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在果蝇线粒体DNA编码区存在大规模缺失的稳定异质性。

Stable heteroplasmy for a large-scale deletion in the coding region of Drosophila subobscura mitochondrial DNA.

作者信息

Volz-Lingenhöhl A, Solignac M, Sperlich D

机构信息

Populationsgenetik, Universität Tübingen, Germany.

出版信息

Proc Natl Acad Sci U S A. 1992 Dec 1;89(23):11528-32. doi: 10.1073/pnas.89.23.11528.

Abstract

Due to the extremely economic organization of the animal mitochondrial genome, large-scale deletions are rarely found in animal mtDNA. We report the occurrence of a massive deletion in the coding region of mtDNA in Drosophila subobscura. Restriction mapping and nucleotide sequence analysis revealed that the deletion encompasses six protein genes and four tRNAs. All individuals of an isofemale strain proved to be heteroplasmic for normal and deficient mtDNA molecules. This type of heteroplasmy resembles one observed in patients with mitochondrial myopathies but differs in that the fitness of heteroplasmic flies is not significantly reduced even though the mutant mtDNA constitutes 50-80% of total mtDNA in most of the individuals studied. The heteroplasmic strain is genetically stable: despite extensive screening not a single homoplasmic fly was observed since the foundation of the line.

摘要

由于动物线粒体基因组的极端经济组织形式,在动物线粒体DNA中很少发现大规模缺失。我们报告了在暗果蝇线粒体DNA编码区发生的一次大规模缺失。限制性图谱分析和核苷酸序列分析表明,该缺失包含六个蛋白质基因和四个tRNA。一个同雌系的所有个体被证明对于正常和缺陷型线粒体DNA分子是异质的。这种异质性类似于在线粒体肌病患者中观察到的情况,但不同之处在于,尽管在大多数研究个体中突变型线粒体DNA占总线粒体DNA的50 - 80%,异质果蝇的适应性并没有显著降低。该异质品系在遗传上是稳定的:自品系建立以来,尽管进行了广泛筛选,但未观察到一只同质果蝇。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c76/50585/aec8f27a23de/pnas01097-0432-a.jpg

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