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Exon

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An exon is a vital component of a gene that remains in the final, functional RNA molecule. While genes contain many different sequences, only the exons are kept after a process called RNA splicing. This term describes both the specific DNA sequence within a gene and the corresponding sequence found in RNA transcripts. The entire collection of all exons within an organism is referred to as the exome. Understanding the exome is essential for modern biology and medicine.

RNA splicing diagram en
RNA splicing diagram en

To understand how exons work, one must look at the process of RNA splicing. A gene begins as a long sequence of DNA that is transcribed into a precursor molecule called pre-mRNA. This precursor contains both exons and non-coding regions called introns. During splicing, the cell removes the introns from the sequence. The remaining exons are then covalently joined to one another. This step-by-step process results in the creation of a mature RNA.

Gene structure
Gene structure

Exons serve different roles depending on the type of RNA being produced. In protein-coding genes, exons include the sequences that code for amino acids. They also include untranslated regions, known as UTRs, at the 5′ and 3′ ends of the mRNA. These UTRs are important parts of the mature molecule but are not translated into proteins. Some exons may contain only a UTR, or they may contain both coding sequences and UTRs. Furthermore, exons are found in non-coding RNA, which are molecules that do not become proteins.

Gene structure
Gene structure

Cells can also use a process called alternative splicing to increase variety. In this process, different introns are removed from the same pre-mRNA. This allows the cell to join different combinations of exons together. As a result, a single gene can produce several different mature RNAs. Another interesting phenomenon is exonization. This occurs when mutations in introns actually create a brand new exon.

RNA splicing diagram en
RNA splicing diagram en

The concept of the exon was defined by the American biochemist Walter Gilbert in 1978. He coined the term as a shortening of the phrase "expressed region." Before this, scientists used the term cistron to describe these units. Gilbert proposed that transcription units should be viewed as alternating regions. He suggested that the parts lost during splicing be called introns. The parts that are expressed should be called exons. This change in terminology helped clarify how genetic information is organized.

Gene structure
Gene structure

Exons vary greatly in size and frequency across different life forms. In the human genome, exons are quite rare compared to other DNA. Only about 1.1% of the human genome is made of exons. In contrast, 24% consists of introns, and 75% is intergenic DNA. This difference is significant for medical technology. Whole exome sequencing is much smaller and less expensive than whole genome sequencing. This makes it a practical tool for precision medicine.

Gene structure
Gene structure

Data from 2002 shows that protein-coding genes in GenBank have an average of 5.48 exons. On average, a single exon encodes between 30 and 36 amino acids. The size of these units can also vary wildly. The longest exon in the human genome is 11,555 base pairs long. However, some exons are extremely small, measuring only 2 base pairs. In the plant Arabidopsis, scientists have even found a single-nucleotide exon.

RNA splicing diagram en
RNA splicing diagram en

Scientists use several experimental methods to study these sequences. One method is called exon trapping, or gene trapping. This technique uses the way introns and exons splice to find new genes. By inserting DNA into a gene, scientists can use a reporter gene to see if it is expressed. Another method involves using Morpholino antisense oligos. These molecules can block small nuclear ribonucleoprotein particles, or snRNPs, from reaching the pre-mRNA. This allows researchers to intentionally exclude specific exons during development.

Gene structure
Gene structure
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File:RNA splicing diagram en.svg
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