A HOUSEKEEPING TYPE PROMOTER, LOCATED IN THE 3' REGION OF THE DUCHENNE MUSCULAR-DYSTROPHY GENE, CONTROLS THE EXPRESSION OF DP71, A MAJOR PRODUCT OF THE GENE
A HOUSEKEEPING TYPE PROMOTER, LOCATED IN THE 3' REGION OF THE DUCHENNE MUSCULAR-DYSTROPHY GENE, CONTROLS THE EXPRESSION OF DP71, A MAJOR PRODUCT OF THE GENE
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DOI：
10.1093/hmg/2.11.1883
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发表时间：
1993-11-01
影响因子：
3.5
通讯作者：
NUDEL, U
中科院分区：
文献类型：
--
作者：
LEDERFEIN, D;YAFFE, D;NUDEL, U
巨型杜氏肌营养不良 (DMD) 基因远端部分的 70.8 kDa 蛋白质产物 Dp71 在许多细胞类型和组织中表达。使用锚定 PCR、引物延伸和转染构建体的功能分析来确定 mRNA 的 5' 末端并表征该主要 DMD 基因产物的启动子。 Dp71 的 5' 非翻译区 (5'UTR) 由单个外显子转录而来；该启动子不包含 TATA 盒，并且具有非常高的 GC 含量和几个潜在的 Sp1 结合位点。它位于距离肌肉和脑型肌营养不良蛋白启动子 3' 端超过 2000 kb，距离该基因 3' 端仅 150 kb，这表明在大多数 DMD 患者中，Dp71 的表达不受影响。
The 70.8 kDa protein product of the distal part of the giant Duchenne muscular dystrophy (DMD) gene, Dp71, is expressed in many cell types and tissues. Anchored PCR, primer extension and functional analysis of transfected constructs were used to determine the 5' end of the mRNA and characterize the promoter of this major DMD gene product. The 5' untranslated region (5'UTR) of Dp71 is transcribed from a single exon; the promoter does not contain a TATA box, and has a very high GC content and several potential Sp1 binding sites. It is located more than 2000 kb 3' to the muscle and brain type dystrophin promoters and only 150 kb from the 3' end of the gene, suggesting that in most DMD patients the expression of Dp71 is unaffected.