Related Experiment Video
Updated: Aug 9, 2026
10:06
Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
Published on: April 26, 2017
Cyclin D1: polymorphism, aberrant splicing and cancer risk
K E Knudsen1, J Alan Diehl, C A Haiman
1Department of Cell Biology, University of Cincinnati, Cincinnati, OH 45267, USA. erik.knudsen@uc.edu
Oncogene
|March 22, 2006
Summary
Altered cyclin D1, including a common genetic variation (G/A870 polymorphism) and a splice variant (cyclin D1b), is linked to increased cancer risk and progression. These changes in cell cycle regulation are frequently observed in human tumors.
Area of Science:
- Molecular biology
- Oncology
- Genetics
Background:
- The cyclin D1 proto-oncogene is a critical regulator of the cell cycle.
- Dysregulation of cyclin D1 is frequently observed in human cancers.
- Somatic mutations in cyclin D1 are rare, suggesting alternative mechanisms for its involvement in cancer.
Purpose of the Study:
- To review epidemiological and functional studies on cyclin D1 alterations in human cancer.
- To explore the role of a specific cyclin D1 polymorphism (G/A870) in cancer risk and outcome.
- To examine the contribution of the cyclin D1b splice variant to tumor development and progression.
Main Methods:
- Literature review of epidemiological data.
- Analysis of functional studies investigating cyclin D1 alterations.
- Synthesis of evidence linking genetic variations and alternative splicing to cancer.
Main Results:
- Evidence suggests a specific cyclin D1 polymorphism (G/A870) may influence cancer risk.
- The cyclin D1b splice variant is implicated in cancer development and progression.
- These cyclin D1 alterations, rather than somatic mutations, are key factors in tumorigenesis.
Conclusions:
- Genetic variations and alternative splicing of cyclin D1 play significant roles in human cancer.
- Understanding these alterations is crucial for assessing cancer risk and predicting patient outcomes.
- Further research into cyclin D1's role in cell cycle regulation and cancer is warranted.
Related Concept Videos
02:39Positive Regulator Molecules
Mitotic cell division results in daughter cells that exactly resemble the parent cell. However, errors in the DNA replication or distribution of genetic material may lead to genetic mutations that may be passed down to every new cell formed from the resulting abnormal cell. Propagation of such mutant cells is restricted through checkpoint mechanisms present at different stages of the cell cycle. These checkpoints involve regulator molecules that either promote or demote cell cycle events.
01:45Positive Regulator Molecules
To consistently produce healthy cells, the cell cycle—the process that generates daughter cells—must be precisely regulated.
02:34Inhibition of Cdk Activity
The orderly progression of the cell cycle depends on the activation of Cdk protein by binding to its cyclin partner. However, the cell cycle must be restricted when undergoing abnormal changes. Most cancers correlate to the deregulated cell cycle, and since Cdks are a central component of the cell cycle, Cdk inhibitors are extensively studied to develop anticancer agents. For instance, cyclin D associates with several Cdks, such as Cdk 4/6, to form an active complex. The cyclin D-Cdk4/6 complex...
01:32RNA 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...
02:23Abnormal Proliferation
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
02:15M-Cdk Drives Transition Into Mitosis
Checkpoints throughout the cell cycle serve as safeguards and gatekeepers, allowing the cell cycle to progress in favorable conditions and slow or halt it in problematic ones. This regulation is known as the cell cycle control system.
Cyclin-dependent kinases, or Cdks, work in concert with cyclins to control cell cycle transitions. M-Cdk, a complex of Cdk1 bound to M cyclin, is a well-known example of this coordinated control that drives the transition from the G2 to the M phase.
M cyclin...
Cyclin-dependent kinases, or Cdks, work in concert with cyclins to control cell cycle transitions. M-Cdk, a complex of Cdk1 bound to M cyclin, is a well-known example of this coordinated control that drives the transition from the G2 to the M phase.
M cyclin...