Loss of p53 in quaking viable mice leads to Purkinje cell defects and reduced survival

Scientific Reports

Volumn 1, Issue , 2011, Pages

  Gavino, Christina ^a   Richard, Stéphane ^a  

^a MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

PRIMER DNA; PROTEIN P53;

ANIMAL; ARTICLE; BRAIN TUMOR; GENETICS; GENOMIC INSTABILITY; GLIOBLASTOMA; IMMUNOHISTOCHEMISTRY; MOUSE; MOUSE MUTANT; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHYSIOLOGY; POLYMERASE CHAIN REACTION; PURKINJE CELL; SURVIVAL;

ANIMALS; BASE SEQUENCE; BRAIN NEOPLASMS; DNA PRIMERS; GENOMIC INSTABILITY; GLIOBLASTOMA; IMMUNOHISTOCHEMISTRY; MICE; MICE, KNOCKOUT; MICE, QUAKING; MUTATION; POLYMERASE CHAIN REACTION; PURKINJE CELLS; SURVIVAL ANALYSIS; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84860127077     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep00084     Document Type: Article

References (51)

1. Sidman, R. L., Dickie, M. M. & Appel, S. H. Mutant mice (quaking and jimpy) with deficient myelination in the central nervous system. Science 144, 309-311 (1964).
2. Lockhart, P. J., O'Farrell, C. A. & Farrer, M. J. It's a double knock-out! The quaking mouse is a spontaneous deletion of parkin and parkin co-regulated gene (PACRG). Mov. Disord. 19, 101-104 (2004). (Pubitemid 38559628)
3. Hardy, R. J. et al. Neural cell type-specific expression of QKI proteins is altered in the quaking viable mutant mice. J. Neuroscience 16, 7941-7949 (1996). (Pubitemid 26405057)
4. Ebersole, T. A., Chen, Q., Justice, M. J. & Artzt, K. The quaking gene product necessary in embryogenesis and myelination combines features of RNA binding and signal transduction proteins. Nat Genet 12, 260-265 (1996). (Pubitemid 26080084)
5. Kondo, T. et al. Genomic organization and expression analysis of the mouse qkI locus. Mammalian Genome 10, 662-669 (1999). (Pubitemid 29393670)
6. Larocque, D. et al. Nuclear retention of MBP mRNAs in the Quaking viable mice. Neuron 36, 815-829 (2002). (Pubitemid 35447854)
7. Larocque, D. et al. Protection of the p27KIP1 mRNA by quaking RNA binding proteins promotes oligodendrocyte differentiation. Nat. Neurosci 8, 27-33 (2005). (Pubitemid 41236728)
8. Wu, J. I., Reed, R. B., Grabowski, P. J. & Artzt, K. Function of quaking in myelination: regulation of alternative splicing. Proc. Natl. Acad. Sci. USA 99, 4233-4238 (2002). (Pubitemid 34285969)
9. Zhang, Y. et al. Tyrosine phosphorylation of QKI mediates developmental signals to regulate mRNA metabolism. EMBO J. 22, 1801-1810 (2003). (Pubitemid 36460137)
10. Zhao, L., Mandler, M. D., Yi, H. & Feng, Y. Quaking I controls a unique cytoplasmic pathway that regulates alternative splicing of myelin-associated glycoprotein. Proc Natl Acad Sci USA 107, 19061-19066, doi:1007487107 [pii]10. 1073/pnas. 1007487107 (2010).
11. Doukhanine, E., Gavino, C., Haines, J. D., Almazan, G. & Richard, S. The QKI-6 RNAbinding protein regulates actin-interacting protein-1mRNAstability during oligodendrocyte differentiation. Mol Biol Cell 21, 3029-3040, doi:E10-04-0305 [pii] 10. 1091/mbc. E10-04-0305 (2010).
12. Li, Z., Zhang, Y., Li, D. & Feng, Y. Destabilization and mislocalization of the myelin basic protein mRNAs in quaking dysmyelination lacking the Qk1 RNA-binding proteins. J. Neurosci. 20, 4944-4953 (2000). (Pubitemid 30421698)
13. Zearfoss, N. R., Clingman, C. C., Farley, B. M., McCoig, L. M. & Ryder, S. P. Quaking regulates Hnrnpa1 expression through its 3' UTR in oligodendrocyte precursor cells. PLoS Genet 7, e1001269, doi:10. 1371/journal. pgen. 1001269 (2011).
