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

a 2023

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

SOUČEK, Přemysl; Ivona BLAHÁKOVÁ; Kamila RÉBLOVÁ; Michael DOUBEK; Jakub TRIZULJAK et al.

Základní údaje

Originální název

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

Autoři

Vydání

European Human Genetics Conference (ESHG), Glasgow, United Kingdom, 2023

Další údaje

Jazyk

angličtina

Typ výsledku

Konferenční abstrakt

Obor

10608 Biochemistry and molecular biology

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14740/23:00132995

Organizační jednotka

Středoevropský technologický institut

Klíčová slova anglicky

Intronic variants; RNA splicing; RAD50 gene; MaxEntScan; LaBranchoR

Štítky

NÚVR_CEITEC, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 22. 12. 2025 12:07, Mgr. Petra Trembecká, Ph.D.

Anotace

V originále

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.

Návaznosti

NU20-08-00137, projekt VaV

Název: Vyhledávání a funkční testování variant genů predisponujících k familiárním onemocněním krvetvorby

Investor: Ministerstvo zdravotnictví ČR, Vyhledávání a funkční testování variant genů predisponujících k familiárním onemocněním krvetvorby, Podprogram 1 - standardní

Citovat

SOUČEK, Přemysl; Ivona BLAHÁKOVÁ; Kamila RÉBLOVÁ; Michael DOUBEK; Jakub TRIZULJAK; Rastislav BEHARKA; Robert HELMA; Zuzana VRZALOVÁ; Kateřina STAŇO KOZUBÍK; Šárka POSPÍŠILOVÁ a 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.

@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 a 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.

Přehled o publikaci