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Related Concept Videos

RNA Splicing01:32

RNA Splicing

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Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
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Exon Recombination02:32

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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
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Alternative RNA Splicing02:18

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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
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Alternative RNA Splicing02:18

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Mutations01:35

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
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Related Experiment Video

Updated: May 3, 2026

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast
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ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast

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Exon identity crisis: disease-causing mutations that disrupt the splicing code.

Timothy Sterne-Weiler, Jeremy R Sanford

    Genome Biology
    |January 25, 2014
    PubMed
    Summary
    This summary is machine-generated.

    Single nucleotide variants can disrupt RNA splicing, a critical process for gene expression. These genetic changes are implicated in the development of various human diseases.

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    Area of Science:

    • Molecular Biology
    • Genetics
    • RNA Biology

    Background:

    • Gene expression relies on precise regulation of pre-messenger RNA (pre-mRNA) splicing.
    • Cis-acting RNA elements are crucial for controlling the accuracy of splicing in multi-exon genes.

    Purpose of the Study:

    • To investigate the impact of single nucleotide variants on RNA splicing fidelity.
    • To explore the role of altered splicing in the etiology of human diseases.

    Main Methods:

    • Analysis of cis-acting RNA elements.
    • Identification of single nucleotide variants affecting splicing.
    • Correlation of splicing defects with disease pathogenesis.

    Main Results:

    • Demonstrated that single nucleotide variants can disrupt the regulatory code of cis-acting RNA elements.
    • Showed that these alterations lead to aberrant pre-mRNA splicing.
    • Established a link between compromised splicing fidelity and the onset of human diseases.

    Conclusions:

    • Single nucleotide variants impacting RNA splicing are significant contributors to human disease.
    • Understanding these mechanisms is vital for diagnosing and potentially treating genetic disorders.