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Proc Natl Acad Sci U S A. 2007 Apr 10;104(15):6099-106. Epub 2007 Mar 26.

Recurrent DNA inversion rearrangements in the human genome.

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  • 1Centro de Ciencias Genómicas, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Cuernavaca, Morelos, 62210, Mexico.

Abstract

Several lines of evidence suggest that reiterated sequences in the human genome are targets for nonallelic homologous recombination (NAHR), which facilitates genomic rearrangements. We have used a PCR-based approach to identify breakpoint regions of rearranged structures in the human genome. In particular, we have identified intrachromosomal identical repeats that are located in reverse orientation, which may lead to chromosomal inversions. A bioinformatic workflow pathway to select appropriate regions for analysis was developed. Three such regions overlapping with known human genes, located on chromosomes 3, 15, and 19, were analyzed. The relative proportion of wild-type to rearranged structures was determined in DNA samples from blood obtained from different, unrelated individuals. The results obtained indicate that recurrent genomic rearrangements occur at relatively high frequency in somatic cells. Interestingly, the rearrangements studied were significantly more abundant in adults than in newborn individuals, suggesting that such DNA rearrangements might start to appear during embryogenesis or fetal life and continue to accumulate after birth. The relevance of our results in regard to human genomic variation is discussed.

PMID:
17389356
[PubMed - indexed for MEDLINE]
PMCID:
PMC1832218
Free PMC Article
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