Garner I, Minty A J, Alonso S, Barton P J, Buckingham M E
EMBO J. 1986 Oct;5(10):2559-67. doi: 10.1002/j.1460-2075.1986.tb04535.x.
We describe the structure and transcriptional activity of the 5' portion of the alpha-cardiac actin gene of BALB/c mice. Southern blotting and DNA sequencing reveal that the promoter and first three exons of the gene are present as perfect repeats in a direct duplication of 9.5 kbp situated immediately upstream of the gene. Both promoters are active in adult cardiac tissue. Transcripts from the partial gene duplication give rise to novel RNAs that are spliced correctly in the actin region and polyadenylated. The level of mature alpha-cardiac actin mRNA is only 16.5% that found in mice that do not possess the duplication. This is due, at least in part, to interference at the transcriptional level. Transcripts from the alpha-skeletal actin gene accumulate to abnormally high levels in the hearts of such mutant mice. This result suggests tight regulatory coupling for this actin gene pair.
我们描述了BALB/c小鼠α-心肌肌动蛋白基因5'端的结构和转录活性。Southern印迹法和DNA测序显示，该基因的启动子和前三个外显子以完美重复的形式存在于该基因上游紧邻的一个9.5kbp的正向重复序列中。两个启动子在成年心脏组织中均有活性。部分基因重复产生的转录本可产生新的RNA，这些RNA在肌动蛋白区域可正确剪接并进行多聚腺苷酸化。成熟的α-心肌肌动蛋白mRNA水平仅为未发生重复的小鼠中的16.5%。这至少部分是由于转录水平的干扰所致。在这种突变小鼠的心脏中，α-骨骼肌肌动蛋白基因的转录本积累到异常高水平。这一结果表明这对肌动蛋白基因存在紧密的调控偶联。
