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

19.4K
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%...
19.4K
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

121
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
121
Biological Causes of Schizophrenia01:29

Biological Causes of Schizophrenia

1.2K
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...
1.2K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

20.4K
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,...
20.4K
RNA Splicing01:32

RNA Splicing

61.9K
Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
61.9K
Alternative RNA Splicing02:18

Alternative RNA Splicing

27.6K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
27.6K

You might also read

Related Articles

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

Sort by
Same author

Adverse Childhood Experiences and Growth Outcomes in Childhood: A Longitudinal EHR-Based Study.

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

Co-expression-based models improve eQTL predictions for transcriptome-wide association studies and highlight new schizophrenia-associated genes.

Nature genetics·2026
Same author

Evaluating Sycophancy in Frontier Models Using Persona-Driven Challenge.

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

PS FAD mutants and γ-secretase inhibition accumulate VEGFR2-derived peptide VCTF1 suppressing brain VEGFR2 dimerization, angiogenesis and neuroprotection.

bioRxiv : the preprint server for biology·2026
Same author

Life's Essential 8 and Incident Cardiovascular Disease: Validation Using Real World Data from Consumer Devices in the All of Us Research Program.

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

Population-scale repeat expansions elucidate disease risk and brain atrophy.

Nature·2026
Same journal

Jagged1<sup>+</sup> Tregs mediate lymphatic remodeling in tumor-draining lymph nodes.

Cell reports·2026
Same journal

Combining genotoxic gut bacterial strains increases tumor burden and accelerates onset in a germ-free mouse model of colon carcinogenesis.

Cell reports·2026
Same journal

Striatal neuron dysfunction in C9ORF72-FTD/ALS is driven by AIS and potassium channel dysregulation.

Cell reports·2026
Same journal

Lectins of the Emp47/ERGIC-53 family target misfolded O-mannosylated ER proteins to ER-associated degradation.

Cell reports·2026
Same journal

Single-nucleotide RNA m<sup>6</sup>A mapping in bovine preimplantation development reveals site-specific regulation of RPL12 at zygotic genome activation.

Cell reports·2026
Same journal

M4-ipRGCs regulate contrast sensitivity in vision.

Cell reports·2026
See all related articles

Related Experiment Video

Updated: Apr 20, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.6K

A role for noncoding variation in schizophrenia.

Panos Roussos1, Amanda C Mitchell2, Georgios Voloudakis2

  • 1Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; James J. Peters VA Medical Center, Mental Illness Research Education and Clinical Center (MIRECC), 130 West Kingsbridge Road, Bronx, NY 10468, USA.

Cell Reports
|December 3, 2014
PubMed
Summary
This summary is machine-generated.

Schizophrenia risk variants are found in noncoding DNA. These variants influence gene expression in the brain, revealing a link between genetic risk, 3D genome structure, and brain function.

More Related Videos

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.7K
Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

19.6K

Related Experiment Videos

Last Updated: Apr 20, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.6K
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.7K
Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

19.6K

Area of Science:

  • Neurogenetics
  • Genomics
  • Molecular Biology

Background:

  • Common genetic risk for schizophrenia largely resides in noncoding DNA with unknown functions.
  • Understanding the functional impact of these noncoding variants is crucial for deciphering schizophrenia pathogenesis.

Purpose of the Study:

  • To investigate the functional role of noncoding schizophrenia risk variants.
  • To explore the relationship between these variants, gene expression, and 3D genome architecture in the brain.

Main Methods:

  • Analysis of schizophrenia risk variants for enrichment in regulatory elements (promoters, enhancers).
  • Expression quantitative trait loci (eQTL) analysis using human brain-derived functional annotations.
  • Regulatory trait concordance analysis to rank genes based on risk SNP, eQTL, and regulatory element colocalization.
  • Investigation of physical interactions between regulatory elements using 3D genome architecture data.
  • Experimental validation in human prefrontal cortex and induced pluripotent stem cell-derived neurons.

Main Results:

  • Schizophrenia risk variants show significant enrichment in promoter and enhancer regions, particularly when using brain-specific functional annotations.
  • Regulatory trait concordance analysis identified candidate genes with potential functional roles.
  • Evidence for physical interactions between noncontiguous regulatory elements was found.
  • These interactions were validated at the CACNA1C risk locus in relevant neuronal models.

Conclusions:

  • Noncoding schizophrenia risk variants are functionally linked to gene regulation in the brain.
  • 3D genome architecture, including chromosomal looping, plays a role in mediating the effects of these variants.
  • Findings highlight the importance of brain-specific regulatory elements and genome architecture in schizophrenia.