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Related Concept Videos

Fixing Double-strand Breaks02:04

Fixing Double-strand Breaks

The double-stranded structure of DNA has two major advantages. First, it serves as a safe repository of genetic information where one strand serves as the back-up in case the other strand is damaged. Second, the double-helical structure can be wrapped around proteins called histones to form nucleosomes, which can then be tightly wound to form chromosomes. This way, DNA chains up to 2 inches long can be contained within microscopic structures in a cell. A double-stranded break not only damages...
Gene Conversion02:08

Gene Conversion

Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
Genome Copying Errors02:46

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
Gene Conversion02:08

Gene Conversion

Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
Somatic to iPS Cell Reprogramming01:29

Somatic to iPS Cell Reprogramming

Reprogramming alters the gene expression in somatic cells, transforming them into induced pluripotent stem (iPS) cells over several generations. Scientists can reprogram cells by introducing genes for four transcription factors—Oct4, Sox2, Klf4, and c-Myc (OSKM) by viral or non-viral methods. These factors are also known as Yamanaka factors after Shinya Yamanaka, who first generated iPS cells using mouse skin cells. Yamanaka was awarded the Nobel Prize in Physiology or Medicine in 2012 for this...
Methods of Nuclear Reprogramming01:24

Methods of Nuclear Reprogramming

Nuclear reprogramming is a process of transforming one cell type into an unrelated cell type by epigenetic changes that alter the cell’s original gene expression pattern. Such epigenetic changes force cells to express a different set of genes, which play a significant role in inducing transformation into other cell types. Nuclear reprogramming offers applications in reproductive cloning for livestock propagation and regenerative medicine — developing patient-specific cells for injury repair.

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Related Experiment Video

Updated: May 7, 2026

A Standard Methodology to Examine On-site Mutagenicity As a Function of Point Mutation Repair Catalyzed by CRISPR/Cas9 and SsODN in Human Cells
10:07

A Standard Methodology to Examine On-site Mutagenicity As a Function of Point Mutation Repair Catalyzed by CRISPR/Cas9 and SsODN in Human Cells

Published on: August 25, 2017

Gene amplification and gene correction in somatic cells

J M Roberts, R Axel

    Cell
    |May 1, 1982
    PubMed
    Summary

    Gene transfer revealed genetic rearrangements in mammalian cells. Amplification of linked genes led to specific mutant phenotypes, suggesting an efficient DNA correction mechanism.

    Area of Science:

    • Molecular Biology
    • Genetics
    • Cell Biology

    Background:

    • Mammalian cells utilize specific genes for essential functions.
    • Genetic mutations can alter cellular phenotypes.
    • Gene transfer techniques allow for the study of gene function and regulation.

    Purpose of the Study:

    • To identify genetic rearrangements that activate mutant genes in mammalian cells.
    • To investigate the mechanisms underlying gene amplification and inactivation.
    • To explore the role of DNA correction mechanisms in maintaining genetic homogeneity.

    Main Methods:

    • Gene transfer using plasmids containing wild-type aprt and truncated tk genes.
    • Transformation of aprt- tk- cells.
    • Analysis of transformants exhibiting aprt+ and tk+ phenotypes.

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    Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
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    Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells

    Published on: March 10, 2023

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  • Investigation of DNA amplification and aberrant transcript formation.

    • Main Results:

    • Single plasmid integration resulted in aprt+ tk- phenotype.
    • Tk+ variants arose from 20-50 fold amplification of linked plasmid DNA.
    • Amplified aprt+ tk+ clones frequently yielded aprt- tk+ mutants.
    • Amplified DNA structure indicated identical mutations in aprt- cells.

    Conclusions:

    • Gene amplification is a mechanism for generating specific cellular phenotypes.
    • Mammalian cells possess an efficient correction mechanism for maintaining sequence homogeneity in amplified DNA.
    • These findings provide insights into genetic rearrangements and their functional consequences.