Genomic organization of the human skeletal muscle sodium channel gene

Journal Article · Mon Mar 01 04:00:00 EST 1993 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1993.1113· OSTI ID:6613925

George, Jr, A L; Iyer, G S; Kleinfield, R; Kallen, R G; Barchi, R L ^[1]

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1. Univ. of Pennsylvania School of Medicine, Philadelphia (United States)

Voltage-dependent sodium channels are essential for normal membrane excitability and contractility in adult skeletal muscle. The gene encoding the principal sodium channel [alpha]-subunit isoform in human skeletal muscle (SCN4A) has recently been shown to harbor point mutations in certain hereditary forms of periodic paralysis. The authors have carried out an analysis of the detailed structure of this gene including delination of intron-exon boundaries by genomic DNA cloning and sequence analysis. The complete coding region of SCN4A is found in 32.5 kb of genomic DNA and consists of 24 exons (54 to >2.2 kb) and 23 introns (97 bp-4.85 kb). The exon organization of the gene shows no relationship to the predicted functional domains of the channel protein and splice junctions interrupt many of the transmembrane segments. The genomic organization of sodium channels may have been partially conserved during evolution as evidenced by the observation that 10 of the 24 splice junctions in SCN4A are positioned in homologous locations in a putative sodium channel gene in Drosophila (para). The information presented here should be extremely useful both for further identifying sodium channel mutations and for gaining a better understanding of sodium channel evolution. 39 refs., 5 figs., 2 tabs.

• OSTI ID: 6613925
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 15:3; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ALKALI METALS
ANIMALS
ARTHROPODS
CLONING
DIPTERA
DNA
DNA HYBRIDIZATION
DNA SEQUENCING
DNA-CLONING
DROSOPHILA
ELEMENTS
FLIES
FRUIT FLIES
GENES
HYBRIDIZATION
INSECTS
INVERTEBRATES
JUNCTIONS
MEMBRANE PROTEINS
MEMBRANE TRANSPORT
METALS
MUSCLES
MUTATIONS
NUCLEIC ACIDS
ORGANIC COMPOUNDS
PROTEINS
SODIUM
STRUCTURAL CHEMICAL ANALYSIS