@article{2518a4afdba14187b9f4abd741615b00,
title = "Rapid Mitochondrial DNA Segregation in Primate Preimplantation Embryos Precedes Somatic and Germline Bottleneck",
abstract = "The timing and mechanisms of mitochondrial DNA (mtDNA) segregation and transmission in mammals are poorly understood. Genetic bottleneck in female germ cells has been proposed as the main phenomenon responsible for rapid intergenerational segregation of heteroplasmic mtDNA. We demonstrate here that mtDNA segregation occurs during primate preimplantation embryogenesis resulting in partitioning of mtDNA variants between daughter blastomeres. A substantial shift toward homoplasmy occurred in fetuses and embryonic stem cells (ESCs) derived from these heteroplasmic embryos. We also observed a wide range of heteroplasmic mtDNA variants distributed in individual oocytes recovered from these fetuses. Thus, we present here evidence for a previously unknown mtDNA segregation and bottleneck during preimplantation embryo development, suggesting that return to the homoplasmic condition can occur during development of an individual organism from the zygote to birth, without a passage through the germline.",
author = "Lee, {Hyo Sang} and Hong Ma and Juanes, {Rita Cervera} and Masahito Tachibana and Michelle Sparman and Joy Woodward and Cathy Ramsey and Jing Xu and Kang, {Eun Ju} and Paula Amato and Georg Mair and Ralf Steinborn and Shoukhrat Mitalipov",
note = "Funding Information: The authors acknowledge the Division of Animal Resources, Surgical Team, Assisted Reproductive Technologies & Embryonic Stem Cell, Endocrine Technology, and Molecular & Cellular Biology Cores at the Oregon National Primate Research Center for providing expertise and services that contributed to this project. We are grateful to Keith Masterson, Maidina Tuohetahuntila, Erin Wolff, Rebecca Tippner-Hedges, Ying Li, Monica Fraenkel, and Dario Melguizo Sanchis for their technical support and Jinhee Kim for help with illustrative materials. We are indebted to Dr. Richard Stouffer for consulting, helpful discussions and critical reading of the manuscript. This study was supported by funds from Oregon National Primate Research Center, the Center for Women's Health Circle of Giving and grants from the National Institutes of Health HD057121, HD059946, HD063276, HD047675, EY021214, HD018185, and RR000163. ",
year = "2012",
month = may,
day = "31",
doi = "10.1016/j.celrep.2012.03.011",
language = "English (US)",
volume = "1",
pages = "506--515",
journal = "Cell Reports",
issn = "2211-1247",
publisher = "Cell Press",
number = "5",
}