ATP8B1 gene expression is driven by a housekeeping-like promoter independent of bile acids and farnesoid X receptor

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F12%3A00056112" target="_blank" >RIV/00023001:_____/12:00056112 - isvavai.cz</a>

Výsledek na webu

<a href="http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0051650" target="_blank" >http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0051650</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1371/journal.pone.0051650" target="_blank" >10.1371/journal.pone.0051650</a>

Jazyk výsledku

angličtina

Název v původním jazyce

ATP8B1 gene expression is driven by a housekeeping-like promoter independent of bile acids and farnesoid X receptor

Popis výsledku v původním jazyce

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 liverand 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

Název v anglickém jazyce

ATP8B1 gene expression is driven by a housekeeping-like promoter independent of bile acids and farnesoid X receptor

Popis výsledku anglicky

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 liverand 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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2012

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

PLoS ONE

ISSN

1932-6203

e-ISSN

—

Svazek periodika

7

Číslo periodika v rámci svazku

12

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

10

Strana od-do

"e51650"

Kód UT WoS článku

000312201900112

EID výsledku v databázi Scopus

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