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Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes

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Abstract

The human and chimpanzee genomes are distinguishable in terms of ten gross karyotypic differences including nine pericentric inversions and a chromosomal fusion. Seven of these large pericentric inversions are chimpanzee-specific whereas two of them, involving human chromosomes 1 and 18, were fixed in the human lineage after the divergence of humans and chimpanzees. We have performed detailed molecular and computational characterization of the breakpoint regions of the human-specific inversion of chromosome 1. FISH analysis and sequence comparisons together revealed that the pericentromeric region of HSA 1 contains numerous segmental duplications that display a high degree of sequence similarity between both chromosomal arms. Detailed analysis of these regions has allowed us to refine the p-arm breakpoint region to a 154.2 kb interval at 1p11.2 and the q-arm breakpoint region to a 562.6 kb interval at 1q21.1. Both breakpoint regions contain human-specific segmental duplications arranged in inverted orientation. We therefore propose that the pericentric inversion of HSA 1 was mediated by intra-chromosomal non-homologous recombination between these highly homologous segmental duplications that had themselves arisen only recently in the human lineage by duplicative transposition.

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Acknowledgment

This research was funded by the Deutsche Forschungsgemeinschaft (DFG KE 724/2-1).

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Authors and Affiliations

  1. Department of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany

    Justyna M. Szamalek, Violaine Goidts, Horst Hameister & Hildegard Kehrer-Sawatzki

  2. Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK

    David N. Cooper

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  1. Justyna M. Szamalek
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  2. Violaine Goidts
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  3. David N. Cooper
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  4. Horst Hameister
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  5. Hildegard Kehrer-Sawatzki
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Correspondence to Hildegard Kehrer-Sawatzki.

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Justyna M. Szamalek and Violaine Goidts are contributed equally to the paper.

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Szamalek, J.M., Goidts, V., Cooper, D.N. et al. Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes. Hum Genet 120, 126–138 (2006). https://doi.org/10.1007/s00439-006-0209-y

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  • DOI: https://doi.org/10.1007/s00439-006-0209-y

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