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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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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.
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%...
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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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Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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Alternative RNA Splicing02:18

Alternative RNA Splicing

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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...
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Sex-linked Disorders01:43

Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Genome Copying Errors02:46

Genome Copying Errors

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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.
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Related Experiment Video

Updated: Dec 7, 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

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16p11.2 Copy Number Variations and Neurodevelopmental Disorders.

Benjamin Rein1, Zhen Yan1

  • 1Department of Physiology and Biophysics, State University of New York at Buffalo, Jacobs School of Medicine and Biomedical Sciences, Buffalo, NY 14214, USA.

Trends in Neurosciences
|September 30, 2020
PubMed
Summary

Copy number variations (CNVs) at the 16p11.2 locus cause neurodevelopmental disorders. Mouse models show these genetic changes lead to behavioral and synaptic deficits, suggesting therapeutic targets.

Keywords:
16p11.2 deletion and duplicationautism spectrum disordersclinical phenotypesmouse modelsprefrontal cortex

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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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Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs
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Related Experiment Videos

Last Updated: Dec 7, 2025

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

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Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs
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Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs

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Area of Science:

  • Genetics
  • Neuroscience
  • Developmental Biology

Background:

  • Copy number variations (CNVs) in the 16p11.2 region are linked to neurodevelopmental disorders like autism, intellectual disability, and epilepsy.
  • Understanding the genetic basis and phenotypic spectrum of 16p11.2 CNVs is crucial for diagnosis and treatment.

Purpose of the Study:

  • To review genetic information and diverse phenotypes associated with 16p11.2 CNVs in humans.
  • To synthesize preclinical findings from mouse models of 16p11.2 CNVs.
  • To explore mechanisms of transcriptional dysregulation, cortical maldevelopment, and potential therapeutic strategies.

Main Methods:

  • Literature review of genetic studies and clinical data on individuals with 16p11.2 CNVs.
  • Synthesis of preclinical research using transgenic mouse models exhibiting 16p11.2 deletions or duplications.
  • Analysis of findings related to behavioral phenotypes, synaptic function, gene expression, and brain development.

Main Results:

  • 16p11.2 deletions and duplications in mice replicate core behavioral deficits, including social and cognitive impairments.
  • Altered synaptic function is observed across various brain regions in these mouse models.
  • Mechanisms involving transcriptional dysregulation and cortical maldevelopment are implicated.

Conclusions:

  • 16p11.2 CNVs are significant contributors to a spectrum of neurodevelopmental disorders.
  • Transgenic mouse models effectively recapitulate key aspects of human 16p11.2-associated phenotypes.
  • Further research into underlying mechanisms may reveal novel therapeutic interventions for 16p11.2-related conditions.