Molecular insights into the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1

FEBS Letters

Volumn 586, Issue 17, 2012, Pages 2795-2799

  Sudol, Marius ^a,b   McDonald, Caleb B ^c,d   Farooq, Amjad ^c,d  

^a WEIS CENTER FOR RESEARCH   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF MIAMI   (United States)

Author keywords

Cysteine oxidation; Disulfide bridge; Intellectual disability; mRNA processing; WW domain

Indexed keywords

BINDING PROTEIN; MESSENGER RNA; POLYGLUTAMINE TRACT BINDING PROTEIN 1; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; CARBOXY TERMINAL SEQUENCE; CRYSTAL STRUCTURE; DISULFIDE BOND; GAIN OF FUNCTION MUTATION; GOLABI ITO SYNDROME; HUMAN; LIGAND BINDING; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; OXIDATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; REVIEW; RNA PROCESSING; RNA SPLICING; SEQUENCE ALIGNMENT; STRUCTURE ANALYSIS; X CHROMOSOME RECESSIVE DISORDER;

AMINO ACID SEQUENCE; CARRIER PROTEINS; CYSTEINE; DISULFIDES; HUMANS; INTELLECTUAL DISABILITY; LIGANDS; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; OXYGEN; PROTEIN BINDING; PROTEIN CONFORMATION; PROTEIN STRUCTURE, TERTIARY; RNA, MESSENGER; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME;

EID: 84864586867     PISSN: 00145793     EISSN: 18733468     Source Type: Journal    
DOI: 10.1016/j.febslet.2012.03.041     Document Type: Review

References (21)

1. A. Komuro, M. Saeki, and S. Kato Association of two nuclear proteins, Npw38 and NpwBP, via the interaction between the WW domain and a novel proline-rich motif containing glycine and arginine J. Biol. Chem. 274 1999 36513 36519
2. A. Komuro, M. Saeki, and S. Kato Npw38, a novel nuclear protein possessing a WW domain capable of activating basal transcription Nucleic Acids Res. 27 1999 1957 1965
3. M. Waragai, C.H. Lammers, S. Takeuchi, I. Imafuku, Y. Udagawa, I. Kanazawa, M. Kawabata, M.M. Mouradian, and H. Okazawa PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival Hum. Mol. Genet. 8 1999 977 987
4. H. Okazawa, T. Rich, A. Chang, X. Lin, M. Waragai, M. Kajikawa, Y. Enokido, A. Komuro, S. Kato, M. Shibata, H. Hatanaka, M.M. Mouradian, M. Sudol, and I. Kanazawa Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death Neuron 34 2002 701 713
5. M. Sudol, K. Sliwa, and T. Russo Functions of WW domains in the nucleus FEBS Lett. 490 2001 190 195
6. H. Okazawa, M. Sudol, and T. Rich PQBP-1 (Np/PQ): a polyglutamine tract-binding and nuclear inclusion-forming protein Brain Res. Bull. 56 2001 273 280
7. V.M. Kalscheuer, K. Freude, L. Musante, L.R. Jensen, H.G. Yntema, J. Gecz, A. Sefiani, K. Hoffmann, B. Moser, S. Haas, U. Gurok, S. Haesler, B. Aranda, A. Nshedjan, A. Tzschach, N. Hartmann, T.C. Roloff, S. Shoichet, O. Hagens, J. Tao, H. Van Bokhoven, G. Turner, J. Chelly, C. Moraine, J.P. Fryns, U. Nuber, M. Hoeltzenbein, C. Scharff, H. Scherthan, S. Lenzner, B.C. Hamel, S. Schweiger, and H.H. Ropers Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation Nat. Genet. 35 2003 313 315
8. H. Lubs, F.E. Abidi, R. Echeverri, L. Holloway, A. Meindl, R.E. Stevenson, and C.E. Schwartz Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene J. Med. Genet. 43 2006 e30
9. M. Golabi, M. Ito, and B.D. Hall A new X-linked multiple congenital/mental retardation syndrome Am. J. Med. Genet. 17 1984 367 374
10. S.A. Kunde, L. Musante, A. Grimme, U. Fischer, E. Muller, E.E. Wanker, and V.M. Kalscheuer The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules Hum. Mol. Genet. 20 2011 4916 4931
11. P. Bork, and M. Sudol The WW domain: a signalling site in dystrophin? Trends Biochem. Sci. 19 1994 531 533
12. H.I. Chen, and M. Sudol The WW domain of Yes-associated protein binds a proline-rich ligand that differs from the consensus established for Src homology 3-binding modules Proc. Natl. Acad. Sci. USA 92 1995 7819 7823
13. M. Sudol, P. Bork, A. Einbond, K. Kastury, T. Druck, M. Negrini, K. Huebner, and D. Lehman Characterization of the mammalian YAP (Yes-associated protein) gene and its role in defining a novel protein module, the WW domain J. Biol. Chem. 270 1995 14733 14741
14. V.E. Tapia, E. Nicolaescu, C.B. McDonald, V. Musi, T. Oka, Y. Inayoshi, A.C. Satteson, V. Mazack, J. Humbert, C.J. Gaffney, M. Beullens, C.E. Schwartz, C. Landgraf, R. Volkmer, A. Pastore, A. Farooq, M. Bollen, and M. Sudol Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing J. Biol. Chem. 285 2010 19391 19401
15. M. Jager, Y. Zhang, J. Bieschke, H. Nguyen, M. Dendle, M.E. Bowman, J.P. Noel, M. Gruebele, and J.W. Kelly Structure-function-folding relationship in a WW domain Proc. Natl. Acad. Sci. USA 103 2006 10648 10653
16. M.J. Macias, M. Hyvonen, E. Baraldi, J. Schultz, M. Sudol, M. Saraste, and H. Oschkinat Structure of the WW domain of a kinase-associated protein complexed with a proline-rich peptide Nature 382 1996 646 649
17. X. Huang, F. Poy, R. Zhang, A. Joachimiak, M. Sudol, and M.J. Eck Structure of a WW domain containing fragment of dystrophin in complex with beta-dystroglycan Nat. Struct. Biol. 7 2000 634 638
18. P.A. Savitsky, and T. Finkel Redox regulation of Cdc25C J. Biol. Chem. 277 2002 20535 20540
19. A. Ostman, J. Frijhoff, A. Sandin, and F.D. Bohmer Regulation of protein tyrosine phosphatases by reversible oxidation J. Biochem. 150 2011 345 356
20. T.J. Mansell, S.W. Linderman, A.C. Fisher, and M.P. DeLisa A rapid protein folding assay for the bacterial periplasm Protein Sci. 19 2010 1079 1090
21. M. Baclayon, W.H. Roos, and G.J. Wuite Sampling protein form and function with the atomic force microscope Mol. Cell Proteomics 9 2010 1678 1688