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

16.7K
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%...
16.7K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

13.5K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
13.5K
Gene Duplication and Divergence02:37

Gene Duplication and Divergence

5.9K
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...
5.9K
Genome Copying Errors02:46

Genome Copying Errors

4.1K
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.
4.1K
Karyotyping01:17

Karyotyping

55.3K
Overview
55.3K
Gene Families01:57

Gene Families

8.7K
Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
8.7K

You might also read

Related Articles

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

Sort by
Same author

Convergent effects of neurodevelopmental disorder-associated variants at mitochondria.

bioRxiv : the preprint server for biology·2026
Same author

Driver or passenger? A new assessment of genes in the schizophrenia-associated 3q29 deletion locus for contribution to neurodevelopmental disorders.

Journal of neurodevelopmental disorders·2026
Same author

Genetic insights on the mechanisms of human cortical folding.

bioRxiv : the preprint server for biology·2026
Same author

Female iPSC X-chromosome inactivation (XCI) erosion and its transcriptomic effects during CRISPR gene editing and neural differentiation.

bioRxiv : the preprint server for biology·2026
Same author

Suppressive Genetic Interactions Between Haploinsufficient Mitochondrial Genes Encoded in the 22q11.2 Microdeletion Locus Define Brain and Cardiac Phenotypes.

bioRxiv : the preprint server for biology·2026
Same author

Obstacles, Opportunities, and Ethical Considerations for Genomic Investigations of Individuals Continuously Hospitalized with Treatment-resistant Schizophrenia.

Schizophrenia bulletin open·2025

Related Experiment Video

Updated: May 8, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

19.5K

Copy Number Variants: Deletion and Duplication Syndromes.

Matthew K Harner1,2, Daniela V Bishop1, Rebecca M Pollak1

  • 1Center for Advanced Biotechnology and Medicine, Rutgers University, Piscataway, New Jersey, USA;

Annual Review of Genomics and Human Genetics
|April 25, 2025
PubMed
Summary

Rare genetic copy number variants (CNVs) are linked to neuropsychiatric disorders like autism and schizophrenia. Research into these CNVs, particularly mitochondrial pathways, offers new clinical intervention opportunities.

Keywords:
autismcopy number variantgenomic disordersschizophrenia

More Related Videos

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

11.5K
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.0K

Related Experiment Videos

Last Updated: May 8, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

19.5K
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

11.5K
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.0K

Area of Science:

  • Neurogenetics
  • Developmental Neuroscience
  • Genomic Medicine

Background:

  • Rare genetic variants, including copy number variants (CNVs), provide critical insights into common disease mechanisms.
  • CNVs are associated with increased risk for complex neuropsychiatric disorders such as autism, intellectual disability, and schizophrenia.
  • Investigating CNVs offers a pathway to understanding the biological underpinnings of these conditions.

Purpose of the Study:

  • To review the current challenges and opportunities in neurodevelopmental CNV research.
  • To highlight the potential of CNVs in understanding disease mechanisms and developing novel treatments.
  • To emphasize the clinical relevance of early, targeted interventions for individuals with rare genetic variants.

Main Methods:

  • Review of existing literature on copy number variants and their association with neuropsychiatric disorders.
  • Analysis of cellular and animal models to identify key biological pathways, such as mitochondrial dysregulation.
  • Examination of clinical studies and data to assess intervention strategies and patient outcomes.

Main Results:

  • Mitochondrial dysregulation has been identified as a significant pathway implicated by multiple CNVs in cellular and animal models.
  • CNVs serve as valuable entry points for dissecting the biological mechanisms underlying autism, intellectual disability, and schizophrenia.
  • There is a growing potential for clinical interventions to improve the quality of life for individuals affected by rare genetic variants.

Conclusions:

  • Understanding neurodevelopmental CNVs is crucial for advancing research in both laboratory and clinical settings.
  • Early, targeted interventions based on robust clinical data are essential for optimizing patient outcomes.
  • Continued research into CNVs holds promise for novel therapeutic approaches and improved patient care in neuropsychiatric disorders.