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Mar 1, 2009 (Vol. 29, No. 5)

Shining a Different Light on Genetic Diversity

Copy Number Variations Are Poised to Rival Single Nucleotide Polymorphisms in Importance for Clinical Applications

  • Mapping

    Jan Korbel, Ph.D., group leader at EMBL Heidelberg, will talk about recent progress his group has made in using  high-resolution and massive paired-end mapping, in which 3 kb fragments of paired ends are prepared and sequenced with next-generation approaches, to generate high-resolution copy number variation maps.

    These maps are highly informative of the potential functional impact of genomic variations, and they can provide insights into the recent history of how copy number variations evolved in various genomes.

    Research into genetic variation with effects on olfactory physiology is just one of the research interests in the Korbel lab, partly as a collaboration with Doron Lancet, Ph.D., from the Weizmann Institute of Science. “The numbers and types of olfactory receptor genes seem to be much more different between individuals than people previously thought,” reveals Dr. Korbel.

    His work identified a large number of olfactory receptor gene deletions in some individuals, with some parts consistently missing. Another interesting finding, that olfactory receptor genes sometimes fuse to generate a new gene, represents an interesting phenomenon from an evolutionary perspective. “It is becoming obvious now that copy number variation is just a normal process that leads to variation between individuals, but on a larger evolutionary timescale, it can lead to novel gene functions,” says Dr. Korbel.

    The science of human copy number variations, while still in its infancy, has already demonstrated its profound impact on our ability to understand physiological processes, disease pathogenesis, and evolutionary concepts. When thinking about copy number variations, it is perhaps most relevant to remember microbial organisms, which, through their relative simplicity and amenability for investigation, provided so many of the key scientific concepts.

    For many microbial species, variations in tandem repeat copy numbers represent an important aspect of their existence, as they shape virulence and contribute to antigenic variation and to the ability to escape immune surveillance.

    In all likelihood, copy number variations hold the answers to some of the most fascinating questions in life sciences, and their importance across species is reminiscent of Aristotle’s words, dating back two millennia yet so very relevant today: “In all things of nature there is something of the marvelous.”

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