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Related Concept Videos

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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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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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
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Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
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Groups of proteins may form a complex where each protein in this complex has a different role in the overall execution of the complex’s function. Often some of the proteins in the complex can be replaced by a closely related variant to give a complex that contains many of the same components yet is functionally distinct.
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Related Experiment Video

Updated: Jun 23, 2025

Personalized Peptide Arrays for Detection of HLA Alloantibodies in Organ Transplantation
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HLA Genes: A Hallmark of Functional Genetic Variation and Complex Evolution.

Tobias L Lenz1

  • 1Research Unit for Evolutionary Immunogenomics, Department of Biology, University of Hamburg, Hamburg, Germany. tobias.lenz@uni-hamburg.de.

Methods in Molecular Biology (Clifton, N.J.)
|June 22, 2024
PubMed
Summary
This summary is machine-generated.

The Major Histocompatibility Complex (MHC) and its HLA genes are crucial for immunity and disease but remain difficult to study. Recent advances offer new insights into MHC variability and antigen-specific immunity.

Keywords:
Adaptive immunityAntigen presentationAntigen-specific immunityGenetic variationHLA genesHost–pathogen coevolutionHuman leukocyte antigen (HLA)ImmunogeneticsMajor histocompatibility complex (MHC)

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Last Updated: Jun 23, 2025

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Area of Science:

  • Genomics
  • Immunology
  • Evolutionary Biology

Background:

  • The Major Histocompatibility Complex (MHC) is a highly polymorphic genomic region.
  • MHC proteins are vital for antigen-specific immunity and linked to numerous diseases.
  • Understanding MHC genetic and genomic variability remains a significant challenge.

Purpose of the Study:

  • To provide an overview of the MHC.
  • To explain the nature of its exceptional variability.
  • To discuss evolutionary processes driving MHC variability and recent advances.

Main Methods:

  • Review of existing literature on MHC genetics and genomics.
  • Analysis of evolutionary processes shaping MHC diversity.
  • Highlighting recent technological and analytical advancements.

Main Results:

  • MHC exhibits exceptional genetic and genomic variability.
  • Polymorphism in MHC/HLA genes is driven by complex evolutionary pressures.
  • Recent advances are improving the characterization of MHC variability.

Conclusions:

  • The MHC's variability is central to its function in immunity and disease.
  • Continued research and advanced methods are essential for understanding MHC.
  • Improved understanding of MHC variability will advance antigen-specific immunity research.