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

@article{Goidts2004SegmentalDA,
  title={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},
  author={Violaine Goidts and Justyna M. Szamalek and H. Hameister and Hildegard Kehrer-Sawatzki},
  journal={Human Genetics},
  year={2004},
  volume={115},
  pages={116-122}
}
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… CONTINUE READING

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