Alternative splicing in multiple sclerosis and other autoimmune diseases.
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.
Type
Journal articleSubject
Alternative SplicingAnimals
Autoimmune Diseases
Exons
Humans
Multiple Sclerosis
Receptors, Interleukin-7
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https://hdl.handle.net/10161/3963Collections
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Mariano Agustin Garcia-Blanco
Adjunct Professor in the Molecular Genetics and Microbiology
Human and viral genes are complex genetic units of information that are tightly regulated.
The laboratory studies three aspects of this regulation: the interface between synthesis
of mammalian messenger RNAs and the processing events required to mature these transcripts,
the alternative processing of these messenger RNAs to produce multiple proteins from
one gene, and the regulation of gene expression in human pathogenic flaviviruses.
In the great majority of human transcripts
Simon Gray Gregory
Professor in Neurosurgery
Dr. Gregory is a tenured Professor and Director of the Brain Tumor Omics Program (BTOP)
in the Duke Department of Neurosurgery, the Vice Chair of Research in the Department
of Neurology, and Director of the Molecular Genomics Core at the Duke Molecular Physiology
Institute.
As a neurogenomicist, Dr. Gregory applies the experience gained from leading the sequencing
of chromosome 1 for the Human Genome Project to elucidating the mechanisms underlying
multi-factorial
Jason Andrew Somarelli
Assistant Professor in Medicine
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