Preprint Article Version 1 This version is not peer-reviewed

Gene-Set Enrichment Analysis of Differentially Expressed Genes of Amniotic-Fluid RNA Providing Insights into the Phenotype of Turner’s Syndrome

Version 1 : Received: 12 October 2018 / Approved: 12 October 2018 / Online: 12 October 2018 (12:07:26 CEST)

How to cite: Saha, S.; Barmon, S. Gene-Set Enrichment Analysis of Differentially Expressed Genes of Amniotic-Fluid RNA Providing Insights into the Phenotype of Turner’s Syndrome . Preprints 2018, 2018100268 (doi: 10.20944/preprints201810.0268.v1). Saha, S.; Barmon, S. Gene-Set Enrichment Analysis of Differentially Expressed Genes of Amniotic-Fluid RNA Providing Insights into the Phenotype of Turner’s Syndrome . Preprints 2018, 2018100268 (doi: 10.20944/preprints201810.0268.v1).

Abstract

Genetic disorders are quite a major topic of discussion and debate in the recent world of biological sciences. Turner’s syndrome is one such disorder caused by a chromosome aneuploidy and it has characteristic symptoms in the patient or the affected individual.  The amniotic fluid is a complex biological material found in the amniotic sac of pregnant women and they can provide valuable knowledge and understanding of the pathogenesis of this particular chromosomal abnormality. In this study, global gene expression analysis of cell-free RNA in amniotic fluid supernatant was used to detect genes/organ systems which may be significant in the pathophysiology of Turner’s syndrome. The cell-free RNA from the amniotic fluid of five mid-trimester Turner’s syndrome fetuses and five euploid female fetuses matched for age of gestation were extracted, amplified and hybridized onto Affymetrix U33 Plus 2.0. array. The paired t-test was used to identify the significantly differentially regulated genes. Biological interpretation was conducted using ingenuity pathway analysis and BioGPS gene expression atlas. Of the genes, XIST was especially downregulated and SHOX was not expressed differentially. One of the most highly represented organ systems was the hematologic/immune system, differentiating the transcriptome of Turner’s syndrome from other chromosomal aneuploidies that are discussed in this area of science. The differences in the transcriptome of the Turner’s syndrome are due to genome-wide dysregulation. The hematologic/immune system differences are significant in early-onset autoimmune dysfunction. There are other genes which have been identified that are associated with the cardiovascular and the skeletal system, as these are often seen to be affected in the female patients with turner’s syndrome. Hopefully, such knowledge gained from this study will help us to understand the deeper mechanisms of this disorder and the possible treatments of this disease.

Subject Areas

Turner’s syndrome; chromosomal aneuploidy; amniotic fluid; cell-free RNA; ingenuity pathway analysis

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