SERPING1 exon 3 splicing variants using alternative acceptor splice sites

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00209775%3A_____%2F19%3AN0000012" target="_blank" >RIV/00209775:_____/19:N0000012 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14110/19:00108492

Result on the web

<a href="https://www.sciencedirect.com/science/article/pii/S0161589018309295" target="_blank" >https://www.sciencedirect.com/science/article/pii/S0161589018309295</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.molimm.2019.01.007" target="_blank" >10.1016/j.molimm.2019.01.007</a>

Result language

angličtina

Original language name

SERPING1 exon 3 splicing variants using alternative acceptor splice sites

Original language description

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.

Czech name

—

Czech description

—

Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

10608 - Biochemistry and molecular biology

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2019

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Molecular Immunology

ISSN

0161-5890

e-ISSN

—

Volume of the periodical

107

Issue of the periodical within the volume

January 2019

Country of publishing house

GB - UNITED KINGDOM

Number of pages

6

Pages from-to

91-96

UT code for WoS article

000459951400012

EID of the result in the Scopus database

2-s2.0-85060334154