Recombinant Human U4/U6 small nuclear ribonucleoprotein Prp31 (PRPF31)

1. We have identified a previously unreported missense mutation of PRPF31 that resulted in incomplete penetrance in a family with night blindness a Retinitis pigmentosa. PMID: 30099644
2. A novel heterozygous insertion frameshift mutation c.1226_1227insA, p.T410Dfs*65, and a novel heterozygous stopgain mutation c.1015C>T, p.Q339* were identified in PRPF31. PMID: 29957067
3. Common variants in PRPF31 and CPA6 were associated with worse and better metformin response, respectively. PMID: 29650774
4. Mutation analysis revealed PRPF31 mutations as the cause for autosomal dominant RP in both patients PMID: 29305715
5. we identified the biological function of lncRNA RP11-838N2.4 in temolozomide resistance in glioblastoma PMID: 27270310
6. Our study revealed novel mutations of PRPF31 in RP. Our results also showed that the two mutations (c.547delG or c.804delG) affect gene expression and GFP-PRPF31sg has increased protein stability. PMID: 29260190
7. We also demonstrate that across the human genome, the presence of MSR1 repeats in the promoters or first introns of genes is associated with greater population variability in gene expression indicating that copy number variation of MSR1s is a generic controller of gene expression and promises to provide new insights into our understanding of gene expression regulation PMID: 26781568
8. In view of the high genetic heterogeneity of PRPF31 mutations, the screening must include the entire gene, as well as CNV assays, to detect large rearrangements. PMID: 28192796
9. This study identified host factor PRPF31 as a cellular factor involved in Hepatitis B virus covalently closed circular DNA (cccDNA)formation. PRPF31 is recruited to cccDNA. Chromatin immunoprecipitation and immunoprecipitation assays revealed an association between PRPF31 and cccDNA. PMID: 27864147
10. Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa has been described. PMID: 26853529
11. This is the first Swedish report of the clinical phenotype associated with a mutation in the PRPF31 (p.IVS6+1G>T) gene. PMID: 27212874
12. The small nuclear ribonucleoprotein U4 core-domain structure has now been re-refined. The U4 Sm site-sequence AAUUUUU has been shown to bind to the seven Sm proteins SmF-SmE-SmG-SmD3-SmB-SmD1-SmD2 in an identical manner as the U1 Sm-site sequence AAUUUGU, except in SmD1 where the bound U replaces G. PMID: 26894541
13. As PRPF31 mutations cause retinitis pigmentosa by haploinsufficiency, this is a good candidate for adeno-associated virus (AAV)-based gene augmentation therapy. PMID: 26959129
14. A PRPF31 mutation was identified to be responsible for adRP in a large Chinese family. Our findings expand the mutation spectrum of RP in the Chinese population. PMID: 23834559
15. A mutation in PRPF31 is hypostatic to a trait acting on CNOT3, with the RP11 phenotype only being observed when there is homozygous (recessive) inheritance of the higher expressivity CNOT3 ("symptomatic" or risk) allele. PMID: 24116917
16. identification of the novel "A" insertion mutation in exon9 at chr19:54629961-54629961 in PRPF31 can provide further genetic evidence for clinical test for adRP and JMD. PMID: 24244300
17. Two novel PRPF31 mutations including a complex insertion-deletion mutation have been identified in Chinese families with retinitis pigmentosa. PMID: 24319336
18. We have identified a novel 14-bp deletion in PRPF31 as the genetic driver of adRP in a large Mexican family that exhibits nonpenetrance and variable expressivity, known properties of this locus. PMID: 24595387
19. The molecular and clinical features of a family with a novel 3-base insertion, c.914_915insTGT (p.Val305_Asp306insVal) in exon 9 of PRPF31 are described to illustrate the salient clinical features of mutations in this gene. PMID: 23343310
20. In asymptomatic carriers CNOT3 is expressed at low levels, allowing higher amounts of wild-type PRPF31 transcripts to be produced and preventing manifestation of retinal degeneration. PMID: 23144630
21. Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients occur at a relatively high frequency. PMID: 23288994
22. The present study describes mapping of a locus for non-syndromic adRP at 19q13.42 (RP11 locus) in a family of Indian origin and identifies a novel deletion, c.59_65del7, in PRPF31 within the mapped interval. PMID: 23041261
23. Characterization of the core promoters controlling the expression of PRPF31 and TFPT, a bi-directional gene-pair. PMID: 22723017
