TAILIEUCHUNG - Hotspots of mammalian chromosomal evolution

Jeffrey A Bailey*, Robert Baertsch†, W James Kent†, David Haussler‡ and Evan E Eichler* Addresses: *Department of Genetics, Center for Computational Genomics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, OH 44106, USA. †Center for Biomolecular Science and Engineering, University of California, Santa Cruz, CA 95064, USA. ‡Howard Hughes Medical Institute, 321 Baskin Engineering, University of California, Santa Cruz, CA 95064, USA. Correspondence: Evan E Eichler. E-mail: eee@ Hotspots of mammalian chromosomal evolution reviews Published: 8 March 2004 Genome Biology 2004, 5:R23 The electronic version of this article is the complete one and can be found online at Received:. | Research Open Access Hotspots of mammalian chromosomal evolution Jeffrey A Bailey Robert Baertsch W James Kent David Haussler and Evan E Eichler Addresses Department of Genetics Center for Computational Genomics Case Western Reserve University School of Medicine and University Hospitals of Cleveland Cleveland OH 44106 USA. ỶCenter for Biomolecular Science and Engineering University of California Santa Cruz CA 95064 USA. Howard Hughes Medical Institute 321 Baskin Engineering University of California Santa Cruz CA 95064 USA. Correspondence Evan E Eichler. E-mail eee@ Published 8 March 2004 Genome Biology 2004 5 R23 The electronic version of this article is the complete one and can be found online at http 2004 5M R23 Received 24 September 2003 Revised 20 February 2004 Accepted 23 February 2004 2004 Bailey et al. licensee BioMed Central Ltd. This is an Open Access article verbatim copying and redistribution of this article are permitted in all media for any purpose provided this notice is preserved along with the article s original URL. Abstract Background Chromosomal evolution is thought to occur through a random process of breakage and rearrangement that leads to karyotype differences and disruption of gene order. With the availability of both the human and mouse genomic sequences detailed analysis of the sequence properties underlying these breakpoints is now possible. Results We report an abundance of primate-specific segmental duplications at the breakpoints of syntenic blocks in the human genome. Using conservative criteria we find that 25 122 461 of all breakpoints contain 10 kb of duplicated sequence. This association is highly significant p when compared to a simulated random-breakage model. The significance is robust under a variety of parameters multiple sets of conserved synteny data and for orthologous breakpoints between and within chromosomes. A comparison of mouse lineage-specific breakpoints since the divergence of rat

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