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Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q.
Department of Molecular, University of Pittsburgh School of Medicine, PA 15261.
The amino acid sequence of the sodium channel alpha subunit from adult human skeletal muscle has been deduced by cross-species PCR-mediated cloning and sequencing of the cDNA. The protein consists of 1836 amino acid residues. The amino acid sequence shows 93% identity to the alpha subunit from rat adult skeletal muscle and 70% identity to the alpha subunit from other mammalian tissues. A 500 kb YAC clone containing the complete coding sequence and two overlapping lambda clones covering 68% of the cDNA were used to estimate the gene size at 35 kb. The YAC clone proved crucial for gene structure studies as the high conservation between ion channel genes made hybridization studies with total genomic DNA difficult. Our results provide valuable information for the study of periodic paralysis and paramyotonia congenita, two inherited neurological disorders which are caused by point mutations within this gene.
PMID: 1310396 [PubMed - indexed for MEDLINE]
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Cited by 3 PubMed Central articles
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RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.
Morrone A, Pegoraro E, Angelini C, Zammarchi E, Marconi G, Hoffman EP.
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[J Clin Invest. 1997]
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Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene.
Wang J, Zhou J, Todorovic SM, Feero WG, Barany F, Conwit R, Hausmanowa-Petrusewicz I, Fidzianska A, Arahata K, Wessel HB.
Am J Hum Genet. 1993 Jun; 52(6):1074-84.
[Am J Hum Genet. 1993]
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Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.
Elbaz A, Vale-Santos J, Jurkat-Rott K, Lapie P, Ophoff RA, Bady B, Links TP, Piussan C, Vila A, Monnier N.
Am J Hum Genet. 1995 Feb; 56(2):374-80.
[Am J Hum Genet. 1995]