Literature DB >> 20639696

Alternative splicing in multiple sclerosis and other autoimmune diseases.

Irina Evsyukova1, Jason A Somarelli, Simon G Gregory, Mariano A Garcia-Blanco.   

Abstract

Alternative splicing is a general mechanism for regulating gene expression that affects the RNA products of more than 90% of human genes. Not surprisingly, alternative splicing is observed among gene products of metazoan immune systems, which have evolved to efficiently recognize pathogens and discriminate between "self" and "non-self", and thus need to be both diverse and flexible. In this review we focus on the specific interface between alternative splicing and autoimmune diseases, which result from a malfunctioning of the immune system and are characterized by the inappropriate reaction to self-antigens. Despite the widespread recognition of alternative splicing as one of the major regulators of gene expression, the connections between alternative splicing and autoimmunity have not been apparent. We summarize recent findings connecting splicing and autoimmune disease, and attempt to find common patterns of splicing regulation that may advance our understanding of autoimmune diseases and open new avenues for therapy.

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Year:  2010        PMID: 20639696      PMCID: PMC3070910          DOI: 10.4161/rna.7.4.12301

Source DB:  PubMed          Journal:  RNA Biol        ISSN: 1547-6286            Impact factor:   4.652


  124 in total

1.  PTPRC (CD45) C77G mutation does not contribute to multiple sclerosis susceptibility in Sardinian patients.

Authors:  Eleonora Cocco; Maria Rita Murru; Cristina Melis; Lucia Schirru; Elisabetta Solla; Marina Lai; Marcella Rolesu; Maria Giovanna Marrosu
Journal:  J Neurol       Date:  2004-09       Impact factor: 4.849

Review 2.  The soluble CTLA-4 receptor: a new marker in autoimmune diseases.

Authors:  Edyta Pawlak; Iwona Ewa Kochanowska; Irena Frydecka; Marek Kiełbiński; Stanisław Potoczek; Małgorzata Bilińska
Journal:  Arch Immunol Ther Exp (Warsz)       Date:  2005 Jul-Aug       Impact factor: 4.291

3.  Interleukin-6 and soluble interleukin-6 receptors in the synovial fluids from rheumatoid arthritis patients are responsible for osteoclast-like cell formation.

Authors:  S Kotake; K Sato; K J Kim; N Takahashi; N Udagawa; I Nakamura; A Yamaguchi; T Kishimoto; T Suda; S Kashiwazaki
Journal:  J Bone Miner Res       Date:  1996-01       Impact factor: 6.741

4.  Haplotypes of the interleukin 7 receptor alpha gene are correlated with altered expression in whole blood cells in multiple sclerosis.

Authors:  F C McKay; L I Swain; S D Schibeci; J P Rubio; T J Kilpatrick; R N Heard; G J Stewart; D R Booth
Journal:  Genes Immun       Date:  2007-10-11       Impact factor: 2.676

5.  A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus.

Authors:  Robert R Graham; Sergey V Kozyrev; Emily C Baechler; M V Prasad Linga Reddy; Robert M Plenge; Jason W Bauer; Ward A Ortmann; Thearith Koeuth; Ma Francisca González Escribano; Bernardo Pons-Estel; Michelle Petri; Mark Daly; Peter K Gregersen; Javier Martín; David Altshuler; Timothy W Behrens; Marta E Alarcón-Riquelme
Journal:  Nat Genet       Date:  2006-04-16       Impact factor: 38.330

6.  Allelic effects on gene regulation at the autoimmunity-predisposing CTLA4 locus: a re-evaluation of the 3' +6230G>A polymorphism.

Authors:  S M Anjos; W Shao; L Marchand; C Polychronakos
Journal:  Genes Immun       Date:  2005-06       Impact factor: 2.676

7.  Identification of CTLA-4 isoforms produced by alternative splicing and their association with myasthenia gravis.

Authors:  Ming Gu; Maria Kakoulidou; Ricardo Giscombe; Ritva Pirskanen; Ann Kari Lefvert; Lars Klareskog; XiongBiao Wang
Journal:  Clin Immunol       Date:  2008-07-02       Impact factor: 3.969

8.  Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis.

