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Related Concept Videos

What is Population Genetics?01:25

What is Population Genetics?

A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.While some alleles of a given gene might be observed commonly, other variants...
Genetic Variation01:25

Genetic Variation

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.
Genes exist in different versions called alleles, which...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).Mechanisms of Genetic VariationThe original sources of genetic variation are mutations,...
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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Related Experiment Video

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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Gene-expression variation within and among human populations.

John D Storey1, Jennifer Madeoy, Jeanna L Strout

  • 1Department of Biostatistics, University of Washington, Seattle, WA 98195-7730, USA.

American Journal of Human Genetics
|February 3, 2007
PubMed
Summary

Most human gene expression variation occurs within populations, not between them, mirroring genetic diversity patterns. This study reveals how population structure impacts gene expression, aiding disease research.

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10:17

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Single-cell Gene Expression Profiling Using FACS and qPCR with Internal Standards

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Area of Science:

  • Human Genetics
  • Genomics
  • Molecular Biology

Background:

  • Understanding gene expression variation is crucial for insights into phenotypic diversity and disease.
  • Little is known about the apportionment of gene expression variation within and among human populations.

Purpose of the Study:

  • To characterize natural gene expression variation patterns in individuals of European and African ancestry.
  • To determine how gene expression variation is distributed within and between human populations.

Main Methods:

  • Analysis of gene expression levels in 16 individuals from European and African ancestries.
  • Decomposition of total gene expression variation into within- and among-population components.
  • Allele-specific quantitative polymerase chain reaction (qPCR) to investigate cis-regulatory variation.

Main Results:

  • Approximately 83% of genes showed differential expression among individuals, while 17% were differentially expressed among populations.
  • Most gene expression variation was attributed to differences among individuals, not among populations.
  • Identified cis-regulatory variation in SH2B adapter protein 3 contributing to differential expression between ancestral groups.

Conclusions:

  • Human population structure influences gene expression levels, with variation primarily occurring within populations.
  • Findings parallel patterns of human genetic variation, emphasizing individual-level diversity.
  • Provides foundational insights for identifying regulatory quantitative trait loci and understanding gene expression in diverse populations.