Abstract
Proteins are the major effectors of cell functions. Protein-coding genes evolve from ancestral genes by gene duplication, recombination, retrotransposition or exon shuffling, and fixation of new DNA variants. Although the exon coding sequence of total protein-coding genes corresponds to a small fraction of the genome from multicellular invertebrate and vertebrate Metazoan organisms, gene intron mean length partially correlates to genome size increase along the animal phylogenetic scale. Additionally, species with increasing phenotypic complexity in the evolutionary scale present more diverse regulatory mechanisms of gene expression. The study of gene and epigenetic elements regulating transcription and pre-mRNA processing in specific cell types and developmental stages is key to understand how a ‘limited’ number of protein-coding genes may generate enormous phenotypic diversity. Remarkably, genetic and epigenetic alterations affecting such conserved elements and, consequently, impairing the gene products and associated cell mechanisms may lead to cell and organ dysfunction, and disease. In this chapter we review the concepts of and relationship among those cis elements within or associated with protein-coding genes, and provide a few examples of how loss-of-function and gain-of-function DNA variants may affect the gene products.
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Haddad, L.A. (2021). Protein-Coding Genes. In: Haddad, L.A. (eds) Human Genome Structure, Function and Clinical Considerations. Springer, Cham. https://doi.org/10.1007/978-3-030-73151-9_4
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DOI: https://doi.org/10.1007/978-3-030-73151-9_4
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