Matches in SemOpenAlex for { <https://semopenalex.org/work/W3136705488> ?p ?o ?g. }
Showing items 1 to 69 of
69
with 100 items per page.
- W3136705488 endingPage "e1009108" @default.
- W3136705488 startingPage "e1009108" @default.
- W3136705488 abstract "Haplolethals (HL) are regions of diploid genomes that in one dose are fatal for the organism. Their biological meaning is obscure because heterozygous loss-of-function mutations result in dominant lethality (DL) and, consequently, should be under strong negative selection. We report an in depth study of the HL associated to the gene wings up A ( wupA ). It encodes 13 transcripts (A-M) that yield 11 protein isoforms (A-K) of Troponin I (TnI). They are functionally diverse in their control of muscle contraction, cell polarity and cell proliferation. Isoform K transfers to the nucleus where it increases transcription of the cell proliferation related genes CDK2 , CDK4 , Rap and Rab5 . The nuclear translocation of isoform K is prevented by the co-expression of A or B isoforms, which illustrates isoform interactions. The corresponding DL mutations are, either DNA rearrangements clustered towards the gene 3’ end, thus affecting the genomic organization of all transcripts, or CRISPR-induced mutations in one of the two ATG sites which eliminate a subset of wupA products. The joint elimination of isoforms C, F, G and H, however, do not cause DL phenotypes. Genetically driven expression of single isoforms rescue neither DL nor any of the mutants known in the gene, suggesting that normal function requires properly regulated expression of specific combinations, rather than single, TnI isoforms. We conclude that the wupA associated HL results from the combined haploinsufficiency of a large set of TnI isoforms. The qualitative and quantitative normal expression of which, requires the chromosomal integrity of the wupA genomic region. Since all fly TnI isoforms are encoded in the same gene, its HL condition becomes unavoidable. These wupA features are comparable to those of dpp , the only other HL studied to some extent, and reveal a scenario of strict dosage dependence with implications for gene expression regulation and splitting." @default.
- W3136705488 created "2021-03-29" @default.
- W3136705488 creator A5020451832 @default.
- W3136705488 creator A5075676100 @default.
- W3136705488 date "2021-03-19" @default.
- W3136705488 modified "2023-09-26" @default.
- W3136705488 title "The haplolethality paradox of the wupA gene in Drosophila" @default.
- W3136705488 cites W1782083210 @default.
- W3136705488 cites W2050009750 @default.
- W3136705488 cites W2050140570 @default.
- W3136705488 cites W2100917533 @default.
- W3136705488 cites W2998537925 @default.
- W3136705488 doi "https://doi.org/10.1371/journal.pgen.1009108" @default.
- W3136705488 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8011728" @default.
- W3136705488 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33739971" @default.
- W3136705488 hasPublicationYear "2021" @default.
- W3136705488 type Work @default.
- W3136705488 sameAs 3136705488 @default.
- W3136705488 citedByCount "2" @default.
- W3136705488 countsByYear W31367054882023 @default.
- W3136705488 crossrefType "journal-article" @default.
- W3136705488 hasAuthorship W3136705488A5020451832 @default.
- W3136705488 hasAuthorship W3136705488A5075676100 @default.
- W3136705488 hasBestOaLocation W31367054881 @default.
- W3136705488 hasConcept C104317684 @default.
- W3136705488 hasConcept C127716648 @default.
- W3136705488 hasConcept C143065580 @default.
- W3136705488 hasConcept C150194340 @default.
- W3136705488 hasConcept C153911025 @default.
- W3136705488 hasConcept C53345823 @default.
- W3136705488 hasConcept C54355233 @default.
- W3136705488 hasConcept C55548728 @default.
- W3136705488 hasConcept C68838962 @default.
- W3136705488 hasConcept C86803240 @default.
- W3136705488 hasConceptScore W3136705488C104317684 @default.
- W3136705488 hasConceptScore W3136705488C127716648 @default.
- W3136705488 hasConceptScore W3136705488C143065580 @default.
- W3136705488 hasConceptScore W3136705488C150194340 @default.
- W3136705488 hasConceptScore W3136705488C153911025 @default.
- W3136705488 hasConceptScore W3136705488C53345823 @default.
- W3136705488 hasConceptScore W3136705488C54355233 @default.
- W3136705488 hasConceptScore W3136705488C55548728 @default.
- W3136705488 hasConceptScore W3136705488C68838962 @default.
- W3136705488 hasConceptScore W3136705488C86803240 @default.
- W3136705488 hasFunder F4320315062 @default.
- W3136705488 hasIssue "3" @default.
- W3136705488 hasLocation W31367054881 @default.
- W3136705488 hasLocation W31367054882 @default.
- W3136705488 hasLocation W31367054883 @default.
- W3136705488 hasLocation W31367054884 @default.
- W3136705488 hasOpenAccess W3136705488 @default.
- W3136705488 hasPrimaryLocation W31367054881 @default.
- W3136705488 hasRelatedWork W1530845363 @default.
- W3136705488 hasRelatedWork W1647925169 @default.
- W3136705488 hasRelatedWork W1968643238 @default.
- W3136705488 hasRelatedWork W2009966535 @default.
- W3136705488 hasRelatedWork W2030205636 @default.
- W3136705488 hasRelatedWork W2034103052 @default.
- W3136705488 hasRelatedWork W2043199743 @default.
- W3136705488 hasRelatedWork W2117110650 @default.
- W3136705488 hasRelatedWork W2143066563 @default.
- W3136705488 hasRelatedWork W2157166663 @default.
- W3136705488 hasVolume "17" @default.
- W3136705488 isParatext "false" @default.
- W3136705488 isRetracted "false" @default.
- W3136705488 magId "3136705488" @default.
- W3136705488 workType "article" @default.