RT Journal A1 Roberto, Roberta A1 Capozzi, Oronzo A1 Wilson, Richard K. A1 Mardis, Elaine R. A1 Lomiento, Mariana A1 Tuzun, Eray A1 Cheng, Ze A1 Mootnick, Alan R. A1 Archidiacono, Nicoletta A1 Rocchi, Mariano A1 Eichler, Evan E. T1 Molecular refinement of gibbon genome rearrangements JF Genome Research JO Genome Research YR 2007 FD February 01 VO 17 IS 2 SP 249 OP 257 DO 10.1101/gr.6052507 UL http://genome.cshlp.org/content/17/2/249.abstract AB The gibbon karyotype is known to be extensively rearranged when compared to the human and to the ancestral primate karyotype. By combining a bioinformatics (paired-end sequence analysis) approach and a molecular cytogenetics approach, we have refined the synteny block arrangement of the white-cheeked gibbon (Nomascus leucogenys, NLE) with respect to the human genome. We provide the first detailed clone framework map of the gibbon genome and refine the location of 86 evolutionary breakpoints to <1 Mb resolution. An additional 12 breakpoints, mapping primarily to centromeric and telomeric regions, were mapped to ∼5 Mb resolution. Our combined FISH and BES analysis indicates that we have effectively subcloned 49 of these breakpoints within NLE gibbon BAC clones, mapped to a median resolution of 79.7 kb. Interestingly, many of the intervals associated with translocations were gene-rich, including some genes associated with normal skeletal development. Comparisons of NLE breakpoints with those of other gibbon species reveal variability in the position, suggesting that chromosomal rearrangement has been a longstanding property of this particular ape lineage. Our data emphasize the synergistic effect of combining computational genomics and cytogenetics and provide a framework for ultimate sequence and assembly of the gibbon genome.