Literature DB >> 23714367

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

Maria-Cristina Keightley1, Meredith O Crowhurst, Judith E Layton, Traude Beilharz, Sebastian Markmiller, Sony Varma, Benjamin M Hogan, Tanya A de Jong-Curtain, Joan K Heath, Graham J Lieschke.   

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.
Copyright © 2013 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.

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Year:  2013        PMID： 23714367      PMCID： PMC3820954          DOI： 10.1016/j.febslet.2013.05.030

Source DB:  PubMed          Journal:  FEBS Lett        ISSN： 0014-5793            Impact factor:   4.124


  39 in total

1.  Spliceosome mutations in hematopoietic malignancies.

Authors:  Christopher N Hahn; Hamish S Scott
Journal:  Nat Genet       Date:  2011-12-27       Impact factor: 38.330

2.  Transcriptome profiling and sequencing of differentiated human hematopoietic stem cells reveal lineage-specific expression and alternative splicing of genes.

Authors:  Poching Liu; Jennifer Barb; Kimberly Woodhouse; James G Taylor; Peter J Munson; Nalini Raghavachari
Journal:  Physiol Genomics       Date:  2011-08-09       Impact factor: 3.107

3.  Incomplete splicing, cell division defects, and hematopoietic blockage in dhx8 mutant zebrafish.

Authors:  Milton A English; Lin Lei; Trevor Blake; Stephen M Wincovitch; Raman Sood; Mizuki Azuma; Dennis Hickstein; P Paul Liu
Journal:  Dev Dyn       Date:  2012-03-29       Impact factor: 3.780

4.  RNA-Seq analysis in mutant zebrafish reveals role of U1C protein in alternative splicing regulation.

Authors:  Tanja Dorothe Rösel; Lee-Hsueh Hung; Jan Medenbach; Katrin Donde; Stefan Starke; Vladimir Benes; Gunnar Rätsch; Albrecht Bindereif
Journal:  EMBO J       Date:  2011-04-05       Impact factor: 11.598

5.  The human Prp8 protein is a component of both U2- and U12-dependent spliceosomes.

Authors:  H R Luo; G A Moreau; N Levin; M J Moore
Journal:  RNA       Date:  1999-07       Impact factor: 4.942

6.  Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis.

Authors:  Hideki Makishima; Valeria Visconte; Hirotoshi Sakaguchi; Anna M Jankowska; Sarah Abu Kar; Andres Jerez; Bartlomiej Przychodzen; Manoj Bupathi; Kathryn Guinta; Manuel G Afable; Mikkael A Sekeres; Richard A Padgett; Ramon V Tiu; Jaroslaw P Maciejewski
Journal:  Blood       Date:  2012-02-09       Impact factor: 22.113

7.  Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21.

Authors:  Liat Rainis; Dan Bercovich; Sabine Strehl; Andrea Teigler-Schlegel; Batia Stark; Jan Trka; Ninette Amariglio; Andrea Biondi; Inna Muler; Gideon Rechavi; Helena Kempski; Oskar A Haas; Shai Izraeli
Journal:  Blood       Date:  2003-03-20       Impact factor: 22.113

8.  Structural basis for dual roles of Aar2p in U5 snRNP assembly.

Authors:  Gert Weber; Vanessa F Cristão; Karine F Santos; Sina Mozaffari Jovin; Anna C Heroven; Nicole Holton; Reinhard Lührmann; Jean D Beggs; Markus C Wahl
Journal:  Genes Dev       Date:  2013-02-26       Impact factor: 11.361

Review 9.  RNA degradation in Saccharomyces cerevisae.

