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Genomewide comparison of DNA sequences between humans and chimpanzees

We sequenced a total of 8,859 DNA molecules encompassing approximately 1.9 million base pairs of the chipanzee genome, and compared them to their homologous human DNA sequences, comparing the differences between sites and types of substitutions.

Jun 01, 2002

Authors: I. Ebersberger, D. Metzler , C. Schwarz, S. Pääbo

American Journal of Human Genetics, Vol. 70, Issue 6, June 2002, pp.1490-1497. DOI: https://doi.org/10.1086/340787

A total of 8,859 DNA sequences encompassing ~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 ~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 ~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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