Related Experiment Video

Updated: Aug 7, 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

The connection between splicing and cancer

Anabella Srebrow1, Alberto R Kornblihtt

  • 1Departamento de Fisiología, Biología Molecular y Celular, IFIBYNE-CONICET, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad Universitaria, Pabellón 2, (C1428EHA) Buenos Aires, Argentina.

Journal of Cell Science
|June 22, 2006
PubMed

Insights

Alternative splicing generates protein diversity, but errors in this process can lead to diseases like cancer. Precise control of alternative splicing is vital for cellular function and organismal health.

Area of Science:

  • Molecular Biology
  • Genetics
  • Biochemistry

Background:

  • Alternative splicing is a key process for creating diverse proteins from a single gene.
  • Different splice variants can have distinct or opposing biological roles.
  • Precise regulation of alternative splicing is essential for cellular processes in multicellular organisms.

Purpose of the Study:

  • To highlight the critical role of alternative splicing in protein diversity.
  • To explain the pathogenic consequences of dysregulated alternative splicing.
  • To underscore the importance of accurate splicing control in human diseases, particularly cancer.

Main Methods:

  • The study reviews existing literature on alternative splicing mechanisms.
  • It analyzes the impact of mutations in cis-acting splicing elements.
  • It examines the effects of altered activity of splicing regulators.

Main Results:

  • Mutations in splicing elements of genes like LKB1, KIT, CDH17, KLF6, and BRCA1 are linked to disease.
  • Changes in trans-acting splicing regulators affect genes such as Ron, RAC1, and CD44.
  • Dysregulation of alternative splicing can significantly impact human pathogenesis, especially in cancer development and progression.

Conclusions:

  • Alternative splicing is fundamental for generating functional protein diversity.
  • Errors in alternative splicing, due to mutations or regulatory changes, contribute to human diseases.
  • Maintaining accurate alternative splicing is crucial for preventing diseases like cancer.

More Related Videos

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency08:53

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

Published on: September 15, 2021

Related Concept Videos

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...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Induced Pluripotent Stem Cells01:06

Induced Pluripotent Stem Cells

Stem cells are undifferentiated cells that divide and produce different cell types. Ordinarily, cells that have differentiated into a specific cell type are terminally differentiated; however, scientists have found a way to reprogram these mature cells so that they dedifferentiate and return to an unspecialized, proliferative state. These cells are pluripotent like embryonic stem cells—able to produce all cell types—and are called induced pluripotent stem cells (iPSCs).
Somatic cells are...
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...