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Human Genetics

, Volume 119, Issue 1–2, pp 103–112 | Cite as

Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees

  • Justyna M. Szamalek
  • David N. Cooper
  • Werner Schempp
  • Peter Minich
  • Matthias Kohn
  • Josef Hoegel
  • Violaine Goidts
  • Horst Hameister
  • Hildegard Kehrer-SawatzkiEmail author
Original Investigation

Abstract

A combination of inter- and intra-species genome comparisons is required to identify and classify the full spectrum of genetic changes, both subtle and gross, that have accompanied the evolutionary divergence of humans and other primates. In this study, gene order comparisons of 11,518 human and chimpanzee orthologous gene pairs were performed to detect regions of inverted gene order that are potentially indicative of small-scale rearrangements such as inversions. By these means, a total of 71 potential micro-rearrangements were detected, nine of which were considered to represent micro-inversions encompassing more than three genes. These putative inversions were then investigated by FISH and/or PCR analyses and the authenticity of five of the nine inversions, ranging in size from ~800 kb to ~4.4 Mb, was confirmed. These inversions mapped to 1p13.2–13.3, 7p22.1, 7p13–14.1, 18p11.21–11.22 and 19q13.12 and encompass 50, 14, 16, 7 and 16 known genes, respectively. Intriguingly, four of the confirmed inversions turned out to be polymorphic: three were polymorphic in the chimpanzee and one in humans. It is concluded that micro-inversions make a significant contribution to genomic variability in both humans and chimpanzees and inversion polymorphisms may be more frequent than previously realized.

Keywords

Segmental Duplication Pericentric Inversion Breakpoint Region Chimpanzee Genome Inversion Polymorphism 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgements

We thank Antje Kollak and Helene Spöri for technical assistance. This research was funded by the Deutsche Forschungsgemeinschaft (DFG KE 724/2-1).

Supplementary material

439_2005_117_MOESM1_ESM.pdf (3 mb)
Supplementary material

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Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Justyna M. Szamalek
    • 1
  • David N. Cooper
    • 2
  • Werner Schempp
    • 3
  • Peter Minich
    • 1
  • Matthias Kohn
    • 1
  • Josef Hoegel
    • 1
  • Violaine Goidts
    • 1
  • Horst Hameister
    • 1
  • Hildegard Kehrer-Sawatzki
    • 1
    Email author
  1. 1.Department of Human GeneticsUniversity of UlmUlmGermany
  2. 2.Institute of Medical GeneticsCardiff UniversityCardiffUK
  3. 3.Institute of Human Genetics and AnthropologyUniversity of FreiburgFreiburgGermany

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