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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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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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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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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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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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Genomic copy number variation analysis in multiple system atrophy.

Yuka Hama1, Masataka Katsu1,2, Ichigaku Takigawa3

  • 1Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Kita-15 Nishi-7, Kita-ku, Sapporo, 060-8638, Japan.

Molecular Brain
|December 1, 2017
PubMed
Summary

Copy number variants (CNVs) are increased in Multiple System Atrophy (MSA) patients, particularly on chromosomes 5, 22, and 4. Three specific CNVs in non-coding regions may act as risk factors for this neurodegenerative disorder.

Keywords:
Array-comparative genome hybridizationCopy number variationGenomic DNAMultiple system atrophy

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Area of Science:

  • Genomics
  • Neurogenetics
  • Molecular Biology

Background:

  • Genomic variation encompasses single-nucleotide variants, indels, and copy number variants (CNVs).
  • CNVs, larger than 1kb, significantly impact gene expression by altering genome structure and transposable elements.
  • Multiple System Atrophy (MSA) is an adult-onset α-synucleinopathy characterized by α-synuclein aggregation in oligodendrocytes, with suspected genetic contributions.

Purpose of the Study:

  • To investigate potential differences in CNVs between patients with MSA and healthy controls.
  • To identify specific CNVs associated with the genetic background of MSA.
  • To explore the role of CNVs in the molecular mechanisms underlying MSA pathogenesis.

Main Methods:

  • Comparative analysis of CNVs in MSA patients and normal control subjects.
  • Identification and characterization of CNVs across different chromosomes.
  • Focus on CNVs located in non-coding genomic regions.

Main Results:

  • An increased number of CNVs was observed on chromosomes 5, 22, and 4 in MSA patients compared to controls.
  • Three specific CNVs within non-coding regions were identified as potential risk factors for MSA.
  • These non-coding CNVs are hypothesized to influence gene expression via transcription-related mechanisms.

Conclusions:

  • CNVs, particularly those in non-coding regions, play a significant role in the molecular mechanisms of MSA.
  • The identified CNVs may contribute to disease onset and progression through altered gene expression and chromosomal structural changes.
  • Further research into CNVs is crucial for understanding MSA etiology and developing potential therapeutic strategies.