Exon 11 skipping of SCN10A coding for voltage-gated  sodium channels in dorsal root ganglia.
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.
Jana
J
Schirmeyer
Karol
K
Szafranski
Enrico
E
Leipold
Christian
C
Mawrin
Matthias
M
Platzer
Stefan H
SH
Heinemann
D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D005091:Exons; D005727:Ganglia, Spinal / Q000378:metabolism*; D006801:Humans; D051379:Mice; D008810:Mice, Inbred C57BL; D008969:Molecular Sequence Data; D062559:NAV1.8 Voltage-Gated Sodium Channel / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D051381:Rats; D017208:Rats, Wistar; D016415:Sequence Alignment
D062559:NAV1.8 Voltage-Gated Sodium Channel; C568317:SCN10A protein, human; C568318:Scn10a protein, mouse; C568319:Scn10a protein, rat