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Related Concept Videos

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.
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Viral Mutations00:36

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material for adaptive...
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...
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...

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Updated: May 7, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

Replicative mechanisms for CNV formation are error prone.

Claudia M B Carvalho1, Davut Pehlivan, Melissa B Ramocki

  • 11] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. [2] Centro de Pesquisas René Rachou-FIOCRUZ, Belo Horizonte, Brazil.

Nature Genetics
|September 24, 2013
PubMed
Summary

DNA polymerase errors during repair cause mutations at complex genomic rearrangement breakpoints. This study reveals insights into the origins of genetic variations in humans.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Genomics

Background:

  • Complex genomic rearrangements (CGRs) are associated with various genetic disorders.
  • The precise mechanisms generating mutations at CGR breakpoints are not fully understood.

Purpose of the Study:

  • To investigate the mutational landscape at breakpoint junctions of gene copy number gains.
  • To identify the underlying causes of single-nucleotide variants associated with CGRs.

Main Methods:

  • Analysis of 67 breakpoint junctions from gene copy number gains in 31 unrelated subjects.
  • Identification and characterization of small deletions, insertions, frameshifts, and point mutations at or near breakpoint junctions.

Main Results:

  • A high frequency (29%) of small deletions and insertions attributed to polymerase slippage.
  • Identification of frameshifts and point mutations in homonucleotide runs (13%) at breakpoints.
  • Demonstration that these single-nucleotide variants arise concurrently with de novo CGR events.

Conclusions:

  • Low-fidelity DNA polymerase activity during DNA repair synthesis contributes to increased point mutation burden at CGR breakpoints.
  • Error-prone polymerase activity is implicated in the generation of local genetic variations during complex genomic rearrangements.