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Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes
L. Grodecká, P. Hujová, M. Kramárek, T. Kršjaková, T. Kováčová, K. Vondrášková, B. Ravčuková, K. Hrnčířová, P. Souček, T. Freiberger,
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články
Grantová podpora
NV16-34414A
MZ0
CEP - Centrální evidence projektů
- MeSH
- buňky Hep G2 MeSH
- dítě MeSH
- exony MeSH
- HeLa buňky MeSH
- kojenec MeSH
- komplement C1 - inaktivátory genetika MeSH
- lidé MeSH
- messenger RNA genetika MeSH
- mutace MeSH
- předškolní dítě MeSH
- protein Wiskottova-Aldrichova syndromu genetika MeSH
- receptory interleukinů - společná gama-podjednotka genetika MeSH
- rekombinantní fúzní proteiny genetika MeSH
- sestřih RNA * MeSH
- syndromy imunologické nedostatečnosti genetika MeSH
- transkripční faktor STAT3 genetika MeSH
- tyrosinkinasy genetika MeSH
- U937 buňky MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- předškolní dítě MeSH
- Publikační typ
- časopisecké články MeSH
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.
Citace poskytuje Crossref.org
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- $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.
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