Insights into the role of cis-regulatory elements of 5-HT2A gene in gene expression and regulation: an in silico approach

In multicellular organisms, coherent functioning of the central nervous system (CNS) and cellular diversity are driven by changes in high-fidelity gene expression. Crucial to these processes are cis-gene regulatory elements (CRE elements), which control transcription in response to chemical and physical stimuli. Variations in these components are a major contributor to several diseases in humans that result in particular phenotypic endpoints. The brain’s neuropsychological processes are dependent on G-protein-coupled receptor (GPCR) activation, and various neuropsychiatric disorders are linked to GPCR dysfunction. The 5-HT2A receptor plays a key role in many brain activities due to its neurobiological and signaling characteristics. The distinct topography of the 5HT2A gene locus is outlined in this work, including the functions of CRE and regulatory elements. Further, the role of CRE elements in imprinting and methylation signatures’ was investigated. Our findings indicate that the non-coding antisense RNA transcript (HTR2A-AS1) present in the locus may control the expression levels of the HTR2A transcript. This region’s combinatorial DNA sequences include promoters, enhancers, silencers, and CTCF all of which may play a crucial role in the regulation of gene expression. Moreover, imprinting and epigenetic inheritance may be made possible by the distinct tapestry of chromatin architecture components, including H3K27ac, DNase I hypersensitivity, and CTCF binding regions found in the region. It is also possible that the non-canonical DNA structures and repetitive elements in the promoter region contribute to these functions and genomic stability. Together, the flanking regulatory elements and the gene-specific CRE contribute to the expression of the gene. They might function as plausible indicators for human illnesses.