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Title: Nonneutral mitochondrial DNA variation in humans and chimpanzees

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. 59 refs., 2 figs., 8 tabs.

Authors:
;  [1];  [2]
  1. Cornell Univ., Ithaca, NY (United States)
  2. Univ. of Michigan, Ann Arbor, MI (United States); and others
Publication Date:
OSTI Identifier:
539433
Resource Type:
Journal Article
Journal Name:
Genetics
Additional Journal Information:
Journal Volume: 142; Journal Issue: 3; Other Information: PBD: Mar 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; DNA; GENETIC VARIABILITY; HUMAN POPULATIONS; HEREDITARY DISEASES; BIOLOGICAL EVOLUTION; GENOME MUTATIONS; MITOCHONDRIA; DNA SEQUENCING; APES; OXIDOREDUCTASES; GENES; NUCLEOTIDES; RFLPS; POLYMERASE CHAIN REACTION

Citation Formats

Nachman, M W, Aquadro, C F, and Brown, W M. Nonneutral mitochondrial DNA variation in humans and chimpanzees. United States: N. p., 1996. Web.
Nachman, M W, Aquadro, C F, & Brown, W M. Nonneutral mitochondrial DNA variation in humans and chimpanzees. United States.
Nachman, M W, Aquadro, C F, and Brown, W M. 1996. "Nonneutral mitochondrial DNA variation in humans and chimpanzees". United States.
@article{osti_539433,
title = {Nonneutral mitochondrial DNA variation in humans and chimpanzees},
author = {Nachman, M W and Aquadro, C F and Brown, W M},
abstractNote = {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. 59 refs., 2 figs., 8 tabs.},
doi = {},
url = {https://www.osti.gov/biblio/539433}, journal = {Genetics},
number = 3,
volume = 142,
place = {United States},
year = {Fri Mar 01 00:00:00 EST 1996},
month = {Fri Mar 01 00:00:00 EST 1996}
}