Modifier genes and non-genetic factors reshape anatomical deficits in Zfp423-deficient mice

Human Molecular Genetics

Volumn 20, Issue 19, 2011, Pages 3822-3830

  Alcaraz, Wendy A ^a,c,d   Chen, Edward ^b,f   Valdes, Phoebe ^e   Kim, Eunnie ^b   Lo, Yuan Hung ^b   Vo, Jennifer ^b   Hamilton, Bruce A ^a,c,d  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^e UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^f TAIPEI MEDICAL UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; ZINC FINGER PROTEIN 423;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CEREBELLUM HYPOPLASIA; CONTROLLED STUDY; EMBRYO; FEMALE; GENE LOCUS; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HEREDITY; MALE; MOUSE; NONHUMAN; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; QUANTITATIVE TRAIT LOCUS MAPPING; RHOMBENCEPHALON; SINGLE NUCLEOTIDE POLYMORPHISM; STOCHASTIC MODEL;

ANIMALS; CEREBELLAR DISEASES; DISEASE MODELS, ANIMAL; DNA-BINDING PROTEINS; ENVIRONMENT; FEMALE; GENES, MODIFIER; HUMANS; MALE; MICE; MICE, INBRED BALB C; MICE, INBRED C3H; MICE, INBRED C57BL; MICE, KNOCKOUT; TRANSCRIPTION FACTORS;

MUS;

EID: 80052716149     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr300     Document Type: Article

References (45)

