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Transposable element derived DNaseI-hypersensitive sites in the human genome.
Leonardo Mariño-Ramírez1, I King Jordan
1National Center for Biotechnology Information, National Institutes of Health, Bethesda, MD 20894, USA. marino@ncbi.nlm.nih.gov
Biology Direct
|July 22, 2006
Summary
Transposable elements (TEs) significantly contribute to human gene regulation, with 23% of regulatory sequences derived from TEs in CD4+ T cells. These TE-derived sequences drive gene expression and contribute to evolutionary divergence.
Area of Science:
- Genomics
- Evolutionary Biology
- Molecular Biology
Background:
- Transposable elements (TEs) are abundant genomic sequences influencing genome evolution.
- High-throughput mapping of DNaseI-hypersensitive (HS) sites reveals TE-derived regulatory sequences in the human genome.
Purpose of the Study:
- To characterize the evolutionary and functional aspects of TE-derived human genome regulatory sequences.
- To investigate the role of TEs in generating gene regulatory divergence.
Main Methods:
- Mapping of DNaseI-hypersensitive (HS) sites in CD4+ T cells.
- Analysis of TE-derived sequences within HS sites.
- Comparative analysis of sequence and expression divergence between human and mouse orthologs.
Main Results:
- 23% of human HS regulatory sequences are TE-derived.
- TE-derived HS sites are highly divergent but functionally relevant in driving gene expression.
- Genes regulated by TE-derived HS sites are enriched for immune response functions and show increased divergence between human and mouse.
Conclusions:
- TEs provide a mechanism for generating functionally relevant gene regulatory divergence across evolutionary lineages.
- TE-derived regulatory sequences play a significant role in the evolution of immune-related genes.