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Related Concept Videos

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.
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%...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Gene Duplication and Divergence02:37

Gene Duplication and Divergence

The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.
Structure of a Gene01:30

Structure of a Gene

A gene is the fundamental unit of heredity. Every individual has two copies of each gene, one inherited from each parent. Although most people contain the same genes, there is a small fraction that is slightly different amongst people. A gene with a small difference in its sequence of DNA bases forms different alleles, contributing to different phenotypes.
However, only 1% of the DNA is composed of genes that encode proteins; the rest, 99% is non-coding DNA. This non-coding DNA performs...
Cell Specific Gene Expression01:58

Cell Specific Gene Expression

Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
DNA Microarrays02:34

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...

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Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Small-scale copy number variation and large-scale changes in gene expression.

Yuriy Mileyko1, Richard I Joh, Joshua S Weitz

  • 1School of Biology and School of Physics, Georgia Institute of Technology, Atlanta, GA 30332, USA. yuriy.mileyko@biology.gatech.edu

Proceedings of the National Academy of Sciences of the United States of America
|October 24, 2008
PubMed
Summary
This summary is machine-generated.

Gene copy number significantly alters gene expression dynamics in regulatory network motifs. Small changes in gene copies can cause large expression shifts and switch system behaviors, impacting cell fate and evolution.

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Real-time Analysis of Transcription Factor Binding, Transcription, Translation, and Turnover to Display Global Events During Cellular Activation
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An Array-based Comparative Genomic Hybridization Platform for Efficient Detection of Copy Number Variations in Fast Neutron-induced Medicago truncatula Mutants
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Area of Science:

  • Systems Biology
  • Genetics
  • Biophysics

Background:

  • Gene regulatory networks feature overrepresented subgraphs known as network motifs.
  • Understanding gene expression dynamics is crucial for comprehending cellular functions.

Purpose of the Study:

  • To investigate how gene copy number influences the dynamical function of genetic regulatory network motifs.
  • To identify critical gene copy numbers that induce qualitative shifts in gene expression and system behavior.

Main Methods:

  • Analysis of positive feedback, bistable feedback, and toggle switch motifs.
  • Mathematical modeling to determine critical copy numbers and bifurcation conditions.
  • Examination of nonlinear transcriptional feedback and interactions via common transcription factor pools.

Main Results:

  • Gene copy number variations (even single copies) can cause multi-order magnitude changes in gene expression.
  • Small copy number changes in motifs like the repressilator can switch dynamics between oscillatory and equilibrium states.
  • Nonlinear feedback and shared transcription factors explain these copy number-dependent qualitative changes.

Conclusions:

  • Gene copy number is a critical parameter modulating gene regulatory network motif dynamics.
  • Findings are relevant to understanding cell fate determination, synthetic gene circuit behavior, and evolutionary constraints.
  • The study provides methods to determine critical copy numbers and bifurcation conditions for gene expression shifts.