Unknown

Dataset Information

0

In silico transcriptional regulation and functional analysis of dengue shock syndrome associated SNPs in PLCE1 and MICB genes.


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 PLC?, with the mutant residue more positively charged than the wild-type residue (RMSD score, 1.75 Å). Moreover, rs2274223 condenses the chromatin-repressing PLC? 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.

SUBMITTER: Taqi MM 

PROVIDER: S-EPMC4850189 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature

altmetric image

Publications

In silico transcriptional regulation and functional analysis of dengue shock syndrome associated SNPs in PLCE1 and MICB genes.

Taqi Malik Mumtaz MM   Waseem Durdana D   Ismatullah Humaira H   Haider Syed Aleem SA   Faisal Muhammad M  

Functional & integrative genomics 20160401 3


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 codin  ...[more]

Similar Datasets

| S-EPMC3223402 | biostudies-literature
| S-EPMC3594159 | biostudies-literature
| S-EPMC5466782 | biostudies-literature
| S-EPMC6150811 | biostudies-literature
| S-EPMC4422752 | biostudies-literature
| S-EPMC3713982 | biostudies-literature
| S-EPMC4037195 | biostudies-literature