Skewed segregation of the mtDNA nt 8993 (T->G) mutation in human oocytes
Skewed segregation of the mtDNA nt 8993 (T->G) mutation in human oocytes
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DOI：
10.1086/515453
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发表时间：
1997-06-01
影响因子：
9.8
通讯作者：
Dahl, HHM
中科院分区：
文献类型：
--
作者：
Blok, RB;Gook, DA;Dahl, HHM
线粒体DNA变异在世代之间的快速变化导致了瓶颈理论，该理论提出了卵子发生早期线粒体DNA数量的急剧减少。我们研究了一位mtDNA nt 8993（T->G）突变异质性表达妇女的卵母细胞.在分析的七个卵母细胞中，一个没有显示出突变的证据，其余六个具有> 95%的突变负荷。这种卵母细胞中突变的偏斜表达与传统的瓶颈理论不相容。一个可能的解释是，在发育中的卵母细胞中mtDNA扩增的过程中，来自一个线粒体的mtDNA被优先扩增。因此，随后的成熟卵母细胞可能主要含有野生型或突变型线粒体基因组。
Rapid changes in mtDNA variants between generations have led to the bottleneck theory, which proposes a dramatic reduction in mtDNA numbers during early oogenesis. We studied oocytes from a woman with heteroplasmic expression of the mtDNA nt 8993 (T-->G) mutation. Of seven oocytes analyzed, one showed no evidence of the mutation, and the remaining six had a mutant load >95%. This skewed expression of the mutation in oocytes is not compatible with the conventional bottleneck theory. A possible explanation is that, during amplification of mtDNA in the developing oocyte, mtDNA from one mitochondrion is preferentially amplified. Thus, subsequent mature oocytes may contain predominantly wild-type or mutant mitochondrial genomes.