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Exon 11 skipping of SCN10A coding for voltage-gated sodium channels in dorsal root ganglia.

ABSTRACT: The voltage-gated sodium channel Na(V)1.8 (encoded by SCN10A) is predominantly expressed in dorsal root ganglia(DRG) and plays a critical role in pain perception. We analyzed SCN10A transcripts isolated from human DRGs using deep sequencing and found a novel splice variant lacking exon 11, which codes for 98 amino acids of the domain I/II linker. Quantitative PCR analysis revealed an abundance of this variant of up to 5–10% in human, while no such variants were detected in mouse or rat. Since no obvious functional differences between channels with and without the exon-11 sequence were detected, it is suggested that SCN10A exon 11 skipping in humans is a tolerated event.

SUBMITTER: Schirmeyer J 

PROVIDER: S-EPMC4203749 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Exon 11 skipping of SCN10A coding for voltage-gated sodium channels in dorsal root ganglia.

Schirmeyer Jana J   Szafranski Karol K   Leipold Enrico E   Mawrin Christian C   Platzer Matthias M   Heinemann Stefan H SH  

Channels (Austin, Tex.) 20140101 3

The voltage-gated sodium channel Na(V)1.8 (encoded by SCN10A) is predominantly expressed in dorsal root ganglia(DRG) and plays a critical role in pain perception. We analyzed SCN10A transcripts isolated from human DRGs using deep sequencing and found a novel splice variant lacking exon 11, which codes for 98 amino acids of the domain I/II linker. Quantitative PCR analysis revealed an abundance of this variant of up to 5–10% in human, while no such variants were detected in mouse or rat. Since no  ...[more]

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