Establishment of a heteroplasmic mouse strain with interspecific mitochondrial DNA haplotypes and improvement of a PCR-RFLP-based measurement system for estimation of mitochondrial DNA heteroplasmy

Ashley MV, Laipis PJ, Hauswirth WW (1989) Rapid segregation of heteroplasmic bovine mitochondria. Nucleic Acids Res 17:7325–7331 Brown WM, Prager EM, Wang A, Wilson AC (1982) Mitochondrial DNA sequences of primates: tempo and mode of evolution. J Mol Evol 18:225–239 Burgstaller JP et al (2014) MtDNA segregation in heteroplasmic tissues is common in vivo and modulated by haplotype differences and developmental stage. Cell Rep 7:2031–2041. doi:10.1016/j.celrep.2014.05.020 Cao L et al (2007) The mitochondrial bottleneck occurs without reduction of mtDNA content in female mouse germ cells. Nat Genet 39:386–390. doi:10.1038/ng1970 Cao L, Shitara H, Sugimoto M, Hayashi J, Abe K, Yonekawa H (2009) New evidence confirms that the mitochondrial bottleneck is generated without reduction of mitochondrial DNA content in early primordial germ cells of mice. PLoS Genet 5:e1000756. doi:10.1371/journal.pgen.1000756 Cree LM et al (2008) A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes. Nat Genet 40:249–254. doi:10.1038/ng.2007.63 Hayashi J, Ohta S, Kikuchi A, Takemitsu M, Goto Y, Nonaka I (1991) Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci USA 88:10614–10618 Inoue K, Nakada K, Ogura A, Isobe K, Goto Y, Nonaka I, Hayashi JI (2000) Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes. Nat Genet 26:176–181. doi:10.1038/82826 Jenuth JP, Peterson AC, Fu K, Shoubridge EA (1996) Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nat Genet 14:146–151. doi:10.1038/ng1096-146 Jenuth JP, Peterson AC, Shoubridge EA (1997) Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice. Nat Genet 16:93–95. doi:10.1038/ng0597-93 Kaneda H, Hayashi J, Takahama S, Taya C, Lindahl KF, Yonekawa H (1995) Elimination of paternal mitochondrial DNA in intraspecific crosses during early mouse embryogenesis. Proc Natl Acad Sci USA 92:4542–4546 Laipis PJ (1996) Construction of heteroplasmic mice containing two mitochondrial DNA genotypes by micromanipulation of single-cell embryos. Methods Enzymol 264:345–357 Larsson NG, Tulinius MH, Holme E, Oldfors A, Andersen O, Wahlstrom J, Aasly J (1992) Segregation and manifestations of the mtDNA tRNA(Lys) A→G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Am J Hum Genet 51:1201–1212 Lee HS et al (2012) Rapid mitochondrial DNA segregation in primate preimplantation embryos precedes somatic and germline bottleneck. Cell Rep 1:506–515. doi:10.1016/j.celrep.2012.03.011 Ma H et al (2016) Incompatibility between nuclear and mitochondrial genomes contributes to an interspecies reproductive barrier. Cell Metab 24:283–294. doi:10.1016/j.cmet.2016.06.012 Meirelles FV, Smith LC (1997) Mitochondrial genotype segregation in a mouse heteroplasmic lineage produced by embryonic karyoplast transplantation. Genetics 145:445–451 Michu E, Mrackova M, Vyskot B, Zluvova J (2010) Reduction of heteroduplex formation in PCR amplification. Biol Plant 54:173–176 Nakada K et al (2001) Inter-mitochondrial complementation: mitochondria-specific system preventing mice from expression of disease phenotypes by mutant mtDNA. Nat Med 7:934–940. doi:10.1038/90976 Poulton J, Bredenoord AL (2010) 174th ENMC international workshop: applying pre-implantation genetic diagnosis to mtDNA diseases: implications of scientific advances 19–21 March 2010, Naarden, The Netherlands. Neuromuscul Disord 20:559–563. doi:10.1016/j.nmd.2010.05.008 Sato A, Kono T, Nakada K, Ishikawa K, Inoue S, Yonekawa H, Hayashi J (2005) Gene therapy for progeny of mito-mice carrying pathogenic mtDNA by nuclear transplantation. Proc Natl Acad Sci USA 102:16765–16770. doi:10.1073/pnas.0506197102 Sharpley MS et al (2012) Heteroplasmy of mouse mtDNA is genetically unstable and results in altered behavior and cognition. Cell 151:333–343. doi:10.1016/j.cell.2012.09.004 Sobenin IA et al (2014) Quantitative assessment of heteroplasmy of mitochondrial genome: perspectives in diagnostics and methodological pitfalls. Biomed Res Int 2014:292017. doi:10.1155/2014/292017 Tachibana M et al (2013) Towards germline gene therapy of inherited mitochondrial diseases. Nature 493:627–631. doi:10.1038/nature11647 Takeda K, Takahashi S, Onishi A, Hanada H, Imai H (2000) Replicative advantage and tissue-specific segregation of RR mitochondrial DNA between C57BL/6 and RR heteroplasmic mice. Genetics 155:777–783 Wai T, Teoli D, Shoubridge EA (2008) The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes. Nat Genet 40:1484–1488. doi:10.1038/ng.258 Wallace DC, Chalkia D (2013) Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease. Cold Spring Harb Perspect Biol 5:a021220. doi:10.1101/cshperspect.a021220 Yoneda M, Tanno Y, Tsuji S, Attardi G (1996) Detection and quantification of point mutations in mitochondrial DNA by PCR. Methods Enzymol 264:432–441