Matches in SemOpenAlex for { <https://semopenalex.org/work/W3184353825> ?p ?o ?g. }
Showing items 1 to 83 of
83
with 100 items per page.
- W3184353825 abstract "Common chromosomal fragile sites (CFSs) are genomic regions prone to form breaks and gaps on metaphase chromosomes during conditions of replication stress. Moreover, CFSs are hotspots for deletions and amplifications in cancer genomes. Fragility at CFSs is caused by transcription of extremely large genes, which contributes to replication problems. These extremely large genes do not encode large proteins, but the extreme sizes of the genes originate from vast introns. Intriguingly, the intron sizes of extremely large genes are conserved between mammals and birds. Here, we have used reverse genetics to address the function and significance of the largest intron in the extremely large gene PRKN , which is highly fragile in our model system. Specifically, we have introduced an 80-kilobase deletion in intron 7 of PRKN . We find that gene expression of PRKN is largely unaffected by this intronic deletion. Strikingly, the intronic deletion, which leads to a 12% reduction of the overall size of the PRKN gene body, results in an almost twofold reduction of the PRKN fragility. Our results stress that while the large intron clearly contributes to the fragility of PRKN , it does not play an important role for PRKN expression. Taken together, our findings further add to the mystery concerning conservation of the seemingly non-functional but troublesome large introns in PRKN ." @default.
- W3184353825 created "2021-08-02" @default.
- W3184353825 creator A5000722285 @default.
- W3184353825 creator A5074842411 @default.
- W3184353825 creator A5090921416 @default.
- W3184353825 date "2021-07-20" @default.
- W3184353825 modified "2023-10-16" @default.
- W3184353825 title "Large Intronic Deletion of the Fragile Site Gene PRKN Dramatically Lowers Its Fragility Without Impacting Gene Expression" @default.
- W3184353825 cites W1964640891 @default.
- W3184353825 cites W1966588697 @default.
- W3184353825 cites W1980356512 @default.
- W3184353825 cites W1981202500 @default.
- W3184353825 cites W1994415651 @default.
- W3184353825 cites W2043745733 @default.
- W3184353825 cites W2067613039 @default.
- W3184353825 cites W2069448970 @default.
- W3184353825 cites W2071734901 @default.
- W3184353825 cites W2075233656 @default.
- W3184353825 cites W2087565131 @default.
- W3184353825 cites W2100004110 @default.
- W3184353825 cites W2107277218 @default.
- W3184353825 cites W2143906078 @default.
- W3184353825 cites W2153056550 @default.
- W3184353825 cites W2158363851 @default.
- W3184353825 cites W2168420558 @default.
- W3184353825 cites W2194086801 @default.
- W3184353825 cites W2256829667 @default.
- W3184353825 cites W2268858163 @default.
- W3184353825 cites W2541070397 @default.
- W3184353825 cites W2614327605 @default.
- W3184353825 cites W2739167375 @default.
- W3184353825 cites W2743954317 @default.
- W3184353825 cites W2775567101 @default.
- W3184353825 cites W2788084906 @default.
- W3184353825 cites W2791911476 @default.
- W3184353825 cites W2902079410 @default.
- W3184353825 cites W2904929415 @default.
- W3184353825 cites W3004584205 @default.
- W3184353825 cites W58977127 @default.
- W3184353825 doi "https://doi.org/10.3389/fgene.2021.695172" @default.
- W3184353825 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8329550" @default.
- W3184353825 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34354738" @default.
- W3184353825 hasPublicationYear "2021" @default.
- W3184353825 type Work @default.
- W3184353825 sameAs 3184353825 @default.
- W3184353825 citedByCount "1" @default.
- W3184353825 countsByYear W31843538252023 @default.
- W3184353825 crossrefType "journal-article" @default.
- W3184353825 hasAuthorship W3184353825A5000722285 @default.
- W3184353825 hasAuthorship W3184353825A5074842411 @default.
- W3184353825 hasAuthorship W3184353825A5090921416 @default.
- W3184353825 hasBestOaLocation W31843538251 @default.
- W3184353825 hasConcept C104317684 @default.
- W3184353825 hasConcept C141231307 @default.
- W3184353825 hasConcept C54355233 @default.
- W3184353825 hasConcept C86803240 @default.
- W3184353825 hasConcept C94671646 @default.
- W3184353825 hasConceptScore W3184353825C104317684 @default.
- W3184353825 hasConceptScore W3184353825C141231307 @default.
- W3184353825 hasConceptScore W3184353825C54355233 @default.
- W3184353825 hasConceptScore W3184353825C86803240 @default.
- W3184353825 hasConceptScore W3184353825C94671646 @default.
- W3184353825 hasFunder F4320310490 @default.
- W3184353825 hasFunder F4320325957 @default.
- W3184353825 hasLocation W31843538251 @default.
- W3184353825 hasLocation W31843538252 @default.
- W3184353825 hasOpenAccess W3184353825 @default.
- W3184353825 hasPrimaryLocation W31843538251 @default.
- W3184353825 hasRelatedWork W1996012994 @default.
- W3184353825 hasRelatedWork W2039352533 @default.
- W3184353825 hasRelatedWork W2041335525 @default.
- W3184353825 hasRelatedWork W2054641857 @default.
- W3184353825 hasRelatedWork W2081600652 @default.
- W3184353825 hasRelatedWork W2109717569 @default.
- W3184353825 hasRelatedWork W2407212450 @default.
- W3184353825 hasRelatedWork W4252543656 @default.
- W3184353825 hasRelatedWork W4315640719 @default.
- W3184353825 hasRelatedWork W2094069166 @default.
- W3184353825 hasVolume "12" @default.
- W3184353825 isParatext "false" @default.
- W3184353825 isRetracted "false" @default.
- W3184353825 magId "3184353825" @default.
- W3184353825 workType "article" @default.