RT Journal
A1 Ferrández-Peral, Luis
A1 Zhan, Xiaoyu
A1 Alvarez-Estape, Marina
A1 Chiva, Cristina
A1 Esteller-Cucala, Paula
A1 García-Pérez, Raquel
A1 Julià, Eva
A1 Lizano, Esther
A1 Fornas, Òscar
A1 Sabidó, Eduard
A1 Li, Qiye
A1 Marquès-Bonet, Tomàs
A1 Juan, David
A1 Zhang, Guojie
T1 Transcriptome innovations in primates revealed by single-molecule long-read sequencing
JF Genome Research 
JO Genome Research 
YR 2022 
FD August 01 
VO 32 
IS 8 
SP 1448 
OP 1462 
DO 10.1101/gr.276395.121 
UL http://genome.cshlp.org/content/32/8/1448.abstract 
AB 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.