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FEBS Lett. 2013 Jul 11;587(14):2150-7. doi: 10.1016/j.febslet.2013.05.030. Epub 2013 May 25.

In vivo mutation of pre-mRNA processing factor 8 (Prpf8) affects transcript splicing, cell survival and myeloid differentiation.

Author information

1
Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria 3800, Australia.

Abstract

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 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.

PMID:
23714367
PMCID:
PMC3820954
DOI:
10.1016/j.febslet.2013.05.030
[Indexed for MEDLINE]
Free PMC Article

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