Structural basis of p63α SAM domain mutants involved in AEC syndrome

FEBS Journal

Volumn 278, Issue 15, 2011, Pages 2680-2688

  Sathyamurthy, Aruna ^a   Freund, Stefan M V ^b   Johnson, Christopher M ^b   Allen, Mark D ^b   Bycroft, Mark ^b  

^a MRC CENTRE FOR PROTEIN ENGINEERING   (United Kingdom)

^b MRC LABORATORY OF MOLECULAR BIOLOGY   (United Kingdom)

Author keywords

5 helix bundle; AEC syndrome; mutations; p53; p63; p73; sterile alpha motif

Indexed keywords

MUTANT PROTEIN; PROTEIN P63; PROTEIN P63 ALPHA; PROTEIN P73; PROTEIN P73 ALPHA; UNCLASSIFIED DRUG;

AEC SYNDROME; ARTICLE; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; CRYSTAL STRUCTURE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NUCLEOTIDE SEQUENCE; P63 GENE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN MOTIF; PROTEIN POLYMORPHISM; PROTEIN STABILITY; SEQUENCE ALIGNMENT; STERILE ALPHA MOTIF; STRUCTURE ANALYSIS; THERMODYNAMICS; TUMOR SUPPRESSOR GENE;

AMINO ACID SEQUENCE; CLEFT LIP; CLEFT PALATE; CRYSTALLIZATION; CRYSTALLOGRAPHY, X-RAY; DNA-BINDING PROTEINS; ECTODERMAL DYSPLASIA; EYE ABNORMALITIES; EYELIDS; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; NUCLEAR MAGNETIC RESONANCE, BIOMOLECULAR; NUCLEAR PROTEINS; PROTEIN INTERACTION DOMAINS AND MOTIFS; SEQUENCE ALIGNMENT; THERMODYNAMICS; TRANSCRIPTION FACTORS; TUMOR SUPPRESSOR PROTEINS;

EID: 79960585758     PISSN: 1742464X     EISSN: 17424658     Source Type: Journal    
DOI: 10.1111/j.1742-4658.2011.08194.x     Document Type: Article

References (39)

