in yeast. Trends Biochem. Sci. 25: 229-235. (Pubitemid 30236220)
28. Williams, R. L., and S. Urbe. 2007. The emerging shape of the ESCRT machinery. Nat. Rev. Mol. Cell Biol. 8: 355-368. (Pubitemid 46643239)
29. Lemmon, M. A. 2008. Membrane recognition by phospholipid-binding domains. Nat. Rev. Mol. Cell Biol. 9: 99-111. (Pubitemid 351158910)
30. Dove, S. K., F. T. Cooke, M. R. Douglas, L. G. Sayers, P. J. Parker, and R. H. Michell. 1997. Osmotic stress activates phosphatidylinositol- 3,5-bisphosphate synthesis. Nature. 390: 187-192. (Pubitemid 27507990)
31. Cooke, F. T., S. K. Dove, R. K. McEwen, G. Painter, A. B. Holmes, M. N. Hall, R. H. Michell, and P. J. Parker. 1998. The stress-activated phosphatidylinositol 3-phosphate 5-kinase Fab1p is essential for vacuole function in S. cerevisiae. Curr. Biol. 8: 1219-1222. (Pubitemid 29006661)
32. Sbrissa, D., O. C. Ikonomov, and A. Shisheva. 1999. PIKfyve, a mammalian ortholog of yeast Fab1p lipid kinase, synthesizes 5- phosphoinositides. Effect of insulin. J. Biol. Chem. 274: 21589-21597.
33. Robinson, F. L., and J. E. Dixon. 2006. Myotubularin phosphatases: policing 3-phosphoinositides. Trends Cell Biol. 16: 403-412. (Pubitemid 44160552)
34. Caldwell, K. K., D. L. Lips, V. S. Bansal, and P. W. Majerus. 1991. Isolation and characterization of two 3-phosphatases that hydrolyze both phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. J. Biol. Chem. 266: 18378-18386. (Pubitemid 21908091)
35. Clague, M. J., S. K. Dove, and F. A. Barr. 2004. I-proteins-a proposed switch in myotubularin function. Trends Biochem. Sci. 29: 58-61. (Pubitemid 38186575)
36. Chung, J. K., F. Sekiya, H. S. Kang, C. Lee, J. S. Han, S. R. Kim, Y. S. Bae, A. J. Morris, and S. G. Rhee. 1997. Synaptojanin inhibition of phospholipase D activity by hydrolysis of phosphatidylinositol 4,5-bisphosphate. J. Biol. Chem. 272: 15980-15985. (Pubitemid 27265580)
37. Harris, T. W., E. Hartwieg, H. R. Horvitz, and E. M. Jorgensen. 2000. Mutations in synaptojanin disrupt synaptic vesicle recycling. J. Cell Biol. 150: 589-600.
38. Sakisaka, T., T. Itoh, K. Miura, and T. Takenawa. 1997. Phosphatidylinositol 4,5-bisphosphate phosphatase regulates the rearrangement of actin filaments. Mol. Cell. Biol. 17: 3841-3849. (Pubitemid 27281859)
39. Mani, M., S. Y. Lee, L. Lucast, O. Cremona, G. Di Paolo, P. De Camilli, and T. A. Ryan. 2007. The dual phosphatase activity of synaptojanin1 is required for both efficient synaptic vesicle endocytosis and reavailability at nerve terminals. Neuron. 56: 1004-1018. (Pubitemid 350251112)
40. Roberts, H. F., J. H. Clarke, A. J. Letcher, R. F. Irvine, and K. A. Hinchliffe. 2005. Effects of lipid kinase expression and cellular stimuli on phosphatidylinositol 5-phosphate levels in mammalian cell lines. FEBS Lett. 579: 2868-2872. (Pubitemid 40725259)
41. Ungewickell, A., C. Hugge, M. Kisseleva, S. C. Chang, J. Zou, Y. Feng, E. E. Galyov, M. Wilson, and P. W. Majerus. 2005. The identification and characterization of two phosphatidylinositol- 4,5-bisphosphate 4-phosphatases. Proc. Natl. Acad. Sci. USA. 102:18854-18859. (Pubitemid 43049531)
42. Gozani, O., P. Karuman, D. R. Jones, D. Ivanov, J. Cha, A. A. Lugovskoy, C. L. Baird, H. Zhu, S. J. Field, S. L. Lessnick, et al. 2003. The PHD finger of the chromatin-associated protein ING2 functions as a nuclear phosphoinositide receptor. Cell. 114: 99-111. (Pubitemid 36859844)
43. Zou, J., J. Marjanovic, M. V. Kisseleva, M. Wilson, and P. W. Majerus. 2007. Type I phosphatidylinositol-4,5-bisphosphate 4-phosphatase regulates stress-induced apoptosis. Proc. Natl. Acad. Sci. USA. 104:16834-16839. (Pubitemid 350210951)
44. Kutateladze, T. G. 2006. Phosphatidylinositol 3-phosphate recognition and membrane docking by the FYVE domain. Biochim. Biophys. Acta. 1761: 868-877. (Pubitemid 44332324)
45. Brazil, D. P., J. Park, and B. A. Hemmings. 2002. PKB binding proteins. Getting in on the Akt. Cell. 111: 293-303. (Pubitemid 35341386)
46. Toker, A., and M. Yoeli-Lerner. 2006. Akt signaling and cancer: surviving but not moving on. Cancer Res. 66: 3963-3966.
47. Suh, B. C., T. Inoue, T. Meyer, and B. Hille. 2006. Rapid chemically induced changes of PtdIns(4,5)P2 gate KCNQ ion channels. Science. 314: 1454-1457. (Pubitemid 44871951)
48. James, D. J., C. Khodthong, J. A. Kowalchyk, and T. F. Martin. 2008. Phosphatidylinositol 4,5-bisphosphate regulates SNARE-dependent membrane fusion. J. Cell Biol. 182: 355-366.
49. Stauffer, T. P., S. Ahn, and T. Meyer. 1998. Receptor-induced transient reduction in plasma membrane PtdIns(4,5)P2 concentration monitored in living cells. Curr. Biol. 8: 343-346. (Pubitemid 28159121)
50. Taylor, G. S., T. Maehama, and J. E. Dixon. 2000. Inaugural article: myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. Proc. Natl. Acad. Sci. USA. 97:8910-8915. (Pubitemid 30626647)
51. Hampshire, D. J., M. Ayub, K. Springell, E. Roberts, H. Jafri, Y. Rashid, J. Bond, J. H. Riley, and C. G. Woods. 2006. MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34. Eur. J. Hum. Genet. 14: 543-548.
52. Kisseleva, M. V., M. P. Wilson, and P. W. Majerus. 2000. The isolation and characterization of a cDNA encoding phospholipid-specific inositol polyphosphate 5-phosphatase. J. Biol. Chem. 275: 20110-20116. (Pubitemid 30441622)
53. Zaki, M. S., A. Abdel-Aleem, G. Abdel-Salam, S. E. Marsh, J. L. Silhavy, A. J. Barkovich, M. E. Ross, S. N. Saleem, W. B. Dobyns, and J. G. Gleeson. 2008. The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology. 70: 556-565. (Pubitemid 351653381)