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Related Concept Videos

RNA Splicing01:32

RNA Splicing

60.3K
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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Alternative RNA Splicing02:18

Alternative RNA Splicing

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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.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
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Alternative RNA Splicing02:18

Alternative RNA Splicing

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Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

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As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
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Exon Recombination02:32

Exon Recombination

4.1K
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. 
Exon shuffling follows “splice frame rules.” Each exon...
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Pleiotropy01:33

Pleiotropy

43.2K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Related Experiment Video

Updated: Jan 13, 2026

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
11:48

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

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Rare Intronic Variants Altering Splicing Cause Lynch Syndrome: Two Case Reports.

Yumi Takimoto1, Hiroshi Tsubamoto1, Tomokazu Wakatsuki2

  • 1Department of Obstetrics and Gynecology, Hyogo Medical University, School of Medicine, Nishinomiya, Hyogo, Japan.

The Journal of Obstetrics and Gynaecology Research
|October 29, 2025
PubMed
Summary

Rare genetic variants in mismatch repair (MMR) genes cause Lynch syndrome (LS), a hereditary cancer. RNA sequencing identified splicing defects missed by standard genetic testing, aiding LS diagnosis and management.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Lynch syndrome (LS) is an autosomal-dominant hereditary cancer syndrome linked to mismatch repair (MMR) gene defects.
Keywords:
genetic testingintronic variantlynch syndromemismatch repair genes

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  • Accurate diagnosis of LS is crucial for patient management and cascade screening.
  • Conventional genetic testing may miss pathogenic variants affecting splicing.