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Am J Hum Genet. 1997 Jun;60(6):1495-501.

Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes.

Author information

1
Murdoch Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

Abstract

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.

PMID:
9199572
PMCID:
PMC1716104
DOI:
10.1086/515453
[Indexed for MEDLINE]
Free PMC Article

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