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Related Concept Videos

Elements and Compounds01:27

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Pure substances consist of only one type of matter. A pure substance can be an element or a compound. An element consists of only one type of atom, while a compound consists of two or more types of atoms held together by a chemical bond.
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Pure substances consist of only one type of matter. A pure substance can be an element or a compound. An element consists of only one type of atom, while a compound consists of two or more types of atoms held together by a chemical bond. Elements are classified as atomic or molecular based on the nature of their basic units.
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A chemical symbol is an abbreviation used to indicate an element or an atom of an element. For example, the symbol for mercury is Hg. The same symbol is used to indicate one atom of mercury (microscopic domain) or to label a container of many atoms of the element mercury (macroscopic domain).
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Human Neutrophil Flow Chamber Adhesion Assay
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Retrotransposable genetic elements causing neutrophil defects.

Dirk Roos1, Martin de Boer1

  • 1Sanquin Research, and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.

European Journal of Clinical Investigation
|May 19, 2018
PubMed
Summary
This summary is machine-generated.

Long INterspersed Element-1 (LINE-1) retrotransposition can cause genetic diseases like chronic granulomatous disease (CGD) by disrupting genes. Further investigation into LINE-1 insertions in CGD patients is warranted.

Keywords:
Alu elementLINE-1SVA elementchronic granulomatous diseaseretrotransposition

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Area of Science:

  • Genetics
  • Molecular Biology
  • Human Disease

Background:

  • Retrotransposable elements, including Long INterspersed Element-1 (LINE-1) families, are DNA sequences capable of inserting copies into new genomic locations.
  • LINE-1 elements are autonomous retrotransposons in humans and can lead to gene inactivation and disease.
  • LINE-1 retrotransposition impacts various cellular functions, notably neutrophil function.

Purpose of the Study:

  • To summarize published knowledge on LINE-1 elements in humans.
  • To focus on the impact of LINE-1-mediated retrotransposition on human neutrophil function.
  • To highlight the role of LINE-1 in genetic disorders, specifically chronic granulomatous disease (CGD).

Main Methods:

  • Review of published literature on LINE-1 elements and their transposition.
  • Analysis of known cases of genetic disease caused by LINE-1 activity.
  • Focus on the effect of LINE-1 on NADPH oxidase activity in neutrophils.

Main Results:

  • Retrotransposons cause genetic disease through insertional mutagenesis and nonallelic homologous recombination.
  • LINE-1 retrotransposition affects NADPH oxidase activity in neutrophils.
  • LINE-1 insertions in the CYBB gene cause X-linked CGD; Alu elements, spread by LINE-1, cause deletions in NCF2 and NCF1 genes in autosomal CGD.

Conclusions:

  • The frequency of LINE-1-mediated insertions causing autosomal CGD may be underestimated.
  • Re-examination of DNA from autosomal CGD patients with splice mutations or deletions is recommended to identify LINE-1 insertions.
  • LINE-1 retrotransposition is a significant contributor to genetic diseases, necessitating further research.