ß-Thalassemia Due to Intronic LINE-1 Insertion in the ß-Globin Gene (HBB): Molecular Mechanisms Underlying Reduced Transcript Levels of the ß-GlobinL1 Allele

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F13%3A33144967" target="_blank" >RIV/61989592:15110/13:33144967 - isvavai.cz</a>
Alternative codes found
RIV/00098892:_____/13:#0000525
Result on the web
<a href="http://onlinelibrary.wiley.com/doi/10.1002/humu.22383/full" target="_blank" >http://onlinelibrary.wiley.com/doi/10.1002/humu.22383/full</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/humu.22383" target="_blank" >10.1002/humu.22383</a>

Result language
angličtina
Original language name
ß-Thalassemia Due to Intronic LINE-1 Insertion in the ß-Globin Gene (HBB): Molecular Mechanisms Underlying Reduced Transcript Levels of the ß-GlobinL1 Allele
Original language description
We describe the molecular etiology of ß(+) -thalassemia that is caused by the insertion of the full-length transposable element LINE-1 (L1) into the intron-2 of the ß-globin gene (HBB). The transcript level of the affected ß-globin gene was severely reduced. The remaining transcripts consisted of full-length, correctly processed ß-globin mRNA and a minute amount of three aberrantly spliced transcripts with a decreased half-life due to activation of the nonsense-mediated decay pathway. The lower steady-state amount of mRNA produced by the ß-globinL1 allele also resulted from a reduced rate of transcription and decreased production of full-length ß-globin primary transcripts. The promoter and enhancer sequences of the ß-globinL1 allele were hypermethylated; however, treatment with a demethylating agent did not restore the impaired transcription. A histone deacetylase inhibitor partially reactivated the ß-globinL1 transcription despite permanent ß-globinL1 promoter CpG methylation. This r
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>S - Specificky vyzkum na vysokych skolach

Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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