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Science 17 February 2006:
Vol. 311. no. 5763, p. 971
DOI: 10.1126/science.1121452
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Genetic Variation Affects de Novo Translocation Frequency

Takema Kato,1 Hidehito Inagaki,1 Kouji Yamada,1 Hiroshi Kogo,1 Tamae Ohye,1 Hiroe Kowa,1 Kayuri Nagaoka,1 Mariko Taniguchi,1 Beverly S. Emanuel,2 Hiroki Kurahashi1*

Translocation is one of the most frequently occurring human chromosomal aberrations. The constitutional t(11;22)(q23;q11), which is the only known recurrent non-Robertsonian translocation, represents a good model for studying translocations in humans. Here we demonstrate polymorphisms of the palindromic sequence at the t(11;22) breakpoint that affect the frequency of de novo translocations in sperm from normal males. A typical allele consists of a perfect palindrome, producing ~10-5 de novo t(11;22) translocations. Alleles with an asymmetric center do not form the t(11;22). Our data show the importance of genome sequence on chromosomal rearrangements, a class of human mutation that is thought to be random.

1 Division of Molecular Genetics, Institute for Comprehensive Medical Science, Philadelphia, PA 19104, USA.
2 Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

* To whom correspondence should be addressed. E-mail: kura{at}fujita-hu.ac.jp

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