International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


POSTER 155 - DUPLICATIONS, SYNTENY BLOCKS AND BREAKPOINTS FOR HUMAN, MOUSE AND RAT GENOMES: IMPLICATIONS IN GENOME EVOLUTION AND HUMAN DISEASE DEVELOPMENT

Zhao S
TIGR BAC Ends Team The Institute for Genomic Research (TIGR)

Co-Authors: Shetty J., Shattsman S
Institutions: TIGR BAC Ends Team The Institute for Genomic Research (TIGR)

Using paired BAC end sequence (BES) matches, we have mapped ~200,000 human, mouse and rat BACs to the genome of each of the three species. Over 99% of the clones were placed to unique positions on each genome forming contigs up to 50Mb, covering >90% of the genome with >6X coverage and a few small gaps. Over 95% of the genes have their exons and additional 50kb upstream and downstream regions covered in a single BAC or BAC contigs, providing an important resource for gene functional studies.

Genome duplications create difficulties in assembly and are often involved in evolution and diseases. With the <1% of the BACs that were mapped to multiple places on the genomes, we have found that ~5% of the human genome, ~7% of the rat genome, and <1% of the mouse genome were involved in intra-chromosomal or inter-chromosomal duplications. Most of these regions were repeats-rich but some also encoded genes. We are analyzing these genes and repeats to understand their roles in duplication origination, evolution and disease development.

Genome rearrangements improve our genomes in some cases but cause diseases in others. It is therefore important to identify the rearrangements among human, mouse and rat. With the mapped clones, we have built high-resolution BAC synteny and breakpoint maps for large-scale conservation/variation identifications for the three species. We are correlating the breakpoints with cancer fragile sites and searching their sequences for genes, mutations and other elements that may be significant in speciation or disease development.


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