Palindrome-mediated chromosomal translocations in humans

Hiroki Kurahashi, Hidehito Inagaki, Tamae Oe, Hiroshi Kogo, Takema Kato, Beverly S. Emanuel

研究成果: Article

70 引用 (Scopus)

抄録

Recently, it has emerged that palindrome-mediated genomic instability contributes to a diverse group of genomic rearrangements including translocations, deletions, and amplifications. One of the best studied examples is the recurrent t(11;22) constitutional translocation in humans that has been well documented to be mediated by palindromic AT-rich repeats (PATRRs) on chromosomes 11q23 and 22q11. De novo examples of the translocation are detected at a high frequency in sperm samples from normal healthy males, but not in lymphoblasts or fibroblasts. Cloned breakpoint sequences preferentially form a cruciform configuration in vitro. Analysis of the junction fragments implicates frequent double-strand-breaks (DSBs) at the center of both palindromic regions, followed by repair through the non-homologous end joining (NHEJ) pathway. We propose that the PATRR adopts a cruciform structure in male meiotic cells, creating genomic instability that leads to the recurrent translocation.

元の言語English
ページ(範囲)1136-1145
ページ数10
ジャーナルDNA Repair
5
発行部数9-10
DOI
出版物ステータスPublished - 08-09-2006

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Genetic Translocation
Genomic Instability
Fibroblasts
Chromosomes
Joining
Amplification
Spermatozoa
Repair
In Vitro Techniques

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Cell Biology

これを引用

Kurahashi, Hiroki ; Inagaki, Hidehito ; Oe, Tamae ; Kogo, Hiroshi ; Kato, Takema ; Emanuel, Beverly S. / Palindrome-mediated chromosomal translocations in humans. :: DNA Repair. 2006 ; 巻 5, 番号 9-10. pp. 1136-1145.
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Palindrome-mediated chromosomal translocations in humans. / Kurahashi, Hiroki; Inagaki, Hidehito; Oe, Tamae; Kogo, Hiroshi; Kato, Takema; Emanuel, Beverly S.

:: DNA Repair, 巻 5, 番号 9-10, 08.09.2006, p. 1136-1145.

研究成果: Article

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