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Publication : Inversion, duplication, and changes in gene context are associated with human chromosome 18 evolution.

First Author  Dennehey BK Year  2004
Journal  Genomics Volume  83
Issue  3 Pages  493-501
PubMed ID  14962675 Mgi Jnum  J:88026
Mgi Id  MGI:3029028 Doi  10.1016/j.ygeno.2003.08.017
Citation  Dennehey BK, et al. (2004) Inversion, duplication, and changes in gene context are associated with human chromosome 18 evolution. Genomics 83(3):493-501
abstractText  Human chromosome 18 differs from its homologues in the great apes by a pericentric inversion. We have identified a chimpanzee bacterial artificial chromosome that spans a region where a break is likely to have occurred in a human progenitor and have characterized the corresponding regions in both chimpanzees and humans. Interspecies sequence comparisons indicate that the ancestral break occurred between the genes ROCK1 and USP14. In humans, the inversion places ROCK1 near centromeric heterochromatin and USP14 adjacent to highly repetitive subtelomeric repeats. In addition, we provide evidence for a human segmental duplication that may have provided a mechanism for the inversion.
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