Extensive genomic duplication during early chordate evolution

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Abstract
Opinions on the hypothesis1 that ancient genome duplications contributed to the vertebrate genome range from strong skepticism2,3,4 to strong credence5,6,7. Previous studies concentrated on small numbers of gene families or chromosomal regions that might not have been representative of the whole genome4,5, or used subjective methods to identify paralogous genes and regions5,8. Here we report a systematic and objective analysis of the draft human genome sequence to identify paralogous chromosomal regions (paralogons) formed during chordate evolution and to estimate the ages of duplicate genes. We found that the human genome contains many more paralogons than would be expected by chance. Molecular clock analysis of all protein families in humans that have orthologs in the fly and nematode indicated that a burst of gene duplication activity took place in the period 350–650 Myr ago and that many of the duplicate genes formed at this time are located within paralogons. Our results support the contention that many of the gene families in vertebrates were formed or expanded by large-scale DNA duplications in an early chordate. Considering the incompleteness of the sequence data and the antiquity of the event, the results are compatible with at least one round of polyploidy.