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Comparative sequence analysis of a single-gene conserved segment in mouse and human

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Abstract

Comparative mapping and sequencing of the mouse and human genomes have defined large, conserved chromosomal segments in which gene content and order are highly conserved. These regions span megabase-sized intervals and together comprise the vast majority of both genomes. However, the evolutionary relationships among the small remaining portions of these genomes are not as well characterized. Here we describe the sequencing and annotation of a 341-kb region of mouse Chr 2 containing nine genes, including biliverdin reductase A (Blvra), and its comparison with the orthologous regions of the human and rat genomes. These analyses reveal that the known conserved synteny between mouse Chromosome (Chr) 2 and human Chr 7 reflects an interval containing one gene (Blvra/BLVRA) that is, at most, just 34 kb in the mouse genome. In the mouse, this segment is flanked proximally by genes orthologous to human chromosome 15q21 and distally by genes orthologous to human Chr 2q11. The observed differences between the human and mouse genomes likely resulted from one or more rearrangements in the rodent lineage. In addition to the resulting changes in gene order and location, these rearrangements also appear to have included genomic deletions that led to the loss of at least one gene in the rodent lineage. Finally, we also have identified a recent mouse-specific segmental duplication. These finding illustrate that small genomic regions outside the large mouse–human conserved segments can contain a single gene as well as sequences that are apparently unique to one genome.

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Acknowledgements

The authors acknowledge the contributions of Jeff Touchman and Pamela Thomas as members of the NISC Comparative Sequencing Program for finishing the sequence of the reported BACs, and Mary Schueler for critical review of the manu- script.

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  1. Department of Human Genetics, Emory University School of Medicine, 615 Michael St, Suite 301 Atlanta, Georgia 30322, USA

    James W. Thomas

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  1. James W. Thomas
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Correspondence to James W. Thomas.

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Thomas, J.W., NISC Comparative Sequencing Program. & NISC Comparative Sequencing Program. Comparative sequence analysis of a single-gene conserved segment in mouse and human . Mamm Genome 14, 673–678 (2003). https://doi.org/10.1007/s00335-003-2300-1

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  • DOI: https://doi.org/10.1007/s00335-003-2300-1

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