Genetic Variation Affects de Novo Translocation Frequency

See allHide authors and affiliations

Science  17 Feb 2006:
Vol. 311, Issue 5763, pp. 971
DOI: 10.1126/science.1121452

You are currently viewing the abstract.

View Full Text

This article has a correction. Please see:


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.

View Full Text