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Science. 2006 Feb 17;311(5763):971.

Genetic variation affects de novo translocation frequency.

Author information

  • 1Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake Aichi 470-1192, Japan [corrected]

Erratum in

  • Science. 2006 Jun 9;312(5779):1472.

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.

PMID:
16484486
[PubMed - indexed for MEDLINE]
PMCID:
PMC2818512
Free PMC Article

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