Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

11.6K
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%...
11.6K
Mismatch Repair01:20

Mismatch Repair

5.4K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
5.4K
Genome Copying Errors02:46

Genome Copying Errors

4.3K
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.
4.3K
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

9.1K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
9.1K
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

6.1K
6.1K
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

12.6K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
12.6K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Environmental risk score as a predictor for 25-year symptom and functional trajectories in first episode psychosis.

medRxiv : the preprint server for health sciences·2026
Same author

Genetic Pathways Point to the Biology Underlying the Association Between Cannabis Use Disorder and Psychosis.

Biological psychiatry global open science·2026
Same author

Pervasive chromosomal instability drives the karyotypic evolution of hypodiploid tumours.

Genome medicine·2026
Same author

Two-Antenna Gain Measurement Method Using Two UAVs.

Sensors (Basel, Switzerland)·2026
Same author

Gene-Environment Correlation Across Trauma Subtypes and Developmental Timing: Evidence From the EU-GEI and ALSPAC.

Biological psychiatry·2026
Same author

Concordance of positive, negative and disorganised psychotic syndromes in five twin samples.

BJPsych open·2026

Related Experiment Video

Updated: May 4, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

12.6K

Ohnologs are overrepresented in pathogenic copy number mutations.

Aoife McLysaght1, Takashi Makino, Hannah M Grayton

  • 1Smurfit Institute of Genetics, Trinity College, University of Dublin, Dublin 2, Ireland.

Proceedings of the National Academy of Sciences of the United States of America
|December 26, 2013
PubMed
Summary

Rare copy number variants (CNVs) linked to developmental disorders often contain ohnologs, which are genes retained from whole-genome duplication events. These dosage-sensitive ohnologs are significantly overrepresented in pathogenic CNVs, suggesting they are key drivers of disease.

Keywords:
evolutionmicrodeletionmicroduplicationneurodevelopmental

More Related Videos

Flow-sorting and Exome Sequencing of the Reed-Sternberg Cells of Classical Hodgkin Lymphoma
08:53

Flow-sorting and Exome Sequencing of the Reed-Sternberg Cells of Classical Hodgkin Lymphoma

Published on: June 10, 2017

9.3K
Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

6.2K

Related Experiment Videos

Last Updated: May 4, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

12.6K
Flow-sorting and Exome Sequencing of the Reed-Sternberg Cells of Classical Hodgkin Lymphoma
08:53

Flow-sorting and Exome Sequencing of the Reed-Sternberg Cells of Classical Hodgkin Lymphoma

Published on: June 10, 2017

9.3K
Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

6.2K

Area of Science:

  • Genetics
  • Genomics
  • Developmental Biology

Background:

  • Rare copy number variants (CNVs), including deletions and duplications, are associated with developmental disorders like schizophrenia, autism, intellectual disability, and epilepsy.
  • The pathogenicity of CNVs is often attributed to the dosage sensitivity of genes within the variant locus.
  • Identifying specific disease-causing genes within CNVs is crucial for understanding pathophysiology.

Purpose of the Study:

  • To test the hypothesis that ohnologs are overrepresented in pathogenic CNVs.
  • To investigate the role of ohnologs as critical dosage-sensitive elements in the genome.
  • To identify candidate genes for further study in relation to pathogenic CNVs.

Main Methods:

  • Selected three sets of genes implicated in copy number pathogenicity: genes in rare disease-associated CNVs, de novo CNVs under negative selection, and clinically identified pathogenic CNVs.
  • Compared the proportion of ohnologs in these pathogenic gene sets against control genes mapping to non-disease-associated CNVs.
  • Utilized array comparative genome hybridization (aCGH) data in gene identification.

Main Results:

  • Ohnologs were significantly overrepresented in genes within pathogenic CNVs across all tested sets.
  • Over 90% of pathogenic CNVs contained at least one ohnolog, compared to approximately 30% of control CNVs (>100 kb).
  • Specific examples like del15p11.2 (CYFIP1), dup/del16p13.11 (NDE1), VIPR2, and NRXN1 highlight ohnologs as plausible candidate genes.

Conclusions:

  • The findings support the hypothesis that ohnologs are frequently involved in pathogenic CNVs due to their dosage sensitivity.
  • Ohnologs represent critical dosage-sensitive genomic elements potentially responsible for deleterious phenotypes associated with CNVs.
  • Ohnologs are readily identifiable candidate genes for further investigation into the mechanisms underlying CNV-related disorders.