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Related Concept Videos

Alternative RNA Splicing02:18

Alternative RNA Splicing

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...
Alternative RNA Splicing02:18

Alternative RNA Splicing

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...
RNA Splicing01:32

RNA Splicing

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...
RNA Splicing01:32

RNA Splicing

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...
Pre-mRNA Processing02:01

Pre-mRNA Processing

In eukaryotic cells, transcripts made by RNA polymerase are modified and processed before exiting the nucleus. Unprocessed RNA is called precursor mRNA or pre-mRNA to distinguish it from mature mRNA.
Once about 20-40 ribonucleotides have been joined together by RNA polymerase, a group of enzymes adds a “cap” to the 5’ end of the growing transcript. In this process, a 5’ phosphate is replaced by modified guanosine that has a methyl group attached to it (7-Methyl guanosine). This 5’ cap helps the...
Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

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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Updated: Jun 6, 2026

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
10:06

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells

Published on: April 26, 2017

Alternative pre-mRNA splicing in digestive tract malignancy.

Koh Miura1, Wataru Fujibuchi, Iwao Sasaki

  • 1Department of Surgery, Tohoku University Graduate School of Medicine, Sendai Computational Biology Research Center, National Institute of Advanced Industrial Science and Technology, Tokyo, Japan. k-miura@surg1.med.tohoku.ac.jp

Cancer Science
|December 8, 2010
PubMed
Summary
This summary is machine-generated.

Alternative pre-mRNA splicing generates genome diversity but its dysregulation causes diseases like cancer. Understanding aberrant splicing is key for diagnosing hereditary conditions and cancer molecular characteristics.

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Published on: April 26, 2017

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11:48

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10:25

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Published on: April 22, 2021

Area of Science:

  • Molecular Biology
  • Genetics
  • Cancer Research

Background:

  • Alternative pre-mRNA splicing is crucial for genomic functional diversity.
  • Dysregulation of splicing, involving cis- and trans-elements, leads to aberrant transcripts and disease, notably human neoplasms.
  • Germline and somatic mutations in cis-elements of tumor suppressor genes contribute to hereditary cancers and tumorigenesis.

Purpose of the Study:

  • To review the regulatory mechanisms of alternative pre-mRNA splicing.
  • To focus on the role of aberrant splicing in digestive tract malignancies.
  • To highlight the clinical importance of interpreting genetic alterations and aberrant transcripts for diagnosis and molecular characterization.

Main Methods:

  • Review of current knowledge on splicing regulation.
  • Analysis of genetic alterations (mutations) in cis-elements.
  • Discussion of transcript outcomes like exon skipping and intron retention.
  • Consideration of nonsense-mediated mRNA decay (NMD) pathway.

Main Results:

  • Aberrant splicing contributes significantly to human neoplasms.
  • Mutations in cis-elements of MMR, APC, and CDH1 genes are linked to hereditary cancers.
  • In silico prediction of aberrant transcripts remains challenging.
  • Erroneous transcripts are often degraded by NMD.

Conclusions:

  • Accurate interpretation of genetic alterations and aberrant transcripts is vital for clinical genetic diagnosis.
  • Understanding aberrant splicing mechanisms is crucial for elucidating the molecular features of neoplasms.
  • This review focuses on splicing in digestive tract malignancies.