Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation
(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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- author
- organization
- publishing date
- 2006
- 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
- 2022-08-20 20:34:38
@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}},
}