Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA.

@article{RebolledoJaramillo2014MaternalAE,
  title={Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA.},
  author={Boris Rebolledo-Jaramillo and Marcia Shu-Wei Su and Nicholas Stoler and Jennifer A McElhoe and Benjamin Dickins and Daniel Blankenberg and Thorfinn Sand Korneliussen and Francesca Chiaromonte and Rasmus Nielsen and Mitchell M. Holland and Ian M Paul and Anton Nekrutenko and Kateryna D. Makova},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2014},
  volume={111 43},
  pages={15474-9}
}
The manifestation of mitochondrial DNA (mtDNA) diseases depends on the frequency of heteroplasmy (the presence of several alleles in an individual), yet its transmission across generations cannot be readily predicted owing to a lack of data on the size of the mtDNA bottleneck during oogenesis. For deleterious heteroplasmies, a severe bottleneck may abruptly transform a benign (low) frequency in a mother into a disease-causing (high) frequency in her child. Here we present a high-resolution… CONTINUE READING