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Related Concept Videos

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%...
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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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.
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Multi-species Conserved Sequences02:51

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Genomic DNA in Eukaryotes00:58

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Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.

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Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
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Population structure in a comprehensive genomic data set on human microsatellite variation.

Trevor J Pemberton1, Michael DeGiorgio, Noah A Rosenberg

  • 1Department of Biology, Stanford University, Stanford, California 94305, USA. pembertont@med.umanitoba.ca

G3 (Bethesda, Md.)
|April 4, 2013
PubMed
Summary

This study synthesizes microsatellite data from nearly 6,000 individuals across 267 populations, identifying close relatives and comparing human and chimpanzee genetic variation. The combined dataset is a valuable resource for population genetics research.

Keywords:
population structurerelativesshort tandem repeats

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Area of Science:

  • Human population genetics
  • Genomics
  • Evolutionary biology

Background:

  • Microsatellite genotypes are crucial for studying human population-genetic variation.
  • Previous studies faced challenges due to disparate data preparation methods and marker sets, hindering data synthesis.
  • A unified dataset is needed for comprehensive population-genetic analysis.

Purpose of the Study:

  • To create a large, standardized microsatellite dataset by combining existing human population-genetic data.
  • To analyze genetic relatedness within and between human populations and identify close relatives.
  • To compare patterns of genetic variation between humans and chimpanzees.

Main Methods:

  • Combined eight human microsatellite datasets, harmonizing procedural differences across 645 shared loci.
  • Assembled a dataset of 5,795 individuals from 267 worldwide populations.
  • Augmented human data with 84 chimpanzees at 246 shared loci, employing multidimensional scaling and neighbor-joining analyses.

Main Results:

  • Generated the largest combined microsatellite dataset to date.
  • Identified 240 intra-population and 92 inter-population pairs of previously unknown close relatives.
  • Proposed standardized subsets of unrelated individuals for future studies.
  • Provided new insights into human population structure and comparative genetic variation with chimpanzees.

Conclusions:

  • The integrated dataset offers a valuable resource for human population-genetic studies.
  • Standardized data and analysis methods enhance the reliability of population genetics research.
  • Comparative genomic analysis reveals insights into human and chimpanzee evolutionary relationships.