Alternative splicing in multiple sclerosis and other autoimmune diseases

被引:65
作者
Evsyukova, Irina [1 ,2 ]
Somarelli, Jason A. [1 ,3 ]
Gregory, Simon G. [4 ]
Garcia-Blanco, Mariano A. [1 ,3 ,5 ]
机构
[1] Duke Univ, Med Ctr, Ctr RNA Biol, Durham, NC 27706 USA
[2] Duke Univ, Med Ctr, Dept Biochem, Durham, NC 27710 USA
[3] Duke Univ, Med Ctr, Dept Mol Genet & Microbiol, Durham, NC 27710 USA
[4] Duke Univ, Med Ctr, Ctr Human Genet, Durham, NC 27710 USA
[5] Duke Univ, Med Ctr, Dept Med, Durham, NC 27710 USA
关键词
alternative splicing; autoimmune disease; SNP; multiple sclerosis; interleukin 7 receptor alpha chain; SYSTEMIC-LUPUS-ERYTHEMATOSUS; ZETA MESSENGER-RNA; T-CELL EXHAUSTION; SOLUBLE FORM; INTERLEUKIN-7; RECEPTOR; PERIPHERAL-BLOOD; CTLA-4; GENE; NO EVIDENCE; TCR-ZETA; CYTOPLASMIC DOMAINS;
D O I
10.4161/rna.7.4.12301
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
引用
收藏
页码:462 / 473
页数:12
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