| SOUČEK, Přemysl, Ivona BLAHÁKOVÁ, Kamila RÉBLOVÁ, Michael DOUBEK, Jakub TRIZULJAK, Rastislav BEHARKA, Robert HELMA, Zuzana VRZALOVÁ, Kateřina STAŇO KOZUBÍK, Šárka POSPÍŠILOVÁ and Tomáš FREIBERGER. Impact of an intronic variant in RAD50 on RNA splicing due to inefficient branch point recognition. In European Human Genetics Conference (ESHG), Glasgow, United Kingdom. 2023. |
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@proceedings{2360060,
author = {Souček, Přemysl and Blaháková, Ivona and Réblová, Kamila and Doubek, Michael and Trizuljak, Jakub and Beharka, Rastislav and Helma, Robert and Vrzalová, Zuzana and Staňo Kozubík, Kateřina and Pospíšilová, Šárka and Freiberger, Tomáš},
booktitle = {European Human Genetics Conference (ESHG), Glasgow, United Kingdom},
keywords = {Intronic variants; RNA splicing; RAD50 gene; MaxEntScan; LaBranchoR},
language = {eng},
title = {Impact of an intronic variant in RAD50 on RNA splicing due to inefficient branch point recognition.},
url = {https://eshg2018.floq.live/event/eshg2023/search?objectClass=timeslot&objectId=645954e15d10763cee46a7f9&type=detail},
year = {2023}
}
TY - CONF
ID - 2360060
AU - Souček, Přemysl - Blaháková, Ivona - Réblová, Kamila - Doubek, Michael - Trizuljak, Jakub - Beharka, Rastislav - Helma, Robert - Vrzalová, Zuzana - Staňo Kozubík, Kateřina - Pospíšilová, Šárka - Freiberger, Tomáš
PY - 2023
TI - Impact of an intronic variant in RAD50 on RNA splicing due to inefficient branch point recognition.
KW - Intronic variants
KW - RNA splicing
KW - RAD50 gene
KW - MaxEntScan
KW - LaBranchoR
UR - https://eshg2018.floq.live/event/eshg2023/search?objectClass=timeslot&objectId=645954e15d10763cee46a7f9&type=detail
N2 - Intronic variants do not change a gene coding sequence but they can impact gene function via aberrant RNA splicing. The creation of a new AG dinucleotide in the AG exclusion zone of the acceptor splice site typically causes its utilization, or exon skipping. This kind of alteration was revealed in intron 15 of RAD50 gene (NM_005732.4:c.2525-13T>A). RAD50 gene is involved in sensing and repairing DNA damage. The computational prediction for the RAD50 variant’s potential impact on RNA splicing was predicted by SpliceAI and acceptor splice site strengths were calculated using MaxEntScan. Branch-point predictions were processed by LaBranchoR. The transcript profile was determined using two-step PCR followed by capillary electrophoresis. The quantification of mutated allele ratio was performed by a minigene assay.
ER -
SOUČEK, Přemysl, Ivona BLAHÁKOVÁ, Kamila RÉBLOVÁ, Michael DOUBEK, Jakub TRIZULJAK, Rastislav BEHARKA, Robert HELMA, Zuzana VRZALOVÁ, Kateřina STAŇO KOZUBÍK, Šárka POSPÍŠILOVÁ and Tomáš FREIBERGER. Impact of an intronic variant in RAD50 on RNA splicing due to inefficient branch point recognition. In \textit{European Human Genetics Conference (ESHG), Glasgow, United Kingdom}. 2023.
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