14. Larocque, D. et al. The QKI-6 and QKI-7 RNA binding proteins block proliferation and promote Schwann cell myelination. PLoS ONE 4, e5867 (2009).
15. Zhao, L., Tian, D., Xia, M., Macklin, W. B. & Feng, Y. Rescuing qkV dysmyelination by a single isoform of the selective RNA-binding protein QKI. J Neurosci 26, 11278-11286 (2006). (Pubitemid 44772157)
16. Wilson, G. R. et al. Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse. Hum Mol Genet 19, 1593-1602, doi:ddq031 [pii]10. 1093/hmg/ddq031 (2010).
17. Lorenzetti, D., Bishop, C. E. & Justice, M. J. Deletion of the Parkin coregulated gene causes male sterility in the quaking(viable) mouse mutant. Proc Natl Acad Sci USA 101, 8402-8407, doi:10. 1073/pnas. 04018321010401832101 [pii] (2004). (Pubitemid 38736587)
18. Gavino, C. & Richard, S. Patched1 haploinsufficiency impairs ependymal cilia function of the quaking viable mice, leading to fatal hydrocephalus. Mol Cell Neurosci, doi:S1044-7431(11)00067-4 [pii]10. 1016/j. mcn. 2011. 03. 004 (2011).
19. Cesari, R. et al. Parkin, a gene implicated in autosomal recessive juvenile parkinsonism, is a candidate tumor suppressor gene on chromosome 6q25-q27. Proc Natl Acad Sci USA 100, 5956-5961, doi:10. 1073/pnas. 09312621000931262100 [pii] (2003). (Pubitemid 36581860)
20. Smith, D. I., Zhu, Y., McAvoy, S. & Kuhn, R. Common fragile sites, extremely large genes, neural development and cancer. Cancer Lett 232, 48-57, doi:S0304-3835(05)00823-2 [pii]10. 1016/j. canlet. 2005. 06. 049 (2006). (Pubitemid 43053933)
21. Mulholland, P. J. et al. Genomic profiling identifies discrete deletions associated with translocations in glioblastoma multiforme. Cell Cycle 5, 783-791 (2006).
22. Ichimura, K. et al. Small regions of overlapping deletions on 6q26 in human astrocytic tumours identified using chromosome 6 tile path array-CGH. Oncogene 25, 1261-1271 (2006).
23. Li, Z. Z. et al. Expression of Hqk encoding a KH RNA binding protein is altered in human glioma. Jpn J Cancer Res 93, 167-177. (2002). (Pubitemid 34223760)
24. Jones, A. R. & Schedl, T. Mutations in GLD-1, a female germ cell-specific tumor suppressor gene in C. elegans, affect a conserved domain also found in Sam68. Genes & Dev. 9, 1491-1504 (1995).
25. Schumacher, B. et al. Translational Repression of C. elegans p53 by GLD-1 Regulates DNA Damage-Induced Apoptosis. Cell 120, 357-368 (2005). (Pubitemid 40222430)
26. Yang, G. et al. RNA-binding protein quaking, a critical regulator of colon epithelial differentiation and a suppressor of colon cancer. Gastroenterology 138, 231-240 e231-235, doi:S0016-5085(09)01392-4 [pii]10. 1053/j. gastro. 2009. 08. 001 (2010).
27. Hollstein, M., Sidransky, D., Vogelstein, B. & Harris, C. C. p53 mutations in human cancers. Science 253, 49-53 (1991). (Pubitemid 21917115)
28. Bougeard, G. et al. Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene. Oncogene 22, 840-846, doi:10. 1038/sj. onc. 12061551206155 [pii] (2003). (Pubitemid 36255819)
29. Nigro, J. M. et al. Mutations in the p53 gene occur in diverse human tumour types. Nature 342, 705-708, doi:10. 1038/342705a0 (1989). (Pubitemid 20001591)
30. Nozaki, M. et al. Roles of the functional loss of p53 and other genes in astrocytoma tumorigenesis and progression. Neuro Oncol 1, 124-137 (1999).
31. Jacks, T. et al. Tumor spectrum analysis in p53-mutant mice. Curr Biol 4, 1-7 (1994).
