Transcriptome innovations in primates revealed by single-molecule long-read sequencing

Transcriptomic diversity greatly contributes to the fundamentals of disease, lineage-specific biology, and environmental adaptation. However, much of the actual isoform repertoire contributing to shaping primate evolution remains unknown. Here, we combined deep long- and short-read sequencing comple...

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Detalhes bibliográficos
Autores: Ferrández Peral, Luis, 1991-, Zhan, Xiaoyu, Alvarez-Estape, Marina, Chiva, Cristina, Esteller Cucala, Paula, García Pérez, Raquel, 1989-, Julià, Eva, Lizano González, Esther, 1974-, Fornas Carreño, Oscar, Sabidó Aguadé, Eduard, 1981-, Li, Qiye, Marquès i Bonet, Tomàs, 1975-, Juan, David, Zhang, Guojie
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Recursos:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10230/54542
Acesso em linha:http://hdl.handle.net/10230/54542
http://dx.doi.org/10.1101/gr.276395.121
Access Level:acceso abierto
Descrição
Resumo:Transcriptomic diversity greatly contributes to the fundamentals of disease, lineage-specific biology, and environmental adaptation. However, much of the actual isoform repertoire contributing to shaping primate evolution remains unknown. Here, we combined deep long- and short-read sequencing complemented with mass spectrometry proteomics in a panel of lymphoblastoid cell lines (LCLs) from human, three other great apes, and rhesus macaque, producing the largest full-length isoform catalog in primates to date. Around half of the captured isoforms are not annotated in their reference genomes, significantly expanding the gene models in primates. Furthermore, our comparative analyses unveil hundreds of transcriptomic innovations and isoform usage changes related to immune function and immunological disorders. The confluence of these evolutionary innovations with signals of positive selection and their limited impact in the proteome points to changes in alternative splicing in genes involved in immune response as an important target of recent regulatory divergence in primates.