Abstract
Disturbances in the general mRNA metabolism have been recognized as a major defect in a growing number of hereditary human diseases. One prominent example of this disease group is Retinitis pigmentosa (RP), characterized by selective loss of photoreceptor cells. RP can be caused by dominant mutations in key factors of the pre-mRNA processing spliceosome. In these cases, the complex events leading to the RP phenotype can only insufficiently be analyzed in rodents or other model organisms due to the essential functions of these splice factors. Here we introduce the zebrafish Danio rerio as a valuable vertebrate model system to study RP and related diseases.
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References
Hartong DT, Berson EL, Dryja TP (2006) Retinitis pigmentosa. Lancet 368(9549):1795–1809
Daiger SP, Bowne SJ, Sullivan LS (2007) Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol 125(2):151–158
Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS (2002) Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet 11(1):87–92
McKie AB, McHale JC, Keen TJ, Tarttelin EE, Goliath R, van Lith-Verhoeven JJ, Greenberg J, Ramesar RS, Hoyng CB, Cremers FP, Mackey DA, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF (2001) Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum Mol Genet 10(15):1555–1562
Vithana EN, Abu-Safieh L, Allen MJ, Carey A, Papaioannou M, Chakarova C, Al-Maghtheh M, Ebenezer ND, Willis C, Moore AT, Bird AC, Hunt DM, Bhattacharya SS (2001) A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell 8(2):375–381
Liu S, Rauhut R, Vornlocher HP, Luhrmann R (2006) The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP. RNA 12(7):1418–1430
Wahl MC, Will CL, Luhrmann R (2009) The spliceosome: design principles of a dynamic RNP machine. Cell 136(4):701–718
Nasevicius A, Ekker SC (2000) Effective targeted gene ‘knockdown’ in zebrafish. Nat Genet 26(2):216–220
Bilotta J, Saszik S (2001) The zebrafish as a model visual system. Int J Dev Neurosci 19(7):621–629
Leung YF, Dowling JE (2005) Gene expression profiling of zebrafish embryonic retina. Zebrafish 2(4):269–283
Linder B, Dill H, Hirmer A, Brocher J, Lee GP, Mathavan S, Bolz HJ, Winkler C, Laggerbauer B, Fischer U (2011) Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa. Hum Mol Genet 20(2):368–377
Kimmel CB, Ballard WW, Kimmel SR, Ullmann B, Schilling TF (1995) Stages of embryonic development of the zebrafish. Dev Dyn 203(3):253–310
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Dill, H., Linder, B., Hirmer, A., Fischer, U. (2012). Analysis of Photoreceptor Degeneration in the Zebrafish Danio rerio . In: Weber, B., LANGMANN, T. (eds) Retinal Degeneration. Methods in Molecular Biology, vol 935. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-62703-080-9_9
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DOI: https://doi.org/10.1007/978-1-62703-080-9_9
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