Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function

Nature Medicine

Volumn 14, Issue 2, 2008, Pages 125-133

  Jones, Natalie C ^a   Lynn, Megan L ^a   Gaudenz, Karin ^a   Sakai, Daisuke ^a   Aoto, Kazushi ^a   Rey, Jean Phillipe ^a   Glynn, Earl F ^a   Ellington, Lacey ^a   Du, Chunying ^a   Dixon, Jill ^b   Dixon, Michael J ^b,c   Trainor, Paul A ^a  

^a STOWERS INSTITUTE FOR MEDICAL RESEARCH   (United States)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN G1; PIFITHRIN ALPHA; PROTEIN P53;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; BIOGENESIS; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; EMBRYO; FEMALE; GENE; GENE FUNCTION; GENE INACTIVATION; GENE MUTATION; GENETIC ASSOCIATION; LIFESPAN; MALE; MANDIBULOFACIAL DYSOSTOSIS; MOUSE; NEURAL CREST; NEUROEPITHELIUM; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; RIBOSOME; TCOF1 GENE;

ANIMALS; APOPTOSIS; BODY PATTERNING; BONE AND BONES; CELL CYCLE; CHICKENS; CYCLINS; EMBRYO, MAMMALIAN; FEMALE; HUMANS; MALE; MANDIBULOFACIAL DYSOSTOSIS; MICE; MICE, INBRED C57BL; NEURAL CREST; NEUROEPITHELIAL CELLS; NUCLEAR PROTEINS; PHOSPHOPROTEINS; RIBOSOMES; TRANS-ACTIVATION (GENETICS); TUMOR SUPPRESSOR PROTEIN P53;

EID: 38949170601     PISSN: 10788956     EISSN: 1546170X     Source Type: Journal    
DOI: 10.1038/nm1725     Document Type: Article

References (37)

