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Related Concept Videos

Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
Alternative RNA Splicing02:18

Alternative RNA Splicing

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...
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.
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Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders01:27

Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders

Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within the...
Biological Causes of Schizophrenia01:29

Biological Causes of Schizophrenia

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 studies.
Psychological and Sociocultural Causes of Schizophrenia01:29

Psychological and Sociocultural Causes of Schizophrenia

Schizophrenia, a complex psychiatric disorder, has been historically misunderstood. Early psychological theories attributed its origins to childhood trauma and unresponsive parenting. However, contemporary research largely rejects these notions, favoring the vulnerability-stress hypothesis. This model proposes that individuals with a genetic predisposition to schizophrenia may develop the disorder following exposure to significant environmental stressors. Notably, studies on high-risk...

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Related Experiment Video

Updated: May 10, 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

Large recurrent microdeletions associated with schizophrenia.

Hreinn Stefansson1, Dan Rujescu, Sven Cichon

  • 1CNS Division, deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland.

Nature
|August 1, 2008
PubMed
Summary
This summary is machine-generated.

Rare copy number variations (CNVs) are linked to schizophrenia risk. This study identified three specific deletions associated with schizophrenia, highlighting the role of rare genetic variants in severe mental disorders.

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Last Updated: May 10, 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

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

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Area of Science:

  • Genetics
  • Psychiatry
  • Genomic Medicine

Background:

  • Reduced fecundity in severe mental disorders exerts negative selection pressure on risk alleles.
  • This may explain the lack of common variants conferring risk for autism, schizophrenia, and mental retardation.
  • Rare variants may contribute more significantly to overall genetic risk than previously thought.

Purpose of the Study:

  • To identify copy number variations (CNVs) associated with schizophrenia using a genome-wide approach.
  • To investigate the role of de novo CNVs in the genetic etiology of schizophrenia.
  • To validate the association of identified CNVs with schizophrenia and related psychoses.

Main Methods:

  • Genome-wide analysis of 9,878 parent-offspring transmissions to identify de novo CNVs.
  • Association testing of 66 de novo CNVs in 1,433 schizophrenia cases and 33,250 controls (Phase I).
  • Replication analysis of significant deletions in a second sample of 3,285 cases and 7,951 controls (Phase II).

Main Results:

  • Three deletions at 1q21.1, 15q11.2, and 15q13.3 showed nominal association with schizophrenia in Phase I.
  • All three deletions significantly associated with schizophrenia and related psychoses in the combined sample.
  • These identified CNVs are rare, recurrent, and subject to negative selection.

Conclusions:

  • Rare, recurrent CNVs at 1q21.1, 15q11.2, and 15q13.3 are significant risk factors for schizophrenia.
  • CNV analysis is a valuable tool for identifying genetic risk variants in schizophrenia.
  • This research may guide the discovery of additional prevalent risk variants in schizophrenia-related genes and pathways.