Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA

Mitochondrial DNA (mtDNA) is maternally inherited in mammals. Despite the high genome copy number in mature oocytes (10 5 ) and the relatively small number of cell divisions in the female germline, mtDNA sequence variants segregate rapidly between generations. To investigate the molecular basis for...

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Veröffentlicht in:Nature genetics 1996-10, Vol.14 (2), p.146-151
Hauptverfasser: Jenuth, Jack P., Peterson, Alan C., Fu, Katherine, Shoubridge, Eric A.
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container_title Nature genetics
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creator Jenuth, Jack P.
Peterson, Alan C.
Fu, Katherine
Shoubridge, Eric A.
description Mitochondrial DNA (mtDNA) is maternally inherited in mammals. Despite the high genome copy number in mature oocytes (10 5 ) and the relatively small number of cell divisions in the female germline, mtDNA sequence variants segregate rapidly between generations. To investigate the molecular basis for this apparent paradox we created lines of heteroplasmic mice carrying two mtDNA genotypes. We show that the pattern of segregation can be explained by random genetic drift ocurring in early oogenesis, and that the effective number of segregating units for mtDNA is ∼200 in mice. These results provide the basis for estimating recurrence risks for mitochondrial disease due to pathogenic mtDNA mutations and for predicting the rate of fixation of neutral mtDNA mutations in maternal lineages.
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source MEDLINE; Nature Journals Online; SpringerLink Journals - AutoHoldings
subjects Agriculture
Animal Genetics and Genomics
Animals
Biological and medical sciences
Biomedical and Life Sciences
Biomedicine
Cancer Research
Classical genetics, quantitative genetics, hybrids
DNA, Mitochondrial - genetics
Female
Founder Effect
Fundamental and applied biological sciences. Psychology
Gene Dosage
Gene Frequency
Gene Function
Genetics of eukaryotes. Biological and molecular evolution
Genotype
Human Genetics
Mice
Mice, Inbred BALB C
Mice, Inbred NZB
Oocytes
Oogenesis - genetics
Oogonia
Vertebrata
title Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA
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