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Related Concept Videos

Restarting Stalled Replication Forks02:37

Restarting Stalled Replication Forks

DNA replication is initiated at sites containing predefined DNA sequences known as origins of replication. DNA is unwound at these sites by the minichromosome maintenance (MCM) helicase and other factors such as Cdc45 and the associated GINS complex.The unwound single strands are protected by replication protein A (RPA) until DNA polymerase starts synthesizing DNA at the 5’ end of the strand in the same direction as the replication fork. To prevent the replication fork from falling apart, a...
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...
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...
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 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.
Duplication of Chromatin Structure02:05

Duplication of Chromatin Structure

The process of chromosome duplication during cell division requires genome-wide disruption and re-assembly of chromatin. The chromatin structure must be accurately inherited, reassembled, and maintained in the daughter cells to ensure lineage propagation.
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Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization
17:14

Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization

Published on: December 10, 2012

Replication-Based Mechanism Underlies a Complex dup(18p)/del(18q) Rearrangement Not Derived From Parental Inversion.

Bruna Burssed1, Malú Zamariolli1, Bianca Pereira Favilla1

  • 1Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.

Molecular Syndromology
|June 1, 2026
PubMed
Summary
This summary is machine-generated.

This study details a rare chromosomal rearrangement in chromosome 18, involving a terminal duplication and deletion. The findings offer new insights into the formation mechanisms of such complex genetic alterations.

Keywords:
Breakpoint sequencingIntrachromosomal rearrangementsMicrohomologydup(18p)/del(18q)

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Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization
17:14

Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization

Published on: December 10, 2012

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Area of Science:

  • Genetics
  • Molecular Biology
  • Human Genetics

Background:

  • Intrachromosomal rearrangements with terminal monosomy and trisomy in different chromosomal arms are typically linked to parental pericentric inversions.
  • Forty-seven cases of chromosome 18 alterations have been documented.

Purpose of the Study:

  • To investigate a patient with a dup(18p)/del(18q) rearrangement.
  • To elucidate the molecular mechanisms underlying this complex chromosomal alteration.
  • To establish a precise karyotype-phenotype correlation.

Main Methods:

  • Karyotyping
  • Chromosomal microarrays (SNP and custom)
  • Fluorescence in situ hybridization (FISH)
  • Whole genome sequencing (WGS)
  • Sanger sequencing

Main Results:

  • A 9.7 Mb terminal duplication of 18p and a 25.8 Mb terminal deletion of 18q were identified.
  • The duplicated 18p segment was found inverted within 18q.
  • A 19-nucleotide insertion at the breakpoint and microhomology were detected, suggesting replication-based mechanisms like Fork Stalling and Template Switching (FS/TS) or Microhomology-Mediated Break-Induced Replication (MMBIR).

Conclusions:

  • This is the fifth reported case of concomitant terminal trisomy and monosomy for chromosome 18 not caused by parental pericentric inversion, and the first with nucleotide-level breakpoint resolution.
  • The study infers replication-based mechanisms for the rearrangement's formation.
  • The 18q deletion is strongly implicated as the primary driver of the observed patient phenotype.