Exon Organization, Coding Sequence, Physical Mapping, and Polymorphic Intragenic Markers for the Human Neuronal Sodium Channel GeneSCN8A

Plummer, Nicholas W.; Galt, James R.; Jones, Julie Miller; Burgess, Daniel L.; Sprunger, Leslie K.; Kohrman, David C.; Meisler, Miriam H.

doi:10.1006/geno.1998.5550

Cited by 81 publications

(84 citation statements)

References 48 publications

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“…IIISS2, see Table 2). Exon positions are derived from rat SCN6A (Plummer et al, 1998). Forward and Reverse primers are noted by "F" and "R", respectively.…”

Section: Discussionmentioning

confidence: 99%

“…First, we focused on the inter-domain loop region between transmembrane domains I and II (loop I-II). In mammals, SCN4A has two exons coding for loop I-II while genes in the three other SCNA groups have four (Dib-Hajj et al 1999b;George et al 1993;Plummer et al 1998;Souslova et al 1997;Wang et al 1996). Similar to mammals, one zebrafish gene, scn4aa, has two exons, E9 and E10 (Table 3).…”

Section: Exon Organization Of Scna Genesmentioning

confidence: 99%

“…We also examined the regions coding for loop II-III, because it also has variable exon organization in mammals (Dib-Hajj et al 1999b;George et al 1993;Plummer et al 1998;Souslova et al 1997;Wang et al 1996). For loop II-III, SCN5A, SCN10A and SCN11A have three exons (E14, E15A, E15B), while other SCNA genes typically have only two (E14 and E15 only; (Dib-Hajj et al 1999b;George et al 1993;Plummer et al 1998;Souslova et al 1997;Wang et al 1996;Plummer and Meisler 1999).…”

Section: Exon Organization Of Scna Genesmentioning

confidence: 99%

“…For loop II-III, SCN5A, SCN10A and SCN11A have three exons (E14, E15A, E15B), while other SCNA genes typically have only two (E14 and E15 only; (Dib-Hajj et al 1999b;George et al 1993;Plummer et al 1998;Souslova et al 1997;Wang et al 1996;Plummer and Meisler 1999). Because the genomic databases were not sufficiently annotated in the relevant regions, we performed RT-PCR analyses.…”

Section: Exon Organization Of Scna Genesmentioning

confidence: 99%

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Gene Duplications and Evolution of Vertebrate Voltage-Gated Sodium Channels

Novak¹,

Jost

et al. 2006

J Mol Evol

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Abstract.Voltage-gated sodium channels underlie action potential generation in excitable tissue.To establish the evolutionary mechanisms that shaped the vertebrate sodium channel a-subunit (SCNA) gene family and their encoded Na v 1 proteins, we identified all SCNA genes in several teleost species. Molecular cloning revealed that teleosts have eight SCNA genes, comparable to the number in another vertebrate lineage, mammals.Prior phylogenetic analyses had indicated that teleosts and tetrapods share four monophyletic groups of SCNA genes and that tandem duplications selectively expanded the number of genes in two of the four mammalian groups. However, the number of genes in each group varies between teleosts and tetrapods suggesting different evolutionary histories in the two vertebrate lineages. Our findings from phylogenetic analysis and chromosomal mapping of Danio rerio genes indicate that tandem duplications are an unlikely mechanism for generation of the extant teleost SCNA genes. Instead, analysis of other closely mapped genes in D. rerio supports the hypothesis that a whole genome duplication was involved in expansion of the SCNA gene family in teleosts. Interestingly, despite their different evolutionary histories, mRNA analyses demonstrated a conservation of expression patterns for SCNA orthologues in teleosts and tetrapods, suggesting functional conservation.

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“…IIISS2, see Table 2). Exon positions are derived from rat SCN6A (Plummer et al, 1998). Forward and Reverse primers are noted by "F" and "R", respectively.…”

Section: Discussionmentioning

confidence: 99%

Section: Exon Organization Of Scna Genesmentioning

confidence: 99%

Section: Exon Organization Of Scna Genesmentioning

confidence: 99%

Section: Exon Organization Of Scna Genesmentioning

confidence: 99%

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Gene Duplications and Evolution of Vertebrate Voltage-Gated Sodium Channels

Novak¹,

Jost

et al. 2006

J Mol Evol

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“…Our goal was to catalog and quantify alternative splicing events that occur in SCN8A (encoding Nav1.6, PN4), SCN9A (encoding Nav 1.7, PN1), and SCN11A (encoding Nav 1.9, PN5). As an example, previous research had shown alternative splicing of SCN8A transcripts (14,15). In rat DRG, alternative splicing extends the reading frame of exon 11, resulting in a channel that has altered kinetics of inactivation and reactivation relative to the non-extended isoform (12).…”

mentioning

confidence: 99%

Expression of Alternatively Spliced Sodium Channel α-Subunit Genes

Raymond

Castle

Garrett-Engele

et al. 2004

Journal of Biological Chemistry

109

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Molecular medicine requires the precise definition of drug targets, and tools are now in place to provide genome-wide information on the expression and alternative splicing patterns of any known gene. DNA microarrays were used to monitor transcript levels of the nine well-characterized ␣-subunit sodium channel genes across a broad range of tissues from cynomolgus monkey, a non-human primate model. Alternative splicing of human transcripts for a subset of the genes that are expressed in dorsal root ganglia, SCN8A (Na v 1.6), SCN9A (Na v 1.7), and SCN11A (Na v 1.9) was characterized in detail. Genomic sequence analysis among gene family paralogs and between cross-species orthologs suggested specific alternative splicing events within transcripts of these genes, all of which were experimentally confirmed in human tissues. Quantitative PCR revealed that certain alternative splice events are uniquely expressed in dorsal root ganglia. In addition to characterization of human transcripts, alternatively spliced sodium channel transcripts were monitored in a rat model for neuropathic pain. Consistent down-regulation of all transcripts was observed, as well as significant changes in the splicing patterns of SCN8A and SCN9A.

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