RT Journal Article
T1 Impaired Spermatogenesis, Muscle, and Erythrocyte Function in U12 Intron Splicing-Defective Zrsr1 Mutant Mice.
A1 Horiuchi, Keiko
A1 Perez-Cerezales, Serafín
A1 Papasaikas, Panagiotis
A1 Ramos-Ibeas, Priscila
A1 López-Cardona, Angela Patricia
A1 Laguna-Barraza, Ricardo
A1 Fonseca Balvís, Noelia
A1 Pericuesta, Eva
A1 Fernández-González, Raul
A1 Planells, Benjamín
A1 Viera, Alberto
A1 Suja, Jose Angel
A1 Ross, Pablo Juan
A1 Alén, Francisco
A1 Orio, Laura
A1 Rodríguez de Fonseca, Fernando
A1 Pintado, Belén
A1 Valcárcel, Juan
A1 Gutiérrez-Adán, Alfonso
K1 RNA splicing
K1 Zrsr1 mutant mice
K1 intron retention
K1 minor introns
K1 spermatogenesis defects
AB The U2AF35-like ZRSR1 has been implicated in the recognition of 3' splice site during spliceosome assembly, but ZRSR1 knockout mice do not show abnormal phenotypes. To analyze ZRSR1 function and its precise role in RNA splicing, we generated ZRSR1 mutant mice containing truncating mutations within its RNA-recognition motif. Homozygous mutant mice exhibited severe defects in erythrocytes, muscle stretch, and spermatogenesis, along with germ cell sloughing and apoptosis, ultimately leading to azoospermia and male sterility. Testis RNA sequencing (RNA-seq) analyses revealed increased intron retention of both U2- and U12-type introns, including U12-type intron events in genes with key functions in spermatogenesis and spermatid development. Affected U2 introns were commonly found flanking U12 introns, suggesting functional cross-talk between the two spliceosomes. The splicing and tissue defects observed in mutant mice attributed to ZRSR1 loss of function suggest a physiological role for this factor in U12 intron splicing.
YR 2018
FD 2018
LK http://hdl.handle.net/10668/12310
UL http://hdl.handle.net/10668/12310
LA en
DS RISalud
RD Apr 5, 2025