Literature DB >> 17110909

Pre-mRNA splicing and retinitis pigmentosa.

Daniel Mordes1, Xiaoyan Luo, Amar Kar, David Kuo, Lili Xu, Kazuo Fushimi, Guowu Yu, Paul Sternberg, Jane Y Wu.   

Abstract

Retinitis pigmentosa (RP) is a group of genetically and clinically heterogeneous retinal diseases and a common cause of blindness. Among the 12 autosomal dominant RP (adRP) genes identified, four encode ubiquitously expressed proteins involved in pre-mRNA splicing, demonstrating the important role that pre-mRNA splicing plays in the pathogenesis of retinal degeneration. This review focuses on recent progress in identifying adRP mutations in genes encoding pre-mRNA splicing factors and the potential underlying molecular mechanisms.

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Year:  2006        PMID： 17110909      PMCID： PMC2683577     

Source DB:  PubMed          Journal:  Mol Vis        ISSN： 1090-0535            Impact factor:   2.367


  100 in total

1.  Site-specific cross-linking of mammalian U5 snRNP to the 5' splice site before the first step of pre-mRNA splicing.

Authors:  J R Wyatt; E J Sontheimer; J A Steitz
Journal:  Genes Dev       Date:  1992-12       Impact factor: 11.361

2.  Refined genetic mapping of autosomal dominant retinitis pigmentosa locus RP18 reduces the critical region to 2 cM between D1S442 and D1S2858 on chromosome 1q.

Authors:  S Y Xu; T Rosenberg; A Gal
Journal:  Hum Genet       Date:  1998-04       Impact factor: 4.132

3.  Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3.

Authors:  P McWilliam; G J Farrar; P Kenna; D G Bradley; M M Humphries; E M Sharp; D J McConnell; M Lawler; D Sheils; C Ryan
Journal:  Genomics       Date:  1989-10       Impact factor: 5.736

4.  Construction of a novel database containing aberrant splicing mutations of mammalian genes.

Authors:  K Nakai; H Sakamoto
Journal:  Gene       Date:  1994-04-20       Impact factor: 3.688

5.  Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.

Authors:  J Wells; J Wroblewski; J Keen; C Inglehearn; C Jubb; A Eckstein; M Jay; G Arden; S Bhattacharya; F Fitzke
Journal:  Nat Genet       Date:  1993-03       Impact factor: 38.330

6.  Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa.

Authors:  S G Jacobson; C M Kemp; A V Cideciyan; J P Macke; C H Sung; J Nathans
Journal:  Invest Ophthalmol Vis Sci       Date:  1994-04       Impact factor: 4.799

7.  Nop5p is a small nucleolar ribonucleoprotein component required for pre-18 S rRNA processing in yeast.

Authors:  P Wu; J S Brockenbrough; A C Metcalfe; S Chen; J P Aris
Journal:  J Biol Chem       Date:  1998-06-26       Impact factor: 5.157

8.  Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5.

Authors:  R Y Kim; M al-Maghtheh; F W Fitzke; G B Arden; M Jay; S S Bhattacharya; A C Bird
Journal:  Arch Ophthalmol       Date:  1993-11

9.  A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.

Authors:  C F Inglehearn; S A Carter; T J Keen; J Lindsey; A M Stephenson; R Bashir; M al-Maghtheh; A T Moore; M Jay; A C Bird
Journal:  Nat Genet       Date:  1993-05       Impact factor: 38.330

10.  The pim-1 oncogene encodes two related protein-serine/threonine kinases by alternative initiation at AUG and CUG.

Authors:  C J Saris; J Domen; A Berns
Journal:  EMBO J       Date:  1991-03       Impact factor: 11.598
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  56 in total

Review 1.  Developments in RNA splicing and disease.

Authors:  Michael G Poulos; Ranjan Batra; Konstantinos Charizanis; Maurice S Swanson
Journal:  Cold Spring Harb Perspect Biol       Date:  2011-01-01       Impact factor: 10.005

Review 2.  The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approaches.

Authors:  Elisabeth Daguenet; Gwendal Dujardin; Juan Valcárcel
Journal:  EMBO Rep       Date:  2015-11-13       Impact factor: 8.807

3.  Multiple programmed cell death pathways are involved in N-methyl-N-nitrosourea-induced photoreceptor degeneration.

Authors:  Miriam Reisenhofer; Jasmin Balmer; Rahel Zulliger; Volker Enzmann
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2015-01-21       Impact factor: 3.117

4.  Spliceosomal genes in the D. discoideum genome: a comparison with those in H. sapiens, D. melanogaster, A. thaliana and S. cerevisiae.

Authors:  Bing Yu; Petra Fey; Karen E Kestin-Pilcher; Alexei Fedorov; Ashwin Prakash; Rex L Chisholm; Jane Y Wu
Journal:  Protein Cell       Date:  2011-06-12       Impact factor: 14.870

5.  A snRNP's ordered path to maturity.

Authors:  Saba Valadkhan
Journal:  Genes Dev       Date:  2011-08-01       Impact factor: 11.361

6.  Mutation of a U2 snRNA gene causes global disruption of alternative splicing and neurodegeneration.

Authors:  Yichang Jia; John C Mu; Susan L Ackerman
Journal:  Cell       Date:  2012-01-20       Impact factor: 41.582

Review 7.  Novel regulatory principles of the spliceosomal Brr2 RNA helicase and links to retinal disease in humans.

Authors:  Sina Mozaffari-Jovin; Traudy Wandersleben; Karine F Santos; Cindy L Will; Reinhard Lührmann; Markus C Wahl
Journal:  RNA Biol       Date:  2014-03-05       Impact factor: 4.652

Review 8.  New connections between splicing and human disease.

Authors:  Richard A Padgett
Journal:  Trends Genet       Date:  2012-03-05       Impact factor: 11.639

9.  Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.

Authors:  Lenka Ivings; Katherine V Towns; M A Matin; Charles Taylor; Frederique Ponchel; Richard J Grainger; Rajkumar S Ramesar; David A Mackey; Chris F Inglehearn
Journal:  Mol Vis       Date:  2008-12-18       Impact factor: 2.367

10.  ATP-dependent unwinding of U4/U6 snRNAs by the Brr2 helicase requires the C terminus of Prp8.

Authors:  Corina Maeder; Alan K Kutach; Christine Guthrie
Journal:  Nat Struct Mol Biol       Date:  2008-12-21       Impact factor: 15.369
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