Mutation analysis of TRPS1 gene including core promoter, 5 ' UTR, and 3 ' UTR regulatory sequences with insight into their organization

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F17%3A10362722" target="_blank" >RIV/00216208:11110/17:10362722 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11310/17:10362722 RIV/00064165:_____/17:10362722 RIV/65269705:_____/17:00075966

Result on the web

<a href="http://dx.doi.org/10.1016/j.cca.2016.11.007" target="_blank" >http://dx.doi.org/10.1016/j.cca.2016.11.007</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.cca.2016.11.007" target="_blank" >10.1016/j.cca.2016.11.007</a>

Result language

angličtina

Original language name

Mutation analysis of TRPS1 gene including core promoter, 5 ' UTR, and 3 ' UTR regulatory sequences with insight into their organization

Original language description

The TRPS1 protein is a potent regulator of proliferation, differentiation, and apoptosis. The TRPS1 gene aberrations are strongly associated with rare trichorhinophalangeal syndrome (TRPS) development. We have conducted MLPA analysis to capture deletion within the crucial 8q24.1 chromosomal region in combination with mutation analysis of TRPS1 gene including core promoter, 5&apos;UTR, and 3&apos;UTR sequences in nine TRPS patients. Low complexity or extent of untranslated regulatory sequences avoided them from analysis in previous studies. Amplicon based next generation sequencing used in our study bridge over these technical limitations. Finally, we have made extended in silico analysis of TRPS1 gene regulatory sequences organization. Single contiguous deletion and an intragenic deletion intervening several exons were detected. Mutation analysis revealed five TRPS1 gene aberrations (two structural rearrangements, two nonsense mutations, and one missense substitution) reaching the overall detection rate of 78%. Several polymorphic variants were detected within the analysed regulatory sequences but without proposed pathogenic effect. In silico analysis suggested alternative promoter usage and diverse expression effectivity for different TRPS1 transcripts. Haploinsufficiency of TRPS1 gene was responsible for most of the TRPS phenotype. Structure of TRPS1 gene regulatory sequences is indicative of generally low single allele expression and its tight control.

Czech name

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Czech description

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Type

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

CEP classification

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OECD FORD branch

10600 - Biological sciences

Project

—

Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2017

Confidentiality

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

Name of the periodical

Clinica Chimica Acta

ISSN

0009-8981

e-ISSN

—

Volume of the periodical

464

Issue of the periodical within the volume

January

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

7

Pages from-to

30-36

UT code for WoS article

000393003600006

EID of the result in the Scopus database

2-s2.0-84994618787