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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
Alu insertion polymorphisms for the study of human genomic diversity.
A M Roy-Engel1, M L Carroll, E Vogel
1Tulane Cancer Center, Department of Environmental Health Sciences, Tulane University Health Sciences Center, New Orleans, Louisiana 70112, USA.
Genetics
|September 19, 2001
Summary
Researchers identified new Alu element subfamilies (Yb9, Yc2) in the human genome. These Alu insertion polymorphisms offer valuable genetic markers for studying human evolution and forensics.
Area of Science:
- Genomics
- Molecular Biology
- Human Genetics
Background:
- Alu elements are repetitive sequences in the human genome.
- Genomic database mining aids in identifying and retrieving these elements.
Purpose of the Study:
- To identify and characterize recently integrated Alu elements in the human genome.
- To investigate the potential of new Alu subfamilies as genetic markers.
Main Methods:
- Genomic database mining (GenBank).
- Analysis of Alu elements for subfamily classification and insertion polymorphism.
- Characterization of Alu Yc1 subfamily members.
Main Results:
- Identification of two novel Alu subfamilies: Alu Yb9 and Alu Yc2.
- Characterization of existing Alu Yc1 subfamily members.
- Discovery of polymorphic Alu insertions in diverse human populations, with approximately one-third of analyzed elements showing presence/absence variation.
- Association of three disease-linked Alu Y elements with the Yc1 subfamily.
Conclusions:
- Newly identified Alu insertion polymorphisms serve as identical-by-descent genetic markers for human evolution and forensics.
- The Yc1 subfamily exhibits retroposition potential, as evidenced by its association with disease-linked elements.
- The overall Alu Y subfamily shows a low amplification rate in the current human genome.
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