Abstract:
NEW FINDINGS: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.
journal_name
Exp Physioljournal_title
Experimental physiologyauthors
Lipscombe D,Pan JQ,Schorge Sdoi
10.1113/EP085129subject
Has Abstractpub_date
2015-12-01 00:00:00pages
1429-40issue
12eissn
0958-0670issn
1469-445Xjournal_volume
100pub_type
杂志文章,评审abstract::We present a curve-fitting approach that permits quantitative comparisons of fatigue profiles obtained with different stimulation protocols in isolated slow-twitch soleus and fast-twitch extensor digitorum longus (EDL) muscles of mice. Profiles from our usual stimulation protocol (125 Hz for 500 ms, evoked once every ...
journal_title:Experimental physiology
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journal_title:Experimental physiology
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pub_type: 杂志文章,评审
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pub_type: 杂志文章
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journal_title:Experimental physiology
pub_type: 杂志文章
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更新日期:2008-02-01 00:00:00
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pub_type: 杂志文章
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更新日期:2020-08-01 00:00:00
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pub_type: 杂志文章
doi:10.1113/EP088583
更新日期:2020-10-01 00:00:00
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journal_title:Experimental physiology
pub_type: 杂志文章
doi:10.1113/expphysiol.2013.073072
更新日期:2013-09-01 00:00:00
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journal_title:Experimental physiology
pub_type: 杂志文章
doi:10.1113/expphysiol.1996.sp003963
更新日期:1996-07-01 00:00:00
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journal_title:Experimental physiology
pub_type: 杂志文章
doi:10.1113/EP088555
更新日期:2021-01-01 00:00:00
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pub_type: 杂志文章
doi:10.1113/expphysiol.2014.081141
更新日期:2014-10-01 00:00:00
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pub_type: 杂志文章
doi:10.1113/expphysiol.2004.027367
更新日期:2004-07-01 00:00:00
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journal_title:Experimental physiology
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journal_title:Experimental physiology
pub_type: 杂志文章
doi:10.1113/expphysiol.1990.sp003439
更新日期:1990-07-01 00:00:00
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journal_title:Experimental physiology
pub_type: 杂志文章
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journal_title:Experimental physiology
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