Nonneutral Mitochondrial DNA Variation in Humans and Chimpanzees

Author:

Nachman Michael W1,Brown Wesley M2,Stoneking Mark3,Aquadro Charles F1

Affiliation:

1. Section of Genetics and Development, Cornell University, Ithaca, New York 14853

2. Department of Biology, University of Michigan, Ann Arbor, Michigan 48109

3. Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania 16802

Abstract

Abstract We sequenced the NADH dehydrogenase subunit 3 (ND3) gene from a sample of 61 humans, five common chimpanzees, and one gorilla to test whether patterns of mitochondrial DNA (mtDNA) variation are consistent with a neutral model of molecular evolution. Within humans and within chimpanzees, the ratio of replacement to silent nucleotide substitutions was higher than observed in comparisons between species, contrary to neutral expectations. To test the generality of this result, we reanalyzed published human RFLP data from the entire mitochondrial genome. Gains of restriction sites relative to a known human mtDNA sequence were used to infer unambiguous nucleotide substitutions. We also compared the complete mtDNA sequences of three humans. Both the RFLP data and the sequence data reveal a higher ratio of replacement to silent nucleotide substitutions within humans than is seen between species. This pattern is observed at most or all human mitochondrial genes and is inconsistent with a strictly neutral model. These data suggest that many mitochondrial protein polymorphisms are slightly deleterious, consistent with studies of human mitochondrial diseases.

Publisher

Oxford University Press (OUP)

Subject

Genetics

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