title: Recurrent DNA inversion rearrangements in the human genome.
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.
authors: Centro de Ciencias Genómicas, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Cuernavaca, Morelos, 62210, Mexico.
authors: Margarita
authors: M
authors: Flores
authors: Lucía
authors: L
authors: Morales
authors: Claudia
authors: C
authors: Gonzaga-Jauregui
authors: Rocío
authors: R
authors: Domínguez-Vidaña
authors: Cinthya
authors: C
authors: Zepeda
authors: Omar
authors: O
authors: Yañez
authors: María
authors: M
authors: Gutiérrez
authors: Tzitziki
authors: T
authors: Lemus
authors: David
authors: D
authors: Valle
authors: Ma Carmen
authors: MC
authors: Avila
authors: Daniel
authors: D
authors: Blanco
authors: Sofía
authors: S
authors: Medina-Ruiz
authors: Karla
authors: K
authors: Meza
authors: Erandi
authors: E
authors: Ayala
authors: Delfino
authors: D
authors: García
authors: Patricia
authors: P
authors: Bustos
authors: Víctor
authors: V
authors: González
authors: Lourdes
authors: L
authors: Girard
authors: Teresa
authors: T
authors: Tusie-Luna
authors: Guillermo
authors: G
authors: Dávila
authors: Rafael
authors: R
authors: Palacios
mesh_terms: D000328:Adult; D000367:Age Factors; D007446:Chromosome Inversion / Q000235:genetics*; D002877:Chromosomes, Human / Q000235:genetics*; D003001:Cloning, Molecular; D019295:Computational Biology / Q000379:methods; D015321:Gene Rearrangement / Q000235:genetics*; D040481:Genome Components / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D016133:Polymerase Chain Reaction / Q000379:methods; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D017422:Sequence Analysis, DNA