FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2797188373> ?p ?o ?g. }

• W2797188373 endingPage "2186" @default.
• W2797188373 startingPage "2171" @default.
• W2797188373 abstract "The human general transcription factor TFIID is composed of the TATA-binding protein (TBP) and 13 TBP-associated factors (TAFs). In eukaryotic cells, TFIID is thought to nucleate RNA polymerase II (Pol II) preinitiation complex formation on all protein coding gene promoters and thus, be crucial for Pol II transcription. In a child with intellectual disability, mild microcephaly, corpus callosum agenesis and poor growth, we identified a homozygous splice-site mutation in TAF8 (NM_138572.2: c.781–1G > A). Our data indicate that the patient’s mutation generates a frame shift and an unstable TAF8 mutant protein with an unrelated C-terminus. The mutant TAF8 protein could not be detected in extracts from the patient’s fibroblasts, indicating a loss of TAF8 function and that the mutation is most likely causative. Moreover, our immunoprecipitation and proteomic analyses show that in patient cells only partial TAF complexes exist and that the formation of the canonical TFIID is impaired. In contrast, loss of TAF8 in mouse embryonic stem cells and blastocysts leads to cell death and to a global decrease in Pol II transcription. Astonishingly however, in human TAF8 patient cells, we could not detect any cellular phenotype, significant changes in genome-wide Pol II occupancy and pre-mRNA transcription. Thus, the disorganization of the essential holo-TFIID complex did not affect global Pol II transcription in the patient’s fibroblasts. Our observations further suggest that partial TAF complexes, and/or an altered TFIID containing a mutated TAF8, could support human development and thus, the absence of holo-TFIID is less deleterious for transcription than originally predicted." @default.
• W2797188373 created "2018-04-24" @default.
• W2797188373 creator A5002552757 @default.
• W2797188373 creator A5008935823 @default.
• W2797188373 creator A5012109765 @default.
• W2797188373 creator A5012233353 @default.
• W2797188373 creator A5017404099 @default.
• W2797188373 creator A5023141316 @default.
• W2797188373 creator A5042848023 @default.
• W2797188373 creator A5049695099 @default.
• W2797188373 creator A5050532805 @default.
• W2797188373 creator A5057534469 @default.
• W2797188373 creator A5061782826 @default.
• W2797188373 creator A5064154151 @default.
• W2797188373 creator A5071643873 @default.
• W2797188373 creator A5078083260 @default.
• W2797188373 creator A5091178241 @default.
• W2797188373 date "2018-04-10" @default.
• W2797188373 modified "2023-10-18" @default.
• W2797188373 title "Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription" @default.
• W2797188373 cites W1481160548 @default.
• W2797188373 cites W1694587304 @default.
• W2797188373 cites W1768274470 @default.
• W2797188373 cites W1964719409 @default.
• W2797188373 cites W1968107179 @default.
• W2797188373 cites W1969218837 @default.
• W2797188373 cites W1982826808 @default.
• W2797188373 cites W1985293164 @default.
• W2797188373 cites W1988550308 @default.
• W2797188373 cites W1990827000 @default.
• W2797188373 cites W1991298006 @default.
• W2797188373 cites W2001130038 @default.
• W2797188373 cites W2001773359 @default.
• W2797188373 cites W2005781563 @default.
• W2797188373 cites W2008738118 @default.
• W2797188373 cites W2023545713 @default.
• W2797188373 cites W2024797253 @default.
• W2797188373 cites W2024800350 @default.
• W2797188373 cites W2053894359 @default.
• W2797188373 cites W2058521801 @default.
• W2797188373 cites W2061870277 @default.
• W2797188373 cites W2062865836 @default.
• W2797188373 cites W2067450448 @default.
• W2797188373 cites W2068680020 @default.
• W2797188373 cites W2069121904 @default.
• W2797188373 cites W2076532555 @default.
• W2797188373 cites W2092683305 @default.
• W2797188373 cites W2098644602 @default.
• W2797188373 cites W2110080640 @default.
• W2797188373 cites W2114364233 @default.
• W2797188373 cites W2116564906 @default.
• W2797188373 cites W2119194938 @default.
• W2797188373 cites W2123254545 @default.
• W2797188373 cites W2125270610 @default.
• W2797188373 cites W2128378864 @default.
• W2797188373 cites W2129611261 @default.
• W2797188373 cites W2135229538 @default.
• W2797188373 cites W2138196920 @default.
• W2797188373 cites W2146400029 @default.
• W2797188373 cites W2151214732 @default.
• W2797188373 cites W2155933313 @default.
• W2797188373 cites W2163406927 @default.
• W2797188373 cites W2165515782 @default.
• W2797188373 cites W2166827228 @default.
• W2797188373 cites W2169482727 @default.
• W2797188373 cites W2170070980 @default.
• W2797188373 cites W2171808845 @default.
• W2797188373 cites W2184580009 @default.
• W2797188373 cites W2265803240 @default.
• W2797188373 cites W2328496340 @default.
• W2797188373 cites W2412094269 @default.
• W2797188373 cites W2537132940 @default.
• W2797188373 cites W2544357312 @default.
• W2797188373 cites W2591851215 @default.
• W2797188373 cites W2591909999 @default.
• W2797188373 cites W2755920386 @default.
• W2797188373 cites W2756090764 @default.
• W2797188373 cites W2763056979 @default.
• W2797188373 cites W37563372 @default.
• W2797188373 cites W4232123327 @default.
• W2797188373 cites W4234586755 @default.
• W2797188373 doi "https://doi.org/10.1093/hmg/ddy126" @default.
• W2797188373 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5985725" @default.
• W2797188373 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29648665" @default.
• W2797188373 hasPublicationYear "2018" @default.
• W2797188373 type Work @default.
• W2797188373 sameAs 2797188373 @default.
• W2797188373 citedByCount "20" @default.
• W2797188373 countsByYear W27971883732017 @default.
• W2797188373 countsByYear W27971883732018 @default.
• W2797188373 countsByYear W27971883732019 @default.
• W2797188373 countsByYear W27971883732021 @default.
• W2797188373 countsByYear W27971883732022 @default.
• W2797188373 crossrefType "journal-article" @default.
• W2797188373 hasAuthorship W2797188373A5002552757 @default.
• W2797188373 hasAuthorship W2797188373A5008935823 @default.
• W2797188373 hasAuthorship W2797188373A5012109765 @default.
• W2797188373 hasAuthorship W2797188373A5012233353 @default.

• next