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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.
Common variants in PRPF31 and CPA6 (show CYP2A6 Proteins) were associated with worse and better metformin response, respectively.
Mutation analysis revealed PRPF31 mutations as the cause for autosomal dominant RP in both patients
we identified the biological function of lncRNA RP11-838N2.4 in temolozomide resistance in glioblastoma
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.
We show that PRP31, a component of U4 snRNP, is modified with K63-linked ubiquitin chains by the PRP19 complex and deubiquitinated by USP15 and its substrate targeting factor SART3. USP15SART3 makes a complex with USP4 and this ternary complex serves as a platform to deubiquitinate PRP31 and PRP3
We also demonstrate that across the human genome, the presence of MSR1 (show MSR1 Proteins) 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
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.
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.
Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa has been described.
The mouse retinal pigment epithelium (RPE (show RPE Proteins))is the primary cell affected by mutations in the RNA splicing factors (PRPF3 (show PRPF3 Proteins), PRPF8, and PRPF31), and these changes occur at an early age.
found that PRP31 and PRPC8 as well as snRNAs are highly expressed in retinal cells
CTNNBL1 (show CTNNBL1 Proteins) is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L (show CDC5L Proteins) and Prp31
The finding of similar degenerative changes in RPE (show RPE Proteins) cells of all three mouse models suggests that the retinal pigment epithelium may be the primary cell type affected in the RNA splicing factor (show SLU7 Proteins) forms of retinitis pigmentosa.
Our results demonstrate that mutations in PRPF31 gene affect rhodopsin (show RHO Proteins) (RHO) pre-mRNA splicing and reveal a link between PRPF31 and RHO, two major genes in autosomal dominant retinitis pigmentosa.
Our results indicate that PRPF31 mutations lead to defective pre-mRNA splicing of photoreceptor-specific genes and that the ubiquitously expressed adRP (show PLIN2 Proteins) gene, PRPF31, is critical for pre-mRNA splicing of a subset of photoreceptor genes.
The results imply that Prpf31 is necessary for survival, and there is no compensation mechanism in mouse for the lack of this splicing factor (show SLU7 Proteins)
This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.
pre-mRNA processing factor 31 homolog
, PrpF31 U4/U6*U5 snRNP-associated pre-mRNA processing factor 31, (IC)
, PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)
, PRP31 pre-mRNA processing factor 31 homolog
, u4/U6 small nuclear ribonucleoprotein Prp31-like
, U4/U6 small nuclear ribonucleoprotein Prp31
, U4/U6 snRNP 61 kDa protein
, pre-mRNA-processing factor 31
, protein 61K
, serologically defined breast cancer antigen NY-BR-99
, pre-mRNA processing factor 31-like protein