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In silico transcriptional regulation and functional analysis of dengue shock syndrome associated SNPs in PLCE1 and MICB genes
Taqi, M.M. Waseem, D. Ismatullah, H. Haider, S.A.
Taqi, M.M.
Waseem, D.
Ismatullah, H.
Haider, S.A.
Publication Date
2016-05
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© 2016 The Author(s). This is an Open Access article distributed under the Creative Commons CC-BY license (https://creativecommons.org/licenses/by/4.0/)
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Open Access status
openAccess
Accepted for publication
2016-03-17
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Abstract
Single nucleotide polymorphisms (SNPs) in PLCE1
and MICB genes increase risk for the development of dengue
shock syndrome (DSS). We used Bioinformatics tools to predict
alterations at the transcriptional and posttranslational levels
driven by PLCE1 and MICB SNPs associated with DSS.
Functional and phenotypic analysis conducted to determine
deleterious SNPs and impact of amino acid substitution on
the structure and function of proteins identified rs2274223
(H1619R) as deleterious to protein coding as it induces structural
change in the C2 domain of PLCε, with the mutant residue
more positively charged than the wild-type residue (RMSD
score, 1.75 Å).Moreover, rs2274223 condenses the chromatinrepressing
PLCε expression in DSS. Briefly, this study presents
the impact of a single nucleotide transition at SNPs associated
with DSS on differential protein binding patterns with PLCE1
and MICB genes and on protein structure modification and their
possible role in the pathogenesis of DSS.
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Published version
Citation
Taqi MM, Waseem D, Ismatullah H et al (2016) In silico transcriptional regulation and functional analysis of dengue shock syndrome associated SNPs in
PLCE1 and MICB genes. Functional & Integrative Genomics. 16(3): 335-345.
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Article