PRPF31 alternative splicing and expression in human retina

Ophthalmic Genetics

Volumn 30, Issue 2, 2009, Pages 76-83

  Tanackovic, Goranka ^a   Rivolta, Carlo ^a  

^a UNIVERSITY OF LAUSANNE   (Switzerland)

Author keywords

Alternative splicing; PRPF31; Retina; Retinitis pigmentosa (RP)

Indexed keywords

EYE PROTEIN; MESSENGER RNA; RETINITIS PIGMENTOSA 11 PROTEIN; UNCLASSIFIED DRUG; ISOPROTEIN; PRPF31 PROTEIN, HUMAN;

ALTERNATIVE RNA SPLICING; ARTICLE; BRAIN TISSUE; CANCER CELL CULTURE; CONTROLLED STUDY; FIBROBLAST; GENE EXPRESSION PROFILING; GENE ISOLATION; GENE MUTATION; HEART; HELA CELL; HUMAN; HUMAN CELL; HUMAN TISSUE; MOLECULAR CLONING; MUTATIONAL ANALYSIS; PIGMENT EPITHELIUM; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETINA; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SKELETAL MUSCLE; TESTIS; TISSUE SECTION; TISSUE SPECIFICITY; ADULT; ANIMAL; CELL CULTURE; FEMALE; GENE EXPRESSION; GENETICS; MALE; METABOLISM; MIDDLE AGED; MOUSE; MUTATION; WESTERN BLOTTING;

ADULT; ALTERNATIVE SPLICING; ANIMALS; BLOTTING, WESTERN; CELLS, CULTURED; CLONING, MOLECULAR; EYE PROTEINS; FEMALE; GENE EXPRESSION; HUMANS; MALE; MICE; MIDDLE AGED; MUTATION; PROTEIN ISOFORMS; RETINA; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 65449135988     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810902744621     Document Type: Article

References (36)

1. Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006;368:1795-1809.
2. Chakarova CF, Hims MM, Bolz H, et al. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet. 2002;11:87-92.
3. Maita H, Kitaura H, Keen TJ, Inglehearn CF, Ariga H, Iguchi- Ariga SM. PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor. Exp Cell Res. 2004;300:283-296.
4. Makarova OV, Makarov EM, Liu S, Vornlocher HP, Lührmann R. Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6.U5 tri-snRNP formation and pre-mRNA splicing. EMBO J. 2002;21:1148-1157.
5. McKie AB, McHale JC, Keen TJ, et al. Mutations in the premRNAsplicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum Mol Genet. 2001;10:1555-1562.
6. Vithana EN, Abu-Safieh L, Allen MJ, et al. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell. 2001;8:375-381.
7. Lossky M, Anderson GJ, Jackson SP, Beggs J. Identification of a yeast snRNP protein and detection of snRNP-snRNP interactions. Cell. 1987;51:1019-1026.
8. Potashkin J, Li R, Frendewey D. Pre-mRNA splicing mutants of Schizosaccharomyces pombe. EMBO J. 1989;8:551-559.
9. Weidenhammer EM, Singh M, Ruiz Noriega M, Woolford JLJ. The PRP31 gene encodes a novel protein required for premRNA splicing in Saccharomyces cerevisiae. Nucleic Acids Res. 1996;24:1164-1170.
10. Stetefeld J, Ruegg MA. Structural and functional diversity generated by alternative mRNA splicing. Trends Biochem Sci. 2005;30:515-521.
11. Mann M, Jensen ON. Proteomic analysis of post-translational modifications. Nat Biotechnol. 2003;21:255-261.
12. Baehr W, Chen CK. RP11 and RP13: Unexpected gene loci. Trends Mol Med. 2001;7:484-486.
13. Neidhardt J, Glaus E, Barthelmes D, Zeitz C, Fleischhauer J, Berger W. Identification and characterization of a novel RPGR isoform in human retina. Hum Mutat. 2007;28:797-807.
14. van Wijk E, Pennings RJ, Te Brinke H, Claassen A, Yntema HG, Hoefsloot LH, Cremers FP, Cremers CW, Kremer H. Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet 2004;74:738-744.
15. Bowne SJ, Liu Q, Sullivan LS, Zhu J, Spellicy CJ, Rickman CB, Pierce EA, Daiger SP. Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retinaspecific photoreceptor degeneration? Invest Ophthalmol Vis Sci. 2006;47:3754-3765.
16. Nottrott S, Urlaub H, Luhrmann R. Hierarchical, clustered protein interactions with U4/U6 snRNA: A biochemical role for U4/U6 proteins. EMBO J. 2002;21:5527-5538.
17. Schaffert N, Hossbach M, Heintzmann R, Achsel T, Luhrmann R. RNAi knockdown of hPrp31 leads to an accumulation of U4/U6 di-snRNPs in Cajal bodies. EMBO J. 2004;23:3000-3009.
18. Vithana EN, Abu-Safieh L, Pelosini L, Winchester E, Hornan D, Bird AC, Hunt DM, Bustin SA, Bhattacharya SS. Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: A molecular clue for incomplete penetrance? Invest Ophthalmol Vis Sci. 2003;44:4204-4209.
19. Rivolta C, McGee TL, Rio Frio T, Jensen RV, Berson EL, Dryja TP. Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. Hum Mutat. 2006;27:644-653.
20. Rio Frio T, Wade NM, Ransijn A, Berson EL, Beckmann JS, Rivolta C. Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. J Clin Invest. 2008;118:1519-1531.
21. Abu-Safieh L, Vithana EN, Mantel I, Holder GE, Pelosini L, Bird AC, Bhattacharya SS. A large deletion in the adRP gene PRPF31: Evidence that haploinsufficiency is the cause of disease. Mol Vis. 2006;12:384-388.
22. Sullivan LS, Bowne SJ, Seaman CR, Blanton SH, Lewis RA, Heckenlively JR, Birch DG, Hughbanks-Wheaton D, Daiger SP. Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2006;47:4579-4588.
23. Kramer A, Keller W. Preparation and fractionation of mammalian extracts active in pre-mRNA splicing. Methods Enzymol. 1990;181:3-19.
24. Tanackovic G, Kramer A. Human splicing factor SF3a, but not SF1, is essential for pre-mRNA splicing in vivo. Mol Biol Cell. 2005;16:1366-1377.
25. De La Grange P, Dutertre M, Martin N, Auboeuf D. FAST DB: A website resource for the study of the expression regulation of human gene products. Nucleic Acids Res. 2005;33:4276-4284.
26. De La Grange P, Dutertre M, Correa M, Auboeuf D. A new advance in alternative splicing databases: From catalogue to detailed analysis of regulation of expression and function of human alternative splicing variants. BMC Bioinformatics. 2007;8:180.
27. Hubbard TJ, Aken BL, Beal K, et al.Ensembl 2007. Nucleic Acids Res. 2007;35:D610-617.
28. Vandesompele J, De Preter K, Pattyn F, Poppe B, Van Roy N, De Paepe A, Speleman F. Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol. 2002;Retrieved from http://genomebiology.com/content/pdf/gb-2002-3-7- research0034.pdf
29. Blencowe BJ. Alternative splicing: New insights from global analyses. Cell. 2006;126:37-47.
30. Faustino NA, Cooper TA. Pre-mRNA splicing and human disease. Genes Dev. 2003;17:419-437.
31. Takahashi A, Muramatsu H, Takagi S, Fujisawa H, Miyake Y, Muramatsu T. A splicing factor, Prp8: Preferential localization in the testis and ovary in adult mice. J Biochem. 2001;129:599-606.
32. Gonzalez-Santos JM, Cao H, Wang A, Koehler DR, Martin B, Navab R, Hu J. A complementation method for functional analysis of mammalian genes. Nucleic Acids Res. 2005;33:e94.
33. Trifunovic D, Karali M, Camposampiero D, Ponzin D, Banfi S, Marigo V. A high-resolution RNA expression atlas of retinitis pigmentosa genes in human and mouse retinas. Invest Ophthalmol Vis Sci. 2008;49:2330-2336.
34. Bracey LT, Paigen K. Changes in translational yield regulate tissuespecific expression of beta-glucuronidase. Proc Natl Acad Sci U. S. A. 1987;84:9020-9024.
35. Plotkin JB, Robins H, Levine AJ. Tissue-specific codon usage and the expression of human genes. Proc Natl Acad Sci U. S. A. 2004;101:12588-12591.
36. Zhang Z, Lotti F, Dittmar K, Younis I, Wan L, Kasim M, Dreyfuss G. SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing. Cell. 2008;133:585-600.