Human Genetics

, Volume 117, Issue 2, pp 213–219

Evolution versus constitution: differences in chromosomal inversion

Original Investigation

DOI: 10.1007/s00439-005-1294-z

Cite this article as:
Schmidt, S., Claussen, U., Liehr, T. et al. Hum Genet (2005) 117: 213. doi:10.1007/s00439-005-1294-z


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.

Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  1. 1.Institute of Human Genetics and AnthropologyJenaGermany

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