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Gene Review

PRPF3  -  pre-mRNA processing factor 3

Homo sapiens

Synonyms: HPRP3, HPRP3P, PRP3, Pre-mRNA-splicing factor 3, Prp3, ...
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Disease relevance of PRPF3

  • PURPOSE: Mutations in the systemically expressed pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 have recently been associated with autosomal dominant retinitis pigmentosa (adRP) [1].
  • MEASUREMENTS: Lung function, cycloergometry, walking test, dyspnea, and health-related quality of life (HRQL) were assessed before and after PRP2, and before and after PRP3 [2].

High impact information on PRPF3

  • Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa [3].
  • A locus (RP18) for autosomal dominant RP was previously mapped by linkage analysis in two large pedigrees to chromosome 1p13-q21 [3].
  • This has been confirmed by haplotype analysis using SNPs spanning the HPRP3 gene region supporting multiple origins of the mutation [3].
  • Close linkage without recombination and a maximum lod score of 7.22 at theta = 0.00 was found between the adRP locus (RP18) in this family and D1S498 which is on 1q very near the centromere [4].
  • Analysis of multiply informative meioses suggests that in this family D1S534 and D1S305 flank RP18 in interval 1p13-q23 [4].

Biological context of PRPF3

  • We demonstrated the utility of the method by using PRPF3, which encodes the human RNA splicing factor Hprp3p [5].
  • Recently, missense mutations in PRPF3 were found to cause autosomal-dominant Retinitis Pigmentosa, a form of genetic eye diseases affecting the retina [5].
  • We knocked-down endogenous PRPF3 in multiple cell lines and rescued the phenotype (cell death) with exogenous PRPF3 cDNA, thereby creating a genetic complementation method [5].
  • Acetylisoniazid, diacetylhydrazine and the internal standard dipropionylhydrazine were converted to isoniazid, acetylhydrazine, and propionylhydrazine by acidic hydrolysis and subsequently derivatized with m-fluorobenzoyl chloride, separated on a RP-18 column and detected at 220 nm [6].
  • The kinetics of adsorption of the salivary phosphopeptide statherin, a polyaspartate, and the salivary prolinerich phosphoprotein PRP3 are consistent with the reversibility of the adsorption process; no conclusion was possible in the case of the protein PRP1 [7].

Anatomical context of PRPF3

  • Furthermore, both Prp3p and a part of PAP-1 were found to be components of the U4/U6.U5-tri-snRNP complex, one form of the spliceosome, in Ba/F3 and K562 cells by analysis of sucrose density gradients, suggesting that PAP-1 is weakly associated with the spliceosome [8].
  • Upon inactivation of Prp3p, spliceosomes cannot assemble from prespliceosomes due to the absence of intact U4/U6.U5 tri-snRNPs [9].
  • Experiments performed with capillaries packed with 3-microm RP18 particles provided good limit of detection (LOD) and limit of quantification (LOQ) (for delta-, gamma-TOH, alpha-TOH-Ac were 4 and 8 microg/ml, while for alpha-TOH were 6 and 10 microg/ml, respectively) [10].
  • Liposolubility was assessed by three different methods: 1) the shake-flask method with n-octanol at pH 4-9, 2) measuring the retention time in reversed-phase high-performance liquid chromatography (RP-HPLC) with a LiChrosorb RP-18 and 3) studying the solubility in human epidural and subcutaneous fat [11].
  • Analysis of the incubation media of parotid glands revealed the presence of basic PRPs PC, PD, PH, IB-1, II-2, and acidic PRP-1 and PRP-3 in all of the investigated samples [12].

Associations of PRPF3 with chemical compounds

  • Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex [8].
  • Active fractions containing approximately 1 X 10(7) units of SIRS activity and 300 mg protein were fractionated further by reverse phase HPLC on a Lichrosorb RP-18 column in a 1.0 M pyridine-0.5 M acetic acid buffer [13].
  • An IAM.PC.DD2 column has been used for this study, together with two XTerra columns (MSC18 and RP18), at several acetonitrile-water mobile phases [14].
  • A comparative study of a pH-controlled mixed solid phase (LiChroprep RP18/LiChrolut EN) extraction with different desorption solvents (acetonitrile or acetonitrile and dichloromethane/methanol) is elaborated [15].
  • An HPLC method for digoxin based on isocratic separation of samples on an RP-18 column followed by detection by an immunoassay yielded a reasonable comparability with the immunochemical tests with noncritical samples [16].

