Human Molecular Genetics Advance Access originally published online on July 8, 2003
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Human Molecular Genetics, 2003, Vol. 12, No. 17 2201-2208
DOI: 10.1093/hmg/ddg223
© 2003 Oxford University Press
Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements
1Program in Genes and Disease, Center for Genomic Regulation, Barcelona Biomedical Research Park, Barcelona, Catalonia, Spain, 2Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada and 3Life and Health Science Department, Pompeu Fabra University, Barcelona, Catalonia, Spain
Received May 8, 2003; Accepted July 2, 2003
The sequence of the mouse genome allows one to compare the conservation of synteny between the human and mouse genome and exploration of regions that might have been involved in major rearrangements during the evolution of these two species (evolutionary genome rearrangements). Recent segmental duplications (or duplicons) are paralogous DNA sequences with high sequence identity that account for about 3.5–5% of the human genome and have emerged during the past 
35 million years of evolution. These regions are susceptible to illegitimate recombination leading to rearrangements that result in genomic disorders or genomic mutations. A catalogue of several hundred segmental duplications potentially leading to genomic rearrangements has been reported. The authors and others have observed that some chromosome regions involved in genomic disorders are shuffled in orientation and order in the mouse genome and that regions flanked by segmental duplications are often polymorphic. We have compared the human and mouse genome sequences and demonstrate here that recent segmental duplications correlate with breaks of synteny between these two species. We also observed that nine primary regions involved in human genomic disorders show changes in the order or the orientation of mouse/human synteny segments, were often flanked by segmental duplications in the human sequence. We found that 53% of all evolutionary rearrangement breakpoints associate with segmental duplications, as compared with 18% expected in a random location of breaks along the chromosome (P<0.0001). Our data suggest that segmental duplications have participated in the recent evolution of the human genome, as driving forces for evolutionary rearrangements, chromosome structure polymorphisms and genomic disorders.
* To whom correspondence should be addressed at: Program in Genes and Disease, Center for Genomic Regulation (CRG), Barcelona Biomedical Research Park, Passeig Marítim 37-49, 08003 Barcelona, Catalonia, Spain. Tel: +34 932240959; Fax: +34 932240089; Email: xavier.estivill{at}crg.es
Present address: Cancer Biology, Dana-Farber Cancer Institute, Boston 02115, USA.
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