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Evolution versus constitution: differences in chromosomal inversion

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Abstract

We compared the chromosomal breakpoints of evolutionary conserved and constitutional inversions. Multicolor banding and human-specific bacterial artificial chromosomes were applied to map the breakpoints of constitutional pericentric inversions on human chromosomes 2 and 9. For the first time, we present a high-resolution analysis of the breakpoint regions, which are characterized by gene destitution, co-localization with fragile sites, multitude repeats as well as pseudogenes and, remarkably, a large sequence homology to the opposite breakpoint. In contrast, evolutionary inversion breakpoints lack such extensive cross-hybridizing regions and are often associated with fragile sites of the genome and low-copy repeats. These molecular characteristics gave evidence for different types of inversion formation and indicate that evolutionary inversions cannot originate from constitutional inversions like those of chromosomes 2 and 9. Finally, the constitutional inversion breakpoints were investigated on three different great ape species and on four test persons each bearing the same cytogenetically determined inversion on chromosomes 2 and 9, respectively. Our data indicate the existence of different molecular breakpoints for the two variant chromosomes.

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Acknowledgements

This work was supported by INTAS (2143) and Dr. Robert Pfleger Stiftung.

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  1. Institute of Human Genetics and Anthropology, 07740, Jena, Germany

    S. Schmidt, U. Claussen, T. Liehr & A. Weise

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  1. S. Schmidt
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  2. U. Claussen
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  3. T. Liehr
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  4. A. Weise
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Correspondence to A. Weise.

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Schmidt, S., Claussen, U., Liehr, T. et al. Evolution versus constitution: differences in chromosomal inversion. Hum Genet 117, 213–219 (2005). https://doi.org/10.1007/s00439-005-1294-z

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