The genomic structure of the human skeletal muscle sodium channel gene.
The genomic structure of the human skeletal muscle sodium channel gene.
复制标题
人类骨骼肌钠通道基因的基因组结构。
DOI：
10.1093/hmg/1.7.521
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发表时间：
1992
影响因子：
3.5
通讯作者：
Gusella,JF
中科院分区：
文献类型：
--
作者：
McClatchey,AI;Lin,CS;Wang,J;Hoffman,EP;Rojas,C;Gusella,JF
神经元和肌肉细胞的电兴奋性反映了一系列结构相关的钠通道的作用。成人骨骼肌钠通道的突变与遗传性神经肌肉疾病先天性副肌强直 (PMC) 和高钾性周期性麻痹 (HPP) 有关。我们破译了人类骨骼肌钠通道基因的整个基因组结构，并开发了该位点的限制性图谱。SCN4A由24个外显子组成，在染色体17q上跨越35 kb的距离。我们描述了所有内含子/外显子边界的序列、编码序列中多个多态性的存在以及两个二核苷酸重复多态性的内含子内的位置。这是第一个完整基因组结构已被解析的钠通道。提出了与所提出的蛋白质结构相关的 SCN4 外显子的组织，并为钠通道的功能和进化比较奠定了基础。了解 SCN4A 的外显子结构和侧翼内含子序列将允许系统地搜索 PMC 和 HPP 中的突变。
Electrical excitability of neurons and muscle cells reflects the actions of a family of structurally related sodium channels. Mutations in the adult skeletal muscle sodium channel have been associated with the inherited neuromuscular disorders paramyotonia congenita (PMC) and hyperkalemic periodic paralysis (HPP). We have deciphered the entire genomic structure of the human skeletal muscle sodium channel gene and developed a restriction map of the locus.SCN4Aconsists of 24 exons spanning 35 kb of distance on chromosome 17q. We describe the sequence of all intron/exon boundaries, the presence of several polymorphisms in the coding sequence, and the locations within introns of two dinucleotide repeat polymorphisms. This is the first sodium channel for which the entire genomic structure has been resolved. The organization of theSCN4Aexons relative to the proposed protein structure is presented and represents a foundation for functional and evolutionary comparisons of sodium channels. Knowledge of the exon structure and flanking intron sequences forSCN4Awill permit a systematic search for mutations in PMC and HPP.