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LINE-1 retrotransposons drive human neuronal transcriptome complexity and functional diversification

2023; American Association for the Advancement of Science; Volume: 9; Issue: 44 Linguagem: Inglês

10.1126/sciadv.adh9543

2375-2548

Raquel Garza, Diahann A. M. Atacho, Anita Adami, Patricia Gerdes, Meghna Vinod, PingHsun Hsieh, Ofelia Karlsson, Vivien Horváth, Pia A. Johansson, Ninoslav Pandiloski, Jon Matas-Fuentes, Annelies Quaegebeur, Antonina Kouli, Yogita Sharma, Marie E. Jönsson, Emanuela Monni, Elisabet Englund, Evan E. Eichler, Molly Hammell, Roger A. Barker, Zaal Kokaia, Christopher H. Douse, Johan Jakobsson,

Genomics and Phylogenetic Studies

The genetic mechanisms underlying the expansion in size and complexity of the human brain remain poorly understood. Long interspersed nuclear element-1 (L1) retrotransposons are a source of divergent genetic information in hominoid genomes, but their importance in physiological functions and their contribution to human brain evolution are largely unknown. Using multiomics profiling, we here demonstrate that L1 promoters are dynamically active in the developing and the adult human brain. L1s generate hundreds of developmentally regulated and cell type-specific transcripts, many that are co-opted as chimeric transcripts or regulatory RNAs. One L1-derived long noncoding RNA,