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

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

1.5K
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
1.5K
Mismatch Repair01:20

Mismatch Repair

6.9K
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...
6.9K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

16.4K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
16.4K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

19.0K
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%...
19.0K
Biological Causes of Schizophrenia01:29

Biological Causes of Schizophrenia

923
Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
923
Human Genetics01:28

Human Genetics

1.8K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
1.8K

You might also read

Related Articles

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

Sort by
Same author

A novel and accelerated method for integrated alignment and variant calling from short and long reads.

Frontiers in bioinformatics·2026
Same author

Small variant benchmark from a complete assembly of X and Y chromosomes.

Nature communications·2025
Same author

Dysfunction of mitochondria and GABAergic interneurons in the anterior cingulate cortex of individuals with schizophrenia.

Neuroscience research·2022
Same author

Data Processing and Germline Variant Calling with the Sentieon Pipeline.

Methods in molecular biology (Clifton, N.J.)·2022
Same author

Endothelial <i>GNAQ</i> p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels.

Arteriosclerosis, thrombosis, and vascular biology·2021
Same author

A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.

Human molecular genetics·2021

Related Experiment Video

Updated: Mar 15, 2026

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

782

The Contribution of Mosaic Variants to Autism Spectrum Disorder.

Donald Freed1,2, Jonathan Pevsner1,2,3

  • 1Program in Biochemistry, Cellular and Molecular Biology, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America.

Plos Genetics
|September 16, 2016
PubMed
Summary

Mosaic mutations, or post-zygotic mutations, are frequently detected in autism spectrum disorder (ASD) cases. These multi-tissue mutations contribute to a significant portion of simplex ASD diagnoses.

More Related Videos

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies &#8212; Genetic Models and Behavioral Tests
08:30

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests

Published on: September 6, 2024

2.8K
Strategies for Assessing Autistic-Like Behaviors in Mice
07:38

Strategies for Assessing Autistic-Like Behaviors in Mice

Published on: September 20, 2024

2.7K

Related Experiment Videos

Last Updated: Mar 15, 2026

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

782
Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies &#8212; Genetic Models and Behavioral Tests
08:30

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests

Published on: September 6, 2024

2.8K
Strategies for Assessing Autistic-Like Behaviors in Mice
07:38

Strategies for Assessing Autistic-Like Behaviors in Mice

Published on: September 20, 2024

2.7K

Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Genomic Medicine

Background:

  • De novo mutations are strongly linked to autism spectrum disorder (ASD).
  • The role of post-zygotic mutations, or mosaicism, in ASD etiology remains largely unknown.
  • Understanding mosaic mutations is crucial for a comprehensive view of ASD genetics.

Purpose of the Study:

  • To investigate the contribution of multi-tissue post-zygotic mutations to autism spectrum disorder.
  • To quantify the prevalence and impact of mosaic mutations in ASD.
  • To identify specific genes affected by mosaic mutations in ASD.

Main Methods:

  • Whole-exome sequencing of 2,388 families, including paired samples.
  • Analysis of de novo variants and multi-tissue mosaicism.
  • Development of a statistical model to estimate the contribution of mosaic mutations.

Main Results:

  • Multi-tissue mosaic mutations were found in 5.4% of all de novo mutations.
  • Three mosaic mutations in KMT2C, NCKAP1, and MYH10 were identified in ASD probands.
  • A significant ascertainment bias for mosaic mutations in probands versus siblings was observed (p = 0.003).

Conclusions:

  • Multi-tissue mosaic mutations play a contributory role in a subset of individuals with ASD.
  • Mosaic mutations are estimated to account for 5.1% of simplex ASD diagnoses.
  • Further research into mosaicism is warranted for a complete understanding of ASD pathogenesis.