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Related Concept Videos

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.
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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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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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: May 30, 2025

Author Spotlight: Assessing Ischemic Stroke Damage Through Middle Cerebral Artery Occlusion Model
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Ide Copy Number Variant Does Not Influence Stroke Severity in 2 C57BL/6J Mouse Models nor in Humans: An Exploratory

Marco Foddis1, Sonja Blumenau1, Susanne Mueller1,2

  • 1Department of Experimental Neurology, Center for Stroke Research Berlin (CSB), Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Germany (M.F., S.B., S.M., K.W., M.E., A.M., U.D., C.S.).

Stroke
|January 27, 2025
PubMed
Summary

Genetic variations in the Ide gene, including copy number variants, are rare in C57BL/6J mice and do not significantly impact posterior communicating artery patency. These Ide variants also do not appear to cause vascular phenotypes in humans.

Keywords:
carotid stenosisgeneticsmicephenotypestroke

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Area of Science:

  • Genetics and Genomics
  • Cardiovascular Biology
  • Neuroscience

Background:

  • The C57BL/6J mouse strain, widely used in research, exhibits significant genetic and phenotypic variability, with genotype-phenotype links often unclear.
  • Brain collateral plasticity is crucial for stroke survival, and its inheritance pattern, specifically posterior communicating artery (PcomA) patency, was observed to follow Mendelian-like inheritance in mouse models.
  • A copy number variant (CNV) at the Insulin-Degrading Enzyme (Ide) locus has been reported to segregate similarly in C57BL/6J mouse colonies, prompting investigation into its role in PcomA variability.

Purpose of the Study:

  • To investigate whether an Ide CNV explains the observed variability in PcomA patency in C57BL/6J inbred mice.
  • To determine the influence of IDE structural variants (CNVs, gain/loss of function mutations) on cerebrovascular phenotypes in both mouse models and human populations.

Main Methods:

  • Characterization of the collaterome in C57BL/6J mice using advanced imaging (MRI, angiography, cerebral blood flow) and histology across different experimental groups (stenosis, occlusion, naive, sham).
  • Genotyping (Taqman), exome sequencing, and RNA sequencing were performed on mouse samples.
  • Investigation of IDE variants in a large human cohort (UK Biobank, Genomics England) comprising 454,040 cases and controls.

Main Results:

  • An Ide CNV was detected in a mouse model with patent PcomAs, but it did not segregate with the PcomA patency phenotype.
  • Two heterozygous IDE CNVs with loss-of-function effects were identified in human individuals, including patients with hereditary ataxia and congenital heart disease, and healthy individuals.
  • Four IDE loss-of-function point mutations were found in both control and patient populations, with some inherited from healthy parents.

Conclusions:

  • Ide CNVs and loss-of-function variants are rare in the studied populations.
  • These Ide variants do not appear to be a major driver of PcomA variability in C57BL/6J mice.
  • The identified IDE variants do not demonstrate a significant causal role in human vascular phenotypes.