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
Attached files	Novy_dokument_Blahakova.pdf
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.
Related projects:	Searching and functional testing of gene variants predisposing to familial haematopoietic disorders National institute for cancer research