Human Genetics

, Volume 120, Issue 6, pp 759–778 | Cite as

Structural divergence between the human and chimpanzee genomes

  • Hildegard Kehrer-SawatzkiEmail author
  • David N. Cooper


The structural microheterogeneity evident between the human and chimpanzee genomes is quite considerable and includes inversions and duplications as well as deletions, ranging in size from a few base-pairs up to several megabases (Mb). Insertions and deletions have together given rise to at least 150 Mb of genomic DNA sequence that is either present or absent in humans as compared to chimpanzees. Such regions often contain paralogous sequences and members of multigene families thereby ensuring that the human and chimpanzee genomes differ by a significant fraction of their gene content. There is as yet no evidence to suggest that the large chromosomal rearrangements which serve to distinguish the human and chimpanzee karyotypes have influenced either speciation or the evolution of lineage-specific traits. However, the myriad submicroscopic rearrangements in both genomes, particularly those involving copy number variation, are unlikely to represent exclusively neutral changes and hence promise to facilitate the identification of genes that have been important for human-specific evolution.


Segmental Duplication Copy Number Gain Pericentric Inversion Subtelomeric Region Breakpoint Region 
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.



We are most grateful to JP Demuth and MW Hahn for their personal communication of as yet unpublished data. We would also like to thank Violaine Goidts, Justyna Szamalek, Catharina Sandig, Werner Schempp, Stefan Müller, Matthias Platzer and Horst Hameister for their many and varied contributions to the ongoing programme of work in Ulm.

Supplementary material


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Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  1. 1.Department of Human GeneticsUniversity of UlmUlmGermany
  2. 2.Institute of Medical GeneticsCardiff UniversityCardiffUK

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