Lookup NU author(s): Dr Joanna Elson
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Mutations of mitochondrial DNA (mtDNA) are frequent in humans and are implicated in many different types of pathology. The high substitution rate and the maternal, asexual mode of transmission of mtDNA make it more likely to accumulate deleterious mutations. Here, we discuss recent evidence that mtDNA transmission is subject to strong purifying selection in the mammalian female germ line, limiting the accumulation of such mutations. This process shapes mitochondrial sequence diversity and is therefore probably of fundamental importance for animal evolution and in human mitochondrial disease. © 2008 Macmillan Publishers Limited. All rights reserved.
Author(s): Stewart JB, Freyer C, Elson JL, Larsson N-G
Publication type: Review
Publication status: Published
Journal: Nature Reviews Genetics
Print publication date: 01/09/2008
ISSN (print): 1471-0056
ISSN (electronic): 1471-0064