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[Alu repeats in the human genome]
I Iu Khitrinskaia1, V A Stepanov, V P Puzyrev
1Institute of Medical Genetics, Tomsk Research Center, Siberian Division, Russian Academy of Sciences, Tomsk, 634050.
Molekuliarnaia Biologiia
|June 21, 2003
Summary
Alu elements, a major part of the human genome, are repetitive DNA sequences that can move and cause genetic disorders. These mobile elements also serve as markers for human evolution studies.
Area of Science:
- Genomics
- Molecular Biology
- Human Genetics
Background:
- Repetitive DNA sequences constitute over 50% of the human genome.
- LINEs (L1) and SINEs (Alu) are the most prevalent mammalian interspersed elements.
- Alu elements are approximately 300 bp dimers derived from the 7SL RNA gene.
Purpose of the Study:
- To investigate the role and significance of Alu elements in the human genome.
- To explore the implications of Alu retroposition in genome evolution and disease.
- To highlight the utility of Alu elements in evolutionary genetic studies.
Main Methods:
- Analysis of Alu element structure, including bipartite promoters and poly(A) tracts.
- Identification of Alu families based on diagnostic mutations.
- Examination of Alu element distribution, polymorphism, and transposition events.
Main Results:
- Alu repeats comprise over 10% of the human genome and are capable of retroposition.
- Alu insertions can lead to hereditary disorders and are associated with carcinogenesis.
- 14 distinct Alu families are known, with some exhibiting polymorphism and recent insertions.
- Transposed Alu copies are valuable markers for studying human population divergence.
Conclusions:
- Alu elements are significant contributors to genome evolution and plasticity.
- Alu retroposition plays a role in genetic diseases and cancer development.
- Alu sequences provide insights into human evolutionary history and population genetics.