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

Maria-Cristina Keightley; Meredith Crowhurst; Judith E Layton; Traude Helene Beilharz; Sebastian J Markmiller; Sony Varma; Benjamin M Hogan; Tanya A de Jong-Curtain; Joan K Heath; Graham Lieschke

doi:10.1016/j.febslet.2013.05.030

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

Maria-Cristina Keightley, Meredith Crowhurst, Judith E Layton, Traude Helene Beilharz, Sebastian J Markmiller, Sony Varma, Benjamin M Hogan, Tanya A de Jong-Curtain, Joan K Heath, Graham Lieschke

Research output: Contribution to journal › Article › Research › peer-review

33 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	2150 - 2157
Number of pages	8
Journal	FEBS Letters
Volume	587
Issue number	14
DOIs	https://doi.org/10.1016/j.febslet.2013.05.030
Publication status	Published - 2013

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Keightley, M-C., Crowhurst, M., Layton, J. E., Beilharz, T. H., Markmiller, S. J., Varma, S., Hogan, B. M., de Jong-Curtain, T. A., Heath, J. K., & Lieschke, G. (2013). In vivo mutation of pre-mRNA processing factor 8 (Prpf8) affects transcript splicing, cell survival and myeloid differentiation. FEBS Letters, 587(14), 2150 - 2157. https://doi.org/10.1016/j.febslet.2013.05.030

Keightley, Maria-Cristina ; Crowhurst, Meredith ; Layton, Judith E ; Beilharz, Traude Helene ; Markmiller, Sebastian J ; Varma, Sony ; Hogan, Benjamin M ; de Jong-Curtain, Tanya A ; Heath, Joan K ; Lieschke, Graham. / In vivo mutation of pre-mRNA processing factor 8 (Prpf8) affects transcript splicing, cell survival and myeloid differentiation. In: FEBS Letters. 2013 ; Vol. 587, No. 14. pp. 2150 - 2157.

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

abstract = "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.",

author = "Maria-Cristina Keightley and Meredith Crowhurst and Layton, {Judith E} and Beilharz, {Traude Helene} and Markmiller, {Sebastian J} and Sony Varma and Hogan, {Benjamin M} and {de Jong-Curtain}, {Tanya A} and Heath, {Joan K} and Graham Lieschke",

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pages = "2150 -- 2157",

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In vivo mutation of pre-mRNA processing factor 8 (Prpf8) affects transcript splicing, cell survival and myeloid differentiation. / Keightley, Maria-Cristina; Crowhurst, Meredith; Layton, Judith E; Beilharz, Traude Helene; Markmiller, Sebastian J; Varma, Sony; Hogan, Benjamin M; de Jong-Curtain, Tanya A; Heath, Joan K; Lieschke, Graham.

In: FEBS Letters, Vol. 587, No. 14, 2013, p. 2150 - 2157.

Research output: Contribution to journal › Article › Research › peer-review

TY - JOUR

T1 - In vivo mutation of pre-mRNA processing factor 8 (Prpf8) affects transcript splicing, cell survival and myeloid differentiation

AU - Keightley, Maria-Cristina

AU - Crowhurst, Meredith

AU - Layton, Judith E

AU - Beilharz, Traude Helene

AU - Markmiller, Sebastian J

AU - Varma, Sony

AU - Hogan, Benjamin M

AU - de Jong-Curtain, Tanya A

AU - Heath, Joan K

AU - Lieschke, Graham

PY - 2013

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AB - 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.

UR - http://www.ncbi.nlm.nih.gov/pubmed/23714367

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DO - 10.1016/j.febslet.2013.05.030

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EP - 2157

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SN - 0014-5793

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