Paternal origin of the de novo constitutional t(11;22)(q23;q11)

Tamae Ohye, Hidehito Inagaki, Hiroshi Kogo, Makiko Tsutsumi, Takema Kato, Maoqing Tong, Merryn V.E. MacVille, Livija Medne, Elaine H. Zackai, Beverly S. Emanuel, Hiroki Kurahashi

研究成果: Article査読

27 被引用数 (Scopus)


The constitutional t(11;22)(q23;q11) is a well-known recurrent non-Robertsonian translocation in humans. Although translocations generally occur in a random fashion, the break points of t(11;22)s are concentrated within several hundred base pairs on 11q23 and 22q11. These regions are characterized by palindromic AT-rich repeats (PATRRs), which appear to be responsible for the genomic instability. Translocation-specific PCR detects de novo t(11;22)s in sperm from healthy males at a frequency of 1/10 4-10 5, but never in lymphoblasts, fibroblasts or other human somatic cell lines. This suggests that the generation of t(11;22) rearrangement is linked to gametogenesis, although female germ cells have not been tested. Here, we have studied eight cases of de novo t(11;22) to determine the parental origin of the translocation using the polymorphisms on the relevant PATRRs. All of the eight translocations were found to be of paternal origin. This result implicates a possible novel mechanism of sperm-specific generation of palindrome-mediated chromosomal translocations.

ジャーナルEuropean Journal of Human Genetics
出版ステータスPublished - 07-2010

All Science Journal Classification (ASJC) codes

  • 遺伝学
  • 遺伝学(臨床)


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