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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



ID: 307610.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation
Authors:Erdogan, F.; Chen, W.; Kirchhoff, M.; Kalscheuer, V. M.; Hultschig, C.; Müller, I.; Schulz, A.; Menzel, C.; Bryndorf, T.; Ropers, H.-H.; Ullmann, R.
Language:English
Date of Publication (YYYY-MM-DD):2006-11
Title of Journal:Cytogenetic and Genome Research
Volume:115
Issue / Number:3-4
Start Page:247
End Page:253
Copyright:© 2007 S. Karger AG, Basel
Review Status:not specified
Audience:Experts Only
Abstract / Description:Low copy repeats (LCRs) are stretches of duplicated DNA that are more than 1 kb in size and share a sequence similarity that exceeds 90%. Non-allelic homologous recombination (NAHR) between highly similar LCRs has been implicated in numerous genomic disorders. This study aimed at defining the impact of LCRs on the generation of balanced and unbalanced chromosomal rearrangements in mentally retarded patients. A cohort of 22 patients, preselected for the presence of submicroscopic imbalances, was analysed using submegabase resolution tiling path array CGH and the results were compared with a set of 41 patients with balanced translocations and breakpoints that were mapped to the BAC level by FISH. Our data indicate an accumulation of LCRs at breakpoints of both balanced and unbalanced rearrangements. LCRs with high sequence similarity in both breakpoint regions, suggesting NAHR as the most likely cause of rearrangement, were observed in 6/22 patients with chromosomal imbalances, but not in any of the balanced translocation cases studied. In case of chromosomal imbalances, the likelihood of NAHR seems to be inversely related to the size of the aberration. Our data also suggest the presence of additional mechanisms coinciding with or dependent on the presence of LCRs that may induce an increased instability at these chromosomal sites.
Comment of the Author/Creator:e-mail: ullmann@molgen.mpg.de
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:Rigshospitalet, Department of Clinical Genetics, Copenhagen (Denmark)
Identifiers:ISSN:1424-8581
DOI:10.1159/000095921
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