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A recurrent translocation is mediated by homologous recombination between HERV-H elements

Hermetz, Karen E and Surti, Urvashi and Cody, Jannine D and Rudd, M Katharine (2012) A recurrent translocation is mediated by homologous recombination between HERV-H elements. Molecular Cytogenetics, 5 (1).

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Abstract

<jats:title>Abstract</jats:title> <jats:sec> <jats:title>Background</jats:title> <jats: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.</jats:p> </jats:sec> <jats:sec> <jats:title>Results</jats:title> <jats: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.</jats:p> </jats:sec> <jats:sec> <jats:title>Conclusions</jats:title> <jats: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.</jats:p> </jats:sec>

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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Hermetz, Karen E
Surti, Urvashisurti@pitt.eduSURTI
Cody, Jannine D
Rudd, M Katharine
Date: December 2012
Date Type: Publication
Journal or Publication Title: Molecular Cytogenetics
Volume: 5
Number: 1
Publisher: Springer Science and Business Media LLC
DOI or Unique Handle: 10.1186/1755-8166-5-6
Schools and Programs: School of Medicine > Pathology
Refereed: Yes
Date Deposited: 01 Nov 2016 18:12
Last Modified: 05 Sep 2021 14:55
URI: http://d-scholarship.pitt.edu/id/eprint/29969

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