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

• 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

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.

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