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Mobile DNA elements in primate and human evolution.

Jinchuan Xing1, David J Witherspoon, David A Ray

  • 1Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA.

American Journal of Physical Anthropology
|November 30, 2007
PubMed
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Mobile DNA elements like Alu and LINE1 comprise half of the primate genome. Their insertion patterns reveal primate evolutionary history and impact genomic functions.

Area of Science:

  • Genomics
  • Evolutionary Biology
  • Molecular Biology

Background:

  • Approximately 50% of the primate genome comprises mobile, repetitive DNA sequences, including Alu and LINE1 elements.
  • Mobile element insertion is a significant factor in genome evolution, with ongoing research into its causes and consequences.

Purpose of the Study:

  • To review the causes and evolutionary consequences of mobile element insertion in primates.
  • To demonstrate the utility of mobile elements in resolving phylogenetic questions.
  • To discuss the impact of mobile elements on genomic processes.

Main Methods:

  • Review of existing literature on mobile element insertion in primate genomes.
  • Analysis of mobile element insertion patterns to resolve primate phylogeny, including the human-chimpanzee-gorilla relationships.

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  • Examination of insertion polymorphisms in human populations for evolutionary and forensic studies.

    • Main Results:

    • Mobile elements, particularly Alu and LINE1, are crucial for understanding primate phylogeny and evolutionary relationships.
    • Insertion polymorphisms of these elements have been used to infer human population history and affinities.
    • Mobile elements influence fundamental genomic processes such as recombination, deletion, and X chromosome inactivation.

    Conclusions:

    • Mobile DNA elements are powerful tools for phylogenetic inference and understanding genome evolution in primates.
    • The study of mobile elements provides insights into human evolution, population genetics, and forensic science.
    • These repetitive sequences play a significant role in shaping genome architecture and function.