Ontology highlight
ABSTRACT:
SUBMITTER: Keightley MC
PROVIDER: S-EPMC3820954 | biostudies-literature | 2013 Jul
REPOSITORIES: biostudies-literature
Keightley Maria-Cristina MC Crowhurst Meredith O MO Layton Judith E JE Beilharz Traude T Markmiller Sebastian S Varma Sony S Hogan Benjamin M BM de Jong-Curtain Tanya A TA Heath Joan K JK Lieschke Graham J GJ
FEBS letters 20130525 14
Mutated spliceosome components are recurrently being associated with perturbed tissue development and disease pathogenesis. Cephalophŏnus (cph), is a zebrafish mutant carrying an early premature STOP codon in the spliceosome component Prpf8 (pre-mRNA processing factor 8). Cph initially develops normally, but then develops widespread cell death, especially in neurons, and is embryonic lethal. Cph mutants accumulate aberrantly spliced transcripts retaining both U2- and U12-type introns. Within ear ...[more]