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Related Concept Videos

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...
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...
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...
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...
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...
Homologous Recombination02:31

Homologous Recombination

The basic reaction of homologous recombination (HR) involves two chromatids that contain DNA sequences sharing a significant stretch of identity. One of these sequences uses a strand from another as a template to synthesize DNA in an enzyme-catalyzed reaction. The final product is a novel amalgamation of the two substrates. To ensure an accurate recombination of sequences, HR is restricted to the S and G2 phases of the cell cycle. At these stages, the DNA has been replicated already and the...

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Related Experiment Video

Updated: Jun 27, 2026

Quantitation and Analysis of the Formation of HO-Endonuclease Stimulated Chromosomal Translocations by Single-Strand Annealing in Saccharomyces cerevisiae
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Quantitation and Analysis of the Formation of HO-Endonuclease Stimulated Chromosomal Translocations by Single-Strand Annealing in Saccharomyces cerevisiae

Published on: September 23, 2011

Mechanisms for human genomic rearrangements.

Wenli Gu1, Feng Zhang, James R Lupski

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. jlupski@bcm.tmc.edu.

Pathogenetics
|November 19, 2008
PubMed
Summary

Genomic rearrangements are large DNA changes causing human diseases. Three main mechanisms, including non-allelic homologous recombination (NAHR), non-homologous end-joining (NHEJ), and Fork Stalling and Template Switching (FoSTeS), explain these events in the genome.

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Subcloning Plus Insertion (SPI) - A Novel Recombineering Method for the Rapid Construction of Gene Targeting Vectors
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Rapid Analysis of Chromosome Aberrations in Mouse B Lymphocytes by PNA-FISH
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Rapid Analysis of Chromosome Aberrations in Mouse B Lymphocytes by PNA-FISH

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Related Experiment Videos

Last Updated: Jun 27, 2026

Quantitation and Analysis of the Formation of HO-Endonuclease Stimulated Chromosomal Translocations by Single-Strand Annealing in Saccharomyces cerevisiae
09:40

Quantitation and Analysis of the Formation of HO-Endonuclease Stimulated Chromosomal Translocations by Single-Strand Annealing in Saccharomyces cerevisiae

Published on: September 23, 2011

Subcloning Plus Insertion (SPI) - A Novel Recombineering Method for the Rapid Construction of Gene Targeting Vectors
09:02

Subcloning Plus Insertion (SPI) - A Novel Recombineering Method for the Rapid Construction of Gene Targeting Vectors

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Rapid Analysis of Chromosome Aberrations in Mouse B Lymphocytes by PNA-FISH
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Rapid Analysis of Chromosome Aberrations in Mouse B Lymphocytes by PNA-FISH

Published on: August 19, 2014

Area of Science:

  • Genetics
  • Genomics
  • Molecular Biology

Background:

  • Genomic rearrangements are substantial alterations in DNA structure, ranging from hundreds of base pairs to megabases.
  • These changes, particularly those exceeding 3-5 Mb, are often detectable via chromosomal analysis and are termed genomic disorders when linked to human diseases.

Purpose of the Study:

  • To review the current understanding of the primary mechanisms driving genomic rearrangements.
  • To elucidate the roles of Non-Allelic Homologous Recombination (NAHR), Non-Homologous End-Joining (NHEJ), and Fork Stalling and Template Switching (FoSTeS) in genome stability and disease.

Main Methods:

  • Review of existing literature on genomic rearrangement mechanisms.
  • Analysis of proposed models including NAHR, NHEJ, and FoSTeS.
  • Examination of the role of repetitive sequences like LCRs, Alu, and LINE in mediating rearrangements.

Main Results:

  • Non-allelic homologous recombination (NAHR), often mediated by low-copy repeats (LCRs), is responsible for most recurrent rearrangements.
  • Non-recurrent rearrangements can be influenced by LCRs and are explained by NHEJ and FoSTeS models.
  • These mechanisms operate in both germ and somatic cells, contributing to genomic disorders and cancers, respectively.

Conclusions:

  • NAHR, NHEJ, and FoSTeS are the predominant mechanisms underlying genomic rearrangements.
  • The frequency of these mechanisms at specific loci is influenced by local genomic architecture.
  • Understanding these mechanisms is crucial for comprehending genomic disorders and cancers.