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In vivo mutation of pre‐mRNA processing factor 8 (Prpf8) affects transcript splicing, cell survival and myeloid differentiation
Author(s) -
Keightley Maria-Cristina,
Crowhurst Meredith O.,
Layton Judith E.,
Beilharz Traude,
Markmiller Sebastian,
Varma Sony,
Hogan Benjamin M.,
de Jong-Curtain Tanya A.,
Heath Joan K.,
Lieschke Graham J.
Publication year - 2013
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/j.febslet.2013.05.030
Subject(s) - rna splicing , mutation , microbiology and biotechnology , messenger rna , biology , myeloid , alternative splicing , cancer research , genetics , gene , rna
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.