1. Phelps, P.D., Poswillo, D. & Lloyd, G.A. The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome). Clin. Otolaryngol. 6, 15-28 (1981).
2. Rovin, S., Dachi, S.F., Borenstein, D.B. & Cotter, W.B. Mandibulofacial dysostosis, a familial study of five generations. J. Pediatr. 65, 215-221 (1964).
3. Fazen, L.E., Elmore, J. & Nadler, H.L. Mandibulo-facial dysostosis. (Treacher-Collins syndrome). Am. J. Dis. Child. 113, 405-410 (1967).
4. Edwards, S.J., Gladwin, A.J. & Dixon, M.J. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Am. J. Hum. Genet. 60, 515-524 (1997).
5. Gladwin, A.J. et al. Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. Hum. Mol. Genet. 5, 1533-1538 (1996).
6. The Treacher Collins Syndrome Collaborative Group. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat. Genet. 12, 130-136 (1996).
7. Wise, C.A. et al. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Proc. Natl. Acad. Sci. USA 94, 3110-3115 (1997).
8. Meier, U.T. & Blobel, G. Nopp140 shuttles on tracks between nucleolus and cytoplasm. Cell 70, 127-138 (1992).
9. Valdez, B.C., Henning, D., So, R.B., Dixon, J. & Dixon, M.J. The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor. Proc. Natl. Acad. Sci. USA 101, 10709-10714 (2004).
10. Hayano, T. et al. Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome. J. Biol. Chem. 278, 34309-34319 (2003).
11. Dixon, J. et al. Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proc. Natl. Acad. Sci. USA 103, 13403-13408 (2006).
12. Zhao, L. et al. Cyclin G1 has growth inhibitory activity linked to the ARF-Mdm2-p53 and pRb tumor suppressor pathways. Mol. Cancer Res. 1, 195-206 (2003).
13. Tomasini, R. et al. TP53INP1s and homeodomain-interacting protein kinase-2 (HIPK2) are partners in regulating p53 activity. J. Biol. Chem. 278, 37722-37729 (2003).
14. Aleo, E., Henderson, C.J., Fontanini, A., Solazzo, B. & Brancolini, C. Identification of new compounds that trigger apoptosome-independent caspase activation and apoptosis. Cancer Res. 66, 9235-9244 (2006).
15. Reczek, E.E., Flores, E.R., Tsay, A.S., Attardi, L.D. & Jacks, T. Multiple response elements and differential p53 binding control Perp expression during apoptosis. Mol. Cancer Res. 1, 1048-1057 (2003).
16. Mendez-Vidal, C., Wilhelm, M.T., Hellborg, F., Qian, W. & Wiman, K.G. The p53-induced mouse zinc finger protein wig-1 binds double-stranded RNA with high affinity. Nucleic Acids Res. 30, 1991-1996 (2002).
17. Levine, A.J. p53, the cellular gatekeeper for growth and division. Cell 88, 323-331 (1997).
18. Zaika, A., Marchenko, N. & Moll, U.M. Cytoplasmically 'sequestered' wild type p53 protein is resistant to Mdm2-mediated degradation. J. Biol. Chem. 274, 27474-27480 (1999).
19. Burstyn-Cohen, T. & Kalcheim, C. Association between the cell cycle and neural crest delamination through specific regulation of G1/S transition. Dev. Cell 3, 383-395 (2002).
20. Komarov, P.G. et al. A chemical inhibitor of p53 that protects mice from the side effects of cancer therapy. Science 285, 1733-1737 (1999).
21. Zhai, W. & Comai, L. Repression of RNA polymerase I transcription by the tumor suppressor p53. Mol. Cell. Biol. 20, 5930-5938 (2000).
22. Donehower, L.A. et al. Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours. Nature 356, 215-221 (1992).
23. Ihrie, R.A. et al. Perp is a p63-regulated gene essential for epithelial integrity. Cell 120, 843-856 (2005).
24. Jensen, M.R. et al. Reduced hepatic tumor incidence in cyclin G1-deficient mice. Hepatology 37, 862-870 (2003).
25. Kimura, S.H. & Nojima, H. Cyclin G1 associates with MDM2 and regulates accumulation and degradation of p53 protein. Genes Cells 7, 869-880 (2002).
26. Dixon, J., Brakebusch, C., Fassler, R. & Dixon, M.J. Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome. Hum. Mol. Genet. 9, 1473-1480 (2000).
27. Nonn, L., Williams, R.R., Erickson, R.P. & Powis, G. The absence of mitochondrial thioredoxin 2 causes massive apoptosis, exencephaly, and early embryonic lethality in homozygous mice. Mol. Cell. Biol. 23, 916-922 (2003).
28. Pani, L., Horal, M. & Loeken, M.R. Rescue of neural tube defects in Pax-3-deficient embryos by p53 loss of function: implications for Pax-3-dependent development and tumorigenesis. Genes Dev. 16, 676-680 (2002).
29. Ruggero, D. & Pandolfi, P.P. Does the ribosome translate cancer? Nat. Rev. Cancer 3, 179-192 (2003).
30. Garcia-Cao, I. et al. "Super p53" mice exhibit enhanced DNA damage response, are tumor resistant and age normally. EMBO J. 21, 6225-6235 (2002).
31. Kaufman, M.H. The Atlas of Mouse Development, 507 (Academic Press, London, 1992).
32. Nagy, A., Gertsenstein, M., Vintersten, K. & Behringer, R.R. Manipulating the Mouse Embryo, Ch.16 (Cold Spring Harbor Laboratory, Cold Spring Harbor, 2003).
33. Wilson, C.L. & Miller, C.J. Simpleaffy: a BioConductor package for Affymetrix Quality Control and data analysis. Bioinformatics 21, 3683-3685 (2005).
34. R Development Core Team. A language and environment for statistical computing. The R Project for Statistical Computing. 〈http://www.R-project. org〉 (2006).
35. T method. Methods 25, 402-408 (2001).
36. Krull, C.E. A primer on using in ovo electroporation to analyze gene function. Dev. Dyn. 229, 433-439 (2004).
37. Horne, M.C. et al. Cyclin G1 and cyclin G2 comprise a new family of cyclins with contrasting tissue-specific and cell cycle-regulated expression. J. Biol. Chem. 271, 6050-6061 (1996).