Powers P A, Liu S, Hogan K, Gregg R G
Department of Anesthesiology, University of Wisconsin, Madison 53705.
J Biol Chem. 1993 May 5;268(13):9275-9.
cDNA clones of the gamma subunit of the skeletal muscle 1,4-dihydropyridine-sensitive voltage-dependent Ca2+ channel were isolated from a human fetal skeletal muscle cDNA library using the rabbit gamma cDNA as a probe. The DNA sequence of the entire human cDNA was determined. Cosmids that contained the human gamma gene were isolated and used to determine the genomic organization of the coding sequences. Four exons were identified, spanning 12.5 kilobases of DNA. Reverse-transcribed polymerase chain reaction analysis detected the gamma transcript in human and mouse skeletal muscle RNAs, but not in RNA from human brain or cardiac muscle or from mouse brain, cardiac muscle, spleen, kidney, liver, or stomach. A polymorphic dinucleotide repeat within the gamma gene was identified. This repeat was used to type a subset of the Centre d'Etude du Polymorphisme Humain families. Linkage analysis indicates that the gamma gene is tightly linked (Z = 12.94, theta = 0.001) to growth hormone at chromosome 17q23, a region that also contains the adult skeletal muscle Na+ channel.
利用兔γ cDNA作为探针，从人胎儿骨骼肌cDNA文库中分离出骨骼肌1,4 - 二氢吡啶敏感电压依赖性Ca2 +通道γ亚基的cDNA克隆。测定了整个人cDNA的DNA序列。分离出包含人γ基因的黏粒，并用于确定编码序列的基因组结构。鉴定出四个外显子，跨越12.5千碱基的DNA。逆转录聚合酶链反应分析在人和小鼠骨骼肌RNA中检测到γ转录本，但在人脑、心肌或小鼠脑、心肌、脾脏、肾脏、肝脏或胃的RNA中未检测到。在γ基因内鉴定出一个多态性二核苷酸重复序列。该重复序列用于对人类多态性研究中心家族的一个子集进行分型。连锁分析表明，γ基因与17q23染色体上的生长激素紧密连锁（Z = 12.94，θ = 0.001），该区域还包含成人骨骼肌Na +通道。
