Skewed Segregation of the MtDNA Nt 8993 (T-->G) Mutation in Human Oocytes

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1997 Jun 1

PMID 9199572

Citations 44

Authors

R B Blok

D A Gook

D R Thorburn

H H Dahl

Affiliations

Soon will be listed here.

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.

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