A recurrent translocation is mediated by homologous recombination between HERV-H elements
<p>Abstract</p> <p>Background</p> <p>Chromosome rearrangements are caused by many mutational mechanisms; of these, recurrent rearrangements can be particularly informative for teasing apart DNA sequence-specific factors. Some recurrent translocations are mediated by hom...
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| Format: | Article |
| Language: | English |
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BMC
2012-01-01
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| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | http://www.molecularcytogenetics.org/content/5/1/6 |
| _version_ | 1818918895203909632 |
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| author | Hermetz Karen E Surti Urvashi Cody Jannine D Rudd M Katharine |
| author_facet | Hermetz Karen E Surti Urvashi Cody Jannine D Rudd M Katharine |
| author_sort | Hermetz Karen E |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Chromosome rearrangements are caused by many mutational mechanisms; of these, recurrent rearrangements can be particularly informative for teasing apart DNA sequence-specific factors. Some recurrent translocations are mediated by homologous recombination between large blocks of segmental duplications on different chromosomes. Here we describe a recurrent unbalanced translocation casued by recombination between shorter homologous regions on chromosomes 4 and 18 in two unrelated children with intellectual disability.</p> <p>Results</p> <p>Array CGH resolved the breakpoints of the 6.97-Megabase (Mb) loss of 18q and the 7.30-Mb gain of 4q. Sequencing across the translocation breakpoints revealed that both translocations occurred between 92%-identical human endogenous retrovirus (HERV) elements in the same orientation on chromosomes 4 and 18. In addition, we find sequence variation in the chromosome 4 HERV that makes one allele more like the chromosome 18 HERV.</p> <p>Conclusions</p> <p>Homologous recombination between HERVs on the same chromosome is known to cause chromosome deletions, but this is the first report of interchromosomal HERV-HERV recombination leading to a translocation. It is possible that normal sequence variation in substrates of non-allelic homologous recombination (NAHR) affects the alignment of recombining segments and influences the propensity to chromosome rearrangement.</p> |
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| id | doaj.art-022306f59b0049ac87ead9cdf7e5e76c |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-12-20T00:57:13Z |
| publishDate | 2012-01-01 |
| publisher | BMC |
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| series | Molecular Cytogenetics |
| spelling | doaj.art-022306f59b0049ac87ead9cdf7e5e76c2022-12-21T19:59:05ZengBMCMolecular Cytogenetics1755-81662012-01-0151610.1186/1755-8166-5-6A recurrent translocation is mediated by homologous recombination between HERV-H elementsHermetz Karen ESurti UrvashiCody Jannine DRudd M Katharine<p>Abstract</p> <p>Background</p> <p>Chromosome rearrangements are caused by many mutational mechanisms; of these, recurrent rearrangements can be particularly informative for teasing apart DNA sequence-specific factors. Some recurrent translocations are mediated by homologous recombination between large blocks of segmental duplications on different chromosomes. Here we describe a recurrent unbalanced translocation casued by recombination between shorter homologous regions on chromosomes 4 and 18 in two unrelated children with intellectual disability.</p> <p>Results</p> <p>Array CGH resolved the breakpoints of the 6.97-Megabase (Mb) loss of 18q and the 7.30-Mb gain of 4q. Sequencing across the translocation breakpoints revealed that both translocations occurred between 92%-identical human endogenous retrovirus (HERV) elements in the same orientation on chromosomes 4 and 18. In addition, we find sequence variation in the chromosome 4 HERV that makes one allele more like the chromosome 18 HERV.</p> <p>Conclusions</p> <p>Homologous recombination between HERVs on the same chromosome is known to cause chromosome deletions, but this is the first report of interchromosomal HERV-HERV recombination leading to a translocation. It is possible that normal sequence variation in substrates of non-allelic homologous recombination (NAHR) affects the alignment of recombining segments and influences the propensity to chromosome rearrangement.</p>http://www.molecularcytogenetics.org/content/5/1/6HERV-HHERVNAHRtranslocationt(4;18)recurrent translocation4q35.118q22.318q |
| spellingShingle | Hermetz Karen E Surti Urvashi Cody Jannine D Rudd M Katharine A recurrent translocation is mediated by homologous recombination between HERV-H elements Molecular Cytogenetics HERV-H HERV NAHR translocation t(4;18) recurrent translocation 4q35.1 18q22.3 18q |
| title | A recurrent translocation is mediated by homologous recombination between HERV-H elements |
| title_full | A recurrent translocation is mediated by homologous recombination between HERV-H elements |
| title_fullStr | A recurrent translocation is mediated by homologous recombination between HERV-H elements |
| title_full_unstemmed | A recurrent translocation is mediated by homologous recombination between HERV-H elements |
| title_short | A recurrent translocation is mediated by homologous recombination between HERV-H elements |
| title_sort | recurrent translocation is mediated by homologous recombination between herv h elements |
| topic | HERV-H HERV NAHR translocation t(4;18) recurrent translocation 4q35.1 18q22.3 18q |
| url | http://www.molecularcytogenetics.org/content/5/1/6 |
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