In vivo mutation of pre-mRNA processing factor 8 (Prpf8) affects transcript splicing, cell survival and myeloid differentiation
- Keightley, MC; Crowhurst, MO; Layton, JE; Beilharz, T; Markmiller, S; Varma, S; Hogan, BM; de Jong-Curtain, TA; Heath, JK; Lieschke, GJ;
Publication Year 2013-07-11, Volume 587, Issue #14, Page 2150-7
- Journal Title
- FEBS letters
- Publication Type
- Journal Article
- Mutated spliceosome components are recurrently being associated with perturbed tissue development and disease pathogenesis. Cephalophonus (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 early haematopoiesis, myeloid differentiation is impaired, suggesting Prpf8 is required for haematopoietic development. Cph provides an animal model for zygotic PRPF8 dysfunction diseases and for evaluating therapeutic interventions.
- WEHI Research Division(s)
- Chemical Biology
- Link To PubMed Central Version
- Publisher's Version
- Rights Notice
- Copyright © 2013 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.
Creation Date: 2014-02-13 03:23:11Last Modified: 0001-01-01 12:00:00