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Related Concept Videos

Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders01:27

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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.
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Biological Causes of Schizophrenia01:29

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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.
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Comparing Copy Number Variations and SNPs02:26

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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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Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
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Single Nucleotide Polymorphisms-SNPs01:05

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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,...
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Related Experiment Video

Updated: Jun 25, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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Structure of a polymorphic repeat at the CACNA1C schizophrenia locus.

Raquel Moya1, Xiaohan Wang2,3, Richard W Tsien2,3

  • 1Institute for Systems Genetics, NYU School of Medicine, New York, NY 10016, USA.

Medrxiv : the Preprint Server for Health Sciences
|May 27, 2024
PubMed
Summary

Genetic variation in the CACNA1C gene

Area of Science:

Keywords:
Variable-number tandem repeatcalcium channellong-read genome assembliesschizophrenia

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  • Neurogenetics
  • Human genomics
  • Molecular biology

Background:

  • Genetic variations in the CACNA1C gene's intron 3 are linked to schizophrenia and bipolar disorder.
  • Analyzing causal variants is challenging due to a nearby variable-number tandem repeat (VNTR).

Conclusions:

  • Sequence variation within a human-specific VNTR in CACNA1C influences gene expression.
  • Provides a detailed characterization of novel alleles at a key neuropsychiatric locus.