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

H. Kurahashi, H. Inagaki, T. Ohye, H. Kogo, M. Tsutsumi, T. Kato, M. Tong, B. S. Emanuel

Research output: Contribution to journalReview article

33 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)299-309
Number of pages11
JournalClinical Genetics
Volume78
Issue number4
DOIs
Publication statusPublished - 01-10-2010

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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