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Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation

Erdogan, F ; Chen, W ; Kirchhoff, M ; Kalscheuer, V M ; Hultschig, C ; Muller, I ; Schulz, Ralph LU ; Menzel, C ; Bryndorf, T and Ropers, H-H , et al. (2006) In Cytogenetic and Genome Research 115(3-4). p.247-253
Abstract
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... (More)
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. (Less)
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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Cytogenetic and Genome Research
volume
115
issue
3-4
pages
247 - 253
publisher
Karger
external identifiers
  • pmid:17124407
  • scopus:33751503669
ISSN
1424-859X
DOI
10.1159/000095921
language
English
LU publication?
yes
id
4c10b1f4-06d7-48b4-acb3-3d48a114abd2 (old id 1137286)
date added to LUP
2016-04-01 11:41:56
date last changed
2021-02-17 06:05:22
@article{4c10b1f4-06d7-48b4-acb3-3d48a114abd2,
  abstract     = {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.},
  author       = {Erdogan, F and Chen, W and Kirchhoff, M and Kalscheuer, V M and Hultschig, C and Muller, I and Schulz, Ralph and Menzel, C and Bryndorf, T and Ropers, H-H and Ullmann, R},
  issn         = {1424-859X},
  language     = {eng},
  number       = {3-4},
  pages        = {247--253},
  publisher    = {Karger},
  series       = {Cytogenetic and Genome Research},
  title        = {Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation},
  url          = {http://dx.doi.org/10.1159/000095921},
  doi          = {10.1159/000095921},
  volume       = {115},
  year         = {2006},
}