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Related Concept Videos

What is Variation?01:14

What is Variation?

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Apart from the measures of central tendency, distribution, outliers, and the changing characteristics of data with time, an important characteristic of any data set is its variation or spread. In some data sets, the data values are concentrated closely near the mean; in others, the data values are more widely spread out from the mean.
The range, standard deviation, standard error, and variance are the different measures of variation.
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Variation01:19

Variation

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An important characteristic of any set of data is the variation in the data. In some data sets, the data values are concentrated closely near the mean; in other data sets, the data values are more widely spread out from the mean. The most common measure of variation, or spread, is the standard deviation, which is the square root of variance.
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Proteins can undergo many types of post-translational modifications, often in response to changes in their environment. These modifications play an important role in the function and stability of these proteins. Covalently linked molecules include functional groups, such as methyl, acetyl, and phosphate groups, and also small proteins, such as ubiquitin. There are around 200 different types of covalent regulators that have been identified.
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Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
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Variation of Atmospheric Pressure01:18

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Change in atmospheric pressure with height is particularly interesting. The decrease in atmospheric pressure with increasing altitude is due to the decreasing gravitational force per unit area as we move away from the surface of the earth.
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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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Linking germline and somatic variation in Ewing sarcoma.

Nicholas C Gomez1, Ian J Davis1

  • 1Department of Genetics and the Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

Nature Genetics
|August 28, 2015
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Summary
This summary is machine-generated.

A new study identifies a germline variant associated with Ewing sarcoma susceptibility. This finding highlights the role of gene-regulatory polymorphisms in cancer development and EWSR1-FLI1 gene activation.

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Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Gene-regulatory polymorphisms are crucial for understanding cancer susceptibility.
  • Identifying these polymorphisms can reveal key oncogenic pathways.

Purpose of the Study:

  • To investigate the link between germline variants and Ewing sarcoma susceptibility.
  • To explore the role of EWSR1-FLI1-mediated gene activation in this context.

Main Methods:

  • Germline DNA analysis to identify relevant variants.
  • Gene expression studies to assess EWSR1-FLI1 activity.
  • Statistical association studies to confirm susceptibility links.

Main Results:

  • A specific germline variant was significantly associated with increased Ewing sarcoma risk.
  • This variant correlates with enhanced EWSR1-FLI1-mediated gene activation.
  • The identified pathway provides insights into Ewing sarcoma pathogenesis.

Conclusions:

  • Germline polymorphisms play a role in Ewing sarcoma susceptibility.
  • The EWSR1-FLI1 fusion oncogene is a critical target in Ewing sarcoma.
  • This research opens avenues for novel diagnostic and therapeutic strategies.