1. Sillitoe, R.V. and Joyner, A.L. (2007) Morphology, molecular codes, and circuitry produce the three-dimensional complexity of the cerebellum. Ann. Rev. Cell Dev. Biol., 23, 549-577.
2. Herrup, K., Murcia, C., Gulden, F., Kuemerle, B. and Bilovocky, N. (2005) The genetics of early cerebellar development: networks not pathways. Prog. Brain Res., 148, 21-27.
3. Wang, V.Y. and Zoghbi, H.Y. (2001) Genetic regulation of cerebellar development. Nat. Rev. Neurosci., 2, 484-491.
4. Goldowitz, D. and Hamre, K. (1998) The cells and molecules that make a cerebellum. Trends Neurosci., 21, 375-382.
5. Ten Donkelaar, H.J. and Lammens, M. (2009) Development of the human cerebellum and its disorders. Clin. Perinatol., 36, 513-530.
6. Abrahams, B.S. and Geschwind, D.H. (2010) Connecting genes to brain in the autism spectrum disorders. Arch. Neurol., 67, 395-399.
7. Millen, K.J. and Gleeson, J.G. (2008) Cerebellar development and disease. Curr. Opin. Neurobiol., 18, 12-19.
8. Louie, C.M., Caridi, G., Lopes, V.S., Brancati, F., Kispert, A., Lancaster, M.A., Schlossman, A.M., Otto, E.A., Leitges, M., Grone, H.J. et al. (2010) AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat. Genet., 42, 175-180.
9. Floyd, J.A., Gold, D.A., Concepcion, D., Poon, T.H., Wang, X., Keithley, E., Chen, D., Ward, E.J., Chinn, S.B., Friedman, R.A. et al. (2003) A natural allele of Nxf1 suppresses retrovirus insertional mutations. Nat. Genet., 35, 221-228.
10. Concepcion, D., Flores-Garcia, L. and Hamilton, B.A. (2009) Multipotent genetic suppression of retrotransposon-induced mutations by Nxf1 through fine-tuning of alternative splicing. PLoS Genet., 5, e1000484.
11. Nadeau, J.H. (2003) Modifier genes and protective alleles in humans and mice. Curr. Opin. Genet. Dev., 13, 290-295.
12. Nadeau, J.H. and Topol, E.J. (2006) The genetics of health. Nat. Genet., 38, 1095-1098.
13. Buchner, D.A., Trudeau, M. and Meisler, M.H. (2003) SCNM1, a putative RNA splicing factor that modifies disease severity in mice. Science, 301, 967-969.
14. Alcaraz, W.A., Gold, D.A., Raponi, E., Gent, P.M., Concepcion, D. and Hamilton, B.A. (2006) Zfp423 controls proliferation and differentiation of neural precursors in cerebellar vermis formation. Proc. Natl Acad. Sci. USA, 103, 19424-19429.
15. Cheng, L.E., Zhang, J. and Reed, R.R. (2007) The transcription factor Zfp423/OAZ is required for cerebellar development and CNS midline patterning. Dev. Biol., 307, 43-52.
16. Warming, S., Rachel, R.A., Jenkins, N.A. and Copeland, N.G. (2006) Zfp423 is required for normal cerebellar development. Mol. Cell Biol., 26, 6913-6922.
17. Cheng, L.E. and Reed, R.R. (2007) Zfp423/OAZ participates in a developmental switch during olfactory neurogenesis. Neuron, 54, 547-557.
18. Gupta, R.K., Arany, Z., Seale, P., Mepani, R.J., Ye, L., Conroe, H.M., Roby, Y.A., Kulaga, H., Reed, R.R. and Spiegelman, B.M. (2010) Transcriptional control of preadipocyte determination by Zfp423. Nature, 464, 619-623.
19. Tsai, R.Y. and Reed, R.R. (1997) Cloning and functional characterization of Roaz, a zinc finger protein that interacts with O/E-1 to regulate gene expression: implications for olfactory neuronal development. J. Neurosci., 17, 4159-4169.
20. Wang, S.S., Lewcock, J.W., Feinstein, P., Mombaerts, P. and Reed, R.R. (2004) Genetic disruptions of O/E2 and O/E3 genes reveal involvement in olfactory receptor neuron projection. Development, 131, 1377-1388.
21. Garcia-Dominguez, M., Poquet, C., Garel, S. and Charnay, P. (2003) Ebf gene function is required for coupling neuronal differentiation and cell cycle exit. Development, 130, 6013-6025.
22. Hata, A., Seoane, J., Lagna, G., Montalvo, E., Hemmati-Brivanlou, A. and Massague, J. (2000) OAZ uses distinct DNA- and protein-binding zinc fingers in separate BMP-Smad and Olf signaling pathways. Cell, 100, 229-240.
23. Ku, M., Howard, S., Ni, W., Lagna, G. and Hata, A. (2006) OAZ regulates bone morphogenetic protein signaling through Smad6 activation. J. Biol. Chem., 281, 5277-5287.
24. Masserdotti, G., Badaloni, A., Green, Y.S., Croci, L., Barili, V., Bergamini, G., Vetter, M.L. and Consalez, G.G. (2010) ZFP423 coordinates Notch and bone morphogenetic protein signaling, selectively up-regulating Hes5 gene expression. J. Biol. Chem., 285, 30814-30824.
