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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., Müller, I., et al. (2006). Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenetic and Genome Research, 115(3-4), 247-253. doi:10.1159/000095921.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-835A-9 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-835B-7
Genre: Journal Article

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 Creators:
Erdogan, F.1, Author              
Chen, W.1, Author              
Kirchhoff, M., Author
Kalscheuer, V. M.2, Author              
Hultschig, C.3, Author
Müller, I.4, Author              
Schulz, A.3, Author
Menzel, C.3, Author
Bryndorf, T., Author
Ropers, H.-H.1, Author              
Ullmann, R.4, Author              
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              
3Max Planck Society, ou_persistent13              
4Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              

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 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.

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Language(s): eng - English
 Dates: 2006-11
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 307491
DOI: 10.1159/000095921
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Title: Cytogenetic and Genome Research
Source Genre: Journal
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Pages: - Volume / Issue: 115 (3-4) Sequence Number: - Start / End Page: 247 - 253 Identifier: ISSN: 1424-8581