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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Structural Variation of Alu Element and Human Disease
Songmi Kim1, Chun-Sung Cho2, Kyudong Han1
1Department of Nanobiomedical Science, Dankook University, Cheonan 31116, Korea.; BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan 31116, Korea.
Genomics & Informatics
|October 13, 2016
Summary
Alu elements, abundant in the human genome, cause genomic instability and genetic disorders through various mechanisms. Understanding Alu amplification and its role in rearrangements is key to studying hereditary diseases.
Area of Science:
- Genomics
- Molecular Biology
- Human Genetics
Background:
- Transposable elements contribute to genomic instability via insertion, deletion, and recombination.
- Alu elements, comprising ~10% of the human genome, are primate-specific retrotransposons.
- Alu elements propagate using the L1 retrotransposition machinery, following a 'master gene' model.
Approach:
- This review examines Alu element amplification mechanisms and subfamily diversity.
- It further investigates the role of Alu elements in genomic rearrangements.
- The review also explores the association of Alu elements with human genetic disorders.
Key Points:
- Alu elements are amplified from hyperactive master genes, leading to diverse subfamilies.
- Sequence identity among abundant Alu elements facilitates genomic rearrangements.
- Alu-mediated rearrangements are linked to hereditary diseases, blood disorders, and neurological conditions.
Conclusions:
- Alu elements are significant drivers of genomic instability and human genetic disorders.
- Further research into Alu element biology can elucidate disease mechanisms.
- Targeting Alu-mediated genomic alterations may offer therapeutic strategies for genetic diseases.
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