Functional and structural features of a tandem duplication of the human mtDNA promoter region
Functional and structural features of a tandem duplication of the human mtDNA promoter region
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DOI：
10.1086/515474
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发表时间：
1997-06-01
影响因子：
9.8
通讯作者：
Moraes, CT
中科院分区：
文献类型：
--
作者：
Hao, HL;Manfredi, G;Moraes, CT
一个类似的260 bp串联重复的人类线粒体DNA调控区已被确定在线粒体疾病患者和一个特定的高加索人单倍型。这种mtDNA复制的功能意义很难评估，因为它在人体组织中的水平很低。我们已经分离出几个transmitochondrial cybrid线窝藏这种突变，其中之一（克隆CA17.1）基本上是同质的重复。在克隆CA17.1中，氧化磷酸化功能没有受损，表明这种mtDNA改变不是致病性的。mtDNA拷贝数和重链和轻链转录物的稳态水平在克隆CA 17.1中没有改变。由两种启动子（重链或轻链）产生的RNA的稳态水平也相似，表明相反取向的启动子不会相互干扰。
An similar to 260-bp tandem duplication of the human mtDNA regulatory region has been identified in patients with mitochondrial disorders and in a specific Caucasian haplogroup. The functional significance of this mtDNA duplication was difficult to assess, because it was present at very low levels in human tissues. We have isolated several transmitochondrial cybrid lines harboring this mutation, one of which (clone CA17.1) was essentially homoplasmic for the duplication. Oxidative-phosphorylation function was not impaired in clone CA17.1, suggesting that this mtDNA alteration is not pathogenic. mtDNA copy number and steady-state levels of heavy-and light-strand transcripts were unaltered in clone CA 17.1. The steady-state levels of RNAs made from the two promoters (either from the heavy-strand or from the light-strand) were also similar, indicating that oppositely oriented promoters did not interfere with each other.