Other interactions of PRPF3

  • Three patients were heterozygous carriers of different nonsense mutations in exon 8 of the PRPF31, gene and one Thr494Met mutation was found in exon 11 of the PRPF3 gene [1].
  • Cosegregation of the mutation in PRPF8 and PRPF3 with adRP was observed [1].
  • The human U4/U6 snRNP contains 60 and 90kD proteins that are structurally homologous to the yeast splicing factors Prp4p and Prp3p [17].
  • Tandem mass spectrometry for structural characterization of proline-rich proteins: application to salivary PRP-3 [18].
  • Both the U5-specific, TPR/HAT-repeat-containing hPrp6 protein and the tri-snRNP-specific hSnu66 protein interact with several U5- and U4/U6-associated proteins, including hBrr2 and hPrp3, which contacts the U6 snRNA [19].

Analytical, diagnostic and therapeutic context of PRPF3

  • Preparative reversed-phase thin layer chromatography on silanized silica-gel (RP-2 and RP-18) has been developed to purify triester deoxyribooligonucleotides prepared by the modified triester method [20].
  • METHODS: An online extraction cartridge with column-switching technique, analytical liquid chromatography over a Chromolith RP 18 e column, and tandem mass spectrometry were used to quantify busulfan concentrations in matched plasma and saliva samples [21].
  • Samples (1.0 ml of human urine) were first subjected to gel chromatography to remove interfering substances, and then applied to a reversed-phase column (LiChrosorb RP-18, 7 micron) [22].
  • The method consists of on-line sample clean-up using a restricted access sorbent, HPLC analysis of the drugs on a microsphere non-porous silica RP-18 column, and front-cutting to perform the chiral separation of pindolol enantiomers on a second HPLC system [23].
  • The reactant benzene molecules were introduced into the source either through the nebulizer gas or by direct post-column addition of neat liquid, whereas the targeted compounds were analyzed using a high-performance liquid chromatography (HPLC) RP-18 column using methanol/water solutions as mobile phase [24].


