Signature Genes in Macrodactyly through Transcriptome Network Analysis Reveal their Association of Lipid Metabolism

Abstract

: Macrodactyly is one of the most difficult hand anomalies to treat not only surgically but medically as well. Little is known about the molecular pathways and lipid metabolism of this disease. To elucidate the potential mechanism of macrodactyly progress, we used the bioinformatical analysis including quantile normalization, principal component analysis, heatmap and volcano plot. For the functional bioinformatical study, lipid, lipoprotein and phospholipid metabolism of Kyoto Encyclopedia of Genes and Genomes, Wiki Pathways, and Reactome Pathway were utilized to compare the differentially expressed genes in macrodactyly with control group. We found up-regulation of CDK6 and E2F1, which are associated with the mitotic cell cycle of cancer cells. PIK3CG, associated with cancer and lipid metabolism, was also enriched in macrodactyly. In down-regulated genes, PTEN was highlighted in lipid metabolism, phosphatidylinositol signaling system and insulin signaling. ABCD3, related in peroxisomal import of fatty acids, was also down-regulated. In this study, we predicted the pathogenic candidate genes as well as the potential molecular pathways related to macrodactyly by identifying the signature genes. Signature genes through systems bioinformatical analysis can be utilized to catch the insight of the molecular pathogenesis of macrodactyly.

RNA-Seq Reveals Function of Bta-miR-149-5p in the Regulation of Bovine Adipocyte Differentiation

“…Previously, it has been reported that PI3K-Akt signaling pathway plays an important role in adipose tissue function and energy metabolism through regulation of the genes expressed in lipid metabolism [ 74 , 75 , 76 ]. Previous literature has shown the association of FoxO signaling, PI3K-Akt signaling, and cAMP signaling pathways with lipid metabolism [ 77 , 78 , 79 ]. The cAMP and calcium signaling pathways act as the second messengers in eukaryotic cells [ 80 ] and regulate the intracellular lipolysis in adipocytes through calcium ions and cAMP levels [ 81 ].…”