PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10292976" target="_blank" >RIV/00064203:_____/14:10292976 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/14:10292976

Result on the web

<a href="http://dx.doi.org/10.1093/hmg/ddu271" target="_blank" >http://dx.doi.org/10.1093/hmg/ddu271</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1093/hmg/ddu271" target="_blank" >10.1093/hmg/ddu271</a>

Result language

angličtina

Original language name

PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing

Original language description

Alternative splicing of the proteolipid protein 1 gene (PLP1) produces two forms, PLP1 and DM20, due to alternative use of 5' splice sites with the same acceptor site in intron 3. The PLP1 form predominates in central nervous system RNA. Mutations that reduce the ratio of PLP1 to DM20, whether mutant or normal protein is formed, result in the X-linked leukodystrophy Pelizaeus-Merzbacher disease (PMD). We investigated the ability of sequences throughout PLP1 intron 3 to regulate alternative splicing using a splicing minigene construct transfected into the oligodendrocyte cell line, Oli-neu. Our data reveal that the alternative splice of PLP1 is regulated by a long-distance interaction between two highly conserved elements that are separated by 581 baseswithin the 1071-base intron 3. Further, our data suggest that a base-pairing secondary structure forms between these two elements, and we demonstrate that mutations of either element designed to destabilize the secondary structure decrea

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

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

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Project

<a href="/en/project/NT14348" target="_blank" >NT14348: New generation sequencing and genotyping approaches of DNA analysis for effective and comprehensive molecular diagnostics of less common and novel types of hereditary neuropaties Charcot-Marie-Tooth.</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2014

Confidentiality

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

Name of the periodical

Human Molecular Genetics

ISSN

0964-6906

e-ISSN

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Volume of the periodical

23

Issue of the periodical within the volume

20

Country of publishing house

GB - UNITED KINGDOM

Number of pages

15

Pages from-to

5464-5478

UT code for WoS article

000343202400014

EID of the result in the Scopus database

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