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

研究成果: Review article査読

36 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)299-309
ページ数11
ジャーナルClinical Genetics
78
4
DOI
出版ステータスPublished - 10-2010

All Science Journal Classification (ASJC) codes

  • 遺伝学
  • 遺伝学(臨床)

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