Genetic variation affects de novo translocation frequency |
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| Authors: | Kato Takema Inagaki Hidehito Yamada Kouji Kogo Hiroshi Ohye Tamae Kowa Hiroe Nagaoka Kayuri Taniguchi Mariko Emanuel Beverly S Kurahashi Hiroki |
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| Institution: | Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake Aichi 470-1192, Japan [corrected] |
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| Abstract: | 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. |
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