Intronová varianta v RAD50 způsobující neefektivní rozpoznávání místa větvení a neočekávaný aberantní sestřih.

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Title in English An intronic variant in RAD50 causing inefficient branch site recognition and unexpected aberrant splicing.
Authors

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

Year of publication 2023
Type Conference abstract
MU Faculty or unit

Central European Institute of Technology

Citation
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Description Intronic variants do not change the coding sequence of genes, but can affect their function through aberrant RNA splicing. The creation of a new AG dinucleotide in the acceptor splice site typically leads to its use, or to exon skipping. We detected a substitution of this type in the intron of 15 RAD50 genes (NM_005732.4:c.2525-13T>A), which is involved in the repair of damaged DNA.
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