1. Yang A, Kaghad M, Wang Y, Gillett E, Fleming MD, Dötsch V, Andrews NC, Caput D, &, McKeon F, (1998) p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities. Mol Cell 2, 305-316. (Pubitemid 128379271)
2. Osada M, Ohba M, Kawahara C, Ishioka C, Kanamaru R, Katoh I, Ikawa Y, Nimura Y, Nakagawara A, Obinata M, et al. (1998) Cloning and functional analysis of human p51, which structurally and functionally resembles p53. Nat Med 4, 839-843. (Pubitemid 28331028)
3. Yang A, Schweitzer R, Sun D, Kaghad M, Walker N, Bronson RT, Tabin C, Sharpe A, Caput D, Crum C, et al. (1999) p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature 398, 714-718. (Pubitemid 29197650)
4. Mills AA, Zheng B, Wang XJ, Vogel H, Roop DR, &, Bradley A, (1999) p63 is a p53 homologue required for limb and epidermal morphogenesis. Nature 398, 708-713. (Pubitemid 29197649)
5. Keyes WM, Vogel H, Koster MI, Guo X, Qi Y, Petherbridge KM, Roop DR, Bradley A, &, Mills AA, (2006) p63 heterozygous mutant mice are not prone to spontaneous or chemically induced tumors. Proc Natl Acad Sci USA 103, 8435-8440. (Pubitemid 43838473)
6. Koga F, Kawakami S, Fujii Y, Saito K, Ohtsuka Y, Iwai A, Ando N, Takizawa T, Kageyama Y, &, Kihara K, (2003) Impaired p63 expression associates with poor prognosis and uroplakin III expression in invasive urothelial carcinoma of the bladder. Clin Cancer Res 9, 5501-5507. (Pubitemid 37499468)
7. Park BJ, Lee SJ, Kim JI, Lee SJ, Lee CH, Chang SG, Park JH, &, Chi SG, (2000) Frequent alteration of p63 expression in human primary bladder carcinomas. Cancer Res 60, 3370-3374. (Pubitemid 30482148)
8. Urist MJ, Di Como CJ, Lu ML, Charytonowicz E, Verbel D, Crum CP, Ince TA, McKeon FD, &, Cordon-Cardo C, (2002) Loss of p63 expression is associated with tumor progression in bladder cancer. Am J Pathol 161, 1199-1206.
9. Wang X, Mori I, Tang W, Nakamura M, Nakamura Y, Sato M, Sakurai T, &, Kakudo K, (2002) p63 expression in normal, hyperplastic and malignant breast tissues. Breast Cancer 9, 216-219.
10. Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, Van Buggenhout G, van Haeringen A, et al. (1999) Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 99, 143-153. (Pubitemid 29491781)
11. van Bokhoven H, Jung M, Smits AP, van Beersum S, Rüschendorf F, van Steensel M, Veenstra M, Tuerlings JH, Mariman EC, Brunner HG, et al. (1999) Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27. Am J Hum Genet 64, 538-546. (Pubitemid 129500536)
12. van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, et al. (2001) p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet 69, 481-492. (Pubitemid 32777688)
13. Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, &, Tsipouras P, (2000) Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am J Hum Genet 67, 59-66. (Pubitemid 30481544)
14. McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, et al. (2001) Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum Mol Genet 10, 221-229. (Pubitemid 32123980)
15. Rinne T, Hamel B, van Bokhoven H, &, Brunner HG, (2006) Pattern of p63 mutations and their phenotypes-update. Am J Med Genet A 140, 1396-1406. (Pubitemid 43993130)
16. van Bokhoven H, &, Brunner HG, (2002) Splitting p63. Am J Hum Genet 71, 1-13. (Pubitemid 34734702)
17. Rinne T, Brunner HG, &, van Bokhoven H, (2007) p63-associated disorders. Cell Cycle 6, 262-268.
18. Rinne T, Bolat E, Meijer R, Scheffer H, &, van Bokhoven H, (2009) Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). Am J Med Genet A 149, 1948-1951.
19. Berk DR, Crone K, &, Bayliss SJ, (2009) AEC syndrome caused by a novel p63 mutation and demonstrating erythroderma followed by extensive depigmentation. Pediatr Dermatol 26, 617-618.
20. Ghioni P, Bolognese F, Duijf PH, Van Bokhoven H, Mantovani R, &, Guerrini L, (2002) Complex transcriptional effects of p63 isoforms: identification of novel activation and repression domains. Mol Cell Biol 22, 8659-8668. (Pubitemid 35397180)
21. Cicero DO, Falconi M, Candi E, Mele S, Cadot B, Di Venere A, Rufini S, Melino G, &, Desideri A, (2006) NMR structure of the p63 SAM domain and dynamical properties of G534V and T537P pathological mutants, identified in the AEC syndrome. Cell Biochem Biophys 44, 475-489. (Pubitemid 43780403)
22. Wang WK, Bycroft M, Foster NW, Buckle AM, Fersht AR, &, Chen YW, (2001) Structure of the C-terminal sterile alpha-motif (SAM) domain of human p73 alpha. Acta Crystallogr D Biol Crystallogr 57, 545-551. (Pubitemid 32296030)
23. Leone M, Cellitti J, &, Pellecchia M, (2008) NMR studies of a heterotypic Sam-Sam domain association: the interaction between the lipid phosphatase Ship2 and the EphA2 receptor. Biochemistry 47, 12721-12728.
24. Green JB, Gardner CD, Wharton RP, &, Aggarwal AK, (2003) RNA recognition via the SAM domain of Smaug. Mol Cell 11, 1537-1548. (Pubitemid 36776540)
25. Aviv T, Lin Z, Lau S, Rendl LM, Sicheri F, &, Smibert CA, (2003) The RNA-binding SAM domain of Smaug defines a new family of post-transcriptional regulators. Nat Struct Biol 10, 614-621. (Pubitemid 36944714)
26. Barrera FN, Poveda JA, González-Ros JM, &, Neira JL, (2003) Binding of the C-terminal sterile motif (SAM) domain of human p73 to lipid membranes. J Biol Chem 278, 46878-46885. (Pubitemid 37452269)
27. Bullock AN, &, Fersht AR, (2001) Rescuing the function of mutant p53. Nat Rev Cancer 1, 68-76. (Pubitemid 33741882)
28. Dodd RB, Allen MD, Brown SE, Sanderson CM, Duncan LM, Lehner PJ, Bycroft M, &, Read RJ, (2004) Solution structure of the Kaposi's sarcoma-associated herpesvirus K3 N-terminal domain reveals a novel E2-binding C4HC3-type RING domain. J Biol Chem 279, 53840-53847. (Pubitemid 40051893)
29. Neidhardt FC, Bloch PL, &, Smith DF, (1974) Culture medium for enterobacteria. J Bacteriol 119, 736-747.
30. Bax A, Ikura M, Kay LE, Barbato G, &, Spera S, (1991) Multidimensional triple resonance NMR spectroscopy of isotopically uniformly enriched proteins: a powerful new strategy for structure determination. Ciba Found Symp 161, 108-119; discussion 119-135.
31. Englander SW, &, Wand AJ, (1987) Main-chain-directed strategy for the assignment of 1H NMR spectra of proteins. Biochemistry 26, 5953-5958.
32. Cornilescu G, Delaglio F, &, Bax A, (1999) Protein backbone angle restraints from searching a database for chemical shift and sequence homology. J Biomol NMR 13, 289-302. (Pubitemid 29143535)
33. Neri D, Szyperski T, Otting G, Senn H, &, Wüthrich K, (1989) Stereospecific nuclear magnetic resonance assignments of the methyl groups of valine and leucine in the DNA-binding domain of the 434 repressor by biosynthetically directed fractional 13C labeling. Biochemistry 28, 7510-7516. (Pubitemid 19238098)
34. Brunger AT, (2007) Version 1.2 of the crystallography and NMR system. Nat Protoc 2, 2728-2733.
35. CCP4 (1994) The CCP4 suite: programs for protein crystallography. Acta Crystallogr D Biol Crystallogr 50, 760-763.
36. McCoy AJ, (2007) Solving structures of protein complexes by molecular replacement with Phaser. Acta Crystallogr D Biol Crystallogr 63, 32-41.
37. Adams PD, Grosse-Kunstleve RW, Hung LW, Ioerger TR, McCoy AJ, Moriarty NW, Read RJ, Sacchettini JC, Sauter NK, &, Terwilliger TC, (2002) PHENIX: building new software for automated crystallographic structure determination. Acta Crystallogr D Biol Crystallogr 58, 1948-1954. (Pubitemid 35337293)
38. Turk D, (1996) MAIN 96: An interactive software for density modifications, model building, structure refinement and analysis. Proceedings from the 1996 Meeting of the International Union of Crystallography Macromolecular Computing School, 1996.
39. Kraulis PJ, Domaille PJ, Campbell-Burk SL, Van Aken T, &, Laue ED, (1994) Solution structure and dynamics of ras p21.GDP determined by heteronuclear three- and four-dimensional NMR spectroscopy. Biochemistry 33, 3515-3531. (Pubitemid 24115999)