24. This study describes two large deletions, one in a previously reported family and one in a new family: the latter represents the largest deletion yet described on chromosome 19 and the first report of the involvement of VSTM-1. PMID: 21715351
25. RP-PRPF defects affect the stoichiometry of spliceosomal small nuclear RNAs. In cells with PRPF31 mutations there was no lymphoblasts with PRPF31 mutations correctly assembled tri-snRNPs, but in a less efficient manner compared with controls. PMID: 21378395
26. CTNNBL1 is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L and Prp31 PMID: 21385873
27. extended the mutation spectrum of PRPF31 and as previously reported in other populations, it is a major cause of autosomal dominant rod-cone dystrophy in France. PMID: 20939871
28. 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. PMID: 11867543
29. Two missense mutations in PRPF31 (A194E and A216P) linked to autosomal dominant retinitis pigmentosa substantially hinder translocation of PRPF31 into the nucleus. PMID: 12444105
30. Deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa PMID: 12923864
31. Partial penetrance in RP11 could be due to the coinheritance of a PRPF31 gene defect and a low-expressed wild-type allele PMID: 14507862
32. A novel splicing mutation (IVS5-1G>A) in the pre-mRNA splicing-factor gene PRPF31 causes retinitis pigmentosa in a large Chinese family. The mutation results in a truncated protein of PRPF31. PMID: 15162096
33. in the absence of either hPrp31 or hPrp6, U4/U6 di-snRNPs as well as p110 accumulate in Cajal bodies PMID: 15257298
34. Our results demonstrate that mutations in PRPF31 gene affect rhodopsin (RHO) pre-mRNA splicing and reveal a link between PRPF31 and RHO, two major genes in autosomal dominant retinitis pigmentosa. PMID: 15659613
35. A novel splice site mutation in the PRPF31 gene caused retinitis pigmentosa (RP) in the four-generation Chinese RP family. PMID: 15924690
36. The 1142delG and 1155-1159delGGACG/insAGGGATT mutations in the PRPF31 gene cause RP. PMID: 16139010
37. Data demonstrate that His-tagged PRPF31 interacts with importin beta1 for translocation to the nucleus, with no requirement for importin alpha1. PMID: 16427773
38. This mutation provides evidence that haploinsufficiency rather than aberrant function of mutated proteins is cause of disease in these adRP patients with mutations in PRPF31 gene. PMID: 16636657
39. We describe a novel PRPF31 mutation and present the first case of a homozygous mutation in the RPGR gene in a female individual. PMID: 16917484
40. MLPA (multiplex ligation-dependent probe amplification) was used to identify genomic rearrangements in PRPF31 in five families, suggesting a frequency of approximately 2.5%. PMID: 17003455
41. Although the frequency of mutations in the PRPF31 gene is about 2.5% in Japanese families with adRP, it is possible that c.1142delG is a common mutation among Japanese patients with adRP associated with mutations in the PRPF31 gene. PMID: 17295140
42. Mutations in PRPF31 causing adRP (autosomal dominant retinitis pigmentosa) were present in nearly 5% of a mixed U.K. population. PMID: 17325180
43. structural and biochemical analyses of hPrp31-15.5K-U4 snRNA complexes show how the conserved Nop domain in hPrp31 maintains high RNP binding selectivity despite relaxed RNA sequence requirements PMID: 17412961
44. a new mutation in the PRPF31 gene is described, together with the clinical phenotype of dominant retinitis pigmentosa PMID: 17895420
45. Our studies identify a novel splicing mutation in PRPF31 associated with adRP and suggest that the penetrance of RP11 mutations may be correlated with the expression level of the PRPF31 mRNA. PMID: 18177735
46. pathogenic effect of PRPF31 mutations is likely due to haploinsufficiency rather than to gain of function PMID: 18317597
47. The RP11 missense mutations exert their pathology mainly via a mechanism based on protein insufficiency due to protein insolubility, but there is also a minor direct negative effect on function. PMID: 18431455
48. RHO, PRPF31, RP1, and IMPDH1 were screened and causative mutations were identifiedin 4% of isolated and 2% of autosomal dominant forms of retinitis pigmentosa patients from India. PMID: 18552984
49. PRPF31 mRNA expression and consequently the penetrance of PRPF31 mutations is managed by diffusible compounds encoded by at least two modifiers, acting in a co-regulatory system on both PRPF31 alleles during transcription. PMID: 18640990
50. Ala216Pro mutation destabilizes the hPrp31 protein structure and reduces its interaction with snRNP binding. PMID: 19293337

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HGNC: 15446

OMIM: 600138

KEGG: hsa:26121

STRING: 9606.ENSP00000324122

UniGene: Hs.515598