Disruption of OTC Promoter-enhancer Interaction in a Patient with Symptoms of Ornithine Carbamoyltransferase Deficiency

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F10%3A7700" target="_blank" >RIV/00216208:11110/10:7700 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/10:7700

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Disruption of OTC Promoter-enhancer Interaction in a Patient with Symptoms of Ornithine Carbamoyltransferase Deficiency

Original language description

Transcription start sites, promoter and enhancer regions of the of human OTC gene are described. We report the first patient in which the only variation found was a nucleotide substitution in promoter region. We found that transcriptional activity of human OTC promoter depends on an upstream enhancer. The promoter ? enhancer interaction contributes to tissue specific expression of OTC in the liver. A unique nucleotide substitution in the promoter does not affect the function of the promoter alone but itdisrupts its interaction with the enhancer.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

<a href="/en/project/NR9364" target="_blank" >NR9364: Regulation of the gene expression and new approaches to the molecular diagnostics of the ornithine transcarbamylase deficiency</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2010

Confidentiality

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

Name of the periodical

Human Mutation

ISSN

1059-7794

e-ISSN

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Volume of the periodical

31

Issue of the periodical within the volume

4

Country of publishing house

US - UNITED STATES

Number of pages

10

Pages from-to

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UT code for WoS article

000279981900004

EID of the result in the Scopus database

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