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Related Concept Videos

Complement System01:27

Complement System

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The complement system is a group of approximately 20 plasma proteins that strengthen the body's defenses against infections through opsonization, inflammation, and cell lysis. Opsonization involves coating pathogens with complement proteins, making them more recognizable and facilitating phagocyte engulfment. Certain complement proteins induce inflammation that attracts immune cells to the site of infection. Cell lysis involves the destruction of pathogens through the formation of a...
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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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A complementation test is a simple cross to identify whether the two mutations are located on the same gene or different genes. It was first performed by Edward Lewis in the 1940s while working on fruit flies. He developed the test to identify the location and arrangement of different mutations on chromosomes.
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Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related

Santiago Rodríguez de Córdoba1

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Immunological Reviews
|September 12, 2022
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Summary

Genetic variants in the alternative pathway (AP) of the complement system are linked to various diseases. Understanding these genetic variations, including quantitative trait loci, is crucial for diagnosing and treating complement-related disorders.

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Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • Next-generation sequencing reveals genetic variability in complement system's alternative pathway (AP) components and regulators.
  • AP genetic variants are associated with numerous rare and common diseases, impacting AP activation and regulation.
  • Genotype-phenotype correlations offer insights into disease mechanisms, with diagnostic and therapeutic implications.

Purpose of the Study:

  • To highlight the significance of genetic variants in the AP.
  • To emphasize the limited data on complement expressed quantitative trait loci (eQTLs).
  • To underscore the need for future research on eQTLs and their impact on AP activity.

Main Methods:

  • Analysis of genetic variability using next-generation sequencing.
  • Characterization of genetic variants in coding regions and structural variants.
  • Review of existing literature on AP genetic variants and their disease associations.

Main Results:

  • Genetic variants in AP components and regulators are linked to specific disease phenotypes.
  • Genotype-phenotype correlations provide insights into pathogenic mechanisms.
  • Limited data exists on complement eQTLs, despite their potential importance.

Conclusions:

  • Understanding AP genetic variants is crucial for diagnosing and treating complement-related diseases.
  • Future studies must identify eQTLs and assess their impact on AP activity.
  • Disease susceptibility is determined by additive effects of genetic variants, forming 'complotypes'.