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Identity by descent and DNA sequence variation of human SINE and LINE elements
A-H Salem1, D A Ray, M A Batzer
1Department of Biological Sciences, Biological Computation and Visualization Center, Louisiana State University, Baton Rouge 70803, USA.
Cytogenetic and Genome Research
|November 17, 2004
Summary
Mobile element insertions, like Alu and L1 elements, are reliable genetic markers. These findings support their use in studying human population genetics and evolution.
Area of Science:
- Genetics
- Population Genetics
- Molecular Evolution
Background:
- Mobile genetic elements, such as Alu and L1 elements, are prevalent in the human genome.
- Understanding their insertion patterns is crucial for tracing human evolutionary history.
Purpose of the Study:
- To evaluate the hypothesis that Alu and L1 elements are homoplasy-free genetic markers.
- To assess the utility of these elements in human population genetics.
Main Methods:
- Sequencing of five human L1 elements and eleven Alu elements from 160 chromosomes across four diverse human populations.
- Analysis of nucleotide diversity and segregating sites at L1 and Alu loci.
Main Results:
- Identified 292 segregating sites in L1 loci (nucleotide diversity 0.0050) and 129 in Ya5 Alu loci (nucleotide diversity 0.0045).
- Observed variation in sequence diversity among different Alu and L1 elements.
- No deleted Alu or L1 alleles were detected.
Conclusions:
- Alu and L1 elements exhibit minimal homoplasy, supporting their use as genetic markers.
- Mobile element insertions are effectively identical by descent characters.
- These findings validate the application of mobile element insertions in human population genetics studies.
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