Authors:  Frida Lundmark; Kristina Duvefelt; Ellen Iacobaeus; Ingrid Kockum; Erik Wallström; Mohsen Khademi; Annette Oturai; Lars P Ryder; Janna Saarela; Hanne F Harbo; Elisabeth G Celius; Hugh Salter; Tomas Olsson; Jan Hillert
Journal:  Nat Genet       Date:  2007-07-29       Impact factor: 38.330

9.  Low expression levels of soluble CD1d gene in patients with rheumatoid arthritis.

Authors:  Satoshi Kojo; Akito Tsutsumi; Daisuke Goto; Takayuki Sumida
Journal:  J Rheumatol       Date:  2003-12       Impact factor: 4.666

10.  Heterogeneous nuclear ribonucleoproteins H and F regulate the proteolipid protein/DM20 ratio by recruiting U1 small nuclear ribonucleoprotein through a complex array of G runs.

Authors:  Erming Wang; Franca Cambi
Journal:  J Biol Chem       Date:  2009-02-25       Impact factor: 5.157

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  34 in total

1.  Immune mediated disorders in women with a fragile X expansion and FXTAS.

Authors:  Isha Jalnapurkar; Nuva Rafika; Flora Tassone; Randi Hagerman
Journal:  Am J Med Genet A       Date:  2014-11-14       Impact factor: 2.802

Review 2.  MECHANISMS IN ENDOCRINOLOGY: Alternative splicing: the new frontier in diabetes research.

Authors:  Jonàs Juan-Mateu; Olatz Villate; Décio L Eizirik
Journal:  Eur J Endocrinol       Date:  2015-12-01       Impact factor: 6.664

Review 3.  Pathogenesis of Human Systemic Lupus Erythematosus: A Cellular Perspective.

Authors:  Vaishali R Moulton; Abel Suarez-Fueyo; Esra Meidan; Hao Li; Masayuki Mizui; George C Tsokos
Journal:  Trends Mol Med       Date:  2017-06-13       Impact factor: 11.951

4.  Association Between IL7R Promoter Polymorphisms and Multiple Sclerosis in Turkish Population.

Authors:  Hasan Simsek; Hikmet Geckin; Nilay Padir Sensoz; Edward O List; Ahmet Arman
Journal:  J Mol Neurosci       Date:  2018-11-16       Impact factor: 3.444

5.  A disease-associated polymorphism alters splicing of the human CD45 phosphatase gene by disrupting combinatorial repression by heterogeneous nuclear ribonucleoproteins (hnRNPs).

Authors:  Laura B Motta-Mena; Sarah A Smith; Michael J Mallory; Jason Jackson; Jiarong Wang; Kristen W Lynch
Journal:  J Biol Chem       Date:  2011-04-20       Impact factor: 5.157

6.  Circular RNAs are abundant, conserved, and associated with ALU repeats.

Authors:  William R Jeck; Jessica A Sorrentino; Kai Wang; Michael K Slevin; Christin E Burd; Jinze Liu; William F Marzluff; Norman E Sharpless
Journal:  RNA       Date:  2012-12-18       Impact factor: 4.942

7.  Immune-mediated disorders among women carriers of fragile X premutation alleles.

Authors:  Tri Indah Winarni; Weerasak Chonchaiya; Tanjung Ayu Sumekar; Paul Ashwood; Guadalupe Mendoza Morales; Flora Tassone; Danh V Nguyen; Sultana M H Faradz; Judy Van de Water; Kylee Cook; Alyssa Hamlin; Yi Mu; Paul J Hagerman; Randi J Hagerman
Journal:  Am J Med Genet A       Date:  2012-08-17       Impact factor: 2.802

8.  Cleavage and polyadenylation specificity factor 1 (CPSF1) regulates alternative splicing of interleukin 7 receptor (IL7R) exon 6.

Authors:  Irina Evsyukova; Shelton S Bradrick; Simon G Gregory; Mariano A Garcia-Blanco
Journal:  RNA       Date:  2012-11-14       Impact factor: 4.942

9.  The promoter SNP, but not the alternative splicing SNP, is linked to multiple sclerosis among Jordanian patients.

Authors:  Leena Ibayyan; Rand Zaza; Said Dahbour; Ammar El-Omar; Bilal Samhouri; Mohammad El-Khateeb; Mamoun Ahram
Journal:  J Mol Neurosci       Date:  2013-10-30       Impact factor: 3.444

10.  Upregulation of a spliced variant of human interferon regulatory factor 3 through binding of the transcription factor Sp1 to the promoter.

Authors:  Liang-Hua Zhu; Ling-Zhi Qiu; Wei Ren; Guo-Ping Zhou
Journal:  Biomed Rep       Date:  2013-11-06
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