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Clin Genet. 2010 Oct;78(4):299-309. doi: 10.1111/j.1399-0004.2010.01445.x.

The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements.

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1
Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi, Japan. kura@fujita-hu.ac.jp

Abstract

The constitutional t(11;22)(q23;q11) is the most common recurrent non-Robertsonian translocation in humans. The breakpoint sequences of both chromosomes are characterized by several hundred base pairs of palindromic AT-rich repeats (PATRRs). Similar PATRRs have also been identified at the breakpoints of other nonrecurrent translocations, suggesting that PATRR-mediated chromosomal translocation represents one of the universal pathways for gross chromosomal rearrangement in the human genome. We propose that PATRRs have the potential to form cruciform structures through intrastrand-base pairing in single-stranded DNA, creating a source of genomic instability and leading to translocations. Indeed, de novo examples of the t(11;22) are detected at a high frequency in sperm from normal healthy males. This review synthesizes recent data illustrating a novel paradigm for an apparent spermatogenesis-specific translocation mechanism. This observation has important implications pertaining to the predominantly paternal origin of de novo gross chromosomal rearrangements in humans.

PMID:
20507342
PMCID:
PMC3336963
DOI:
10.1111/j.1399-0004.2010.01445.x
[Indexed for MEDLINE]
Free PMC Article
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