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@article{1545814,
author = {Grymová, Tereza and Grodecká, Lucie and Souček, Přemysl and Freiberger, Tomáš},
article_location = {OXFORD},
article_number = {MAR 2019},
doi = {http://dx.doi.org/10.1016/j.molimm.2019.01.007},
keywords = {Alternative splicing; Acceptor splice site; SERPING1; Exon 3; Hereditary angioedema},
language = {eng},
issn = {0161-5890},
journal = {Molecular Immunology},
title = {SERPING1 exon 3 splicing variants using alternative acceptor splice sites},
url = {http://dx.doi.org/10.1016/j.molimm.2019.01.007},
volume = {107},
year = {2019}
}
TY - JOUR
ID - 1545814
AU - Grymová, Tereza - Grodecká, Lucie - Souček, Přemysl - Freiberger, Tomáš
PY - 2019
TI - SERPING1 exon 3 splicing variants using alternative acceptor splice sites
JF - Molecular Immunology
VL - 107
IS - MAR 2019
SP - 91-96
EP - 91-96
PB - PERGAMON-ELSEVIER SCIENCE LTD
SN - 01615890
KW - Alternative splicing
KW - Acceptor splice site
KW - SERPING1
KW - Exon 3
KW - Hereditary angioedema
UR - http://dx.doi.org/10.1016/j.molimm.2019.01.007
L2 - http://dx.doi.org/10.1016/j.molimm.2019.01.007
N2 - Mutations in the C1 inhibitor (C1INH) encoding gene, SERPING1, are associated with hereditary angioedema (HAE) which manifests as recurrent submucosal and subcutaneous edema episodes. The major C1INH function is the complement system inhibition, preventing its spontaneous activation. The presented study is focused on SERPING1 exon 3, an alternative and extraordinarily long exon (499 bp). Endogenous expression analysis performed in the HepG2, human liver, and human peripheral blood cells revealed several exon 3 splicing variants alongside exon inclusion: a highly prevalent exon skipping variant and less frequent +38 and -15 variants with alternative 3' splice sites (ss) located 38 and 15 nucleotides downstream and upstream from the authentic 3' ss, respectively. An exon skipping variant introducing a premature stop codon, represented nearly one third of all splicing variants and surprisingly appeared not to be degraded by NMD. The alternative -15 3' ss was used to a small extent, although predicted to be extremely weak. Its use was shown to be independent of its strength and highly sensitive to any changes in the surrounding sequence. -15 3' ss seems to be co-regulated with the authentic 3' ss, whose use is dependent mainly on its strength and less on the presence of intronic regulatory motifs. Subtle SERPING1 exon 3 splicing regulation can contribute to overall C1INH plasma levels and HAE pathogenesis.
ER -
GRYMOVÁ, Tereza, Lucie GRODECKÁ, Přemysl SOUČEK a Tomáš FREIBERGER. SERPING1 exon 3 splicing variants using alternative acceptor splice sites. \textit{Molecular Immunology}. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD, roč.~107, MAR 2019, s.~91-96. ISSN~0161-5890. doi:10.1016/j.molimm.2019.01.007. 2019.
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