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Inversion, duplication, and changes in g ... h human chromosome 18 evolution


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

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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.


Dennehey BK, Gutches DG, McConkey EH, Krauter KS

Genomics

2004-03-01 00:00

83

3

493-501

Animals,Base Sequence,Centromere,Chromosome Mapping,Chromosomes, Artificial, Bacterial,Chromosomes, Human, Pair 18,Evolution, Molecular,Gene Duplication,Gene Library,Humans,Inversion, Chromosome,Mice,Molecular Sequence Data,Pan paniscus,Rats,Synteny

Department of Molecular, Cellular and Developmental Biology, University of Colorado, Boulder, CO 80309, USA

Genomics

NIDA DA12845

0888-7543

10.1016/j.ygeno.2003.08.017

S0888754303002702

657

True

14962675

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