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Statements

Subject Item
n2:RIV%2F00023001%3A_____%2F12%3A00056112%21RIV13-MZ0-00023001
rdf:type
skos:Concept n7:Vysledek
rdfs:seeAlso
http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0051650
dcterms:description
Background: Mutations in ATP8B1 gene were identified as a cause of low gamma-glutamyltranspeptidase cholestasis with variable phenotype, ranging from Progressive Familial Intrahepatic Cholestasis to Benign Recurrent Intrahepatic Cholestasis. However, only the coding region of ATP8B1 has been described. The aim of this research was to explore the regulatory regions, promoter and 5'untranslated region, of the ATP8B1 gene. Methodology/Principal Findings: 5'Rapid Amplification of cDNA Ends using human liver and intestinal tissue was performed to identify the presence of 59 untranslated exons. Expression levels of ATP8B1 transcripts were determined by quantitative reverse-transcription PCR and compared with the non-variable part of ATP8B1. Three putative promoters were examined in vitro using a reporter gene assay and the main promoter was stimulated with chenodeoxycholic acid. Four novel untranslated exons located up to 71 kb upstream of the previously published exon 1 and twelve different splicing variants were found both in the liver and the intestine. Multiple transcription start sites were identified within exon -3 and the proximal promoter upstream of this transcription start site cluster was proven to be an essential regulatory element responsible for 70% of total ATP8B1 transcriptional activity. In vitro analysis demonstrated that the main promoter drives constitutive ATP8B1 gene expression independent of bile acids. Conclusions/Significance: The structure of the ATP8B1 gene is complex and the previously published transcription start site is not significant. The basal expression of ATP8B1 is driven by a housekeeping-like promoter located 71 kb upstream of the first protein coding exon. Background: Mutations in ATP8B1 gene were identified as a cause of low gamma-glutamyltranspeptidase cholestasis with variable phenotype, ranging from Progressive Familial Intrahepatic Cholestasis to Benign Recurrent Intrahepatic Cholestasis. However, only the coding region of ATP8B1 has been described. The aim of this research was to explore the regulatory regions, promoter and 5'untranslated region, of the ATP8B1 gene. Methodology/Principal Findings: 5'Rapid Amplification of cDNA Ends using human liver and intestinal tissue was performed to identify the presence of 59 untranslated exons. Expression levels of ATP8B1 transcripts were determined by quantitative reverse-transcription PCR and compared with the non-variable part of ATP8B1. Three putative promoters were examined in vitro using a reporter gene assay and the main promoter was stimulated with chenodeoxycholic acid. Four novel untranslated exons located up to 71 kb upstream of the previously published exon 1 and twelve different splicing variants were found both in the liver and the intestine. Multiple transcription start sites were identified within exon -3 and the proximal promoter upstream of this transcription start site cluster was proven to be an essential regulatory element responsible for 70% of total ATP8B1 transcriptional activity. In vitro analysis demonstrated that the main promoter drives constitutive ATP8B1 gene expression independent of bile acids. Conclusions/Significance: The structure of the ATP8B1 gene is complex and the previously published transcription start site is not significant. The basal expression of ATP8B1 is driven by a housekeeping-like promoter located 71 kb upstream of the first protein coding exon.
dcterms:title
ATP8B1 gene expression is driven by a housekeeping-like promoter independent of bile acids and farnesoid X receptor ATP8B1 gene expression is driven by a housekeeping-like promoter independent of bile acids and farnesoid X receptor
skos:prefLabel
ATP8B1 gene expression is driven by a housekeeping-like promoter independent of bile acids and farnesoid X receptor ATP8B1 gene expression is driven by a housekeeping-like promoter independent of bile acids and farnesoid X receptor
skos:notation
RIV/00023001:_____/12:00056112!RIV13-MZ0-00023001
n7:predkladatel
n8:ico%3A00023001
n3:aktivita
n17:I
n3:aktivity
I
n3:cisloPeriodika
12
n3:dodaniDat
n4:2013
n3:domaciTvurceVysledku
n12:7545622 n12:8021104
n3:druhVysledku
n16:J
n3:duvernostUdaju
n10:S
n3:entitaPredkladatele
n19:predkladatel
n3:idSjednocenehoVysledku
124031
n3:idVysledku
RIV/00023001:_____/12:00056112
n3:jazykVysledku
n13:eng
n3:klicovaSlova
TRANSCRIPTION; MESSENGER-RNA; EPITHELIAL-CELLS; UNTRANSLATED REGIONS; CANALICULAR MEMBRANE; 5'-UNTRANSLATED REGION; HEREDITARY CHOLESTASIS; TRANSLATIONAL REGULATION; OPEN READING FRAME; FAMILIAL INTRAHEPATIC CHOLESTASIS
n3:klicoveSlovo
n9:TRANSLATIONAL%20REGULATION n9:OPEN%20READING%20FRAME n9:FAMILIAL%20INTRAHEPATIC%20CHOLESTASIS n9:HEREDITARY%20CHOLESTASIS n9:MESSENGER-RNA n9:EPITHELIAL-CELLS n9:TRANSCRIPTION n9:UNTRANSLATED%20REGIONS n9:CANALICULAR%20MEMBRANE n9:5%27-UNTRANSLATED%20REGION
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[0AA2B6AB170D]
n3:nazevZdroje
PLoS ONE
n3:obor
n18:EB
n3:pocetDomacichTvurcuVysledku
2
n3:pocetTvurcuVysledku
5
n3:rokUplatneniVysledku
n4:2012
n3:svazekPeriodika
7
n3:tvurceVysledku
Strautnieks, Sandra S. Byrne, Jane A. Cebecauerová, Dita Thompson, Richard J. Jirsa, Milan
n3:wos
000312201900112
s:issn
1932-6203
s:numberOfPages
10
n14:doi
10.1371/journal.pone.0051650