Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes

Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes

Copyright © 2017 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 180(2017) vom: 01. Juli, Seite 33-44
1. Verfasser: Grodecká, Lucie (VerfasserIn)
Weitere Verfasser: Hujová, Pavla, Kramárek, Michal, Kršjaková, Tereza, Kováčová, Tatiana, Vondrášková, Katarína, Ravčuková, Barbora, Hrnčířová, Kristýna, Souček, Přemysl, Freiberger, Tomáš
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2017
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Journal Article Cryptic splice sites Primary immunodeficiencies Splicing prediction Splicing-affecting variants CD40LIg fusion protein Complement C1 Inactivator Proteins Complement C1 Inhibitor Protein IL2RG protein, human Interleukin Receptor Common gamma Subunit mehr... RNA, Messenger Recombinant Fusion Proteins SERPING1 protein, human STAT3 Transcription Factor STAT3 protein, human WAS protein, human Wiskott-Aldrich Syndrome Protein Protein-Tyrosine Kinases EC 2.7.10.1 Agammaglobulinaemia Tyrosine Kinase EC 2.7.10.2 BTK protein, human
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100 1 |a Grodecká, Lucie  |e verfasserin  |4 aut 
245 1 0 |a Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes 
264 1 |c 2017 
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500 |a Date Revised 02.12.2018 
500 |a published: Print-Electronic 
500 |a Citation Status MEDLINE 
520 |a Copyright © 2017 Elsevier Inc. All rights reserved. 
520 |a Both variants affecting splice sites and those in splicing regulatory elements (SREs) can impair pre-mRNA splicing, eventually leading to severe diseases. Despite the availability of many prediction tools, prognosis of splicing affection is not trivial, especially when SREs are involved. Here, we present data on 92 in silico-/55 minigene-analysed variants detected in genes responsible for the primary immunodeficiencies development (namely BTK, CD40LG, IL2RG, SERPING1, STAT3, and WAS). Of 20 splicing-affecting variants, 16 affected splice site while 4 disrupted potential SRE. The presence or absence of splicing defects was confirmed in 30 of 32 blood-derived patients' RNAs. Testing prediction tools performance, splice site disruptions and creations were reliably predicted in contrast to SRE-affecting variants for which just ESRseq, ΔHZEI-scores and EX-SKIP predictions showed promising results. Next, we found an interesting pattern in cryptic splice site predictions. These results might help PID-diagnosticians and geneticists cope with potential splicing-affecting variants 
650 4 |a Journal Article 
650 4 |a Cryptic splice sites 
650 4 |a Primary immunodeficiencies 
650 4 |a Splicing prediction 
650 4 |a Splicing-affecting variants 
650 7 |a CD40LIg fusion protein  |2 NLM 
650 7 |a Complement C1 Inactivator Proteins  |2 NLM 
650 7 |a Complement C1 Inhibitor Protein  |2 NLM 
650 7 |a IL2RG protein, human  |2 NLM 
650 7 |a Interleukin Receptor Common gamma Subunit  |2 NLM 
650 7 |a RNA, Messenger  |2 NLM 
650 7 |a Recombinant Fusion Proteins  |2 NLM 
650 7 |a SERPING1 protein, human  |2 NLM 
650 7 |a STAT3 Transcription Factor  |2 NLM 
650 7 |a STAT3 protein, human  |2 NLM 
650 7 |a WAS protein, human  |2 NLM 
650 7 |a Wiskott-Aldrich Syndrome Protein  |2 NLM 
650 7 |a Protein-Tyrosine Kinases  |2 NLM 
650 7 |a EC 2.7.10.1  |2 NLM 
650 7 |a Agammaglobulinaemia Tyrosine Kinase  |2 NLM 
650 7 |a EC 2.7.10.2  |2 NLM 
650 7 |a BTK protein, human  |2 NLM 
650 7 |a EC 2.7.10.2  |2 NLM 
700 1 |a Hujová, Pavla  |e verfasserin  |4 aut 
700 1 |a Kramárek, Michal  |e verfasserin  |4 aut 
700 1 |a Kršjaková, Tereza  |e verfasserin  |4 aut 
700 1 |a Kováčová, Tatiana  |e verfasserin  |4 aut 
700 1 |a Vondrášková, Katarína  |e verfasserin  |4 aut 
700 1 |a Ravčuková, Barbora  |e verfasserin  |4 aut 
700 1 |a Hrnčířová, Kristýna  |e verfasserin  |4 aut 
700 1 |a Souček, Přemysl  |e verfasserin  |4 aut 
700 1 |a Freiberger, Tomáš  |e verfasserin  |4 aut 
773 0 8 |i Enthalten in  |t Clinical immunology (Orlando, Fla.)  |d 1999  |g 180(2017) vom: 01. Juli, Seite 33-44  |w (DE-627)NLM098196855  |x 1521-7035  |7 nnns 
773 1 8 |g volume:180  |g year:2017  |g day:01  |g month:07  |g pages:33-44 
856 4 0 |u http://dx.doi.org/10.1016/j.clim.2017.03.010  |3 Volltext 
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