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].

References