25. Huang, S., Laoukili, J., Epping, M.T., Koster, J., Holzel, M., Westerman, B.A., Nijkamp, W., Hata, A., Asgharzadeh, S., Seeger, R.C. et al. (2009) ZNF423 is critically required for retinoic acid-induced differentiation and is a marker of neuroblastoma outcome. Cancer Cell, 15, 328-340.
26. Broman, K.W., Wu, H., Sen, S. and Churchill, G.A. (2003) R/qtl: QTL mapping in experimental crosses. Bioinformatics, 19, 889-890.
27. Sen, S. and Churchill, G.A. (2001) A statistical framework for quantitative trait mapping. Genetics, 159, 371-387.
28. Lander, E. and Kruglyak, L. (1995) Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat. Genet., 11, 241-247.
29. Famulski, J.K., Trivedi, N., Howell, D., Yang, Y., Tong, Y., Gilbertson, R. and Solecki, D.J. (2010) Siah regulation of Pard3A controls neuronal cell adhesion during germinal zone exit. Science, 330, 1834-1838.
30. Varshavsky, A. (1997) The N-end rule pathway of protein degradation. Genes Cells, 2, 13-28.
31. Saito, J., Toriumi, S., Awano, K., Ichijo, H., Sasaki, K., Kobayashi, T. and Tamura, S. (2007) Regulation of apoptosis signal-regulating kinase 1 by protein phosphatase 2Cepsilon. Biochem. J., 405, 591-596.
32. Banga, S.S., Peng, L., Dasgupta, T., Palejwala, V. and Ozer, H.L. (2009) PHF10 is required for cell proliferation in normal and SV40-immortalized human fibroblast cells. Cytogenet. Genome Res., 126, 227-242.
33. Wang, X., Goode, E.L., Fredericksen, Z.S., Vierkant, R.A., Pankratz, V.S., Liu-Mares, W., Rider, D.N., Vachon, C.M., Cerhan, J.R., Olson, J.E. et al. (2008) Association of genetic variation in genes implicated in the beta-catenin destruction complex with risk of breast cancer. Cancer Epidemiol. Biomarkers Prev., 17, 2101-2108.
34. Lu, J.P., Zhang, J., Kim, K., Case, T.C., Matusik, R.J., Chen, Y.H., Wolfe, M., Nopparat, J. and Lu, Q. (2010) Human homolog of Drosophila Hairy and enhancer of split 1, Hes1, negatively regulates delta-catenin (CTNND2) expression in cooperation with E2F1 in prostate cancer. Mol. Cancer, 9, 304.
35. Sgaier, S.K., Millet, S., Villanueva, M.P., Berenshteyn, F., Song, C. and Joyner, A.L. (2005) Morphogenetic and cellular movements that shape the mouse cerebellum; insights from genetic fate mapping. Neuron, 45, 27-40.
36. Blacque, O.E., Reardon, M.J., Li, C., McCarthy, J., Mahjoub, M.R., Ansley, S.J., Badano, J.L., Mah, A.K., Beales, P.L., Davidson, W.S. et al. (2004) Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes Dev., 18, 1630-1642.
37. Marion, V., Stoetzel, C., Schlicht, D., Messaddeq, N., Koch, M., Flori, E., Danse, J.M., Mandel, J.L. and Dollfus, H. (2009) Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Proc. Natl Acad. Sci. USA, 106, 1820-1825.
38. Corrales, J.D., Blaess, S., Mahoney, E.M. and Joyner, A.L. (2006) The level of sonic hedgehog signaling regulates the complexity of cerebellar foliation. Development, 133, 1811-1821.
39. Aruga, J., Minowa, O., Yaginuma, H., Kuno, J., Nagai, T., Noda, T. and Mikoshiba, K. (1998) Mouse Zic1 is involved in cerebellar development. J. Neurosci., 18, 284-293.
40. Doughty, M.L., Delhaye-Bouchaud, N. and Mariani, J. (1998) Quantitative analysis of cerebellar lobulation in normal and agranular rats. J. Comp. Neurol., 399, 306-320.
41. Kile, B.T., Hentges, K.E., Clark, A.T., Nakamura, H., Salinger, A.P., Liu, B., Box, N., Stockton, D.W., Johnson, R.L., Behringer, R.R. et al. (2003) Functional genetic analysis of mouse chromosome 11. Nature, 425, 81-86.
42. Dietrich, W.F., Miller, J., Steen, R., Merchant, M.A., Damron-Boles, D., Husain, Z., Dredge, R., Daly, M.J., Ingalls, K.A. and O'Connor, T.J. (1996) A comprehensive genetic map of the mouse genome. Nature, 380, 149-152.
43. Stylianou, I.M., Tsaih, S.W., DiPetrillo, K., Ishimori, N., Li, R., Paigen, B. and Churchill, G. (2006) Complex genetic architecture revealed by analysis of high-density lipoprotein cholesterol in chromosome substitution strains and F2 crosses. Genetics, 174, 999-1007.
44. Broman, K.W. and Sen, S. (2009) A Guide to QTL Mapping with R/qtl. Springer, New York.
45. Benjamini, Y. and Hochberg, Y. (1995) Controlling the false discovery rate-a practical and powerful approach to multiple testing. J. Roy. Stat. Soc. B Met., 57, 289-300.