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2015 ; 100
(12
): 1429-40
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Tracks through the genome to physiological events
#MMPMID26053180
Lipscombe D
; Pan JQ
; Schorge S
Exp Physiol
2015[Dec]; 100
(12
): 1429-40
PMID26053180
show ga
What is the topic of this review? We discuss tools available to access
genome-wide data sets that harbour cell-specific, brain region-specific and
tissue-specific information on exon usage for several species, including humans.
In this Review, we demonstrate how to access this information in genome databases
and its enormous value to physiology. What advances does it highlight? The sheer
scale of protein diversity that is possible from complex genes, including those
that encode voltage-gated ion channels, is vast. But this choice is critical for
a complete understanding of protein function in the most physiologically relevant
context. Many proteins of great interest to physiologists and neuroscientists are
structurally complex and located in specialized subcellular domains, such as
neuronal synapses and transverse tubules of muscle. Genes that encode these
critical signalling molecules (receptors, ion channels, transporters, enzymes,
cell adhesion molecules, cell-cell interaction proteins and cytoskeletal
proteins) are similarly complex. Typically, these genes are large; human
Dystrophin (DMD) encodes a cytoskeletal protein of muscle and it is the largest
naturally occurring gene at a staggering 2.3 Mb. Large genes contain many
non-coding introns and coding exons; human Titin (TTN), which encodes a protein
essential for the assembly and functioning of vertebrate striated muscles, has
over 350 exons and consequently has an enormous capacity to generate different
forms of Titin mRNAs that have unique exon combinations. Functional and
pharmacological differences among protein isoforms originating from the same gene
may be subtle but nonetheless of critical physiological significance. Standard
functional, immunological and pharmacological approaches, so useful for
characterizing proteins encoded by different genes, typically fail to
discriminate among splice isoforms of individual genes. Tools are now available
to access genome-wide data sets that harbour cell-specific, brain region-specific
and tissue-specific information on exon usage for several species, including
humans. In this Review, we demonstrate how to access this information in genome
databases and its enormous value to physiology.
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