Words similar to breakpoint
Example sentences for: breakpoint
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We selected probes to refine the chimpanzee XVq11-q13 pericentric inversion breakpoint on the basis of YAC maps of human 15q11-q13, in addition to the genome assemblies produced by the Human Genome Project [ 30 31 ] . We chose BACs targeted for complete sequencing (Figure 1) so that the underlying sequence of each probe would be available for further analysis pending comparative FISH results.
3 and the fact the CHRNA7 duplication appeared polymorphic in the human population [ 17 ] . This hypothesis deserved consideration in this study, as the site of duplication of the CHRNA7 locus in the human genome may correspond to the pericentric inversion breakpoint, and the high sequence homology noted between the donor and duplicated CHRNA7 loci does not establish the human-specificity of the CHRNA7 duplication, as gene conversion may also maintain high sequence homology of duplicated segments [ 26 27 ] . Thus, we tested the chimpanzee genome by Southern genomic analysis for the presence of the CHRNA7 duplication which revealed this duplication is most likely human-specific and therefore did not contribute to the pericentric inversion in chimpanzee (Figure 5).
While public and private sequence assemblies now depict the correct location for this gene, previous published reports indicated that this gene mapped proximal to BP3 within the PWS/AS deletion and autism-associated interstitial duplication interval [ 21 22 ] . STS content mapping with regional clones confirms the predicted genomic assemblies and places this gene distal to the BP3 HERC2-containing breakpoint.
Unfortunately, the highly duplicated nature of the region prevents precise narrowing of the breakpoint to a specific sequence; however, we believe large-scale sequence analysis of this region between human and chimpanzee will be able to reveal the precise nature of the breakpoint sequence.
The approximately 1 Mb (1,008,705 base-pairs (bp)) interval encompassing the entire pericentric inversion breakpoint interval and the adjacent unique (that is, present on only one chromosome arm in PTR) FISH probes was extracted from the November 2002 human genome assembly and compared to the entire genome using MEGABLAST.
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