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Impact of low copy ...
Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation
- Article/chapterEnglish2006
Publisher, publication year, extent ...
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2006-11-24
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S. Karger AG,2006
Numbers
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LIBRIS-ID:oai:lup.lub.lu.se:4c10b1f4-06d7-48b4-acb3-3d48a114abd2
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https://lup.lub.lu.se/record/1137286URI
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https://doi.org/10.1159/000095921DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
Notes
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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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Chen, W
(author)
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Kirchhoff, M
(author)
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Kalscheuer, V M
(author)
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Hultschig, C
(author)
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Muller, I
(author)
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Schulz, RalphLund University,Lunds universitet,Stamcellscentrum (SCC),Avdelningen för stamcellsforskning,Institutionen för laboratoriemedicin,Medicinska fakulteten,Stem Cell Center,Division of stem cell research,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)med-rsl
(author)
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Menzel, C
(author)
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Bryndorf, T
(author)
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Ropers, H-H
(author)
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Ullmann, R
(author)
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Stamcellscentrum (SCC)Avdelningen för stamcellsforskning
(creator_code:org_t)
Related titles
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In:Cytogenetic and Genome Research: S. Karger AG115:3-4, s. 247-2531424-859X1424-8581
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Erdogan, F
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Chen, W
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Kirchhoff, M
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Kalscheuer, V M
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Hultschig, C
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Muller, I
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Schulz, Ralph
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Menzel, C
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Bryndorf, T
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Ropers, H-H
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Ullmann, R
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- MEDICAL AND HEALTH SCIENCES
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Lund University