Human Genetics

, Volume 115, Issue 2, pp 116–122

Segmental duplication associated with the human-specific inversion of chromosome 18: a further example of the impact of segmental duplications on karyotype and genome evolution in primates


  • Violaine Goidts
    • Department of Human GeneticsUniversity of Ulm
  • Justyna M. Szamalek
    • Department of Human GeneticsUniversity of Ulm
  • Horst Hameister
    • Department of Human GeneticsUniversity of Ulm
    • Department of Human GeneticsUniversity of Ulm
Original Investigation

DOI: 10.1007/s00439-004-1120-z

Cite this article as:
Goidts, V., Szamalek, J.M., Hameister, H. et al. Hum Genet (2004) 115: 116. doi:10.1007/s00439-004-1120-z


The human-specific pericentric inversion of chromosome 18 was analysed using breakpoint-spanning BACs from the chimpanzee and human genome. Sequence and FISH analyses disclosed that the breakpoints map to an inverted segmental duplication of 19-kb, which most likely mediated the inversion by intrachromosomal homologous recombination. The 19-kb duplication encompasses the 3′ end of the ROCK1 gene and occurred in the human lineage. Only one copy of this segment is found in the chimpanzee. Due to the inversion, the genomic context of the ROCK1 and USP14 genes is altered. ROCK1 flanks USP14 in the long arm of the chimpanzee chromosome 17, which is homologous to human chromosome 18. This order is interrupted by the inversion in humans. ROCK1 is localized close to the pericentromeric region in 18q11 and USP14 is inverted to distal 18p11.3 in direct neighbourhood to LSAU-satellites, β-satellites and telomere-associated repeats. Our findings essentially confirm the analysis of Dennehey et al. (2004). Intriguingly, USP14 is differentially expressed in human and chimpanzee cortex as well as fibroblast cell lines determined previously by the analysis of oligonucleotide arrays. Either position effects mediated by the proximity to the telomeric region or nucleotide divergence in regulatory regions might account for the differential expression of USP14. The assignment of the breakpoint region to a segmental duplication underlines the significance of the genomic architecture in the context of genome and karyotype evolution in hominoids.

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© Springer-Verlag 2004