Impact of an intronic variant in RAD50 on RNA splicing due to inefficient branch point recognition.

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Authors

SOUČEK Přemysl BLAHÁKOVÁ Ivona RÉBLOVÁ Kamila DOUBEK Michael TRIZULJAK Jakub BEHARKA Rastislav HELMA Robert VRZALOVÁ Zuzana STAŇO KOZUBÍK Kateřina POSPÍŠILOVÁ Šárka FREIBERGER Tomáš

Year of publication 2023
Type Conference abstract
MU Faculty or unit

Central European Institute of Technology

Citation
Description 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.
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