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.

Basic information

Original name

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

Authors

SOUČEK, Přemysl (203 Czech Republic, belonging to the institution), Ivona BLAHÁKOVÁ (203 Czech Republic, belonging to the institution), Kamila RÉBLOVÁ (203 Czech Republic, belonging to the institution), Michael DOUBEK (203 Czech Republic, belonging to the institution), Jakub TRIZULJAK (703 Slovakia, belonging to the institution), Rastislav BEHARKA (703 Slovakia, belonging to the institution), Robert HELMA (203 Czech Republic, belonging to the institution), Zuzana VRZALOVÁ (203 Czech Republic, belonging to the institution), Kateřina STAŇO KOZUBÍK (203 Czech Republic, belonging to the institution), Šárka POSPÍŠILOVÁ (203 Czech Republic, guarantor, belonging to the institution) and Tomáš FREIBERGER (203 Czech Republic, belonging to the institution)

Edition

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

Other information

Language

English

Type of outcome

Konferenční abstrakt

Field of Study

10608 Biochemistry and molecular biology

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

RIV identification code

RIV/00216224:14740/23:00132995

Organization unit

Central European Institute of Technology

Keywords in English

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

Abstract

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.

Links

LX22NPO5102, research and development project

Name: Národní ústav pro výzkum rakoviny (Acronym: NÚVR)

Investor: Ministry of Education, Youth and Sports of the CR, National institute for cancer research, 5.1 EXCELES

NU20-08-00137, research and development project

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

Investor: Ministry of Health of the CR, Searching and functional testing of gene variants predisposing to familial haematopoietic disorders, Subprogram 1 - standard

Citovat

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

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