Rearranged mitochondrial genomes are present in human oocytes

Journal Article · Tue Aug 01 04:00:00 EDT 1995 · American Journal of Human Genetics

OSTI ID:105234

Xi, Chen; Prosser, R; Simonetti, S ^[1]

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1. Columbia Univ., New York, NY (United States); and others

Using quantitative PCR, we have determined that a human oocyte contains {approximately}100,000 mitochondrial genomes (mtDNAs). We have also found that some oocytes harbor measurable levels (up to 0.1%) of the so-called common deletion, an mtDNA molecule containing a 4,977-bp rearrangement that is present in high amounts in many patients with {open_quotes}sporadic{close_quotes} Kearns-Sayre syndrome (KSS) and progressive external ophthalmoplegia (PEO). This is the first demonstration that rearranged mtDNAs are present in human oocytes, and it provides experimental support for the supposition that pathogenic deletions associated with the ontogeny of sporadic KSS and PEO can be transmitted in the female germ line, from mother to child. The relevance of these findings to the accumulation of extremely low levels of deleted mtDNAs in both somatic and germ-line tissues during normal human aging is also discussed. 42 refs., 6 figs., 1 tab.

• OSTI ID: 105234
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 2 Vol. 57; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AGE DEPENDENCE
DNA
FEMALES
GENETICS
GENOME MUTATIONS
HUMAN POPULATIONS
LIFE SPAN
MITOCHONDRIA
ONTOGENESIS
OOCYTES
POLYMERASE CHAIN REACTION
SIZE