Genomewide comparison of DNA sequences between humans and chimpanzees - PubMed (original) (raw)

Comparative Study

doi: 10.1086/340787. Epub 2002 Apr 30.

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Comparative Study

Genomewide comparison of DNA sequences between humans and chimpanzees

Ingo Ebersberger et al. Am J Hum Genet. 2002 Jun.

Abstract

A total of 8,859 DNA sequences encompassing approximately 1.9 million base pairs of the chimpanzee genome were sequenced and compared to corresponding human DNA sequences. Although the average sequence difference is low (1.24%), the extent of changes is markedly different among sites and types of substitutions. Whereas approximately 15% of all CpG sites have experienced changes between humans and chimpanzees, owing to a 23-fold excess of transitions and a 7-fold excess of transversions, substitutions at other sites vary in frequency, between 0.1% and 0.5%. If the nucleotide diversity in the common ancestral species of humans and chimpanzees is assumed to have been about fourfold higher than in contemporary humans, all possible comparisons between autosomes and X and Y chromosomes result in estimates of the ratio between male and female mutation rates of approximately 3. Thus, the relative time spent in the male and female germlines may be a major determinant of the overall accumulation of nucleotide substitutions. However, since the extent of divergence differs significantly among autosomes, additional unknown factors must also influence the accumulation of substitutions in the human genome.

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Figures

Figure 1

Figure 1

Histogram showing the number of DNA sequence positions compared per human chromosome

Figure 2

Figure 2

Mean DNA sequence differences between humans and chimpanzees by human chromosome. Bars indicate 95% CIs.

Figure 3

Figure 3

Frequency distribution of DNA sequence differences between chimpanzees and humans, for each human chromosome. Ti = transitions.

Figure 4

Figure 4

Genomewide average frequencies for various nucleotide differences between chimpanzees and humans (A) and among humans (B). Ti = transitions.

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References

Electronic-Database Information

    1. dbSNP Home Page, http://www.ncbi.nlm.nih.gov/SNP/
    1. Genome Software Development Page, http://www.phrap.org/
    1. Human Genome Working Draft, http://genome.ucsc.edu/
    1. Repeat Masker Server Home Page, http://repeatmasker.genome.washington.edu/
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