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Fig. 4 | Mobile DNA

Fig. 4

From: Genomic approaches to trace the history of human brain evolution with an emerging opportunity for transposon profiling of ancient humans

Fig. 4

Characterization and functional validation of TE insertions. (A) Bioinformatic identification and experimental validation of TE insertions. Putative TE insertions are validated by PCR and Sanger sequencing. Alternatively, insertions can be computationally confirmed and reconstructed using modern human short- and long-reads sequencing data. (C) Investigating functional impact of TE insertions. TE insertions can be cloned into the mini-gene and recombinant adeno-associated virus (rAAV) vectors to assess their impact on RNA splicing in vitro and gene expression in vivo, respectively. (D) Understanding the role of TE insertion in brain development. Recent advances in cellular and organoid models, genomic editing technologies, and single-cell multi-omics sequencing allow for the investigation of TE’s functional impacts by characterizing phenotypic changes and dissecting molecular changes in gene expression, splicing, and epigenetic states in a well-controlled culture environment

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