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Related Concept Videos

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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Measures of variability are statistical metrics that reveal the dispersion pattern within a dataset. They are pivotal in biostatistics, providing insights into the heterogeneity within health and biological data. Variability signifies the degree to which data points diverge from one another, helping researchers understand the potential range of values and associated uncertainty within the data.
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Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.
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Scientists always try their best to record measurements with the utmost accuracy and precision. However, sometimes errors do occur. These errors can be random or systematic. Random errors are observed due to the inconsistency or fluctuation in the measurement process, or variations in the quantity itself that is being measured. Such errors fluctuate from being greater than or less than the true value in repeated measurements. Consider a scientist measuring the length of an earthworm using a...
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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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Updated: Jun 25, 2025

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion
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Homorepeat variability within the human population.

Pablo Mier1, Miguel A Andrade-Navarro1, Enrique Morett2

  • 1Institute of Organismic and Molecular Evolution, Faculty of Biology, Johannes Gutenberg University Mainz, Hanns-Dieter-Hüsch-Weg 15, 55128 Mainz, Germany.

NAR Genomics and Bioinformatics
|May 22, 2024
PubMed
Summary
This summary is machine-generated.

Genetic variation in human homorepeats is significant, with glutamine homorepeats (polyQ) showing length differences. These variations occur naturally and do not seem to affect observable traits.

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Area of Science:

  • Genetics
  • Evolutionary Biology
  • Genomics

Background:

  • Genetic variation drives evolution.
  • Homorepeat evolution is influenced by DNA replication slippage.
  • Naturally occurring homorepeat length variations are understudied.

Purpose of the Study:

  • To examine amino acid homorepeat length variation in humans.
  • To investigate mutation rates in homorepeat sequences compared to non-repeat sequences.
  • To analyze glutamine homorepeats (polyQ) specifically.

Main Methods:

  • Analysis of 125,748 human exomes.
  • Analysis of 15,708 whole human genomes.
  • Comparative analysis of homorepeat conservation across primates.

Main Results:

  • Significant variability in homorepeat length across the human population.
  • Homorepeat sequences exhibit higher mutation rates than non-repeat sequences.
  • Shorter polyQ sequences show greater length variation; longer ones undergo deletions.
  • PolyQ sequences conserved across primates display less human variation, suggesting selective pressure.

Conclusions:

  • There is substantial natural variation in human homorepeat lengths.
  • Homorepeat length variation does not appear to impact observable traits.
  • Homorepeat evolution is influenced by mutation and selection.