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Characteristics of transposable element exonization within human and mouse
Noa Sela1, Britta Mersch, Agnes Hotz-Wagenblatt
1Department of Human Molecular Genetics, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Transposed elements in mammalian genes contribute to evolution. Exonization of these elements, particularly Alu elements, can be population-specific, potentially driving speciation and increasing transcriptome complexity.
Area of Science:
- Genomics
- Evolutionary Biology
- Molecular Biology
Background:
- Transposed elements (TEs) are crucial for mammalian evolution and speciation.
- Exonization, the activation of TEs within introns as alternatively spliced exons, impacts transcriptome and proteome complexity.
Purpose of the Study:
- To investigate evolutionary constraints on TE fixation and exonization in human and mouse protein-coding genes.
- To understand how exonization influences transcriptome and proteome complexity.
Main Methods:
- Analysis of single nucleotide polymorphisms (SNPs) to assess population-specific exonizations.
- Comparative analysis of transposed element (TE) fixation and exonization patterns in human and mouse genomes.
- Identification of primate-specific Alu elements dependent on RNA editing.
Main Results:
- Exonization of TEs is biased towards the start of coding sequences in both human and mouse genes.
- Population-specific exonizations, identified via SNPs, suggest a role in divergence and speciation.
- Differences in SNP density were observed between Alu and other TEs.
- Primate-specific Alu elements requiring RNA editing for exonization were identified.
Conclusions:
- TE fixation and exonization are shaped by evolutionary constraints, influencing gene evolution.
- Exonization of TEs contributes to transcriptome complexity and potentially speciation.
- RNA editing plays a role in the exonization of certain primate-specific Alu elements.
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