Abstract
Elucidating expression patterns of heart-specific genes is crucial for understanding developmental, physiological, and pathological processes of the heart. The aim of the present study is to identify functionally and pathologically important heart-specific genes by performing the Ingenuity Pathway Analysis (IPA). Through a median-based analysis of tissue-specific gene expression based on the Genotype-Tissue Expression (GTEx) data, we identified 56 genes with heart-specific or elevated expressions in the heart (heart-specific/enhanced), among which three common heart-specific/enhanced genes and four atrial appendage-specific/enhanced genes were unreported regarding the heart. Differential expression analysis further revealed 225 differentially expressed genes (DEGs) between atrial appendage and left ventricle. Our integrative analyses of those heart-specific/enhanced genes and DEGs with IPA revealed enriched heart-related traits and diseases, consolidating evidence of relationships between these genes and heart function. Our reports on comprehensive identification of heart-specific/enhanced genes and DEGs and their relation to pathways associated with heart-related traits and diseases provided molecular insights into essential regulators of cardiac physiology and pathophysiology and potential new therapeutic targets for heart diseases.
Highlights
During heart development, conserved transcriptional networks govern cardiac cell fate determination, cardiomyocyte differentiation, and cardiac morphogenesis (Olson, 2006)
Through a median-based analysis of tissue-specific gene expression based on the Genotype-Tissue Expression (GTEx) data, we identified 56 genes with heart-specific or elevated expressions in the heart, among which three common heart-specific/enhanced genes and four atrial appendage-specific/enhanced genes were unreported regarding the heart
The median TPM value in the heart was divided by an average of the rest of the median TPMs from other tissues, producing ‘relative median values (RMVs)’, and distribution of these values were plotted against the number of genes (Figure 2A)
Summary
During heart development, conserved transcriptional networks govern cardiac cell fate determination, cardiomyocyte differentiation, and cardiac morphogenesis (Olson, 2006). Characteristic transcriptional profiles between atria and ventricles of the heart have been linked to heart region-specific differences in morphogenesis, structure, contractility, and electrophysiological properties (Bao et al, 1999; Barth et al, 2005; Olson, 2006). Based on these significances of abundant or differential expression of genes in the heart, comprehensive screenings of heart-specific genes and differentially expressed genes (DEGs) between heart chambers gain significant attention. This approach was further used to comprehensively identify heart-specific genes and DEGs in this study
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