  1. Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. Martínez-Gimeno, M., Gamundi, M.J., Hernan, I., Maseras, M., Millá, E., Ayuso, C., García-Sandoval, B., Beneyto, M., Vilela, C., Baiget, M., Antiñolo, G., Carballo, M. Invest. Ophthalmol. Vis. Sci. (2003) [Pubmed]
  2. Is it really useful to repeat outpatient pulmonary rehabilitation programs in patients with chronic airway obstruction? A 2-year controlled study. Foglio, K., Bianchi, L., Ambrosino, N. Chest (2001) [Pubmed]
  3. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Chakarova, C.F., Hims, M.M., Bolz, H., Abu-Safieh, L., Patel, R.J., Papaioannou, M.G., Inglehearn, C.F., Keen, T.J., Willis, C., Moore, A.T., Rosenberg, T., Webster, A.R., Bird, A.C., Gal, A., Hunt, D., Vithana, E.N., Bhattacharya, S.S. Hum. Mol. Genet. (2002) [Pubmed]
  4. A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1. Xu, S.Y., Schwartz, M., Rosenberg, T., Gal, A. Hum. Mol. Genet. (1996) [Pubmed]
  5. A complementation method for functional analysis of mammalian genes. Gonzalez-Santos, J.M., Cao, H., Wang, A., Koehler, D.R., Martin, B., Navab, R., Hu, J. Nucleic Acids Res. (2005) [Pubmed]
  6. Determination of isoniazid, acetylisoniazid, acetylhydrazine and diacetylhydrazine in biological fluids by high-performance liquid chromatography. von Sassen, W., Castro-Parra, M., Musch, E., Eichelbaum, M. J. Chromatogr. (1985) [Pubmed]
  7. Adsorption of molecules of biological interest onto hydroxyapatite. Moreno, E.C., Kresak, M., Hay, D.I. Calcif. Tissue Int. (1984) [Pubmed]
  8. Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex. Maita, H., Kitaura, H., Ariga, H., Iguchi-Ariga, S.M. Exp. Cell Res. (2005) [Pubmed]
  9. The yeast Prp3 protein is a U4/U6 snRNP protein necessary for integrity of the U4/U6 snRNP and the U4/U6.U5 tri-snRNP. Anthony, J.G., Weidenhammer, E.M., Woolford, J.L. RNA (1997) [Pubmed]
  10. Separation of tocopherols by nano-liquid chromatography. Fanali, S., Camera, E., Chankvetadze, B., D'Orazio, G., Quaglia, M.G. Journal of pharmaceutical and biomedical analysis. (2004) [Pubmed]
  11. Liposolubility and protein binding of oxycodone in vitro. Pöyhiä, R., Seppälä, T. Pharmacol. Toxicol. (1994) [Pubmed]
  12. The coupling of RP-HPLC and ESI-MS in the study of small peptides and proteins secreted in vitro by human salivary glands that are soluble in acidic solution. Messana, I., Loffredo, F., Inzitari, R., Cabras, T., Giardina, B., Onnis, G., Piludu, M., Castagnola, M. European journal of morphology. (2003) [Pubmed]
  13. Purification and initial characterization of the lymphokine soluble immune response suppressor. Aune, T.M., Webb, D.R., Pierce, C.W. J. Immunol. (1983) [Pubmed]
  14. Chromatographic estimation of drug disposition properties by means of immobilized artificial membranes (IAM) and C18 columns. Lázaro, E., Ràfols, C., Abraham, M.H., Rosés, M. J. Med. Chem. (2006) [Pubmed]
  15. Identification and quantification of 77 pesticides in groundwater using solid phase coupled to liquid-liquid microextraction and reversed-phase liquid chromatography. Vandecasteele, K., Gaus, I., Debreuck, W., Walraevens, K. Anal. Chem. (2000) [Pubmed]
  16. Comparability of a new turbidimetric digoxin test with other immunochemical tests and with HPLC--a multicenter evaluation. Scholer, A., Boecker, J., Engelmayer, U., Feldmann, K., Hannak, D., Kattermann, R., Oellerich, M., Raith, H., Schlebusch, H., Wieland, H., Willems, D., Jarausch, J., Domke, I. Clin. Chem. (1997) [Pubmed]
  17. The human U4/U6 snRNP contains 60 and 90kD proteins that are structurally homologous to the yeast splicing factors Prp4p and Prp3p. Lauber, J., Plessel, G., Prehn, S., Will, C.L., Fabrizio, P., Gröning, K., Lane, W.S., Lührmann, R. RNA (1997) [Pubmed]
  18. Tandem mass spectrometry for structural characterization of proline-rich proteins: application to salivary PRP-3. Leymarie, N., Berg, E.A., McComb, M.E., O'Connor, P.B., Grogan, J., Oppenheim, F.G., Costello, C.E. Anal. Chem. (2002) [Pubmed]
  19. The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP. Liu, S., Rauhut, R., Vornlocher, H.P., Lührmann, R. RNA (2006) [Pubmed]
  20. Synthesis of human insulin gene. Part I. Development of reversed-phase chromatography in the modified triester method. Its application in the rapid and efficient synthesis of eight deoxyribooligonucleotides fragments constituting human insulin A DNA. Hsiung, H.M., Brousseau, R., Michniewicz, J., Narang, S.A. Nucleic Acids Res. (1979) [Pubmed]
  21. Quantification of busulfan in saliva and plasma in haematopoietic stem cell transplantation in children : validation of liquid chromatography tandem mass spectrometry method. Rauh, M., Stachel, D., Kuhlen, M., Gröschl, M., Holter, W., Rascher, W. Clinical pharmacokinetics. (2006) [Pubmed]
  22. New application of high-performance liquid chromatography for analysis of urinary C-peptide. Oyama, H., Endoh, M., Yoneda, M., Matsuki, M., Satoh, A., Nishida, S., Horino, M. J. Chromatogr. (1985) [Pubmed]
  23. On-line column-switching high-performance liquid chromatography analysis of cardiovascular drugs in serum with automated sample clean-up and zone-cutting technique to perform chiral separation. Mangani, F., Luck, G., Fraudeau, C., Vérette, E. Journal of chromatography. A. (1997) [Pubmed]
  24. Benzene-assisted atmospheric-pressure chemical ionization: a new liquid chromatography/mass spectrometry approach to the analysis of selected hydrophobic compounds. Perazzolli, C., Mancini, I., Guella, G. Rapid Commun. Mass Spectrom. (2005) [Pubmed]
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