Related Experiment Video

Updated: Aug 8, 2026

Linear Amplification Mediated PCR – Localization of Genetic Elements and Characterization of Unknown Flanking DNA
11:58

Linear Amplification Mediated PCR – Localization of Genetic Elements and Characterization of Unknown Flanking DNA

Published on: June 25, 2014

Manifestation, mechanisms and mysteries of gene amplifications

Samuel Myllykangas1, Sakari Knuutila

  • 1Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.

Cancer Letters
|November 18, 2005
PubMed

Insights

Gene amplifications in cancer require DNA double-stranded breaks. Current databases lack resolution, hindering systems biology approaches. New databases using array comparative genomic hybridization (aCGH) and sequenced fragile sites are needed for better understanding.

Area of Science:

  • Genomics
  • Cancer Biology
  • Systems Biology

Background:

  • Gene amplifications are key features in advanced cancers, impacting prognosis and treatment.
  • Current models suggest DNA double-stranded breaks are necessary for gene amplification.
  • Existing genomic databases lack the resolution needed for detailed systems biology analysis of amplification mechanisms.

Purpose of the Study:

  • To highlight the limitations of current genomic databases in studying gene amplification mechanisms.
  • To emphasize the need for high-resolution data to understand the dynamics of gene amplification.
  • To advocate for the development of new databases integrating advanced genomic technologies.

Main Methods:

  • Review of existing models for gene amplification (e.g., breakage-fusion-bridge cycle).
  • Assessment of current database limitations in resolution for DNA copy number aberrations and fragile sites.
  • Introduction of array comparative genomic hybridization (aCGH) for high-resolution copy number measurement.
  • Mention of cloning and sequencing for high-resolution fragile site mapping.

Main Results:

  • Conventional cytogenetics provides insufficient resolution for understanding gene amplification dynamics.
  • Array comparative genomic hybridization (aCGH) offers genome-wide, molecular genetic resolution for amplification detection.
  • Sequencing of fragile sites significantly improves mapping resolution.

Conclusions:

  • High-resolution databases integrating aCGH and sequenced fragile sites are essential.
  • These advanced databases are crucial for systems biology approaches to decipher gene amplification mechanisms.
  • Improved data resolution will facilitate a deeper understanding of cancer progression and therapeutic targets.

More Related Videos

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing09:49

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing

Published on: July 5, 2019

Robust Detection of Gene Amplification in Formalin-Fixed Paraffin-Embedded Samples by Fluorescence In Situ Hybridization03:55

Robust Detection of Gene Amplification in Formalin-Fixed Paraffin-Embedded Samples by Fluorescence In Situ Hybridization

Published on: July 12, 2024

Related Concept Videos

Epigenetic Regulation01:46

Epigenetic Regulation

Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
Gene Duplication and Divergence02:37

Gene Duplication and Divergence

The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
mTOR Signaling and Cancer Progression03:03

mTOR Signaling and Cancer Progression

The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
Epigenetic Regulation01:37

Epigenetic Regulation

Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
Amplifying Signals via Enzymatic Cascade01:22

Amplifying Signals via Enzymatic Cascade

When a ligand binds to a cell-surface receptor, the receptor's intracellular domain changes shape, which may either activate its enzyme function or allow its binding to other molecules. The initial signal is amplified by most signal transduction pathways. This means that a single ligand molecule can activate multiple molecules of a downstream target. Proteins that relay a signal are most commonly phosphorylated at one or more sites, activating or inactivating the protein. Kinases catalyze the...