IndraLab
Statements
reach
"The conservative missense variant p.PRPF8-Arg2310Lys that is not altering the global charge of the C-terminal tail, and variants located at the basis of the C-terminal tail show milder clinical phenotypes, in accordance with functional data on PRPF8 and SNRNP200 interactions in yeast."
sparser
"For example, pathogenic variants in PRPF8 and SNRNP200 were clustered in their interaction regions, where defects disrupted PRPF8–SNRNP200 interactions. xref – xref Previously, situations similar to that of TOPORS have been reported in the RP1 gene, in which causative heterozygous truncating variants are only located in a specific region in the middle of the gene. xref – xref Regarding TOPORS , products resulting from pathogenic truncating variants located in the last exon and downstream of the SR/RS domain may escape nonsense-mediated mRNA decay (NMD) xref and reduce the activity of the wild-type allele via the dominant-negative effect."
reach
"These Prp8-RP mutants directly affect U5 snRNP and tri-snRNP maturation (Boon et al. 2007), Brr2 helicase, and ATPase activities (Pena et al. 2007; Maeder et al. 2009; Mozaffari-Jovin et al. 2013), and yeast-two-hybrid interactions between Brr2, Prp8, and Snu114 (Table 1; Pena et al. 2007)."
sparser
"Moreover, they also report that a loss of PHF6 results in increased genomic instability at rDNA genes and a cell cycle delay at G2/M. While this was the first indication of a nucleolar function for PHF6, it has also been reported to interact with PRPF8 and SNRNP200, both constituents of the U4/U6-U5 tri-snRNP pre-mRNA splicing ribonucleoprotein complex [ xref ]."