Authors:  Roy Parker
Journal:  Genetics       Date:  2012-07       Impact factor: 4.562

10.  Zebrafish usp39 mutation leads to rb1 mRNA splicing defect and pituitary lineage expansion.

Authors:  Yesenia Ríos; Shlomo Melmed; Shuo Lin; Ning-Ai Liu
Journal:  PLoS Genet       Date:  2011-01-13       Impact factor: 5.917
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  31 in total

1.  Genomic incompatibilities in the diploid and tetraploid offspring of the goldfish × common carp cross.

Authors:  Shaojun Liu; Jing Luo; Jing Chai; Li Ren; Yi Zhou; Feng Huang; Xiaochuan Liu; Yubao Chen; Chun Zhang; Min Tao; Bin Lu; Wei Zhou; Guoliang Lin; Chao Mai; Shuo Yuan; Jun Wang; Tao Li; Qinbo Qin; Hao Feng; Kaikun Luo; Jun Xiao; Huan Zhong; Rurong Zhao; Wei Duan; Zhenyan Song; Yanqin Wang; Jing Wang; Li Zhong; Lu Wang; Zhaoli Ding; Zhenglin Du; Xuemei Lu; Yun Gao; Robert W Murphy; Yun Liu; Axel Meyer; Ya-Ping Zhang
Journal:  Proc Natl Acad Sci U S A       Date:  2016-01-14       Impact factor: 11.205

2.  Incomplete splicing of neutrophil-specific genes affects neutrophil development in a zebrafish model of poikiloderma with neutropenia.

Authors:  Prakash Patil; Tamayo Uechi; Naoya Kenmochi
Journal:  RNA Biol       Date:  2015       Impact factor: 4.652

3.  A Drosophila model to study retinitis pigmentosa pathology associated with mutations in the core splicing factor Prp8.

Authors:  Dimitrije Stanković; Ann-Katrin Claudius; Thomas Schertel; Tina Bresser; Mirka Uhlirova
Journal:  Dis Model Mech       Date:  2020-06-26       Impact factor: 5.758

4.  Aberrant RNA splicing and mutations in spliceosome complex in acute myeloid leukemia.

Authors:  Jianbiao Zhou; Wee-Joo Chng
Journal:  Stem Cell Investig       Date:  2017-02-09

5.  Cwc27, associated with retinal degeneration, functions as a splicing factor in vivo.

Authors:  Renae Elaine Bertrand; Jun Wang; Yumei Li; Xuesen Cheng; Keqing Wang; Peter Stoilov; Rui Chen
Journal:  Hum Mol Genet       Date:  2022-04-22       Impact factor: 5.121

6.  Minor class splicing shapes the zebrafish transcriptome during development.

Authors:  Sebastian Markmiller; Nicole Cloonan; Rea M Lardelli; Karen Doggett; Maria-Cristina Keightley; Yeliz Boglev; Andrew J Trotter; Annie Y Ng; Simon J Wilkins; Heather Verkade; Elke A Ober; Holly A Field; Sean M Grimmond; Graham J Lieschke; Didier Y R Stainier; Joan K Heath
Journal:  Proc Natl Acad Sci U S A       Date:  2014-02-10       Impact factor: 11.205

7.  Spliceosomal component Sf3b1 is essential for hematopoietic differentiation in zebrafish.

Authors:  Adriana De La Garza; Rosannah C Cameron; Sara Nik; Sara G Payne; Teresa V Bowman
Journal:  Exp Hematol       Date:  2016-06-01       Impact factor: 3.084

8.  Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells.

Authors:  H Dolatshad; A Pellagatti; M Fernandez-Mercado; B H Yip; L Malcovati; M Attwood; B Przychodzen; N Sahgal; A A Kanapin; H Lockstone; L Scifo; P Vandenberghe; E Papaemmanuil; C W J Smith; P J Campbell; S Ogawa; J P Maciejewski; M Cazzola; K I Savage; J Boultwood
Journal:  Leukemia       Date:  2014-11-27       Impact factor: 11.528

9.  Multiple components of the spliceosome regulate Mcl1 activity in neuroblastoma.

Authors:  T W Laetsch; X Liu; A Vu; M Sliozberg; M Vido; O U Elci; K C Goldsmith; M D Hogarty
Journal:  Cell Death Dis       Date:  2014-02-20       Impact factor: 8.469

10.  A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing.

Authors:  Paul K Korir; Lisa Roberts; Raj Ramesar; Cathal Seoighe
Journal:  BMC Res Notes       Date:  2014-06-27
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