The term "split genes" refers to the phenomenon where genes are not continuous, but instead are divided into sections or exons that are separated by intervening sequences or introns. The spelling of this term can be explained using the International Phonetic Alphabet (IPA) as [splɪt dʒiːnz], where the "s" is pronounced as /s/, the "p" as /p/, the "l" as /l/, the "i" as /ɪ/, the "t" as /t/, the "d" as /d/, the "ʒ" as /dʒ/, the "i" as /iː/, the "n" as /n/, and the "z" as /z/.
Split genes, also known as interrupted genes or split exons, refer to a unique genetic structure in eukaryotic organisms, including humans, where the coding sequence of a gene is interrupted by non-coding sequences known as introns. This deviation from a continuous and uninterrupted coding sequence is essential to the expression and functionality of genes.
In split gene structures, the DNA sequence contains both coding regions, called exons, which contain the information required to produce proteins, and non-coding regions, called introns, which do not participate in protein synthesis. This organization allows for the generation of multiple protein isoforms from a single gene through a process called alternative splicing. During gene expression, pre-mRNA, the initial transcript of a gene, undergoes splicing, which involves the removal of introns and the joining of consecutive exons to create mature mRNA that can be translated into proteins.
Split genes are of great biological importance as they enable the production of a wide variety of proteins from a limited number of genes, thereby increasing the diversity of proteins that an organism can produce. Furthermore, split genes have been associated with important biological processes and diseases, such as developmental regulation, tissue-specific expression, and genetic disorders. Understanding the structure and function of split genes has significant implications for the field of molecular genetics, providing insights into the complexity of gene regulation and offering avenues for potential therapeutic interventions targeting specific genetic diseases.
The term "split genes" refers to the discovery that genes in eukaryotic organisms are typically composed of exons (coding regions) and introns (non-coding regions). The etymology of this term can be broken down as follows:
1. Split: The term "split" refers to the observation that genes in eukaryotes are not continuous and uninterrupted, but rather contain non-coding regions (introns) that are "split" by coding regions (exons). This concept was first proposed by Richard J. Roberts in the 1970s.
2. Genes: The term "genes" refers to the segments of DNA that provide instructions for the synthesis of proteins or functional RNA molecules.
Therefore, "split genes" was coined to describe the peculiar structure of genes in eukaryotic organisms, where coding regions (exons) are interrupted by non-coding regions (introns).