TY  - JOUR
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
Y1  - 2022/08/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 1448 
EP  - 1462 
DO  - 10.1101/gr.276395.121 
VL  - 32 
IS  - 8 
UR  - http://genome.cshlp.org/content/32/8/1448.abstract 
N2  - 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. 
ER  -