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Related Concept Videos

Gene Conversion02:08

Gene Conversion

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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...
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Crossing Over01:30

Crossing Over

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Crossing over is the exchange of genetic information between homologous chromosomes during prophase I of meiosis I. Genetic recombination gives rise to allelic diversity in the newly formed daughter cells. In humans, crossing over produces genetically distinct haploid egg and sperm cells that undergo fertilization to produce unique offspring. Before cell division starts, the germ cell’s chromosome(s) undergo duplication in the S phase of the cell cycle. As the cells enter prophase I,...
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Homologous Recombination02:31

Homologous Recombination

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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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Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

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Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
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Rapid Analysis of Chromosome Aberrations in Mouse B Lymphocytes by PNA-FISH
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Genotype-Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal

Frenny Sheth1, Jhanvi Shah1, Mamta Muranjan2

  • 1FRIGE Institute of Human Genetics, Ahmedabad, India.

American Journal of Medical Genetics. Part A
|February 27, 2026
PubMed
Summary
This summary is machine-generated.

This study identified the largest balanced complex chromosomal rearrangement (CCR) to date in a child with developmental disorders. Advanced genomic sequencing revealed gene disruptions, including NLGN4X, potentially explaining the intellectual disability.

Area of Science:

  • Genetics
  • Genomics
  • Molecular Biology

Background:

  • Balanced complex chromosomal rearrangements (CCR) are challenging to characterize but crucial for understanding genotype-phenotype correlations.
Keywords:
NLGN4XBreakpoint characterizationChromoanagenesisChromoplexyComplex chromosomal rearrangementFluorescence in situ hybridization (FISH)Long read sequencingPacBioWhole genome sequencing

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  • Understanding the molecular basis of CCRs is essential for diagnosing genetic disorders.