32. Huse, J. T. & Holland, E. C. Genetically engineered mouse models of brain cancer and the promise of preclinical testing. Brain Pathol 19, 132-143, doi:BPA234 [pii] 10. 1111/j. 1750-3639. 2008. 00234. x (2009).
33. Donehower, L. A. et al. Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours. Nature 356, 215-221 (1992).
34. Reilly, K. M., Loisel, D. A., Bronson, R. T., McLaughlin, M. E. & Jacks, T. Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects. Nat Genet 26, 109-113, doi:10. 1038/79075 (2000).
35. Lorenzetti, D. et al. The neurological mutant quaking(viable) is Parkin deficient. Mamm Genome 15, 210-217 (2004). (Pubitemid 38293812)
36. Bo, L. et al. Endocytic depletion of L-MAG from CNS myelin in quaking mice. J Cell Biol 131, 1811-1820 (1995). (Pubitemid 26007976)
37. Taylor, S. M., Bennett, G. D., Abbott, L. C. & Finnell, R. H. Seizure control following administration of anticonvulsant drugs in the quaking mouse. Eur J Pharmacol 118, 163-170, doi:0014-2999(85)90675-2 [pii] (1985). (Pubitemid 16189584)
38. Gioanni, Y., Gioanni, H. & Mitrovic, N. Seizures can be triggered by stimulating non-cortical structures in the quaking mutant mouse. Epilepsy Res 9, 19-31, doi:0920-1211(91)90043-F [pii] (1991).
39. Van Loo, P. L. et al. Long-term effects of husbandry procedures on stress-related parameters in male mice of two strains. Lab Anim 38, 169-177, doi:10. 1258/002367704322968858 (2004). (Pubitemid 38586430)
40. Suzuki, K. & Zagoren, J. C. Focal axonal swelling in cerebellum of quaking mouse: light and electron microscopic studies. Brain Res 85, 38-43, doi:0006-8993(75)91001-X [pii] (1975).
41. Pilotte, J., Larocque, D. & Richard, S. Nuclear translocation controlled by alternatively spliced isoforms inactivates the QUAKINGapoptotic inducer. Genes & Dev. 15, 845-858 (2001). (Pubitemid 32295066)
42. Chen, T. & Richard, S. Structure-function analysis of Qk1: a lethal point mutation in mouse quaking prevents homodimerization. Mol Cell Biol 18, 4863-4871. (1998). (Pubitemid 28343070)
43. Poppleton, H. & Gilbertson, R. J. Stem cells of ependymoma. Br J Cancer 96, 6-10, doi:6603519 [pii]10. 1038/sj. bjc. 6603519 (2007). (Pubitemid 46094631)
44. Kleihues, P., Schauble, B., zur Hausen, A., Esteve, J. & Ohgaki, H. Tumors associated with p53 germline mutations: a synopsis of 91 families. Am J Pathol 150, 1-13 (1997). (Pubitemid 27027090)
45. Thompson, M. C. et al. Genomics identifies medulloblastoma subgroups that are enriched for specific genetic alterations. J Clin Oncol 24, 1924-1931, doi:JCO. 2005. 04. 4974 [pii]10. 1200/JCO. 2005. 04. 4974 (2006). (Pubitemid 46638992)
46. Hardy, R. J. QKI expression is regulated during neuron-glial cell fate decisions. J Neurosci Res 54, 46-57. (1998). (Pubitemid 28447188)
47. Galarneau, A. & Richard, S. Target RNA motif and target mRNAs of the Quaking STAR protein. Nat Struct Mol Biol 12, 691-698 (2005). (Pubitemid 43086275)
48. Trapp, B. D. et al. Axonal transection in the lesions of multiple sclerosis. N Engl J Med 338, 278-285, doi:10. 1056/NEJM199801293380502 (1998). (Pubitemid 28065253)
49. Raine, C. S. & Cross, A. H. Axonal dystrophy as a consequence of long-term demyelination. Lab Invest 60, 714-725 (1989). (Pubitemid 19154520)
50. Vaillant, C. & Monard, D. SHH pathway and cerebellar development. Cerebellum 8, 291-301, doi:10. 1007/s12311-009-0094-8 (2009).
51. Lim, J. et al. A protein-protein interaction network for human inherited ataxias and disorders of purkinje cell degeneration. Cell 125, 801-814 (2006). (Pubitemid 43732348)