Mitochondrial gene segregation in mammals: is the bottleneck always narrow?

Hum Genet. Sep-Oct 1992;90(1-2):117-20. doi: 10.1007/BF00210753.


The segregation of a heteroplasmic silent polymorphism in the mitochondrial ND6 gene has been followed in a human maternal lineage comprising eight individuals and spanning three generations. Heteroplasmy persisted in all eight maternally related family members. More importantly, the frequencies of the two alleles showed relatively little variation among individuals or between generations. In contrast to the findings in other mammalian lineages, the present results indicate relatively slow mitochondrial gene segregation. A narrow bottleneck in the number of mitochondrial DNA (mtDNA) molecules, which occurs at some stage of oogenesis, has been advanced to explain rapid mammalian mitochondrial gene segregation. It is suggested here that the segregation of mitochondrial genes may be more complex than initially envisaged, and that models need to be developed that account for both rapid and slow segregation. One possibility, which reconciles both physical and genetic studies of mammalian mtDNA, is that the unit of mitochondrial segregation is the organelle itself, each containing multiple mtDNA molecules.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Base Sequence
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Male
  • Mathematics
  • Molecular Sequence Data
  • Oligonucleotide Probes / genetics
  • Optic Atrophies, Hereditary / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Genetic / genetics*


  • DNA, Mitochondrial
  • Oligonucleotide Probes